Descriptions

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

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q96EK7

Entry ID Method Resolution Chain Position Source
AF-Q96EK7-F1 Predicted AlphaFoldDB

825 variants for Q96EK7

Variant ID(s) Position Change Description Diseaes Association Provenance
rs752739024
CA4107286
5 G>S No ClinGen
ExAC
gnomAD
rs1562518720
CA366510805
7 Q>* No Ensembl
ClinGen
rs758461067
CA4107287
7 Q>R No ClinGen
ExAC
gnomAD
rs963115908
CA152211227
10 V>L No TOPMed
ClinGen
CA4107288
rs777875188
14 C>Y No ExAC
gnomAD
ClinGen
CA366510860
rs1374343804
15 P>Q No ClinGen
TOPMed
CA4107289
rs747221521
16 H>Q No ExAC
gnomAD
ClinGen
CA366510870
rs113843282
17 I>L No ClinGen
gnomAD
rs113843282
CA152211242
17 I>V No gnomAD
ClinGen
rs1300987430
CA366510881
18 C>Y No gnomAD
ClinGen
rs1343581981
CA366510889
19 T>I No ClinGen
gnomAD
CA4107290
rs769648574
21 V>A No ClinGen
ExAC
gnomAD
CA366510902
rs1273038983
22 N>D No ClinGen
gnomAD
CA366510911
rs1583187800
23 F>V No Ensembl
ClinGen
CA4107291
rs779797618
25 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs1248722155
CA366510943
28 E>K No ClinGen
gnomAD
CA366510952
rs1190470116
29 H>Y No ClinGen
gnomAD
rs1457853250
CA366510961
30 H>Y No TOPMed
ClinGen
rs774306994
CA4107294
31 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA4107296
rs761235189
31 R>L No ExAC
TOPMed
gnomAD
ClinGen
rs761235189
COSM2855639
COSM3829702
CA4107295
31 R>Q Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1418294738
CA366510989
34 Y>C No TOPMed
ClinGen
CA4107299
rs766887666
39 P>L No ClinGen
ExAC
gnomAD
rs760399148
CA4107298
39 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA366511061
COSM1076204
rs1433348074
45 A>V Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA152211266
rs759893776
46 M>L No ClinGen
ExAC
gnomAD
rs372574876
CA4107302
46 M>T No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA4107301
rs759893776
46 M>V No ExAC
gnomAD
ClinGen
rs758468497
CA4107304
51 Y>H No ClinGen
ExAC
gnomAD
rs777830014
CA4107305
52 W>G No ExAC
gnomAD
ClinGen
CA366511107
rs1317863903
52 W>L No ClinGen
gnomAD
CA366511117
rs1188902620
53 Y>F No TOPMed
ClinGen
rs201959577
CA366511127
55 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs201959577
CA4107306
55 P>S No ExAC
TOPMed
gnomAD
ClinGen
CA152211275
rs989116731
57 S>P No TOPMed
ClinGen
rs781343182
CA4107308
61 G>S No ExAC
TOPMed
gnomAD
ClinGen
CA4107309
rs749070500
62 G>D No ExAC
TOPMed
gnomAD
ClinGen
rs749070500
CA4107310
62 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs986170411
CA152211281
63 Q>R No ClinGen
Ensembl
TCGA novel 64 W>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4107311
rs778728624
65 R>* No ExAC
gnomAD
ClinGen
rs535405359
CA4107312
65 R>Q No 1000Genomes
ExAC
gnomAD
ClinGen
CA366511217
rs1473068237
68 F>S No ClinGen
gnomAD
COSM208003
CA4107313
rs771547946
72 R>* Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
NCI-TCGA
CA4107314
rs772816555
72 R>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 73 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770725139
CA4107316
75 V>A No ExAC
gnomAD
ClinGen
CA366511258
rs1299308307
75 V>I No ClinGen
TOPMed
CA152211289
rs919393211
79 T>A No ClinGen
Ensembl
CA4107317
rs776380252
79 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA152211293
rs930833950
80 A>S No Ensembl
ClinGen
rs765623857
CA4107319
81 A>G No ExAC
gnomAD
ClinGen
rs1300635948
CA366511304
82 G>V No ClinGen
TOPMed
rs80133608
CA4107321
83 I>V No ExAC
gnomAD
ClinGen
CA366511311
rs1360297909
84 K>Q No TOPMed
ClinGen
TCGA novel 85 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4107322
rs764210885
85 L>M No ClinGen
ExAC
gnomAD
CA366511327
rs1377074628
86 I>L No gnomAD
ClinGen
CA152211302
rs548406634
87 F>L No Ensembl
ClinGen
rs1466255594
CA366511332
87 F>L No ClinGen
TOPMed
rs751662115
CA4107323
89 F>L No ClinGen
ExAC
gnomAD
CA366511367
rs1378965583
91 G>D No ClinGen
TOPMed
rs1289245645
CA366511372
92 M>T No gnomAD
ClinGen
rs1173483339
CA366511369
92 M>V No ClinGen
TOPMed
rs1479852978
CA366511377
93 V>M No TOPMed
ClinGen
rs201436299
CA4107326
96 D>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs372177611
CA4107325
96 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1264227061
CA366511406
97 K>E No ClinGen
gnomAD
TCGA novel 98 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1472197938
CA366511425
99 D>E No TOPMed
gnomAD
ClinGen
rs778762247
CA4107328
99 D>G No ExAC
gnomAD
ClinGen
rs937395904
CA152211310
99 D>N No TOPMed
ClinGen
CA4107329
rs748076725
101 W>* No ExAC
TOPMed
ClinGen
CA4107330
rs758384293
102 V>M No ExAC
gnomAD
ClinGen
rs1254524549
CA366511447
103 K>* No TOPMed
ClinGen
CA152211316
rs747424745
104 R>* No TOPMed
ClinGen
rs777800651
COSM3430353
COSM3430352
CA4107331
104 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs746546544
CA4107332
105 R>S No ExAC
gnomAD
ClinGen
CA4107333
rs770496011
106 L>P No ClinGen
ExAC
gnomAD
rs776487833
CA4107334
107 K>E No ExAC
gnomAD
ClinGen
rs1280161412
CA366511472
107 K>R No ClinGen
TOPMed
TCGA novel 107 K>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA366511476
rs1217355247
108 N>H No ClinGen
TOPMed
CA366511488
rs1562519320
109 N>S No Ensembl
ClinGen
TCGA novel 111 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1414300233
CA366511508
112 I>V No ClinGen
gnomAD
CA152211325
rs904966764
113 S>P No ClinGen
TOPMed
gnomAD
CA4107336
rs770100452
113 S>Y No ClinGen
ExAC
gnomAD
rs763179480
CA4107338
114 R>S No ExAC
TOPMed
gnomAD
ClinGen
rs1223324864
CA366511528
115 I>T No gnomAD
ClinGen
TCGA novel 119 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764617377
CA4107339
120 K>R No ExAC
gnomAD
ClinGen
rs1005120731
CA152211334
121 S>P No TOPMed
ClinGen
rs1220703316
CA366511577
122 H>P No ClinGen
gnomAD
rs200797523
CA4107340
123 K>R No ClinGen
1000Genomes
ExAC
gnomAD
CA366511596
rs1253323045
124 E>D No gnomAD
ClinGen
CA366511589
rs1205329510
124 E>K No TOPMed
gnomAD
ClinGen
rs767569996
CA4107342
125 Q>* No ClinGen
ExAC
gnomAD
rs867802554
CA152211341
127 G>S No TOPMed
gnomAD
ClinGen
CA366511634
rs1407024180
130 M>T No ClinGen
TOPMed
gnomAD
rs1377800794
CA366511640
131 F>L No gnomAD
ClinGen
TCGA novel 132 F>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1174655620
CA366511660
133 I>N No gnomAD
ClinGen
TCGA novel 133 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1423734434
CA366511677
136 G>E No gnomAD
ClinGen
rs764989085
CA4107345
138 A>S No ClinGen
ExAC
gnomAD
rs1253797910
CA366511711
142 R>* No ClinGen
TOPMed
COSM1076208
CA366511712
rs1203344771
142 R>Q Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs149247236
CA152211349
143 F>C No ESP
gnomAD
ClinGen
CA152211347
rs771356096
