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

31 structures for Q86U86

Entry ID Method Resolution Chain Position Source
2KTB NMR - B 174-293 PDB
3G0J X-ray 178 A A/B 645-766 PDB
3HMF X-ray 163 A A 178-291 PDB
3IU5 X-ray 163 A A 43-154 PDB
3IU6 X-ray 179 A A 773-914 PDB
3K2J X-ray 220 A A/B 388-494 PDB
3LJW X-ray 150 A A/B 174-293 PDB
3MB4 X-ray 166 A A/B 645-766 PDB
3TLP X-ray 213 A A/B 496-637 PDB
4Q0N X-ray 178 A A/B/C/D/E/F/G/H 645-766 PDB
4Q0O X-ray 183 A A 645-766 PDB
4Y03 X-ray 194 A A/B 645-766 PDB
5E7D X-ray 187 A A/B/C/D 645-766 PDB
5FH6 X-ray 230 A A/B/C/D 645-766 PDB
5FH7 X-ray 147 A A/B 645-766 PDB
5FH8 X-ray 155 A A/B/C/D 645-766 PDB
5HRV X-ray 170 A A 645-766 PDB
5HRW X-ray 180 A A/B 645-766 PDB
5HRX X-ray 173 A A/B 645-766 PDB
5II1 X-ray 202 A A/B 645-766 PDB
5II2 X-ray 210 A A/B 645-766 PDB
5IID X-ray 240 A A/B 645-766 PDB
6OXB X-ray 186 A A/B/C/D/E/F 934-1105 PDB
6ZN6 X-ray 202 A A/B 178-291 PDB
6ZNV X-ray 114 A A 178-291 PDB
6ZS3 X-ray 167 A A/B 645-766 PDB
6ZS4 X-ray 200 A A 645-766 PDB
7VDV EM 340 A a 631-1689 PDB
7Y8R EM 440 A U 1-1689 PDB
8FTA X-ray 178 A A 178-291 PDB
AF-Q86U86-F1 Predicted AlphaFoldDB

