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 Q9H8Y1

Entry ID Method Resolution Chain Position Source
AF-Q9H8Y1-F1 Predicted AlphaFoldDB

563 variants for Q9H8Y1

Variant ID(s) Position Change Description Diseaes Association Provenance
CA390390231
rs1199386333
2 T>A No ClinGen
TOPMed
TCGA novel 3 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7267413
COSM1246458
rs763553657
4 R>Q oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs765470705
CA7267411
4 R>W No ClinGen
ExAC
gnomAD
rs886437960
CA263607556
6 Q>K No ClinGen
Ensembl
rs1171941315
CA390390255
6 Q>R No ClinGen
gnomAD
CA390390270
rs1354651888
9 Q>K No ClinGen
gnomAD
rs751973452
COSM353867
CA7267415
9 Q>R lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA390390279
rs1227520926
10 K>Q No ClinGen
TOPMed
CA7267416
rs571012419
12 L>V No ClinGen
1000Genomes
ExAC
TCGA novel 15 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs988311200
CA263607581
18 A>V No ClinGen
TOPMed
CA263607584
rs1034954484
19 V>A No ClinGen
Ensembl
rs982398457
CA390390447
CA263607613
22 E>D No ClinGen
TOPMed
gnomAD
COSM195966
CA7267418
rs753558328
22 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754476115
CA7267419
23 G>R No ClinGen
ExAC
gnomAD
rs1473083765
CA390390462
24 L>M No ClinGen
gnomAD
CA7267420
rs778446215
26 G>A No ClinGen
ExAC
gnomAD
rs748049890
CA7267422
28 I>L No ClinGen
ExAC
gnomAD
rs772079661
CA7267423
28 I>T No ClinGen
ExAC
gnomAD
rs1194050283
CA390390531
29 G>V No ClinGen
gnomAD
CA390390574
rs1247140896
34 A>T No ClinGen
gnomAD
CA390390608
COSM957750
rs1187950254
36 Q>* Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA390390607
rs1187950254
36 Q>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1405107284
CA390390619
37 V>I No ClinGen
TOPMed
CA390390640
rs1165387019
39 S>T No ClinGen
TOPMed
CA390390665
COSM226749
rs1419774996
40 S>F skin [Cosmic] No ClinGen
cosmic curated
gnomAD
CA390390691
rs1404316966
42 T>I No ClinGen
gnomAD
CA390390683
rs1595176961
42 T>P No ClinGen
Ensembl
rs1162014095
CA390390699
43 L>F No ClinGen
TOPMed
gnomAD
CA7267425
rs746835058
45 T>N No ClinGen
ExAC
gnomAD
CA390390722
rs1595176972
45 T>P No ClinGen
Ensembl
rs373017198
CA7267426
46 C>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147816392
CA7267428
47 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7267427
rs776979184
47 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA390390757
rs1271056964
48 E>Q No ClinGen
gnomAD
CA263607712
rs1030661296
52 G>D No ClinGen
TOPMed
gnomAD
VAR_050876
rs2232032
CA7267430
53 L>F No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs764672768
CA7267432
54 Q>P No ClinGen
ExAC
gnomAD
CA390390842
rs764672768
54 Q>R No ClinGen
ExAC
gnomAD
CA7267433
rs370361590
60 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390390901
rs1217674799
61 V>A No ClinGen
gnomAD
TCGA novel 66 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs140246685
CA7267437
68 E>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs45593432
CA7267441
72 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs377562420
CA7267439
COSM3744442
72 R>W liver [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs370853577
CA7267442
73 N>K No ClinGen
ESP
ExAC
gnomAD
rs757052817
CA7267443
75 L>M No ClinGen
ExAC
gnomAD
CA390391006
rs1595177055
78 V>G No ClinGen
Ensembl
CA7267446
rs770161056
80 K>N No ClinGen
ExAC
gnomAD
rs749387453
CA390391068
88 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs749387453
CA7267448
88 E>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM270796
rs1208336612
CA390391079
89 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA390391093
rs1485749306
91 S>R No ClinGen
gnomAD
CA7267451
rs762279805
95 W>C No ClinGen
ExAC
rs1190713210
CA390391127
96 G>V No ClinGen
TOPMed
rs140827396
CA7267453
98 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1159539715
CA390391144
99 G>D No ClinGen
gnomAD
rs759141129
CA7267454
100 L>F No ClinGen
ExAC
gnomAD
rs1214158859
CA390391156
101 S>T No ClinGen
TOPMed
rs1409294002
CA615192906
103 E>RQWQ* No ClinGen
gnomAD
CA7267458
rs763560388
105 R>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM116592
CA7267457
rs150151126
105 R>W ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
gnomAD
CA390391186
rs1286607559
106 A>V No ClinGen
TOPMed
TCGA novel 107 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751482439
CA7267459
107 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA7267461
rs781084362
109 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7267462
rs745668573
110 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1348079891
CA390391226
113 L>V No ClinGen
gnomAD
rs1219309989
CA390391254
117 H>R No ClinGen
TOPMed
CA390391262
rs1203836310
118 Y>C No ClinGen
gnomAD
TCGA novel 118 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7267464
