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

5 structures for Q5VYS8

Entry ID Method Resolution Chain Position Source
5W0B X-ray 261 A A/B/C 983-1365 PDB
5W0M X-ray 230 A A/B/C 983-1365 PDB
5W0N X-ray 250 A A/B/C 963-1365 PDB
5W0O X-ray 249 A A/B 983-1365 PDB
AF-Q5VYS8-F1 Predicted AlphaFoldDB

942 variants for Q5VYS8

Variant ID(s) Position Change Description Diseaes Association Provenance
rs779155171 1 M>? Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1162919713
CA373965774
2 G>E No ClinGen
TOPMed
TCGA novel 3 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757461681
CA5109356
5 A>T No ClinGen
ExAC
gnomAD
CA195565930
rs145203227
10 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5109355
rs145203227
10 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs142251867
CA5109354
12 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201201332
CA5109353
12 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA373965681
rs201201332
12 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 12 R>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5109352
rs753020716
13 T>S No ClinGen
ExAC
gnomAD
rs774587503
CA195565913
14 K>E No ClinGen
TOPMed
rs1244526966
CA373965644
15 D>E No ClinGen
TOPMed
rs1365365704
CA373965647
15 D>G No ClinGen
TOPMed
CA195565889
rs753161080
16 R>Q No ClinGen
TOPMed
gnomAD
rs767133738
CA5109350
16 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1057214856
CA195565881
17 G>E No ClinGen
TOPMed
gnomAD
rs143304464
CA5109349
18 T>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA373965605
rs1207139166
19 M>T No ClinGen
TOPMed
CA5109347
rs751025075
19 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1482057472
CA373965580
21 D>A No ClinGen
gnomAD
CA373965574
rs1282088250
22 D>H No ClinGen
gnomAD
CA373965572
rs1282088250
22 D>N No ClinGen
gnomAD
rs765841200
CA5109346
23 D>N No ClinGen
ExAC
gnomAD
rs762512323
CA5109345
24 F>C No ClinGen
ExAC
gnomAD
CA373965531
rs1241737151
24 F>L No ClinGen
TOPMed
gnomAD
rs773185841
CA5109344
25 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA195565862
rs2378699
25 R>K No ClinGen
Ensembl
TCGA novel 27 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA195565861
rs143390882
27 G>S No ClinGen
ESP
TOPMed
rs927433414
CA195565860
29 P>L No ClinGen
TOPMed
CA5109343
rs149202228
30 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs2889967
CA195565856
30 Q>H No ClinGen
gnomAD
rs2378698
CA195565857
30 Q>P No ClinGen
Ensembl
rs2378698
CA373965395
30 Q>R No ClinGen
Ensembl
CA5109341
rs776319572
32 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs761600677
CA5109342
32 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs2378697
CA195565830
33 Y>F No ClinGen
Ensembl
CA373965303
rs1359597267
34 L>* No ClinGen
gnomAD
CA373965270
rs1322150245
35 I>M No ClinGen
TOPMed
CA5109340
rs772370653
35 I>V No ClinGen
ExAC
TOPMed
CA373965253
rs1407110267
36 I>V No ClinGen
TOPMed
gnomAD
CA195565819
rs931556377
37 D>G No ClinGen
TOPMed
gnomAD
CA195565800
rs2378696
38 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs905498668
CA195565794
38 D>E No ClinGen
Ensembl
rs746065141
CA5109339
38 D>N No ClinGen
ExAC
gnomAD
CA195565793
rs2378695
40 A>G No ClinGen
1000Genomes
CA195565792
rs2378695
VAR_053753
40 A>V No ClinGen
UniProt
1000Genomes
dbSNP
CA373965164
rs1186206491
41 K>N No ClinGen
gnomAD
CA373965161
rs1421612307
42 G>S No ClinGen
gnomAD
rs2378694
CA195565791
44 G>A No ClinGen
Ensembl
rs1188145613
CA373965017
48 E>D No ClinGen
gnomAD
CA195565786
rs2378693
48 E>K No ClinGen
Ensembl
CA195565780
rs2378692
51 L>F No ClinGen
Ensembl
rs1023869795
CA195565769
54 K>E No ClinGen
Ensembl
rs369091628 54 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771131890
CA195565737
56 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs771131890
CA5109337
56 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1207299882
CA373964932
57 T>I No ClinGen
gnomAD
rs2378691
CA195565732
57 T>P No ClinGen
1000Genomes
rs2378691
CA195565729
57 T>S No ClinGen
1000Genomes
CA373964922
rs1392084844
59 G>E No ClinGen
gnomAD
TCGA novel 59 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1265432712
CA373964917
60 N>Y No ClinGen
gnomAD
CA5109336
rs749386390
61 Y>S No ClinGen
ExAC
gnomAD
CA195565695
rs1052561423
63 N>S No ClinGen
Ensembl
rs935474599
CA195565689
65 P>H No ClinGen
Ensembl
CA195565687
rs2889966
66 R>K No ClinGen
Ensembl
rs375238747
CA5109333
70 C>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375238747
CA5109332
70 C>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA373964847
rs1428363799
71 A>P No ClinGen
gnomAD
rs1338754762
CA373964845
71 A>V No ClinGen
TOPMed
gnomAD
CA373964840
rs932006399
72 V>I No ClinGen
TOPMed
gnomAD
CA195565663
rs932006399
72 V>L No ClinGen
TOPMed
gnomAD
CA373964833
rs1564107888
73 S>P No ClinGen
Ensembl
rs1162512699
CA373964826
74 S>G No ClinGen
gnomAD
rs755372864
CA5109331
74 S>R No ClinGen
ExAC
gnomAD
rs751203925
CA5109330
76 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs757863738
CA5109328
77 Y>H No ClinGen
ExAC
gnomAD
CA373964799
rs1260651519
78 A>S No ClinGen
gnomAD
CA373964776
rs1588034374
81 N>T No ClinGen
Ensembl
CA195565630
rs145331258
83 I>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5109326
rs145331258
83 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs749904383
CA5109327
83 I>V No ClinGen
ExAC
gnomAD
CA373964757
rs1208521513
84 Y>C No ClinGen
gnomAD
rs1267116436
CA373964760
84 Y>H No ClinGen
gnomAD
TCGA novel 85 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA373964738
rs761678664
86 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA373964732
rs1273848344
87 P>L No ClinGen
gnomAD
CA195565622
rs941917171
88 A>T No ClinGen
TOPMed
gnomAD
TCGA novel 89 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5109323
rs763951582
89 W>C No ClinGen
ExAC
TOPMed
gnomAD
CA373964716
rs1326745314
90 M>L No ClinGen
gnomAD
CA373964698
rs1438568010
92 D>A No ClinGen
gnomAD
rs1438568010
CA373964697
92 D>G No ClinGen
gnomAD
rs371050255
CA5109321
93 S>T No ClinGen
ESP
ExAC
gnomAD
rs749325538
CA5109319
94 H>L No ClinGen
ExAC
TOPMed
gnomAD
CA5109320
rs771293279
94 H>N No ClinGen
ExAC
gnomAD
CA373964679
rs1245718284
95 K>E No ClinGen
TOPMed
gnomAD
rs150436658
CA195565595
96 D>V No ClinGen
ESP
rs191747222
CA5109318
99 K>M No ClinGen
1000Genomes
ExAC
gnomAD
CA373964644
rs1303950079
COSM1490202
99 K>N Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs781711083
CA5109315
105 E>K No ClinGen
ExAC
gnomAD
rs1470199287
CA373964598
106 H>Y No ClinGen
gnomAD
rs1254235921
CA373964576
109 N>S No ClinGen
gnomAD
CA5109314
rs141619272
111 D>V No ClinGen
ESP
ExAC
rs1290648051
CA373964554
112 N>K No ClinGen
TOPMed
rs140978834
CA5109313
112 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs186823288
CA5109312
114 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5109310
COSM287141
rs749897372
119 G>R large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA373964498
rs1344618774
120 P>R No ClinGen
TOPMed
gnomAD
rs373690069
CA195565537
121 R>G No ClinGen
ESP
TOPMed
CA373964492
rs1273996993
121 R>S No ClinGen
gnomAD
rs1231868739
CA373964468
125 I>T No ClinGen
gnomAD
rs764631192
CA373964453
127 R>L No ClinGen
ExAC
gnomAD
rs764631192
CA5109309
127 R>Q No ClinGen
ExAC
gnomAD
CA373964438
rs1210824615
129 R>S No ClinGen
TOPMed
rs756832197
CA5109308
130 K>I No ClinGen
ExAC
gnomAD
CA5109307
rs753824494
130 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA195565505
rs1032127384
132 S>F No ClinGen
TOPMed
rs1330333745
CA373964393
136 N>D No ClinGen
gnomAD
CA5109306
rs764186753
136 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs370276327
CA5109305
138 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA195565498
rs979862289
138 D>N No ClinGen
TOPMed
gnomAD
CA373964370
rs1189160391
139 G>D No ClinGen
TOPMed
CA5109304
rs752548118
139 G>S No ClinGen
ExAC
gnomAD
rs1588033742
CA373964344
143 Q>K No ClinGen
Ensembl
CA373964325
rs1455900150
145 T>K No ClinGen
gnomAD
CA373964322
rs1564107169
146 R>G No ClinGen
Ensembl
rs766672211
CA373964313
147 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA5109303
rs766672211
147 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs969718854
CA195565471
147 G>S No ClinGen
Ensembl
CA373964304
rs1588033653
148 C>W No ClinGen
Ensembl
rs144572642
CA5109302
149 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769754248
CA5109300