1098 variants for Q86U86

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV000203297
rs864321679
1333 D>missing Clear cell carcinoma of kidney [ClinVar] Yes ClinVar
dbSNP
CA353125288
rs1289736713
5 R>K No ClinGen
TOPMed
gnomAD
TCGA novel 6 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 7 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1169692229
CA353125154
8 A>T No ClinGen
TOPMed
rs757435999
CA2444923
14 S>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 15 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764436452
CA2444921
17 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA353124706
rs1430148210
18 D>G No ClinGen
gnomAD
CA353124651
rs1419786453
21 D>V No ClinGen
gnomAD
CA2444920
rs762937964
22 G>E No ClinGen
ExAC
gnomAD
CA2444919
rs775590005
24 H>R No ClinGen
ExAC
gnomAD
CA353124547
rs1462165446
26 V>L No ClinGen
TOPMed
gnomAD
rs776368520
CA2444916
27 S>L No ClinGen
ExAC
rs1162990450
CA353124459
29 P>L No ClinGen
Ensembl
rs1296667861
CA353124464
29 P>S No ClinGen
TOPMed
rs1362922218
CA353124394
32 S>I No ClinGen
TOPMed
CA353124387
COSM191333
rs1309671151
32 S>R large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1296531217
CA353124383
33 R>G No ClinGen
TOPMed
gnomAD
rs1353693878
CA353124243
36 R>K No ClinGen
TOPMed
gnomAD
TCGA novel 38 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs529388126
CA2444913
40 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1317265743
CA353124129
41 L>I No ClinGen
TOPMed
gnomAD
rs1453215498
CA353124110
41 L>R No ClinGen
gnomAD
CA353124096
rs1219845160
42 P>S No ClinGen
gnomAD
rs771820105
CA2444912
43 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1578377767
CA353124056
44 V>A No ClinGen
Ensembl
TCGA novel 44 V>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747627905
CA2444911
44 V>I No ClinGen
ExAC
gnomAD
rs1247840974
CA353123982
46 P>L No ClinGen
TOPMed
CA74775522
rs866121544
48 A>V No ClinGen
gnomAD
VAR_064653 49 V>L found in a lung cancer cell line [UniProt] No UniProt
rs542945393
CA2444890
49 V>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 50 C>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748868709
CA2444889
50 C>S No ClinGen
ExAC
gnomAD
CA353123055
rs934149529
52 E>D No ClinGen
TOPMed
gnomAD
CA353123045
rs1223568786
53 L>I No ClinGen
gnomAD
CA353123034
rs1353015727
53 L>R No ClinGen
gnomAD
CA74775515
VAR_064654
rs923060956
56 T>A found in a brain cancer cell line [UniProt] No ClinGen
UniProt
TOPMed
dbSNP
CA353122958
rs923060956
56 T>P No ClinGen
TOPMed
VAR_064655 57 I>del found in a case of clear cell renal carcinoma; somatic mutation [UniProt] No UniProt
rs1402616012
CA353122896
58 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 59 D>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353122840
rs1241024217
60 Y>C No ClinGen
gnomAD
rs373517762
CA2444888
61 K>E No ClinGen
ESP
ExAC
gnomAD
CA2444887
rs771509389
64 Q>R No ClinGen
ExAC
gnomAD
rs368888772
CA2444886
VAR_064656
66 R>G found in a colon cancer cell line [UniProt] No ClinGen
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs758577145
CA2444884
67 L>P No ClinGen
ExAC
gnomAD
TCGA novel 69 C>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1399041381
CA353122590
71 L>P No ClinGen
gnomAD
CA353122557
rs1382054424
73 I>T No ClinGen
gnomAD
TCGA novel 74 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755035966
CA2444881
78 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA2444882
rs755035966
78 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA353119979
rs1195663483
80 N>S No ClinGen
gnomAD
rs1201615673
CA542913929
84 Y>* No ClinGen
gnomAD
rs1242639227
CA353119917
84 Y>N No ClinGen
gnomAD
CA353119885
rs1263745037
86 E>K No ClinGen
gnomAD
CA2444863
rs779102269
89 S>Y No ClinGen
ExAC
gnomAD
VAR_064657 90 Q>E found in a bladder cancer cell line [UniProt] No UniProt
CA353119772
rs1372633093
95 M>I No ClinGen
TOPMed
CA74769108
rs74646140
98 Q>K No ClinGen
Ensembl
rs1227735355
CA353119682
100 K>R No ClinGen
gnomAD
rs1451023142
CA353119543
111 L>S No ClinGen
TOPMed
gnomAD
TCGA novel 112 L>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs867702624
CA74769089
114 A>D No ClinGen
Ensembl
TCGA novel 115 D>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353119432
rs1469677552
116 F>L No ClinGen
TOPMed
TCGA novel 116 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 120 F>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353119351
rs1468575151
121 N>S No ClinGen
TOPMed
TCGA novel 122 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 126 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2444857
rs767623683
127 Y>F No ClinGen
ExAC
gnomAD
CA2444858
rs750391682
127 Y>H No ClinGen
ExAC
gnomAD
CA2444836
rs746006175
130 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA2444834
rs757308937
132 P>L No ClinGen
ExAC
gnomAD
CA2444835
rs139891456
132 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 134 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 134 Y>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 136 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA161386
rs587778592
RCV000121777
137 A>S No ClinGen
ClinVar
Ensembl
dbSNP
TCGA novel 142 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1345333291
CA353116191
143 L>S No ClinGen
gnomAD
VAR_064658 144 Y>F found in a malignant melanoma cell line [UniProt] No UniProt
CA2444831
rs757924256
146 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA2444829
rs764853847
151 F>L No ClinGen
ExAC
gnomAD
CA2444828
rs759080524
152 V>I No ClinGen
ExAC
gnomAD
CA353115950
rs1355959617
155 G>R No ClinGen
TOPMed
rs762326260
CA2444825
159 D>E No ClinGen
ExAC
TOPMed
gnomAD
VAR_064659 160 E>A found in a malignant melanoma cell line [UniProt] No UniProt
rs1327678669
CA353115828
160 E>G No ClinGen
TOPMed
CA2444824
rs774655494
160 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA353115814
rs1426978823
161 D>G No ClinGen
TOPMed
gnomAD
CA2444823
rs769010138
161 D>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs763287444
CA2444822
163 D>G No ClinGen
ExAC
gnomAD
CA353115764
rs1213027214
164 E>G No ClinGen
gnomAD
CA2444821
rs775778967
164 E>K No ClinGen
ExAC
gnomAD
rs745942186
CA2444818
166 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA2444817
rs781444225
166 G>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 167 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA74766472
rs920146921
168 D>E No ClinGen
TOPMed
rs1281777672
CA353115713
168 D>N No ClinGen
gnomAD
rs144003080
CA2444816
169 N>S No ClinGen
ESP
ExAC
gnomAD
CA2444815
rs746949395
171 G>C No ClinGen
ExAC
gnomAD
CA2444813
rs758198630
171 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA2444814
rs758198630
171 G>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 172 T>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353115614
rs1261727399
175 E>K No ClinGen
TOPMed
CA2444812
rs752499912
176 G>A No ClinGen
ExAC
gnomAD
CA353115601
rs1560914802
176 G>R No ClinGen
Ensembl
CA353142924
rs1182431123
178 S>F No ClinGen
gnomAD
CA2444792
rs754615251
179 P>L No ClinGen
ExAC
gnomAD
rs754615251
CA2444791
179 P>R No ClinGen
ExAC
gnomAD
rs779478603
CA2444789
181 Y>C No ClinGen
ExAC
TOPMed
CA353142777
rs1239653223
184 E>G No ClinGen
gnomAD
CA353142762
rs1185988525
185 I>V No ClinGen
gnomAD
rs542464402
CA2444786
187 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 188 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353142561
rs1275698120
192 A>G No ClinGen
gnomAD
CA2444785
rs763396689
193 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA2444784
rs376949564
194 V>I No ClinGen
ESP
ExAC
gnomAD
rs376949564
CA74791735
194 V>L No ClinGen
ESP
ExAC
gnomAD
CA353142459
rs1317016863
196 A>P No ClinGen
TOPMed
gnomAD
CA74791730
rs1011877149
198 N>H No ClinGen
Ensembl
rs1396571484
CA353142404
198 N>S No ClinGen
TOPMed
gnomAD
VAR_064660
rs765525545
CA2444783
202 R>C Variant assessed as Somatic; 0.0 impact. found in a endometrial cancer cell line [NCI-TCGA, UniProt] No ClinGen
UniProt
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs759776302
CA353142315
202 R>H No ClinGen
ExAC
gnomAD
rs759776302
CA2444782
202 R>L No ClinGen
ExAC
gnomAD
CA2444779
rs760805870
204 I>T No ClinGen
ExAC
gnomAD
rs938439524
CA74791681
205 S>G No ClinGen
TOPMed
gnomAD
CA2444778
rs773213985
205 S>T No ClinGen
ExAC
gnomAD
rs1027804016
CA74791680
206 E>A No ClinGen
TOPMed
VAR_064661
CA353142269
rs1359676390
206 E>K Variant assessed as Somatic; impact. found in hematopoietic and lymphoid cancer cell lines [NCI-TCGA, UniProt] No ClinGen
UniProt
NCI-TCGA
dbSNP
gnomAD
CA353142250
rs1207845767
207 L>I No ClinGen
TOPMed
TCGA novel 209 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1560868667
CA353142193
210 K>E No ClinGen
Ensembl
TCGA novel 212 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768346787
CA2444774
215 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA353139731
rs1452505370
221 Y>H No ClinGen
gnomAD
CA2444761
rs761000540
222 A>V No ClinGen
ExAC
TOPMed
TCGA novel 223 I>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
VAR_064662 226 E>G found in hematopoietic and lymphoid cancer cell lines [UniProt] No UniProt
CA353139534
rs1405242902
227 P>A No ClinGen
gnomAD
TCGA novel 227 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM2854207
rs201022657
COSM2854209
CA2444760
COSM2854208
VAR_064663
228 I>V skin found in a breast cancer cell line [Cosmic, UniProt] No ClinGen
cosmic curated
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA2444759
rs767495974
229 D>N No ClinGen
ExAC
gnomAD
VAR_064664 232 T>P found in a case of clear cell renal carcinoma; somatic mutation [UniProt] No UniProt
VAR_064665 233 I>T found in a renal carcinoma cell line [UniProt] No UniProt
rs374259925
CA74788563
233 I>V No ClinGen
ESP
TOPMed
CA2444758
rs761749676
234 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA2444757
rs559073890
236 R>K No ClinGen
1000Genomes
ExAC
gnomAD
CA353137827
rs1226275680
239 N>D No ClinGen
TOPMed
gnomAD
CA2444738
rs762910140
241 S>G No ClinGen
ExAC
gnomAD
CA353137681
rs1315030011
243 K>E No ClinGen
gnomAD
CA2444737
rs775203392
243 K>R No ClinGen
ExAC
gnomAD
CA74787081
rs930104150
245 I>V No ClinGen
TOPMed
RCV000121778
CA161388
rs587778593
246 H>N No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
CA353137551
rs1560759017
246 H>R No ClinGen
Ensembl
CA353137530
rs1577530035
247 A>T No ClinGen
Ensembl
TCGA novel 248 M>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353137377
rs1171540806
249 A>V No ClinGen
TOPMed
CA353137351
rs1366553381
250 K>R No ClinGen
TOPMed
gnomAD
COSM1663346
rs1468547899
CA353137266
COSM1663347
COSM1663348
252 I>T kidney [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1336699347
CA353137269
252 I>V No ClinGen
gnomAD
VAR_064666
rs776146971
CA2444735
256 A>T Variant assessed as Somatic; 4.622e-05 impact. found in an ovary carcinoma cell line [NCI-TCGA, UniProt] No ClinGen
UniProt
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
TCGA novel 258 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 262 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 262 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353136782
rs1190586070
264 E>G No ClinGen
gnomAD
CA74787066
rs963262810
268 Q>H No ClinGen
TOPMed
TCGA novel 271 K>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353135270
rs1473745423
272 D>H No ClinGen
gnomAD
TCGA novel 273 A>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353135051
rs1560714275
278 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA353135029
rs1185098475
279 I>K No ClinGen
gnomAD
