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

2 structures for P50748

Entry ID Method Resolution Chain Position Source
7QPG EM 390 A R/S 2-2209 PDB
AF-P50748-F1 Predicted AlphaFoldDB

1697 variants for P50748

Variant ID(s) Position Change Description Diseaes Association Provenance
rs267603355
CA244756865
RCV002773501
1254 S>P Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
RCV000205944
CA350033
rs772156434
2209 S>L Malignant tumor of prostate [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1306686430
CA387048038
2 W>* No ClinGen
gnomAD
rs770102985
CA6847065
3 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs780248943
CA6847066
4 D>N No ClinGen
ExAC
gnomAD
CA6847067
rs556183893
5 I>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA387048103
rs574708956
6 E>D No ClinGen
1000Genomes
ExAC
gnomAD
CA387048085
rs1356725949
6 E>K No ClinGen
TOPMed
gnomAD
rs1356725949
CA387048087
6 E>Q No ClinGen
TOPMed
gnomAD
rs774941412
CA6847069
7 L>M No ClinGen
ExAC
gnomAD
rs1335724258
CA387048132
9 T>A No ClinGen
TOPMed
CA6847072
rs776265472
9 T>K No ClinGen
ExAC
CA387048146
rs1274882275
10 N>Y No ClinGen
TOPMed
rs75209631
CA6847074
CA6847073
11 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6847076
rs762674837
13 T>A No ClinGen
ExAC
gnomAD
CA387048213
rs1565922586
13 T>I No ClinGen
Ensembl
rs61751319
CA6847078
14 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA244770389
rs982532025
15 S>T No ClinGen
TOPMed
rs757242792
CA6847079
16 G>R No ClinGen
ExAC
CA6847082
rs756177730
21 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1397726585
CA387048354
22 S>L No ClinGen
gnomAD
CA387048428
rs201024338
26 H>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6847086
rs201024338
26 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6847087
rs748655836
27 G>E No ClinGen
ExAC
gnomAD
rs772757441
CA6847088
31 Y>C No ClinGen
ExAC
gnomAD
rs775975545
CA6847089
32 Q>E No ClinGen
ExAC
gnomAD
rs61752342
CA6847090
32 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 34 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA387048599
rs1309523023
37 V>G No ClinGen
gnomAD
rs762656292
CA6847093
39 I>T No ClinGen
ExAC
CA387048648
rs1184407730
40 S>F No ClinGen
gnomAD
CA244770475
rs894007649
41 S>F No ClinGen
TOPMed
gnomAD
rs1315504340
CA387048677
42 E>G No ClinGen
gnomAD
CA6847094
rs200159316
43 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 44 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM936245
rs1428064708
CA387049631
44 A>S endometrium [Cosmic] No ClinGen
cosmic curated
gnomAD
CA387049634
rs1287738931
44 A>V No ClinGen
gnomAD
rs1401820083
CA387049637
45 S>P No ClinGen
gnomAD
CA244774559
rs890638812
47 N>S No ClinGen
Ensembl
CA387049688
rs1223823399
49 K>N No ClinGen
gnomAD
CA387049685
rs1344708529
49 K>R No ClinGen
gnomAD
CA244774563
rs1010782630
50 I>L No ClinGen
Ensembl
CA6847114
rs761545034
50 I>T No ClinGen
ExAC
gnomAD
rs192257012
CA244774585
51 Q>R No ClinGen
1000Genomes
TCGA novel 52 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA387049736
rs1343898991
53 C>* No ClinGen
TOPMed
CA387049752
rs1215294760
55 L>* No ClinGen
gnomAD
rs767232160
CA6847116
56 S>N No ClinGen
ExAC
gnomAD
CA387049762
rs184547596
57 D>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6847117
rs184547596
57 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6847118
rs61750346
58 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA6847119
rs139484580
61 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs779777954
CA244774610
63 A>T No ClinGen
gnomAD
CA244774619
rs1018492342
64 D>N No ClinGen
TOPMed
gnomAD
rs1018492342
CA387049807
64 D>Y No ClinGen
TOPMed
gnomAD
CA387049828
rs1300405349
67 V>L No ClinGen
gnomAD
CA387049837
rs1360672545
68 I>T No ClinGen
gnomAD
rs1392308134
CA387049843
69 L>S No ClinGen
TOPMed
rs144203181
CA6847124
72 S>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1405350508
CA387049870
73 I>V No ClinGen
gnomAD
CA6847125
rs758719233
76 S>T No ClinGen
ExAC
gnomAD
CA244774657
rs770442709
79 L>F No ClinGen
Ensembl
CA387049931
rs1180948984
82 V>D No ClinGen
Ensembl
rs929827540
CA244774678
82 V>F No ClinGen
TOPMed
gnomAD
CA387050098
rs1249513564
84 D>G No ClinGen
gnomAD
CA6847147
rs541135571
85 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA244777896
rs1004047217
85 T>S No ClinGen
TOPMed
gnomAD
CA387050137
rs778462805
88 D>N No ClinGen
ExAC
gnomAD
rs778462805
CA6847149
88 D>Y No ClinGen
ExAC
gnomAD
CA387050147
rs1384134907
89 V>I No ClinGen
gnomAD
CA387050163
rs1164939150
90 V>A No ClinGen
gnomAD
rs1164939150
CA387050161
90 V>D No ClinGen
gnomAD
CA6847150
rs747823877
90 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA387050172
rs771672303
91 G>A No ClinGen
ExAC
gnomAD
rs771672303
CA6847151
91 G>V No ClinGen
ExAC
gnomAD
CA6847153
rs746744152
92 L>P No ClinGen
ExAC
gnomAD
rs770874429
CA6847154
93 C>Y No ClinGen
ExAC
gnomAD
rs776641631
CA6847155
94 Q>E No ClinGen
ExAC
gnomAD
TCGA novel 96 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759611710
CA6847156
96 G>R No ClinGen
ExAC
gnomAD
CA6847157
rs751383353
99 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA387050269
rs1268944121
100 L>* No ClinGen
gnomAD
CA6847158
rs775757438
101 V>I No ClinGen
ExAC
gnomAD
rs1215552863
CA387050284
102 G>V No ClinGen
gnomAD
CA244778006
rs971928204
103 E>* No ClinGen
TOPMed
gnomAD
rs1593485058
CA387050299
103 E>D No ClinGen
Ensembl
CA244778005
rs971928204
103 E>K No ClinGen
TOPMed
gnomAD
rs920414911
CA244778011
104 R>G No ClinGen
Ensembl
rs764181893
CA6847160
105 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA244778022
rs866133496
106 G>D No ClinGen
Ensembl
rs1419688241
CA387050351
108 L>V No ClinGen
TOPMed
gnomAD
rs751828060
CA6847161
109 H>Q No ClinGen
ExAC
gnomAD
rs1429754355
CA387050363
109 H>R No ClinGen
gnomAD
CA244778052
rs539288713
110 L>F No ClinGen
1000Genomes
TOPMed
gnomAD
rs539288713
CA387050368
110 L>V No ClinGen
1000Genomes
TOPMed
gnomAD
CA387050384
rs1475067577
111 I>T No ClinGen
gnomAD
CA387050393
rs1565931372
112 H>P No ClinGen
Ensembl
CA6847163
rs767875008
114 T>I No ClinGen
ExAC
gnomAD
CA387050423
rs1468032148
115 S>P No ClinGen
gnomAD
rs377081405
CA6847164
118 T>A No ClinGen
ESP
ExAC
gnomAD
CA387050477
rs1353227739
119 L>P No ClinGen
gnomAD
rs75373025
CA6847165
121 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs778374436
CA6847166
122 N>S No ClinGen
ExAC
gnomAD
CA387050618
rs1157036156
124 F>L No ClinGen
gnomAD
COSM3792293
rs1420316614
CA387050652
126 Q>R urinary_tract [Cosmic] No ClinGen
cosmic curated
gnomAD
rs919548559
CA244779089
129 N>I No ClinGen
TOPMed
gnomAD
TCGA novel 129 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1404757658
CA387050710
130 D>G No ClinGen
gnomAD
rs745774687
CA6847175
130 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs745774687
CA387050706
130 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA6847176
rs769888216
131 E>K No ClinGen
ExAC
gnomAD
rs374115933
CA6847178
133 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6847177
rs775527571
133 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs774369312
CA6847180
134 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6847179
rs375356431
134 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA387050789
rs1555221972
136 Y>* No ClinGen
Ensembl
rs1216359269
CA387050780
136 Y>N No ClinGen
gnomAD
rs866889590
CA244779137
142 E>* No ClinGen
Ensembl
CA6847181
rs540651987
143 K>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs868427840
CA244779160
143 K>N No ClinGen
Ensembl
CA387050896
rs1221608471
144 D>G No ClinGen
TOPMed
gnomAD
CA387050888
rs1489826976
144 D>N No ClinGen
TOPMed
gnomAD
rs1453112527
CA387050909
145 G>D No ClinGen
gnomAD
rs558905859
CA6847183
147 N>S No ClinGen
1000Genomes
ExAC
gnomAD
rs947673621
CA244779201
148 E>* No ClinGen
TOPMed
gnomAD
TCGA novel 148 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1184211639
CA387051288
149 G>D No ClinGen
gnomAD
rs1160490525
CA387050956
149 G>S No ClinGen
gnomAD
CA6847202
rs781099032
152 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA387051322
rs781099032
152 Y>S No ClinGen
ExAC
TOPMed
gnomAD
rs1381167604
CA387051353
155 L>V No ClinGen
TOPMed
rs1167662017
CA387051367
156 L>R No ClinGen
gnomAD
rs185354191
CA6847204
157 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6847205
rs779795415
158 Y>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 162 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1048741995
CA244788592
163 C>G No ClinGen
TOPMed
CA6847207
rs768614723
163 C>Y No ClinGen
ExAC
gnomAD
CA244788593
rs376431802
164 I>V No ClinGen
ESP
gnomAD
rs536299294
CA6847209
166 N>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs772321810
CA6847211
168 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs772321810
CA6847210
168 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA6847212
rs760982854
169 L>V No ClinGen
ExAC
gnomAD
rs766782265
CA6847213
170 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA387051528
rs1190796241
171 K>E No ClinGen
TOPMed
CA6847214
rs776939706
175 A>T No ClinGen
ExAC
rs1472640510
CA387051881
175 A>V No ClinGen
TOPMed
rs867893340
CA244790093
177 E>* No ClinGen
Ensembl
CA387051903
rs1197663903
177 E>G No ClinGen
gnomAD
CA387051937
rs1432290963
180 D>N No ClinGen
gnomAD
CA387051938
rs1432290963
180 D>Y No ClinGen
gnomAD
CA387051953
rs1218387406
181 F>I No ClinGen
gnomAD
CA387051965
rs1318292216
181 F>L No ClinGen
gnomAD
rs1284554601
CA387051959
181 F>Y No ClinGen
gnomAD
CA244790103
rs370657369
182 S>I No ClinGen
ESP
TOPMed
gnomAD
CA387051975
rs370657369
182 S>N No ClinGen
ESP
TOPMed
gnomAD
rs1176321677
CA387051969
182 S>R No ClinGen
gnomAD
rs761427660
CA244790104
182 S>R No ClinGen
gnomAD
rs778828775
CA6847227
183 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs968385497
CA387051990
183 T>I No ClinGen
TOPMed
gnomAD
CA387051988
rs968385497
183 T>K No ClinGen
TOPMed
gnomAD
CA244790115
rs968385497
183 T>R No ClinGen
TOPMed
gnomAD
CA387051983
rs778828775
183 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1271628045
CA387051998
184 A>E No ClinGen
gnomAD
rs1200826446
CA387051992
184 A>T No ClinGen
gnomAD
CA387052022
rs1361033131
186 K>E No ClinGen
gnomAD
CA387052097
rs1295529415
187 L>F No ClinGen
gnomAD
CA387052100
rs1196061323
188 Q>* No ClinGen
TOPMed
CA387052106
rs1239656405
189 G>R No ClinGen
TOPMed
gnomAD
TCGA novel 194 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6847251
rs758410427
196 I>V No ClinGen
ExAC
gnomAD
CA387052188
rs1322715494
197 S>P No ClinGen
gnomAD
rs61751320
CA6847252
198 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs901431253
CA244790766
198 T>I No ClinGen
TOPMed
CA387052216
rs1177597087
199 E>G No ClinGen
gnomAD
rs1456198403
CA387052210
199 E>K No ClinGen
gnomAD
rs1161394850
CA387052261
201 Y>C No ClinGen
gnomAD
CA387052273
rs1412919323
202 H>Y No ClinGen
TOPMed
gnomAD
CA6847254
rs747207034
203 T>S No ClinGen
ExAC
gnomAD
rs200109083
CA6847256
204 L>F No ClinGen
1000Genomes
ExAC
gnomAD
rs746191568
CA6847257
204 L>P No ClinGen
ExAC
gnomAD
rs770065963
CA387052304
205 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs770065963
CA6847258
205 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1231430958
CA387052334
207 L>F No ClinGen
TOPMed
rs371618629
CA6847260
208 S>G No ClinGen
1000Genomes
ESP
ExAC
gnomAD
CA387052355
rs1380473894
209 L>I No ClinGen
gnomAD
rs772898355
CA6847262
211 A>T No ClinGen
ExAC
gnomAD
rs760213772
CA6847263
212 G>R No ClinGen
ExAC
gnomAD
CA6847265
rs753456353
213 D>G No ClinGen
ExAC
gnomAD
CA387052424
rs1370326380
214 L>V No ClinGen
TOPMed
CA6847266
rs759320142
215 A>T No ClinGen
ExAC
gnomAD
CA244790861
rs376295165
218 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6847267
rs376295165
218 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387052515
rs1593501090
219 P>S No ClinGen
Ensembl
rs752631319
CA6847268
220 V>M No ClinGen
ExAC
CA387052557
rs1473113505
221 I>M No ClinGen
gnomAD
rs1183514803
CA387052579
223 G>W No ClinGen
TOPMed
gnomAD
rs749792196
CA6847279
224 G>R No ClinGen
ExAC
gnomAD
CA387053073
rs1177049362
225 T>A No ClinGen
TOPMed
gnomAD
CA6847280
rs769326636
225 T>N No ClinGen
ExAC
gnomAD
rs1011749393
CA244792191
226 G>S No ClinGen
TOPMed
CA6847282
rs746479828
228 C>Y No ClinGen
ExAC
gnomAD
CA6847283
rs376367155
229 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387053156
rs1296900756
231 S>L No ClinGen
gnomAD
CA6847285
rs759182891
233 W>R No ClinGen
ExAC
gnomAD
rs765007039
CA6847286
235 P>S No ClinGen
ExAC
gnomAD
CA6847288
rs761841925
236 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs761841925
CA6847287
236 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs761841925
CA244792243
236 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1565940532
CA387053236
237 S>C No ClinGen
Ensembl
CA387053249
rs1329698794
238 S>F No ClinGen
TOPMed
gnomAD
rs374749286
CA6847290
239 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA387053267
rs1388499987
240 K>E No ClinGen
TOPMed
gnomAD
rs757294714
CA6847291
240 K>R No ClinGen
ExAC
gnomAD
CA6847292
rs767559140
241 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs756452873
CA6847294
244 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs780536530
CA6847295
245 K>E No ClinGen
ExAC
gnomAD
rs7968222
CA6847296
VAR_051082
245 K>N No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1449647355
CA387053315
245 K>R No ClinGen
gnomAD
rs372499507
CA6847297
246 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1479060052
CA387053326
247 L>I No ClinGen
gnomAD
rs779505717
CA6847298
248 I>T No ClinGen
ExAC
gnomAD
CA6847299
rs748610461
249 D>N No ClinGen
ExAC
TOPMed
rs1296373468
CA387053372
250 A>G No ClinGen
TOPMed
TCGA novel 252 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773887656
CA6847317
255 G>D No ClinGen
ExAC
gnomAD
CA387053451
rs1209818822
256 A>G No ClinGen
TOPMed
gnomAD
rs369781146
CA6847319