rs562451832
121 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
CA263607959
rs535578501
123 M>T No ClinGen
Ensembl
CA390391294
rs1282551884
123 M>V No ClinGen
TOPMed
gnomAD
CA263607962
rs538076750
124 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs903691261
CA263607976
125 D>E No ClinGen
Ensembl
rs866842756
CA390391307
125 D>N No ClinGen
gnomAD
rs866842756
CA263607972
125 D>Y No ClinGen
gnomAD
CA390391316
rs1195889294
126 S>Y No ClinGen
gnomAD
rs778904465
CA7267467
127 K>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 129 M>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1429321702
CA390391346
131 Q>K No ClinGen
gnomAD
rs575884992
CA7267468
132 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs773509797
CA7267471
133 V>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7267470
COSM32986
rs773509797
VAR_035677
133 V>M large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt] No ClinGen
cosmic curated
UniProt
ExAC
dbSNP
gnomAD
CA390391365
rs1330449009
134 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs138257884
CA7267472
134 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs138257884
CA390391366
134 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA390391411
rs1249211220
141 E>Q No ClinGen
TOPMed
gnomAD
rs547847712
CA7267475
143 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs973410485
CA263608054
146 T>A No ClinGen
TOPMed
CA390391466
rs763619284
149 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA7267476
rs763619284
149 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA263608068
rs769418190
150 P>A No ClinGen
TOPMed
gnomAD
rs1195617582
CA390391473
150 P>L No ClinGen
TOPMed
CA390391471
rs769418190
150 P>S No ClinGen
TOPMed
gnomAD
CA390391477
rs1449198437
151 A>D No ClinGen
gnomAD
TCGA novel 151 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7267478
rs143867872
COSM1371049
151 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1191327811
CA390391485
152 T>M Variant assessed as Somatic; 4.69e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7267482
rs779766385
158 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1325177788
CA390391530
159 A>V No ClinGen
gnomAD
TCGA novel 160 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA390391533
rs1327794964
160 D>N No ClinGen
gnomAD
CA263608147
rs201868876
161 V>I No ClinGen
1000Genomes
gnomAD
CA263608149
rs201868876
161 V>L No ClinGen
1000Genomes
gnomAD
CA390391570
rs1279159795
165 C>F No ClinGen
TOPMed
rs199548722
CA7267489
173 V>M No ClinGen
ESP
ExAC
gnomAD
CA263608163
rs907971987
176 L>F No ClinGen
TOPMed
gnomAD
CA7267490
rs771252910
178 A>G No ClinGen
ExAC
gnomAD
rs776888820
CA7267491
180 A>T No ClinGen
ExAC
gnomAD
CA263608186
rs374842751
180 A>V No ClinGen
ESP
rs1264201413
CA390391688
183 L>I No ClinGen
gnomAD
CA7267493
rs768205903
185 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA263608207
rs762560330
185 R>W No ClinGen
TOPMed
gnomAD
CA390391726
rs1421897836
188 Y>* No ClinGen
TOPMed
TCGA novel 190 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA390391761
rs1476200828
193 M>I No ClinGen
gnomAD
CA390391759
rs1305818439
193 M>T No ClinGen
gnomAD
rs570368510
CA7267495
194 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA390391766
COSM243296
rs1197460141
194 R>H large_intestine Variant assessed as Somatic; impact. prostate [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1418404864
CA390391779
196 L>F No ClinGen
gnomAD
CA390391809
rs1386745448
201 Y>N No ClinGen
gnomAD
rs1259650642
CA390391822
202 F>C No ClinGen
TOPMed
TCGA novel 203 N>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1382404427
CA390391849
204 R>H No ClinGen
gnomAD
TCGA novel 209 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1595177318
CA390392444
209 R>G No ClinGen
Ensembl
CA7267497
rs750360655
209 R>H No ClinGen
ExAC
gnomAD
CA7267498
rs760738333
COSM957754
210 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA7267499
rs766160257
210 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA263608258
rs1043625574
211 C>R No ClinGen
Ensembl
rs999328448
CA263608262
212 D>N No ClinGen
gnomAD
TCGA novel 214 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7267502
rs199599167
214 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142400429
CA7267503
215 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7267504
rs758461512
216 S>T No ClinGen
ExAC
gnomAD
rs372405051
CA7267505
216 S>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs747473407
CA7267506
217 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA7267508
rs781561403
218 L>Q No ClinGen
ExAC
gnomAD
rs1165251122
CA390392518
221 M>I No ClinGen
TOPMed
rs770256532
CA7267510
222 W>C No ClinGen
ExAC
gnomAD
CA7267511
rs774129370
224 G>A No ClinGen
ExAC
rs771679789
CA7267514
225 Q>H No ClinGen
ExAC
rs747849870