TCGA novel 279 I>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1185098475
CA353135022
279 I>T No ClinGen
gnomAD
rs369874660
CA2444710
279 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs771618422 279 I>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA2444708
rs772781719
COSM1663344
COSM1663343
COSM1663345
281 Y>F kidney [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA353134878
rs1456829704
283 K>E No ClinGen
TOPMed
TCGA novel 283 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353134859
rs1205460631
284 K>Q No ClinGen
gnomAD
CA353134827
rs1165577622
285 A>V No ClinGen
TOPMed
CA353134823
rs1490033079
286 E>K No ClinGen
gnomAD
CA353134782
rs1288968634
287 I>T No ClinGen
TOPMed
gnomAD
rs370211100
CA2444706
288 E>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780700287
CA2444705
289 H>R No ClinGen
ExAC
gnomAD
TCGA novel 291 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs558495798
CA74785620
291 E>K No ClinGen
1000Genomes
TCGA novel 292 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770383330
CA2444704
293 A>V No ClinGen
ExAC
gnomAD
rs995859396
CA74785617
296 S>T No ClinGen
gnomAD
CA74785614
rs185448951
298 R>Q No ClinGen
1000Genomes
gnomAD
CA353134313
rs1310042762
299 M>I No ClinGen
gnomAD
rs1321002922
CA353133714
304 N>S No ClinGen
TOPMed
gnomAD
rs1456923730
CA353133686
306 A>G No ClinGen
TOPMed
rs1271218463
CA353133634
308 A>D No ClinGen
gnomAD
rs1463926262
CA353133646
308 A>P No ClinGen
TOPMed
gnomAD
CA2444686
rs774022977
309 R>K No ClinGen
ExAC
CA353133568
rs1560695240
311 T>A No ClinGen
Ensembl
CA353133545
rs1346930110
311 T>R No ClinGen
TOPMed
CA2444685
rs770161934
312 G>D No ClinGen
ExAC
gnomAD
CA2444684
rs746391738
313 P>A No ClinGen
ExAC
gnomAD
rs746633005
CA74784974
315 H>Q No ClinGen
ExAC
gnomAD
rs1342451247
CA353133421
315 H>Y No ClinGen
gnomAD
CA353133356
rs1276712891
317 K>E No ClinGen
gnomAD
CA74784970
rs959810153
318 G>D No ClinGen
Ensembl
rs1360187985
CA353133141
324 R>I No ClinGen
gnomAD
CA353133101
rs1577385768
325 N>H No ClinGen
Ensembl
TCGA novel 325 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1577385704
CA353133044
326 P>L No ClinGen
Ensembl
rs1295615404
CA353133001
328 S>N No ClinGen
gnomAD
rs1458757274
CA353132980
329 K>Q No ClinGen
TOPMed
gnomAD
rs1284306673
CA353132929
330 Y>H No ClinGen
TOPMed
rs747444363
CA2444681
331 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs374515597
CA2444679
332 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353132887
rs374515597
332 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2444678
rs748174546
332 R>H No ClinGen
ExAC
gnomAD
TCGA novel 333 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA161376
RCV000121772
rs547790173
333 N>S No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA353132018
rs1560675648
333 N>Y No ClinGen
Ensembl
rs1245408239
CA353131807
339 G>E No ClinGen
gnomAD
VAR_064667
rs200106731
CA2444636
340 G>A found in a malignant melanoma cell line [UniProt] No ClinGen
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA353131781
rs200106731
340 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2444637
rs751210666
340 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA74784251
rs764156634
341 R>C No ClinGen
TOPMed
gnomAD
rs373247018
CA2444635
341 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766863761
CA2444633
344 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs1301977768
CA353131530
345 I>T No ClinGen
gnomAD
rs761199482
CA2444632
345 I>V No ClinGen
ExAC
gnomAD
TCGA novel 347 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353131489
rs1239938907
347 M>V No ClinGen
TOPMed
CA353131420
rs1455995188
348 A>V No ClinGen
gnomAD
rs773495785
CA2444631
349 L>F No ClinGen
ExAC
gnomAD
rs369012659
CA2444630
350 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774627745
CA2444628
351 Y>C No ClinGen
ExAC
TOPMed
CA353131338
rs1407715900
352 G>V No ClinGen
gnomAD
rs147057026
CA74784199
355 S>N No ClinGen
ESP
CA2444626
rs749364981
357 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1252895125
CA353131170
358 D>G No ClinGen
gnomAD
TCGA novel 358 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1487575653
CA353131138
359 A>T No ClinGen
gnomAD
rs1174970365
CA353131111
360 A>T No ClinGen
TOPMed
TCGA novel 360 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1267092200
CA353131094
361 L>V No ClinGen
gnomAD
rs1307761878
CA353128433
363 A>V No ClinGen
TOPMed
rs147499494
CA2444600
365 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2444601
rs147499494
365 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2444599
rs757998686
365 R>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 365 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA161378
rs373477703
RCV000121773
366 Y>C No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA2444598
rs778591127
366 Y>H No ClinGen
ExAC
gnomAD
rs778591127
CA2444597
366 Y>N No ClinGen
ExAC
gnomAD
rs373477703
CA2444596
366 Y>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353128210
rs1246059681
374 E>G No ClinGen
gnomAD
CA353128156
rs1190464445
377 T>I No ClinGen
gnomAD
CA353128168
rs1354426625
377 T>P No ClinGen
TOPMed
CA74779047
rs896608828
378 S>A No ClinGen
TOPMed
gnomAD
rs767987709
CA2444595
381 D>G No ClinGen
ExAC
gnomAD
TCGA novel 382 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751885636
CA2444593
383 S>L No ClinGen
ExAC
gnomAD
CA74779025
rs913417875
384 N>H No ClinGen
gnomAD
CA353128013
rs1176334509
385 P>R No ClinGen
TOPMed
gnomAD
rs764381947
CA2444592
386 F>S No ClinGen
ExAC
gnomAD
TCGA novel 387 Y>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs866423710
CA74779015
388 Q>H No ClinGen
Ensembl
CA74779009
rs935520845
389 L>I No ClinGen
TOPMed
CA2444591
rs763433177
390 Y>F No ClinGen
ExAC
gnomAD
rs775851420
CA2444590
392 T>R No ClinGen
ExAC
gnomAD
CA353127825
rs1440257006
396 C>Y No ClinGen
TOPMed
CA2444588
rs759670972
397 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1394725381
CA353127813
397 R>W No ClinGen
gnomAD
CA2444586
rs770955783
398 N>T No ClinGen
ExAC
gnomAD
rs746922143
CA2444585
400 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA2444583
rs140652006
406 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353127666
rs1449987855
406 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA353127651
rs748039131
407 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA353127621
rs778505553
407 P>L No ClinGen
ExAC
gnomAD
CA2444581
rs778505553
407 P>R No ClinGen
ExAC
gnomAD
rs748039131
CA74778926
407 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs748039131
CA2444582
407 P>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 409 Y>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1256365201
CA353127569
410 H>R No ClinGen
gnomAD
rs1194904129
CA353127534
412 P>S No ClinGen
gnomAD
TCGA novel 417 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2444578
rs779570305
417 Y>N No ClinGen
ExAC
gnomAD
TCGA novel 417 Y>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1343496358
CA353127346
419 D>H No ClinGen
TOPMed
gnomAD
rs1343496358
CA353127348
419 D>N No ClinGen
TOPMed
gnomAD
CA2444577
rs757726623
422 Q>R No ClinGen
ExAC
gnomAD
rs1243048171
CA353127233
423 Q>L No ClinGen
gnomAD
TCGA novel 425 K>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353127185
rs1314419859
426 M>T No ClinGen
TOPMed
rs1266329257
CA353127130
428 I>M No ClinGen
TOPMed
CA2444575
rs764729828
428 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 429 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1458130128
CA353127068
431 Q>R No ClinGen
TOPMed
gnomAD
rs1389898698
CA353127014
434 R>Q No ClinGen
TOPMed
gnomAD
CA353125267
rs1244486563
435 T>K No ClinGen
gnomAD
CA353125028
rs1208471505
441 E>A No ClinGen
gnomAD
rs745423588
CA2444557
444 T>I No ClinGen
ExAC
gnomAD
CA353124829
rs1270204507
445 L>S No ClinGen
gnomAD
COSM1291746
CA2444556
COSM1291747
COSM1291745
rs778123731
446 D>G haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA353124746
rs1560516560
447 H>Q No ClinGen
Ensembl
CA353124774
rs1474605653
447 H>Y No ClinGen
TOPMed
TCGA novel 448 L>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353124713
rs758971781
449 E>A No ClinGen
ExAC
gnomAD
rs758971781
CA2444555
449 E>G No ClinGen
ExAC
gnomAD
CA353124716
rs1188691461
449 E>Q No ClinGen
TOPMed
rs753073607
CA2444554
450 C>F No ClinGen
ExAC
TOPMed
gnomAD
CA74775289
rs113443596
456 F>L No ClinGen
Ensembl
CA353124410
rs1438786040
460 K>R No ClinGen
TOPMed
gnomAD
COSM3427748
COSM3427746
rs779427834
CA2444553
COSM3427747
461 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA2444552
rs755190183
461 R>H No ClinGen
ExAC
gnomAD
CA2444551
rs754097433
463 N>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 464 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2444550
rs766686111
465 P>A No ClinGen
ExAC
gnomAD
CA74775273
rs1048538214
468 A>V No ClinGen
Ensembl
TCGA novel 469 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353124075
rs1413539193
469 I>T No ClinGen
gnomAD
CA2444547
rs781546758
470 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA2444546
rs375222169
471 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2444545
rs567250482
472 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA353123943
rs567250482
472 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2444544
rs768428845
473 V>I No ClinGen
ExAC
gnomAD
rs774975430
CA2444542
477 Q>R No ClinGen
ExAC
gnomAD
TCGA novel 479 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745324755
CA2444540
479 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1348721028
CA353123676
480 M>T No ClinGen
gnomAD
TCGA novel 484 K>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 485 K>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353123306
rs1302976139
486 E>D No ClinGen
gnomAD
rs1031229949
CA74774293
486 E>K No ClinGen
TOPMed
CA353123304
rs1465210090
487 L>F No ClinGen
gnomAD
CA2444527
rs34704994
488 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs762715677
CA2444526
488 A>V No ClinGen
ExAC
gnomAD
rs145261114
CA2444525
489 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs964967913
CA74774252
492 D>N No ClinGen
gnomAD
rs147488144
CA353123177
493 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA353123183
rs1376740803
493 I>T No ClinGen
gnomAD
CA353123150
rs1400672969
494 E>G No ClinGen
TOPMed
rs371948738
CA2444522
494 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs889851563
CA74774232
496 G>E No ClinGen
TOPMed
gnomAD
CA353123124
rs1305638216
496 G>R No ClinGen
gnomAD
TCGA novel 498 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 500 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2444518
rs374799219
508 G>S No ClinGen
ESP
ExAC
gnomAD
rs1011750064
CA74774201
511 K>E No ClinGen
Ensembl
TCGA novel 514 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353119470
rs1412410494
516 K>R No ClinGen
TOPMed
TCGA novel 517 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs148299797
CA2444492
518 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 521 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 522 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
VAR_064668 523 M>I found in a case of clear cell renal carcinoma; somatic mutation [UniProt] No UniProt
CA74768406
rs769288761
525 I>M No ClinGen
Ensembl
TCGA novel 527 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777837959
CA2444491
527 F>L No ClinGen
ExAC
gnomAD
rs201580633
CA2444490
528 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1279388550
CA353119139
529 V>D No ClinGen
Ensembl
rs931547681
CA74768402
531 L>V No ClinGen
TOPMed
