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 Q9P2P1

Entry ID Method Resolution Chain Position Source
AF-Q9P2P1-F1 Predicted AlphaFoldDB

1531 variants for Q9P2P1

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1357325762
CA389247565
2 L>F No ClinGen
TOPMed
gnomAD
CA7136513
rs749407541
3 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA389247627
rs1477235934
4 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1445582766
CA389247608
4 S>P No ClinGen
TOPMed
gnomAD
CA389247640
rs1326098472
5 G>W No ClinGen
gnomAD
rs770905855
CA389247667
6 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA7136514
rs770905855
6 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1438169552
CA389247769
9 P>S No ClinGen
gnomAD
rs1363333113
CA389247789
10 A>T No ClinGen
gnomAD
rs567805123
CA257920310
14 F>C No ClinGen
Ensembl
CA389248059
rs1216785969
15 M>T No ClinGen
gnomAD
rs1271364704
CA389248078
16 V>M No ClinGen
gnomAD
CA389248142
rs1214690970
18 T>A No ClinGen
gnomAD
TCGA novel 20 S>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs551164226
CA7136517
22 P>A No ClinGen
1000Genomes
ExAC
gnomAD
rs551164226
CA7136518
22 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs765022922
CA7136520
24 V>M No ClinGen
ExAC
gnomAD
rs750094778
CA7136522
25 Q>H No ClinGen
ExAC
gnomAD
CA257920351
rs1045933777
27 Q>R No ClinGen
Ensembl
rs1594735656
CA389248443
28 R>G No ClinGen
Ensembl
rs781624995
CA7136526
33 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA257920365
rs781624995
33 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA389248637
rs1396281754
35 F>V No ClinGen
gnomAD
CA7136528
rs756436033
37 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1001630854
CA257920386
39 L>Q No ClinGen
Ensembl
TCGA novel 40 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7136531
rs771121136
42 F>L No ClinGen
ExAC
gnomAD
CA7136532
rs778894536
42 F>Y No ClinGen
ExAC
gnomAD
rs768526460
CA7136534
45 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA389248930
rs1332985865
46 P>R No ClinGen
gnomAD
rs748024470
CA7136536
48 T>N No ClinGen
ExAC
gnomAD
TCGA novel 48 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7136537
rs769696897
49 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA389249030
rs1302811731
50 Y>F No ClinGen
TOPMed
gnomAD
CA7136539
rs762516672
50 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs1318503497
CA389249076
52 W>C No ClinGen
TOPMed
CA389249060
rs1213720720
52 W>G No ClinGen
gnomAD
CA257920482
rs867123197
53 L>V No ClinGen
TOPMed
CA389249114
rs1345327244
54 Q>* No ClinGen
TOPMed
rs1566481752
CA389249162
55 L>F No ClinGen
Ensembl
CA7136541
rs773752081
56 E>Q No ClinGen
ExAC
gnomAD
rs1419698938
CA389249215
57 G>E No ClinGen
gnomAD
rs759060112
CA7136542
57 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs759060112
CA389249208
57 G>W No ClinGen
ExAC
TOPMed
gnomAD
rs768048941
CA7136543
58 P>L No ClinGen
ExAC
gnomAD
CA7136544
rs753195603
59 R>Q No ClinGen
ExAC
CA389249270
rs1310905139
60 E>Q No ClinGen
gnomAD
rs187697702
CA257920526
62 M>I No ClinGen
1000Genomes
gnomAD
rs1594735750
CA389249340
62 M>K No ClinGen
Ensembl
rs764449880
CA7136546
62 M>V No ClinGen
ExAC
gnomAD
TCGA novel 65 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389249498
rs1415878251
66 K>E No ClinGen
gnomAD
CA389249508
rs1315222102
66 K>R No ClinGen
TOPMed
gnomAD
CA389254777
rs1330868879
70 K>N No ClinGen
gnomAD
rs1464270461
CA389254762
70 K>R No ClinGen
gnomAD
CA257929574
rs1009271726
73 C>S No ClinGen
Ensembl
rs750645928
CA7136569
77 L>R No ClinGen
ExAC
gnomAD
rs758632924
CA7136570
80 E>Q No ClinGen
ExAC
gnomAD
CA7136571
rs780283437
81 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA7136572
rs780283437
81 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA7136573
rs756142193
82 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA389255196
rs1594739117
83 Y>S No ClinGen
Ensembl
rs778485525
CA7136577
88 H>L No ClinGen
ExAC
gnomAD
rs1468620371
CA389255390
88 H>Q No ClinGen
gnomAD
rs745526277
CA7136578
92 L>P No ClinGen
ExAC
gnomAD
CA389255552
rs1365581919
94 A>T No ClinGen
gnomAD
CA257929623
rs1016527220
95 Q>P No ClinGen
TOPMed
CA7136582
rs769191962
97 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA389255747
rs1477081270
100 D>G No ClinGen
gnomAD
rs777192126
CA7136583
101 C>G No ClinGen
ExAC
gnomAD
CA389255813
rs1291109902
102 L>F No ClinGen
TOPMed
rs1395552725
CA389255843
103 C>R No ClinGen
gnomAD
TCGA novel 105 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1291888653
CA389255936
105 S>N No ClinGen
gnomAD
CA389255951
rs1594739147
106 T>P No ClinGen
Ensembl
COSM394429
rs1454804280
CA389255970
107 L>F lung [Cosmic] No ClinGen
cosmic curated
TOPMed
rs1454804280
CA389255966
107 L>V No ClinGen
TOPMed
CA389256111
rs1386153416
110 L>V No ClinGen
TOPMed
gnomAD
CA389256292
rs1168225489
113 G>S No ClinGen
TOPMed
rs571250742
CA257929699
114 P>L No ClinGen
Ensembl
CA389256331
rs1277310742
114 P>T No ClinGen
TOPMed
gnomAD
CA7136588
rs557266750
115 P>A No ClinGen
1000Genomes
ExAC
gnomAD
rs751733364
CA7136589
117 S>F No ClinGen
ExAC
gnomAD
rs1313240519
CA389256627
119 M>K No ClinGen
Ensembl
TCGA novel 121 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389256756
rs1594739179
122 G>R No ClinGen
Ensembl
CA7136591
rs777636022
124 T>I No ClinGen
ExAC
gnomAD
rs1487580060
CA389256835
125 E>K No ClinGen
gnomAD
CA257929732
rs986563058
126 S>C No ClinGen
TOPMed
gnomAD
TCGA novel 126 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7136592
rs753798964
128 I>V No ClinGen
ExAC
gnomAD
CA257929759
rs778796771
129 M>K No ClinGen
Ensembl
rs1566484295
TCGA novel
CA389257150
131 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
Ensembl
TCGA novel 131 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7136594
rs778802853
133 W>C No ClinGen
ExAC
TOPMed
gnomAD
rs757078571
CA7136593
133 W>G No ClinGen
ExAC
gnomAD
CA7136595
rs373561750
137 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1039992473
CA257929771
138 V>L No ClinGen
TOPMed
rs201881306
COSM3690046
CA7136596
140 R>* Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1128278
rs1298258264
CA389257532
140 R>Q Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA7136598
rs746590236
142 R>C No ClinGen
ExAC
gnomAD
CA7136599
rs768200995
142 R>L No ClinGen
ExAC
gnomAD
rs1355781215
CA389257644
143 W>C No ClinGen
gnomAD
CA389257602
rs867723587
143 W>G No ClinGen
Ensembl
rs867723587
CA257929789
143 W>R No ClinGen
Ensembl
COSM552874
CA7136600
rs775948701
144 G>C lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA7136602
rs762384920
144 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA7136601
rs762384920
144 G>V No ClinGen
ExAC
TOPMed
gnomAD
COSM1477518
CA7136603
rs773733347
145 P>A Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs773733347
CA7136604
145 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA7136605
rs766743805
146 A>D No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 146 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389257798
rs1287476104
147 P>H No ClinGen
gnomAD
rs1168166660
CA389257885
150 T>I No ClinGen
TOPMed
TCGA novel 150 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 152 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7136609
rs376552671
152 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757243958
CA257929861
152 R>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs757243958
CA7136610
152 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs376552671
CA7136608
152 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA389257963
rs1180476049
153 G>R No ClinGen
gnomAD
rs552507613
CA7136611
153 G>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA389258003
rs1419870273
154 I>V No ClinGen
gnomAD
rs1161406327
CA389258067
155 W>S No ClinGen
gnomAD
CA7136612
rs750263825
157 A>D No ClinGen
ExAC
gnomAD
CA7136613
rs370323848
159 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370323848
CA389258222
159 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA389258263
rs1185749902
160 T>A No ClinGen
TOPMed
CA389258259
rs1185749902
160 T>S No ClinGen
TOPMed
CA389258347
rs1471588395
160 T>S No ClinGen
TOPMed
gnomAD
CA7136615
rs572906859
COSM183587
161 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA7136614
rs373738856
161 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754522325
CA7136616
162 A>T No ClinGen
ExAC
gnomAD
rs1300836944
CA389258451
163 F>L No ClinGen
gnomAD
rs1391567850
CA389258496
164 G>E No ClinGen
gnomAD
rs1479490784
CA389258470
164 G>R No ClinGen
TOPMed
rs1391567850
CA389258488
164 G>V No ClinGen
gnomAD
rs770381190
CA7136619
165 A>D No ClinGen
ExAC
gnomAD
CA7136618
rs747561773
165 A>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 167 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749733217
CA7136621
167 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA389258593
rs749733217
167 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs538522298
CA7136622
COSM3786240
170 R>C Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1208524247
CA389258720
170 R>H No ClinGen
TOPMed
gnomAD
rs774796152
CA7136623
171 G>R No ClinGen
ExAC
gnomAD
CA389258852
rs1481101281
173 Q>R No ClinGen
gnomAD
CA7136626
rs558596464
183 P>A No ClinGen
1000Genomes
ExAC
gnomAD
CA7136625
rs558596464
183 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs760640899
CA7136627
184 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1173726975
CA389259227
185 V>I No ClinGen
gnomAD
CA7136629
rs750350133
186 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs539374112
CA257930020
194 R>Q No ClinGen
TOPMed
gnomAD
rs751312331
CA7136632
194 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs905159667
CA257930030
197 A>V No ClinGen
TOPMed
gnomAD
CA7136634
rs202195057
198 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1200897268
CA389259703
198 G>V No ClinGen
gnomAD
rs747729947
CA7136635
201 D>G No ClinGen
ExAC
gnomAD
rs1252172412
CA389259935
202 I>F No ClinGen