CA7267513
225 Q>P No ClinGen
ExAC
CA7267516
rs199666880
227 L>P No ClinGen
ExAC
gnomAD
rs74501737
CA7267517
228 T>P No ClinGen
ExAC
gnomAD
rs150867891
CA7267519
229 S>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759246646
CA7267520
229 S>R No ClinGen
ExAC
gnomAD
rs150867891
CA7267518
229 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368605031
CA7267522
230 H>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7267521
rs765140578
230 H>Y No ClinGen
ExAC
gnomAD
CA390392656
rs1350307582
233 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs533694091
CA7267523
233 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs751651837
CA7267525
234 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1595177394
CA390392680
235 Q>* No ClinGen
Ensembl
rs1252504859
CA390392732
238 A>V No ClinGen
gnomAD
rs200831399
CA263608393
239 P>L No ClinGen
1000Genomes
TCGA novel 239 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA390392771
rs1192765624
241 V>A No ClinGen
gnomAD
CA263608415
rs1042290837
246 V>G No ClinGen
Ensembl
CA390392845
rs1195299114
247 E>A No ClinGen
gnomAD
CA390392846
rs1195299114
247 E>G No ClinGen
gnomAD
rs746440725
CA7267528
249 E>A No ClinGen
ExAC
gnomAD
TCGA novel 250 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA390392890
rs1222778173
250 G>V No ClinGen
TOPMed
rs61730671
CA390392919
253 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7267529
rs61730671
253 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA390392933
rs1300424292
254 V>E No ClinGen
gnomAD
rs1027923829
CA263608435
254 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1374688101
CA390392938
255 A>T No ClinGen
gnomAD
rs1239514353
CA390392957
256 P>L No ClinGen
TOPMed
rs747766241
CA7267531
256 P>T No ClinGen
ExAC
gnomAD
CA7267532
rs771875907
257 A>V No ClinGen
ExAC
gnomAD
rs1555412257
CA390392973
258 L>P No ClinGen
Ensembl
CA263608453
rs865849195
259 P>L No ClinGen
TOPMed
gnomAD
rs1385260494
CA390392988
261 L>P No ClinGen
TOPMed
TCGA novel 262 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs950785667
CA263608455
262 A>V No ClinGen
TOPMed
rs1206627069
CA390393001
263 P>L No ClinGen
gnomAD
CA7267533
rs772795824
264 L>H No ClinGen
ExAC
gnomAD
rs770542499
CA7267535
266 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs370526530
CA7267537
267 P>L No ClinGen
ExAC
gnomAD
rs763101128
CA390393065
270 T>P No ClinGen
ExAC
gnomAD
rs763101128
CA7267540
270 T>S No ClinGen
ExAC
gnomAD
CA7267543
rs140227220
273 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7267544
rs767681299
274 L>F No ClinGen
ExAC
gnomAD
rs377542755
CA7267545
276 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA263608506
rs960854117
COSM1198058
276 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA7267546
rs756678651
277 E>K No ClinGen
ExAC
gnomAD
CA7267547
rs780520228
278 P>R No ClinGen
ExAC
gnomAD
rs1439113206
CA390393153
278 P>T No ClinGen
gnomAD
CA390393167
rs1334206264
279 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs74977651
CA7267549
280 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA390393174
rs74977651
280 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1331864315
CA390393222
285 L>F No ClinGen
gnomAD
CA7267552
rs746733172
286 C>G No ClinGen
ExAC
TOPMed
rs932583513
CA263608550
287 E>K No ClinGen
TOPMed
gnomAD
COSM3401463
CA7267553
rs200794001
288 R>C central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA263608582
rs914876377
288 R>H No ClinGen
TOPMed
CA7267555
rs767258652
290 S>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM39619
rs769734289
CA7267556
291 V>I large_intestine central_nervous_system Variant assessed as Somatic; 9.27e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7267557
rs775199275
292 T>N No ClinGen
ExAC
gnomAD
CA7267558
rs202159424
293 K>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA7267560
rs774410266
295 T>N No ClinGen
ExAC
gnomAD
CA390393319
rs1595177548
295 T>P No ClinGen
Ensembl
rs1302297854
CA390393333
296 F>I No ClinGen
TOPMed
rs145081542
CA7267561
298 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7267562
rs767452960
COSM1371051
298 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA263608599
rs767452960
298 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA263608602
rs558026399
300 R>Q No ClinGen
TOPMed
gnomAD
CA7267563
rs750541993
300 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs867079054
CA263608609
301 R>Q No ClinGen
Ensembl
CA7267564
rs761032690
301 R>W No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel
rs1595177575
CA390393377
302 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
CA390393379
rs1595177576
302 Q>P No ClinGen
Ensembl
rs1595177577
CA390393386
303 S>A No ClinGen
Ensembl
CA7267565
rs767002282
303 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA7267568
rs779468955