gnomAD
CA2444489
rs752670032
534 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA353118996
rs1384342266
540 R>K No ClinGen
gnomAD
VAR_064669 540 R>S found in a case of clear cell renal carcinoma; somatic mutation [UniProt] No UniProt
TCGA novel 546 F>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 546 F>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 554 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754768297
CA2444487
555 Y>C No ClinGen
ExAC
gnomAD
TCGA novel 558 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 561 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1388326171
CA353118641
563 L>W No ClinGen
gnomAD
TCGA novel 571 I>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 571 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 572 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1217543982
CA353118455
572 E>D No ClinGen
TOPMed
TCGA novel 572 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353118440
rs1428915766
573 H>R No ClinGen
gnomAD
rs965565832
CA74768390
576 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs554214396
CA2444484
576 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1633256
CA2444483
COSM1633257
COSM1633258
rs554214396
576 R>L liver [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs115997236
CA2444482
577 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 581 A>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353118212
rs1283574490
581 A>S No ClinGen
TOPMed
CA353118175
COSM1186319
COSM1186320
rs1342068320
COSM1186321
582 G>S lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs770253796
CA2444479
584 E>D No ClinGen
ExAC
gnomAD
CA353118066
rs1476792117
585 G>E No ClinGen
TOPMed
rs191685069
CA2444478
585 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA353118067
rs1476792117
585 G>V No ClinGen
TOPMed
COSM446841
COSM446843
CA353118034
COSM446842
rs1192414131
586 M>I Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1394528754
CA353117989
588 E>K No ClinGen
gnomAD
CA353117857
rs1156645577
591 K>T No ClinGen
TOPMed
gnomAD
CA353117709
rs1473718435
594 F>L No ClinGen
gnomAD
rs771077313
CA2444476
595 R>Q No ClinGen
ExAC
gnomAD
CA2444477
rs777012889
595 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
VAR_064670 597 A>D found in a case of clear cell renal carcinoma; somatic mutation [UniProt] No UniProt
CA353117650
rs1158451345
597 A>T No ClinGen
TOPMed
TCGA novel 598 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1000859863
CA74768360
599 H>R No ClinGen
Ensembl
CA353116817
rs1471300592
611 A>T No ClinGen
gnomAD
rs1576783243
CA353116814
611 A>V No ClinGen
Ensembl
rs773389113
CA2444455
613 I>M No ClinGen
ExAC
gnomAD
CA2444456
rs138925978
613 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 617 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353116609
rs1267343896
619 K>R No ClinGen
gnomAD
VAR_064671 621 K>E found in a case of clear cell renal carcinoma; somatic mutation [UniProt] No UniProt
CA2444453
rs748206914
622 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA2444452
rs140241012
623 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1169377404
CA353116449
624 E>K No ClinGen
TOPMed
rs1227926175
CA353116245
629 P>L No ClinGen
Ensembl
CA2444449
rs780198680
630 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1300222257
CA353116064
634 M>T No ClinGen
TOPMed
rs755967526
CA2444448
634 M>V No ClinGen
ExAC
gnomAD
COSM480380
rs770885191
COSM480379
CA74767465
636 S>P kidney [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1024011941
CA353115893
639 L>P No ClinGen
TOPMed
rs1024011941
CA74767460
639 L>R No ClinGen
TOPMed
TCGA novel 641 L>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2444446
rs780848542
641 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA353114215
rs1455942323
643 R>G No ClinGen
gnomAD
CA353114174
rs1188313069
646 G>D No ClinGen
TOPMed
gnomAD
CA353114172
rs1188313069
646 G>V No ClinGen
TOPMed
gnomAD
CA353114119
rs1279606037
650 K>E No ClinGen
gnomAD
CA2444425
rs199992446
652 S>A No ClinGen
ExAC
TOPMed
gnomAD
rs1278253484
CA353114013
655 M>T No ClinGen
gnomAD
rs1441864184
CA353114020
655 M>V No ClinGen
gnomAD
rs1348496356
CA353113956
658 M>I No ClinGen
gnomAD
rs142078067
CA2444424
658 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs925277999
CA74764743
660 Q>E No ClinGen
Ensembl
TCGA novel 660 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
VAR_064672 661 K>N found in a case of clear cell renal carcinoma; somatic mutation [UniProt] No UniProt
CA353113887
rs1412847071
663 N>D No ClinGen
TOPMed
TCGA novel 663 N>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2444423
rs752249293
663 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA353113856
rs1315914230
664 E>G No ClinGen
gnomAD
CA353113756
rs1270365723
669 V>E No ClinGen
gnomAD
CA353113743
rs1338379489
670 K>R No ClinGen
gnomAD
CA2444419
rs767784352
671 N>S No ClinGen
ExAC
gnomAD
VAR_064673 674 D>E found in a case of clear cell renal carcinoma; somatic mutation [UniProt] No UniProt
TCGA novel 675 K>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1408533735
CA353113551
677 G>S No ClinGen
gnomAD
VAR_064674
CA353113535
rs1422119249
678 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
UniProt
NCI-TCGA
dbSNP
gnomAD
rs1187519621
CA353113531
678 R>H No ClinGen
gnomAD
rs764416320
CA2444416
679 R>C No ClinGen
ExAC
gnomAD
rs763078803
CA2444415
679 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 680 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2444412
rs745815678
683 I>V No ClinGen
ExAC
gnomAD
CA74764676
rs113052475
691 S>P No ClinGen
Ensembl
CA353113225
rs1227600181
692 E>Q No ClinGen
gnomAD
rs777272973
CA2444408
695 D>N No ClinGen
ExAC
gnomAD
TCGA novel 697 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 700 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 703 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747614290
CA2444406
704 M>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 706 M>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA74764664
rs980527559
708 K>R No ClinGen
Ensembl
CA353112802
rs1274200331
710 R>Q No ClinGen
TOPMed
CA2444405
rs778396949
711 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs1308843367
CA353112751
713 M>I No ClinGen
Ensembl
rs1440617183
CA353112694
715 A>T No ClinGen
gnomAD
rs756552548
CA2444404
716 N>D No ClinGen
ExAC
gnomAD
rs569156539
CA2444403
716 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA74764659
rs867544536
719 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1415875534
CA353112548
720 D>N No ClinGen
gnomAD
CA2444401
rs757530012
721 I>M No ClinGen
ExAC
gnomAD
rs142097913
CA2444402
721 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs993596903
CA74764656
723 S>C No ClinGen
TOPMed
gnomAD
TCGA novel 728 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764372541
CA2444399
730 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs1233447219
CA353112200
731 M>V No ClinGen
gnomAD
rs187860752
CA2444398
735 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA353111929
rs1274619069
737 T>I No ClinGen
gnomAD
CA353111742
rs1293010915
740 E>D No ClinGen
TOPMed
rs1489476425
CA353111698
741 P>L No ClinGen
TOPMed
CA2444394
rs776404492
742 E>D No ClinGen
ExAC
gnomAD
TCGA novel 742 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2444392
rs770955246
747 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA353111413
rs1376146321
749 A>D No ClinGen
TOPMed
gnomAD
CA353111408
rs1376146321
749 A>G No ClinGen
TOPMed
gnomAD
TCGA novel 755 V>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760334376
CA2444391
759 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA353111068
rs1328407334
760 R>C No ClinGen
gnomAD
CA2444389
rs199976998
760 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs747810053
CA2444388
761 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs935166462
CA74764635
763 L>R No ClinGen
TOPMed
rs1381093905
CA353110955
764 E>G No ClinGen
Ensembl
TCGA novel 765 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1560329503
CA353110807
767 E>G No ClinGen
Ensembl
rs768149020
CA2444386
769 S>F No ClinGen
ExAC
gnomAD
rs748868964
CA2444385
770 H>R No ClinGen
ExAC
gnomAD
rs1329110900
CA353110709
770 H>Y No ClinGen
TOPMed
rs1190579793
CA353110688
771 V>I No ClinGen
gnomAD
CA2444384
rs781527726
772 P>S No ClinGen
ExAC
gnomAD
rs1560328862
CA353110652
773 N>D No ClinGen
Ensembl
TCGA novel 776 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757814394
CA2444383
778 I>T No ClinGen
ExAC
gnomAD
COSM1309364
COSM1309363
COSM1309365
CA2444382
rs751804410
779 Q>E Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA353110447
rs1464157273
781 L>F No ClinGen
gnomAD
rs778298271
CA2444381
781 L>H No ClinGen
ExAC
gnomAD
rs1560328551
CA353110429
782 I>V No ClinGen
Ensembl
rs752965439
CA2444379
784 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA353110088
rs1442174568
794 D>G No ClinGen
gnomAD
CA353109978
rs1384458457
798 R>G No ClinGen
gnomAD
CA2444374
rs766182437
799 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA353109902
rs760662449
801 S>I No ClinGen
ExAC
gnomAD
CA2444373
rs760662449
801 S>N No ClinGen
ExAC
gnomAD
TCGA novel 802 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353109840
rs1452465002
804 L>S No ClinGen
gnomAD
CA2444372
rs772930853
806 E>G No ClinGen
ExAC
gnomAD
rs771839282
CA2444371
808 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1194011743
CA353109750
808 P>T No ClinGen
gnomAD
CA353109728
rs1259143896
809 A>T No ClinGen
gnomAD
CA74764566
rs1043720625
810 V>M No ClinGen
TOPMed
gnomAD
rs761661407
CA2444370
812 P>T No ClinGen
ExAC
gnomAD
CA2444369
rs773959868
813 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs768403462
CA353109573
813 N>I No ClinGen
ExAC
TOPMed
gnomAD
CA2444368
rs768403462
813 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs768403462
CA74764561
813 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs748698167
CA2444367
814 F>L No ClinGen
ExAC
gnomAD
CA353109506
rs1346329402
815 P>A No ClinGen
TOPMed
gnomAD
CA353109496
rs1283107190
815 P>L No ClinGen
TOPMed
gnomAD
CA353109499
rs1283107190
815 P>R No ClinGen
TOPMed
gnomAD
CA353109508
rs1346329402
815 P>T No ClinGen
TOPMed
gnomAD
CA353109469
rs1326243655
CA353109466
816 N>K No ClinGen
TOPMed
gnomAD
rs779620657
CA2444366
816 N>S No ClinGen
ExAC
gnomAD
CA74764552
rs994266706
816 N>Y No ClinGen
TOPMed
CA353109424
rs1293640241
818 P>L No ClinGen
gnomAD
rs1362965282
CA353109402
820 L>V No ClinGen
gnomAD
CA2444364
rs771658417
821 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA353109371
COSM191314
rs771658417
821 T>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA353109365
rs1377130464
822 F>L No ClinGen
gnomAD
rs758808260
CA2444362
824 I>V No ClinGen
ExAC
gnomAD
TCGA novel 825 I>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1388332299
CA353108449
828 N>K No ClinGen
TOPMed
CA353108447
rs1195116525
829 V>F No ClinGen
gnomAD
COSM3427743
COSM3427744
CA2444360
rs146395938
COSM3427745
833 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2444359
rs755255835
833 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA2444357
rs766489990
834 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs753789544
CA2444358
834 Y>H No ClinGen
ExAC
gnomAD
rs750354025
CA2444355
835 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs200522912
CA2444354
835 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs761573345
CA2444353
836 R>Q No ClinGen
ExAC
gnomAD
COSM1424542
COSM1424543
rs1438592568
CA353108327
COSM1424544
836 R>W kidney large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA74764506