150 T>I No ClinGen
ExAC
gnomAD
CA5109301
rs199687338
150 T>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 151 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA195565443
rs1021238837
153 R>G No ClinGen
TOPMed
TCGA novel 153 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5109299
rs762007355
154 L>Q No ClinGen
ExAC
gnomAD
CA373964265
rs1276842358
155 F>L No ClinGen
gnomAD
rs777061932
CA5109298
156 H>R No ClinGen
ExAC
gnomAD
CA373964246
rs1588033525
158 D>A No ClinGen
Ensembl
rs1280799744
CA373964247
158 D>H No ClinGen
gnomAD
CA195565409
rs966948420
159 L>V No ClinGen
TOPMed
gnomAD
CA5109296
rs201566816
160 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs201566816
COSM3780173
CA373964233
160 T>R urinary_tract [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA5109295
rs142341283
161 S>C No ClinGen
ESP
ExAC
gnomAD
rs1031189976
CA195565389
161 S>N No ClinGen
Ensembl
rs745478644
CA5109294
162 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA373964224
rs1339498384
162 L>P No ClinGen
TOPMed
gnomAD
CA373964222
rs1219910861
163 E>Q No ClinGen
TOPMed
COSM753969
CA195565321
rs1020835849
165 T>M lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA373964186
rs1465436619
168 M>K No ClinGen
Ensembl
CA373963921
rs1588015323
174 E>V No ClinGen
Ensembl
rs151232839
CA5109255
175 N>K No ClinGen
ESP
ExAC
TOPMed
CA5109254
rs774811677
176 K>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA373963872
rs1430542061
181 R>K No ClinGen
gnomAD
rs1186926017
CA373963851
184 K>T No ClinGen
gnomAD
rs1353741708
CA373963845
185 P>T No ClinGen
TOPMed
CA5109252
rs201715276
186 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5109253
rs370301209
186 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1215013588
CA373963832
187 K>M No ClinGen
gnomAD
rs61747122
RCV000965109
CA5109249
188 T>I No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA5109251
rs773043739
188 T>S No ClinGen
ExAC
rs61747122
CA5109250
188 T>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA373963826
rs1280824907
189 R>G No ClinGen
TOPMed
rs1250282994
CA15602817
190 N>S No ClinGen
TOPMed
gnomAD
rs1253827556
CA373963812
191 E>K No ClinGen
gnomAD
CA5109248
rs780921499
192 E>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA5109247
rs371940964
201 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375488484
CA5109245
205 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1048638948
CA195560806
206 E>D No ClinGen
TOPMed
rs1399574621
CA373963697
207 S>P No ClinGen
TOPMed
gnomAD
CA373963692
rs1253448307
208 V>I No ClinGen
TOPMed
rs573749109
CA195560775
211 T>A No ClinGen
Ensembl
rs754054941
CA5109243
211 T>M No ClinGen
ExAC
gnomAD
CA373963664
rs1170863673
212 K>N No ClinGen
gnomAD
rs777924923
CA373963656
213 E>D No ClinGen
ExAC
gnomAD
rs941790084
CA195560726
213 E>K No ClinGen
Ensembl
rs983094223
CA195560706
217 L>S No ClinGen
Ensembl
CA5109239
rs767872713
218 Q>E No ClinGen
ExAC
gnomAD
rs202080089
CA5109238
219 Q>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1454674483
CA373963617
220 A>S No ClinGen
TOPMed
gnomAD
CA373963619
rs1454674483
220 A>T No ClinGen
TOPMed
gnomAD
rs766822670
CA5109236
222 E>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 225 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs375411108
CA5109233
226 R>T Variant assessed as Somatic; 4.626e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs192099334
CA5109231
227 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs768097673
CA5109230
229 I>T No ClinGen
ExAC
gnomAD
TCGA novel 231 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771841351
CA5109227
234 R>M No ClinGen
ExAC
TOPMed
gnomAD
rs776184649
CA5109213
235 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA195560223
COSM287565
rs776184649
235 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1157805468
CA373963495
236 P>L No ClinGen
gnomAD
rs139153052
CA5109212
237 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5109211
rs529751930
238 N>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA373963474
rs1167701091
240 P>A No ClinGen
TOPMed
CA5109209
rs772010962
240 P>L No ClinGen
ExAC
gnomAD
TCGA novel 241 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1394707353
CA373963466
241 T>I No ClinGen
TOPMed
CA5109208
rs745612057
241 T>P No ClinGen
ExAC
gnomAD
rs1363825302
CA373963446
244 Y>F No ClinGen
gnomAD
rs1411885801
CA373963429
247 R>G No ClinGen
TOPMed
rs377220747
CA195560171
248 L>F No ClinGen
ESP
gnomAD
rs377220747
CA373963421
248 L>V No ClinGen
ESP
gnomAD
CA5109205
rs748376571
250 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs781323313
CA5109204
250 D>V No ClinGen
ExAC
gnomAD
CA373963399
rs755077966
251 V>A No ClinGen
ExAC
gnomAD
CA5109203
rs755077966
251 V>D No ClinGen
ExAC
gnomAD
CA195560146
rs1006079147
256 I>T No ClinGen
Ensembl
CA373963359
rs1365160653
256 I>V No ClinGen
TOPMed
CA5109202
rs751608191
257 A>V No ClinGen
ExAC
gnomAD
TCGA novel 259 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 259 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA195560132
rs988777004
260 H>R No ClinGen
TOPMed
gnomAD
TCGA novel 261 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5109201
rs780661622
263 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs756079105
CA195560115
263 I>V No ClinGen
Ensembl
CA5109200
rs759007947
267 R>G No ClinGen
ExAC
gnomAD
CA5109199
rs751009735
268 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA195560107
rs1047504972
269 K>E No ClinGen
TOPMed
rs1588012354
CA373963158
270 K>I No ClinGen
Ensembl
rs1294211562
CA373963145
271 N>S No ClinGen
TOPMed
gnomAD
CA373963139
rs1341161992
272 I>V No ClinGen
TOPMed
TCGA novel 274 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA195559756
rs763655153
275 K>E No ClinGen
Ensembl
CA5109184
rs768786445
277 E>K No ClinGen
ExAC
gnomAD
CA5109183
rs747049274
283 T>M No ClinGen
ExAC
gnomAD
rs758602115
CA5109181
284 L>S No ClinGen
ExAC
gnomAD
CA373962898
rs1438640659
286 P>L No ClinGen
gnomAD
CA373962892
rs1198765083
287 P>A No ClinGen
TOPMed
rs1427189763
CA373962889
287 P>Q No ClinGen
TOPMed
CA373962894
rs1198765083
287 P>T No ClinGen
TOPMed
rs1323678948
CA373962882
288 T>A No ClinGen
gnomAD
CA5109180
rs78187627
288 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA373962873
rs1588010551
289 P>A No ClinGen
Ensembl
CA373962865
rs1176534324
289 P>L No ClinGen
TOPMed
CA373962843
rs757575568
291 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs763753780
CA5109176
296 G>A No ClinGen
ExAC
gnomAD
CA195559668
rs948452921
296 G>C No ClinGen
Ensembl
CA373962752
rs1300738991
299 I>V No ClinGen
TOPMed
rs1366117592
CA373962732
300 D>A No ClinGen
TOPMed
CA5109175
rs371329327
301 K>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 302 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA373962699
rs1302433956
303 V>L No ClinGen
TOPMed
CA5109174
rs752386065
305 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs903570419
CA195559667
305 E>K No ClinGen
TOPMed
TCGA novel 307 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs914214054
CA195559651
309 H>P No ClinGen
TOPMed
CA5109172
rs759102298
310 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA373962601
rs1289053596
312 N>H No ClinGen
gnomAD
rs1221933903
CA373962543
315 Q>R No ClinGen
TOPMed
rs1377583136
CA373962506
318 E>G No ClinGen
gnomAD
TCGA novel 318 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 320 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766227229
CA5109170
321 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs762764983
CA5109169
321 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA5109168
rs772915611
322 I>L No ClinGen
ExAC
gnomAD
CA373962445
rs1373149418
323 M>V No ClinGen
gnomAD
CA5109167
rs563321567
325 N>D No ClinGen
ExAC
gnomAD
CA5109164
rs772276191
326 V>A No ClinGen
ExAC
gnomAD
rs150701408
CA5109165
326 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs150701408
CA5109166
326 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA373962414
rs1330397024
327 F>C No ClinGen
gnomAD
CA373962391
rs1426563876
329 H>P No ClinGen
TOPMed
rs35653710
CA195558312
334 C>W No ClinGen
Ensembl
CA195558319
rs141994664
334 C>Y No ClinGen
ESP
TOPMed
gnomAD
rs772437076
CA5109142
339 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs761197701
CA5109141
343 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs112306304
CA5109140