307 R>Q No ClinGen
ExAC
gnomAD
rs755382202
CA7267567
307 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA7267570
rs143185421
309 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1595177600
CA390393436
310 V>G No ClinGen
Ensembl
CA390393437
rs1283256009
311 A>T No ClinGen
TOPMed
gnomAD
rs943847589
CA263608671
312 A>S No ClinGen
Ensembl
rs375095214
CA7267572
313 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769359623
CA7267573
313 R>H No ClinGen
ExAC
gnomAD
rs779953147
CA7267574
314 F>S No ClinGen
ExAC
TOPMed
gnomAD
rs888061162
CA263608718
316 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA7267577
rs148239079
317 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 322 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA263608750
rs966094689
324 F>I No ClinGen
TOPMed
CA7267580
rs773103503
325 H>N No ClinGen
ExAC
TOPMed
gnomAD
COSM3983693
rs760836818
CA7267582
325 H>Q ovary [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs201579420
CA390393551
326 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7267585
rs201579420
326 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs533419765
CA7267584
COSM1371052
326 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1278832851
CA390393553
327 G>R No ClinGen
TOPMed
gnomAD
CA390393554
rs1278832851
327 G>W No ClinGen
TOPMed
gnomAD
rs961161826
CA263608793
328 G>C No ClinGen
gnomAD
CA390393558
rs961161826
328 G>S No ClinGen
gnomAD
rs756792465
CA7267588
328 G>V No ClinGen
ExAC
gnomAD
CA263608827
rs1024151316
329 V>I No ClinGen
TOPMed
gnomAD
rs749358571 329 V>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1205686285
CA390393577
330 V>A No ClinGen
TOPMed
rs755595228
CA7267591
330 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA390393582
rs1442449269
331 P>S No ClinGen
gnomAD
CA390393614
rs1257721929
334 Q>H No ClinGen
TOPMed
rs1042061492
CA390393611
334 Q>P No ClinGen
TOPMed
gnomAD
rs1042061492
CA263608855
334 Q>R No ClinGen
TOPMed
gnomAD
rs1179641252
CA390393651
338 R>P No ClinGen
gnomAD
rs1179641252
CA390393650
338 R>Q No ClinGen
gnomAD
rs529639741
CA7267593
338 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200460606
CA7267594
339 F>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1175716420
CA390393671
340 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1433059799
CA390393667
340 P>S No ClinGen
gnomAD
CA7267596
rs747982092
342 I>T No ClinGen
ExAC
gnomAD
CA390393685
rs1282342222
342 I>V No ClinGen
TOPMed
rs1352681808
CA390393699
343 S>C No ClinGen
gnomAD
rs1352681808
CA390393698
343 S>F No ClinGen
gnomAD
rs368643849
CA7267597
COSM433351
344 R>C Variant assessed as Somatic; 4.733e-05 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7267598
rs147057914
344 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs147057914
CA390393704
344 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA263608899
rs368643849
344 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7267599
rs527290121
346 T>P No ClinGen
1000Genomes
ExAC
gnomAD
rs1345119866
CA390393788
352 H>R No ClinGen
gnomAD
rs1399061828
CA390393817
355 L>R No ClinGen
TOPMed
CA390393825
rs1252798871
356 G>A No ClinGen
gnomAD
CA390393826
rs1252798871
356 G>V No ClinGen
gnomAD
CA7267603
rs760073981
357 S>C No ClinGen
ExAC
gnomAD
rs1378355642
CA390393842
358 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs765776854
CA7267605
359 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA390393852
rs765776854
359 T>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 359 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1399016686
CA390393856
360 C>R No ClinGen
TOPMed
rs775926527
CA7267606
361 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1567047106
CA390393878
362 A>S No ClinGen
Ensembl
rs371184815
CA7267609
363 L>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765823098
CA7267611
364 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA7267610
rs757348014
364 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs754846456
CA7267613
365 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA390393913
rs1252183824
366 R>G No ClinGen
TOPMed
gnomAD
CA7267616
rs373841898
367 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7267618
rs747196358
369 L>P No ClinGen
ExAC
gnomAD
CA390393957
rs1273040126
370 G>D No ClinGen
gnomAD
CA390393952
rs1237324052
370 G>S No ClinGen
TOPMed
CA263609128
rs200129816
371 M>T No ClinGen
Ensembl
rs1279647371
CA390393963
371 M>V No ClinGen
TOPMed
CA7267620
rs771303320
372 E>G No ClinGen
ExAC
gnomAD
CA7267621
rs570547691
373 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs371810735
CA263609162
375 E>K No ClinGen
ESP
CA7267624
rs776042484
378 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA390394039
rs1417079037
379 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs764475497
CA7267626