rs183157690
837 L>V No ClinGen
1000Genomes
rs1046104853
CA74764502
841 Q>H No ClinGen
TOPMed
gnomAD
CA353108200
rs1412936146
842 E>G No ClinGen
gnomAD
rs930364741
CA74764500
843 H>R No ClinGen
TOPMed
gnomAD
CA353108170
rs1313358258
844 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs774153419
CA353108125
845 F>C No ClinGen
ExAC
gnomAD
rs763587751
CA2444351
845 F>L No ClinGen
ExAC
gnomAD
rs774153419
CA2444352
845 F>S No ClinGen
ExAC
gnomAD
CA2444349
rs775065185
847 V>L No ClinGen
ExAC
rs1462321719
CA353108019
851 A>G No ClinGen
gnomAD
rs745413697
CA2444347
853 R>S No ClinGen
ExAC
gnomAD
TCGA novel 854 M>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1475875374
CA353107982
854 M>V No ClinGen
gnomAD
rs1457764063
CA353107929
856 R>Q No ClinGen
TOPMed
CA2444325
rs149186835
861 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 861 I>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2444324
rs371456253
862 Y>H No ClinGen
ESP
ExAC
gnomAD
rs770026090
CA2444322
865 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs780302565
CA2444323
865 A>T No ClinGen
ExAC
gnomAD
TCGA novel 869 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 869 Q>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 872 F>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 872 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 872 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 872 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353106255
rs1348672350
872 F>V No ClinGen
gnomAD
TCGA novel 875 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2444321
rs745908384
875 I>T No ClinGen
ExAC
gnomAD
rs1239654517
CA353106196
876 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA353106173
rs1370210377
877 D>G No ClinGen
gnomAD
rs71299609
CA74761674
881 K>Q No ClinGen
Ensembl
CA2444318
rs751492205
883 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs758188391
CA2444316
885 I>T No ClinGen
ExAC
gnomAD
CA353106015
rs1297138191
885 I>V No ClinGen
TOPMed
CA353105997
rs1370481342
886 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA2444315
rs752454573
889 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA353105936
rs1395076055
890 A>T No ClinGen
gnomAD
TCGA novel 892 S>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
VAR_064675
rs753344888
CA2444312
893 Y>C found in hematopoietic, lymphoid, lung and liver cancer cell lines [UniProt] No ClinGen
UniProt
ExAC
TOPMed
dbSNP
gnomAD
rs1220582073
CA353105867
894 T>A No ClinGen
TOPMed
gnomAD
rs1445546752
CA353105839
895 T>I No ClinGen
gnomAD
VAR_064676 895 T>S found in a lung cancer cell line [UniProt] No UniProt
TCGA novel 896 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1347039240
CA353105719
900 N>S No ClinGen
gnomAD
CA353105679
rs1278117574
902 V>M No ClinGen
TOPMed
gnomAD
TCGA novel 903 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1222899722
CA353105631
904 K>Q No ClinGen
TOPMed
TCGA novel 909 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 913 E>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA74761631
rs1001681503
914 I>T No ClinGen
Ensembl
rs760331627
CA353105075
919 L>P No ClinGen
ExAC
gnomAD
rs760331627
CA2444310
919 L>Q No ClinGen
ExAC
gnomAD
CA353105021
rs1428187629
921 R>Q No ClinGen
gnomAD
rs774893166
CA2444309
922 E>K No ClinGen
ExAC
gnomAD
VAR_064677 922 E>Q found in a breast cancer cell line [UniProt] No UniProt
rs769094785
CA2444308
923 E>K No ClinGen
ExAC
gnomAD
CA353104944
rs1375307569
924 E>G No ClinGen
gnomAD
rs763328959
CA2444307
924 E>K No ClinGen
ExAC
gnomAD
VAR_064678 925 K>Q found in a colon cancer cell line [UniProt] No UniProt
TCGA novel 926 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 927 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749924765
CA2444291
929 E>K No ClinGen
ExAC
gnomAD
rs956368229
CA74790192
929 E>V No ClinGen
Ensembl
rs764622654
CA2444290
931 S>G No ClinGen
ExAC
gnomAD
rs763374308
CA2444289
931 S>N No ClinGen
ExAC
gnomAD
TCGA novel 932 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353176601
rs1234239710
932 E>K No ClinGen
TOPMed
rs765579974
CA2444287
935 S>F No ClinGen
ExAC
gnomAD
CA353176461
rs1401109882
936 G>C No ClinGen
TOPMed
rs1385173049
CA353176456
936 G>D No ClinGen
TOPMed
CA353176467
rs1401109882
936 G>S No ClinGen
TOPMed
rs375764191
CA74790152
937 A>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759932249
CA2444286
937 A>S No ClinGen
ExAC
gnomAD
rs375764191
CA2444285
937 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2444284
rs771161122
938 A>V No ClinGen
ExAC
gnomAD
rs587778591
CA353176385
939 G>A No ClinGen
TOPMed
gnomAD
CA353176392
rs1232278552
939 G>S No ClinGen
gnomAD
rs587778591
RCV000121774
CA161380
939 G>V No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs1228455931
CA353176380
940 L>F No ClinGen
TOPMed
gnomAD
TCGA novel 940 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2444282
rs141067977
941 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs771983602
CA2444281
944 H>R No ClinGen
ExAC
gnomAD
rs777583945
CA74790139
944 H>Y No ClinGen
gnomAD
rs1402934247
CA353176274
945 R>C No ClinGen
gnomAD
rs558843390
CA2444280
945 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1470122828
CA353176094
950 D>Y No ClinGen
TOPMed
gnomAD
CA353175765
rs1211663291
956 S>I No ClinGen
gnomAD
rs749147440
CA2444277
957 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA2444278
rs145255292
957 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 958 Y>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2444276
rs372395774
959 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766950254
CA2444273
962 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs753112917
CA2444271
964 V>A No ClinGen
ExAC
gnomAD
CA2444272
rs756858926
964 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1242877278
CA353175411
965 Y>F No ClinGen
TOPMed
CA353175302
rs1274674750
966 V>A No ClinGen
TOPMed
gnomAD
CA2444270
rs200477547
972 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1475165913
CA353174950
976 H>R No ClinGen
TOPMed
TCGA novel 976 H>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2444269
rs759844033
977 I>V No ClinGen
ExAC
TOPMed
gnomAD
COSM220149
CA353174876
rs1379809767
978 V>A haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
gnomAD
rs375687372
CA2444267
978 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 980 I>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA74790013
rs960330741
981 E>A No ClinGen
TOPMed
rs1560121508
CA353174705
985 E>K No ClinGen
Ensembl
CA353172236
rs1176569585
990 E>K No ClinGen
gnomAD
TCGA novel 991 K>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 991 K>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA74788864
rs1035224558
992 W>* No ClinGen
Ensembl
TCGA novel 992 W>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1259299276
CA353171975
994 Y>C No ClinGen
gnomAD
CA2444242
rs146315609
996 C>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1576218709
CA353171871
996 C>W No ClinGen
Ensembl
TCGA novel 999 Y>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750583919
CA2444241
1000 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 1004 T>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353171430
rs1248847706
1006 H>Y No ClinGen
TOPMed
rs1258134094
CA353171377
1007 L>V No ClinGen
gnomAD
CA353171354
rs1234499336
1008 A>T No ClinGen
gnomAD
TCGA novel 1012 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM3824339
COSM3824340
CA353171149
rs1469145695
COSM3824341
1014 E>Q Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
TCGA novel 1016 E>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1017 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1178581128
CA353170868
1018 F>C No ClinGen
TOPMed
rs774605948
CA2444238
1022 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA353170734
rs774605948
1022 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA353170672
rs1179315912
1024 N>S No ClinGen
TOPMed
CA353170606
rs1412822043
1027 P>A No ClinGen
gnomAD
CA353170391
rs775626700
1034 K>N No ClinGen
ExAC
gnomAD
rs1256276641
CA353170396
1034 K>R No ClinGen
gnomAD
rs777465977
CA2444210
1044 F>S No ClinGen
ExAC
gnomAD
CA353169051
rs1454808042
1045 K>E No ClinGen
TOPMed
rs771543116
CA2444209
1047 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA2444208
rs747709999
1047 C>Y No ClinGen
ExAC
gnomAD
rs187978633
CA2444207
1051 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2444206
rs756678646
1052 R>Q No ClinGen
ExAC
gnomAD
rs750687374
CA2444205
1053 D>A No ClinGen
ExAC
gnomAD
rs1055502479
CA74788281
1054 E>D No ClinGen
TOPMed
CA353168703
rs1160034633
1054 E>Q No ClinGen
TOPMed
TCGA novel 1055 D>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757754297
CA2444203
1062 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs781632065
CA2444204
1062 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA353168179
rs1323522157
1064 S>F No ClinGen
gnomAD
rs1007067661
CA74788272
1065 A>D No ClinGen
Ensembl
rs1390795242
CA353167884
1070 F>S No ClinGen
gnomAD
rs201103279
CA2444201
1071 K>N No ClinGen
1000Genomes
ExAC
gnomAD
rs758502969
CA2444200
1073 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA2444196
rs776487197
1078 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA353167608
rs1252564810
1078 M>T No ClinGen
gnomAD
CA353167585
rs1374811960
1079 P>L No ClinGen
TOPMed
rs766154467
CA2444195
1079 P>S No ClinGen
ExAC
gnomAD
VAR_064679 1079 P>Y requires 2 nucleotide substitutions; found in a colon cancer cell line [UniProt] No UniProt
rs759389631
CA74788219
1081 S>G No ClinGen
Ensembl
rs772833716
CA2444193
1083 V>I No ClinGen
ExAC
gnomAD
rs771737225
CA2444192
1086 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs1346914147
CA353167338
1087 P>L No ClinGen
gnomAD
CA353167348
rs1346914147
1087 P>R No ClinGen
gnomAD
CA353167313
COSM1047082
COSM1047083
COSM1047081
rs1331392443
1088 R>Q endometrium [Cosmic] No ClinGen
cosmic curated
gnomAD
rs746373271
CA2444188
1088 R>W No ClinGen
ExAC
gnomAD
rs936829713
CA74788196
1090 V>M No ClinGen
TOPMed
gnomAD
TCGA novel 1093 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781617265
CA2444187
1093 P>L No ClinGen
ExAC
gnomAD
CA74788193
rs766031717
1093 P>T No ClinGen
TOPMed
gnomAD
rs1161005639
CA353167152
1095 V>F No ClinGen
gnomAD
TCGA novel 1095 V>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs141958485
CA2444186
1096 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs143085435
CA2444185
1097 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA74788166
rs143085435
1097 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2444184
rs201156614
1098 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1732135
COSM1732136
COSM1732134
rs201156614
CA2444183
VAR_064680
1098 A>S kidney found in hematopoietic and lymphoid cancer cell lines [Cosmic, UniProt] No ClinGen
cosmic curated
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs201156614
CA353167087
1098 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1104 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2444181
rs765343290
1104 A>V No ClinGen
ExAC
gnomAD
CA2444180
rs755075248
1105 D>H No ClinGen
ExAC
gnomAD
rs917889600
CA74788130
1109 D>E No ClinGen
Ensembl
CA2444179
rs377485917
1109 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA74788126
rs865889670
1112 N>H No ClinGen
gnomAD
CA353166714
rs1276233437
1114 D>E No ClinGen
TOPMed
gnomAD
rs529483378
CA2444178
1114 D>G No ClinGen
1000Genomes
ExAC
gnomAD
CA353166708
rs1413331563
1115 N>D No ClinGen
TOPMed
rs760418452
CA2444177
1115 N>S No ClinGen