345 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199887046
CA5109137
CA5109138
348 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs202154191
CA5109136
349 K>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5109135
rs748513865
349 K>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 350 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA373961878
rs1312884523
356 D>Y No ClinGen
TOPMed
CA373961848
rs1445245185
358 Q>R No ClinGen
TOPMed
gnomAD
rs751269496
CA5109132
362 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs374368241
CA5109133
362 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA373960543
rs1367971547
363 M>L No ClinGen
gnomAD
CA195556802
rs753003062
365 Q>H No ClinGen
TOPMed
TCGA novel 370 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA373960321
rs1229257977
372 V>L No ClinGen
TOPMed
gnomAD
TCGA novel 374 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA195556796
rs765354660
375 C>R No ClinGen
Ensembl
rs757292298
CA5109107
381 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs757292298
CA5109108
381 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA5109106
rs753865676
382 F>V No ClinGen
ExAC
TOPMed
gnomAD
CA5109105
rs763959648
384 D>G No ClinGen
ExAC
gnomAD
rs763959648
CA373959886
384 D>V No ClinGen
ExAC
gnomAD
CA373959828
rs940058115
387 A>G No ClinGen
gnomAD
rs940058115
CA195555990
387 A>V No ClinGen
gnomAD
CA5109104
rs760574434
388 D>Y No ClinGen
ExAC
gnomAD
rs751724559
CA5109103
389 F>L No ClinGen
ExAC
gnomAD
TCGA novel 389 F>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1444662625
CA373959777
390 H>R No ClinGen
gnomAD
CA373959739
rs1564090083
392 R>S No ClinGen
Ensembl
rs143742419
CA5109102
395 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs75302229
CA195555980
398 C>F No ClinGen
Ensembl
CA5109099
rs765344339
400 E>D No ClinGen
ExAC
gnomAD
CA373959575
rs1160518689
402 Q>R No ClinGen
TOPMed
rs890292000
CA195555122
403 S>R No ClinGen
Ensembl
rs576476359
CA5109072
406 L>R No ClinGen
1000Genomes
ExAC
gnomAD
rs931739817
CA373959270
411 A>S No ClinGen
TOPMed
gnomAD
CA195555100
COSM422324
rs931739817
411 A>T urinary_tract [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
TCGA novel 412 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5109070
rs369631683
413 N>S No ClinGen
ESP
ExAC
gnomAD
rs11999128
CA5109067
417 C>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5109066
rs747853622
420 T>A No ClinGen
ExAC
gnomAD
TCGA novel 421 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5109063
rs750641324
428 K>R No ClinGen
ExAC
gnomAD
rs941680544
CA373958900
434 V>F No ClinGen
TOPMed
gnomAD
rs941680544
CA195555006
434 V>I No ClinGen
TOPMed
gnomAD
rs200349326
CA5109061
436 L>F No ClinGen
ExAC
gnomAD
CA195554993
rs866068989
437 V>L No ClinGen
Ensembl
rs764467993
CA5109059
438 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA5109060
rs753939459
438 I>V No ClinGen
ExAC
gnomAD
rs753192584
CA5109057
442 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs753192584
CA373958726
442 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA373958665
rs1403220001
444 A>S No ClinGen
gnomAD
rs762659792
CA373957744
448 S>C No ClinGen
ExAC
gnomAD
rs762659792
CA5109035
448 S>G No ClinGen
ExAC
gnomAD
rs919113809
CA195552310
448 S>N No ClinGen
Ensembl
CA5109034
rs772785457
449 I>V No ClinGen
ExAC
gnomAD
rs1564086237
CA373957713
450 D>A No ClinGen
Ensembl
rs377283750
CA5109033
451 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778107333
CA5109032
451 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs778107333
CA5109031
451 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1279606200
CA373957625
455 G>R No ClinGen
gnomAD
TCGA novel 456 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA373957602
rs1217394605
457 L>V No ClinGen
gnomAD
TCGA novel 460 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs868372493
CA195552298
463 A>V No ClinGen
Ensembl
rs1237917174
COSM4139638
CA373957262
472 Q>R lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1182363589
CA373957198
475 E>V No ClinGen
TOPMed
CA5109026
rs749497606
476 P>A No ClinGen
ExAC
gnomAD
CA5109025
rs777923164
476 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs749497606
CA5109027
476 P>S No ClinGen
ExAC
gnomAD
rs752730875
CA5109023
479 P>A No ClinGen
ExAC
gnomAD
rs1158323522
CA373957141
480 V>A No ClinGen
TOPMed
rs1473359590
CA373957148
480 V>I No ClinGen
TOPMed
rs1416630000
CA373957130
481 Y>C No ClinGen
gnomAD
TCGA novel 481 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA373957122
rs1426004675
482 L>I No ClinGen
gnomAD
TCGA novel 488 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769929887
CA5109004
489 F>L No ClinGen
ExAC
gnomAD
rs748215037
CA5109003
491 L>V No ClinGen
ExAC
gnomAD
CA5109002
rs781385125
492 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA5109000
rs747501311
493 K>N No ClinGen
ExAC
CA5109001
rs755155326
493 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA373956414
rs1187846140
496 N>S No ClinGen
gnomAD
rs750779168
CA5108997
496 N>Y No ClinGen
ExAC
TOPMed
gnomAD
CA5108996
rs756829339
498 N>K No ClinGen
ExAC
gnomAD
CA373956398
rs1345332911
498 N>S No ClinGen
TOPMed
CA373956385
rs1269451184
500 Q>R No ClinGen
gnomAD
rs763582765
CA5108993
503 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs760244645
CA5108992
510 E>Q No ClinGen
ExAC
gnomAD
rs878978126
CA195546912
511 H>D No ClinGen
Ensembl
CA373956300
rs1213606369
512 T>A No ClinGen
TOPMed
rs1230324728
CA373956298
512 T>N No ClinGen
gnomAD
rs767455747
CA5108990
513 D>E No ClinGen
ExAC
gnomAD
CA5108989
rs560704303
514 S>G No ClinGen
1000Genomes
ExAC
gnomAD
CA5108987
rs770796065
516 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA5108988
rs770796065
516 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs748293741
CA5108986
517 G>R No ClinGen
ExAC
gnomAD
rs377765400
CA5108985
518 D>H No ClinGen
ESP
ExAC
gnomAD
rs768792867
CA5108984
519 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs892757541
CA195546881
520 G>A No ClinGen
TOPMed
CA195546874
rs765657868
521 I>V No ClinGen
Ensembl
rs1197764054
CA373956192
523 K>E No ClinGen
TOPMed
CA5108983
rs747102334
524 E>K No ClinGen
ExAC
gnomAD
rs1406941439 525 E>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs780663287
CA5108982
527 P>A No ClinGen
ExAC
CA5108981
rs373205612
527 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs199585068
CA5108980
528 R>K No ClinGen
1000Genomes
ExAC
gnomAD
CA373956065
rs1478531780
530 T>A No ClinGen
TOPMed
CA5108978
rs146532116
530 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5108976
rs149486999
531 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs149486999
CA5108977
531 P>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs544962008
CA5108974
534 R>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs544962008
CA373955945
534 R>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs376187706
CA5108973
536 Q>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs530912952
CA5108972
536 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1287499801
CA373954642
540 I>M No ClinGen
TOPMed
gnomAD
CA5108956
rs755793691
540 I>R No ClinGen
ExAC
gnomAD
rs780541304
CA5108954
541 L>V No ClinGen
ExAC
gnomAD
CA195545706
rs75677091
543 V>L No ClinGen
gnomAD
CA373954615
rs75677091
543 V>M No ClinGen
gnomAD
CA5108953
rs754572213
544 K>T No ClinGen
ExAC
gnomAD
CA373954580
rs1212937236
545 H>Q No ClinGen
TOPMed
rs949002468
CA195545705
545 H>R No ClinGen
Ensembl
rs1465459680
CA373954578
546 Q>E No ClinGen
gnomAD
rs751443994
CA5108952
547 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA5108951
rs766356764
548 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs762610101
CA5108950
549 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs750278805
CA5108949
551 V>F No ClinGen
ExAC
gnomAD
CA373954488
rs1409834587
553 Q>R No ClinGen
gnomAD
rs113877876
CA195545692
556 V>A No ClinGen
Ensembl
rs41310053
CA5108945
560 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs759667515
CA5108944
562 Y>N No ClinGen
ExAC
gnomAD
CA373954202
rs1375457461
570 D>Y No ClinGen
TOPMed
CA5108942
rs771489134
574 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA373954102
rs1210829754
575 I>V No ClinGen
gnomAD
CA373954066
rs1328581115
576 R>H No ClinGen
gnomAD
CA5108941
rs749613140
578 K>N No ClinGen
ExAC
gnomAD
TCGA novel 579 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778080084