258 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA387053466
rs1446803863
258 K>R No ClinGen
gnomAD
CA6847320
rs778371644
260 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs769304526
CA6847324
262 I>K No ClinGen
ExAC
CA6847323
rs769304526
262 I>R No ClinGen
ExAC
TCGA novel 263 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1265869805
CA387053502
264 N>D No ClinGen
gnomAD
rs1336670374
CA387053507
264 N>K No ClinGen
gnomAD
CA387053506
rs1231951575
264 N>S No ClinGen
TOPMed
rs779611530
CA6847325
266 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs779611530
CA387053515
266 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs889132086
CA244792635
268 V>F No ClinGen
TOPMed
gnomAD
rs749006379
CA6847326
268 V>G No ClinGen
ExAC
TOPMed
gnomAD
rs889132086
CA387053527
268 V>I No ClinGen
TOPMed
gnomAD
rs768424953
CA6847327
270 D>G No ClinGen
ExAC
gnomAD
rs1565941176
CA387053550
272 D>N No ClinGen
Ensembl
rs748916551
CA6847346
273 N>Y No ClinGen
ExAC
gnomAD
CA6847348
rs778659714
274 V>M No ClinGen
ExAC
gnomAD
rs1284020568
CA387053611
276 S>N No ClinGen
TOPMed
rs747849684
CA6847350
285 P>L No ClinGen
ExAC
gnomAD
rs1010322126
CA244793577
286 V>G No ClinGen
Ensembl
CA6847352
rs200333356
287 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs560023303
CA6847351
287 W>R No ClinGen
ExAC
gnomAD
CA6847353
rs760763301
289 W>R No ClinGen
ExAC
gnomAD
CA387053784
rs1216492034
290 P>R No ClinGen
gnomAD
CA6847355
rs776903535
291 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs1000056624
CA244793636
293 H>Y No ClinGen
Ensembl
rs765324143
CA6847357
294 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA387053831
rs1454299996
295 E>G No ClinGen
gnomAD
CA6847358
rs752974228
295 E>Q No ClinGen
ExAC
gnomAD
rs958632192
CA244793657
296 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA6847360
rs764583850
298 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA6847361
rs752046776
298 L>H No ClinGen
ExAC
gnomAD
CA387053863
rs764583850
298 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA387053881
rs1419571576
300 T>A No ClinGen
TOPMed
rs757808952
CA387053884
300 T>N No ClinGen
ExAC
gnomAD
CA6847362
rs757808952
300 T>S No ClinGen
ExAC
gnomAD
rs1432564137
CA387053907
302 E>V No ClinGen
TOPMed
gnomAD
CA387053914
rs1292022927
303 A>T No ClinGen
gnomAD
CA6847365
rs754539479
303 A>V No ClinGen
ExAC
gnomAD
CA387053932
rs1305782164
304 D>V No ClinGen
gnomAD
CA6847368
rs191922047
305 S>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
CA387053944
rs1339405745
305 S>F No ClinGen
gnomAD
CA6847370
rs561399189
306 P>T No ClinGen
1000Genomes
ExAC
rs777771975
CA6847371
308 S>L No ClinGen
ExAC
gnomAD
rs1219776941 310 T>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA387053989
rs1200366382
310 T>A No ClinGen
TOPMed
CA6847373
rs746924564
310 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1254288671
CA387054050
311 W>C No ClinGen
TOPMed
gnomAD
CA387054075
rs1465273348
313 G>E No ClinGen
gnomAD
CA387054080
rs1244614892
314 I>V No ClinGen
TOPMed
TCGA novel 316 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758123001
CA6847390
316 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs61751321
CA6847391
317 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746765192
CA6847392
320 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1380363212
CA387054187
324 A>T No ClinGen
TOPMed
gnomAD
CA244794081
rs983507804
324 A>V No ClinGen
TOPMed
gnomAD
rs116477881
CA6847393
326 A>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs116477881
CA6847394
326 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA387054208
rs116477881
326 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs950254394
CA244794111
327 N>I No ClinGen
TOPMed
rs769747766
CA6847397
329 K>N No ClinGen
ExAC
gnomAD
CA387054892
rs1487803789
331 K>E No ClinGen
TOPMed
gnomAD
rs1271702373
CA387054906
331 K>N No ClinGen
TOPMed
CA387054929
rs1555224020
332 N>I No ClinGen
Ensembl
rs1194180353
CA387054942
333 L>V No ClinGen
gnomAD
CA387054966
rs1477097970
334 M>I No ClinGen
gnomAD
CA6847411
rs368574278
335 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA387055005
rs1343509135
337 S>L No ClinGen
TOPMed
CA387055029
rs1395740357
340 T>A No ClinGen
gnomAD
TCGA novel 340 T>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA387055046
rs1555224041
341 M>R No ClinGen
Ensembl
CA244795473
rs1007356503
341 M>V No ClinGen
Ensembl
TCGA novel 343 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1278101754
CA387055082
343 I>V No ClinGen
TOPMed
gnomAD
CA6847413
rs181801270
344 L>P No ClinGen
1000Genomes
ExAC
gnomAD
CA244795478
rs1006344631
347 L>* No ClinGen
TOPMed
gnomAD
CA387055134
rs1593515353
347 L>F No ClinGen
Ensembl
rs1593515366
CA387055139
348 E>* No ClinGen
Ensembl
CA387055136
rs1593515366
348 E>K No ClinGen
Ensembl
rs1318601283
CA387055155
349 V>A No ClinGen
gnomAD
CA387055149
rs753662975
349 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs753662975
CA6847414
349 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA6847415
rs147259173
350 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1302134473
CA387055180
351 S>I No ClinGen
gnomAD
TCGA novel 352 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6847416
rs200406704
353 S>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387055210
rs1236416401
354 S>P No ClinGen
TOPMed
gnomAD
CA387055226
rs1283731999
355 L>P No ClinGen
gnomAD
CA6847417
rs779887028
358 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs768736303
CA6847419
359 G>E No ClinGen
ExAC
gnomAD
CA6847418
rs140826574
359 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6847420
rs779041092
362 T>I No ClinGen
ExAC
gnomAD
CA6847431
rs761603840
363 D>N No ClinGen
ExAC
gnomAD
rs767388448
CA6847433
364 T>S No ClinGen
ExAC
gnomAD
rs372604813
CA244796647
365 I>L No ClinGen
gnomAD
rs372604813
CA387055512
365 I>V No ClinGen
gnomAD
rs369157449
CA6847435
366 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375046231
CA244796653
366 Y>C No ClinGen
ESP
TOPMed
gnomAD
CA387055521
rs375046231
366 Y>F No ClinGen
ESP
TOPMed
gnomAD
rs779982973
CA6847436
368 L>S No ClinGen
ExAC
gnomAD
rs753723681
CA6847437
370 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA387055559
rs1217016681
372 C>F No ClinGen
gnomAD
CA387055560
rs1169400295
372 C>W No ClinGen
TOPMed
rs1250894440
CA387055563
373 K>E No ClinGen
gnomAD
CA244796692
rs760633250
374 N>D No ClinGen
gnomAD
CA387055576
rs1430525563
374 N>K No ClinGen
TOPMed
CA387055571
rs760633250
374 N>Y No ClinGen
gnomAD
rs1254416752
CA387055584
375 D>E No ClinGen
TOPMed
CA387055612
rs1593519713
378 L>* No ClinGen
Ensembl
CA387055637
rs1184422436
381 D>E No ClinGen
gnomAD
rs1260549325
CA387055642
382 S>* No ClinGen
gnomAD
rs542873141
CA244796775
385 V>L No ClinGen
Ensembl
CA387055671
rs1555224375
387 V>L No ClinGen
Ensembl
rs757640784
CA6847462
388 L>F No ClinGen
ExAC
gnomAD
CA6847463
rs373771355
388 L>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757640784
CA387055676
388 L>V No ClinGen
ExAC
gnomAD
CA6847464
rs376756586
389 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387055682
rs1377058661
389 R>T No ClinGen
gnomAD
rs1417576210
CA387055686
390 C>R No ClinGen
TOPMed
gnomAD
CA6847465
rs770377591
391 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA6847466
rs776174066
391 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA244796816
rs549673609
392 T>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6847467
rs549673609
392 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 393 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6847469
rs200040167
394 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1283018348
CA387055715
395 L>V No ClinGen
gnomAD
CA6847490
rs777187101
401 S>N No ClinGen
ExAC
gnomAD
CA387055774
rs1408450834
402 R>Q No ClinGen
gnomAD
rs770439701
CA6847492
402 R>W No ClinGen
ExAC
rs759257455
CA6847494
404 L>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 406 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1207530401
CA387055807
407 H>Y No ClinGen
TOPMed
rs769585652
CA6847495
410 A>D No ClinGen
ExAC
gnomAD
CA387055872
rs1328074046
416 A>T No ClinGen
gnomAD
CA6847497
rs775406246
416 A>V No ClinGen
ExAC
gnomAD
rs1299182365
CA387055877
417 I>V No ClinGen
gnomAD
CA244797024
rs569164416
421 L>P No ClinGen
gnomAD
CA6847499
rs764214072
422 D>G No ClinGen
ExAC
gnomAD
CA6847520
rs375661591
425 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1173811554
CA387056289
426 V>D No ClinGen
TOPMed
CA387056314
rs1374877303
428 K>* No ClinGen
TOPMed
gnomAD
rs1246763982
CA387056336
429 V>G No ClinGen
TOPMed
CA387056347
rs1190357240
430 K>R No ClinGen
gnomAD
rs766736485
CA244801719
431 S>L No ClinGen
Ensembl
rs766826642
CA6847523
434 I>T No ClinGen
ExAC
gnomAD
CA244801724
rs752360966
436 E>Q No ClinGen
Ensembl
rs755398971
CA6847525
437 K>E No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 438 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA244801761
rs992880450
439 A>E No ClinGen
TOPMed
CA6847526
rs371290628
439 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387056450
rs371290628
439 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6847527
rs752704050
442 S>F No ClinGen
ExAC
gnomAD
CA387056488
rs1376461568
442 S>T No ClinGen
gnomAD
CA244801788
rs752704050
442 S>Y No ClinGen
ExAC
gnomAD
rs1324365861
CA387056517
444 D>E No ClinGen
gnomAD
rs756742187
CA6847528
444 D>G No ClinGen
ExAC
gnomAD
CA6847529
rs780724401
446 S>C No ClinGen
ExAC
gnomAD
CA387056539
rs1270327866
446 S>T No ClinGen
gnomAD
CA244801806
COSM1359611
rs915581973
448 Q>* large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA6847532
rs78912868
449 T>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs745501474
CA6847531
449 T>S No ClinGen
ExAC
gnomAD
CA6847535
rs748970408
450 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA6847534
rs748970408
450 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1565952795
CA387056607
COSM202651
451 W>* Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs774142753
CA6847537
454 L>F No ClinGen
ExAC
gnomAD
rs772247665
CA6847538
454 L>P No ClinGen
ExAC
gnomAD
rs774142753
CA6847536
454 L>V No ClinGen
ExAC
gnomAD
rs1452597981
CA387056658
455 V>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA6847539
CA387056654
rs773473759
455 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA387056664
rs1396170347
456 D>G No ClinGen
gnomAD
rs766666311
CA6847541
457 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1399758166
CA387056675
458 A>T No ClinGen
TOPMed
gnomAD
rs759759286
CA6847543
458 A>V No ClinGen
ExAC
gnomAD
CA6847544
rs765687281
459 K>E No ClinGen
ExAC
gnomAD
TCGA novel 459 K>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA244801916
rs1028287113
462 L>P No ClinGen
TOPMed
rs767959224
CA6847547
463 H>Q No ClinGen
ExAC
gnomAD
rs559913481
CA6847546
463 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6847545
rs753135608
463 H>Y No ClinGen
ExAC
gnomAD
rs749897657
CA6847548
464 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA6847549
rs755628135
464 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA387056712
rs749897657
464 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs779516600
CA6847550
466 Q>R No ClinGen
ExAC
gnomAD
TCGA novel 469 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA244802133
rs569051769
474 Y>C No ClinGen
Ensembl
rs367561262
CA6847570
475 C>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1438866812
CA387056873
476 L>P No ClinGen
gnomAD
rs371401714
CA244802135
477 K>R No ClinGen
ESP
TOPMed
CA6847572
rs778452685
478 A>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA387056885
rs754707346
478 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA6847571
rs754707346
478 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA6847573
rs376805094
480 W>* No ClinGen
ESP
ExAC
gnomAD
rs1458952340
CA387056930
481 I>T No ClinGen
gnomAD
rs758271309
CA6847574
481 I>V No ClinGen
ExAC
gnomAD
rs1307933557
CA387056948
483 Y>H No ClinGen
gnomAD
rs777792491
CA6847575
484 E>V No ClinGen
ExAC
gnomAD
rs369856440
CA6847576
486 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA244802205
rs374194679
489 M>V No ClinGen
ESP
TOPMed
gnomAD
rs770907680
CA6847578
491 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA387057048
rs770907680
491 N>H No ClinGen
ExAC
TOPMed
gnomAD
CA244802212
rs941527026
493 A>V No ClinGen
Ensembl
rs745960814
CA387057114
496 R>K No ClinGen
ExAC
TOPMed
rs745960814
CA6847581
496 R>T No ClinGen
ExAC
TOPMed
CA6847608
rs377551099
500 K>E No ClinGen
ESP
ExAC
TOPMed
rs542034682
CA6847609
500 K>R No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 502 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA387057586
rs1453702481
503 K>N No ClinGen
gnomAD
rs561071987
CA6847610
503 K>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6847611
rs774747519
504 T>I No ClinGen
ExAC
gnomAD
CA6847614
rs762105934
511 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs762105934
CA6847613
511 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs773891168
CA6847640
515 V>M No ClinGen
ExAC
gnomAD
CA6847641
rs761658001
517 R>K No ClinGen
ExAC
gnomAD
rs1248344259
CA387057701
519 H>R No ClinGen
gnomAD
rs1165218113
CA387057704
520 A>T No ClinGen
TOPMed
rs1176457819
CA387057721
522 L>S No ClinGen
gnomAD
rs750344934
CA6847643
523 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1162973058
CA387057740
525 F>S No ClinGen
gnomAD
rs756054860
CA6847646
526 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs766326903
CA6847648
527 G>A No ClinGen
ExAC
gnomAD
TCGA novel 528 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1442098777
CA387057777
531 P>A No ClinGen
gnomAD
rs755054291
CA6847650
531 P>L No ClinGen
ExAC
gnomAD
CA6847651
rs779047252
533 K>N No ClinGen
ExAC
gnomAD
rs1593547799
CA387057809
535 S>I No ClinGen
Ensembl
rs367877298
CA6847667
537 S>R No ClinGen
ExAC
gnomAD
rs1240438820
CA387058606
538 S>Y No ClinGen
gnomAD
rs199501312