TOPMed
CA7136637
rs778480620
203 I>L No ClinGen
ExAC
gnomAD
CA389260051
rs771495789
204 E>K No ClinGen
ExAC
gnomAD
CA7136639
rs771495789
204 E>Q No ClinGen
ExAC
gnomAD
CA389260127
rs1566484445
205 W>* No ClinGen
Ensembl
CA7136640
rs374698906
208 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7136641
rs746196710
208 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs890504940
CA257930097
210 G>S No ClinGen
TOPMed
gnomAD
rs200319488
CA7136644
213 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA389260596
rs1240145802
213 D>G No ClinGen
Ensembl
rs764176000
CA7136645
217 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs544385173
CA7136646
218 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA389260911
rs1276678062
219 E>V No ClinGen
gnomAD
CA389260989
rs1594739364
220 V>G No ClinGen
Ensembl
rs751416767
CA7136649
222 I>N No ClinGen
ExAC
gnomAD
rs766253210
CA7136648
222 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1395057616
CA389261068
223 C>F No ClinGen
TOPMed
rs1449993834
CA389261118
224 P>L No ClinGen
gnomAD
rs767266661
CA7136651
230 E>K No ClinGen
ExAC
gnomAD
rs752278686
CA7136652
231 A>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 232 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753351183
CA7136655
234 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA7136654
rs777425106
234 M>L No ClinGen
ExAC
gnomAD
CA389261502
rs777425106
234 M>V No ClinGen
ExAC
gnomAD
CA389261559
rs1346362521
235 V>M No ClinGen
TOPMed
gnomAD
CA7136656
rs757889256
236 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA389261599
rs779532173
237 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA7136659
rs779532173
237 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1234263299
CA389261620
238 G>A No ClinGen
gnomAD
rs1286238874
CA389261708
240 S>N No ClinGen
gnomAD
CA257930178
rs561187132
242 G>R No ClinGen
1000Genomes
rs1354469924
CA389261807
242 G>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1284985312
CA389261922
245 V>M No ClinGen
gnomAD
rs1268008731
CA389261952
246 D>G No ClinGen
TOPMed
rs772314423
CA7136661
247 M>V No ClinGen
ExAC
gnomAD
CA7136662
COSM283457
rs368004631
248 G>E Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1481997998
CA389261991
248 G>R No ClinGen
gnomAD
CA257930193
rs1019381148
249 T>S No ClinGen
TOPMed
rs747204107
CA7136663
253 R>G No ClinGen
ExAC
gnomAD
CA7136664
rs768828417
253 R>M No ClinGen
ExAC
gnomAD
CA7136666
rs761855742
254 G>C No ClinGen
ExAC
TOPMed
rs181738235
CA7136667
254 G>D No ClinGen
1000Genomes
ExAC
gnomAD
CA257930233
rs761855742
254 G>R No ClinGen
ExAC
TOPMed
rs952646306
CA257930260
256 E>G No ClinGen
TOPMed
TCGA novel 258 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs144241777
CA7136670
259 K>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs144241777
CA7136669
259 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA389262491
rs1422071552
260 R>S No ClinGen
TOPMed
gnomAD
rs200156454
CA7136671
260 R>T No ClinGen
ExAC
gnomAD
CA7136674
rs763818709
261 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA7136672
rs760433823
261 L>V No ClinGen
ExAC
gnomAD
rs1336532058
CA389262808
265 G>E No ClinGen
gnomAD
rs1447521358
CA389262987
269 S>Y No ClinGen
gnomAD
TCGA novel 270 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389263076
rs1280212608
272 T>I No ClinGen
gnomAD
CA257930316
rs557985460
273 A>P No ClinGen
TOPMed
CA7136677
rs74036628
275 S>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7136678
COSM86262
rs758876637
277 P>L ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA257930324
rs758876637
277 P>Q No ClinGen
ExAC
gnomAD
rs768912222
CA7136681
279 E>K No ClinGen
ExAC
gnomAD
CA7136682
rs781357560
280 A>T No ClinGen
ExAC
gnomAD
rs978434923
CA257930359
281 A>V No ClinGen
TOPMed
rs1594739482
CA389263630
282 N>T No ClinGen
Ensembl
CA7136684
rs769850739
283 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA7136683
rs748289213
283 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs773284886
CA7136685
284 L>V No ClinGen
ExAC
gnomAD
CA257930393
rs376822294
286 R>Q No ClinGen
ESP
rs772004028
CA7136687
286 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs755328039
CA7136699
287 V>I No ClinGen
ExAC
gnomAD
CA257930500
rs994846671
288 G>C No ClinGen
TOPMed
gnomAD
rs994846671
CA257930498
288 G>S No ClinGen
TOPMed
gnomAD
TCGA novel 289 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1374091338
CA389264288
290 N>K No ClinGen
TOPMed
CA389264267
rs1476599819
290 N>S No ClinGen
TOPMed
rs1171796959
CA389264312
291 N>K No ClinGen
gnomAD
rs867860900
CA257930506
291 N>S No ClinGen
Ensembl
CA257930511
rs1037695235
292 Q>E No ClinGen
TOPMed
gnomAD
rs1464222690
CA389264423
294 G>D No ClinGen
gnomAD
rs1464222690
CA389264425
294 G>V No ClinGen
gnomAD
rs1391462117
CA389264491
295 M>I No ClinGen
gnomAD
rs1339437007
CA389264429
295 M>L No ClinGen
gnomAD
CA257930512
rs572019723
295 M>T No ClinGen
gnomAD
CA7136701
rs748383018
296 D>N No ClinGen
ExAC
gnomAD
rs375922437
CA257930531
297 S>N No ClinGen
ESP
TOPMed
gnomAD
rs150643303
CA7136702
297 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201047655
CA7136703
298 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA389264642
rs1319592259
299 Q>R No ClinGen
TOPMed
gnomAD
CA7136704
rs749337820
300 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1488555486
CA389264826
303 T>K No ClinGen
gnomAD
CA389264905
rs1265932641
304 V>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1265932641
CA389264911
304 V>G No ClinGen
gnomAD
CA7136705
rs771946122
304 V>M No ClinGen
ExAC
gnomAD
CA389264939
rs1441809691
305 Q>* No ClinGen
gnomAD
rs1294661717
CA389264974
306 A>D No ClinGen
TOPMed
CA389264959
rs1194880007
306 A>T No ClinGen
TOPMed
gnomAD
rs1476969117
CA389265021
308 S>G No ClinGen
gnomAD
rs1369262771
CA389265063
309 S>N No ClinGen
gnomAD
rs369993635
CA7136707
311 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1459542080
CA389265158
311 D>G No ClinGen
TOPMed
gnomAD
CA389265162
rs1459542080
311 D>V No ClinGen
TOPMed
gnomAD
rs1004150713
CA257930558
313 T>A No ClinGen
TOPMed
CA7136708
rs768586299
313 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA389267863
rs1182661895
315 H>N No ClinGen
TOPMed
gnomAD
CA257930599
rs959886093
316 T>I No ClinGen
TOPMed
CA257930598
rs959886093
316 T>R No ClinGen
TOPMed
rs1397898732
CA389267945
317 Q>K No ClinGen
gnomAD
rs772650230
CA7136712
318 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs772650230
CA389268027
318 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA7136711
rs139819869
318 A>S No ClinGen
1000Genomes
ExAC
gnomAD
rs772650230
CA7136713
318 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1263114959
CA389268145
321 K>T No ClinGen
gnomAD
rs1359398019
CA389268175
322 Q>E No ClinGen
TOPMed
gnomAD
rs1359398019
CA389268172
322 Q>K No ClinGen
TOPMed
gnomAD
rs113119792
CA7136715
CA7136716
323 R>S No ClinGen
TOPMed
gnomAD
CA389268293
rs1594739686
325 V>G No ClinGen
Ensembl
rs752044926
CA7136718
325 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA7136719
rs755419891
327 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1170612364
CA389268392
327 K>N No ClinGen
TOPMed
gnomAD
rs767871241
CA7136720
327 K>T No ClinGen
ExAC
gnomAD
CA7136721
rs753017990
329 E>G No ClinGen
ExAC
gnomAD
CA389268532
rs1594739693
331 K>N No ClinGen
Ensembl
CA257930681
rs74860786
334 F>S No ClinGen
Ensembl
CA389268655
rs1372025774
336 P>T No ClinGen
TOPMed
rs975595029
CA257930695
337 P>S No ClinGen
TOPMed
gnomAD
CA389268722
rs1425728786
338 V>I No ClinGen
gnomAD
rs756310955
CA7136722
339 S>P No ClinGen
ExAC
gnomAD
TCGA novel 340 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7136723
rs778026341
342 G>D No ClinGen
ExAC
gnomAD
rs1159240810
CA389268920
343 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA389268904
rs1159240810
343 V>M No ClinGen
TOPMed
gnomAD
CA389268980
rs1397254471
COSM1607570
344 C>Y liver [Cosmic] No ClinGen
cosmic curated
TOPMed
rs1362375049
CA389269027
345 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7136724
rs749396579
347 W>G No ClinGen
ExAC
TOPMed
gnomAD
CA7136725
rs757347389
351 T>S No ClinGen
ExAC
gnomAD
rs779079283
CA7136726
352 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA257930714
rs925632200
352 P>S No ClinGen
Ensembl
CA7136728
rs768678577
353 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA389269511
rs1566484761
354 P>R No ClinGen
Ensembl
CA7136730
rs373163147
361 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7136732
rs772910282
363 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA389269937
rs1274926005
363 A>V No ClinGen
TOPMed
rs762424673
CA7136733
365 A>S No ClinGen
ExAC
gnomAD
rs765924476
CA7136734
365 A>V No ClinGen
ExAC
gnomAD
rs1297732127
CA389270139
368 F>L No ClinGen
TOPMed
gnomAD
rs944886130
CA257930751
370 R>K No ClinGen
Ensembl
CA257930767
rs370739201
372 N>K No ClinGen
ESP
TOPMed
CA7136735
rs773783660
372 N>S No ClinGen
ExAC
gnomAD
CA7136736
rs760066988
375 H>Q No ClinGen
ExAC
gnomAD
CA389270342
rs1566484793
375 H>R No ClinGen
Ensembl
rs1039650678
CA257930798
377 L>P No ClinGen
Ensembl
rs1437695896
CA389270438
378 H>Y No ClinGen
gnomAD
CA389270527
rs1158147852
380 A>S No ClinGen
gnomAD
CA389270540
rs1359460945
380 A>V No ClinGen
gnomAD
CA7136739
rs200284224
382 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1439100793
CA389270635
382 L>P No ClinGen
TOPMed
CA7136741
rs375919152
386 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1375365505
CA389270799
387 C>F No ClinGen
gnomAD
rs779169130
CA7136743
387 C>R No ClinGen
ExAC
gnomAD
rs1375365505
CA389270805
387 C>S No ClinGen
gnomAD
CA257930856
rs940699754
389 N>D No ClinGen
Ensembl
CA389270907
rs1343504670
389 N>S No ClinGen
TOPMed
CA389270932
rs1223651699
390 F>Y No ClinGen
gnomAD
rs750485412
CA7136744
391 P>R No ClinGen
ExAC
gnomAD
CA389270944
rs1302427181
391 P>S No ClinGen
gnomAD
CA389270945
rs1302427181
391 P>T No ClinGen
gnomAD
rs1208455558
CA389270999
393 W>R No ClinGen
gnomAD