CA5108940
580 L>S No ClinGen
ExAC
gnomAD
rs1352142027
CA373953985
581 V>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs770189931
CA5108939
582 S>P No ClinGen
ExAC
gnomAD
CA5108938
rs747781651
583 R>Q No ClinGen
ExAC
gnomAD
rs200763713
CA195545662
585 L>S No ClinGen
Ensembl
CA195545646
rs892024505
590 K>R No ClinGen
TOPMed
rs754376979
CA5108936
592 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs779817903
CA5108934
595 I>T No ClinGen
ExAC
gnomAD
rs1296783181
CA373953657
595 I>V No ClinGen
TOPMed
rs1338428003
CA373953221
600 S>C No ClinGen
TOPMed
rs369824696
CA5108906
609 L>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778999776
CA5108904
613 P>A No ClinGen
ExAC
gnomAD
rs778999776
CA373952934
613 P>S No ClinGen
ExAC
gnomAD
rs375541478
CA5108903
615 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5108902
rs149751959
618 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5108901
rs149751959
618 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 625 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751777677
CA373952602
627 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs751777677
CA5108899
627 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA195544979
rs1046754319
633 H>D No ClinGen
Ensembl
CA5108894
rs762127904
634 K>E No ClinGen
ExAC
gnomAD
rs762127904
CA5108895
634 K>Q No ClinGen
ExAC
gnomAD
rs777026458
CA5108893
634 K>R No ClinGen
ExAC
gnomAD
rs768953994
CA5108892
636 T>I No ClinGen
ExAC
gnomAD
CA5108891
rs150985653
639 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs771642859
CA5108889
642 K>M No ClinGen
ExAC
gnomAD
CA373952286
rs1384687918
642 K>N No ClinGen
gnomAD
rs199527404
CA5108890
642 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs745387000
CA5108888
645 N>K No ClinGen
ExAC
CA5108886
rs372250530
646 A>V No ClinGen
ESP
ExAC
gnomAD
CA373952196
rs1386597552
648 T>A No ClinGen
TOPMed
gnomAD
CA195544941
rs1023132869
648 T>I No ClinGen
TOPMed
rs1386597552
CA373952200
648 T>P No ClinGen
TOPMed
gnomAD
CA373952166
rs1429690767
649 C>G No ClinGen
gnomAD
CA373952144
rs1318138860
650 I>N No ClinGen
TOPMed
rs1318138860
CA373952142
650 I>T No ClinGen
TOPMed
CA5108883
rs560186330
653 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs749223528
CA5108884
653 H>Y No ClinGen
ExAC
gnomAD
CA5108882
rs376742250
656 E>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA373952033
rs1454783939
656 E>D No ClinGen
gnomAD
rs1017036268
CA195544929
657 V>I No ClinGen
TOPMed
rs1368359022
CA373952013
658 I>V No ClinGen
gnomAD
CA5108881
rs751797750
663 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA373951854
rs1197072793
665 Q>R No ClinGen
gnomAD
CA5108880
rs61730257
666 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA195544901
rs951148608
667 K>E No ClinGen
TOPMed
CA195544896
rs750182955
668 D>E No ClinGen
ExAC
gnomAD
rs750535574
CA5108878
669 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA373951786
rs1222872319
669 D>H No ClinGen
gnomAD
rs765344226
CA5108877
670 K>E No ClinGen
ExAC
gnomAD
CA373951763
rs1164394302
670 K>T No ClinGen
TOPMed
rs762362699
CA5108876
671 L>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 672 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs118052854
CA5108875
673 N>H No ClinGen
1000Genomes
ExAC
gnomAD
CA373951641
rs1587941110
676 L>F No ClinGen
Ensembl
rs764516147
CA5108874
676 L>W No ClinGen
ExAC
gnomAD
rs193087051
CA195544886
677 A>V No ClinGen
1000Genomes
TOPMed
gnomAD
CA195544880
rs372076741
679 G>R No ClinGen
ESP
CA373951585
rs1409673791
680 P>L No ClinGen
gnomAD
CA373951551
rs767584897
684 S>G No ClinGen
gnomAD
CA5108873
rs760952752
684 S>I No ClinGen
ExAC
gnomAD
rs767584897
CA195544877
684 S>R No ClinGen
gnomAD
rs775227185
CA5108872
686 A>P No ClinGen
ExAC
gnomAD
CA195544872
rs997888763
688 N>D No ClinGen
TOPMed
gnomAD
CA5108870
rs188666254
690 C>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1297487272
CA373951311
691 K>R No ClinGen
TOPMed
rs773966263
CA5108869
692 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1232307502
CA373951220
695 L>F No ClinGen
TOPMed
CA5108868
rs770612785
696 T>N No ClinGen
ExAC
gnomAD
CA5108867
rs749235332
697 L>V No ClinGen
ExAC
gnomAD
TCGA novel 699 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777634187
CA5108866
700 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs777634187
CA373951112
700 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA373951094
rs1472172130
701 A>G No ClinGen
gnomAD
rs747906637
CA5108864
702 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA373951063
rs1438278549
703 S>G No ClinGen
gnomAD
CA373951048
rs1277316233
703 S>R No ClinGen
TOPMed
gnomAD
CA373951026
rs1198161562
704 F>C No ClinGen
gnomAD
CA5108862
rs758591070
710 E>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 714 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA373950808
rs1349061931
716 H>Y No ClinGen
gnomAD
rs1018490496
CA195544793
718 S>I No ClinGen
Ensembl
TCGA novel 718 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA195544795
rs964278797
718 S>R No ClinGen
Ensembl
CA373950765
rs1332275311
719 V>I No ClinGen
gnomAD
rs1485816752
CA373950742
720 H>Q No ClinGen
TOPMed
CA5108859
rs757350270
721 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs754305044
CA5108858
722 E>K No ClinGen
ExAC
gnomAD
CA5108857
rs143252253
724 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1178667021
CA373950674
CA373950675
725 D>E No ClinGen
gnomAD
CA589123149
rs1409520730
725 D>V No ClinGen
gnomAD
rs1488786660
CA373950635
728 Q>P No ClinGen
TOPMed
CA195544774
rs1005722206
730 D>A No ClinGen
Ensembl
rs1470474774
CA373950591
731 V>D No ClinGen
TOPMed
gnomAD
rs61744147
CA5108854
737 K>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs934612334
CA195544767
741 V>I No ClinGen
TOPMed
CA5108853
rs759241641
742 Y>F No ClinGen
ExAC
gnomAD
CA373950441
rs1462304593
742 Y>H No ClinGen
gnomAD
rs770466734
CA373950402
744 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA5108851
rs770466734
744 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5108849
rs773140978
745 E>G No ClinGen
ExAC
gnomAD
CA5108850
rs762371432
745 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA5108848
rs769638972
746 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA373950343
rs1361414375
749 K>E No ClinGen
TOPMed
gnomAD
TCGA novel 750 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768500733
CA5108845
751 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs776390996
CA5108846
751 E>K No ClinGen
ExAC
gnomAD
rs576337306
CA5108844
752 K>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 753 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA373950251
rs1356943982
759 G>D No ClinGen
TOPMed
CA373950238
rs1228448033
761 H>Y No ClinGen
TOPMed
TCGA novel 764 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5108839
rs778305965
766 D>N No ClinGen
ExAC
gnomAD
CA5108838
rs756545766
767 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA5108837
rs753304576
769 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA5108836
rs767979913
769 R>H No ClinGen
ExAC
gnomAD
rs1243553679
CA373950182
770 G>R No ClinGen
gnomAD
CA5108834
rs751186781
771 E>D No ClinGen
ExAC
gnomAD
CA373950173
rs1451437826
771 E>G No ClinGen
gnomAD
CA5108835
rs755460109
771 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs776808343
CA195544665
772 H>L No ClinGen
ExAC
gnomAD
rs776808343
CA5108833
772 H>P No ClinGen
ExAC
gnomAD
rs762472970
CA5108832
772 H>Q No ClinGen
ExAC
gnomAD
rs776808343
CA373950167
772 H>R No ClinGen
ExAC
gnomAD
rs761801797
CA195544647
774 V>F No ClinGen
Ensembl
CA373950151
rs916094979
775 C>S No ClinGen
TOPMed
gnomAD
rs916094979
CA195544643
775 C>Y No ClinGen
TOPMed
gnomAD
rs556235880
CA373950135
CA5108831
777 S>R No ClinGen
1000Genomes
ExAC
gnomAD
rs764854115
CA5108830
778 T>P No ClinGen
ExAC
TOPMed
gnomAD
COSM1110768
CA5108829
rs761728890
779 R>C Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA5108828
rs375726501
779 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5108827
rs143857116
780 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs982421973
CA195544618
787 L>W No ClinGen
TOPMed
gnomAD
CA5108825
rs774584682
789 L>S No ClinGen
ExAC
gnomAD
CA195544612
rs951090639
790 E>G No ClinGen
TOPMed
rs749563275
CA5108823
791 G>A No ClinGen
ExAC
gnomAD
TCGA novel 791 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA195544609