COSM75177
CA244813782
539 W>L ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA387058628
rs1277639997
540 I>T No ClinGen
TOPMed
CA387058624
rs1593564233
540 I>V No ClinGen
Ensembl
CA387058630
rs1217968446
541 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1475095347
CA387058639
542 F>L No ClinGen
gnomAD
rs892014390
CA244813786
543 L>V No ClinGen
TOPMed
CA244813816
rs1013211066
544 N>S No ClinGen
TOPMed
CA387058661
rs1392612380
545 N>S No ClinGen
TOPMed
gnomAD
rs1453097789
CA387058670
546 E>G No ClinGen
gnomAD
rs759598806
CA6847669
551 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA244813838
rs759598806
551 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs1414691163
CA387058717
552 I>F No ClinGen
gnomAD
CA387058725
rs1192084289
552 I>M No ClinGen
gnomAD
rs548709340
CA244813864
553 F>V No ClinGen
Ensembl
TCGA novel 554 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA387058786
rs1335717127
557 K>E No ClinGen
TOPMed
gnomAD
CA6847673
rs752929321
557 K>N No ClinGen
ExAC
gnomAD
rs530543264
CA6847671
557 K>T No ClinGen
1000Genomes
ExAC
CA387058867
rs1433663750
560 N>T No ClinGen
gnomAD
CA387058907
rs1320605046
562 V>F No ClinGen
TOPMed
gnomAD
CA6847674
rs778075421
563 C>Y No ClinGen
ExAC
gnomAD
CA6847675
rs751808157
565 Q>* No ClinGen
ExAC
gnomAD
CA387058966
rs1593564604
565 Q>R No ClinGen
Ensembl
CA387058987
rs1413832011
566 Y>C No ClinGen
TOPMed
rs1274033130
CA387058991
567 L>I No ClinGen
gnomAD
CA387059007
rs1425789085
568 W>* No ClinGen
TOPMed
TCGA novel 569 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1212742
CA6847676
rs368001390
570 R>* NS large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
COSM202653
rs781762358
CA6847677
570 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs746448268
CA6847678
571 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA6847680
rs778336279
572 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs199781100
CA6847679
572 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1162091500
CA387059728
573 A>G No ClinGen
gnomAD
rs777275248
CA6847702
575 F>L No ClinGen
ExAC
gnomAD
rs746731271
CA6847703
577 S>G No ClinGen
ExAC
gnomAD
rs1326687921
CA387059760
577 S>R No ClinGen
gnomAD
CA6847704
rs770678455
579 F>L No ClinGen
ExAC
gnomAD
CA244814953
rs373899483
580 D>E No ClinGen
Ensembl
CA6847705
rs776454941
581 V>M No ClinGen
ExAC
gnomAD
CA387059799
rs1290399273
583 M>T No ClinGen
gnomAD
rs1353677041
CA387059820
586 S>N No ClinGen
gnomAD
CA387059830
rs1244208704
587 L>F No ClinGen
gnomAD
CA387059834
rs1266088544
588 L>F No ClinGen
gnomAD
CA6847706
rs759345713
588 L>P No ClinGen
ExAC
gnomAD
rs868441714
CA244814973
589 N>S No ClinGen
Ensembl
rs1444537448
CA387059851
591 M>V No ClinGen
TOPMed
rs1274386656
CA387059864
592 S>F No ClinGen
gnomAD
CA387059892
rs1253576104
597 L>S No ClinGen
gnomAD
TCGA novel 599 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs192844811
CA6847711
606 N>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA244815057
rs983223300
612 V>L No ClinGen
Ensembl
CA6847712
rs762176017
615 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs767875424
CA6847713
616 V>G No ClinGen
ExAC
gnomAD
TCGA novel 622 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1256261426
CA387060092
624 A>V No ClinGen
gnomAD
rs1186629682
CA387060104
626 W>* No ClinGen
gnomAD
rs887294313
CA244815793
628 E>K No ClinGen
TOPMed
gnomAD
rs773917767
CA244815794
631 A>T No ClinGen
TOPMed
gnomAD
CA387060190
rs1372404574
634 L>F No ClinGen
TOPMed
rs756850308
CA6847721
634 L>H No ClinGen
ExAC
gnomAD
CA244815801
rs1017151061
637 T>S No ClinGen
gnomAD
rs1465740816
CA387060248
639 K>Q No ClinGen
gnomAD
CA387060292
rs1176476980
640 A>T No ClinGen
gnomAD
rs1379639385
CA387060305
641 N>D No ClinGen
gnomAD
rs1379639385
CA387060303
641 N>H No ClinGen
gnomAD
CA244815894
rs868050398
643 P>S No ClinGen
Ensembl
CA387060350
rs1389381122
644 E>A No ClinGen
gnomAD
CA387060375
rs1266791706
646 G>R No ClinGen
TOPMed
rs773583890
CA6847734
648 Q>* No ClinGen
ExAC
gnomAD
rs773583890
CA6847735
648 Q>E No ClinGen
ExAC
gnomAD
CA6847736
rs766831404
652 I>T No ClinGen
ExAC
gnomAD
rs1387749462
CA387060473
653 F>L No ClinGen
gnomAD
TCGA novel 654 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1313651215
CA387060499
656 A>T No ClinGen
gnomAD
CA387060526
rs1226188872
658 K>E No ClinGen
gnomAD
CA6847739
COSM1212741
rs755557444
659 T>I large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
COSM936253
rs765751440
CA6847740
661 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6847743
rs756760642
662 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA387060581
rs1488104365
662 L>W No ClinGen
TOPMed
gnomAD
CA6847744
rs745602896
664 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs779952017
CA6847746
665 A>G No ClinGen
ExAC
gnomAD
rs755837728
CA6847745
665 A>T No ClinGen
ExAC
gnomAD
rs1282030489
CA387060651
668 W>* No ClinGen
TOPMed
CA6847749
rs774436499
670 W>* No ClinGen
ExAC
gnomAD
rs1458857800
CA387060677
670 W>* No ClinGen
gnomAD
CA387060718
rs1405059681
673 L>F No ClinGen
TOPMed
rs1291560513
CA387060858
676 Y>H No ClinGen
TOPMed
rs754835336
CA6847771
681 E>K No ClinGen
ExAC
gnomAD
rs374600519
CA244817679
682 V>E No ClinGen
Ensembl
rs778983133
CA6847772
682 V>I No ClinGen
ExAC
gnomAD
TCGA novel 686 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA387060991
rs1483594859
689 V>I No ClinGen
gnomAD
rs1565971414
CA387061003
690 N>D No ClinGen
Ensembl
CA6847773
rs748161276
692 L>S No ClinGen
ExAC
gnomAD
CA387061043
rs1388909186
693 R>* No ClinGen
gnomAD
rs772245787
CA387061047
693 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs772245787
CA6847774
693 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs376075644
CA6847775
694 E>* No ClinGen
ESP
ExAC
gnomAD
rs376075644
CA387061051
694 E>Q No ClinGen
ESP
ExAC
gnomAD
rs763502647
CA6847777
697 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs776720381
CA6847778
698 L>* No ClinGen
ExAC
gnomAD
rs369843247
CA6847779
699 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770212695
CA6847781
701 K>* No ClinGen
ExAC
TOPMed
gnomAD
CA387061137
rs770212695
701 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs775948010
CA6847782
701 K>R No ClinGen
ExAC
gnomAD
CA6847783
rs763503709
703 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA6847784
rs763503709
703 N>H No ClinGen
ExAC
TOPMed
gnomAD
rs760109261
CA6847786
703 N>K No ClinGen
ExAC
gnomAD
rs749909411
CA6847785
703 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs753494900
CA6847788
707 A>V No ClinGen
ExAC
gnomAD
rs1555228942
CA387061223
708 L>F No ClinGen
Ensembl
rs778891147
CA6847791
709 S>F No ClinGen
ExAC
gnomAD
rs758361544
CA6847793
713 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs759309380
CA6847807
716 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs1164965207
CA387054630
719 I>T No ClinGen
TOPMed
gnomAD
CA387054644
rs191772462
720 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6847808
rs191772462
720 V>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM1188644
CA6847809
rs534237685
721 F>Y lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA6847810
rs201331566
722 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs201331566
CA244752373
722 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1322653956
CA387054667
COSM936255
722 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
COSM307473
rs751507258
CA6847812
723 M>I kidney [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs899016563
CA387054716
725 D>G No ClinGen
Ensembl
rs899016563
CA244752378
725 D>V No ClinGen
Ensembl
CA6847813
rs374239725
726 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6847814
rs759849356
727 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs377204060
CA244752380
729 A>S No ClinGen
ESP
TOPMed
rs377204060
CA387054752
729 A>T No ClinGen
ESP
TOPMed
rs1396604089
CA387054756
729 A>V No ClinGen
TOPMed
rs1593578889
CA387054761
730 P>R No ClinGen
Ensembl
rs745972828
CA6847815
730 P>S No ClinGen
ExAC
gnomAD
CA387054791
rs1291057638
732 L>R No ClinGen
gnomAD
rs1249224945
CA387054875
738 E>A No ClinGen
TOPMed
gnomAD
VAR_051083
rs17883249
CA6847817
COSM3688003
CA387054888
738 E>D large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
UniProt
dbSNP
CA6847816
rs533682868
738 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 739 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA387054939
rs1182349957
740 F>L No ClinGen
gnomAD
rs374356823
CA6847818
741 I>V No ClinGen
ESP
ExAC
gnomAD
CA6847819
rs768960218
743 V>I No ClinGen
ExAC
gnomAD
rs1162534401
CA387054997
745 M>V No ClinGen
gnomAD
rs367576553
CA244752383
746 R>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6847820
rs367576553
746 R>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6847821
rs61751322
748 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs770450706
CA6847822
751 Q>E No ClinGen
ExAC
gnomAD
rs776231796
CA6847823
751 Q>R No ClinGen
ExAC
gnomAD
CA387055111
rs1410662606
752 E>D No ClinGen
gnomAD
CA6847826
rs775291338
757 L>F No ClinGen
ExAC
gnomAD
rs1362186537
CA387055227
761 E>K No ClinGen
TOPMed
gnomAD
rs935408895
CA244752574
762 D>Y No ClinGen
TOPMed
gnomAD
rs1555229328
CA387055319
765 N>S No ClinGen
Ensembl
CA6847848
rs773980969
767 C>R No ClinGen
ExAC
gnomAD
CA387055349
COSM458240
rs1172234996
769 S>* cervix [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs767384290
CA6847851
779 W>* No ClinGen
ExAC
gnomAD
CA6847852
rs750419356
781 A>P No ClinGen
ExAC
gnomAD
CA387055441
rs1320421692
783 A>P No ClinGen
gnomAD
rs1593581655
CA387055452
784 M>I No ClinGen
Ensembl
rs1384323861
CA387055460
785 A>V No ClinGen
gnomAD
rs760741394
CA6847853
786 V>L No ClinGen
ExAC
gnomAD
CA387055470
rs1329062508
787 I>T No ClinGen
TOPMed
gnomAD
rs1371962771
CA387055473
788 A>T No ClinGen
TOPMed
rs766486969
CA6847854
788 A>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 792 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201148456
CA6847856
793 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1027639757
CA387055961
794 D>E No ClinGen
TOPMed
rs752933234
CA6847858
794 D>G No ClinGen
ExAC
gnomAD
CA387055956
rs1267474684
794 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs753818045
CA6847875
796 I>T No ClinGen
ExAC
gnomAD
CA6847874
rs766322919
796 I>V No ClinGen
ExAC
gnomAD
CA6847876
rs199954329
798 D>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA244752831
rs867052971
799 A>V No ClinGen
Ensembl
rs1163233829
CA387056006
800 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1172572678
CA387056014
801 L>F No ClinGen
TOPMed
rs753021299
CA387056021
802 K>R No ClinGen
ExAC
TOPMed
rs753021299
CA6847879
802 K>T No ClinGen
ExAC
TOPMed
rs375872082
CA6847880
803 I>T No ClinGen
ESP
ExAC
gnomAD
CA387056038
rs1367117629
804 M>I No ClinGen
TOPMed
gnomAD
rs752088372
CA6847882
804 M>R No ClinGen
ExAC
gnomAD
CA387056031
rs1426875939
804 M>V No ClinGen
TOPMed
rs757801099
CA6847883
806 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1306882053
CA387056052
807 A>T No ClinGen
gnomAD
rs1373359866
CA387056064
809 V>I No ClinGen
gnomAD
rs151068294
CA6847885
810 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1242039365
CA387056085
812 S>G No ClinGen
TOPMed
rs754578533
CA6847886
812 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1242039365
CA387056084
812 S>R No ClinGen
TOPMed
rs1204630767
CA387056098
814 A>P No ClinGen
TOPMed
gnomAD
CA387056097
rs1204630767
814 A>T No ClinGen
TOPMed
gnomAD
rs747877355
CA6847888
815 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA387056111
rs1279354795
816 E>G No ClinGen
TOPMed
gnomAD
rs1414770400
CA387056108
816 E>K No ClinGen
gnomAD
rs1180163965
CA387056129
819 V>M No ClinGen
gnomAD
CA387056145
rs1342812312
821 Q>* No ClinGen
TOPMed
gnomAD
rs372506657
CA387056161
823 L>P No ClinGen
ESP
ExAC
gnomAD
rs372506657
CA6847890
823 L>Q No ClinGen
ESP
ExAC
gnomAD
rs376521489
CA6847891
824 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1593584867
CA387056181
826 D>Y No ClinGen
Ensembl
rs746745688
CA6847910
831 K>E No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 831 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 831 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 832 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1164918387
CA387056248
834 Q>K No ClinGen
TOPMed
CA387056296
rs1342873730
837 Y>* No ClinGen
TOPMed
gnomAD
rs1593585440
CA387056294
837 Y>F No ClinGen
Ensembl
CA244752875
rs1007792770
838 K>N No ClinGen
TOPMed
gnomAD
CA387056355
rs1429831632
841 E>D No ClinGen
gnomAD
CA6847911
rs200445300
842 M>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1565975016
CA387056393
843 K>N No ClinGen
Ensembl
rs776428677
CA6847913
843 K>Q No ClinGen
ExAC
gnomAD
rs1278025893
CA387056405
844 K>R No ClinGen
gnomAD
CA387056417
rs1324317872
845 L>F No ClinGen
gnomAD
rs868854352
CA244752878
846 L>I No ClinGen
Ensembl
rs745858002
CA6847914
847 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA387056440
rs769739544
847 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs769739544
COSM3811325
CA6847915
847 R>Q Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs377553046
CA6847916
848 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387056462
rs1273257174
849 Y>C No ClinGen
TOPMed
gnomAD
CA6847918
rs764354490
851 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs763131992
CA6847917
851 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA387056499
rs1593585670
852 R>K No ClinGen
Ensembl
TCGA novel 853 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774771775
CA6847919
854 V>I No ClinGen
ExAC
gnomAD
rs1177942781
CA387056536
855 N>Y No ClinGen
gnomAD
rs762268029
CA6847920
856 L>F No ClinGen
ExAC
gnomAD
rs530518298
CA6847921
858 N>D No ClinGen
1000Genomes
ExAC
gnomAD
rs1390645890
CA387056586
858 N>K No ClinGen
TOPMed
rs767486222
CA6847922
859 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1555229794
CA387056600