rs1262797212
CA389271015
394 Q>E No ClinGen
gnomAD
CA389271069
rs1161291091
395 R>S No ClinGen
TOPMed
CA7136746
rs781246698
396 P>L No ClinGen
ExAC
gnomAD
CA7136747
rs781246698
396 P>R No ClinGen
ExAC
gnomAD
rs929300856
CA257930862
396 P>S No ClinGen
TOPMed
rs1200627965 400 I>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1468540953
CA389271354
402 L>W No ClinGen
gnomAD
rs1173663517
CA389271493
406 G>R No ClinGen
gnomAD
TCGA novel 408 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389271662
rs1428188971
409 P>L No ClinGen
gnomAD
rs773871684
CA7136752
411 P>S No ClinGen
ExAC
gnomAD
CA7136753
rs759022803
413 N>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 416 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772635571
CA7136754
418 Q>K No ClinGen
ExAC
gnomAD
rs775964488
CA7136755
419 K>R No ClinGen
ExAC
gnomAD
CA7136756
rs200184423
420 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA7136757
rs201508215
420 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs1477951921
CA389272095
422 A>S No ClinGen
TOPMed
gnomAD
CA7136758
rs754115535
423 P>R No ClinGen
ExAC
gnomAD
rs748401666
CA257930916
425 P>L No ClinGen
TOPMed
gnomAD
rs1231684808
CA389272215
425 P>S No ClinGen
TOPMed
rs762121476
CA7136759
426 S>N No ClinGen
ExAC
gnomAD
rs1032749252
CA257930930
427 A>T No ClinGen
gnomAD
rs750575048
CA7136761
429 S>G No ClinGen
ExAC
gnomAD
CA7136762
rs758545618
429 S>N No ClinGen
ExAC
gnomAD
rs1172444035
CA389272455
430 P>R No ClinGen
gnomAD
rs1477949724
CA389272447
430 P>T No ClinGen
gnomAD
CA389272537
rs1408904562
432 G>D No ClinGen
gnomAD
CA7136763
rs781334023
432 G>S No ClinGen
ExAC
gnomAD
rs752690083
CA7136764
434 P>L No ClinGen
ExAC
gnomAD
CA7136767
rs777654963
CA389272642
436 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs777654963
CA7136766
436 G>W No ClinGen
ExAC
TOPMed
gnomAD
rs191695865
CA7136768
437 G>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA389272705
rs1341459104
437 G>R No ClinGen
gnomAD
rs1427934210 438 L>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7136771
rs771586058
439 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA257930967
rs1009187314
442 A>S No ClinGen
TOPMed
rs922107081
CA257930979
445 Q>K No ClinGen
TOPMed
CA389273355
rs1320570953
453 S>A No ClinGen
gnomAD
rs771537997
CA257930999
455 K>E No ClinGen
Ensembl
CA257931005
rs930821239
455 K>R No ClinGen
TOPMed
rs368386544
CA7136775
456 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7136777
rs762055012
457 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs12437434
CA7136778
VAR_037857
457 T>M No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7136776
rs762055012
457 T>P No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 458 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1423309439
CA389273592
458 S>N No ClinGen
TOPMed
gnomAD
CA389273578
rs1415252556
458 S>R No ClinGen
TOPMed
gnomAD
rs1163575561
CA389273768
462 V>A No ClinGen
gnomAD
CA389273841
rs1421951732
463 P>R No ClinGen
gnomAD
rs766567921
CA7136780
463 P>S No ClinGen
ExAC
gnomAD
CA7136781
rs751550168
464 G>R No ClinGen
ExAC
gnomAD
rs940669989
CA257931045
465 S>N No ClinGen
Ensembl
CA7136784
rs753706025
467 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs149771079
CA7136783
467 D>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7136782
rs149771079
467 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7136785
rs757034250
468 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA389274171
rs1245330388
469 K>R No ClinGen
gnomAD
rs745524157
CA7136787
COSM955061
470 D>G Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA7136789
rs760202880
474 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA7136788
rs758007159
474 S>P No ClinGen
ExAC
gnomAD
CA389274317
rs1297844334
475 D>A No ClinGen
TOPMed
CA389274408
COSM283458
rs1352588616
478 Q>H large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs777003032
CA7136792
478 Q>K No ClinGen
ExAC
gnomAD
CA7136793
rs375351963
478 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA257931167
rs867297643
480 G>E No ClinGen
Ensembl
CA389274538
rs1594739993
484 T>A No ClinGen
Ensembl
rs773641062
CA7136795
485 S>F No ClinGen
ExAC
gnomAD
rs1381533525
CA389274633
486 T>A No ClinGen
gnomAD
rs1157227112
CA389274666
487 P>H No ClinGen
gnomAD
CA389274668
rs1157227112
487 P>L No ClinGen
gnomAD
TCGA novel 488 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763296422
CA7136796
489 L>R No ClinGen
ExAC
gnomAD
CA7136797
rs766462162
490 Q>* No ClinGen
ExAC
gnomAD
CA389274737
rs766462162
490 Q>E No ClinGen
ExAC
gnomAD
TCGA novel 490 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA257931189
rs763697962
491 A>P No ClinGen
gnomAD
rs1417083964
CA389274841
494 E>K No ClinGen
TOPMed
CA7136799
rs367907615
495 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7136800
rs367907615
495 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7136798
rs774539372
495 P>S No ClinGen
ExAC
gnomAD
TCGA novel 496 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA257931238
rs1032716633
498 Q>E No ClinGen
TOPMed
gnomAD
CA7136803
rs765047927
499 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs944909212
CA257931248
500 S>R No ClinGen
TOPMed
gnomAD
CA389275038
rs1202493172
501 M>I No ClinGen
TOPMed
gnomAD
CA389275013
rs1459687417
501 M>V No ClinGen
gnomAD
rs528511265
CA7136804
502 Q>H No ClinGen
1000Genomes
ExAC
gnomAD
rs1459499346
CA389275129
504 D>N No ClinGen
TOPMed
gnomAD
CA389275125
rs1459499346
504 D>Y No ClinGen
TOPMed
gnomAD
rs779545570
CA389275200
507 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs375728700
CA7136805
507 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779545570
CA7136806
507 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1306523805
CA389275210
508 L>V No ClinGen
TOPMed
CA7136807
rs746599929
509 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs369906228
CA7136808
511 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7136810
rs748667976
513 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs770381425
CA7136811
513 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA7136812
rs773731159
514 P>A No ClinGen
ExAC
gnomAD
CA389275437
rs1594740072
515 V>L No ClinGen
Ensembl
rs199653140
CA7136813
518 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs375391398
CA7136814
518 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs199653140
CA257931316
518 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs774430926
CA7136815
520 Q>P No ClinGen
ExAC
gnomAD
CA389275578
rs1159429851
521 G>E No ClinGen
gnomAD
CA7136818
rs373058068
COSM955062
524 V>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7136819
rs761763445
525 A>T No ClinGen
ExAC
gnomAD
CA389275707
rs1193569458
526 Q>H No ClinGen
gnomAD
COSM3401268
CA389275726
rs1452634221
527 G>E Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA389275711
rs1250512409
527 G>R No ClinGen
gnomAD
rs1452634221
CA389275729
527 G>V No ClinGen
TOPMed
gnomAD
CA389275838
rs1201469815
532 Q>* No ClinGen
gnomAD
CA7136820
rs765139986
532 Q>H No ClinGen
ExAC
gnomAD
CA389275844
rs1267162055
532 Q>P No ClinGen
gnomAD
rs1171716968
CA389275918
535 P>L No ClinGen
TOPMed
gnomAD
rs750261872
CA7136821
536 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs1167391649
CA389275996
538 Q>P No ClinGen
gnomAD
rs762736202
CA7136822
539 T>I No ClinGen
ExAC
gnomAD
rs766117294
CA7136823
540 V>A No ClinGen
ExAC
gnomAD
TCGA novel 540 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389276079
rs1310293050
541 P>L No ClinGen
TOPMed
CA389276063
rs1304758970
541 P>S No ClinGen
gnomAD
rs1404079617
CA389276116
543 T>S No ClinGen
gnomAD
CA7136826
rs754588570
547 P>L No ClinGen
ExAC
gnomAD
rs1566485096
CA389276296
548 M>V No ClinGen
Ensembl
rs780596395
CA7136827
549 A>T No ClinGen
ExAC
gnomAD
rs756732851
CA7136829
555 A>D No ClinGen
ExAC
gnomAD
rs992141487
CA257931369
555 A>P No ClinGen
Ensembl
rs200584757
CA7136831
556 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs145724098
CA7136833
557 N>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7136832
rs771185887
557 N>Y No ClinGen
ExAC
gnomAD
CA389276753
rs1451015837
558 P>R No ClinGen
TOPMed
CA257931384
rs267603970
558 P>S No ClinGen
TOPMed
rs267603970
CA389276747
558 P>T No ClinGen
TOPMed
rs927248858
CA257931388
560 R>G No ClinGen
Ensembl
CA389276817
rs1192562964
560 R>I No ClinGen
gnomAD
rs1369086851
CA389276825
561 T>A No ClinGen
gnomAD
rs377093455
CA7136836
CA389276912
562 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370185858
CA7136838
564 P>L No ClinGen
ESP
ExAC
gnomAD
TCGA novel 564 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 565 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773124937
CA7136839
566 A>V No ClinGen
ExAC
gnomAD
CA257931404
rs866326115
567 A>T No ClinGen
TOPMed
gnomAD
rs762894342
CA7136840
568 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs762894342
CA389277111
568 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1594740180
CA389277154
569 K>Q No ClinGen
Ensembl
rs1363644344
CA389277177
569 K>R No ClinGen
TOPMed
gnomAD
CA389277186
rs1380129203
570 L>M No ClinGen
TOPMed
gnomAD
CA7136842
rs766088225
571 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs766088225
CA7136841
571 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA7136843
COSM955063
rs759130124
574 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7136844
rs767253660
574 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs752294572
CA7136845
575 M>V No ClinGen
ExAC
gnomAD
CA389277451
rs1233901525
576 M>I No ClinGen
TOPMed
rs1217821801
CA389277413
576 M>L No ClinGen
gnomAD
CA389277415
rs1217821801
576 M>V No ClinGen
gnomAD
rs755678771
CA7136846
578 A>P No ClinGen
ExAC
gnomAD
rs755678771
CA7136847
578 A>T No ClinGen
ExAC
gnomAD
CA7136848
rs754402081
578 A>V No ClinGen
ExAC
gnomAD
CA257931446
rs1054220452
579 V>G No ClinGen
Ensembl
CA7136850
rs375647768
580 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA389277636
rs1443860955