380 E>D No ClinGen
ExAC
gnomAD
rs1474503251
CA390394049
380 E>Q No ClinGen
TOPMed
gnomAD
rs1595177822
CA390394066
382 V>G No ClinGen
Ensembl
rs1039517649
CA390394076
384 E>G No ClinGen
gnomAD
CA7267627
rs774716970
384 E>K No ClinGen
ExAC
gnomAD
rs1039517649
CA263609201
384 E>V No ClinGen
gnomAD
rs868313678
CA263609223
386 E>K No ClinGen
Ensembl
rs868313678
CA263609237
386 E>Q No ClinGen
Ensembl
CA390394109
rs1167451395
389 C>G No ClinGen
gnomAD
CA7267630
rs753556589
COSM957756
391 A>T endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs886768642
CA263609263
392 L>P No ClinGen
Ensembl
rs138416499
CA7267632
393 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1595177859
CA390394139
394 V>G No ClinGen
Ensembl
CA263609286
rs878959476
394 V>L No ClinGen
Ensembl
rs746322979
CA7267634
395 S>L No ClinGen
ExAC
gnomAD
rs953877903
CA263609294
397 P>A No ClinGen
TOPMed
gnomAD
CA390394172
rs1490462592
399 M>I No ClinGen
TOPMed
CA7267636
rs751415809
401 L>V No ClinGen
ExAC
gnomAD
rs1214290669
CA390394198
403 Q>E No ClinGen
TOPMed
rs781550538
CA7267638
404 R>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM270543
rs757183895
CA7267637
404 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs866319871
CA263609319
405 A>T No ClinGen
Ensembl
CA390394238
rs1256782062
406 K>R No ClinGen
gnomAD
CA390394248
rs1474167650
407 L>V No ClinGen
gnomAD
CA7267639
rs746141216
410 E>K No ClinGen
ExAC
gnomAD
CA7267640
rs769886367
411 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA263609329
rs111440505
412 C>Y No ClinGen
Ensembl
CA7267641
rs138726657
414 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390394376
rs1419838940
416 N>K No ClinGen
gnomAD
TCGA novel 417 T>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA390394401
rs1397874676
419 V>L No ClinGen
gnomAD
rs1398336250
CA390394412
420 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs762164505
CA7267645
422 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1335555655
CA390394437
422 R>H No ClinGen
TOPMed
gnomAD
rs772486483
CA7267646
423 C>S No ClinGen
ExAC
TOPMed
gnomAD
rs772486483
CA390394449
423 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA7267647
rs776247481
425 K>R No ClinGen
ExAC
gnomAD
rs1354661608
CA390394491
COSM3420032
426 R>C Variant assessed as Somatic; 0.0 impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs370072741
CA7267648
426 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs867197840
CA263609352
430 G>S No ClinGen
Ensembl
TCGA novel 432 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752172506
CA7267650
433 R>Q No ClinGen
ExAC
gnomAD
CA390394570
rs1486667961
433 R>W No ClinGen
gnomAD
CA390394591
rs1423284744
435 T>A No ClinGen
TOPMed
CA7267651
rs762892356
435 T>I No ClinGen
ExAC
gnomAD
rs751604156
CA7267653
440 R>Q No ClinGen
ExAC
gnomAD
CA390394657
COSM433352
rs1179379863
440 R>W ovary Variant assessed as Somatic; 0.0 impact. breast [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA7267655
rs373225215
441 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373225215
CA7267654
441 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390394669
rs1487894598
442 K>E No ClinGen
TOPMed
CA7267656
rs750613772
442 K>R No ClinGen
ExAC
gnomAD
CA7267658
rs780120752
445 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7267657
rs201500773
445 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA263609444
rs768793398
CA7267660
447 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs1595177966
CA390394735
447 N>T No ClinGen
Ensembl
CA7267662
rs779382753
449 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA7267661
rs779382753
449 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs772399043
CA7267663
450 F>S No ClinGen
ExAC
TOPMed
gnomAD
CA7267666
rs376656566
452 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390394817
rs1595177987
453 A>S No ClinGen
Ensembl
rs1210903223
CA390394829
454 P>A No ClinGen
gnomAD
CA390394898
rs1256577083
460 G>E No ClinGen
gnomAD
rs762353468
CA263609477
462 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA7267668
rs762353468
462 P>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 465 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1239806085
CA390394972
467 V>A No ClinGen
TOPMed
gnomAD
CA390394963
rs1193894270
467 V>I No ClinGen
gnomAD
CA7267671
rs761869262
470 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs774395630
CA7267670
470 G>R No ClinGen
ExAC
gnomAD
CA7267673
rs750198094
471 A>G No ClinGen
ExAC
gnomAD
CA390395012
rs1176133538
471 A>S No ClinGen
gnomAD
rs1176133538
CA390395010
471 A>T No ClinGen
gnomAD
CA390395016
rs750198094
471 A>V No ClinGen
ExAC
gnomAD
CA263609532
rs912490136
472 V>G No ClinGen
TOPMed
gnomAD
CA390395040
rs1333898500
473 I>T No ClinGen
gnomAD
rs1401500195
CA390395125
477 S>R No ClinGen
TOPMed
gnomAD
CA390395148