143 F>L No ClinGen
Ensembl
rs1331852311
CA366511730
145 L>P No gnomAD
ClinGen
CA366511727
rs1328475235
145 L>V No ClinGen
TOPMed
gnomAD
CA366511748
rs1272849943
148 L>R No gnomAD
ClinGen
TCGA novel 149 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA152211354
rs779176351
150 Q>R No Ensembl
ClinGen
CA4107347
rs758222570
151 E>G No ClinGen
ExAC
gnomAD
rs1339490783
CA366511783
153 L>F No TOPMed
gnomAD
ClinGen
CA4107349
rs777855786
155 S>Y No ClinGen
ExAC
gnomAD
rs756898165
CA366511807
157 Q>P No ExAC
TOPMed
gnomAD
ClinGen
CA4107351
rs756898165
157 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs780725538
CA4107352
159 A>P No ExAC
gnomAD
ClinGen
rs745561142
CA4107353
161 Y>D No ClinGen
ExAC
TOPMed
gnomAD
CA366511839
rs1339148162
162 E>K No TOPMed
ClinGen
rs769513162
CA4107354
163 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA366511847
rs769513162
163 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA4107355
rs779533323
166 Y>C No ExAC
gnomAD
ClinGen
COSM1442351
CA4107356
rs749658778
167 G>D Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA366511871
rs1427933888
167 G>S No ClinGen
gnomAD
rs774898725
CA4107358
173 L>F No ExAC
gnomAD
ClinGen
TCGA novel 178 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760622450
CA4107362
182 Y>* No ClinGen
ExAC
gnomAD
CA152211373
rs896172770
182 Y>C No ClinGen
Ensembl
rs1266969362
CA366511995
185 Y>C No ClinGen
Ensembl
CA366512016
rs1226113160
188 C>F No ClinGen
gnomAD
CA366512017
rs1226113160
188 C>S No ClinGen
gnomAD
CA4107363
rs144379180
189 P>A No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs753938681
CA4107364
190 Y>C No ExAC
gnomAD
ClinGen
rs759861324
CA152211382
193 I>T No ClinGen
Ensembl
CA152211380
rs967845294
193 I>V No gnomAD
ClinGen
CA4107368
rs751590046
COSM280935
195 E>K large_intestine endometrium [Cosmic] No ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
CA366512076
rs1448197798
197 C>Y No TOPMed
gnomAD
ClinGen
rs757243123
CA4107369
199 E>* No ExAC
gnomAD
ClinGen
rs780946023
CA4107370
199 E>G No ClinGen
ExAC
gnomAD
TCGA novel 203 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4107371
rs374637654
203 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755513140
CA366512119
204 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA4107372
rs755513140
COSM1698311
204 V>I skin [Cosmic] No ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
rs572861917
CA4107374
205 M>R No 1000Genomes
ExAC
TOPMed
ClinGen
rs572861917
CA152211395
205 M>T No ClinGen
1000Genomes
ExAC
TOPMed
CA366512124
rs1386449320
205 M>V No gnomAD
ClinGen
rs748928620
CA4107375
206 L>R No ExAC
gnomAD
ClinGen
CA366512138
rs1294124080
207 C>S No ClinGen
gnomAD
TCGA novel 207 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4107378
rs779217116
210 K>R No ClinGen
ExAC
gnomAD
rs1292323407
CA366512175
212 C>S No gnomAD
ClinGen
TCGA novel 213 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA366512183
rs746893702
213 E>D No TOPMed
ClinGen
rs966044247
CA152211407
213 E>G No ClinGen
Ensembl
CA4107380
rs772655673
213 E>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 213 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA366512192
rs773547816
214 S>R No ExAC
TOPMed
gnomAD
ClinGen
rs1204150440
CA366512201
216 G>D No gnomAD
ClinGen
CA4107383
rs770854941
217 L>F No ClinGen
ExAC
gnomAD
CA366512213
rs1562520159
218 C>Y No ClinGen
Ensembl
rs1444104059
CA366512217
219 V>M No TOPMed
ClinGen
rs969354951
CA152211416
220 A>P No TOPMed
ClinGen
CA4107384
rs776967355
220 A>V No ExAC
gnomAD
ClinGen
rs764033288
CA4107386
221 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA366512236
rs1417461667
222 L>F No ClinGen
gnomAD
CA366512238
rs1583189230
222 L>P No Ensembl
ClinGen
rs919548669
CA152211424
224 L>F No Ensembl
ClinGen
rs761664889
CA4107388
224 L>P No ExAC
TOPMed
gnomAD
ClinGen
CA4107390
rs750271468
227 C>* No ClinGen
ExAC
gnomAD
rs767495322
CA4107389
227 C>Y No ExAC
gnomAD
ClinGen
CA366512267
rs1303393305
228 L>V No gnomAD
ClinGen
rs1393845095
CA366512288
231 N>S No gnomAD
ClinGen
rs765804153
CA4107392
232 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs142483267
CA4107394
233 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs548935605
CA4107396
234 I>T No ClinGen
1000Genomes
ExAC
gnomAD
rs530410283
CA4107395
234 I>V No 1000Genomes
ExAC
gnomAD
ClinGen
CA366512316
rs1157156199
235 P>L No TOPMed
ClinGen
TCGA novel 235 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758619444
CA4107397
237 G>R No ExAC
gnomAD
ClinGen
rs188414778
CA4107400
238 M>K No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA4107399
rs188414778
238 M>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4107398
rs778355009
238 M>V No ExAC
TOPMed
gnomAD
ClinGen
rs1208905621
CA366512336
239 F>I No gnomAD
ClinGen
rs1443848365
CA366512379
244 Y>C No TOPMed
gnomAD
ClinGen
TCGA novel 245 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1562520414
CA366512394
246 C>S No ClinGen
Ensembl
CA4107402
rs745897616
247 L>V No ExAC
gnomAD
ClinGen
rs371317200
CA152211451
248 S>L No ClinGen
ESP
TOPMed
gnomAD
rs775788104
CA4107404
249 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA4107405
rs761682469
250 Y>N No ExAC
gnomAD
ClinGen
rs1001092848
CA152211458
252 S>P No Ensembl
ClinGen
CA4107406
rs767205522
254 K>E No ClinGen
ExAC
gnomAD
CA152211461
rs1028135696
259 K>E No gnomAD
ClinGen
CA366512478
rs1028135696
259 K>Q No ClinGen
gnomAD
CA366512496
rs1328827160
261 G>D No ClinGen
TOPMed
rs1411083004
CA366512494
261 G>R No gnomAD
ClinGen
rs1305820908
CA366512504
262 N>S No ClinGen
gnomAD
CA4107407
rs773268991
263 I>F No ExAC
gnomAD
ClinGen
rs773268991
CA4107408
263 I>V No ClinGen
ExAC
gnomAD
CA366512513
rs1400531363
264 I>V No ClinGen
TOPMed
rs1391215615
CA366512531
266 A>V No ClinGen
gnomAD
CA366512532
rs1302406027
267 V>M No TOPMed
gnomAD
ClinGen
rs374219155
CA4107410
270 H>Y No ESP
ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 271 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1400364939
CA366512560
271 I>V No TOPMed
ClinGen
CA4107411
rs754445368
272 S>L Variant assessed as Somatic; 4.625e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA366512570
rs754445368
272 S>W No ExAC
TOPMed
gnomAD
ClinGen
CA4107413
rs752285887
273 K>E No ExAC
gnomAD
ClinGen
CA366512576
rs1480413905
273 K>N No gnomAD
ClinGen
CA4107416
rs199584738
276 Y>H No 1000Genomes
ExAC
ClinGen
CA4107417
rs757730186
279 Q>R No ExAC
gnomAD
ClinGen
TCGA novel 280 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781752046
CA4107418
280 G>V No ClinGen
ExAC
gnomAD
rs1431155909
CA366512634
282 K>* No ClinGen
gnomAD
TCGA novel 282 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 283 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA366512666