581 T>A No ClinGen
gnomAD
CA7136853
rs377709968
582 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA389277757
rs1451330282
583 P>R No ClinGen
gnomAD
CA7136854
rs371037597
586 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368022553
CA7136856
587 E>K Variant assessed as Somatic; 4.694e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7136857
rs371945048
588 V>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770851041
CA7136858
589 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA389278044
rs1382697072
589 P>S No ClinGen
gnomAD
CA7136859
rs532810477
593 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1238777240
CA389278227
594 K>N No ClinGen
gnomAD
rs201954983
CA7136861
597 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA389278308
rs1201859441
597 A>P No ClinGen
gnomAD
CA389278332
rs1182093807
598 Q>* No ClinGen
gnomAD
rs1460834735
CA389278397
599 L>P No ClinGen
gnomAD
rs867127147
CA257931478
602 T>A No ClinGen
gnomAD
CA389278517
rs1417150286
603 A>T No ClinGen
gnomAD
CA7136862
rs767343609
606 T>A No ClinGen
ExAC
gnomAD
TCGA novel 606 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767343609
CA257931482
606 T>P No ClinGen
ExAC
gnomAD
TCGA novel 606 T>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1217581484
CA389278710
607 V>A No ClinGen
Ensembl
rs760345842
CA389278815
611 P>S No ClinGen
ExAC
gnomAD
CA7136864
rs760345842
611 P>T No ClinGen
ExAC
gnomAD
CA389279080
rs1372964984
618 E>* No ClinGen
TOPMed
CA389279123
rs1391194816
619 P>L No ClinGen
gnomAD
CA389279113
rs1371799502
619 P>S No ClinGen
gnomAD
CA389279130
rs1191717861
620 T>A No ClinGen
TOPMed
CA389279194
rs1250331726
622 P>Q No ClinGen
gnomAD
CA389279205
rs1302337890
623 K>N No ClinGen
gnomAD
rs1325965983
CA389279216
624 T>I No ClinGen
gnomAD
rs1221861529
CA389279229
625 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA389279235
rs1262726450
626 Q>* No ClinGen
gnomAD
rs757756582
CA7136867
626 Q>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 626 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389279278
rs1234589082
627 A>G No ClinGen
gnomAD
CA389279297
rs1479582727
628 Q>* No ClinGen
gnomAD
rs1264066649
CA389279308
628 Q>L No ClinGen
TOPMed
CA257931505
rs867633221
630 M>I No ClinGen
gnomAD
CA389279397
rs1269279065
631 P>L No ClinGen
gnomAD
CA257931509
rs1015112049
632 V>L No ClinGen
gnomAD
CA257931511
rs962096321
637 P>L No ClinGen
Ensembl
rs765746103
CA7136869
637 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA389279545
rs1465745149
638 A>T No ClinGen
gnomAD
CA7136871
rs376129072
639 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA389279567
rs1353275813
639 G>C No ClinGen
gnomAD
rs376129072
CA389279576
639 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA7136872
RCV000960063
rs145306004
641 K>Q No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA389279648
rs1347838752
642 T>A No ClinGen
gnomAD
CA7136873
rs747240099
643 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs755150065
CA7136874
644 K>R No ClinGen
ExAC
gnomAD
rs1566485289
CA389279869
647 A>G No ClinGen
Ensembl
CA7136875
rs781268310
647 A>T No ClinGen
ExAC
gnomAD
CA7136877
rs770811678
648 G>R No ClinGen
ExAC
gnomAD
rs1203669104
CA389279957
650 A>T No ClinGen
gnomAD
rs1292376531
CA389279982
650 A>V No ClinGen
gnomAD
CA257931526
rs936291554
651 A>G No ClinGen
TOPMed
gnomAD
CA257931536
rs796887667
652 T>A No ClinGen
Ensembl
CA7136879
rs147608016
653 V>A No ClinGen
1000Genomes
TOPMed
CA389280142
rs1267752553
654 S>P No ClinGen
TOPMed
gnomAD
CA7136882
rs774339840
CA7136883
655 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA389280259
rs1187797357
656 A>P No ClinGen
TOPMed
gnomAD
rs1187797357
CA389280254
656 A>T No ClinGen
TOPMed
gnomAD
CA389280284
rs1416712002
656 A>V No ClinGen
gnomAD
CA389280305
rs1408841206
657 P>L No ClinGen
gnomAD
rs1367997178
CA389280312
658 A>T No ClinGen
gnomAD
rs1474280593
CA389280345
659 A>P No ClinGen
TOPMed
VAR_037858
rs8008203
CA257931557
659 A>V No ClinGen
UniProt
1000Genomes
ESP
TOPMed
dbSNP
gnomAD
CA7136885
rs371964335
660 S>A No ClinGen
ESP
ExAC
TOPMed
CA7136886
rs371964335
660 S>P No ClinGen
ESP
ExAC
TOPMed
TCGA novel 662 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200060308
CA7136888
663 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs543003504
CA257931582
664 A>T No ClinGen
gnomAD
CA389280556
rs1433103582
664 A>V No ClinGen
gnomAD
rs1268510020
CA389280619
666 P>S No ClinGen
TOPMed
gnomAD
CA389280655
rs1196673219
667 K>E No ClinGen
TOPMed
CA257931585
rs796386133
668 V>A No ClinGen
TOPMed
gnomAD
rs1361415676
CA389280750
669 P>S No ClinGen
TOPMed
gnomAD
rs1315720504
CA389280809
670 V>A No ClinGen
gnomAD
CA7136890
rs761385721
672 P>T No ClinGen
ExAC
TCGA novel 674 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1594740413
CA389281029
675 S>Y No ClinGen
Ensembl
rs1217559901
CA389281036
676 R>G No ClinGen
gnomAD
rs750958289
CA7136892
677 A>T No ClinGen
ExAC
gnomAD
rs1474833203
CA389281136
678 P>A No ClinGen
gnomAD
rs758838841
CA7136893
678 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs758838841
CA7136894
678 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs868791706
CA257931612
679 K>Q No ClinGen
TOPMed
gnomAD
rs368211399
CA257931613
680 T>I No ClinGen
gnomAD
rs755240078
CA7136896
681 P>L No ClinGen
ExAC
gnomAD
CA7136895
rs751868586
681 P>S No ClinGen
ExAC
gnomAD
CA7136897
rs781442512
682 A>V No ClinGen
ExAC
gnomAD
CA389281345
rs1316546284
684 Q>H No ClinGen
gnomAD
rs554700851
COSM955066
CA7136900
687 P>L Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7136899
rs756203827
687 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs756203827
CA389281450
687 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs764918846
CA7136901
688 T>M No ClinGen
ExAC
gnomAD
rs994794590
CA257931659
689 D>N No ClinGen
TOPMed
gnomAD
rs994794590
CA389281526
689 D>Y No ClinGen
TOPMed
gnomAD
rs1401601689
CA389281652
690 A>S No ClinGen
TOPMed
rs1225255237
CA389281656
690 A>V No ClinGen
gnomAD
CA389281670
rs1446002548
691 G>R No ClinGen
gnomAD
rs1244401113
CA389281736
692 P>L No ClinGen
gnomAD
rs1364845353
CA389281846
695 D>G No ClinGen
gnomAD
CA7136905
rs768490988
695 D>N No ClinGen
ExAC
gnomAD
CA389281980
rs1471396298
697 A>V No ClinGen
gnomAD
rs1344589737
CA389282082
700 L>R No ClinGen
Ensembl
rs761316892
CA7136907
700 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA389282092
rs1470404789
701 S>R No ClinGen
gnomAD
CA7136908
rs769355894
703 V>D No ClinGen
ExAC
rs1451969475
CA389282503
709 A>V No ClinGen
gnomAD
CA7136910
rs772560646
710 S>N No ClinGen
ExAC
gnomAD
rs996204726
CA257931673
711 V>F No ClinGen
gnomAD
rs1444124416
CA389282591
712 S>P No ClinGen
gnomAD
CA389282568
rs1444124416
712 S>T No ClinGen
gnomAD
CA389282705
rs1349543193
713 L>F No ClinGen
gnomAD
TCGA novel 715 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766844716
CA7136912
716 G>S No ClinGen
ExAC
gnomAD
rs1320850066
CA389282798
717 Q>E No ClinGen
TOPMed
gnomAD
CA389282874
rs1251889751
718 G>E No ClinGen
gnomAD
CA7136914
rs759887246
720 A>T No ClinGen
ExAC
gnomAD
RCV000893795
rs200984430
CA7136915
721 G>R No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1006494539
CA389282976
722 R>S No ClinGen
gnomAD
TCGA novel
rs1594740513
CA389283043
724 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
rs1201916164
CA389283074
725 P>L No ClinGen
gnomAD
CA7136916
rs752976271
726 Q>P No ClinGen
ExAC
gnomAD
rs1397129123
CA389283165
728 S>T No ClinGen
gnomAD
TCGA novel 730 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1411553125
CA389283263
730 T>S No ClinGen
TOPMed
gnomAD
CA389283358
rs1238677972
732 A>D No ClinGen
TOPMed
rs376464969
CA7136918
732 A>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7136919
rs376464969
732 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7136921
rs750271245
734 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs182330062
CA7136923
735 S>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs182330062
CA7136922
735 S>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1228398813
CA389283537
736 K>N No ClinGen
TOPMed
CA257931710
rs780786827
737 H>Q No ClinGen
ExAC
CA389283542
rs1349432394
737 H>Y No ClinGen
TOPMed
COSM1369400
CA389283653
rs1448322458
739 F>L large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA389283747
rs1343195473
742 E>V No ClinGen
TOPMed
gnomAD
rs747870883
CA7136925
744 L>V No ClinGen
ExAC
gnomAD
rs1351685122
CA389283959
750 G>R No ClinGen
TOPMed
TCGA novel 751 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389284028
rs1342119984
752 P>S No ClinGen
gnomAD
CA389284107
rs1400214089
754 Q>H No ClinGen
TOPMed
CA7136927
rs772825031
754 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1160718241
CA389284126
755 P>L No ClinGen
TOPMed
rs559761812
CA7136929
755 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA7136928
rs559761812
755 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs774825048
CA7136930
756 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs267603971
CA7136931
757 R>C No ClinGen
ExAC
TOPMed
gnomAD
COSM955067
rs201382639
CA7136932
757 R>H endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1480192933
CA389284207
758 H>Q No ClinGen
gnomAD
rs752963794
CA389284278
761 A>G No ClinGen
ExAC
gnomAD
CA7136933
rs752963794
COSM955068
761 A>V Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs371144068
CA7136936
762 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1166125350
CA389284352
763 S>T No ClinGen
gnomAD
CA389284672
rs1304664474
771 Y>* No ClinGen
gnomAD
CA7136938
rs765352066
771 Y>C No ClinGen
ExAC
gnomAD
rs1363368161
CA389284696
772 H>R No ClinGen
gnomAD
CA389284723
rs1295825406
773 E>K No ClinGen
gnomAD
TCGA novel 774 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1594740607
CA389284770
774 A>V No ClinGen
Ensembl
rs755826892
CA389284901
780 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs755826892
CA7136943
780 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA7136944