rs756291711
479 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs756291711
CA7267675
479 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA7267674
rs756291711
COSM116372
479 A>V ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs755029643
CA7267677
480 E>Q No ClinGen
ExAC
gnomAD
rs943952478
CA263609543
481 E>D No ClinGen
TOPMed
CA390395195
rs1219937386
482 G>E No ClinGen
gnomAD
CA263609553
rs558260445
483 A>S No ClinGen
gnomAD
rs779006014
CA7267678
483 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA7267679
rs113674861
485 N>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA390395235
rs1259844391
486 A>S No ClinGen
TOPMed
gnomAD
CA390395229
rs1259844391
486 A>T No ClinGen
TOPMed
gnomAD
rs1458048078
CA390395238
486 A>V No ClinGen
gnomAD
rs1567047294
CA390395248
487 T>A No ClinGen
Ensembl
rs1203788200
CA390395301
489 E>G No ClinGen
TOPMed
CA7267681
rs778144791
489 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs747341253
CA263609588
490 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA7267683
rs45500395
RCV000972173
490 D>E No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs747341253
CA7267682
490 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA390395333
rs1260462655
491 P>L No ClinGen
TOPMed
gnomAD
CA7267684
rs774981427
492 P>H No ClinGen
ExAC
gnomAD
rs1173465260
CA390395342
492 P>S No ClinGen
gnomAD
rs774020848
CA7267687
493 A>D No ClinGen
ExAC
gnomAD
rs139241074
CA263609647
493 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs139241074
CA7267686
493 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774020848
CA390395364
493 A>V No ClinGen
ExAC
gnomAD
rs1437490497
CA390395375
494 P>H No ClinGen
gnomAD
rs144045913
CA263609653
494 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
CA263609661
rs200392703
495 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs200392703
CA7267689
495 G>W No ClinGen
ExAC
TOPMed
gnomAD
CA390395410
CA7267690
rs368393704
496 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 496 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1373874993
CA390395405
496 E>V No ClinGen
gnomAD
TCGA novel 497 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766246775
CA7267692
497 L>P No ClinGen
ExAC
gnomAD
CA390395415
rs1401847057
497 L>V No ClinGen
TOPMed
gnomAD
rs1595178090
CA390395449
499 P>S No ClinGen
Ensembl
rs755225627
CA7267694
502 M>I No ClinGen
ExAC
gnomAD
rs200906588
CA7267695
503 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200906588
CA263609701
503 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7267698
rs780343241
506 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA7267699
rs199857443
506 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA263609716
rs780343241
506 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA390395587
rs1365579044
507 W>C No ClinGen
TOPMed
gnomAD
rs1233294142
CA390395611
509 R>W No ClinGen
gnomAD
rs139474205
CA7267701
510 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7267700
rs139474205
510 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM2137726
CA7267702
rs376151213
510 R>H upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. liver [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs529237959
CA263609781
511 L>R No ClinGen
gnomAD
CA7267704
rs773931361
512 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs367558909
CA7267705
512 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs367558909
CA390395658
512 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA390395659
rs1158656998
513 R>G No ClinGen
gnomAD
TCGA novel 515 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1013823696
CA263609794
COSM398710
516 R>C lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs371475071
CA7267707
516 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390395752
rs1298855510
518 Q>H No ClinGen
gnomAD
TCGA novel 518 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA390395773
rs1595178139
519 V>G No ClinGen
Ensembl
CA390395791
rs1315018287
521 S>G No ClinGen
TOPMed
rs1354861619
CA390395808
522 G>E No ClinGen
gnomAD
TCGA novel 522 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760708028
CA7267708
523 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7267709
rs770593024
525 P>T No ClinGen
ExAC
gnomAD
CA7267710
rs776507935
528 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs547385931
CA7267711
528 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs765452631
CA7267712
529 F>S No ClinGen
ExAC
gnomAD
rs752986950
CA7267713
530 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1286146337
CA390395917
530 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs762996034
CA390395924
531 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs762996034
CA390395923
531 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs762996034