rs1477109164
286 E>V No TOPMed
ClinGen
rs1353627332
CA366512677
287 I>M No ClinGen
TOPMed
gnomAD
rs1294865212
CA366512690
289 P>L No ClinGen
gnomAD
rs775914459
CA4107421
290 L>R No ClinGen
ExAC
gnomAD
rs1273717725
CA366512699
291 G>A No ClinGen
TOPMed
gnomAD
CA366512698
rs1273717725
291 G>E No ClinGen
TOPMed
gnomAD
CA4107422
rs749468107
292 P>S No ClinGen
ExAC
gnomAD
CA366512713
rs1303344907
293 N>K No ClinGen
gnomAD
CA366512722
rs373476229
295 A>P No ClinGen
ESP
ExAC
gnomAD
rs373476229
CA4107423
295 A>T No ClinGen
ESP
ExAC
gnomAD
CA366512730
rs1307195806
296 L>H No gnomAD
ClinGen
rs1267411235
CA366512735
297 F>V No ClinGen
gnomAD
CA4107426
rs760468270
298 Y>H No ClinGen
ExAC
gnomAD
TCGA novel 298 Y>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776399101 298 Y>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs770885123
CA4107427
300 G>E No ExAC
gnomAD
ClinGen
rs776484465
CA4107428
301 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs1248609538
CA366512762
301 M>V No ClinGen
gnomAD
rs759057122
CA4107429
302 A>T No ClinGen
ExAC
gnomAD
CA366512802
rs1166512967
307 P>A No gnomAD
ClinGen
rs762494116
CA4107432
307 P>L No ClinGen
ExAC
gnomAD
CA4107434
rs534794098
308 G>R No 1000Genomes
ExAC
gnomAD
ClinGen
TCGA novel 310 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781768059
CA4107436
311 S>F No ExAC
gnomAD
ClinGen
rs1562520936
CA366512852
314 F>C No Ensembl
ClinGen
CA366512864
rs1228909921
316 Q>E No ClinGen
TOPMed
gnomAD
CA366512863
rs1228909921
316 Q>K No TOPMed
gnomAD
ClinGen
TCGA novel 316 Q>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756330192
CA4107438
317 K>R No ExAC
gnomAD
ClinGen
rs1183922933
CA366512883
COSM139693
318 P>L skin [Cosmic] No gnomAD
ClinGen
cosmic curated
rs368053635
CA4107439
319 K>* No ClinGen
ESP
ExAC
gnomAD
CA366512885
rs368053635
319 K>E No ClinGen
ESP
ExAC
gnomAD
CA4107440
rs200854692
320 G>D No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA4107441
rs768781969
322 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA366512903
rs1219186919
322 I>V No TOPMed
ClinGen
CA4107443
rs145364557
326 K>E No ClinGen
ESP
ExAC
gnomAD
rs1241408762
CA366512931
326 K>I No ClinGen
gnomAD
rs145364557
CA152211509
326 K>Q No ClinGen
ESP
ExAC
gnomAD
CA366512950
rs1483304643
329 I>V No gnomAD
ClinGen
CA366512957
rs1419591715
330 S>P No gnomAD
ClinGen
TCGA novel 330 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4107444
rs112432653
331 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 332 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 333 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs146980569
CA4107449
335 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ESP
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs1316867114
CA366512994
336 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No TOPMed
gnomAD
ClinGen
NCI-TCGA
rs1345089740
CA366513015
339 E>K No gnomAD
ClinGen
CA366513024
rs1448896034
340 E>Q No ClinGen
gnomAD
rs145034742
CA4107452
341 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA366513046
rs1232913829
343 M>T No ClinGen
gnomAD
rs879923703
CA152211528
345 S>* No Ensembl
ClinGen
rs879480276
CA152211526
345 S>T No Ensembl
ClinGen
rs1562521171
CA366513064
346 D>H No Ensembl
ClinGen
CA366513086
rs1186426449
349 S>P No TOPMed
ClinGen
CA366513113
rs1473365324
352 E>D No ClinGen
TOPMed
rs762327018
CA4107455
354 P>S No ExAC
gnomAD
ClinGen
CA152211535
rs572714192
355 M>T No ClinGen
1000Genomes
TOPMed
gnomAD
CA152211533
rs991861550
355 M>V No TOPMed
ClinGen
rs995191901
CA152211537
356 C>F No ClinGen
TOPMed
gnomAD
rs995191901
CA366513135
356 C>Y No ClinGen
TOPMed
gnomAD
rs575464802
CA4107460
357 T>I No ClinGen
1000Genomes
rs143163274
CA152211539
357 T>S No 1000Genomes
ESP
TOPMed
gnomAD
ClinGen
rs1211704887
CA366513147
358 G>D No TOPMed
gnomAD
ClinGen
CA366513151
rs1262781773
359 P>S No gnomAD
ClinGen
CA366513164
rs1485028197
361 S>A No ClinGen
TOPMed
gnomAD
rs1485028197
CA366513165
361 S>P No ClinGen
TOPMed
gnomAD
rs796600932
CA152211546
362 R>S No Ensembl
ClinGen
CA366513170
rs1285667480
362 R>W No TOPMed
ClinGen
CA4107464
rs141136134
363 R>* No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA366513175
rs141136134
363 R>G No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs753893816
CA4107465
363 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1157157765
CA366513183
364 E>V No ClinGen
gnomAD
rs755018700
CA4107466
365 V>I No ExAC
gnomAD
ClinGen
CA152211554
rs748384723
367 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs748384723
CA4107468
367 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA366513205
rs879071937
368 Y>C No ClinGen
TOPMed
gnomAD
CA152211556
rs879071937
368 Y>F No TOPMed
gnomAD
ClinGen
rs770776480
CA4107469
369 T>A No ExAC
TOPMed
gnomAD
ClinGen
CA152211558
rs770776480
369 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1278738648
CA366513215
370 D>G No ClinGen
gnomAD
VAR_043021
rs6917485
CA4107470
370 D>Y No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
UniProt
dbSNP
rs1400681571
CA366513221
371 S>A No ClinGen
TOPMed
gnomAD
rs745615960
CA4107472
371 S>C No ExAC
gnomAD
ClinGen
rs1400681571
CA366513220
371 S>P No ClinGen
TOPMed
gnomAD
rs1346547772
CA366513235
373 P>H No ClinGen
gnomAD
CA366513234
rs1278020358
373 P>S No TOPMed
gnomAD
ClinGen
rs1178841474
CA366513240
374 R>K No ClinGen
TOPMed
rs1372558911
CA366513247
375 Q>K No Ensembl
ClinGen
rs1276381844
CA366513249
375 Q>R No gnomAD
ClinGen
CA152211566
rs1050117721
378 P>A No Ensembl
ClinGen
rs1478522135
CA366513276
379 M>I No gnomAD
ClinGen
rs6905356
CA366513275
379 M>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
VAR_043022
rs6905356
CA4107476
379 M>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
UniProt
dbSNP
rs748761830
CA4107475
379 M>V No ExAC
gnomAD
ClinGen
CA4107477
rs773946185
380 C>R No ClinGen
ExAC
gnomAD
rs761529966
CA4107478
380 C>Y No ClinGen
ExAC
gnomAD
CA152211573
rs201235090
381 S>T No ClinGen
TOPMed
gnomAD
rs1328375968
CA366513294
382 D>G No ClinGen
TOPMed
gnomAD
rs1328375968
CA366513295
382 D>V No TOPMed
gnomAD
ClinGen
CA366513292
rs1408417799
382 D>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No gnomAD
ClinGen
NCI-TCGA
CA366513302
rs1442763337
383 P>H No gnomAD
ClinGen
rs773731431
CA366513299
383 P>S No ExAC
gnomAD
ClinGen
CA4107481
rs773731431
383 P>T No ClinGen
ExAC
gnomAD
CA4107482
rs761078322
384 E>A No ExAC
gnomAD
ClinGen
CA366513310
rs201677849
385 P>A No ExAC
TOPMed
gnomAD
ClinGen
CA4107484
rs201677849
385 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA4107483
rs201677849
385 P>T No ExAC
TOPMed
gnomAD
ClinGen
CA152211580
rs796794095