859 K>N No ClinGen
Ensembl
CA244752886
rs959739552
861 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA244752888
rs202112178
862 M>I No ClinGen
Ensembl
rs1439789532
CA387056770
864 V>M No ClinGen
TOPMed
gnomAD
rs766849327
CA387056786
865 V>I No ClinGen
ExAC
gnomAD
CA6847945
rs766849327
865 V>L No ClinGen
ExAC
gnomAD
rs202085825
CA6847946
866 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs762442542
CA6847947
867 Y>C No ClinGen
ExAC
gnomAD
CA6847948
rs530141366
868 I>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6847949
rs751189646
870 K>* No ClinGen
ExAC
gnomAD
rs756883663
CA6847951
870 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA387056883
rs1310759654
871 Q>H No ClinGen
TOPMed
rs964844484
CA387056906
873 V>F No ClinGen
TOPMed
gnomAD
rs964844484
CA244753175
873 V>I No ClinGen
TOPMed
gnomAD
CA6847953
rs183574130
875 S>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6847956
rs749282000
878 E>A No ClinGen
ExAC
gnomAD
rs749282000
CA6847957
878 E>G No ClinGen
ExAC
gnomAD
CA6847958
rs779089672
879 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1288762934
CA387057006
881 L>V No ClinGen
gnomAD
rs534177397
CA6847961
883 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6847962
rs773316799
885 Q>* No ClinGen
ExAC
gnomAD
rs928965525
CA244753178
885 Q>H No ClinGen
TOPMed
gnomAD
rs761083498
CA6847963
886 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA387057110
rs1370437997
888 M>T No ClinGen
gnomAD
CA6847965
rs777090601
888 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA387057138
rs917175141
890 S>F No ClinGen
TOPMed
gnomAD
TCGA novel 890 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA244753183
rs917175141
890 S>Y No ClinGen
TOPMed
gnomAD
rs997827844
CA244753185
891 D>N No ClinGen
TOPMed
rs949888288
CA244753187
891 D>V No ClinGen
TOPMed
CA6847966
rs559023746
892 D>N No ClinGen
1000Genomes
ExAC
gnomAD
rs1226602792
CA387057158
893 E>D No ClinGen
gnomAD
CA244753191
rs751306591
894 I>T No ClinGen
Ensembl
rs113598460
CA244753195
895 Y>C No ClinGen
Ensembl
CA244753197
rs113598460
895 Y>F No ClinGen
Ensembl
rs1338282322
CA387057191
898 R>S No ClinGen
gnomAD
CA387057199
rs1287728119
900 I>L No ClinGen
TOPMed
rs1195879620
CA387057219
903 I>L No ClinGen
gnomAD
CA244753203
rs1044649586
904 D>E No ClinGen
TOPMed
rs761243612
CA6847969
905 R>G No ClinGen
ExAC
gnomAD
rs905928288
CA244753206
906 E>Q No ClinGen
TOPMed
CA387057268
rs776931208
908 G>D No ClinGen
ExAC
gnomAD
rs201253327
CA6847984
908 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6847985
rs776931208
908 G>V No ClinGen
ExAC
gnomAD
CA387057278
rs1203164932
910 D>N No ClinGen
gnomAD
rs1171300875
CA387057289
911 C>Y No ClinGen
TOPMed
TCGA novel 912 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1260768321
CA387057298
912 L>R No ClinGen
gnomAD
rs770218433
CA6847987
916 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA6847988
rs201402164
919 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA387057343
rs1480165906
920 P>S No ClinGen
TOPMed
gnomAD
CA387057345
rs1480165906
920 P>T No ClinGen
TOPMed
gnomAD
rs1262732018
CA387057365
923 A>S No ClinGen
TOPMed
rs772902325
CA6847991
926 T>A No ClinGen
ExAC
gnomAD
rs1288716467
CA387057404
929 R>G No ClinGen
gnomAD
rs1217683300
CA387057418
931 I>V No ClinGen
TOPMed
rs927234865
CA244753381
932 I>M No ClinGen
TOPMed
gnomAD
CA6847993
rs527750148
932 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA244753384
rs982830899
933 W>C No ClinGen
Ensembl
rs371376144
CA6847994
935 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754831260
COSM1212737
CA6847996
935 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA6847997
rs765249849
936 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs1283294877
CA387057450
937 A>T No ClinGen
gnomAD
rs921076390
CA244753397
939 Q>* No ClinGen
Ensembl
TCGA novel 939 Q>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6848000
rs777763189
941 E>K No ClinGen
ExAC
gnomAD
CA6848001
rs552563596
942 P>A No ClinGen
1000Genomes
ExAC
rs1206628053
CA387057493
943 D>G No ClinGen
gnomAD
CA6848002
rs757428476
943 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1432506693
CA387057499
944 H>D No ClinGen
TOPMed
rs781396154
CA6848003
945 S>P No ClinGen
ExAC
gnomAD
rs1357097962
CA387057528
947 E>Q No ClinGen
TOPMed
CA387057822
rs1394188711
948 G>C No ClinGen
gnomAD
CA244754234
rs972400567
948 G>D No ClinGen
TOPMed
gnomAD
CA387057820
rs1394188711
948 G>S No ClinGen
gnomAD
rs972400567
CA387057823
948 G>V No ClinGen
TOPMed
gnomAD
rs1191251594
CA387057826
949 K>E No ClinGen
TOPMed
rs780232822
CA6848025
951 W>* No ClinGen
ExAC
gnomAD
CA6848026
rs749697542
952 R>I No ClinGen
ExAC
gnomAD
CA6848028
rs768980416
955 V>I No ClinGen
ExAC
gnomAD
CA387057875
rs1214228825
956 A>S No ClinGen
TOPMed
rs199590387
CA6848029
956 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA6848032
rs539670629
960 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs769507476
CA6848034
962 I>N No ClinGen
ExAC
gnomAD
TCGA novel 962 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759307322
CA6848033
962 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs775106528
CA6848035
966 L>V No ClinGen
ExAC
gnomAD
rs762808770
CA6848036
967 C>S No ClinGen
ExAC
TOPMed
gnomAD
CA387057962
rs1369869155
969 I>M No ClinGen
TOPMed
rs1565980045
CA387057960
969 I>T No ClinGen
Ensembl
CA387057957
rs1251960122
969 I>V No ClinGen
gnomAD
TCGA novel 970 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763878615
CA387057966
970 Q>P No ClinGen
ExAC
gnomAD
rs763878615
CA6848037
970 Q>R No ClinGen
ExAC
gnomAD
rs200477285
CA6848038
971 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387057972
rs1452894348
971 K>T No ClinGen
TOPMed
rs748702894
CA6848048
972 D>G No ClinGen
ExAC
gnomAD
rs1229730562
CA387058016
976 K>* No ClinGen
TOPMed
rs201575472
CA387058040
979 E>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6848049
rs201575472
979 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA387058063
rs1185542643
982 E>* No ClinGen
gnomAD
CA387058075
CA387058076
rs1173558821
983 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA387058073
rs370526642
983 M>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1419743292
CA387058070
983 M>L No ClinGen
gnomAD
CA6848051
rs370526642
983 M>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6848050
rs370526642
983 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 987 F>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA244754459
rs866733759
989 E>* No ClinGen
Ensembl
rs1428523014
CA387058137
989 E>D No ClinGen
gnomAD
rs769264395
CA6848052
990 V>G No ClinGen
ExAC
gnomAD
CA387058155
rs1335998327
991 A>V No ClinGen
gnomAD
TCGA novel 995 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765680842
CA6848068
996 N>D No ClinGen
ExAC
gnomAD
CA387058760
rs1159487753
997 F>L No ClinGen
gnomAD
TCGA novel 998 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6848069
rs753130990
1000 F>C No ClinGen
ExAC
gnomAD
CA6848070
rs758932288
1001 L>P No ClinGen
ExAC
gnomAD
rs1302687696
CA387058890
1004 E>A No ClinGen
gnomAD
CA244755118
rs927131220
1006 Y>D No ClinGen
Ensembl
CA244755120
rs772077758
1007 S>N No ClinGen
TOPMed
gnomAD
rs568900680
CA6848071
1008 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA387059030
rs1381415407
1009 S>T No ClinGen
gnomAD
rs1278321142
CA387059043
1010 S>T No ClinGen
gnomAD
rs201981485
CA6848073
1012 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779543176
CA6848074
1014 D>Y No ClinGen
ExAC
gnomAD
TCGA novel 1015 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6848075
rs536586893
1016 R>C No ClinGen
1000Genomes
ExAC
gnomAD
CA6848077
rs370881274
1016 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6848076
rs370881274
1016 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA387059210
rs1267603546
1020 I>V No ClinGen
gnomAD
rs1396301441
CA387059225
1021 K>E No ClinGen
TOPMed
CA6848078
rs747945385
1022 A>T No ClinGen
ExAC
gnomAD
CA6848079
rs771941717
1022 A>V No ClinGen
ExAC
gnomAD
TCGA novel 1024 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6848081
rs760669670
1024 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1177631943
CA387059306
1026 A>V No ClinGen
gnomAD
rs374190938
CA6848082
1027 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA244755157
rs917214679
1028 A>T No ClinGen
gnomAD
CA6848084
rs759752691
1028 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1469058050
CA387059348
1033 G>R No ClinGen
TOPMed
rs758845238
CA6848088
1035 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs764683680
CA6848089
1036 P>A No ClinGen
ExAC
gnomAD
rs201046154
CA6848090
1037 E>D No ClinGen
1000Genomes
ExAC
gnomAD
rs190859355
CA6848092
1039 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs775609964
CA244755170
1041 A>S No ClinGen
Ensembl
rs748782051
CA6848093
1043 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs754594527
CA6848094
1044 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs1225329039
CA387059434
1046 P>L No ClinGen
TOPMed
rs1437220161
CA387059436
1047 S>G No ClinGen
gnomAD
CA387059445
rs1186462644
1048 M>L No ClinGen
gnomAD
rs1302400186
CA387059476
1052 L>Q No ClinGen
TOPMed
rs1565983599
CA387059487
1054 R>G No ClinGen
Ensembl
rs1442568658
CA387059495
1055 Q>* No ClinGen
gnomAD
TCGA novel
rs1182691141
CA387059500
1055 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
CA387059502
rs374767073
1056 A>S No ClinGen
ESP
TOPMed
gnomAD
CA244755184
rs374767073
1056 A>T No ClinGen
ESP
TOPMed
gnomAD
rs1473895864
CA387059506
1056 A>V No ClinGen
gnomAD
CA387059516
rs1160739010
1058 A>V No ClinGen
TOPMed
CA387059529
rs1395834717
1060 Q>H No ClinGen
TOPMed
gnomAD
CA6848097
rs148237388
1061 M>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6848098
rs777652354
1063 K>T No ClinGen
ExAC
gnomAD
CA244755192
rs944046804
1064 Q>K No ClinGen
Ensembl
rs61750348
CA6848100
1065 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA387059572
rs1565983769
1067 E>Q No ClinGen
Ensembl
rs759537334
CA6848102
1068 A>V No ClinGen
ExAC
gnomAD
CA387059591
rs1246509736
1069 E>D No ClinGen
TOPMed
gnomAD
CA387059600
rs1267943240
1071 T>I No ClinGen
gnomAD
CA6848104
rs371793371
1080 I>V No ClinGen
ESP
ExAC
gnomAD
CA6848106
rs201517227
1081 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387059676
rs1256581043
1082 T>K No ClinGen
gnomAD
rs1372679140
CA387059681
1083 A>E No ClinGen
gnomAD
CA6848108
rs141767241
1083 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1475794952
CA387059684
1084 L>M No ClinGen
gnomAD
rs767915646
CA6848109
1084 L>Q No ClinGen
ExAC
gnomAD
TCGA novel 1086 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1234974852
CA387059699
1086 K>T No ClinGen
TOPMed
rs753334234
CA6848110
1087 C>F No ClinGen
ExAC
gnomAD
rs754544017
CA6848111
1087 C>W No ClinGen
ExAC
gnomAD
CA6848112
rs200596757
1088 S>G No ClinGen
ExAC
gnomAD
CA6848133
rs777291592
1089 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA387060162
rs1565985167
1090 L>S No ClinGen
Ensembl
CA6848135
rs751308711
1091 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA244755529
rs1049571119
1091 F>L No ClinGen
Ensembl
CA244755530
rs868068084
1092 K>* No ClinGen
Ensembl
rs757056297
CA6848136
1092 K>R No ClinGen
ExAC
gnomAD
CA6848137
rs781184317
1095 C>F No ClinGen
ExAC
gnomAD
CA387060258
rs1302892806
1096 N>S No ClinGen
gnomAD
CA387060273
rs1565985244
1097 A>G No ClinGen
Ensembl
CA6848138
rs745840180
1097 A>T No ClinGen
ExAC
gnomAD
CA6848139
rs756144044
1100 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA387060337
rs1419972138
1102 L>W No ClinGen
gnomAD
rs749384779
CA387060390
1106 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA6848141
rs749384779
1106 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs1423466477
CA387060395
1107 C>R No ClinGen
gnomAD
CA244755549
rs377539396
1111 C>F No ClinGen
ESP
CA387060455
rs1177822300
1111 C>R No ClinGen
TOPMed
CA244755548
rs377539396
1111 C>S No ClinGen
ESP
rs768942364
CA387060479
1112 Q>H No ClinGen
ExAC
gnomAD
CA6848143
rs774497403
1113 M>K No ClinGen
ExAC
TOPMed
gnomAD
rs927260136
CA244755554
1113 M>L No ClinGen
TOPMed
gnomAD
CA244755557
rs774497403
1113 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs927260136
CA387060486
1113 M>V No ClinGen
TOPMed
gnomAD
CA387060532
rs772367216
1116 D>H No ClinGen
ExAC
gnomAD
CA6848145
rs772367216
1116 D>Y No ClinGen
ExAC
gnomAD
rs761117849
CA6848147
1119 P>A No ClinGen
ExAC
gnomAD
CA6848148
rs370952397
1119 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1479973332
CA387060586
1120 V>M No ClinGen
gnomAD
CA6848150
rs762460965
1121 T>I No ClinGen
ExAC
rs1593609727
CA387060643
1124 V>G No ClinGen
Ensembl
CA387060633
rs1446570643
1124 V>M No ClinGen
TOPMed
rs751235512
CA6848152
1125 G>E No ClinGen
ExAC
gnomAD
CA6848153
rs762124576
1126 L>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1422871506
CA387060683
1127 N>K No ClinGen
gnomAD
CA6848155
rs750274991
1127 N>S No ClinGen
ExAC
gnomAD
CA387060700
rs1164928488
1129 P>A No ClinGen
gnomAD
rs756049169
CA6848156
1131 M>V No ClinGen
ExAC
gnomAD
CA6848157
rs61751323
1132 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387060736
rs1219423656
1132 I>V No ClinGen
gnomAD
CA6848159
rs371428062
1134 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1330621580
CA387060751
1134 D>H No ClinGen
gnomAD
CA6848158
rs371428062
1134 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779167750
CA6848160
1137 S>N No ClinGen
ExAC
gnomAD
rs779167750
CA387060769
1137 S>T No ClinGen
ExAC
gnomAD
rs772365714
CA6848163
1143 C>* No ClinGen
ExAC
rs748371320
CA6848162
1143 C>Y No ClinGen
ExAC
TCGA novel 1148 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1444088158 1148 L>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6848181
rs752849627
1150 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1278915597
CA387061040
1155 C>R No ClinGen
TOPMed
gnomAD
rs530220395
CA6848182