rs948000856
792 F>L No ClinGen
gnomAD
rs1390660170
CA373950007
797 A>T No ClinGen
gnomAD
TCGA novel 797 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1186778073
CA373949997
798 K>E No ClinGen
gnomAD
TCGA novel 799 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777691353
CA5108822
800 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs1380804842
CA373949919
803 L>P No ClinGen
TOPMed
CA373949908
rs1225104569
804 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA5108821
rs149644302
806 L>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA195544591
rs781764595
807 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA5108819
rs781764595
807 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA5108820
rs781764595
807 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs371448305
CA5108818
CA373949857
808 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 808 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1309378638
CA373949849
809 K>T No ClinGen
gnomAD
rs1296336068
CA373949831
810 A>G No ClinGen
gnomAD
rs751992086
CA5108817
811 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA373949812
rs1297204331
812 L>I No ClinGen
TOPMed
rs1018541613
CA195544576
812 L>R No ClinGen
TOPMed
gnomAD
rs766013413
CA5108816
813 D>G No ClinGen
ExAC
gnomAD
rs757967439
CA5108815
814 G>E No ClinGen
ExAC
gnomAD
TCGA novel 817 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA373949738
rs1406609969
817 T>I No ClinGen
gnomAD
CA5108814
rs750150701
818 E>V No ClinGen
ExAC
gnomAD
rs556349133
CA5108812
819 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs368747887
CA5108813
819 G>S No ClinGen
ESP
ExAC
gnomAD
CA373949713
rs556349133
819 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs768097210
CA373949712
820 T>A No ClinGen
TOPMed
gnomAD
CA195544557
rs768097210
820 T>P No ClinGen
TOPMed
gnomAD
rs764044754
CA5108810
821 E>G No ClinGen
ExAC
gnomAD
CA373949679
rs1422705600
823 L>P No ClinGen
gnomAD
rs775118718
CA5108808
825 D>G No ClinGen
ExAC
gnomAD
CA5108809
rs202050130
825 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA373949658
rs1278641280
826 S>F No ClinGen
TOPMed
CA5108806
rs763069281
829 H>Y No ClinGen
ExAC
gnomAD
CA373949625
rs1251978084
831 T>S No ClinGen
gnomAD
CA5108803
rs748251283
832 H>Q No ClinGen
ExAC
gnomAD
CA5108804
rs769924592
832 H>R No ClinGen
ExAC
gnomAD
CA5108802
rs781745650
835 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA5108801
rs769316272
836 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs769316272
CA373949594
836 G>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 841 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA373949563
rs1287435130
841 M>V No ClinGen
gnomAD
CA5108800
rs747589523
844 S>A No ClinGen
ExAC
gnomAD
rs1375359704
CA373949530
846 E>K No ClinGen
gnomAD
rs147535547
CA5108797
849 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1356909670
CA373949503
849 E>G No ClinGen
gnomAD
CA195544497
rs923770254
849 E>K No ClinGen
Ensembl
RCV000901250
rs139212809
CA5108794
851 D>N No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs915975237
CA195544450
852 E>A No ClinGen
TOPMed
CA373949480
rs1421403079
852 E>D No ClinGen
gnomAD
rs1157322504
CA373949485
852 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA195544447
rs191736673
854 E>V No ClinGen
1000Genomes
gnomAD
rs1181775354
CA373949460
855 E>A No ClinGen
TOPMed
gnomAD
rs1181775354
CA373949458
855 E>V No ClinGen
TOPMed
gnomAD
rs1369528075
CA373949428
859 E>A No ClinGen
TOPMed
CA373949430
rs1331459283
859 E>Q No ClinGen
TOPMed
rs371362648
CA5108789
860 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs371362648
CA373949419
860 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1301815167
CA373949415
861 R>T No ClinGen
TOPMed
CA373949409
rs1204574963
862 L>F No ClinGen
gnomAD
rs1370240552
CA373949408
862 L>P No ClinGen
TOPMed
CA373949395
rs1267267779
864 I>M No ClinGen
gnomAD
CA195544429
rs983028825
864 I>T No ClinGen
TOPMed
rs781492162
CA195544436
864 I>V No ClinGen
gnomAD
CA5108788
rs370511325
865 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1200692884
CA373949376
867 R>K No ClinGen
TOPMed
CA373949372
rs1258795873
868 E>K No ClinGen
TOPMed
rs1468055509
CA373949348
871 D>N No ClinGen
TOPMed
CA373949331
rs1211798221
873 M>T No ClinGen
TOPMed
CA5108787
rs200304124
873 M>V No ClinGen
1000Genomes
ExAC
gnomAD
CA5108786
rs752735259
874 A>D No ClinGen
ExAC
CA195544402
rs376190058
875 N>D No ClinGen
ESP
TOPMed
gnomAD
CA373949320
rs376190058
875 N>H No ClinGen
ESP
TOPMed
gnomAD
rs1478273989
CA373949297
878 E>Q No ClinGen
TOPMed
CA373949276
rs1587938203
880 D>E No ClinGen
Ensembl
TCGA novel 882 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs953004337
CA195544393
883 Y>H No ClinGen
Ensembl
CA5108783
rs773250617
884 T>P No ClinGen
ExAC
gnomAD
CA373949234
rs1387370224
887 G>E No ClinGen
gnomAD
CA373949232
rs1387370224
887 G>V No ClinGen
gnomAD
rs770162712
CA5108782
888 D>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 890 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776819297
CA5108780
890 D>V No ClinGen
ExAC
gnomAD
CA5108781
rs761943014
890 D>Y No ClinGen
ExAC
gnomAD
CA373949207
rs1387179481
891 A>G No ClinGen
gnomAD
CA195544343
rs879758874
891 A>T No ClinGen
TOPMed
gnomAD
CA373949205
rs1464499747
892 L>V No ClinGen
TOPMed
gnomAD
CA373949199
rs1207097713
893 S>P No ClinGen
gnomAD
rs1261054340
CA373949185
895 E>K No ClinGen
gnomAD
CA373949181
rs1352116791
895 E>V No ClinGen
TOPMed
TCGA novel 898 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 898 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5108777
rs772267345
900 G>A No ClinGen
ExAC
TOPMed
gnomAD
COSM1463432
CA5108776
rs772267345
900 G>D large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs756875035
CA5108773
901 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA373949132
rs747555350
902 A>G No ClinGen
TOPMed
gnomAD
CA195544268
rs747555350
902 A>V No ClinGen
TOPMed
gnomAD
rs753541405
CA5108772
905 Y>C No ClinGen
ExAC
gnomAD
TCGA novel 906 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs139228339
CA5108770
908 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA195544231
rs758466847
909 K>E No ClinGen
Ensembl
TCGA novel 910 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752505984
CA5108769
914 H>P No ClinGen
ExAC
gnomAD
rs754679699
CA5108767
914 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5108765
rs552232426
920 L>P No ClinGen
1000Genomes
ExAC
gnomAD
rs762102469
CA5108764
922 E>D No ClinGen
ExAC
gnomAD
TCGA novel 924 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1017988349
CA5108762
926 I>T No ClinGen
TOPMed
gnomAD
rs764204995
CA5108760
927 S>N No ClinGen
ExAC
gnomAD
rs1262181711
CA373948959
928 L>F No ClinGen
gnomAD
CA5108759
rs760822939
929 K>N No ClinGen
ExAC
gnomAD
rs775812052
CA373948915
934 C>S No ClinGen
ExAC
TOPMed
gnomAD
rs775812052
CA5108758
934 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1223102393
CA373948899
936 E>G No ClinGen
gnomAD
CA195544170
rs75851694
937 K>E No ClinGen
ESP
TOPMed
CA195544167
COSM3774389
rs77621374
937 K>N kidney [Cosmic] No ClinGen
cosmic curated
Ensembl
CA5108756
rs746406782
938 N>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 939 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA195544136
rs1030833132
940 P>R No ClinGen
TOPMed
gnomAD
CA373948874
rs1326586216
940 P>S No ClinGen
gnomAD
rs771345012
CA5108753
941 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA195544129
rs373223762
942 D>Y No ClinGen
ESP
TOPMed
rs1347757561
CA373948854
943 Q>L No ClinGen
gnomAD
TCGA novel 946 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751076382 948 Y>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs751076382 948 Y>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA5108750
rs748932794
951 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA373948784
rs1394450253
952 K>T No ClinGen
gnomAD
CA5108748
rs140976292
954 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA373948719
rs1169669115
959 K>Q No ClinGen
gnomAD
rs1401552190
CA373948640
960 S>C No ClinGen
TOPMed
gnomAD
rs1325181131
CA373948630
961 P>R No ClinGen
TOPMed
rs1174600730
CA373948625
962 T>A No ClinGen
gnomAD
CA373948619
rs574993579
962 T>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5108728
rs574993579
962 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1216437890