386 R>M No Ensembl
ClinGen
rs201916124
CA152211583
386 R>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
gnomAD
rs1336811165
CA366513319
387 Q>K No ClinGen
gnomAD
CA366513329
rs1290096020
388 E>* No gnomAD
ClinGen
CA4107486
rs755070954
388 E>G No ExAC
ClinGen
CA4107487
rs765353591
389 V>F No ExAC
gnomAD
ClinGen
CA366513334
rs765353591
389 V>I No ClinGen
ExAC
gnomAD
rs752954708
CA4107488
390 P>H No ClinGen
ExAC
rs1215918317
CA366513339
390 P>S No ClinGen
gnomAD
rs758595328
CA4107489
391 T>A No ClinGen
ExAC
gnomAD
rs149407187
CA4107490
391 T>M No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs555388194
CA4107492
392 C>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200873057
CA366513358
393 T>I No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA4107494
rs200873057
393 T>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA152211595
rs878927734
393 T>S No Ensembl
ClinGen
CA366513361
rs879242127
394 G>D No TOPMed
ClinGen
rs773893524
CA4107496
394 G>S No ClinGen
ExAC
gnomAD
CA152211601
rs879242127
394 G>V No TOPMed
ClinGen
rs747615412
CA4107498
395 P>R No ExAC
TOPMed
gnomAD
ClinGen
CA366513371
rs1435741660
396 E>A No ClinGen
gnomAD
rs1381296516
CA366513377
397 S>A No TOPMed
ClinGen
CA366513378
rs1381296516
397 S>P No TOPMed
ClinGen
rs1441081656
CA366513382
398 R>G No ClinGen
TOPMed
COSM1672981
CA152211605
rs1018715832
399 R>* haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
TOPMed
rs200974766
CA152211608
399 R>L No ClinGen
TOPMed
CA152211606
rs200974766
399 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No TOPMed
ClinGen
NCI-TCGA
rs544250317
CA4107501
401 V>L No 1000Genomes
ExAC
gnomAD
ClinGen
CA4107502
rs761131328
402 P>L No ClinGen
ExAC
gnomAD
CA4107504
rs148592361
CA4107505
403 M>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1488782909
CA366513409
403 M>L No ClinGen
TOPMed
rs766749170
CA4107503
403 M>T No ClinGen
ExAC
gnomAD
rs1336454813
CA366513418
404 C>Y No TOPMed
gnomAD
ClinGen
CA4107506
rs9348265
405 S>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs113032155
CA152211619
406 D>G No 1000Genomes
TOPMed
ClinGen
TCGA novel 406 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA152211621
rs879220713
407 P>A No ClinGen
TOPMed
gnomAD
rs1468274252
CA366513437
407 P>H No gnomAD
ClinGen
CA366513436
rs879220713
407 P>S No TOPMed
gnomAD
ClinGen
CA366513443
rs1209916976
408 E>G No ClinGen
gnomAD
CA366513441
rs1362472850
408 E>Q No ClinGen
gnomAD
rs1306429404
CA366513451
409 P>R No TOPMed
ClinGen
CA152211624
rs879137606
409 P>S No TOPMed
ClinGen
rs959562603
CA152211626
411 Q>E No Ensembl
ClinGen
CA4107509
rs758408197
411 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA366513472
rs1192518680
412 E>D No ClinGen
TOPMed
gnomAD
CA366513481
rs1476300652
414 P>A No gnomAD
ClinGen
CA152211630
rs917651355
414 P>R No ClinGen
Ensembl
rs945097938
CA152211631
415 M>T No ClinGen
gnomAD
CA366513485
rs1457537224
415 M>V No gnomAD
ClinGen
rs751768294
CA4107512
417 T>I No ExAC
ClinGen
CA152211633
rs879010699
418 G>V No Ensembl
ClinGen
rs200811562
CA366513519
420 E>A No ESP
ExAC
TOPMed
ClinGen
rs200811562
CA4107516
420 E>G No ClinGen
ESP
ExAC
TOPMed
rs755933946
CA4107514
420 E>K No ExAC
gnomAD
ClinGen
rs200811562
CA4107515
420 E>V No ESP
ExAC
TOPMed
ClinGen
CA4107517
rs17860761
421 A>P No ClinGen
1000Genomes
TOPMed
CA152211634
rs17860761
421 A>S No 1000Genomes
TOPMed
ClinGen
CA152211635
rs956620391
421 A>V No ClinGen
TOPMed
CA4107519
rs754967873
422 R>K No ClinGen
ExAC
CA4107521
rs371591706
423 Q>* No ClinGen
ESP
ExAC
gnomAD
rs771646897
CA152211637
423 Q>L No ExAC
TOPMed
gnomAD
ClinGen
rs771646897
CA4107522
423 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs771239203
CA4107525
424 E>G No ExAC
TOPMed
gnomAD
ClinGen
CA4107524
rs746654977
424 E>Q No ExAC
gnomAD
ClinGen
CA4107526
rs777030714
425 V>D No ExAC
TOPMed
gnomAD
ClinGen
CA366513542
rs1258327741
425 V>I No ClinGen
gnomAD
CA4107527
rs759769464
426 P>R No ExAC
ClinGen
CA4107531
TCGA novel
rs763079839
427 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
ExAC
gnomAD
CA4107530
rs775919338
427 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA4107529
rs528554780
427 M>V No 1000Genomes
ExAC
ClinGen
rs6900199
VAR_043023
CA4107533
428 Y>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
UniProt
dbSNP
rs6900202
VAR_043024
CA4107537
430 D>G No 1000Genomes
TOPMed
gnomAD
ClinGen
UniProt
dbSNP
rs878906382
CA152211643
430 D>Y No ClinGen
Ensembl
rs6905610
CA4107539
VAR_043025
431 S>P No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
UniProt
dbSNP
rs1412343410
CA366513583
432 E>Q No gnomAD
ClinGen
rs6934830
VAR_043026
CA4107540
433 P>A No ClinGen
UniProt
ExAC
TOPMed
dbSNP
gnomAD
CA366513590
rs6934830
433 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs6934830
CA152211647
433 P>T No ExAC
TOPMed
gnomAD
ClinGen
CA366513603
rs1281383020
435 Q>E No ClinGen
TOPMed
CA366513605
rs1223450618
435 Q>R No TOPMed
ClinGen
CA4107541
rs767589826
436 E>G No ExAC
gnomAD
ClinGen
CA152211653
rs879247087
438 P>H No Ensembl
ClinGen
rs878877080
CA152211651
438 P>T No Ensembl
ClinGen
rs1020841757
CA152211656
439 M>T No ClinGen
TOPMed
rs550707923
CA4107542
439 M>V No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
VAR_043027
CA4107543
rs9366138
440 Y>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
UniProt
dbSNP
CA366513634
rs1583191383
440 Y>H No Ensembl
ClinGen
rs61733630
CA4107545
442 D>G No 1000Genomes
ESP
TOPMed
ClinGen
rs779003939
CA366513655
443 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA366513653
rs879126817
443 S>P No ClinGen
gnomAD
CA152211662
rs879126817
443 S>T No gnomAD
ClinGen
rs779003939
CA4107548
443 S>Y No ClinGen
ExAC
TOPMed
gnomAD
rs758044614
CA4107550
444 E>* No ExAC
gnomAD
ClinGen
rs758044614
CA366513657
444 E>K No ExAC
gnomAD
ClinGen
CA152211668
rs879050529
445 P>T No Ensembl
ClinGen
rs1481079989
CA366513670
446 R>G No ClinGen
gnomAD
CA366513673
rs1178790269
446 R>K No ClinGen
gnomAD
rs1243662590
CA366513677
447 Q>E No ClinGen
gnomAD
CA4107552
rs777386470
447 Q>H No ExAC
gnomAD
ClinGen
CA366513680
rs1248168392
447 Q>R No ClinGen
gnomAD
rs1199533613
CA366513684
448 E>* No ClinGen
gnomAD
rs1290455313
CA366513694
449 V>D No ClinGen
gnomAD
CA366513693
rs1396762291
449 V>F No gnomAD
ClinGen
CA152211673
rs879095627
450 P>H No ClinGen
gnomAD
rs879095627
CA366513700
450 P>L No ClinGen
gnomAD
CA366513699
rs879095627
450 P>R No gnomAD
ClinGen
rs879167011
CA152211671
450 P>T No ClinGen
gnomAD
CA366513705
rs1436801750
451 M>T No ClinGen
gnomAD
CA366513702
rs1463209217
451 M>V No TOPMed
gnomAD
ClinGen
rs113811703
CA4107553
452 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 452 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs887776669