1158 T>I No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 1158 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754996062
CA6848183
1161 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA6848184
rs747358470
1162 V>G No ClinGen
ExAC
gnomAD
rs1038774403
CA244755769
1162 V>I No ClinGen
TOPMed
gnomAD
CA6848185
rs541948519
1164 L>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1238851292
CA387061254
1171 D>G No ClinGen
TOPMed
gnomAD
CA6848186
rs374132869
COSM3772296
1171 D>Y pancreas [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA6848187
rs746410866
1173 C>R No ClinGen
ExAC
gnomAD
rs1192381228
CA387061273
1174 G>R No ClinGen
gnomAD
CA387061324
rs1376668602
1179 A>G No ClinGen
gnomAD
rs1565986989
CA387061326
1180 S>A No ClinGen
Ensembl
rs771751080
CA6848209
1182 G>E No ClinGen
ExAC
gnomAD
CA387061345
rs1355321899
1183 T>P No ClinGen
gnomAD
CA387061355
rs772980531
1184 H>P No ClinGen
ExAC
gnomAD
rs772980531
CA6848210
1184 H>R No ClinGen
ExAC
gnomAD
rs1406664710
CA387061353
1184 H>Y No ClinGen
TOPMed
CA244756008
rs916537311
1185 K>E No ClinGen
gnomAD
CA387061367
rs1338405324
1186 D>V No ClinGen
TOPMed
CA6848211
rs760358342
1186 D>Y No ClinGen
ExAC
gnomAD
rs371931759
CA387061372
1187 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs371931759
CA6848212
1187 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs776217427
CA6848213
1188 Y>H No ClinGen
ExAC
gnomAD
CA6848214
rs533594471
1189 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs1386875860
CA387061394
1190 E>A No ClinGen
TOPMed
CA387061424
rs1382473194
1194 S>R No ClinGen
gnomAD
TCGA novel 1195 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6848216
rs752745229
1196 F>S No ClinGen
ExAC
gnomAD
CA6848218
rs372569999
1198 S>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387061457
rs372569999
1198 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757430426
CA6848220
1201 G>E No ClinGen
ExAC
gnomAD
rs750742100
CA6848222
1202 I>V No ClinGen
ExAC
gnomAD
rs756569830
CA6848224
1207 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA6848225
rs377094070
1209 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1356472325
CA387061537
1210 L>H No ClinGen
gnomAD
rs777382168
CA6848228
COSM936265
1212 V>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1199103736
CA387061551
1213 I>L No ClinGen
gnomAD
CA387061558
rs1344629297
1214 Y>N No ClinGen
TOPMed
CA387061570
rs1593613431
1215 E>G No ClinGen
Ensembl
rs995696994
CA244756083
1216 L>R No ClinGen
Ensembl
rs1555232314
CA387061588
1218 S>* No ClinGen
Ensembl
CA387061593
rs1187145764
1219 S>P No ClinGen
gnomAD
CA6848230
rs150106151
1221 V>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6848248
rs372672248
1226 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1227 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6848249
rs200467562
1228 R>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1229 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs915532935
CA244756466
1229 Y>H No ClinGen
gnomAD
TCGA novel 1231 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA387061704
rs1593616209
1235 S>G No ClinGen
Ensembl
CA6848251
rs745582103
1237 P>L No ClinGen
ExAC
gnomAD
rs1324469342
CA387061725
1238 Y>H No ClinGen
TOPMed
TCGA novel 1239 C>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6848252
rs769352525
1239 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1347457643
CA387061738
1240 S>T No ClinGen
TOPMed
gnomAD
CA387061751
rs1468767800
1242 N>D No ClinGen
TOPMed
rs575582844
CA6848254
1242 N>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs768568451
CA6848255
1243 E>K No ClinGen
ExAC
gnomAD
CA387061784
rs1379375466
1245 D>N No ClinGen
gnomAD
TCGA novel 1246 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6848273
rs185586963
1247 L>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1593619094
CA387061814
1249 L>F No ClinGen
Ensembl
rs755726457
CA6848274
1252 I>T No ClinGen
ExAC
gnomAD
CA6848275
rs779631085
1254 S>Y No ClinGen
ExAC
gnomAD
rs749077462
CA6848276
1256 S>C No ClinGen
ExAC
gnomAD
rs577881416
CA6848277
1257 A>S No ClinGen
1000Genomes
ExAC
gnomAD
CA6848278
rs376432046
1258 L>M No ClinGen
ESP
ExAC
gnomAD
CA387061878
rs1377991583
1260 Q>P No ClinGen
TOPMed
gnomAD
CA387061877
rs1377991583
1260 Q>R No ClinGen
TOPMed
gnomAD
CA387061881
rs1235059482
1261 N>H No ClinGen
TOPMed
rs748027315
CA6848280
1263 Q>E No ClinGen
ExAC
gnomAD
rs748027315
CA387061895
1263 Q>K No ClinGen
ExAC
gnomAD
rs1245546195
CA387061908
1264 E>D No ClinGen
gnomAD
CA387061907
rs1321219613
1264 E>G No ClinGen
gnomAD
TCGA novel 1265 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1267765349
CA387061923
1266 S>R No ClinGen
gnomAD
CA387061938
rs1473123149
1268 W>* No ClinGen
gnomAD
CA6848281
rs545220073
1269 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs563495095
CA6848284
1270 L>P No ClinGen
1000Genomes
ExAC
gnomAD
CA387061952
rs1422740845
1271 A>T No ClinGen
gnomAD
TCGA novel 1273 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1359621
CA387061975
rs1420018365
1274 F>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA387061988
rs1468850576
1276 V>A No ClinGen
TOPMed
CA387061986
rs1334173766
1276 V>F No ClinGen
TOPMed
rs1334173766
CA387061984
1276 V>I No ClinGen
TOPMed
rs771176050
CA6848285
1277 G>S No ClinGen
ExAC
gnomAD
CA6848286
rs777064738
1279 F>L No ClinGen
ExAC
gnomAD
CA387062030
rs1400807960
1283 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA6848288
rs765748060
1284 Q>H No ClinGen
ExAC
gnomAD
rs753136807
CA6848289
1285 H>Q No ClinGen
ExAC
gnomAD
CA387062045
rs1183492622
1285 H>R No ClinGen
TOPMed
gnomAD
rs1593619619
CA387062052
1286 S>C No ClinGen
Ensembl
CA6848290
rs763478070
1287 V>G No ClinGen
ExAC
gnomAD
CA387062083
rs1316652084
1291 M>L No ClinGen
TOPMed
gnomAD
rs749890970
CA6848292
1292 N>D No ClinGen
ExAC
gnomAD
rs531317872
CA6848293
1292 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA244756891
rs372587320
1294 T>A No ClinGen
Ensembl
CA387062112
rs1482721043
1295 L>F No ClinGen
gnomAD
CA6848296
rs754646203
1295 L>S No ClinGen
ExAC
TOPMed
gnomAD
rs770173121
CA6848308
1300 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs567587924
CA6848310
1303 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6848309
rs775931092
1303 T>S No ClinGen
ExAC
gnomAD
CA387062181
rs1424173814
1304 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA387062190
rs1433510666
1305 L>S No ClinGen
gnomAD
rs1437294108
CA387062194
1306 V>I No ClinGen
TOPMed
CA387062225
rs1358790423
1310 H>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA387062229
rs1298878536
1311 V>I No ClinGen
gnomAD
CA6848315
rs182542690
1312 V>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6848314
rs370647423
1312 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6848313
rs370647423
1312 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6848317
rs764879176
1313 M>I No ClinGen
ExAC
gnomAD
CA6848316
rs754554613
1313 M>T No ClinGen
ExAC
gnomAD
CA244757061
rs772290371
1313 M>V No ClinGen
Ensembl
CA244757067
rs913030692
1314 E>G No ClinGen
Ensembl
rs1305183774
CA387062276
1318 K>E No ClinGen
gnomAD
rs979058487
CA244757074
1318 K>N No ClinGen
TOPMed
gnomAD
rs758198302
CA6848319
1321 I>T No ClinGen
ExAC
gnomAD
rs1167993460
CA387062295
1321 I>V No ClinGen
TOPMed
rs752809151
CA244757079
1323 I>M No ClinGen
Ensembl
CA6848320
rs201600632
1323 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148599474
CA244757080
1328 T>A No ClinGen
1000Genomes
gnomAD
CA6848321
rs545256990
1329 T>I No ClinGen
1000Genomes
ExAC
gnomAD
rs557174875
CA6848322
1331 L>P No ClinGen
1000Genomes
ExAC
gnomAD
rs1593622063
CA387062365
1332 H>L No ClinGen
Ensembl
CA387062372
rs1258964314
1333 K>R No ClinGen
gnomAD
CA6848342
COSM936268
rs752336311
1338 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6848343
rs199554625
1338 R>H No ClinGen
1000Genomes
ExAC
gnomAD
rs1169040821
CA387062429
1340 V>I No ClinGen
gnomAD
rs372501009
CA6848347
1343 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368464642
CA6848346
1343 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751404560
CA6848345
COSM1188645
1343 D>Y lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
COSM1359624
rs745930138
CA6848348
1345 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM4146761
rs1374115321
CA387062469
1346 L>F thyroid [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA387062464
rs1593627364
1346 L>M No ClinGen
Ensembl
CA244759908
rs779440210
1347 G>V No ClinGen
Ensembl
rs1283074136
CA387062480
1348 Y>C No ClinGen
gnomAD
rs1235026108
CA387062507
1352 L>S No ClinGen
TOPMed
gnomAD
CA6848351
rs749420792
1354 Q>H No ClinGen
ExAC
gnomAD
CA387062520
rs1256033270
1354 Q>P No ClinGen
gnomAD
CA6848352
rs564690172
1356 D>G No ClinGen
1000Genomes
ExAC
gnomAD
CA387062533
rs1414692143
1356 D>H No ClinGen
gnomAD
CA6848353
rs779078149
1357 V>G No ClinGen
ExAC
gnomAD
rs772551615
CA6848355
1359 E>K No ClinGen
ExAC
gnomAD
CA244759928
rs35806018
1362 W>R No ClinGen
TOPMed
gnomAD
rs1282750877
CA387062582
1363 K>E No ClinGen
TOPMed
CA6848358
rs369310376
1364 L>F No ClinGen
ESP
ExAC
gnomAD
CA6848359
rs775091394
1365 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs890879823
CA244759940
1366 D>H No ClinGen
Ensembl
CA387062611
rs1565993721
1367 K>R No ClinGen
Ensembl
rs762475893
CA6848360
1368 A>V No ClinGen
ExAC
gnomAD
rs866188207
CA244759955
1370 Q>H No ClinGen
Ensembl
CA6848362
rs767757962
1373 D>K No ClinGen
ExAC
CA387062652
COSM275782
rs1398252293
1373 D>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA6848365
rs767558368
1376 L>V No ClinGen
ExAC
gnomAD
rs1355576785
CA387062677
1376 L>W No ClinGen
gnomAD
rs1285367767
CA387062691
1377 A>T No ClinGen
gnomAD
rs778074193
CA6848396
1378 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA6848397
rs747381203
1379 S>F No ClinGen
ExAC
gnomAD
CA387062711
rs1451398366
1380 L>P No ClinGen
gnomAD
rs1194650449
CA387062719
1382 G>S No ClinGen
gnomAD
CA6848398
rs757648651
1383 S>F No ClinGen
ExAC
gnomAD
CA6848400
rs748743485
1384 E>D No ClinGen
ExAC
gnomAD
CA6848399
rs781753461
1384 E>G No ClinGen
ExAC
gnomAD
CA244760220
rs540063427
1385 L>R No ClinGen
1000Genomes
rs572769285
CA244760210
1385 L>V No ClinGen
1000Genomes
TCGA novel 1386 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1379191961
CA387062743
1386 A>V No ClinGen
TOPMed
gnomAD
rs1453797281
CA387062750
1387 S>I No ClinGen
gnomAD
rs768254164
CA6848401
1388 L>F No ClinGen
ExAC
TOPMed
CA6848402
COSM936270
rs774019143
1389 Y>C endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA6848403
rs774019143
1389 Y>S No ClinGen
ExAC
TOPMed
gnomAD
rs771853294
CA6848404
1390 Q>* No ClinGen
ExAC
gnomAD
rs912460940
CA244760232
1391 E>K No ClinGen
Ensembl
rs773082639
CA6848405
1392 I>V No ClinGen
ExAC
gnomAD
rs760601600
CA6848406
1394 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA244760257
rs191910729
1397 K>N No ClinGen
1000Genomes
TOPMed
gnomAD
CA387062812
rs1164803195
1397 K>Q No ClinGen
TOPMed
CA6848408
COSM1359626
rs566613986
1399 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs759508546
CA6848411
1399 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs759508546
CA6848410
1399 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1214764334
CA387062833
1400 E>* No ClinGen
gnomAD
rs762851601
CA6848413
1400 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs758551489
CA6848414
1401 L>F No ClinGen
ExAC
gnomAD
CA6848416
rs376513898
1406 Q>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376513898
CA6848415
1406 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6848417
rs757708469
1408 G>C No ClinGen
ExAC
gnomAD
CA6848418
rs781519591
1409 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA6848419
rs746336479
1410 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA387062898
rs746336479
1410 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1366701984
CA387062901
1410 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA6848420
rs369735435
1412 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA244760284
rs1013068092
1413 K>E No ClinGen
Ensembl
rs1396449942
CA387062924
1414 L>P No ClinGen
gnomAD
CA244761406
rs773208953
1416 I>L No ClinGen
Ensembl
CA6848452
COSM3722312
rs745665785
1417 S>C upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA6848453
rs745665785
1417 S>Y No ClinGen
ExAC
TOPMed
gnomAD
rs749261940
CA244761409
1420 P>Q No ClinGen
Ensembl
rs1593639233
CA387062988
1422 F>L No ClinGen
Ensembl
CA6848455
rs762991897
1427 L>F No ClinGen
ExAC
gnomAD
rs768773060
CA6848456
1428 T>I No ClinGen
ExAC
gnomAD
rs1476788223
CA387063040
1430 K>E No ClinGen
gnomAD
CA6848458
rs762027879
1430 K>R No ClinGen
ExAC
gnomAD
rs767645076
CA6848459
1431 D>N No ClinGen
ExAC
gnomAD
CA387063060
rs1430034422
1433 I>F No ClinGen
gnomAD
CA387063059
rs1430034422
1433 I>V No ClinGen
gnomAD
rs938143715
CA244761414
1435 A>T No ClinGen
TOPMed
CA6848460
rs750784882
1435 A>V No ClinGen
ExAC
gnomAD
CA6848461
rs761008447
1437 V>L No ClinGen
ExAC
gnomAD
CA387063090
rs1360825229
1438 E>* No ClinGen
TOPMed
rs1315250012
CA387063096
1439 N>H No ClinGen
TOPMed
rs754441025
CA6848463
1440 I>M No ClinGen
ExAC
gnomAD
CA6848462
rs766959318
1440 I>V No ClinGen
ExAC
gnomAD
CA6848464
rs374785525
1441 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200503296
CA244761422
1442 M>K No ClinGen
ExAC
TOPMed
gnomAD
rs200503296
CA6848465
1442 M>R No ClinGen
ExAC
TOPMed
gnomAD
rs200503296
CA387063119
1442 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs896733876
CA244761435
1443 D>N No ClinGen
gnomAD
CA387063133
rs751039434
1444 T>K No ClinGen
ExAC
gnomAD
rs751039434
CA6848466
1444 T>R No ClinGen
ExAC
gnomAD
rs973177162
CA244761448
1446 L>P No ClinGen
TOPMed
gnomAD
rs1346698482
CA387063159
1448 L>W No ClinGen
gnomAD
TCGA novel 1452 S>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA387063217
rs1468717078
1454 F>C No ClinGen
gnomAD
CA6848484
rs73407858