ExAC
gnomAD
rs767093710
CA2444175
1116 S>A No ClinGen
ExAC
gnomAD
CA2444176
rs767093710
1116 S>P No ClinGen
ExAC
gnomAD
rs990834187
CA74788089
1118 D>G No ClinGen
Ensembl
rs1560095469
CA353166669
1118 D>N No ClinGen
Ensembl
rs35102895
CA74788079
1120 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2444173
VAR_064681
rs35102895
1120 R>Q found in hematopoietic and lymphoid cancer cell lines [UniProt] No ClinGen
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA353166644
rs1341857262
1121 A>S No ClinGen
gnomAD
rs768209099
CA2444172
1124 N>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1126 N>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777228498
CA2444170
1127 L>F No ClinGen
ExAC
gnomAD
CA353163722
rs1395568069
1132 E>D No ClinGen
TOPMed
CA353163731
rs1175464873
1132 E>Q No ClinGen
TOPMed
rs200632871
CA2444153
1133 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200632871
CA2444154
1133 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1232088834
CA353163692
1135 P>A No ClinGen
gnomAD
TCGA novel 1135 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2444152
rs762485022
1136 V>L No ClinGen
ExAC
gnomAD
rs1458775323
CA353163664
1137 E>V No ClinGen
gnomAD
CA2444150
rs373854321
1140 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs141109671
CA74783840
1145 C>Y No ClinGen
ESP
rs761247872
CA2444149
1146 H>Q No ClinGen
ExAC
gnomAD
TCGA novel 1147 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773919133
CA74783825
1148 F>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1150 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772449438
CA2444147
1152 H>R No ClinGen
ExAC
gnomAD
CA353163367
rs1165848783
1154 N>S No ClinGen
TOPMed
gnomAD
rs748508046
CA2444146
1156 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA353163342
rs1306278787
1156 M>V No ClinGen
TOPMed
rs1348177372
CA353163223
1163 C>S No ClinGen
TOPMed
gnomAD
TCGA novel 1164 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768794473
CA2444144
1166 I>L No ClinGen
ExAC
gnomAD
CA353163111
rs1405871349
1169 H>Y No ClinGen
gnomAD
rs780124443
CA2444142
1173 R>C No ClinGen
ExAC
gnomAD
rs1318993618
CA353163032
1173 R>H No ClinGen
TOPMed
TCGA novel 1174 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1175 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs369155727
CA2444140
1176 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353162928
rs369155727
1176 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
VAR_064682 1177 G>S found in a kidney cancer cell line [UniProt] No UniProt
rs533143558
CA2444139
1178 R>K No ClinGen
1000Genomes
ExAC
gnomAD
rs1360491739
CA353161296
1180 E>K No ClinGen
gnomAD
CA2444112
rs753432959
1185 R>Q No ClinGen
ExAC
gnomAD
CA74782069
rs866217387
1189 A>T No ClinGen
Ensembl
TCGA novel 1195 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1197 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353159713
rs1467942087
1202 T>A No ClinGen
TOPMed
gnomAD
rs764361753
CA2444108
1202 T>I No ClinGen
ExAC
gnomAD
TCGA novel 1202 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1203 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
VAR_064683 1204 H>P found in a case of clear cell renal carcinoma; somatic mutation [UniProt] No UniProt
TCGA novel 1206 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1209 M>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
VAR_064684 1209 M>del found in a case of clear cell renal carcinoma; somatic mutation [UniProt] No UniProt
rs775669754
CA2444106
1212 K>R No ClinGen
ExAC
gnomAD
CA2444105
rs770026172
1215 V>I No ClinGen
ExAC
gnomAD
TCGA novel 1216 F>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353159021
rs1575920780
1219 N>Y No ClinGen
Ensembl
CA74782038
rs79886237
1220 L>R No ClinGen
1000Genomes
TCGA novel 1222 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2444103
rs776585540
1223 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA2444102
rs771100470
1227 T>A No ClinGen
ExAC
gnomAD
CA2444101
rs746915869
1228 C>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1228 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1047080
COSM1047078
rs1311960562
CA353158435
COSM1047079
1231 G>R Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs763255409
CA2444087
1232 K>Q No ClinGen
ExAC
gnomAD
CA353152547
rs1559900408
1233 C>S No ClinGen
Ensembl
rs143617370
CA74772456
1234 A>T No ClinGen
ESP
gnomAD
CA353152456
rs1332979792
1236 L>M No ClinGen
gnomAD
CA74772454
rs868202591
1236 L>S No ClinGen
Ensembl
CA353152327
rs1389353528
1240 D>N No ClinGen
gnomAD
rs1257279713
CA353152285
1241 F>L No ClinGen
TOPMed
rs924732981
CA74772452
1242 L>P No ClinGen
TOPMed
rs775835528
CA2444086
1244 C>F No ClinGen
ExAC
gnomAD
rs765383171
CA2444085
1248 E>D No ClinGen
ExAC
gnomAD
CA353152113
rs1370836009
1249 I>V No ClinGen
gnomAD
rs1370720673
CA353151999
1250 P>L No ClinGen
gnomAD
rs1575655277
CA353151927
1252 N>D No ClinGen
Ensembl
TCGA novel 1252 N>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2444084
rs759740227
1253 D>A No ClinGen
ExAC
gnomAD
CA2444083
rs776977630
1254 I>V No ClinGen
ExAC
gnomAD
TCGA novel 1257 C>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353151604
rs1180718174
1260 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 1260 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2444082
rs560772391
1261 Y>C No ClinGen
1000Genomes
ExAC
gnomAD
rs982726266
CA74772437
1262 N>S No ClinGen
Ensembl
rs1266754347
CA353151429
1264 S>N No ClinGen
TOPMed
gnomAD
CA2444080
rs772970975
1265 D>N No ClinGen
ExAC
gnomAD
rs772163973
CA2444079
1268 M>I No ClinGen
ExAC
gnomAD
CA353151152
rs1409501820
1271 F>L No ClinGen
TOPMed
rs1239100370
CA353151122
1272 K>R No ClinGen
gnomAD
rs778866834
CA2444077
1274 L>S No ClinGen
ExAC
gnomAD
CA2444075
rs748892487
1276 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs149630630
CA2444076
1276 R>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755557896
CA2444073
1279 L>F No ClinGen
ExAC
gnomAD
CA2444071
rs778215010
1280 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs758918362
CA2444070
1281 A>P No ClinGen
ExAC
gnomAD
CA2444069
rs150890583
1282 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765581705
CA2444068
1283 V>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1283 V>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2444066
rs753982008
1284 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA74772359
rs376747486
1284 V>I No ClinGen
ESP
TOPMed
rs111483865
CA74772342
1285 D>G No ClinGen
Ensembl
VAR_064685 1287 E>Q found in a breast cancer cell line [UniProt] No UniProt
CA353150615
rs1212361524
1288 I>T No ClinGen
TOPMed
TCGA novel 1293 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353150174
rs1280677016
1295 I>T No ClinGen
gnomAD
rs767705285
CA2444043
1295 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs776550567
CA2444041
1297 P>A No ClinGen
ExAC
gnomAD
rs776550567
CA2444042
1297 P>S No ClinGen
ExAC
gnomAD
CA353150067
rs1340217547
1298 Q>L No ClinGen
gnomAD
CA353150008
rs1332685249
1300 E>K No ClinGen
gnomAD
rs1416373254
CA353149842
1305 L>P No ClinGen
gnomAD
rs948355658
CA74771862
1307 K>E No ClinGen
gnomAD
rs1464165958
CA353149754
1307 K>R No ClinGen
gnomAD
TCGA novel 1315 K>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2444038
rs146951964
1317 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs199643728
COSM1566688
COSM1566687
CA2444036
COSM1566686
1318 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1292028795
CA353149116
1321 G>S No ClinGen
TOPMed
CA353149085
rs1559891938
1322 G>R No ClinGen
Ensembl
TCGA novel 1322 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs933552056
CA74771822
1323 D>E No ClinGen
TOPMed
rs1461443682
CA353149041
1323 D>N No ClinGen
gnomAD
rs907961765
CA74771817
1325 D>G No ClinGen
gnomAD
CA353148831
rs1245694711
1327 E>A No ClinGen
TOPMed
rs545777783
CA2444034
1330 G>A No ClinGen
1000Genomes
ExAC
gnomAD
rs1250831550
CA353148596
1332 E>K No ClinGen
TOPMed
rs771196068
CA74771798
1332 E>V No ClinGen
Ensembl
TCGA novel 1337 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779348260
CA2444032
1337 I>T No ClinGen
ExAC
gnomAD
rs933331364
CA74771783
1337 I>V No ClinGen
gnomAD
rs1215663620
CA353148206
1339 P>A No ClinGen
TOPMed
gnomAD
TCGA novel 1339 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353148194
rs1356335816
1339 P>R No ClinGen
gnomAD
rs755510462
CA2444031
1340 P>A No ClinGen
ExAC
gnomAD
rs578206243
CA2444030
1340 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 1340 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs975052107
CA74771739
1341 S>P No ClinGen
Ensembl
rs780455849
CA2444029
1342 L>V No ClinGen
ExAC
CA353148106
rs1275568834
1343 P>H No ClinGen
TOPMed
CA2444027
rs750646675
1344 Q>L No ClinGen
ExAC
gnomAD
TCGA novel 1346 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767904372
CA353147968
1347 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs767904372
CA2444026
1347 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA353147993
rs1575642238
1347 T>P No ClinGen
Ensembl
rs767904372
CA353147972
1347 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA353147932
rs1171303700
1348 P>H No ClinGen
TOPMed
gnomAD
CA353147930
rs1171303700
1348 P>R No ClinGen
TOPMed
gnomAD
rs989942540
CA74771704
1348 P>S No ClinGen
TOPMed
CA2444023
rs763872667
1350 A>V No ClinGen
ExAC
TOPMed
CA2444022
rs762933159
1354 D>N No ClinGen
ExAC
gnomAD
rs775355986
CA2444021
1356 M>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1357 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2444020
rs369597128
1358 Y>C No ClinGen
ESP
ExAC
gnomAD
CA2444018
rs776212770
1359 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA353147391
rs1404713077
1360 P>A No ClinGen
TOPMed
TCGA novel 1360 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353147369
rs1232942838
1360 P>L No ClinGen
gnomAD
rs1404713077
CA353147400
1360 P>T No ClinGen
TOPMed
TCGA novel 1361 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353147343
rs1031849363
1361 P>L No ClinGen
TOPMed
gnomAD
CA74771662
rs1031849363
1361 P>Q No ClinGen
TOPMed
gnomAD
CA353147349
rs1220205958
1361 P>S No ClinGen
gnomAD
CA2444017
rs770598673
1362 Q>L No ClinGen
ExAC
gnomAD
rs1285350121
CA353145722
1363 S>A No ClinGen
TOPMed
gnomAD
rs1259783148
CA353145682
1365 P>A No ClinGen
gnomAD
CA353145664
rs1243758907
1366 K>Q No ClinGen
TOPMed
rs776411864
CA353145602
1367 S>A No ClinGen
ExAC
gnomAD
rs371730711
CA2443999
1367 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs776411864
CA2444000
1367 S>T No ClinGen
ExAC
gnomAD
rs1455184698
CA353145541
1368 A>V No ClinGen
gnomAD
rs1174894328
CA353145432
1370 G>D No ClinGen
gnomAD
rs1431131355
CA353145405
1371 S>C No ClinGen
gnomAD
TCGA novel 1376 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353145156
rs1199584083
1376 G>A No ClinGen
TOPMed
gnomAD
CA353145138
rs1199584083
1376 G>V No ClinGen
TOPMed
gnomAD
CA2443995
rs200783965
1377 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA2443996
rs200783965
1377 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA2443994
rs367999949
1381 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs554829380
CA2443992
1386 Y>* No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 1386 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2443991
rs781702167
1387 I>N No ClinGen
ExAC
rs1261731565
CA353144808
1388 L>V No ClinGen
gnomAD
rs1209675086
CA353144759
1390 S>I No ClinGen
gnomAD
TCGA novel 1391 S>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1310725440
CA353144654
1393 M>I No ClinGen
gnomAD