CA152211677
453 T>A No gnomAD
ClinGen
CA366513721
rs1304870543
453 T>I No gnomAD
ClinGen
CA366513720
rs1304870543
453 T>R No ClinGen
gnomAD
CA4107558
rs112210589
454 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA366513723
rs566709478
454 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No 1000Genomes
gnomAD
ClinGen
NCI-TCGA
rs112210589
CA4107559
454 G>D No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA152211681
rs566709478
454 G>S No ClinGen
1000Genomes
gnomAD
CA366513726
rs145232172
455 S>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs137909655
CA4107563
455 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4107561
rs145232172
455 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs879024678
CA152211691
COSM1496244
457 P>S kidney [Cosmic] No TOPMed
ClinGen
cosmic curated
rs879024678
CA152211690
457 P>T No ClinGen
TOPMed
rs774439599
CA4107566
458 R>G No ExAC
ClinGen
rs879062292
CA152211698
462 P>H No Ensembl
ClinGen
CA152211696
rs878946533
462 P>T No ClinGen
Ensembl
CA152211700
rs927546005
463 M>T No TOPMed
gnomAD
ClinGen
rs769990360
CA152211702
464 Y>C No TOPMed
gnomAD
ClinGen
rs767781719
CA4107568
465 T>I No ClinGen
ExAC
gnomAD
COSM1076218
CA4107569
rs750550977
466 G>D endometrium [Cosmic] No ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
CA4107570
rs142356306
467 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA152211706
rs142356306
467 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA152211709
rs143059540
469 S>A No 1000Genomes
ESP
ExAC
TOPMed
ClinGen
rs752721893
CA4107572
469 S>F No ClinGen
ExAC
gnomAD
COSM1294202
rs143059540
CA4107571
469 S>P cervix kidney [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
rs1326991147
CA366513840
473 V>G No ClinGen
gnomAD
CA152211711
rs977804295
473 V>I No ClinGen
TOPMed
gnomAD
rs758386514
CA4107573
474 P>L No ExAC
ClinGen
rs1397395380
CA366513843
474 P>S No ClinGen
gnomAD
rs865952536
CA152211712
COSM483709
475 M>I kidney [Cosmic] No Ensembl
ClinGen
cosmic curated
CA366513849
rs1325744094
475 M>T No ClinGen
gnomAD
CA4107574
rs777802859
475 M>V No ExAC
TOPMed
gnomAD
ClinGen
rs1583191863
CA366513857
476 Y>C No Ensembl
ClinGen
rs751110073
CA4107575
477 T>A No ExAC
ClinGen
rs1400376362
CA366513874
479 P>S No ClinGen
TOPMed
rs992752804
CA152211713
480 E>K No TOPMed
ClinGen
rs1460342411
CA366513886
481 S>P No TOPMed
ClinGen
rs780956869
CA4107578
482 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs756511513
CA4107579
COSM1471899
483 Q>* prostate [Cosmic] No ExAC
gnomAD
ClinGen
cosmic curated
TCGA novel 485 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1307109518
CA366513921
486 L>S No gnomAD
ClinGen
CA366513926
rs1274823167
487 I>V No gnomAD
ClinGen
rs749609802
CA4107581
COSM292217
488 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ExAC
gnomAD
ClinGen
cosmic curated
NCI-TCGA
rs148225025
CA4107580
488 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1486589503
CA366513936
489 T>A No gnomAD
ClinGen
rs769185858
CA4107582
489 T>I No ExAC
TOPMed
gnomAD
ClinGen
rs1475323512
CA366513947
490 D>E No gnomAD
ClinGen
CA4107583
rs774656702
491 P>L No ClinGen
ExAC
gnomAD
rs1420481602
CA366513979
495 Q>P No ClinGen
TOPMed
gnomAD
CA366513986
rs1460166426
496 E>G No ClinGen
gnomAD
rs748270334
CA4107584
498 M>V No ClinGen
ExAC
gnomAD
CA366514008
rs1450423960
499 C>F No ClinGen
TOPMed
gnomAD
rs1314321551
CA366514014
500 T>A No gnomAD
ClinGen
rs772028200
CA4107585
501 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA366514028
rs141508700
502 H>L No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA4107586
rs141508700
502 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA366514044
rs1583192069
504 S>F No ClinGen
Ensembl
rs1415628710
CA366514055
506 Q>* No gnomAD
ClinGen
CA4107587
rs760772927
506 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1332457997
CA366514060
507 E>K No gnomAD
ClinGen
rs765172157
CA4107588
508 V>A No ExAC
gnomAD
ClinGen
rs1232423448
CA366514069
508 V>F No TOPMed
gnomAD
ClinGen
rs376805450
CA4107589
509 P>H No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs376805450
CA366514077
509 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4107591
rs764129722
510 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1485679029
CA366514081
510 I>T No gnomAD
ClinGen
CA4107590
rs762794911
510 I>V No ClinGen
ExAC
gnomAD
CA366514088
rs1389627685
511 C>* No TOPMed
ClinGen
VAR_043028
CA4107592
rs9348266
511 C>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
UniProt
dbSNP
CA366514084
rs9348266
511 C>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 511 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756860858
CA4107593
512 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
CA366514095
rs766907261
513 D>H No ExAC
gnomAD
ClinGen
CA4107594
rs766907261
513 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 513 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1395632198
CA366514107
514 P>L No ClinGen
TOPMed
rs1402962770
CA366514109
515 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No TOPMed
gnomAD
ClinGen
NCI-TCGA
CA366514126
rs1426367213
517 K>R No ClinGen
TOPMed
rs1157488039
CA366514133
518 Q>R No gnomAD
ClinGen
rs369824094
CA4107596
519 E>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 520 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1435378147
CA366514144
520 D>N No ClinGen
gnomAD
rs575888469
CA152211733
521 S>C No ClinGen
1000Genomes
CA4107598
rs749660995
522 M>T No ExAC
TOPMed
gnomAD
ClinGen
CA4107599
rs755274898
523 C>* No ClinGen
ExAC
TOPMed
gnomAD
rs929828004
CA152211736
523 C>F No ClinGen
Ensembl
CA4107601
rs375456997
525 H>Q No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1375170356
CA366514184
526 A>T No ClinGen
TOPMed
gnomAD
rs772230699
CA4107602
528 I>N No ClinGen
ExAC
gnomAD
CA366514208
rs1562523629
529 N>S No Ensembl
ClinGen
rs773142595
CA4107603
530 Q>K No ExAC
TOPMed
gnomAD
ClinGen
rs747036956
CA4107604
533 P>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
rs747036956
CA366514238
533 P>L No ExAC
gnomAD
ClinGen
rs747036956
CA366514237
533 P>R No ExAC
gnomAD
ClinGen
CA4107606
rs201884009
534 V>I No ExAC
TOPMed
gnomAD
ClinGen
rs868137718
CA152211746
540 F>S No Ensembl
ClinGen
rs1233834657
CA366514293
541 K>N No ClinGen
gnomAD
CA4107607
rs762901415
542 L>V No ClinGen
ExAC
gnomAD
rs530250537
CA152211751
544 A>D No ClinGen
TOPMed
gnomAD
rs530250537
CA366514311
544 A>V No ClinGen
TOPMed
gnomAD
CA366514313
rs1454803383
545 L>V No ClinGen
TOPMed
gnomAD
TCGA novel 546 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4107609
rs774386914
546 M>L No ExAC
gnomAD
ClinGen
rs761635587
CA4107610
547 C>R No ExAC
TOPMed