1455 Q>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6848485
rs569474522
CA6848486
1455 Q>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1480842065
CA387063229
1456 L>W No ClinGen
TOPMed
CA6848487
rs750091974
1457 D>A No ClinGen
ExAC
TOPMed
gnomAD
rs1410875817
CA387063247
1459 D>N No ClinGen
gnomAD
CA6848489
rs779785645
1459 D>V No ClinGen
ExAC
gnomAD
CA387063262
rs1395702459
1461 V>F No ClinGen
gnomAD
CA6848492
rs778782039
1463 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA6848493
rs748225071
1465 F>L No ClinGen
ExAC
gnomAD
CA6848494
rs530384725
1465 F>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs771286904
CA387063293
1466 I>S No ClinGen
ExAC
TOPMed
gnomAD
CA6848497
rs771286904
1466 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs747192233
CA6848496
1466 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs777081250
CA6848498
1468 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA6848500
rs765773088
1469 L>M No ClinGen
ExAC
gnomAD
rs1417899482
CA387063311
1469 L>P No ClinGen
gnomAD
CA387063312
rs1417899482
1469 L>R No ClinGen
gnomAD
rs775902142
CA6848501
1471 H>R No ClinGen
ExAC
gnomAD
rs766890908
CA6848503
1472 N>K No ClinGen
ExAC
gnomAD
rs761365330
CA387063329
1472 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs761365330
CA6848502
1472 N>T No ClinGen
ExAC
TOPMed
gnomAD
CA6848504
rs374685449
1473 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374685449
CA6848505
1473 T>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1475 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200836404
CA6848508
1476 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1165830833
CA387063358
1477 Q>L No ClinGen
TOPMed
rs1593648483
CA387063363
1478 G>S No ClinGen
Ensembl
rs747982808
CA6848510
1478 G>V No ClinGen
ExAC
gnomAD
CA387063372
rs1462936370
COSM1599999
1479 Q>L central_nervous_system [Cosmic] No ClinGen
cosmic curated
TOPMed
CA387063404
rs777644445
1484 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA387063407
rs1181002249
1484 M>T No ClinGen
TOPMed
rs777644445
CA6848512
1484 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA387063431
rs1163059327
1487 A>V No ClinGen
gnomAD
rs1355792139
CA387063441
1489 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA6848514
rs201757501
1489 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs746207263
CA6848516
1490 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
COSM936273
CA6848515
rs369923772
1490 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA387063472
rs775946277
1494 L>H No ClinGen
ExAC
TOPMed
gnomAD
rs775946277
CA6848518
1494 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs868852678
CA244762607
1496 A>D No ClinGen
Ensembl
rs768470799
CA244762602
1496 A>P No ClinGen
Ensembl
CA387063486
rs1215084868
1497 K>R No ClinGen
TOPMed
rs772694843
CA6848522
COSM225008
1499 L>F skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA387063500
rs1275307801
1499 L>R No ClinGen
gnomAD
rs772694843
CA6848521
1499 L>V No ClinGen
ExAC
gnomAD
rs765984749
CA387063501
1500 E>K No ClinGen
ExAC
gnomAD
CA6848523
rs765984749
1500 E>Q No ClinGen
ExAC
gnomAD
CA387063513
rs1258893868
1501 M>I No ClinGen
gnomAD
rs753535230
CA6848524
1501 M>V No ClinGen
ExAC
gnomAD
CA6848526
rs35315099
VAR_051084
1506 T>M No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA6848529
rs758214565
1508 T>A No ClinGen
ExAC
gnomAD
rs1168153376
CA387063562
1509 K>R No ClinGen
gnomAD
rs900562877
CA244762667
1510 D>N No ClinGen
TOPMed
TCGA novel 1510 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6848530
rs186936079
1511 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM249529
CA6848531
rs75696429
1512 V>G kidney [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA387063586
rs1376047296
1513 I>F No ClinGen
gnomAD
CA387063595
rs1438976869
1514 S>I No ClinGen
TOPMed
rs188333792
CA6848533
1515 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA387063605
rs1325652304
1516 S>G No ClinGen
gnomAD
rs868009939
CA244762690
1517 G>E No ClinGen
Ensembl
rs1227804932
CA387063623
1518 I>M No ClinGen
gnomAD
rs1272212082
CA387063628
1519 L>R No ClinGen
gnomAD
rs373258279
CA6848537
1520 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377338340
CA6848538
1521 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6848545
rs141319247
1523 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA244764850
rs188264424
1526 D>N No ClinGen
1000Genomes
TOPMed
gnomAD
rs764096706
CA6848547
1527 Y>D No ClinGen
ExAC
gnomAD
CA387063714
rs1312190763
COSM3688005
1529 M>I large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs757284102
CA6848549
1532 V>D No ClinGen
ExAC
gnomAD
rs751600300
CA6848548
1532 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1454217351
CA387063734
1533 V>I No ClinGen
TOPMed
gnomAD
CA244764857
rs1051571885
1537 I>L No ClinGen
TOPMed
gnomAD
rs1398121818
CA387063765
1537 I>R No ClinGen
TOPMed
TCGA novel 1537 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA244764862
rs796953117
1539 R>* No ClinGen
TOPMed
rs537391298
CA244764864
1539 R>Q No ClinGen
1000Genomes
CA244764868
rs896655166
1541 D>G No ClinGen
TOPMed
CA387063803
rs1392271520
1543 K>R No ClinGen
TOPMed
CA387063829
rs1444121348
1547 I>V No ClinGen
TOPMed
rs1326837305
CA387063844
1549 I>V No ClinGen
gnomAD
CA387063854
rs1373465332
1550 N>S No ClinGen
gnomAD
rs1243648979
CA387063861
1551 Q>P No ClinGen
TOPMed
rs1593661178
CA387063904
1552 A>P No ClinGen
Ensembl
rs1295464894
CA387063921
1554 S>G No ClinGen
gnomAD
rs761777471
CA6848569
1555 I>F No ClinGen
ExAC
gnomAD
TCGA novel 1556 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1250360699
CA387063972
1558 H>R No ClinGen
TOPMed
gnomAD
CA6848570
rs767576864
1559 L>* No ClinGen
ExAC
gnomAD
CA6848572
rs756256949
1561 S>L No ClinGen
ExAC
TOPMed
CA387064014
rs1467714969
1562 Y>H No ClinGen
TOPMed
rs754043201
CA6848574
1563 R>G No ClinGen
ExAC
gnomAD
CA387064055
rs1188442301
1565 I>M No ClinGen
gnomAD
CA244765324
rs368101210
1567 P>L No ClinGen
ESP
TOPMed
rs755219785
CA6848575
1567 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA6848576
rs779178448
1568 P>T No ClinGen
ExAC
gnomAD
CA387064072
rs371479973
1569 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6848578
rs371479973
1569 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA244765330
rs1051325845
1570 D>G No ClinGen
TOPMed
rs1256517743
CA387064088
1572 E>K No ClinGen
TOPMed
rs1311120129
CA387064101
1573 Y>C No ClinGen
gnomAD
CA6848580
rs745341317
1574 Q>H No ClinGen
ExAC
gnomAD
CA387064151
rs1479427306
1580 V>I No ClinGen
TOPMed
CA244765346
rs999109760
1581 I>V No ClinGen
TOPMed
gnomAD
CA6848581
rs769398897
1582 T>N No ClinGen
ExAC
gnomAD
CA387064171
rs1294494775
1583 L>S No ClinGen
gnomAD
CA6848585
rs543461396
1586 A>P No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 1587 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs555365524
CA6848587
1592 P>S No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 1594 H>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA387064256
rs1300425498
1596 I>M No ClinGen
TOPMed
CA387064258
rs760551034
1597 F>I No ClinGen
ExAC
gnomAD
CA6848589
rs760551034
1597 F>L No ClinGen
ExAC
gnomAD
CA387064266
rs1281826815
1598 F>L No ClinGen
gnomAD
CA6848590
rs766442610
1603 N>K No ClinGen
ExAC
gnomAD
TCGA novel 1604 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767528355
CA244765384
1605 W>C No ClinGen
Ensembl
CA6848591
rs752554885
1606 K>E No ClinGen
ExAC
gnomAD
COSM936275
rs755131976
CA6848592
1608 L>I Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6848607
rs771850728
1610 T>A No ClinGen
ExAC
gnomAD
CA6848608
rs772911607
1610 T>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1612 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6848610
rs369840547
1613 S>C No ClinGen
ESP
ExAC
gnomAD
rs776756136
CA6848611
1613 S>N No ClinGen
ExAC
gnomAD
TCGA novel 1615 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6848615
rs763188648
1624 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1288841206
CA387064477
1627 M>I No ClinGen
gnomAD
CA387064499
rs1271079700
1629 F>I No ClinGen
gnomAD
rs1040371294
CA244765562
CA387064505
1629 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
rs377556294
CA6848636
1633 T>S No ClinGen
ESP
ExAC
gnomAD
CA244765567
rs1051942278
1634 L>P No ClinGen
TOPMed
rs1419058716
CA387064541
1635 Y>* No ClinGen
TOPMed
gnomAD
rs1593662346
CA387064544
1636 V>M No ClinGen
Ensembl
rs1164639248
COSM1359629
CA387064560
1639 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
TCGA novel 1641 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756718707
CA6848640
1642 V>G No ClinGen
ExAC
gnomAD
CA387064582
rs1247882200
1642 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs372567149
CA6848641
1643 F>C No ClinGen
ESP
ExAC
gnomAD
TCGA novel 1644 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758051779
CA6848643
1644 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA387064617
rs777353240
1646 K>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1646 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs371016706
CA6848646
1650 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387064668
rs1276630633
1654 L>* No ClinGen
TOPMed
CA6848649
rs117543414
1656 Q>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs117543414
CA6848648
1656 Q>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA244765606
rs376125787
1658 K>E No ClinGen
ESP
TOPMed
gnomAD
rs374789933
CA6848652
1660 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6848653
rs774478500
1661 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA6848654
rs762115301
1661 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA387064711
rs1414626170
1662 L>M No ClinGen
TOPMed
CA387064728
rs1426859546
1664 N>I No ClinGen
TOPMed
rs1013795802
CA244765618
1664 N>K No ClinGen
TOPMed
gnomAD
TCGA novel 1667 I>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6848657
rs773715097
1667 I>L No ClinGen
ExAC
gnomAD
CA6848656
rs773715097
1667 I>V No ClinGen
ExAC
gnomAD
rs1432263332
CA387064756
1668 T>S No ClinGen
gnomAD
CA6848659
rs752247676
1671 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA6848661
rs763782509
1672 Q>H No ClinGen
ExAC
gnomAD
rs751126982
CA6848662
1673 T>A No ClinGen
ExAC
gnomAD
CA387064796
rs1236018749
1675 E>K No ClinGen
TOPMed
rs1024816135
CA244765648
1677 C>F No ClinGen
TOPMed
gnomAD
rs1443166526
CA387064818
1678 L>V No ClinGen
TOPMed
rs367958993
CA6848667
1680 S>C No ClinGen
ESP
ExAC
gnomAD
CA387064832
rs1368874405
1680 S>P No ClinGen
gnomAD
CA6848664
rs367958993
1680 S>Y No ClinGen
ESP
ExAC
gnomAD
CA387064834
rs1233647385
1681 I>L No ClinGen
gnomAD
rs969847050
CA244765691
1681 I>M No ClinGen
TOPMed
gnomAD
CA387064835
rs1233647385
1681 I>V No ClinGen
gnomAD
rs770283547
CA244765693
1683 N>I No ClinGen
gnomAD
CA387064858
rs1347724828
1684 P>Q No ClinGen
gnomAD
CA387064860
rs1203800403
1685 E>K No ClinGen
gnomAD
CA387064874
rs1284052777
1686 W>* No ClinGen
gnomAD
rs371889114
CA244765697
1687 A>V No ClinGen
ESP
TOPMed
rs192721169
CA6848668
1688 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA387064896
rs1188819113
1689 A>G No ClinGen
gnomAD
CA387064902
rs1593662767
1690 I>V No ClinGen
Ensembl
CA6848669
rs373590239
1692 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387064930
rs1452105518
1693 S>R No ClinGen
gnomAD
CA387064936
rs1555237278
1693 S>T No ClinGen
Ensembl
CA6848670
rs368892317
1696 Q>R No ClinGen
ESP
ExAC
gnomAD
CA244766302
rs931153925
1702 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA387065893
rs750218882
1706 S>A No ClinGen
ExAC
TOPMed
gnomAD
CA6848697
rs750218882
1706 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA6848698
rs750218882
1706 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA6848700
rs779947040
1710 F>C No ClinGen
ExAC
TOPMed
CA387065942
rs1328858161
COSM692567
1710 F>L lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA387065965
rs1048797856
1711 C>* No ClinGen
gnomAD
CA387065961
rs1474652980
1711 C>F No ClinGen
TOPMed
CA6848701
rs201877014
1712 L>F No ClinGen
1000Genomes
ExAC
gnomAD
CA6848702
rs754945133
1715 A>V No ClinGen
ExAC
gnomAD
CA387066021
rs1282642772
1716 E>K No ClinGen
gnomAD
rs868777106
CA244766324
1718 W>* No ClinGen
TOPMed
gnomAD
rs1243628491
CA387066048
1718 W>R No ClinGen
gnomAD
CA6848705
rs202181687
1720 Q>K No ClinGen
1000Genomes
ExAC
gnomAD
CA6848706
rs778179972
1721 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs747353989
CA6848707
1722 I>N No ClinGen
ExAC
CA6848708
rs771375125
1723 P>A No ClinGen
ExAC
gnomAD
rs777086152
CA6848709
1723 P>L No ClinGen
ExAC
gnomAD
CA387066127
rs759894811
1724 S>* No ClinGen
ExAC
gnomAD
CA6848710
rs759894811
1724 S>L No ClinGen
ExAC
gnomAD
CA387066140
rs1370413342
1725 Q>R No ClinGen
gnomAD
rs983949034 1726 D>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs772711216
CA6848733
1726 D>Y No ClinGen
ExAC
CA387066215
rs1380193596
1727 E>K No ClinGen
TOPMed
gnomAD
CA6848734
rs559013460
1729 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6848735
rs766109359
COSM430581
1729 R>H Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6848736
rs369189727
1732 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759415897
CA6848737
1733 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA387066316
rs1257576044
1735 L>V No ClinGen
gnomAD
TCGA novel 1736 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA387066341
rs1484736662
1737 K>Q No ClinGen
gnomAD
CA6848739
rs752631947
1738 K>Q No ClinGen
ExAC
gnomAD
rs759672184
CA6848740
1740 H>R No ClinGen
ExAC
gnomAD
rs1425128748
CA387066406
1741 I>S No ClinGen
gnomAD
CA6848743
rs757408657
1742 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA6848741
rs764204931
1742 Q>K No ClinGen
ExAC
rs751702711
CA6848742
1742 Q>R No ClinGen
ExAC
TOPMed
rs756553539
CA6848746
1744 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6848745
rs746190485
1744 R>W No ClinGen
ExAC
gnomAD
rs966574653
CA244766522
1745 R>* No ClinGen