TCGA novel 1394 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2443990
rs771487360
1397 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA353144530
rs1575614506
1399 A>G No ClinGen
Ensembl
CA353144528
rs1575614506
1399 A>V No ClinGen
Ensembl
TCGA novel 1400 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1276256973
CA353144361
1407 G>R No ClinGen
gnomAD
rs111345980
CA74770663
1410 S>G No ClinGen
Ensembl
VAR_064686 1414 G>E found in a lung cancer cell line [UniProt] No UniProt
rs1314009029
CA353143917
1421 E>D No ClinGen
Ensembl
CA353143867
rs1362364948
1422 T>I No ClinGen
TOPMed
gnomAD
CA353143854
rs1302111374
1423 A>V No ClinGen
gnomAD
CA2443987
rs758454919
COSM125145
1430 E>K upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA353142044
rs1394076628
1431 R>Q No ClinGen
gnomAD
CA353141948
rs1293429170
1435 V>F No ClinGen
gnomAD
CA74764655
rs561610279
1441 R>S No ClinGen
TOPMed
gnomAD
rs1337009790
CA353141738
1443 R>* No ClinGen
gnomAD
CA353141724
rs1445647299
1443 R>Q No ClinGen
gnomAD
rs1575573284
CA353141530
1449 Q>H No ClinGen
Ensembl
CA353141461
rs1169202794
1451 S>C No ClinGen
gnomAD
rs1463927694
CA353141415
1453 S>T No ClinGen
gnomAD
rs1413760303
CA353141402
1453 S>Y No ClinGen
TOPMed
gnomAD
rs1364896872
CA353141351
1454 P>A No ClinGen
TOPMed
CA353141335
rs1353215997
1455 R>* No ClinGen
gnomAD
rs968064758
CA74764654
1455 R>Q No ClinGen
TOPMed
gnomAD
CA353141184
rs1319985402
1460 V>L No ClinGen
TOPMed
gnomAD
CA74764649
rs1022754387
1462 A>G No ClinGen
Ensembl
rs1443187477
CA353141135
1462 A>T No ClinGen
gnomAD
rs1046200702
CA74764647
1463 L>V No ClinGen
TOPMed
CA353140976
rs1575572432
1466 V>G No ClinGen
Ensembl
CA353140687
rs1184403991
1471 T>A No ClinGen
gnomAD
TCGA novel 1472 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1457533311
CA353140614
1473 M>V No ClinGen
TOPMed
gnomAD
CA74764644
rs1009486215
1476 L>F No ClinGen
Ensembl
rs1463000203
CA353140416
1477 N>S No ClinGen
gnomAD
CA74764642
rs1014343852
1478 Q>R No ClinGen
TOPMed
CA353140169
rs1242773031
1482 P>S No ClinGen
TOPMed
rs892381016
CA74764641
1484 A>T No ClinGen
Ensembl
CA2443972
rs771399361
1485 G>V No ClinGen
ExAC
gnomAD
rs747399046
CA2443971
1487 M>I No ClinGen
ExAC
gnomAD
rs778015952
CA2443970
1489 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA2443969
rs772183616
1491 P>L No ClinGen
ExAC
gnomAD
TCGA novel 1493 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2443967
rs778843055
1494 L>V No ClinGen
ExAC
gnomAD
rs755115410
CA2443966
1495 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA74763483
rs368586641
1500 P>T No ClinGen
Ensembl
rs780018691
CA353137961
1501 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA2443964
rs780018691
1501 V>G No ClinGen
ExAC
TOPMed
gnomAD
rs1184034549
CA353137935
1502 D>G No ClinGen
gnomAD
VAR_064687 1503 G>C found in a stomach cancer cell line [UniProt] No UniProt
rs534391770
CA2443962
1503 G>S No ClinGen
1000Genomes
ExAC
gnomAD
CA353137863
rs1220119933
1503 G>V No ClinGen
gnomAD
CA353137830
rs1417216069
1505 V>I No ClinGen
Ensembl
rs1575527612
CA353137721
1507 M>R No ClinGen
Ensembl
rs761386514
CA74763465
1509 S>G No ClinGen
ExAC
gnomAD
rs761386514
CA2443960
1509 S>R No ClinGen
ExAC
gnomAD
rs1575527424
CA353137565
1510 M>I No ClinGen
Ensembl
TCGA novel 1511 Q>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1006304898
CA74763458
1512 P>Q No ClinGen
Ensembl
CA353137382
rs201036766
1515 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201036766
CA2443959
1515 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA74763435
rs950807031
1517 G>E No ClinGen
gnomAD
rs1559827261 1518 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1026241998
CA74763427
1518 P>T No ClinGen
gnomAD
rs554813783
CA74763412
1519 P>L No ClinGen
gnomAD
rs1429210453
CA353137191
1520 P>S No ClinGen
TOPMed
rs762598795
CA2443957
1521 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA353137077
rs1234047813
1522 H>Q No ClinGen
TOPMed
CA353137123
rs1368022648
1522 H>R No ClinGen
gnomAD
rs1304065662
CA353137049
1523 L>F No ClinGen
TOPMed
gnomAD
COSM4150009
COSM4150010
rs777226267
CA2443956
1524 P>L ovary [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1377136421
CA353136876
1526 G>A No ClinGen
gnomAD
rs1377136421
CA353136884
1526 G>D No ClinGen
gnomAD
rs761034188
CA2443954
1526 G>R No ClinGen
ExAC
gnomAD
CA2443953
rs143564112
COSM1235550
1527 V>M haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA353136742
rs1201304205
1530 L>V No ClinGen
TOPMed
CA353136684
rs1269557269
1531 P>L No ClinGen
TOPMed
gnomAD
CA353136665
rs1445391511
1532 G>D No ClinGen
TOPMed
CA353136556
rs1248596646
1535 P>S No ClinGen
TOPMed
CA2443951
rs145488469
1536 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2443952
rs772543387
1536 P>S No ClinGen
ExAC
gnomAD
CA74761634
rs143661199
1538 V>M No ClinGen
ESP
rs1032546493
CA74761632
1540 N>K No ClinGen
TOPMed
gnomAD
CA353134443
rs1228651034
1543 V>A No ClinGen
gnomAD
rs767739463
CA2443935
1544 A>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1544 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2443934
COSM1692826
rs762288924
COSM1692825
COSM1692824
1544 A>V skin [Cosmic] No ClinGen
cosmic curated
ExAC
rs774508637
CA2443933
1546 M>V No ClinGen
ExAC
gnomAD
rs1406912189
CA353134310
1547 V>A No ClinGen
TOPMed
gnomAD
rs1454816622
CA353134330
1547 V>L No ClinGen
gnomAD
rs768897886
CA2443932
1549 T>A No ClinGen
ExAC
gnomAD
rs749299765
CA2443931
1550 P>L No ClinGen
ExAC
gnomAD
CA353134211
rs1425385514
1550 P>T No ClinGen
TOPMed
rs1383208960
CA353134124
1552 P>L No ClinGen
gnomAD
rs769978319
CA2443929
1553 G>C No ClinGen
ExAC
gnomAD
rs1237019614
CA353134102
1553 G>D No ClinGen
gnomAD
TCGA novel 1558 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
VAR_064688 1560 Q>H found in an endometrial cancer cell line [UniProt] No UniProt
TCGA novel 1560 Q>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778674241
CA2443900
1561 V>L No ClinGen
ExAC
gnomAD
rs778674241
CA2443901
1561 V>M No ClinGen
ExAC
gnomAD
TCGA novel 1562 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2443899
rs754399493
1564 L>F No ClinGen
ExAC
gnomAD
TCGA novel 1564 L>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2443898
COSM1732214
COSM1732215
COSM1732213
rs753421798
1566 P>L kidney [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA2443897
rs199944513
1567 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs757796273
CA2443896
1569 Q>P No ClinGen
ExAC
gnomAD
rs1559796714
CA353133230
1571 A>V No ClinGen
Ensembl
CA353133174
rs1371444327
1573 P>A No ClinGen
TOPMed
CA353133133
rs1559796529
1574 P>A No ClinGen
Ensembl
rs1559796469
CA353133098
1575 Y>H No ClinGen
Ensembl
CA2443894
rs764441740
1576 P>A No ClinGen
ExAC
gnomAD
CA2443892
rs200150658
1577 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765524945
CA2443891
1577 G>V No ClinGen
ExAC
gnomAD
rs1037568674
CA74761420
1578 P>S No ClinGen
TOPMed
CA353132959
rs1321286512
1579 H>N No ClinGen
gnomAD
rs767731304
CA2443889
1580 P>A No ClinGen
ExAC
gnomAD
CA2443888
rs770973480
1580 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA353132902
rs1361004473
1581 A>T No ClinGen
gnomAD
CA2443887
rs760685169
1582 G>E No ClinGen
ExAC
gnomAD
rs1433971214
CA353132870
1583 P>R No ClinGen
TOPMed
rs144852450
CA2443886
RCV000487857
1583 P>S No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs144852450
CA353132877
1583 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201088500
CA2443885
1584 P>H No ClinGen
ExAC
gnomAD
rs201088500
CA2443884
1584 P>R No ClinGen
ExAC
gnomAD
CA353132859
rs1345421279
1584 P>S No ClinGen
TOPMed
gnomAD
CA2443881
rs768360550
1590 T>A No ClinGen
ExAC
gnomAD
rs1327703585
CA353132653
1594 F>C No ClinGen
TOPMed
TCGA novel 1594 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201684321
CA2443879
1595 V>A No ClinGen
1000Genomes
ExAC
gnomAD
rs1486933581
CA353132620
1596 A>S No ClinGen
gnomAD
rs1242947239
CA353132614
1596 A>V No ClinGen
gnomAD
rs1338391321
CA353132597
1597 P>T No ClinGen
gnomAD
rs1203327562
CA353132469
1602 Q>R No ClinGen
gnomAD
CA2443878
rs563717316
1603 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 1605 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1607 S>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1608 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778303337
CA2443876
1612 K>R No ClinGen
ExAC
gnomAD
VAR_064689 1614 I>N found in a case of clear cell renal carcinoma; somatic mutation [UniProt] No UniProt
TCGA novel 1618 S>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
RCV000121775
rs142726131
CA161382
1619 A>V No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1027009830
CA74761318
1621 S>P No ClinGen
gnomAD
rs995580383
CA74761317
1623 S>N No ClinGen
Ensembl
CA353131866
rs1362157547
1624 I>V No ClinGen
gnomAD
CA353131671
rs1575460572
1628 D>G No ClinGen
Ensembl
rs1335652201
CA353131680
1628 D>Y No ClinGen
gnomAD
rs1450064934
CA353131664
1629 Q>* No ClinGen
gnomAD
CA2443874
rs765315890
1631 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA353131582
rs1466953081
1632 A>S No ClinGen
gnomAD
rs1373014199
CA353131564
1633 A>T No ClinGen
gnomAD
CA2443856
rs375268569
1634 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1163354335
CA353130696
1636 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs879167521
CA74759660
1636 R>H No ClinGen
TOPMed
gnomAD
RCV000121776
CA161384
rs201397730
1637 D>N No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs779331178
CA2443854
1638 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1178877286
CA353130591
1639 H>R No ClinGen
gnomAD
rs907606869
CA74759616
1640 L>F No ClinGen
Ensembl
rs1307117980
CA353130548
1641 S>L No ClinGen
TOPMed
TCGA novel 1644 Q>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353130448
rs1224208524
1644 Q>R No ClinGen
TOPMed
CA353130369
rs1219982536
1646 S>N No ClinGen
TOPMed
gnomAD
CA2443851
VAR_064690
rs200020801
1647 R>C found in a breast cancer cell line [UniProt] No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA2443850
rs376146705
1647 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA353130168
rs1351647250
1651 H>Q No ClinGen
gnomAD
CA74759590
rs1013158855
1651 H>R No ClinGen
TOPMed
rs761798603
CA2443847
1654 K>R No ClinGen
ExAC
CA74759576
rs977027732
1655 S>T No ClinGen
Ensembl
rs1457817627
CA353129999
1656 K>R No ClinGen
TOPMed
rs1302879949
CA353129979
1657 G>R No ClinGen
gnomAD
rs964321410
CA74759575
1659 H>D No ClinGen
Ensembl
CA353129920
rs1423149207
1660 T>N No ClinGen
gnomAD
CA353129918
rs1423149207
1660 T>S No ClinGen
gnomAD
rs1575421603
CA353129754
1666 L>F No ClinGen
Ensembl
rs1436814738
CA353129706
1668 R>C No ClinGen
gnomAD
rs1367900513
CA353129700
1668 R>H No ClinGen
gnomAD
CA353129634
rs1164015194
1670 R>* No ClinGen
gnomAD
CA353129608
rs1413674197
1671 D>N No ClinGen
TOPMed
rs200304933
CA74759567
1675 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
TOPMed
gnomAD
rs763922587
CA2443845
1677 T>A No ClinGen
ExAC
gnomAD
rs781198711
CA74759549
1679 N>S No ClinGen
TOPMed
rs775162970
CA2443843
1681 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA74759523
rs775162970
1681 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA2443842
rs371624499
1681 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs761719532
CA74759503
1682 Q>* No ClinGen
ExAC
gnomAD
rs761719532
CA2443841
1682 Q>K No ClinGen
ExAC
gnomAD
CA2443840
rs776101324
1684 Y>D No ClinGen
ExAC
TOPMed
gnomAD
rs770490657
CA2443839
1685 N>H No ClinGen
ExAC
CA353128978
rs1348114882
1685 N>K No ClinGen
gnomAD
TCGA novel 1687 E>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