rs372080002
780 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs766395717
CA7136946
785 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA389285122
rs1165269034
786 E>D No ClinGen
gnomAD
CA7136948
rs370769954
786 E>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7136947
rs377683866
786 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751504287
CA7136950
787 P>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 787 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751504287
CA7136949
787 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs1189181625
CA389285217
790 Q>E No ClinGen
TOPMed
rs1420614356
CA389285240
790 Q>H No ClinGen
TOPMed
rs547141864
CA7136951
790 Q>P No ClinGen
1000Genomes
ExAC
gnomAD
rs547141864
CA257931809
790 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
rs777009648
CA7136953
791 G>A No ClinGen
ExAC
gnomAD
rs781272668
CA7136952
791 G>R No ClinGen
ExAC
gnomAD
CA389285288
rs777009648
791 G>V No ClinGen
ExAC
gnomAD
rs765443117
CA7136955
793 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs762063546
CA7136954
793 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs750485430
CA7136956
794 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1594740647
CA389285379
795 V>G No ClinGen
Ensembl
rs754988176
CA7136957
795 V>M No ClinGen
ExAC
gnomAD
CA257931833
rs62000678
797 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs752600470
CA7136959
797 I>T No ClinGen
ExAC
CA389285504
rs1262773359
799 G>D No ClinGen
gnomAD
CA7136961
rs777484499
799 G>S No ClinGen
ExAC
gnomAD
TCGA novel 799 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7136962
rs748942924
801 S>G No ClinGen
ExAC
gnomAD
rs1474782349
CA389285611
801 S>N No ClinGen
TOPMed
CA257931837
rs756372580
802 V>A No ClinGen
TOPMed
CA389285643
rs756372580
802 V>E No ClinGen
TOPMed
rs1204666371
CA389285687
804 M>V No ClinGen
gnomAD
rs756862512
CA7136963
805 V>M No ClinGen
ExAC
gnomAD
rs1269166343
CA389287728
809 Q>R No ClinGen
gnomAD
rs764954975
CA7137000
811 F>Y No ClinGen
ExAC
gnomAD
rs780897384 812 F>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA389287873
rs1353257595
814 C>F No ClinGen
gnomAD
CA257932809
rs971821030
815 R>* No ClinGen
gnomAD
CA257932812
rs368644928
815 R>Q No ClinGen
ESP
TOPMed
gnomAD
CA389287970
rs1367723124
818 A>V No ClinGen
gnomAD
CA7137003
rs370778319
819 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs772745095
CA7137002
819 M>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA389288032
rs1408582861
821 V>L No ClinGen
TOPMed
CA7137007
rs748584472
822 Q>H No ClinGen
ExAC
gnomAD
CA7137006
rs781762444
822 Q>P No ClinGen
ExAC
gnomAD
rs1339900581
CA389288099
823 F>S No ClinGen
gnomAD
rs1292177693
CA389288213
COSM1218142
827 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs770299659
CA7137008
827 R>W No ClinGen
ExAC
gnomAD
TCGA novel 828 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1490773659
CA389288245
829 H>Q No ClinGen
gnomAD
CA7137009
rs371937730
830 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs540767530
CA7137010
830 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA389288255
rs1187704898
831 E>K No ClinGen
gnomAD
CA7137012
rs780845306
832 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 833 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747717073
CA257932848
838 T>S No ClinGen
Ensembl
rs776562470
CA7137015
842 K>R No ClinGen
ExAC
gnomAD
rs376203691
CA7137016
845 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1345997753
CA389288543
846 R>K No ClinGen
TOPMed
gnomAD
rs1345997753
CA389288536
846 R>M No ClinGen
TOPMed
gnomAD
CA7137036
rs192585061
849 E>D No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 850 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389288772
rs1327945008
851 H>Y No ClinGen
TOPMed
gnomAD
rs762799957
COSM955070
CA7137038
854 T>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA389288969
rs1441123158
857 H>D No ClinGen
gnomAD
CA389288964
rs1441123158
857 H>Y No ClinGen
gnomAD
CA7137039
rs547499850
858 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 860 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759200905
CA7137041
861 M>L No ClinGen
ExAC
gnomAD
CA389289223
rs1470352390
864 I>M No ClinGen
gnomAD
rs112923621
CA257933028
868 Q>K No ClinGen
Ensembl
rs1404311583
CA389289410
869 L>P No ClinGen
gnomAD
CA7137043
rs752207041
870 E>Q No ClinGen
ExAC
gnomAD
rs1411421778
CA389289537
873 K>E No ClinGen
gnomAD
rs764632691
CA7137045
877 T>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 878 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779080140
CA7137048
881 R>W No ClinGen
ExAC
gnomAD
rs751644731
CA7137069
884 V>L No ClinGen
ExAC
gnomAD
TCGA novel 885 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1345734969
CA389291930
887 A>G No ClinGen
TOPMed
CA7137071
rs755102842
887 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs1388058127
CA389291939
888 E>* No ClinGen
gnomAD
rs1318130078
CA389292035
892 G>S No ClinGen
TOPMed
rs367836202
CA257936361
893 I>T No ClinGen
ESP
TOPMed
gnomAD
rs749282422
CA7137073
900 I>F No ClinGen
ExAC
gnomAD
TCGA novel 901 H>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs979292744
CA257936374
901 H>L No ClinGen
Ensembl
rs946550334
CA257936369
901 H>Y No ClinGen
Ensembl
rs1247420191
CA389292309
904 M>R No ClinGen
gnomAD
CA7137074
rs770727942
906 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA389292355
rs1355821906
906 S>N No ClinGen
gnomAD
TCGA novel 908 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770637725
CA7137076
910 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs1463581756
CA389292477
913 K>Q No ClinGen
gnomAD
CA7137077
rs771918596
913 K>R No ClinGen
ExAC
gnomAD
rs935110217
CA257936391
914 D>G No ClinGen
Ensembl
rs775268808
CA7137078
915 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs775268808
CA389292518
915 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs200022118
CA7137079
915 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368021960
CA7137097
918 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372202987
CA7137098
922 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7137102
rs763387579
931 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs765612926
CA257936550
932 P>L No ClinGen
TOPMed
gnomAD
rs765612926
CA389293123
932 P>R No ClinGen
TOPMed
gnomAD
TCGA novel 934 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774532184
CA7137104
935 R>C No ClinGen
ExAC
gnomAD
CA389293177
rs774532184
935 R>G No ClinGen
ExAC
gnomAD
CA7137105
rs533383251
935 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 935 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7137106
rs767604457
936 D>N No ClinGen
ExAC
gnomAD
TCGA novel 937 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389293251
rs1164097330
938 P>A No ClinGen
gnomAD
CA257936587
rs905758273
938 P>L No ClinGen
TOPMed
CA7137109
rs368950291
939 T>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1423716314
CA389293293
941 D>E No ClinGen
TOPMed
CA257936594
rs771044984
941 D>H No ClinGen
TOPMed
CA7137111
rs758361461
941 D>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 944 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389293435
rs1368972775
946 K>R No ClinGen
gnomAD
CA7137134
rs754738912
951 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs780970857
CA7137135
952 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1464931709
CA389293880
954 I>T No ClinGen
gnomAD
rs1210529781
CA389293866
954 I>V No ClinGen
TOPMed
rs200069421
CA257937109
960 V>M No ClinGen
gnomAD
CA389294096
rs1403764493
963 T>A No ClinGen
gnomAD
CA389294115
rs771536071
963 T>I No ClinGen
ExAC
gnomAD
CA389294089
rs1403764493
963 T>P No ClinGen
gnomAD
CA7137140
rs771536071
963 T>S No ClinGen
ExAC
gnomAD
rs1345898794
CA389294117
964 L>I No ClinGen
gnomAD
rs1458883218
CA389294131
964 L>P No ClinGen
gnomAD
rs772328590
CA7137143
968 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1284523103
CA389294237
969 A>T No ClinGen
gnomAD
CA7137145
rs761027102
975 S>N No ClinGen
ExAC
gnomAD
CA389294447
rs1288790624
977 D>G No ClinGen
TOPMed
VAR_037859
rs8017377
CA7137148
978 A>T No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA389294485
rs1211288948
980 S>P No ClinGen
gnomAD
CA7137150
rs201369368
981 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA389294535
rs181160538
982 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs181160538
CA7137152
982 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA389294641
rs1156947852
985 S>N No ClinGen
gnomAD
CA7137154
rs752469901
986 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA389294651
rs752469901
986 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA7137155
COSM3419753
rs373042156
987 P>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs373042156
CA7137156
987 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146414871
CA7137158
988 N>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs146414871
CA7137157
988 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 989 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1445527904
CA389294716
989 M>V No ClinGen
gnomAD
CA7137160
rs778420705
990 E>G No ClinGen
ExAC
gnomAD
rs778420705
CA7137159
990 E>V No ClinGen
ExAC
gnomAD
rs934759594
CA257937190
997 E>G No ClinGen
Ensembl
rs3742518
VAR_037860
CA7137161
997 E>K No ClinGen
UniProt
ExAC
dbSNP
gnomAD
CA389295062
rs1285850000
999 R>G No ClinGen
gnomAD
rs1327837666
CA389295075
999 R>M No ClinGen
gnomAD
CA389295145
rs1370433601
1001 D>N No ClinGen
gnomAD
rs1220351937
CA389295209
1002 E>A No ClinGen
gnomAD
COSM1740122
rs200803889
CA7137163
1003 E>D haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs780603993
CA7137162
1003 E>K No ClinGen
ExAC
gnomAD
rs1330114562
CA389295349
1005 R>I No ClinGen
TOPMed
rs769054523
CA7137164
1006 Q>* No ClinGen
ExAC
gnomAD
rs777003696
CA7137165
1006 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1252819045
CA389295382
1006 Q>P No ClinGen