TOPMed
gnomAD
CA6848747
rs780306479
1745 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA387066461
rs749726386
1746 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA6848748
rs749726386
1746 S>W No ClinGen
ExAC
TOPMed
gnomAD
CA387066475
rs1272541364
1748 T>P No ClinGen
gnomAD
CA387066507
rs1219751774
1750 A>V No ClinGen
gnomAD
CA387066515
rs1314977511
1751 V>A No ClinGen
gnomAD
CA6848750
rs151223138
1751 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs151223138
CA387066509
1751 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1269059157
CA387066547
1754 A>S No ClinGen
gnomAD
CA387066577
rs1212011326
1756 K>N No ClinGen
gnomAD
rs373134120
CA6848754
1757 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1052613813
CA244766557
1758 N>D No ClinGen
Ensembl
rs893531873
CA244766561
1759 T>A No ClinGen
Ensembl
CA6848756
rs775432207
1760 E>* No ClinGen
ExAC
gnomAD
rs775432207
CA387066613
1760 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA387066627
rs1396252480
1761 E>K No ClinGen
TOPMed
CA6848758
rs764186570
1765 V>L No ClinGen
ExAC
gnomAD
rs757403061
COSM384606
CA6848760
1767 G>R lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA387066751
rs1555237885
1771 H>Y No ClinGen
Ensembl
CA6848765
rs749708041
1775 S>G No ClinGen
ExAC
gnomAD
CA6848766
rs755470402
1776 L>P No ClinGen
ExAC
gnomAD
rs1593666545
CA387066834
1777 Y>F No ClinGen
Ensembl
rs542508586
CA6848768
1778 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs770425941
CA6848769
1780 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA6848771
rs376028299
1783 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387066921
rs1231728317
1784 Q>K No ClinGen
gnomAD
CA387066929
rs1593666618
1784 Q>R No ClinGen
Ensembl
CA244766642
rs930721252
1785 R>G No ClinGen
TOPMed
COSM282300
rs1475420874
CA387066944
1785 R>I large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA6848773
rs769346521
1787 Q>E No ClinGen
ExAC
gnomAD
rs775412077
CA6848774
1789 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1555237911
CA387067018
1791 G>V No ClinGen
Ensembl
rs762907888
CA387067034
1793 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA6848775
rs762907888
1793 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA387067052
rs1270558933
1794 Y>F No ClinGen
TOPMed
rs1555237923
CA387067071
1796 D>N No ClinGen
Ensembl
CA387067143
rs1333224278
1797 I>T No ClinGen
gnomAD
CA387067150
rs1156984907
1798 H>Y No ClinGen
TOPMed
CA387067168
rs1400253612
1799 A>V No ClinGen
TOPMed
rs749072956
CA6848792
1800 A>T No ClinGen
ExAC
gnomAD
CA6848793
rs768527036
1800 A>V No ClinGen
ExAC
gnomAD
rs1415936427
CA387067183
1801 A>P No ClinGen
gnomAD
TCGA novel 1803 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6848794
rs774321818
1803 E>V No ClinGen
ExAC
gnomAD
CA6848795
rs761745919
1804 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs529981688
COSM1359633
CA6848797
1806 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1194057844
CA387067277
1808 N>S No ClinGen
TOPMed
rs1258642780
CA387067414
1818 M>I No ClinGen
TOPMed
rs766562256
CA6848800
1819 L>F No ClinGen
ExAC
gnomAD
CA387067421
rs1214447171
1819 L>M No ClinGen
TOPMed
CA6848801
rs754010103
1821 E>Q No ClinGen
ExAC
gnomAD
CA6848802
rs571378777
1823 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA387067484
rs1391993775
1823 W>* No ClinGen
gnomAD
rs373558832
CA244766879
1824 L>R No ClinGen
ESP
TOPMed
gnomAD
rs753014976
CA6848804
1825 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs1318851688
CA387067517
1826 P>L No ClinGen
gnomAD
CA244766886
rs770086755
1826 P>S No ClinGen
Ensembl
rs749919389
CA6848807
1828 T>A No ClinGen
ExAC
gnomAD
CA244766894
rs1052077489
1828 T>I No ClinGen
TOPMed
CA6848808
rs755737986
1829 K>E No ClinGen
ExAC
gnomAD
CA387067555
rs1430283227
1830 P>A No ClinGen
TOPMed
rs7310898
CA6848809
VAR_051085
1830 P>L No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1490630197
CA387068539
1834 P>L No ClinGen
TOPMed
rs751966081
CA6848825
1835 S>* No ClinGen
ExAC
gnomAD
CA387068549
rs757874880
1836 E>A No ClinGen
ExAC
gnomAD
rs757874880
CA6848826
1836 E>V No ClinGen
ExAC
gnomAD
CA6848827
rs765923213
1837 L>S No ClinGen
ExAC
gnomAD
CA6848828
rs753416151
1838 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1184329807
CA387068567
1839 E>Q No ClinGen
gnomAD
rs889169995
CA244772219
1841 Q>* No ClinGen
TOPMed
CA387068581
rs889169995
1841 Q>E No ClinGen
TOPMed
CA6848829
rs754669999
1842 E>K No ClinGen
ExAC
gnomAD
CA387068601
rs1457514515
1843 D>E No ClinGen
gnomAD
CA6848831
rs778467386
1845 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs778467386
CA6848830
1845 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs758075908
CA6848832
1847 R>* No ClinGen
ExAC
gnomAD
CA6848833
COSM936279
rs202054994
1847 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1456539506
CA387068646
1849 V>A No ClinGen
TOPMed
CA6848860
rs563069855
1850 Q>L No ClinGen
1000Genomes
ExAC
gnomAD
CA387068659
rs1482772863
1851 Y>C No ClinGen
gnomAD
CA6848863
rs745926545
1854 L>P No ClinGen
ExAC
gnomAD
rs374343598
CA6848865
1855 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs769714305
CA6848864
1855 S>P No ClinGen
ExAC
gnomAD
rs1174501490
CA387068682
1856 R>C No ClinGen
gnomAD
CA6848866
rs367873698
COSM936280
1856 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA387068685
rs367873698
1856 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1407816003
CA387068696
1858 I>T No ClinGen
gnomAD
rs768939060
CA6848867
1858 I>V No ClinGen
ExAC
gnomAD
rs549074031
CA6848869
1859 D>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6848868
rs774847008
1859 D>Y No ClinGen
ExAC
gnomAD
CA387068708
rs930931941
1860 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA244773399
rs930931941
1860 Y>F No ClinGen
TOPMed
CA6848870
rs772681792
1860 Y>H No ClinGen
ExAC
gnomAD
rs371795435
CA6848871
1866 F>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1346903835
CA387068757
1867 V>A No ClinGen
gnomAD
CA387068785
rs578088874
1872 T>A No ClinGen
TOPMed
gnomAD
rs578088874
CA244773405
1872 T>P No ClinGen
TOPMed
gnomAD
CA6848872
rs761271707
1874 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA6848873
rs764584293
1874 T>N No ClinGen
ExAC
gnomAD
CA387069430
rs1465967227
1877 G>S No ClinGen
gnomAD
CA387069455
rs1181100198
1878 M>I No ClinGen
gnomAD
rs1472430896
CA387069444
1878 M>V No ClinGen
TOPMed
gnomAD
rs550193120
CA244774852
1880 Q>K No ClinGen
1000Genomes
TOPMed
gnomAD
rs1387551839
CA387069525
1882 T>I No ClinGen
gnomAD
rs372450429
CA6848896
1884 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6848897
rs762564992
1887 T>A No ClinGen
ExAC
gnomAD
rs185213045
CA6848898
1888 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1371853741
CA387069656
1891 Q>R No ClinGen
gnomAD
CA244774860
rs941483494
1892 C>Y No ClinGen
TOPMed
gnomAD
CA6848899
rs751166784
1894 F>L No ClinGen
ExAC
gnomAD
CA6848901
rs767236759
1895 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA6848900
rs761485749
1895 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs563941779
CA6848902
1897 A>S No ClinGen
ExAC
gnomAD
CA6848903
rs755995647
1898 D>G No ClinGen
ExAC
gnomAD
CA387069756
rs1289273519
1900 E>K No ClinGen
gnomAD
rs753836417
CA6848905
1902 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs931916476
CA244774897
1902 I>V No ClinGen
TOPMed
gnomAD
rs779163066
CA6848907
1904 S>P No ClinGen
ExAC
gnomAD
CA6848908
rs748310550
1904 S>Y No ClinGen
ExAC
gnomAD
rs1482968730
CA387069810
1905 L>V No ClinGen
gnomAD
rs1555239969
CA387069819
1906 F>L No ClinGen
Ensembl
rs778267811
CA6848910
1907 K>* No ClinGen
ExAC
gnomAD
CA387069866
rs1470978655
1910 I>T No ClinGen
gnomAD
rs535800130
CA6848912
1913 V>G No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 1913 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6848925
rs546052261
1915 S>F No ClinGen
1000Genomes
ExAC
gnomAD
rs758689741
CA6848927
1917 L>S No ClinGen
ExAC
gnomAD
rs564272380
CA6848926
1917 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 1918 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778180060
CA6848928
1919 C>R No ClinGen
ExAC
gnomAD
rs747314540
CA6848929
1919 C>Y No ClinGen
ExAC
gnomAD
rs1318660800
CA387070014
1921 T>A No ClinGen
gnomAD
CA244775229
rs941338409
1922 F>S No ClinGen
TOPMed
gnomAD
CA387070047
rs1339142824
1924 A>V No ClinGen
TOPMed
TCGA novel 1925 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA387070086
rs1343380497
1928 T>A No ClinGen
gnomAD
rs1262162347
CA387070134
1932 P>S No ClinGen
gnomAD
rs757593737
CA6848930
1935 Y>C No ClinGen
ExAC
gnomAD
rs975917410
CA244775274
1936 E>K No ClinGen
Ensembl
rs770302256
CA6848934
1938 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1476948976
CA387070230
1942 P>L No ClinGen
gnomAD
CA387070233
rs1593683160
1943 K>E No ClinGen
Ensembl
CA387070235
rs1429688832
1943 K>R No ClinGen
gnomAD
CA387070247
rs1326790260
1945 G>R No ClinGen
TOPMed
CA387070254
rs1593683183
1946 M>V No ClinGen
Ensembl
CA387070263
rs1166647148
1947 I>V No ClinGen
Ensembl
CA387070308
rs1593683208
1953 N>T No ClinGen
Ensembl
CA6848937
rs771686077
1954 H>P No ClinGen
ExAC
gnomAD
CA6848938
rs772868295
1955 S>N No ClinGen
ExAC
gnomAD
rs766129434
CA6848940
1956 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs760272902
CA6848939
1956 H>Y No ClinGen
ExAC
TOPMed
rs759532010
COSM261707
CA6848942
1957 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765331209
CA6848943
1958 S>C No ClinGen
ExAC
gnomAD
rs1050913636
CA244775341
1959 M>V No ClinGen
TOPMed
gnomAD
CA244776402
rs941657022
1960 A>T No ClinGen
Ensembl
CA387070449
rs1221739081
1963 L>M No ClinGen
gnomAD
CA6848959
rs746612190
1964 V>A No ClinGen
ExAC
gnomAD
CA6848958
rs777150263
1964 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA387070468
rs1202718952
1965 T>A No ClinGen
TOPMed
gnomAD
rs1202718952
CA387070470
1965 T>S No ClinGen
TOPMed
gnomAD
CA387070522
rs1419917111
1970 E>Q No ClinGen
gnomAD
rs1366801672
CA387070539
1971 Y>F No ClinGen
gnomAD
rs201126027
CA244776445
1971 Y>H No ClinGen
1000Genomes
rs200898021
CA6848963
1974 Y>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6848964
rs376634701
1976 L>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs944298357
CA244776474
1977 Q>* No ClinGen
gnomAD
CA387070641
rs1397602245
1980 N>K No ClinGen
gnomAD
CA387070638
rs1297157195
1980 N>S No ClinGen
TOPMed
rs1395569241
CA387070658
1982 L>H No ClinGen
gnomAD
CA6848966
rs764170655
1984 Q>* No ClinGen
ExAC
TOPMed
gnomAD
COSM1193296
CA6848967
rs574096690
1986 L>F lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
rs1566018655
CA387070703
1986 L>R No ClinGen
Ensembl
CA6848968
rs371165754
1987 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373000158
CA6848969
1990 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs750759642
CA6848970
1991 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs1305088197
CA387070804
1992 I>M No ClinGen
TOPMed
rs1391708995
CA387070797
1992 I>V No ClinGen
TOPMed
CA387070936
rs1379649718
2004 S>I No ClinGen
TOPMed
rs974198395
CA244776814
2004 S>R No ClinGen
TOPMed
rs201035166
CA6848979
2005 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA387070957
rs929054140
2006 H>P No ClinGen
TOPMed
gnomAD
CA244776825
rs929054140
2006 H>R No ClinGen
TOPMed
gnomAD
rs1375782753
CA387070954
2006 H>Y No ClinGen
TOPMed
CA387070989
rs1307918319
2009 W>* No ClinGen
gnomAD
CA387071152
rs1408082244
2013 Y>H No ClinGen
gnomAD
rs375695284
CA387071170
2015 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375695284
CA6849002
2015 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6849003
rs768610076
2016 K>T No ClinGen
ExAC
gnomAD
rs368483300
CA6849004
2017 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs748143502
CA6849005
2017 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA244779441
rs372428419
2019 Q>R No ClinGen
ESP
TOPMed
gnomAD
CA6849007
rs773290474
2020 R>C No ClinGen
ExAC
gnomAD
rs375343576
CA6849008
2020 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375343576
CA6849009
2020 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6849010
rs11837038
VAR_051086
2021 V>G No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs759866115
CA6849011
2022 I>V No ClinGen
ExAC
gnomAD
rs1243844350
CA387071216
2023 Q>E No ClinGen
TOPMed
gnomAD
CA387071220
rs1315017017
2023 Q>R No ClinGen
gnomAD
CA244779486
rs888128043
2024 I>M No ClinGen
TOPMed
gnomAD
rs1360831724
CA387071232
2025 P>Q No ClinGen
gnomAD
rs753104607
CA6849013
2026 L>M No ClinGen
ExAC
gnomAD
rs1421337817
CA387071274
2030 S>F No ClinGen
gnomAD
rs764767020
CA6849043
2031 C>F No ClinGen
ExAC
gnomAD
CA387071290
rs1295036431
2033 L>* No ClinGen
TOPMed
rs755737784
CA6849045
2035 P>A No ClinGen
ExAC
gnomAD
CA387071307
rs1451235839
2035 P>L No ClinGen
TOPMed
CA387071304
rs755737784
2035 P>S No ClinGen
ExAC
gnomAD
CA387071323
rs1432065850
2037 Q>H No ClinGen
gnomAD
CA387071327
rs1272298085
2038 L>P No ClinGen
gnomAD
rs989486439
CA244779723
2041 C>G No ClinGen
Ensembl
rs961447821
CA244779724
2046 I>T No ClinGen
TOPMed
rs1262117437
CA387071380
2046 I>V No ClinGen
gnomAD
CA387071384
rs1201652948
2047 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA6849046
rs151134699
2048 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6849048
rs528094170
2050 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA387071427
rs1455044555
2051 C>W No ClinGen
gnomAD
rs751430815
CA6849076
2055 G>C No ClinGen
ExAC
gnomAD
TCGA novel 2055 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA387071460
rs1388164722
2055 G>V No ClinGen
gnomAD
rs1326427816
CA387071463
2056 D>N No ClinGen
gnomAD
CA6849078
rs757199881
2059 L>V No ClinGen
ExAC
gnomAD
CA6849079
rs560306260
2060 I>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA387071516
rs780374419
2061 G>* No ClinGen
ExAC
TOPMed
gnomAD
rs780374419
CA6849081
2061 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs769105761
CA244781287