CA373948612
963 V>L No ClinGen
TOPMed
rs780729851
CA5108726
964 V>A No ClinGen
ExAC
gnomAD
CA5108725
rs61742249
966 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA373948529
rs1183876167
967 L>F No ClinGen
TOPMed
gnomAD
rs758220164
CA5108722
969 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs750274866
CA5108721
970 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5108720
rs778618241
971 E>A No ClinGen
ExAC
gnomAD
rs568993501
CA5108719
971 E>D No ClinGen
1000Genomes
ExAC
gnomAD
COSM1314997
CA373948432
rs1228233994
972 G>C Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
TCGA novel 974 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5108718
rs752923002
976 K>E No ClinGen
ExAC
gnomAD
rs1240345863
CA373948371
976 K>R No ClinGen
gnomAD
CA373948360
rs1587935655
977 D>A No ClinGen
Ensembl
rs1587935674
CA373948365
977 D>N No ClinGen
Ensembl
TCGA novel 977 D>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA373948343
rs1339977579
978 C>S No ClinGen
gnomAD
TCGA novel 979 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5108717
rs767632661
979 P>S No ClinGen
ExAC
gnomAD
TCGA novel 981 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA373948251
rs1320129885
985 I>N No ClinGen
TOPMed
gnomAD
rs759537086
CA5108716
985 I>V No ClinGen
ExAC
gnomAD
CA373948207
rs1587935563
988 E>D No ClinGen
Ensembl
rs752003347
CA5108715
989 P>R No ClinGen
ExAC
gnomAD
rs1399944850
CA373948199
989 P>S No ClinGen
TOPMed
gnomAD
rs1399944850
CA373948203
989 P>T No ClinGen
TOPMed
gnomAD
TCGA novel 990 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 992 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766889476
CA5108714
994 T>A No ClinGen
ExAC
gnomAD
rs1032286989
CA195543788
996 K>R No ClinGen
TOPMed
gnomAD
COSM1463430
CA195543789
rs1032286989
996 K>T large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA5108713
rs763263391
997 F>L No ClinGen
ExAC
rs1181143633
CA373948083
999 N>T No ClinGen
gnomAD
CA373948068
rs1426007213
1000 I>T No ClinGen
TOPMed
rs1478225661
CA373948032
1003 Q>E No ClinGen
TOPMed
CA5108712
rs773534348
1005 C>Y No ClinGen
ExAC
gnomAD
rs368677840
CA373947970
1007 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1409146270
CA373947746
1011 D>Y No ClinGen
TOPMed
rs1216866826
CA373947723
1012 F>S No ClinGen
gnomAD
CA5108692
rs750947417
1014 P>S No ClinGen
ExAC
gnomAD
rs1272322254
CA373947651
1017 I>M No ClinGen
gnomAD
rs1360297455
CA373947654
1017 I>T No ClinGen
gnomAD
rs577539994
CA5108691
1017 I>V No ClinGen
1000Genomes
ExAC
gnomAD
rs762099737
CA5108690
1019 D>V No ClinGen
ExAC
gnomAD
CA5108689
rs776300053
1020 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA5108688
rs768224224
1024 H>R No ClinGen
ExAC
rs775121151
CA5108686
1025 I>T No ClinGen
ExAC
gnomAD
rs760444301
CA5108687
1025 I>V No ClinGen
ExAC
gnomAD
CA373947534
rs1344609301
1026 R>W No ClinGen
gnomAD
CA5108685
rs771769574
1033 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs770698141
CA5108682
1036 D>E No ClinGen
ExAC
gnomAD
CA5108683
rs190240395
1036 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA373947454
rs1343068976
1037 F>I No ClinGen
TOPMed
CA373947446
rs1186723247
1038 P>T No ClinGen
gnomAD
rs1205797370
CA373947423
1039 G>A No ClinGen
gnomAD
rs372132597
CA5108672
1040 T>A No ClinGen
ESP
ExAC
gnomAD
rs1398045027
CA373947379
1046 G>R No ClinGen
TOPMed
CA5108671
rs140358646
1049 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1178951988
CA373947344
1051 G>E No ClinGen
gnomAD
rs764605874
CA5108669
1056 Q>K No ClinGen
ExAC
gnomAD
CA5108668
rs374441993
1059 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372797741
CA5108667
1061 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA373947169
rs1481680445
1064 T>A No ClinGen
gnomAD
TCGA novel 1065 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767072002
CA5108666
1065 I>V No ClinGen
ExAC
gnomAD
rs192361493
CA5108655
1077 V>I No ClinGen
1000Genomes
ExAC
gnomAD
CA5108654
rs757683426
1079 T>S No ClinGen
ExAC
gnomAD
rs1204513985
CA373946639
1084 A>T No ClinGen
gnomAD
TCGA novel 1086 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1094 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1428082460
CA373946142
1096 I>T No ClinGen
TOPMed
gnomAD
rs201124820
CA195537066
1096 I>V No ClinGen
1000Genomes
rs369993282
CA195537060
1098 P>S No ClinGen
ESP
TOPMed
CA5108637
rs771112934
1100 T>A No ClinGen
ExAC
gnomAD
rs749692944
CA5108636
1100 T>I No ClinGen
ExAC
gnomAD
TCGA novel 1111 H>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA373946036
rs1356680304
1112 L>F No ClinGen
gnomAD
CA5108634
rs756495515
1112 L>S No ClinGen
ExAC
TOPMed
gnomAD
CA195537055
rs756495515
1112 L>W No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1117 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753140997
CA5108633
1120 I>S No ClinGen
ExAC
gnomAD
CA195537040
rs267602298
1122 L>* No ClinGen
Ensembl
CA373945867
rs1175355934
1135 S>C No ClinGen
gnomAD
rs377377386
CA195536718
1136 A>S No ClinGen
ESP
CA5108610
rs781677692
1139 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA195536709
rs766442377
1140 I>V No ClinGen
TOPMed
gnomAD
rs1247754608
CA373945827
1142 P>T No ClinGen
gnomAD
TCGA novel 1148 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755436118
CA5108609
1155 T>A No ClinGen
ExAC
gnomAD
CA373945726
rs1326079400
1156 K>Q No ClinGen
gnomAD
rs1354766288
CA373945702
1157 M>I No ClinGen
gnomAD
CA5108589
rs747422258
1157 M>T No ClinGen
ExAC
gnomAD
rs780322849
CA5108588
1160 I>T No ClinGen
ExAC
gnomAD
CA373945649
rs1229683328
1165 R>K No ClinGen
TOPMed
CA373945612
rs1160363389
1170 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1382775151
CA373945616
1170 S>T No ClinGen
gnomAD
TCGA novel 1177 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5108583
rs753720708
1188 V>I No ClinGen
ExAC
gnomAD
rs1288840786
CA373945486
1189 I>V No ClinGen
gnomAD
TCGA novel 1193 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5108563
rs777185017
1196 Y>F No ClinGen
ExAC
gnomAD
CA373945398
rs1279797946
1200 K>E No ClinGen
gnomAD
rs1454600379
CA373945367
1204 I>V No ClinGen
TOPMed
rs756052229
CA5108562
1207 D>G No ClinGen
ExAC
gnomAD
CA195536438
rs965069825
1207 D>H No ClinGen
TOPMed
rs752632467
CA5108561
1208 G>V No ClinGen
ExAC
gnomAD
rs1301200076
CA373945326
1210 N>D No ClinGen
gnomAD
rs767336256
CA5108560
1211 I>T No ClinGen
ExAC
rs74799011
CA195536434
1215 D>Y No ClinGen
Ensembl
CA373945274
rs1388022973
1217 I>V No ClinGen
TOPMed
CA5108559
rs555488738
1218 D>H No ClinGen
1000Genomes
ExAC
gnomAD
rs749080608
CA5108547
1222 T>I No ClinGen
ExAC
gnomAD
rs1020723279
CA195536127
1223 Y>C No ClinGen
TOPMed
CA373945193
rs1587884316
1227 C>R No ClinGen
Ensembl
rs1175619896
CA373945182
1228 G>A No ClinGen
TOPMed
gnomAD
TCGA novel 1230 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1232 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1441603993
CA373945158
1232 E>K No ClinGen
gnomAD
TCGA novel 1233 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1239065453
CA373945149
1233 S>P No ClinGen
gnomAD
CA5108545
rs562452720
1234 V>A No ClinGen
1000Genomes
ExAC
gnomAD
CA5108541
COSM176657
rs751431949
1243 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA5108540
rs41283659
1243 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA373945059
COSM1173523
rs1237388155
1246 T>I oesophagus [Cosmic] No ClinGen
cosmic curated
gnomAD
rs199711858
CA5108539
1248 E>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5108538
rs754076671
1252 K>N No ClinGen
ExAC
gnomAD
TCGA novel 1252 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA195536090
rs960875330
1258 I>V No ClinGen
TOPMed
rs1304893643
CA373944947
1262 S>R No ClinGen
gnomAD
CA5108535
rs143293008
1270 Q>E No ClinGen
ESP
ExAC
gnomAD
CA5108534
rs768046984
1276 I>F No ClinGen
ExAC
gnomAD
rs768046984
CA373944847
1276 I>V No ClinGen
ExAC
gnomAD
CA373956191
rs1276633499
1285 N>S No ClinGen
gnomAD
rs866547610
CA195544637
1294 R>G No ClinGen
Ensembl
rs1398456206
CA373955864
1297 T>A No ClinGen
gnomAD
CA373955856
rs1333596798
1298 N>D No ClinGen
gnomAD
CA5108493
rs765682917
1301 M>V No ClinGen
ExAC
gnomAD
CA373955739
rs1447446170
1303 A>S No ClinGen
TOPMed
CA5108492
rs556996114
1305 I>V No ClinGen
1000Genomes
ExAC
gnomAD
CA5108491
rs776429047
1309 R>G No ClinGen
ExAC
TCGA novel 1315 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5108490
rs763640710