1 associated diseases with Q86U86

[MIM: 144700]: Renal cell carcinoma (RCC)

Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Clear cell renal cell carcinoma is the most common subtype. {ECO:0000269|PubMed:21248752}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Clear cell renal cell carcinoma is the most common subtype. {ECO:0000269|PubMed:21248752}. Note=The disease is caused by variants affecting the gene represented in this entry.

15 regional properties for Q86U86

Type Name Position InterPro Accession
domain Bromo adjacent homology (BAH) domain 956 - 1074 IPR001025-1
domain Bromo adjacent homology (BAH) domain 1156 - 1272 IPR001025-2
domain Bromodomain 43 - 153 IPR001487-1
domain Bromodomain 175 - 289 IPR001487-2
domain Bromodomain 379 - 489 IPR001487-3
domain Bromodomain 516 - 627 IPR001487-4
domain Bromodomain 651 - 765 IPR001487-5
domain Bromodomain 775 - 881 IPR001487-6
domain High mobility group box domain 1378 - 1448 IPR009071
conserved_site Bromodomain, conserved site 72 - 126 IPR018359-1
conserved_site Bromodomain, conserved site 205 - 262 IPR018359-2
conserved_site Bromodomain, conserved site 405 - 462 IPR018359-3
conserved_site Bromodomain, conserved site 548 - 600 IPR018359-4
conserved_site Bromodomain, conserved site 681 - 738 IPR018359-5
domain Protein polybromo-1, Bromodomain 5 658 - 762 IPR037968

Functions

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

7 GO annotations of cellular component

Name Definition
chromatin The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
kinetochore A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules.
nuclear chromosome A chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact.
nuclear matrix The dense fibrillar network lying on the inner side of the nuclear membrane.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
RSC-type complex A SWI/SNF-type complex that contains a bromodomain containing-protein, such as yeast Rsc1 or Rsc4 or mammalian PB1/BAF180. The RSC complex is generally recruited to RNA polymerase III promoters and is specifically recruited to RNA polymerase II promoters by transcriptional activators and repressors; it is also involved in non-homologous end joining.
SWI/SNF complex A SWI/SNF-type complex that contains 8 to 14 proteins, including both conserved (core) and nonconserved components; contains the ATPase product of the yeast SNF2 or mammalian SMARCA4/BAF190A/BRG1 gene, or an ortholog thereof.

2 GO annotations of molecular function

Name Definition
chromatin binding Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).

12 GO annotations of biological process

Name Definition
chromatin remodeling A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication.
mitotic cell cycle Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent.
negative regulation of cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation.
positive regulation of cell differentiation Any process that activates or increases the frequency, rate or extent of cell differentiation.
positive regulation of double-strand break repair Any process that activates or increases the frequency, rate or extent of double-strand break repair.
positive regulation of myoblast differentiation Any process that activates or increases the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers.
positive regulation of T cell differentiation Any process that activates or increases the frequency, rate or extent of T cell differentiation.
regulation of G0 to G1 transition A cell cycle process that modulates the rate or extent of the transition from the G0 quiescent state to the G1 phase.
regulation of G1/S transition of mitotic cell cycle Any signalling pathway that modulates the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the mitotic cell cycle.
regulation of mitotic metaphase/anaphase transition Any process that modulates the frequency, rate or extent of the cell cycle process in which a cell progresses from metaphase to anaphase during mitosis, triggered by the activation of the anaphase promoting complex by Cdc20/Sleepy homolog which results in the degradation of Securin.
regulation of nucleotide-excision repair Any process that modulates the frequency, rate or extent of nucleotide-excision repair.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q8BSQ9 Pbrm1 Protein polybromo-1 Mus musculus (Mouse) PR
10 20 30 40 50 60
MGSKRRRATS PSSSVSGDFD DGHHSVSTPG PSRKRRRLSN LPTVDPIAVC HELYNTIRDY
70 80 90 100 110 120
KDEQGRLLCE LFIRAPKRRN QPDYYEVVSQ PIDLMKIQQK LKMEEYDDVN LLTADFQLLF
130 140 150 160 170 180
NNAKSYYKPD SPEYKAACKL WDLYLRTRNE FVQKGEADDE DDDEDGQDNQ GTVTEGSSPA
190 200 210 220 230 240
YLKEILEQLL EAIVVATNPS GRLISELFQK LPSKVQYPDY YAIIKEPIDL KTIAQRIQNG
250 260 270 280 290 300
SYKSIHAMAK DIDLLAKNAK TYNEPGSQVF KDANSIKKIF YMKKAEIEHH EMAKSSLRMR
310 320 330 340 350 360
TPSNLAAARL TGPSHSKGSL GEERNPTSKY YRNKRAVQGG RLSAITMALQ YGSESEEDAA
370 380 390 400 410 420
LAAARYEEGE SEAESITSFM DVSNPFYQLY DTVRSCRNNQ GQLIAEPFYH LPSKKKYPDY
430 440 450 460 470 480
YQQIKMPISL QQIRTKLKNQ EYETLDHLEC DLNLMFENAK RYNVPNSAIY KRVLKLQQVM
490 500 510 520 530 540
QAKKKELARR DDIEDGDSMI SSATSDTGSA KRKSKKNIRK QRMKILFNVV LEAREPGSGR
550 560 570 580 590 600
RLCDLFMVKP SKKDYPDYYK IILEPMDLKI IEHNIRNDKY AGEEGMIEDM KLMFRNARHY
610 620 630 640 650 660
NEEGSQVYND AHILEKLLKE KRKELGPLPD DDDMASPKLK LSRKSGISPK KSKYMTPMQQ
670 680 690 700 710 720
KLNEVYEAVK NYTDKRGRRL SAIFLRLPSR SELPDYYLTI KKPMDMEKIR SHMMANKYQD
730 740 750 760 770 780
IDSMVEDFVM MFNNACTYNE PESLIYKDAL VLHKVLLETR RDLEGDEDSH VPNVTLLIQE
790 800 810 820 830 840
LIHNLFVSVM SHQDDEGRCY SDSLAEIPAV DPNFPNKPPL TFDIIRKNVE NNRYRRLDLF
850 860 870 880 890 900
QEHMFEVLER ARRMNRTDSE IYEDAVELQQ FFIKIRDELC KNGEILLSPA LSYTTKHLHN
910 920 930 940 950 960
DVEKERKEKL PKEIEEDKLK REEEKREAEK SEDSSGAAGL SGLHRTYSQD CSFKNSMYHV
970 980 990 1000 1010 1020
GDYVYVEPAE ANLQPHIVCI ERLWEDSAGE KWLYGCWFYR PNETFHLATR KFLEKEVFKS
1030 1040 1050 1060 1070 1080
DYYNKVPVSK ILGKCVVMFV KEYFKLCPEN FRDEDVFVCE SRYSAKTKSF KKIKLWTMPI
1090 1100 1110 1120 1130 1140
SSVRFVPRDV PLPVVRVASV FANADKGDDE KNTDNSEDSR AEDNFNLEKE KEDVPVEMSN
1150 1160 1170 1180 1190 1200
GEPGCHYFEQ LHYNDMWLKV GDCVFIKSHG LVRPRVGRIE KVWVRDGAAY FYGPIFIHPE
1210 1220 1230 1240 1250 1260
ETEHEPTKMF YKKEVFLSNL EETCPMTCIL GKCAVLSFKD FLSCRPTEIP ENDILLCESR
1270 1280 1290 1300 1310 1320
YNESDKQMKK FKGLKRFSLS AKVVDDEIYY FRKPIVPQKE PSPLLEKKIQ LLEAKFAELE
1330 1340 1350 1360 1370 1380
GGDDDIEEMG EEDSEVIEPP SLPQLQTPLA SELDLMPYTP PQSTPKSAKG SAKKEGSKRK
1390 1400 1410 1420 1430 1440
INMSGYILFS SEMRAVIKAQ HPDYSFGELS RLVGTEWRNL ETAKKAEYEE RAAKVAEQQE
1450 1460 1470 1480 1490 1500
RERAAQQQQP SASPRAGTPV GALMGVVPPP TPMGMLNQQL TPVAGMMGGY PPGLPPLQGP
1510 1520 1530 1540 1550 1560
VDGLVSMGSM QPLHPGGPPP HHLPPGVPGL PGIPPPGVMN QGVAPMVGTP APGGSPYGQQ
1570 1580 1590 1600 1610 1620
VGVLGPPGQQ APPPYPGPHP AGPPVIQQPT TPMFVAPPPK TQRLLHSEAY LKYIEGLSAE
1630 1640 1650 1660 1670 1680
SNSISKWDQT LAARRRDVHL SKEQESRLPS HWLKSKGAHT TMADALWRLR DLMLRDTLNI
RQAYNLENV