2063 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs769105761
CA6849083
2063 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA387071563
rs1396063247
2066 Y>C No ClinGen
TOPMed
rs1175802785
CA387071570
2067 I>L No ClinGen
TOPMed
CA6849085
rs377336279
2072 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6849087
rs370269719
2072 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6849084
rs377336279
2072 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6849086
rs377336279
2072 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759133271
CA387071640
2073 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs759133271
CA6849088
2073 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA6849091
rs752304640
2075 A>V No ClinGen
ExAC
gnomAD
rs1370618254
CA387071688
2077 A>V No ClinGen
gnomAD
rs751404199
CA6849094
2078 C>* No ClinGen
ExAC
TOPMed
gnomAD
CA244781354
rs1026377702
2078 C>S No ClinGen
TOPMed
rs750453851
CA6849097
2082 M>R No ClinGen
ExAC
gnomAD
CA6849096
rs767556658
2082 M>V No ClinGen
ExAC
gnomAD
rs756158800
CA6849098
2083 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs779999542
CA6849099
2084 H>N No ClinGen
ExAC
gnomAD
TCGA novel 2085 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6849101
rs755269609
2086 E>* No ClinGen
ExAC
gnomAD
CA6849102
rs368756882
2087 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1200686818
CA387071900
2090 Q>R No ClinGen
gnomAD
rs1566023288
CA387071923
2092 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1218247088
CA387071949
2093 K>R No ClinGen
TOPMed
gnomAD
CA6849118
rs755251263
2094 N>Y No ClinGen
ExAC
gnomAD
TCGA novel 2096 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1195453661
CA387072174
2099 C>G No ClinGen
gnomAD
rs367860451
CA6849120
2102 Q>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1027418383
CA244782381
2103 V>A No ClinGen
TOPMed
CA6849121
rs186319199
2103 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA387072226
rs186319199
2103 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs186319199
CA387072224
2103 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1180117195
CA387072245
2105 L>V No ClinGen
TOPMed
CA244782389
rs944395463
2111 H>L No ClinGen
Ensembl
rs910239224
CA244782385
2111 H>N No ClinGen
Ensembl
rs778031720
CA6849122
2112 M>I No ClinGen
ExAC
gnomAD
TCGA novel 2112 M>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6849123
rs375970712
2113 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6849124
rs771390477
COSM936283
2114 T>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771390477
CA387072371
2114 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs748863249
CA6849126
2115 G>R No ClinGen
ExAC
gnomAD
TCGA novel 2115 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1434971875
CA387072381
2116 Q>* No ClinGen
gnomAD
rs773933138
CA6849128
2119 G>V No ClinGen
ExAC
gnomAD
CA6849130
rs767299452
2120 F>L No ClinGen
ExAC
gnomAD
CA387072440
rs1315191457
2121 S>A No ClinGen
gnomAD
rs1052604960
CA244782459
2122 H>Y No ClinGen
TOPMed
gnomAD
rs772901770
CA6849131
2123 Q>E No ClinGen
ExAC
gnomAD
CA387072840
rs1360602448
2124 I>M No ClinGen
gnomAD
rs778177496
CA6849141
2125 R>G No ClinGen
ExAC
gnomAD
rs1234108799
CA387072859
2126 S>N No ClinGen
gnomAD
CA387072853
rs1248061743
2126 S>R No ClinGen
gnomAD
CA244782855
rs893995810
2128 I>M No ClinGen
Ensembl
CA6849143
rs757777671
2131 N>S No ClinGen
ExAC
gnomAD
rs781706275
CA6849144
2133 I>V No ClinGen
ExAC
gnomAD
CA6849145
rs375738921
2134 N>S No ClinGen
ExAC
gnomAD
TCGA novel 2135 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1384455918
CA387072989
2136 K>* No ClinGen
gnomAD
rs1349692301
CA387073035
2139 G>R No ClinGen
TOPMed
CA387073029
rs1349692301
2139 G>W No ClinGen
TOPMed
TCGA novel 2140 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6849147
rs768085665
2140 I>T No ClinGen
ExAC
gnomAD
CA6849148
rs778423506
2141 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1425795357
CA387073077
2143 K>E No ClinGen
TOPMed
CA387073101
rs1178254213
2145 K>E No ClinGen
TOPMed
rs771666485
CA387073106
2145 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs771666485
CA6849150
2145 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA387073123
rs1332134652
2146 Y>* No ClinGen
gnomAD
rs773059288
CA6849152
2148 Q>E No ClinGen
ExAC
rs1593700178
CA387073189
2151 K>R No ClinGen
Ensembl
rs1379135018
CA387073202
2152 M>T No ClinGen
gnomAD
CA6849153
rs760448774
2154 A>V Variant assessed as Somatic; 5.444e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1380399900
CA387073249
2156 N>D No ClinGen
gnomAD
CA387073270
rs1230362396
2157 T>I No ClinGen
gnomAD
CA6849155
rs776645941
2158 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA6849156
rs759579256
2159 N>S No ClinGen
ExAC
gnomAD
rs1481570192
CA387073300
2160 I>V No ClinGen
gnomAD
rs1258154886
CA387073313
2161 T>A No ClinGen
gnomAD
rs1258154886
CA387073312
2161 T>P No ClinGen
gnomAD
CA387073320
rs1458702457
2162 E>* No ClinGen
gnomAD
CA244782899
rs865850354
2162 E>D No ClinGen
Ensembl
rs942713528
CA244782916
2168 A>T No ClinGen
TOPMed
gnomAD
rs752769547
CA6849158
2169 N>D No ClinGen
ExAC
gnomAD
rs763204458
CA6849159
2170 D>E No ClinGen
ExAC
gnomAD
CA6849161
rs541055107
2171 L>I No ClinGen
1000Genomes
ExAC
TOPMed
CA244784461
rs556830713
2172 S>R No ClinGen
Ensembl
rs770812752
CA6849179
2173 L>S No ClinGen
ExAC
TOPMed
gnomAD
rs1404169360
CA387074023
2174 D>G No ClinGen
gnomAD
COSM546880
CA6849180
rs776590958
2176 A>T lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA387074070
rs1323493661
2176 A>V No ClinGen
TOPMed
gnomAD
rs1566026462
CA387074075
2177 S>P No ClinGen
Ensembl
rs745779007
CA387074092
2178 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6849182
rs745779007
2178 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1300386943
CA387074140
2180 I>M No ClinGen
gnomAD
CA6849185
rs762999729
2180 I>T No ClinGen
ExAC
gnomAD
CA6849184
rs199778988
2180 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1327325647
CA387074151
2181 T>S No ClinGen
Ensembl
TCGA novel 2184 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1221238034
CA387074185
2184 S>L No ClinGen
gnomAD
rs377549886
CA6849186
2184 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6849187
rs774367572
2185 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs762051647
CA6849188
2185 K>N No ClinGen
ExAC
gnomAD
CA244784549
rs923310288
2185 K>R No ClinGen
Ensembl
CA387074225
rs1220946589
2187 C>G No ClinGen
gnomAD
CA6849190
rs368918534
2188 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 2190 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6849193
rs766503150
2191 V>L No ClinGen
ExAC
gnomAD
rs757783372
CA6849194
2193 P>A No ClinGen
ExAC
TOPMed
CA6849195
rs79125234
2195 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1384714767
CA387074408
2196 A>S No ClinGen
TOPMed
rs1164352871
CA387074414
2196 A>V No ClinGen
TOPMed
rs1555242481
CA387074436
2197 P>L No ClinGen
Ensembl
rs140880563
CA6849196
2200 I>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA387074751
rs1165491349
2203 M>I No ClinGen
TOPMed
CA6849222
rs768685653
2203 M>R No ClinGen
ExAC
gnomAD
CA6849221
rs201608746
2203 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA387074800
rs1411599369
2205 L>R No ClinGen
TOPMed
CA244785827
rs1038106238
2206 S>G No ClinGen
TOPMed
rs1188715553
CA387074836
2207 G>E No ClinGen
gnomAD
rs1473725173
CA387074831
2207 G>R No ClinGen
TOPMed

No associated diseases with P50748

2 regional properties for P50748

Type Name Position InterPro Accession
domain RZZ complex, subunit KNTC1/ROD, C-terminal 487 - 915 IPR019527-1
domain RZZ complex, subunit KNTC1/ROD, C-terminal 1581 - 2129 IPR019527-2

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Nucleus
  • Chromosome, centromere, kinetochore
  • Cytoplasm, cytoskeleton, spindle
  • Dynamic pattern of localization during the cell cycle
  • At interphase, uniformly distributed throughout the cytoplasm and nucleus
  • By prophase and until late stages of prometaphase, a fraction of the total pool is concentrated at kinetochores
  • By metaphase, detected at kinetochores, along spindle fibers and most prominently at the poles
  • By late anaphase until the end of telophase, no longer detectable on kinetochores or along spindle fibers, but still present at the spindle poles
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

8 GO annotations of cellular component

Name Definition
actin cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
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.
kinetochore microtubule Any of the spindle microtubules that attach to the kinetochores of chromosomes by their plus ends, and maneuver the chromosomes during mitotic or meiotic chromosome segregation.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
RZZ complex A kinetochore component required for both meiotic and mitotic spindle assembly checkpoints.
spindle pole Either of the ends of a spindle, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules.

1 GO annotations of molecular function

Name Definition
small GTPase binding Binding to a small monomeric GTPase.

6 GO annotations of biological process

Name Definition
cell division The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
mitotic sister chromatid segregation The cell cycle process in which replicated homologous chromosomes are organized and then physically separated and apportioned to two sets during the mitotic cell cycle. Each replicated chromosome, composed of two sister chromatids, aligns at the cell equator, paired with its homologous partner. One homolog of each morphologic type goes into each of the resulting chromosome sets.
mitotic spindle assembly checkpoint signaling A signal transduction process that contributes to a mitotic cell cycle spindle assembly checkpoint, that delays the metaphase/anaphase transition of a mitotic nuclear division until the spindle is correctly assembled and chromosomes are attached to the spindle.
protein localization to kinetochore involved in kinetochore assembly Any protein localization to kinetochore that is involved in kinetochore assembly.
protein-containing complex assembly The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex.
regulation of exit from mitosis Any process involved in the progression from anaphase/telophase to G1 that is associated with a conversion from high to low mitotic CDK activity.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MWNDIELLTN DDTGSGYLSV GSRKEHGTAL YQVDLLVKIS SEKASLNPKI QACSLSDGFI
70 80 90 100 110 120
IVADQSVILL DSICRSLQLH LVFDTEVDVV GLCQEGKFLL VGERSGNLHL IHVTSKQTLL
130 140 150 160 170 180
TNAFVQKAND ENRRTYQNLV IEKDGSNEGT YYMLLLTYSG FFCITNLQLL KIQQAIENVD
190 200 210 220 230 240
FSTAKKLQGQ IKSSFISTEN YHTLGCLSLV AGDLASEVPV IIGGTGNCAF SKWEPDSSKK
250 260 270 280 290 300
GMTVKNLIDA EIIKGAKKFQ LIDNLLFVLD TDNVLSLWDI YTLTPVWNWP SLHVEEFLLT
310 320 330 340 350 360
TEADSPSSVT WQGITNLKLI ALTASANKKM KNLMVYSLPT MEILYSLEVS SVSSLVQTGI
370 380 390 400 410 420
STDTIYLLEG VCKNDPKLSE DSVSVLVLRC LTEALPENRL SRLLHKHRFA EAESFAIQFG
430 440 450 460 470 480
LDVELVYKVK SNHILEKLAL SSVDASEQTE WQQLVDDAKE NLHKIQDDEF VVNYCLKAQW
490 500 510 520 530 540
ITYETTQEML NYAKTRLLKK EDKTALIYSD GLKEVLRAHA KLTTFYGAFG PEKFSGSSWI
550 560 570 580 590 600
EFLNNEDDLK DIFLQLKEGN LVCAQYLWLR HRANFESRFD VKMLESLLNS MSASVSLQKL
610 620 630 640 650 660
CPWFKNDVIP FVRRTVPEGQ IILAKWLEQA ARNLELTDKA NWPENGLQLA EIFFTAEKTD
670 680 690 700 710 720
ELGLASSWHW ISLKDYQNTE EVCQLRTLVN NLRELITLHR KYNCKLALSD FEKENTTTIV
730 740 750 760 770 780
FRMFDKVLAP ELIPSILEKF IRVYMREHDL QEEELLLLYI EDLLNRCSSK STSLFETAWE
790 800 810 820 830 840
AKAMAVIACL SDTDLIFDAV LKIMYAAVVP WSAAVEQLVK QHLEMDHPKV KLLQESYKLM
850 860 870 880 890 900
EMKKLLRGYG IREVNLLNKE IMRVVRYILK QDVPSSLEDA LKVAQAFMLS DDEIYSLRII
910 920 930 940 950 960
DLIDREQGED CLLLLKSLPP AEAEKTAERV IIWARLALQE EPDHSKEGKA WRMSVAKTSV
970 980 990 1000 1010 1020
DILKILCDIQ KDNLQKKDEC EEMLKLFKEV ASLQENFEVF LSFEDYSNSS LVADLREQHI
1030 1040 1050 1060 1070 1080
KAHEVAQAKH KPGSTPEPIA AEVRSPSMES KLHRQALALQ MSKQELEAEL TLRALKDGNI
1090 1100 1110 1120 1130 1140
KTALKKCSDL FKYHCNADTG KLLFLTCQKL CQMLADNVPV TVPVGLNLPS MIHDLASQAA
1150 1160 1170 1180 1190 1200
TICSPDFLLD ALELCKHTLM AVELSRQCQM DDCGILMKAS FGTHKDPYEE WSYSDFFSED
1210 1220 1230 1240 1250 1260
GIVLESQMVL PVIYELISSL VPLAESKRYP LESTSLPYCS LNEGDGLVLP VINSISALLQ
1270 1280 1290 1300 1310 1320
NLQESSQWEL ALRFVVGSFG TCLQHSVSNF MNATLSEKLF GETTLVKSRH VVMELKEKAV
1330 1340 1350 1360 1370 1380
IFIRENATTL LHKVFNCRLV DLDLALGYCT LLPQKDVFEN LWKLIDKAWQ NYDKILAISL
1390 1400 1410 1420 1430 1440
VGSELASLYQ EIEMGLKFRE LSTDAQWGIR LGKLGISFQP VFRQHFLTKK DLIKALVENI
1450 1460 1470 1480 1490 1500
DMDTSLILEY CSTFQLDCDA VLQLFIETLL HNTNAGQGQG DASMDSAKRR HPKLLAKALE
1510 1520 1530 1540 1550 1560
MVPLLTSTKD LVISLSGILH KLDPYDYEMI EVVLKVIERA DEKITNININ QALSILKHLK
1570 1580 1590 1600 1610 1620
SYRRISPPVD LEYQYMLEHV ITLPSAAQTR LPFHLIFFGT AQNFWKILST ELSEESFPTL
1630 1640 1650 1660 1670 1680
LLISKLMKFS LDTLYVSTAK HVFEKKLKPK LLKLTQAKSS TLINKEITKI TQTIESCLLS
1690 1700 1710 1720 1730 1740
IVNPEWAVAI AISLAQDIPE GSFKISALKF CLYLAERWLQ NIPSQDEKRE KAEALLKKLH
1750 1760 1770 1780 1790 1800
IQYRRSGTEA VLIAHKLNTE EYLRVIGKPA HLIVSLYEHP SINQRIQNSS GTDYPDIHAA
1810 1820 1830 1840 1850 1860
AKEIAEVNEI NLEKVWDMLL EKWLCPSTKP GEKPSELFEL QEDEALRRVQ YLLLSRPIDY
1870 1880 1890 1900 1910 1920
SSRMLFVFAT STTTTLGMHQ LTFAHRTRAL QCLFYLADKE TIESLFKKPI EEVKSYLRCI
1930 1940 1950 1960 1970 1980
TFLASFETLN IPITYELFCS SPKEGMIKGL WKNHSHESMA VRLVTELCLE YKIYDLQLWN
1990 2000 2010 2020 2030 2040
GLLQKLLGFN MIPYLRKVLK AISSIHSLWQ VPYFSKAWQR VIQIPLLSAS CPLSPDQLSD
2050 2060 2070 2080 2090 2100
CSESLIAVLE CPVSGDLDLI GVARQYIQLE LPAFALACLM LMPHSEKRHQ QIKNFLGSCD
2110 2120 2130 2140 2150 2160
PQVILKQLEE HMNTGQLAGF SHQIRSLILN NIINKKEFGI LAKTKYFQML KMHAMNTNNI
2170 2180 2190 2200
TELVNYLAND LSLDEASVLI TEYSKHCGKP VPPDTAPCEI LKMFLSGLS