CA7267714
531 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA7267715
rs201213396
532 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7267716
rs751966382
COSM1562538
532 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1595178167
CA390395943
533 Y>S No ClinGen
Ensembl
rs757800379
CA7267717
534 P>R No ClinGen
ExAC
rs1000954433
CA263609837
535 S>G No ClinGen
Ensembl
rs1473367607
CA390395975
535 S>R No ClinGen
gnomAD
CA7267720
rs756612156
541 F>L No ClinGen
ExAC
rs778693078
CA7267721
544 W>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1159429284
CA390396083
546 S>I No ClinGen
gnomAD
CA390396093
rs1164203758
548 A>P No ClinGen
TOPMed
rs771453510
CA7267724
549 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs771453510
CA7267723
549 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs201230130
CA7267722
549 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7267725
rs746872885
550 G>R No ClinGen
ExAC
gnomAD
rs770918659
CA7267726
550 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA390396129
rs1278703107
554 G>A No ClinGen
gnomAD
rs776347944
CA7267727
554 G>S No ClinGen
ExAC
gnomAD
rs1010008620
CA263609871
555 L>P No ClinGen
Ensembl
rs1179288923
CA390396163
560 V>M No ClinGen
TOPMed
CA7267731
rs372764656
561 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA390396175
rs751668881
562 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs751668881
CA7267733
562 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA263609929
rs940877540
563 P>L No ClinGen
TOPMed
gnomAD
rs1443469913
CA390396181
563 P>S No ClinGen
gnomAD
rs762160922
CA7267734
564 T>I No ClinGen
ExAC
gnomAD
rs1193438736
CA390396184
564 T>S No ClinGen
TOPMed
gnomAD
CA390396191
rs1459325333
565 L>S No ClinGen
gnomAD
rs1179501666
CA390396199
566 G>D No ClinGen
TOPMed
gnomAD
rs1179501666
CA390396200
566 G>V No ClinGen
TOPMed
gnomAD
CA390396211
rs756524090
568 G>A No ClinGen
ExAC
gnomAD
rs756524090
CA7267737
568 G>E No ClinGen
ExAC
gnomAD
CA7267736
rs140697985
568 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7267735
rs140697985
568 G>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7267740
rs758092663
569 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs770417398
CA7267744
571 E>A No ClinGen
ExAC
gnomAD
CA7267743
rs746538605
571 E>K No ClinGen
ExAC
gnomAD
rs781096357
CA7267745
572 A>T No ClinGen
ExAC
gnomAD
CA7267748
rs745842988
576 Q>R No ClinGen
ExAC
gnomAD
CA7267749
rs769535334
577 E>K No ClinGen
ExAC
gnomAD
rs769535334
CA390396268
577 E>Q No ClinGen
ExAC
gnomAD
rs775281799
CA7267750
577 E>V No ClinGen
ExAC
gnomAD
CA7267751
rs535280501
578 K>E No ClinGen
1000Genomes
ExAC
gnomAD
CA7267752
rs548859601
579 E>D No ClinGen
1000Genomes
ExAC
gnomAD
rs774503192
CA7267753
581 G>D No ClinGen
ExAC
gnomAD
rs893175532
CA263610024
582 R>G No ClinGen
TOPMed
rs1322381886
CA390396313
584 V>M No ClinGen
gnomAD
CA7267754
rs565988646
586 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1479914452
CA390396342
588 M>I No ClinGen
TOPMed
TCGA novel 589 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA390396356
rs1247385466
590 P>L No ClinGen
gnomAD
CA7267757
rs781768914
591 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA7267756
rs781768914
591 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA390396375
rs1421383960
594 A>T No ClinGen
gnomAD
rs192160976
CA7267759
595 S>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA7267762
rs200268170
597 E>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200268170
CA7267761
597 E>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs908309399
CA390396414
600 E>D No ClinGen
TOPMed
gnomAD
rs1331184254
CA390396412
600 E>G No ClinGen
gnomAD
rs45447993
CA7267763
600 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs45447993
CA7267764
600 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs780708076
CA7267765
601 G>E No ClinGen
ExAC
gnomAD
rs756053899
CA7267767
603 P>S No ClinGen
ExAC
gnomAD
rs779754626
CA7267768
604 S>P No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 605 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7267770
rs768393736
607 G>A No ClinGen
ExAC
gnomAD
rs1225173937
CA390396460
608 A>D No ClinGen
TOPMed
TCGA novel 608 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1191578616
CA390396459
608 A>S No ClinGen
TOPMed
gnomAD
rs1191578616
CA390396457
608 A>T No ClinGen
TOPMed
gnomAD
rs748357085
CA7267772
609 L>P No ClinGen
ExAC
gnomAD
CA390396469
rs1338300851
610 Q>* No ClinGen
TOPMed
rs772239650
CA7267773
610 Q>H No ClinGen
ExAC
gnomAD
TCGA novel 610 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773449275
CA7267774
611 E>K No ClinGen
ExAC
gnomAD
rs761206901
CA7267775
612 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA7267776
rs761206901
612 G>W No ClinGen
ExAC
TOPMed
gnomAD
CA263610123
rs1057229239