gnomAD
CA389295383
rs1252819045
1006 Q>R No ClinGen
gnomAD
CA389295478
rs1180261017
1009 G>D No ClinGen
gnomAD
CA389295502
rs1411379756
1010 T>P No ClinGen
gnomAD
rs762023837
CA7137166
1011 Q>E No ClinGen
ExAC
gnomAD
rs199693660
CA7137168
1013 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs199693660
CA7137167
1013 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA389295598
rs1412553059
1014 A>T No ClinGen
gnomAD
CA389295613
rs1566487207
1015 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA7137171
rs550900598
1016 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7137173
rs760451377
1019 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs763821704
CA7137175
1020 D>H No ClinGen
ExAC
gnomAD
CA7137174
rs763821704
1020 D>Y No ClinGen
ExAC
gnomAD
CA389295830
rs1349408747
1021 S>F No ClinGen
gnomAD
rs1388936658
CA389295855
1022 S>A No ClinGen
TOPMed
rs778334456
CA7137177
1022 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1427771180
CA389295890
1024 A>T No ClinGen
TOPMed
rs1219040529
CA389295906
1024 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA7137180
rs535872115
1025 S>T No ClinGen
1000Genomes
ExAC
gnomAD
CA389296051
rs1190616437
1029 V>G No ClinGen
TOPMed
rs951130609
CA257937247
1029 V>M No ClinGen
TOPMed
CA389296056
rs747458117
1030 E>* No ClinGen
ExAC
gnomAD
CA7137181
rs747458117
1030 E>Q No ClinGen
ExAC
gnomAD
rs986518721
CA257937254
1031 C>F No ClinGen
TOPMed
CA7137183
rs375520766
1032 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA257937264
rs375520766
1032 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755396512
CA7137182
1032 P>S No ClinGen
ExAC
gnomAD
CA7137187
rs773207818
1035 S>L No ClinGen
ExAC
rs368482072
CA7137189
1038 I>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7137191
rs201775736
1040 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA7137192
rs763907941
1040 R>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM3814648
CA7137190
rs201775736
1040 R>W breast [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA7137194
rs761411228
1041 C>Y No ClinGen
ExAC
gnomAD
rs1324907843
CA389299526
1044 L>F No ClinGen
gnomAD
rs546544996
CA7137195
1045 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1226576107
CA389299559
1047 P>L No ClinGen
TOPMed
gnomAD
rs757937013
CA7137197
1047 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7137199
rs752141342
1048 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs1566487288
CA389299585
1049 D>E No ClinGen
Ensembl
CA7137200
rs755490662
1049 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs925128322
CA257937333
1050 G>R No ClinGen
TOPMed
rs936733579
CA257937347
1053 D>G No ClinGen
TOPMed
gnomAD
rs1447806866
CA389299640
1054 I>F No ClinGen
TOPMed
gnomAD
rs1447806866
CA389299638
1054 I>V No ClinGen
TOPMed
gnomAD
CA389299657
rs1594742744
1055 D>A No ClinGen
Ensembl
CA389299654
rs1248551237
1055 D>N No ClinGen
gnomAD
rs1186363240
CA389299678
1057 L>V No ClinGen
gnomAD
CA7137201
rs781725280
1059 G>R No ClinGen
ExAC
gnomAD
TCGA novel 1060 A>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389299712
rs1164608993
1060 A>T No ClinGen
TOPMed
gnomAD
CA389299725
rs756361954
1061 A>P No ClinGen
ExAC
gnomAD
CA7137203
rs756361954
1061 A>T No ClinGen
ExAC
gnomAD
rs1484378633
CA389299743
1062 S>F No ClinGen
TOPMed
rs1460456611
CA389299745
1063 P>T No ClinGen
gnomAD
rs1414234981
CA389299762
1064 Y>H No ClinGen
gnomAD
TCGA novel 1066 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389299810
COSM552868
rs1367891668
1068 P>S lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA7137208
rs746972256
1069 W>* No ClinGen
ExAC
gnomAD
CA7137206
rs771003469
1069 W>R No ClinGen
ExAC
gnomAD
CA7137207
rs774376183
1069 W>S No ClinGen
ExAC
gnomAD
CA7137209
rs768548181
1070 D>E No ClinGen
ExAC
gnomAD
CA389299839
rs1247304389
1070 D>G No ClinGen
gnomAD
CA7137210
rs776355044
1071 G>R No ClinGen
ExAC
gnomAD
rs1594742784
CA389299878
1073 A>P No ClinGen
Ensembl
rs764882157
CA7137212
1075 C>F No ClinGen
ExAC
gnomAD
CA389299910
rs1210574471
1076 Q>H No ClinGen
TOPMed
CA389299913
rs1466166398
1077 Q>* No ClinGen
TOPMed
gnomAD
TCGA novel 1077 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389299911
rs1466166398
1077 Q>K No ClinGen
TOPMed
gnomAD
CA389299918
rs1206614625
1077 Q>P No ClinGen
gnomAD
rs772918278
CA7137213
1078 V>F No ClinGen
ExAC
gnomAD
rs772918278
CA389299924
1078 V>I No ClinGen
ExAC
gnomAD
rs1230599282
CA389299970
1081 H>Q No ClinGen
TOPMed
CA7137214
rs762649803
1081 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs766007033
CA7137215
1082 L>V No ClinGen
ExAC
gnomAD
CA7137216
rs1555327405
1083 A>T No ClinGen
Ensembl
rs1159212704
CA389300073
1087 I>V No ClinGen
gnomAD
CA7137220
rs768137051
1089 S>R No ClinGen
ExAC
gnomAD
CA7137221
rs753065638
1090 N>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1092 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7137224
rs777933278
1093 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA7137225
rs777933278
1093 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA7137223
rs777933278
1093 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1332450351
CA389300273
1093 A>V No ClinGen
gnomAD
TCGA novel 1095 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1290236798
CA389300361
1097 F>L No ClinGen
gnomAD
CA257937443
rs1002469716
1098 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1037850729
CA257937453
1101 M>I No ClinGen
TOPMed
rs768638091
CA389300519
1101 M>R No ClinGen
ExAC
gnomAD
rs768638091
CA7137228
1101 M>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA389300533
rs1260061434
1102 D>Y No ClinGen
gnomAD
rs978928175
CA257937468
1103 S>C No ClinGen
TOPMed
gnomAD
CA257937457
rs978928175
1103 S>Y No ClinGen
TOPMed
gnomAD
CA389300623
rs1249413610
1105 R>G No ClinGen
TOPMed
CA257937471
rs926094830
1105 R>K No ClinGen
TOPMed
rs1201900439
CA389300646
1106 D>N No ClinGen
gnomAD
CA7137229
rs374795039
1106 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7137230
rs747966365
1107 A>V No ClinGen
ExAC
gnomAD
rs912019927
CA257937475
1108 I>L No ClinGen
TOPMed
gnomAD
CA389300769
rs1218754019
1110 D>Y No ClinGen
TOPMed
rs575552934
CA7137232
1111 Y>C No ClinGen
1000Genomes
ExAC
gnomAD
rs575552934
CA389300811
1111 Y>F No ClinGen
1000Genomes
ExAC
gnomAD
CA257937480
rs1025809274
1111 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1378657283
CA389300890
1113 A>V No ClinGen
gnomAD
rs1467903297
CA389300918
1114 L>P No ClinGen
gnomAD
CA7137234
rs770679930
1115 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA389300960
rs1375092883
1116 G>D No ClinGen
gnomAD
rs1270672055
CA389300978
1117 P>H No ClinGen
gnomAD
rs370097904
CA7137235
1120 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1310053404
CA389301077
1120 S>R No ClinGen
gnomAD
TCGA novel 1122 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7137236
rs372429210
1124 Q>R No ClinGen
ESP
ExAC
gnomAD
CA389301318
rs1410770300
1126 P>L No ClinGen
TOPMed
rs766882927
CA7137237
1126 P>S No ClinGen
ExAC
gnomAD
rs1367536972
CA389301333
1127 D>G No ClinGen
TOPMed
rs753252556
CA7137238
1128 W>R No ClinGen
ExAC
gnomAD
rs1235175219
CA389301397
1129 Q>H No ClinGen
TOPMed
gnomAD
rs761047114
CA7137239
1129 Q>K No ClinGen
ExAC
gnomAD
rs1277987028
CA389301552
1133 E>A No ClinGen
TOPMed
gnomAD
CA7137241
rs754180089
1136 E>G No ClinGen
ExAC
gnomAD
COSM1188790
CA7137240
rs764543033
1136 E>K lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1479377888
CA389301682
1137 A>T No ClinGen
gnomAD
CA257937516
rs921155963
1141 L>Q No ClinGen
Ensembl
rs1594742928
CA389301821
1142 K>N No ClinGen
Ensembl
rs1435373180
CA389301824
1143 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs779092068
CA7137243
1143 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7137244
rs750586325
1144 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1368877167
CA389301899
1147 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7137245
rs758476040
1147 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs1594742947
CA389302030
1151 L>M No ClinGen
Ensembl
rs1294141363
CA389302065
1152 M>I No ClinGen
gnomAD
rs779954505
CA7137246
1152 M>K No ClinGen
ExAC
TOPMed
gnomAD
rs779954505
CA389302057
1152 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs1478003248
CA389302084
1153 A>G No ClinGen
gnomAD
CA389302077
rs1594742962
1153 A>S No ClinGen
Ensembl
CA389302089
rs1478003248
1153 A>V No ClinGen
gnomAD
CA389302124
rs1369795736
1154 P>L No ClinGen
gnomAD
rs1388492774
CA389302172
1156 S>F No ClinGen
gnomAD
rs200952720
CA7137247
1157 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1276336110
CA389302241
1159 P>S No ClinGen
gnomAD
rs777661158
CA7137249
1161 R>C Variant assessed as Somatic; 4.798e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs777661158
CA389302302
1161 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs749094268
CA7137250
1161 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA389302373
rs1330955302
1164 V>M No ClinGen
TOPMed
CA7137253
rs759198850
1166 V>M No ClinGen
ExAC
gnomAD
rs774816011
CA7137255
1169 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs764502613
CA7137257
1172 T>K No ClinGen
ExAC
TOPMed
gnomAD
COSM1135558
rs764502613
CA389302591
1172 T>M kidney Variant assessed as Somatic; 4.663e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 1173 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389302646
rs1165717119
1175 L>H No ClinGen
gnomAD
CA7137260
rs765518334
1181 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA389302937
rs376021092
1184 H>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7137262
rs376021092
1184 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs574649411
CA389302951
1185 P>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
TOPMed
gnomAD
rs574649411
CA257937567
1185 P>L No ClinGen
1000Genomes
TOPMed
gnomAD
rs1454655839
CA389302948
1185 P>S No ClinGen
Ensembl
CA389302945
rs1454655839
1185 P>T No ClinGen
Ensembl
rs1386059842
CA389302962