gnomAD
ClinGen
rs767444205
CA4107611
548 T>A No ClinGen
ExAC
gnomAD
TCGA novel 549 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1324189793
CA366514352
551 E>K No TOPMed
ClinGen
CA152211755
rs889003370
552 I>V No ClinGen
TOPMed
CA152211757
rs376221029
553 K>* No Ensembl
ClinGen
CA4107614
rs369270723
556 D>G No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA152211760
rs1006206812
558 T>I No ClinGen
Ensembl
CA366514412
rs1420577644
559 N>I No ClinGen
TOPMed
rs546217680
CA4107615
560 V>G No 1000Genomes
ExAC
gnomAD
ClinGen
rs1371608128
CA366514415
560 V>M No TOPMed
gnomAD
ClinGen
CA4107616
rs753472167
561 G>E No ClinGen
ExAC
gnomAD
rs144143595
CA4107617
562 P>H No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA152211766
rs895164979
563 E>K No ClinGen
TOPMed
gnomAD
CA152211768
rs200051487
565 K>E No ClinGen
1000Genomes
CA4107619
rs528688533
566 Q>H No ClinGen
1000Genomes
ExAC
gnomAD
CA4107618
rs779111167
566 Q>P No ExAC
TOPMed
gnomAD
ClinGen
CA366514467
rs1372563077
568 V>E No gnomAD
ClinGen
CA366514479
rs1462747484
570 M>K No ClinGen
gnomAD
rs758850414
CA4107620
573 D>A No ClinGen
ExAC
gnomAD
rs1195977237
CA366514505
574 T>A No TOPMed
gnomAD
ClinGen
TCGA novel 575 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA152211773
rs747554498
576 I>T No TOPMed
gnomAD
ClinGen
rs773198525
CA4107647
579 V>A No ClinGen
ExAC
gnomAD
rs140670595
CA4107646
579 V>F No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA366514560
rs1302120038
580 A>V No TOPMed
ClinGen
rs1293476080
CA366514561
581 R>G No ClinGen
TOPMed
gnomAD
CA366514571
rs1264080249
582 T>K No ClinGen
gnomAD
CA366514575
rs1235489214
583 H>Y No gnomAD
ClinGen
CA4107649
rs552822243
585 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs1172951619
CA366514601
586 Q>H No Ensembl
ClinGen
rs370272691
CA4107650
587 A>T No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA366514608
rs1387535473
588 E>K No TOPMed
ClinGen
rs1159970254
CA366514622
589 S>R No ClinGen
TOPMed
CA366514651
rs1362836813
594 N>D No TOPMed
ClinGen
rs568281525
CA366514655
594 N>I No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs568281525
CA366514654
594 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs568281525
CA4107652
594 N>T No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs1258454745
CA366514666
596 M>L No TOPMed
gnomAD
ClinGen
rs1258454745
CA366514667
596 M>V No ClinGen
TOPMed
gnomAD
TCGA novel 597 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752334604
CA4107653
597 S>N No ClinGen
ExAC
gnomAD
rs1185515660
CA366514685
598 S>T No gnomAD
ClinGen
CA366514702
rs1454252382
600 E>D No gnomAD
ClinGen
CA152212750
rs955933330
601 I>N No ClinGen
TOPMed
CA366514706
rs955933330
601 I>T No ClinGen
TOPMed
rs200658999
CA4107655
604 S>G No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs989788547
CA152212754
605 N>S No TOPMed
ClinGen
rs1002023776
CA152212760
606 T>N No TOPMed
ClinGen
rs1313152160
CA366514773
611 L>I No ClinGen
gnomAD
rs1356948660
CA366514780
612 D>H No gnomAD
ClinGen
rs144717218
CA4107658
614 A>T No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs756163123
CA4107660
616 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA4107661
rs780201901
617 S>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA366514817
rs1262978748
617 S>R No ClinGen
gnomAD
CA366514815
rs780201901
617 S>T No ExAC
TOPMed
gnomAD
ClinGen
CA152212777
rs960130443
618 Q>* No ClinGen
Ensembl
CA4107662
rs749518462
618 Q>H No ClinGen
ExAC
gnomAD
rs1316738455
CA366514830
619 A>V No TOPMed
ClinGen
CA4107663
rs758165465
623 R>C No ExAC
TOPMed
gnomAD
ClinGen
CA4107664
rs775947746
623 R>H No ExAC
TOPMed
gnomAD
ClinGen
CA152212789
rs775947746
623 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA366514854
rs758165465
623 R>S No ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 624 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763088271
CA152212792
624 P>S No ClinGen
Ensembl
CA4107665
rs746753927
626 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs746753927
CA366514869
626 R>G No ClinGen
ExAC
TOPMed
gnomAD
COSM1442357
CA4107666
rs770885051
626 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
NCI-TCGA
rs1255232111
CA366514874
627 Q>* No gnomAD
ClinGen
rs1255232111
CA366514873
627 Q>E No gnomAD
ClinGen
CA4107668
rs370992831
628 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769333308
CA4107669
629 V>I No ExAC
ClinGen
COSM1442358
rs1438590515
CA366514938
637 C>R Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No gnomAD
ClinGen
cosmic curated
NCI-TCGA
rs926214889
CA152212813
637 C>S No ClinGen
Ensembl
CA4107691
rs762331096
640 V>I No ExAC
gnomAD
ClinGen
rs1254786384
CA366514978
641 T>A No TOPMed
gnomAD
ClinGen
rs1487249900
CA366514981
641 T>S No gnomAD
ClinGen
CA366514992
rs1284402437
643 T>A No ClinGen
gnomAD
rs1190111947
CA366514995
643 T>I No TOPMed
gnomAD
ClinGen
rs1190111947
CA366514996
643 T>N No TOPMed
gnomAD
ClinGen
rs1190111947
CA366514994
643 T>S No ClinGen
TOPMed
gnomAD
CA366515000
rs1469891366
644 C>Y No ClinGen
Ensembl
CA4107693
rs773629402
645 L>P No ClinGen
ExAC
gnomAD
rs112530284
CA4107692
645 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 647 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766744846
CA4107695
648 K>M No ExAC
TOPMed
gnomAD
ClinGen
rs766744846
CA4107696
648 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA366515028
rs1340869314
649 E>* No ClinGen
TOPMed
rs1166337509
CA366515041
650 W>C No gnomAD
ClinGen
CA4107697
rs759543979
650 W>R No ClinGen
ExAC
gnomAD
rs1397296916
CA366515050
652 V>M No ClinGen
gnomAD
rs1430009760
CA366515066
654 P>S No ClinGen
TOPMed
rs1430009760
CA366515064
654 P>T No TOPMed
ClinGen
rs1412737027
CA366515083
656 N>K No ClinGen
TOPMed
rs1293010215
CA366515089
657 P>L No ClinGen
gnomAD
CA366515090
rs1362667545
658 L>M No ClinGen
gnomAD
rs757109952
CA4107700
661 P>L No ClinGen
ExAC
gnomAD
CA366515114
rs757109952
661 P>R No ExAC
gnomAD
ClinGen
rs1275042460
CA366515124
663 L>F No ClinGen
gnomAD
rs140403171
CA4107704
664 V>I Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] No ESP
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA366515136
rs1260817009
665 R>K No ClinGen
gnomAD
rs748846713
CA4107705
666 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA366515160
rs1186362465
669 M>V No ClinGen
TOPMed
rs1485555570
CA366515168
670 T>P No TOPMed
ClinGen
rs778778913
CA4107707
671 I>V No ClinGen
ExAC
gnomAD
CA366515507
rs1420949541
674 G>* No TOPMed
ClinGen
CA366515514
rs144125831
675 T>K No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA4107729
rs144125831
675 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4107732
rs771184123
677 S>N No ClinGen
ExAC
gnomAD
CA4107733