613 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1456136448
CA390396491
614 T>A No ClinGen
TOPMed
gnomAD
CA390396496
rs1390990201
615 A>T No ClinGen
TOPMed
gnomAD
CA7267777
rs572643627
615 A>V No ClinGen
ExAC
gnomAD
CA7267778
rs146996520
617 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA390396511
rs1468928436
617 G>S No ClinGen
TOPMed
rs765572698
CA390396523
619 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs765572698
CA7267779
619 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA263610129
rs948350607
621 S>N No ClinGen
Ensembl
rs1293149415
CA390396535
621 S>R No ClinGen
gnomAD
CA390396555
rs1339078452
624 L>V No ClinGen
TOPMed
gnomAD
CA390396564
rs1285065521
625 L>P No ClinGen
gnomAD
CA7267780
rs751181660
627 Q>K No ClinGen
ExAC
gnomAD
CA390396595
CA390396594
rs1288281642
630 V>L No ClinGen
TOPMed
gnomAD
CA390396602
rs1488625739
631 A>E No ClinGen
gnomAD
rs147691350
CA7267782
633 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390396618
rs1374911313
634 G>D No ClinGen
TOPMed
CA263610140
rs984920644
634 G>S No ClinGen
TOPMed
gnomAD
CA7267785
rs779953247
637 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA390396638
rs1269393495
637 D>V No ClinGen
TOPMed
CA7267788
rs778606069
639 R>Q No ClinGen
ExAC
gnomAD
rs754770535
CA7267787
639 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1595178404
CA390396682
642 V>G No ClinGen
Ensembl
rs1406314819
CA390396720
645 M>I No ClinGen
TOPMed
CA390396719
rs1451341814
645 M>R No ClinGen
TOPMed
CA7267793
rs747084343
647 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA390396753
rs1400672520
649 T>A No ClinGen
TOPMed
gnomAD
rs370660662
CA7267794
649 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1376566134
CA390396772
650 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1238265814
CA390396784
651 F>L No ClinGen
gnomAD
rs1243962348
CA390396893
661 K>M No ClinGen
TOPMed
CA7267798
rs138382688
662 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1255395437
CA390396945
664 Q>R No ClinGen
gnomAD
rs1427044653
CA390396968
665 S>C No ClinGen
Ensembl
CA390397033
rs1271975900
671 Y>C No ClinGen
TOPMed
CA390397206
rs1196182402
679 P>L No ClinGen
TOPMed
rs767148950
CA7267801
680 L>I No ClinGen
ExAC
gnomAD
rs1341359355
CA390397279
683 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA390397274
rs1407530684
683 R>S No ClinGen
gnomAD
rs754896050
CA7267806
687 Y>C No ClinGen
ExAC
gnomAD
CA390397427
rs1468056511
690 K>R No ClinGen
gnomAD
CA7267807
rs138344566
691 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7267809
rs758336633
694 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs752440177
CA7267808
COSM3815294
694 Y>H breast [Cosmic] No ClinGen
cosmic curated
ExAC
rs559655703
CA7267811
695 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 696 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1333685835
CA390397556
698 T>I No ClinGen
gnomAD

No associated diseases with Q9H8Y1

1 regional properties for Q9H8Y1

Type Name Position InterPro Accession
domain Vertnin-like, ovarian tumor domain 74 - 241 IPR047273

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
chromatin The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.

1 GO annotations of molecular function

Name Definition
sequence-specific DNA binding Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding.

1 GO annotations of biological process

Name Definition
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

5 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
E1BP92 VRTN Vertnin Bos taurus (Bovine) PR
D2GZW6 VRTN Vertnin Ailuropoda melanoleuca (Giant panda) PR
Q3SYK4 Vrtn Vertnin Mus musculus (Mouse) PR
E1CHH8 VRTN Vertnin Sus scrofa (Pig) PR
Q08C99 vrtn Vertnin Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MTSRNQLVQK VLQELQEAVE CEGLEGLIGA SLEAKQVLSS FTLPTCREGG PGLQVLEVDS
70 80 90 100 110 120
VALSLYPEDA PRNMLPLVCK GEGSLLFEAA SMLLWGDAGL SLELRARTVV EMLLHRHYYL
130 140 150 160 170 180
QGMIDSKVML QAVRYSLCSE ESPEMTSLPP ATLEAIFDAD VKASCFPSSF SNVWHLYALA
190 200 210 220 230 240
SVLQRNIYSI YPMRNLKIRP YFNRVIRPRR CDHVPSTLHI MWAGQPLTSH FFRHQYFAPV
250 260 270 280 290 300
VGLEEVEAEG APGVAPALPA LAPLSSPAKT LELLNREPGL SYSHLCERYS VTKSTFYRWR
310 320 330 340 350 360
RQSQEHRQKV AARFSAKHFL QDSFHRGGVV PLQQFLQRFP EISRSTYYAW KHELLGSGTC
370 380 390 400 410 420
PALPPREVLG MEELEKLPEE QVAEEELECS ALAVSSPGMV LMQRAKLYLE HCISLNTLVP
430 440 450 460 470 480
YRCFKRRFPG ISRSTYYNWR RKALRRNPSF KPAPALSAAG TPQLASVGEG AVIPWKSEAE
490 500 510 520 530 540
EGAGNATGED PPAPGELLPL RMPLSRWQRR LRRAARRQVL SGHLPFCRFR LRYPSLSPSA
550 560 570 580 590 600
FWVWKSLARG WPRGLSKLQV PVPTLGKGGQ EAEEKQEKEA GRDVTAVMAP PVGASSEDVE
610 620 630 640 650 660
GGPSREGALQ EGATAQGQPH SGPLLSQPVV AAAGGRDGRM LVMDMIATTK FKAQAKLFLQ
670 680 690 700
KRFQSKSFPS YKEFSALFPL TARSTYYMWK RALYDGLTLV DG