1317 G>R No ClinGen
ExAC
gnomAD
rs760286653
CA5108489
1319 P>S No ClinGen
ExAC
gnomAD
CA373955320
rs1199038765
1326 M>V No ClinGen
gnomAD
TCGA novel 1326 M>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776791684
CA5108459
1330 F>C No ClinGen
ExAC
gnomAD
rs768834150
CA5108458
1331 D>Y No ClinGen
ExAC
rs779983516
CA373954918
1340 L>P No ClinGen
ExAC
gnomAD
rs779983516
CA5108456
1340 L>Q No ClinGen
ExAC
gnomAD
rs1296217626
CA373954897
1343 N>K No ClinGen
TOPMed
gnomAD
rs1381727257
CA373954892
1344 D>G No ClinGen
TOPMed
TCGA novel 1344 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779498023
CA5108453
1353 I>V No ClinGen
ExAC
gnomAD
rs754226413
CA5108451
1354 G>R No ClinGen
ExAC
gnomAD
rs778335133
CA5108450
1356 F>L No ClinGen
ExAC
gnomAD
CA373954804
rs1333921514
1357 M>V No ClinGen
TOPMed
CA373954761
rs1193594513
1362 M>I No ClinGen
gnomAD
CA373954766
rs752465514
1362 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA5108448
rs752465514
1362 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA373954756
rs1468242400
1363 R>K No ClinGen
gnomAD
CA5108447
rs766868268
1365 K>R No ClinGen
ExAC
gnomAD
rs756546971
CA5108432
1366 V>A No ClinGen
ExAC
gnomAD
CA5108430
rs529420813
1368 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs752229778
CA5108431
1368 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs570757211
CA5108428
1369 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs754403647
CA5108429
1369 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1277431098
CA373954706
1370 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs200163022
CA5108427
1370 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA373954680
rs1219633752
1372 Q>P No ClinGen
TOPMed
CA195542823
rs1020800934
1373 E>K No ClinGen
TOPMed
CA5108426
rs150932248
1374 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs150932248
CA373954648
1374 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5108425
rs750427384
1375 A>S No ClinGen
ExAC
gnomAD
CA195542798
rs750056727
1376 L>P No ClinGen
Ensembl
rs1366311845
CA373954613
1377 N>S No ClinGen
TOPMed
gnomAD
rs1437984771
CA373954603
1378 Q>* No ClinGen
gnomAD
rs761690761
CA5108423
1378 Q>L No ClinGen
ExAC
gnomAD
CA5108422
rs775536141
1381 P>A No ClinGen
ExAC
gnomAD
CA195542781
rs775536141
1381 P>T No ClinGen
ExAC
gnomAD
rs759728713
CA5108420
1382 E>Q No ClinGen
ExAC
gnomAD
rs1374340732
CA373954526
1383 N>K No ClinGen
TOPMed
gnomAD
rs774563044
CA5108419
1385 E>Q No ClinGen
ExAC
gnomAD
rs771205476
CA5108418
1386 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA195542752
rs757682777
1387 R>T No ClinGen
Ensembl
CA373954456
rs1193046883
1388 S>R No ClinGen
gnomAD
rs1450686247
CA373954421
1391 D>Y No ClinGen
TOPMed
gnomAD
rs752176398
CA195542747
1392 K>R No ClinGen
gnomAD
rs956667164
CA195542744
1393 E>G No ClinGen
Ensembl
CA373954360
rs1587861063
1394 I>T No ClinGen
Ensembl
CA373954352
rs773864313
1395 H>N No ClinGen
ExAC
gnomAD
CA5108416
rs773864313
1395 H>Y No ClinGen
ExAC
gnomAD
rs866247183
CA195542738
1396 N>D No ClinGen
Ensembl
rs1000828722
CA195542722
1398 Y>N No ClinGen
Ensembl
COSM1110760
rs1456291217
CA373954236
1399 T>I Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1287373208
CA373954190
1401 R>G No ClinGen
TOPMed
rs76212915
CA195542711
1401 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
CA5108413
rs76212915
1401 R>T No ClinGen
ESP
ExAC
CA373954152
rs1587860885
1403 V>G No ClinGen
Ensembl
rs1205145141
CA373954160
1403 V>M No ClinGen
gnomAD
rs1587860840
CA373954113
1405 T>K No ClinGen
Ensembl
CA5108410
rs754637918
1409 K>E No ClinGen
ExAC
gnomAD
rs757908948
CA5108407
1411 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1444058284
CA373953977
1412 Q>R No ClinGen
TOPMed
gnomAD
rs564674138
CA5108405
1414 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 1415 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1362500177
CA373953923
1415 P>S No ClinGen
gnomAD
rs757180847
CA5108404
1417 K>N No ClinGen
ExAC
TOPMed
CA373953800
rs1447742970
1419 K>N No ClinGen
gnomAD
CA373953797
rs1161753319
1420 P>T No ClinGen
gnomAD
rs901993371
CA373953766
1421 M>L No ClinGen
TOPMed
gnomAD
CA195542662
rs901993371
1421 M>V No ClinGen
TOPMed
gnomAD
CA195542660
rs201306794
1422 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA5108402
rs201306794
1422 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs148400661
CA5108403
1422 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1005518529
CA195542657
1425 A>V No ClinGen
Ensembl
rs774714607
CA5108400
1427 L>Q No ClinGen
ExAC
gnomAD
CA373953611
rs1177631882
1428 G>E No ClinGen
gnomAD
TCGA novel 1430 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763152242
CA5108398
1432 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA373953524
rs1564028526
1432 I>T No ClinGen
Ensembl
TCGA novel 1433 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5108395
rs770307301
1434 R>K No ClinGen
ExAC
gnomAD
rs1284602591
CA373953447
1435 P>L No ClinGen
TOPMed
gnomAD
CA373953421
rs1237320823
1436 P>R No ClinGen
gnomAD
rs541050358
CA5108394
1437 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 1439 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1440 W>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA373953349
rs1307234433
1440 W>R No ClinGen
gnomAD
rs746971309
CA195542645
1442 R>K No ClinGen
Ensembl
rs1411522134
CA373953218
1445 D>E No ClinGen
TOPMed
CA5108393
rs61749485
1446 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1459682917
CA373953155
1448 L>* No ClinGen
gnomAD
rs1377375061
CA373953146
CA373953149
1448 L>F No ClinGen
TOPMed
gnomAD
rs947853078
CA195542626
1449 R>K No ClinGen
TOPMed
gnomAD
rs768970038
CA5108392
1450 E>G No ClinGen
ExAC
gnomAD
CA5108391
rs746598524
1452 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA5108390
rs779703706
1452 R>H No ClinGen
ExAC
gnomAD
rs1379202532
CA373952968
1455 I>T No ClinGen
TOPMed
CA5108388
rs745350559
1456 C>G No ClinGen
ExAC
gnomAD
TCGA novel 1458 R>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA373952835
rs1183541238
1459 E>D No ClinGen
gnomAD
CA5108386
rs757202943
1459 E>K No ClinGen
ExAC
gnomAD
rs917719398
CA195542594
1465 E>K No ClinGen
TOPMed
gnomAD
CA373952630
rs1213885128
1468 Q>E No ClinGen
gnomAD
rs1286001048
CA373952531
1472 S>F No ClinGen
TOPMed
CA5108384
rs777553227
1473 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs755936719
CA5108366
1475 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA373949980
rs755936719
1475 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA195536618
rs1029953046
1478 S>N No ClinGen
Ensembl
rs752513244
CA5108364
1479 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs758681837
CA5108362
1480 Y>C No ClinGen
ExAC
rs758681837
CA5108363
1480 Y>S No ClinGen
ExAC
TCGA novel 1481 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs143296210
CA5108360
1481 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5108359
rs765295889
1486 A>T No ClinGen
ExAC
gnomAD
rs1463398626
CA373949823
1487 S>T No ClinGen
gnomAD
rs368748794
CA195536593
1488 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs761811843
CA5108358
1488 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA5108357
rs368748794
1488 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1244091055
CA373949777
1490 R>S No ClinGen
gnomAD
TCGA novel 1491 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA373949735
rs1292829979
1493 Q>H No ClinGen
TOPMed
CA195536583
rs1015072056
1493 Q>K No ClinGen
Ensembl
rs761217897
CA5108355
1495 S>* No ClinGen
ExAC
gnomAD

No associated diseases with Q5VYS8

8 regional properties for Q5VYS8

Type Name Position InterPro Accession
domain Zinc finger, CCHC-type 964 - 980 IPR001878-1
domain Zinc finger, CCHC-type 1346 - 1362 IPR001878-2
domain Zinc finger, CCHC-type 1452 - 1468 IPR001878-3
domain PAP/25A-associated 551 - 600 IPR002058-1
domain PAP/25A-associated 1233 - 1286 IPR002058-2
domain Matrin/U1-C-like, C2H2-type zinc finger 241 - 275 IPR003604
domain TUTase nucleotidyltransferase domain 195 - 411 IPR045100-1
domain TUTase nucleotidyltransferase domain 971 - 1117 IPR045100-2

Functions

Description
EC Number 2.7.7.52 Nucleotidyltransferases
Subcellular Localization
  • Cytoplasm
  • Expression is pancytoplasmic in contrast with TUT4 expression which is enriched in cytoplasmic ribonucleoprotein granules
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.