1186 I>V No ClinGen
gnomAD
CA7137263
rs763317583
1187 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs1359575549
CA389303002
1187 A>V No ClinGen
TOPMed
gnomAD
rs1213668544
CA389303053
1189 T>S No ClinGen
gnomAD
CA7137264
rs751558441
1192 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA257937573
rs982492930
1192 P>S No ClinGen
TOPMed
CA7137267
rs749183752
1195 P>R No ClinGen
ExAC
CA7137266
rs777841839
1195 P>S No ClinGen
ExAC
gnomAD
CA389303253
rs1465707202
1196 D>G No ClinGen
TOPMed
gnomAD
rs1465707202
CA389303250
1196 D>V No ClinGen
TOPMed
gnomAD
rs1401905902
CA389303315
1198 E>G No ClinGen
TOPMed
gnomAD
rs766822337
CA7137270
1202 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA389303531
rs369114620
1205 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7137271
rs369114620
1205 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7137272
rs775107719
1206 G>R No ClinGen
ExAC
gnomAD
rs1416151635
COSM1188791
CA389303563
1206 G>V lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs746486708
CA389303601
1207 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1022604616
CA257937601
1209 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA7137274
rs768152222
1210 Y>C No ClinGen
ExAC
gnomAD
rs1417104418
CA389303683
1211 A>D No ClinGen
TOPMed
gnomAD
rs929464277
CA257937605
1214 W>L No ClinGen
TOPMed
gnomAD
CA7137275
rs777127282
1215 A>T No ClinGen
ExAC
gnomAD
CA389303738
rs1566487599
1216 L>F No ClinGen
Ensembl
TCGA novel 1217 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762266975
CA7137276
1217 K>R No ClinGen
ExAC
gnomAD
rs1047918223
CA257937615
1218 H>Y No ClinGen
TOPMed
rs376334971
CA7137278
1221 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7137279
rs763274425
COSM1470664
1221 R>H prostate [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA389303830
rs763274425
1221 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs1007988240
CA257937618
1223 I>T No ClinGen
TOPMed
gnomAD
rs1267711099
CA389303869
1223 I>V No ClinGen
gnomAD
CA389303926
rs1566487628
1226 T>A No ClinGen
Ensembl
CA7137282
rs751722096
1226 T>S No ClinGen
ExAC
gnomAD
rs755029945
CA257937624
1227 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs755029945
CA7137283
1227 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1167957806
CA389303979
1228 V>M No ClinGen
TOPMed
CA389304016
rs1211175026
1229 V>A No ClinGen
gnomAD
rs757212524
CA7137286
1231 D>H No ClinGen
ExAC
gnomAD
CA389304079
rs1187463482
1232 L>H No ClinGen
gnomAD
CA7137287
rs778901743
1233 S>C No ClinGen
ExAC
gnomAD
rs1473610709
CA389304190
1236 S>F No ClinGen
gnomAD
rs1391536662
CA389304207
1237 R>P No ClinGen
TOPMed
CA257937639
rs996683229
1237 R>W No ClinGen
TOPMed
gnomAD
CA7137288
rs144623810
1238 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA257937661
rs377707810
1240 A>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7137289
rs138467096
1240 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7137290
rs377707810
1240 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs982221075
CA257937667
1242 P>S No ClinGen
TOPMed
CA7137292
rs768081201
1243 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1350631470
CA389304361
1244 V>M No ClinGen
gnomAD
CA7137295
rs368016452
1245 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs375519821
CA7137293
1245 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7137297
rs531016898
1248 R>C No ClinGen
1000Genomes
ExAC
gnomAD
rs542139168
CA7137298
1248 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 1248 R>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759768969
CA7137300
1250 V>D No ClinGen
ExAC
gnomAD
rs774445013
CA7137299
1250 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs767728039
CA7137301
1253 A>S No ClinGen
ExAC
gnomAD
TCGA novel 1253 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7137302
rs752803644
1257 R>* No ClinGen
ExAC
gnomAD
TCGA novel 1257 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389304757
rs1396822878
1258 W>* No ClinGen
TOPMed
CA389304770
rs1231127749
1258 W>C No ClinGen
gnomAD
rs761883672
CA7137303
1261 L>S No ClinGen
ExAC
gnomAD
rs777966712
CA257937706
1263 Q>R No ClinGen
Ensembl
rs1307157884
CA389304932
1264 D>E No ClinGen
TOPMed
CA389304928
rs1403155011
1264 D>V No ClinGen
TOPMed
gnomAD
CA257937710
rs753256579
1265 K>N No ClinGen
Ensembl
CA389305073
rs1191670919
1267 K>M No ClinGen
gnomAD
rs765263797
CA7137304
1268 R>G No ClinGen
ExAC
gnomAD
CA7137305
rs750315913
1268 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA389305124
rs1172636437
1269 A>D No ClinGen
gnomAD
TCGA novel 1269 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751192692
CA7137308
1274 L>F No ClinGen
ExAC
TCGA novel 1274 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1472146683
CA389305296
1275 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA389305353
rs1277118098
1276 Q>* No ClinGen
gnomAD
CA389305407
rs778158529
1277 G>D No ClinGen
ExAC
gnomAD
rs371855060
CA7137312
1277 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7137313
rs778158529
1277 G>V No ClinGen
ExAC
gnomAD
rs759726589
CA7137318
1281 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA389305569
rs1594743213
1282 N>T No ClinGen
Ensembl
CA7137319
rs374730919
1283 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs775781760
CA7137320
1283 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs775781760
CA257937741
1283 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA7137323
rs750357738
1286 T>I No ClinGen
ExAC
gnomAD
CA389305695
rs1594743226
1286 T>P No ClinGen
Ensembl
rs766132981
CA389305761
1288 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs766132981
CA7137325
1288 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA7137326
rs751334932
1288 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA389305777
rs1298862850
1289 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA7137328
rs780807825
1290 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA7137329
rs752292028
1291 M>I No ClinGen
ExAC
gnomAD
CA389305847
rs1269811568
1292 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7137331
rs755628226
1293 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA7137330
rs755628226
1293 R>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1293 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389305962
rs1211641539
1296 Q>R No ClinGen
gnomAD
rs749786689
CA7137332
1297 V>L No ClinGen
ExAC
gnomAD
rs189972799
CA7137333
1299 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1013940453
CA257937774
1301 F>L No ClinGen
Ensembl
rs1594743260
CA389306136
1303 D>A No ClinGen
Ensembl
rs772483093
CA7137336
1306 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA7137339
rs768878706
COSM955077
1308 V>I Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA389306274
rs1450372895
1309 C>S No ClinGen
TOPMed
CA389306351
rs1594743286
1311 H>Q No ClinGen
Ensembl
rs758082819
CA7137340
1313 S>L No ClinGen
ExAC
gnomAD
rs758082819
CA389306395
1313 S>W No ClinGen
ExAC
gnomAD
CA257937791
rs746836385
1315 Y>H No ClinGen
Ensembl
rs768509689
CA257937796
1316 C>Y No ClinGen
TOPMed
gnomAD
rs766332432
CA7137342
1319 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA257937805
rs776363411
1319 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA7137343
COSM1515302
rs776363411
1319 R>L lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 1322 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389306612
rs1291572216
1324 C>F No ClinGen
gnomAD
TCGA novel 1325 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389306736
rs1594743315
1330 Y>C No ClinGen
Ensembl
rs1261230206
CA389306808
1333 S>L No ClinGen
gnomAD
rs1594743328
CA389306830
1334 P>L No ClinGen
Ensembl
CA389306880
rs763566221
1336 S>R No ClinGen
ExAC
gnomAD
rs371735612
CA7137349
1337 P>S Variant assessed as Somatic; 9.289e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs757771394
CA7137350
1338 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA389306909
rs757771394
1338 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1458477475
CA389306985
1341 L>H No ClinGen
TOPMed
CA389306991
rs1458477475
1341 L>P No ClinGen
TOPMed
CA7137353
rs746309161
1343 F>L No ClinGen
ExAC
gnomAD
rs371099138
CA257937830
1347 P>S No ClinGen
Ensembl
rs538061448
CA7137354
COSM469871
1349 T>M kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1403335446
CA389307148
1349 T>S No ClinGen
gnomAD
CA389307161
rs1182065331
1350 P>A No ClinGen
gnomAD
rs1367580334
CA389307173
1351 T>A No ClinGen
TOPMed
gnomAD
rs1464448323
CA389307188
1351 T>I No ClinGen
TOPMed
CA7137356
rs747284202
1352 Y>F No ClinGen
ExAC
gnomAD
TCGA novel 1352 Y>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1594743381
CA389307252
1354 H>P No ClinGen
Ensembl
CA389307331
rs1318611091
1358 V>M No ClinGen
TOPMed
gnomAD
rs748243389
CA257937848
1359 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs748243389
CA7137359
1359 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1363903002
CA389307399
1361 G>D No ClinGen
TOPMed
rs375921086
CA7137361
1361 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs775248149
CA7137364
1364 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7137365
rs760361213
1364 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs763798922
CA389307475
1365 F>I No ClinGen
ExAC
TOPMed
gnomAD
CA7137366
rs763798922
1365 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1566487942
CA389307482
1365 F>S No ClinGen
Ensembl
rs1333950974
CA389307499
1366 G>A No ClinGen
TOPMed
CA7137367
rs753348018
1366 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1417909153
CA389307508
1367 Q>* No ClinGen
gnomAD
rs1413068964
CA389307513
1367 Q>R No ClinGen
TOPMed
rs756807669
CA7137368
1369 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA389307565
rs1436957771
1371 P>L No ClinGen
gnomAD
CA389307586
rs1594743421
1373 V>G No ClinGen
Ensembl
TCGA novel 1375 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1172024548
CA389307605