rs777261708
679 K>R No ClinGen
ExAC
gnomAD
CA366515549
rs1238070786
680 I>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA366515575
rs1175276624
684 N>S No gnomAD
ClinGen
CA366515579
rs1245269079
685 Q>* No ClinGen
gnomAD
rs953928829
CA152195957
688 E>K No TOPMed
ClinGen
CA366515621
rs1195962191
690 Q>H No ClinGen
TOPMed
rs760003891
CA366515629
692 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA4107736
rs770237207
692 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4107735
rs760003891
692 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1463827119
CA366515634
693 R>C No TOPMed
gnomAD
ClinGen
rs1463827119
CA366515633
693 R>G No ClinGen
TOPMed
gnomAD
COSM1672983
rs775578020
CA4107737
693 R>H haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA4107738
rs762955354
696 T>A No ClinGen
ExAC
gnomAD
rs570416580
CA152195974
699 A>S No ClinGen
1000Genomes
ExAC
gnomAD
CA4107740
rs570416580
699 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA366515675
rs1337734851
700 C>Y No ClinGen
TOPMed
rs200160128
CA152195979
701 F>C No ClinGen
Ensembl
CA366515691
rs777137854
702 N>I No ExAC
TOPMed
gnomAD
ClinGen
rs777137854
CA4107742
702 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1583241369
CA366515704
704 S>C No Ensembl
ClinGen
rs950705248
CA152195985
705 S>P No TOPMed
gnomAD
ClinGen
CA366515743
rs1336099042
710 L>P No ClinGen
gnomAD
rs186092344
CA4107745
711 Q>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA152195991
rs909013281
713 V>F No ClinGen
TOPMed
CA4107747
rs201594993
714 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4107748
rs777538703
715 S>G No ClinGen
ExAC
gnomAD
rs974102458
CA152196003
716 P>S No TOPMed
ClinGen
CA152196005
rs916009509
717 F>S No TOPMed
ClinGen
rs781512945
CA4107751
720 L>F No ExAC
TOPMed
gnomAD
ClinGen
CA366515859
rs1192646973
720 L>S No ClinGen
gnomAD
CA4107753
rs770290206
721 C>Y No ExAC
gnomAD
ClinGen
rs774676677
CA4107757
729 V>A No ExAC
TOPMed
gnomAD
ClinGen
CA4107756
rs768616758
729 V>I No ExAC
gnomAD
ClinGen
rs1250585886
CA366516692
731 V>A No TOPMed
gnomAD
ClinGen
rs1250585886
CA366516691
731 V>E No TOPMed
gnomAD
ClinGen
rs894096296
CA152199212
731 V>M No Ensembl
ClinGen
rs772424390
CA4107777
733 T>M No ExAC
TOPMed
gnomAD
ClinGen
rs1377970060
CA366516702
733 T>P No ClinGen
gnomAD
rs769706962
CA4107780
738 D>E No ClinGen
ExAC
gnomAD
TCGA novel 738 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4107781
rs775606266
741 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
rs751035379
CA4107784
742 F>C No ClinGen
ExAC
TOPMed
gnomAD
rs751035379
CA366516764
742 F>S No ClinGen
ExAC
TOPMed
gnomAD
CA4107788
rs750073931
744 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs767216457
CA4107786
744 A>S No ClinGen
ExAC
gnomAD
CA4107787
COSM170085
rs750073931
744 A>V Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
NCI-TCGA
CA366516804
rs1314161259
748 C>Y No ClinGen
gnomAD
rs1231255499
CA366516817
750 Q>R No TOPMed
gnomAD
ClinGen
TCGA novel 753 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4107790
rs754186276
755 S>L No ClinGen
ExAC
gnomAD
CA366516856
rs1456966358
756 Q>R No ClinGen
gnomAD
rs1269100791
CA366516863
757 L>H No gnomAD
ClinGen
CA366516861
rs1562563709
757 L>V No ClinGen
Ensembl
rs747637344
CA4107809
763 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1019376154
CA152208164
766 N>K No ClinGen
TOPMed
TCGA novel 768 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777976536
CA4107812
769 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1401681281
CA366519780
770 V>M No ClinGen
TOPMed
gnomAD
rs1276072386
CA366519808
774 S>F No gnomAD
ClinGen
rs1228851968
CA366519821
776 L>P No ClinGen
gnomAD
rs375022412
CA4107815
777 V>I No ClinGen
ESP
ExAC
gnomAD
rs928669857
CA152208175
778 R>C No ClinGen
gnomAD
CA4107816
rs369165364
778 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 779 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA366519838
rs1213936021
780 L>I No gnomAD
ClinGen
CA366519852
rs1371623927
782 T>A No ClinGen
TOPMed
CA4107821
rs771591142
784 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA4107820
rs771591142
784 V>I No ExAC
TOPMed
gnomAD
ClinGen
CA4107823
rs765956870
786 V>I No ExAC
gnomAD
ClinGen
TCGA novel 786 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1163862477
CA366519895
789 A>S No TOPMed
ClinGen
CA4107827
rs765604536
790 C>R No ExAC
gnomAD
ClinGen
CA366519908
rs1421767244
791 G>C No gnomAD
ClinGen
CA366519909
rs1415866605
791 G>D No ClinGen
TOPMed
CA366519923
rs1344433035
793 P>H No gnomAD
ClinGen
CA4107830
rs561555223
794 W>* No ClinGen
1000Genomes
ExAC
gnomAD
CA366519931
rs1376880502
794 W>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No gnomAD
ClinGen
NCI-TCGA
rs373132046
CA4107831
796 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4107832
rs148860500
796 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA366519973
rs1284826206
800 M>V No ClinGen
TOPMed
gnomAD
rs1316744645
CA366519985
801 P>L No ClinGen
gnomAD
CA4107834
rs758322618
802 W>* No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA4107835
rs746074131
803 N>S No ClinGen
ExAC
gnomAD
CA366520003
rs1238888591
804 V>I No gnomAD
ClinGen
rs778794545
CA4107837
807 G>R No ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 813 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA152208207
rs918030400
814 Y>H No TOPMed
ClinGen
rs747902004
CA4107838
814 Y>S No ExAC
gnomAD
ClinGen
rs199935608
CA152208211
816 Q>H No ClinGen
gnomAD
rs949492511
CA152208213
819 K>N No ClinGen
TOPMed
COSM1076223
rs1451857457
CA366520166
819 K>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs773071927
CA4107840
820 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs773071927
CA4107841
820 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs776184514
CA366520200
821 Y>* No ClinGen
ExAC
TOPMed
gnomAD
rs770467106
CA4107842
821 Y>C No ClinGen
ExAC
gnomAD
rs770467106
CA366520198
821 Y>F No ClinGen
ExAC
gnomAD
CA4107844
rs759203305
824 E>K No ExAC
gnomAD
ClinGen
rs79136306
CA152208225
827 L>F No ClinGen
Ensembl
rs972999325
CA152208222
827 L>V No TOPMed
ClinGen
rs918411369
CA152208227
828 E>D No ClinGen
TOPMed
CA4107845
rs764747117
829 Q>E No ExAC
gnomAD
ClinGen
CA366520293
rs1407147568
829 Q>R No ClinGen
TOPMed
rs1272410630
CA366520889
831 R>I No TOPMed
gnomAD
ClinGen
CA366520888
rs1272410630
831 R>T No ClinGen
TOPMed
gnomAD
rs775268728
CA366520902
833 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs775268728
CA4107865
833 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs61733633
CA4107864
833 R>W No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1480019253
CA366520908
834 L>P No ClinGen
gnomAD
CA152208836