6 GO annotations of molecular function

Name Definition
miRNA binding Binding to a microRNA, a 21-23 nucleotide RNA that is processed from a stem-loop RNA precursor (pre-miRNA) that is encoded within plant and animal genomes.
nucleotidyltransferase activity Catalysis of the transfer of a nucleotidyl group to a reactant.
RNA binding Binding to an RNA molecule or a portion thereof.
RNA uridylyltransferase activity Catalysis of the reaction: UTP + RNA(n) = diphosphate + RNA(n+1).
uridylyltransferase activity Catalysis of the transfer of an uridylyl group to an acceptor.
zinc ion binding Binding to a zinc ion (Zn).

8 GO annotations of biological process

Name Definition
miRNA metabolic process The chemical reactions and pathways involving miRNA, microRNA, a class of single-stranded RNA molecules of about 21-23 nucleotides in length, which regulates gene expression.
negative regulation of transposition, RNA-mediated Any process that decreases the frequency, rate or extent of RNA-mediated transposition. RNA-mediated transposition is a type of transpositional recombination which occurs via an RNA intermediate.
nuclear-transcribed mRNA poly(A) tail shortening Shortening of the poly(A) tail of a nuclear-transcribed mRNA from full length to an oligo(A) length.
oocyte maturation A developmental process, independent of morphogenetic (shape) change, that is required for an oocyte to attain its fully functional state. Oocyte maturation commences after reinitiation of meiosis commonly starting with germinal vesicle breakdown, and continues up to the second meiotic arrest prior to fertilization.
polyuridylation-dependent mRNA catabolic process The chemical reactions and pathways resulting in the breakdown of a messenger RNA (mRNA) molecule, initiated by the enzymatic addition of a sequence of uridylyl residues (polyuridylation) at the 3' end of the target mRNA.
pre-miRNA processing A process involved in the conversion of a pre-microRNA transcript into a mature microRNA molecule.
RNA 3' uridylation The enzymatic addition of a sequence of uridylyl residues at the 3' end of an RNA molecule.
RNA 3'-end processing Any process involved in forming the mature 3' end of an RNA molecule.

5 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q5BLK4 Tut7 Terminal uridylyltransferase 7 Mus musculus (Mouse) PR
A8WHT1 C53A5.17 tRNA (guanine(37)-N1)-methyltransferase Caenorhabditis elegans PR
Q5XET5 HESO1 Protein HESO1 Arabidopsis thaliana (Mouse-ear cress) PR
Q0VFA3 tent2 Poly(A) RNA polymerase GLD2 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q503I9 tent2 Poly(A) RNA polymerase GLD2 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MGDTAKPYFV KRTKDRGTMD DDDFRRGHPQ QDYLIIDDHA KGHGSKMEKG LQKKKITPGN
70 80 90 100 110 120
YGNTPRKGPC AVSSNPYAFK NPIYSQPAWM NDSHKDQSKR WLSDEHTGNS DNWREFKPGP
130 140 150 160 170 180
RIPVINRQRK DSFQENEDGY RWQDTRGCRT VRRLFHKDLT SLETTSEMEA GSPENKKQRS
190 200 210 220 230 240
RPRKPRKTRN EENEQDGDLE GPVIDESVLS TKELLGLQQA EERLKRDCID RLKRRPRNYP
250 260 270 280 290 300
TAKYTCRLCD VLIESIAFAH KHIKEKRHKK NIKEKQEEEL LTTLPPPTPS QINAVGIAID
310 320 330 340 350 360
KVVQEFGLHN ENLEQRLEIK RIMENVFQHK LPDCSLRLYG SSCSRLGFKN SDVNIDIQFP
370 380 390 400 410 420
AIMSQPDVLL LVQECLKNSD SFIDVDADFH ARVPVVVCRE KQSGLLCKVS AGNENACLTT
430 440 450 460 470 480
KHLTALGKLE PKLVPLVIAF RYWAKLCSID RPEEGGLPPY VFALMAIFFL QQRKEPLLPV
490 500 510 520 530 540
YLGSWIEGFS LSKLGNFNLQ DIEKDVVIWE HTDSAAGDTG ITKEEAPRET PIKRGQVSLI
550 560 570 580 590 600
LDVKHQPSVP VGQLWVELLR FYALEFNLAD LVISIRVKEL VSRELKDWPK KRIAIEDPYS
610 620 630 640 650 660
VKRNVARTLN SQPVFEYILH CLRTTYKYFA LPHKITKSSL LKPLNAITCI SEHSKEVINH
670 680 690 700 710 720
HPDVQTKDDK LKNSVLAQGP GATSSAANTC KVQPLTLKET AESFGSPPKE EMGNEHISVH
730 740 750 760 770 780
PENSDCIQAD VNSDDYKGDK VYHPETGRKN EKEKVGRKGK HLLTVDQKRG EHVVCGSTRN
790 800 810 820 830 840
NESESTLDLE GFQNPTAKEC EGLATLDNKA DLDGESTEGT EELEDSLNHF THSVQGQTSE
850 860 870 880 890 900
MIPSDEEEED DEEEEEEEEP RLTINQREDE DGMANEDELD NTYTGSGDED ALSEEDDELG
910 920 930 940 950 960
EAAKYEDVKE CGKHVERALL VELNKISLKE ENVCEEKNSP VDQSDFFYEF SKLIFTKGKS
970 980 990 1000 1010 1020
PTVVCSLCKR EGHLKKDCPE DFKRIQLEPL PPLTPKFLNI LDQVCIQCYK DFSPTIIEDQ
1030 1040 1050 1060 1070 1080
AREHIRQNLE SFIRQDFPGT KLSLFGSSKN GFGFKQSDLD VCMTINGLET AEGLDCVRTI
1090 1100 1110 1120 1130 1140
EELARVLRKH SGLRNILPIT TAKVPIVKFF HLRSGLEVDI SLYNTLALHN TRLLSAYSAI
1150 1160 1170 1180 1190 1200
DPRVKYLCYT MKVFTKMCDI GDASRGSLSS YAYTLMVLYF LQQRNPPVIP VLQEIYKGEK
1210 1220 1230 1240 1250 1260
KPEIFVDGWN IYFFDQIDEL PTYWSECGKN TESVGQLWLG LLRFYTEEFD FKEHVISIRR
1270 1280 1290 1300 1310 1320
KSLLTTFKKQ WTSKYIVIED PFDLNHNLGA GLSRKMTNFI MKAFINGRRV FGIPVKGFPK
1330 1340 1350 1360 1370 1380
DYPSKMEYFF DPDVLTEGEL APNDRCCRIC GKIGHFMKDC PMRRKVRRRR DQEDALNQRY
1390 1400 1410 1420 1430 1440
PENKEKRSKE DKEIHNKYTE REVSTKEDKP IQCTPQKAKP MRAAADLGRE KILRPPVEKW
1450 1460 1470 1480 1490
KRQDDKDLRE KRCFICGREG HIKKECPQFK GSSGSLSSKY MTQGKASAKR TQQES