rs961249844
836 K>N No ClinGen
TOPMed
gnomAD
CA366520919
rs1425414863
836 K>R No gnomAD
ClinGen
CA366520943
rs1167208471
839 N>I No gnomAD
ClinGen
rs1198293582
CA366520958
841 K>N No TOPMed
ClinGen
rs762407428
CA4107869
843 V>A No ClinGen
ExAC
gnomAD
rs1430143454
CA366520992
847 A>T No ClinGen
TOPMed
gnomAD
rs750525423
CA4107871
847 A>V No ExAC
gnomAD
ClinGen
rs1400160878
CA366520998
COSM1076224
848 C>R Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA366521000
rs1279249298
848 C>Y No ClinGen
gnomAD
rs1319785913
CA366521011
849 M>I No ClinGen
TOPMed
rs1562594841
CA366521006
849 M>V No Ensembl
ClinGen
TCGA novel 852 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs138440511
CA4107872
854 R>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA4107873
rs371061294
854 R>H No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs754051167
CA4107874
856 T>S No ClinGen
ExAC
gnomAD
CA4107875
rs758226124
857 G>S No ExAC
gnomAD
ClinGen
rs777519285
CA4107876
858 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA366521067
rs544872777
858 R>P No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA4107877
COSM208008
rs544872777
COSM3697686
858 R>Q large_intestine [Cosmic] No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
CA4107878
rs144000520
859 A>T No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA4107879
rs375566277
859 A>V No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1487162205
CA366521076
860 H>P No ClinGen
gnomAD
CA4107880
rs745396828
862 G>S No ExAC
gnomAD
ClinGen
rs138299837
CA4107882
864 H>Y No ClinGen
1000Genomes
ExAC
gnomAD
COSM1442359
rs900275467
CA152208861
866 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA152209767
rs988042260
868 R>T No TOPMed
gnomAD
ClinGen
rs1174965072
CA366521392
869 W>R No ClinGen
gnomAD
CA4107907
rs773813812
871 R>K No ExAC
TOPMed
gnomAD
ClinGen
rs1394364591
CA366521424
873 G>D No ClinGen
gnomAD
rs1302212915
CA366521437
875 S>T No gnomAD
ClinGen
CA152209769
rs865964139
876 Y>C No ClinGen
TOPMed
gnomAD
rs139370923
CA4107910
878 R>G No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA4107911
rs776724376
878 R>K No ClinGen
ExAC
gnomAD
COSM1076225
CA4107912
rs533869374
879 T>M endometrium [Cosmic] No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
rs899645186
CA152209771
880 G>A No TOPMed
gnomAD
ClinGen
rs1416198632
CA366521472
881 S>P No TOPMed
ClinGen
CA366521478
rs1400198721
882 G>R No ClinGen
TOPMed
CA4107915
rs761708667
883 Y>C No ExAC
gnomAD
ClinGen
rs374961243
CA152209772
884 S>R No ClinGen
ESP
TOPMed
gnomAD
CA366521499
rs1197721716
885 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs767193467
CA4107916
885 R>H No ExAC
TOPMed
gnomAD
ClinGen
rs555515873
CA4107918
886 S>F No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs1173408330
CA366521503
886 S>P No gnomAD
ClinGen
CA366521508
rs766350212
887 S>C No ClinGen
ExAC
gnomAD
CA4107919
rs766350212
887 S>G No ClinGen
ExAC
gnomAD
CA152209773
rs911879600
887 S>N No ClinGen
Ensembl
CA4107920
rs753408403
888 Q>R No ClinGen
ExAC
gnomAD
rs1393144447
CA366521533
889 G>E No gnomAD
ClinGen
CA4107921
rs754518655
891 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA366521559
rs754518655
891 P>Q No ExAC
TOPMed
gnomAD
ClinGen
CA366521557
rs1474366782
891 P>S No ClinGen
TOPMed
rs747728963
CA4107923
892 W>* No ClinGen
ExAC
gnomAD
rs1293312767
CA366521571
893 R>K No gnomAD
ClinGen
rs1306464253
CA366521583
894 D>E No ClinGen
gnomAD
rs1244864423
CA366521593
896 G>R No TOPMed
gnomAD
ClinGen
rs757606440
CA4107947
899 S>N No ExAC
gnomAD
ClinGen
rs1265336749
CA366523476
900 R>* No TOPMed
ClinGen
rs1221898902
CA366523503
901 Q>R No TOPMed
ClinGen
CA152211638
rs919903616
902 Y>C No Ensembl
ClinGen
rs746351508
CA4107949
903 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA366523601
rs1238260653
904 H>R No TOPMed
ClinGen
CA4107950
rs770286825
906 Q>H No ClinGen
ExAC
gnomAD
CA366523692
rs1380003688
908 R>I No ClinGen
gnomAD
CA366523687
rs1380003688
908 R>K No gnomAD
ClinGen
CA366523690
rs1380003688
908 R>T No ClinGen
gnomAD
CA4107951
rs780028122
909 R>M No ClinGen
ExAC
gnomAD
CA4107952
rs749321259
CA152211640
909 R>S No ExAC
TOPMed
gnomAD
ClinGen
CA366523730
rs1378665780
910 Y>H No ClinGen
gnomAD

No associated diseases with Q96EK7

No regional properties for Q96EK7

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q96EK7

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

1 GO annotations of cellular component

Name Definition
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.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

2 GO annotations of biological process

Name Definition
fat cell differentiation The process in which a relatively unspecialized cell acquires specialized features of an adipocyte, an animal connective tissue cell specialized for the synthesis and storage of fat.
peroxisome proliferator activated receptor signaling pathway The series of molecular signals initiated by binding of a ligand to any of the peroxisome proliferator activated receptors (alpha, beta or gamma) in the nuclear membrane, and ending with the initiation or termination of the transcription of target genes.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q6RI63 Fam120b Constitutive coactivator of peroxisome proliferator-activated receptor gamma Mus musculus (Mouse) PR
10 20 30 40 50 60
MGVRGLQGFV GSTCPHICTV VNFKELAEHH RSKYPGCTPT IVVDAMCCLR YWYTPESWIC
70 80 90 100 110 120
GGQWREYFSA LRDFVKTFTA AGIKLIFFFD GMVEQDKRDE WVKRRLKNNR EISRIFHYIK
130 140 150 160 170 180
SHKEQPGRNM FFIPSGLAVF TRFALKTLGQ ETLCSLQEAD YEVASYGLQH NCLGILGEDT
190 200 210 220 230 240
DYLIYDTCPY FSISELCLES LDTVMLCREK LCESLGLCVA DLPLLACLLG NDIIPEGMFE
250 260 270 280 290 300
SFRYKCLSSY TSVKENFDKK GNIILAVSDH ISKVLYLYQG EKKLEEILPL GPNKALFYKG
310 320 330 340 350 360
MASYLLPGQK SPWFFQKPKG VITLDKQVIS TSSDAESREE VPMCSDAESR QEVPMCTGPE
370 380 390 400 410 420
SRREVPVYTD SEPRQEVPMC SDPEPRQEVP TCTGPESRRE VPMCSDPEPR QEVPMCTGPE
430 440 450 460 470 480
ARQEVPMYTD SEPRQEVPMY TDSEPRQEVP MYTGSEPRQE VPMYTGPESR QEVPMYTGPE
490 500 510 520 530 540
SRQEVLIRTD PESRQEIMCT GHESKQEVPI CTDPISKQED SMCTHAEINQ KLPVATDFEF
550 560 570 580 590 600
KLEALMCTNP EIKQEDPTNV GPEVKQQVTM VSDTEILKVA RTHHVQAESY LVYNIMSSGE
610 620 630 640 650 660
IECSNTLEDE LDQALPSQAF IYRPIRQRVY SLLLEDCQDV TSTCLAVKEW FVYPGNPLRH
670 680 690 700 710 720
PDLVRPLQMT IPGGTPSLKI LWLNQEPEIQ VRRLDTLLAC FNLSSSREEL QAVESPFQAL
730 740 750 760 770 780
CCLLIYLFVQ VDTLCLEDLH AFIAQALCLQ GKSTSQLVNL QPDYINPRAV QLGSLLVRGL
790 800 810 820 830 840
TTLVLVNSAC GFPWKTSDFM PWNVFDGKLF HQKYLQSEKG YAVEVLLEQN RSRLTKFHNL
850 860 870 880 890 900
KAVVCKACMK ENRRITGRAH WGSHHAGRWG RQGSSYHRTG SGYSRSSQGQ PWRDQGPGSR
QYEHDQWRRY