1375 L>V No ClinGen
gnomAD
rs1174897194
CA389307623
1376 T>I No ClinGen
TOPMed
rs1430520110
CA389307644
1378 C>Y No ClinGen
TOPMed
gnomAD
rs1190557127
CA389307651
1379 N>D No ClinGen
TOPMed
rs758950621
CA7137371
1379 N>S No ClinGen
ExAC
gnomAD
rs1306184420
CA389307715
1384 L>F No ClinGen
gnomAD
CA7137374
rs755209903
1387 E>K No ClinGen
ExAC
gnomAD
rs568146265
CA7137375
1391 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1329768082
CA389307868
1391 L>H No ClinGen
gnomAD
CA7137376
rs748250487
1392 W>* No ClinGen
ExAC
gnomAD
rs951006953
CA257937898
1394 A>S No ClinGen
TOPMed
rs769950057
CA7137377
1395 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA257937901
rs773467592
1395 R>W No ClinGen
gnomAD
CA7137378
rs777784917
1396 G>V No ClinGen
ExAC
gnomAD
rs1192101541
CA389307951
1397 F>L No ClinGen
gnomAD
CA389307986
rs1294809348
1399 S>F No ClinGen
TOPMed
CA7137379
rs374418928
1404 P>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1394728713
CA389308073
1404 P>S No ClinGen
gnomAD
CA7137380
rs771970441
1405 L>I No ClinGen
ExAC
gnomAD
CA389308135
rs1461494086
1407 H>P No ClinGen
gnomAD
CA389308139
rs1461494086
1407 H>R No ClinGen
gnomAD
CA7137382
rs760506948
1408 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs768279369
CA7137383
1413 Y>H No ClinGen
ExAC
gnomAD
rs1442856086
CA389308273
1414 I>V No ClinGen
TOPMed
gnomAD
rs1301037438
CA389308301
1415 I>T No ClinGen
gnomAD
CA389308321
rs1369939998
1416 S>Y No ClinGen
gnomAD
rs1214868529
CA389308332
1417 L>F No ClinGen
gnomAD
rs1445355696
CA389308355
1418 T>I No ClinGen
TOPMed
CA389308344
rs1594743494
1418 T>P No ClinGen
Ensembl
rs376235359
CA257937919
1419 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7137385
rs376235359
1419 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA389308371
rs1594743504
1419 S>P No ClinGen
Ensembl
rs764887892
CA7137386
1420 G>D No ClinGen
ExAC
gnomAD
rs1313842556
CA389308469
1424 L>F No ClinGen
TOPMed
CA7137388
rs375065906
1425 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs752053594
CA7137390
1426 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1433867727
CA389308556
1428 Y>C No ClinGen
Ensembl
rs1317282176
CA389308566
1429 R>* No ClinGen
gnomAD
CA389308568
COSM955081
rs1252835429
1429 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs202118734
CA7137392
1433 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7137393
rs752986848
1433 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM163044
rs202118734
CA7137391
1433 R>W breast [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA389308625
rs1428024988
1434 G>C No ClinGen
gnomAD
CA389308621
rs1428024988
1434 G>S No ClinGen
gnomAD
rs1420081006
CA389308644
1435 S>F No ClinGen
TOPMed
gnomAD
TCGA novel 1436 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749370580
CA7137397
1438 A>S No ClinGen
ExAC
gnomAD
rs779983688
CA7137399
1439 V>E No ClinGen
ExAC
rs746856903
CA7137400
1443 T>I No ClinGen
ExAC
gnomAD
rs746856903
CA389308743
1443 T>N No ClinGen
ExAC
gnomAD
rs1359380799
CA389308771
1446 K>M No ClinGen
gnomAD
rs1381185758
CA389308786
1448 G>A No ClinGen
gnomAD
rs1196783032
CA389308784
1448 G>S No ClinGen
gnomAD
CA389308797
rs1254996588
1450 Q>* No ClinGen
gnomAD
CA389308829
rs769561880
1452 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs761563648
CA7137403
1452 G>S No ClinGen
ExAC
gnomAD
CA7137404
rs769561880
1452 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1317901011
CA389308872
1455 W>* No ClinGen
gnomAD
CA389308883
rs1218333404
1456 W>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1240600586
CA389308893
1456 W>C No ClinGen
gnomAD
CA7137405
rs143110133
1458 L>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA389308950
rs1188878801
1459 P>L No ClinGen
gnomAD
TCGA novel 1459 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7137406
rs762564564
1460 K>E No ClinGen
ExAC
gnomAD
rs765919110
CA7137407
1460 K>R No ClinGen
ExAC
gnomAD
CA389309031
rs1162723295
1463 P>A No ClinGen
gnomAD
CA389309045
rs1385312926
1463 P>L No ClinGen
gnomAD
rs752136494
CA7137408
1464 A>V No ClinGen
ExAC
gnomAD
rs1409541674
CA389309103
1467 V>M No ClinGen
TOPMed
CA257937999
rs1009865264
1469 P>L No ClinGen
TOPMed
rs1452656617
CA389309159
1469 P>S No ClinGen
gnomAD
rs752973891
CA7137411
1470 H>Y No ClinGen
ExAC
gnomAD
TCGA novel 1471 A>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7137412
rs756426464
1471 A>G No ClinGen
ExAC
gnomAD
CA389309198
rs1356831029
1471 A>T No ClinGen
gnomAD
CA389309244
rs1374620697
1472 M>I No ClinGen
gnomAD
rs777963123
CA7137413
1472 M>V No ClinGen
ExAC
gnomAD
COSM3690049
rs199709655
CA7137414
1476 P>L large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1042301209
CA257938009
1476 P>T No ClinGen
TOPMed
CA7137415
rs544959631
1477 N>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1003361620
CA257938021
1477 N>Y No ClinGen
TOPMed
gnomAD
CA7137417
CA389309368
rs778926553
1478 L>F No ClinGen
ExAC
gnomAD
rs1282672590
CA389309375
1479 L>M No ClinGen
gnomAD
CA389309395
rs1484736195
1480 A>T No ClinGen
gnomAD
CA389309427
rs1236858889
1481 L>S No ClinGen
gnomAD
CA389309452
rs1171815729
1482 Q>R No ClinGen
TOPMed
gnomAD
rs781103975
CA7137419
1484 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA257938030
rs558626844
1487 T>N No ClinGen
1000Genomes
rs1594743662
CA389309538
1487 T>P No ClinGen
Ensembl
rs747882266
CA7137420
1489 A>S No ClinGen
ExAC
gnomAD
CA7137424
rs770589936
1490 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs773713380
CA7137425
1491 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA389309648
rs1432349637
1492 I>V No ClinGen
gnomAD
rs377683697
CA7137426
CA257938047
1494 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1373075048
CA389309789
1498 G>E No ClinGen
gnomAD
rs761045897
CA7137429
CA389309780
1498 G>R No ClinGen
ExAC
gnomAD
rs754093809
CA7137431
1500 K>I No ClinGen
ExAC
gnomAD
CA7137434
rs750461863
1503 G>V No ClinGen
ExAC
gnomAD
CA389309914
rs1367469425
1504 S>F No ClinGen
TOPMed
rs1439629034
CA389309905
1504 S>P No ClinGen
TOPMed
gnomAD
CA7137435
rs367917534
1506 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7137436
rs367917534
1506 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA389309963
rs1438887159
1508 S>G No ClinGen
gnomAD
CA389310000
rs756003908
1509 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA7137438
rs756003908
1509 S>Y No ClinGen
ExAC
TOPMed
gnomAD
CA7137440
rs748999477
1512 N>T No ClinGen
ExAC
gnomAD
rs1295585274
CA389310081
1513 S>L No ClinGen
Ensembl
CA7137441
rs770677942
1515 S>G No ClinGen
ExAC
gnomAD
rs1411099883
CA389310128
1515 S>R No ClinGen
gnomAD
CA7137445
rs775869293
1517 D>G No ClinGen
ExAC
gnomAD
CA7137444
rs767958088
1517 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 1519 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7137446
rs761134037
1519 E>K No ClinGen
ExAC
gnomAD
CA7137447
rs764468087
1521 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1270977150
CA389310288
1522 L>Q No ClinGen
gnomAD
rs200445194
CA7137448
1522 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7137451
COSM955082
rs750601148
1523 L>F Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1566488242
CA389310300
1523 L>R No ClinGen
Ensembl
CA7137453
rs766440814
1524 M>I No ClinGen
ExAC
gnomAD
rs758411500
CA7137452
1524 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs368652110
CA389310363
1526 K>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7137454
rs368652110
1526 K>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA389310399
rs1207780570
1528 D>N No ClinGen
TOPMed
CA389310436
rs1594743772
1529 K>T No ClinGen
Ensembl
CA7137457
rs753683004
1530 K>Q No ClinGen
ExAC
gnomAD
CA389310503
rs1476128648
1532 R>K No ClinGen
gnomAD
CA389310532
rs1165606503
1533 V>A No ClinGen
gnomAD
rs778448529
CA7137459
1534 W>S No ClinGen
ExAC
TOPMed
gnomAD
CA389310611
rs1167734594
1537 P>L No ClinGen
TOPMed
gnomAD
CA389310616
rs1167734594
1537 P>R No ClinGen
TOPMed
gnomAD
rs560584806
CA257938101
1538 T>A No ClinGen
1000Genomes
TOPMed
gnomAD
COSM955084
rs1386496520
CA389310637
1538 T>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA7137464
rs769144777
1541 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7137463
rs532149352
1541 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs112761553
CA257938112
1542 R>K No ClinGen
Ensembl
TCGA novel 1543 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1335539420
CA389310736
1543 D>Y No ClinGen
gnomAD
CA7137467
rs770129632
1547 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs552174983
CA7137468
1550 D>H No ClinGen
1000Genomes
ExAC
gnomAD
CA389310904
rs1261923874
1551 I>T No ClinGen
gnomAD
rs17103672
VAR_037861
CA7137469
1551 I>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7137472
rs751661409
1555 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs760763027
CA7137473
1555 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA389311026
rs1159558262
1557 Q>* No ClinGen
gnomAD
rs764115157
CA7137475
1559 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs764115157
CA7137474
1559 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA7137477
rs778733327
1560 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750069211
CA7137478
1561 E>D No ClinGen
ExAC
gnomAD
rs1416629255
CA389311127
1561 E>K No ClinGen
TOPMed
gnomAD
rs758049675
CA7137479
1563 Y>C No ClinGen
ExAC
gnomAD
TCGA novel 1564 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389311214
rs1187340946
1564 K>R No ClinGen
TOPMed
TCGA novel 1564 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779603320
CA7137480
1565 K>* No ClinGen
ExAC
gnomAD
CA389311281
rs1261134700
1565 K>N No ClinGen
TOPMed
gnomAD
CA7137481
rs746506554
1567 R>C No ClinGen
ExAC
TOPMed
gnomAD
COSM955086
rs769142864
CA257938155
1567 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs769142864
CA257938158
1567 R>L No ClinGen
TOPMed
gnomAD
CA389311422
rs1485729905
1570 G>E No ClinGen
gnomAD
rs1254746125
CA389311459
1571 W>* No ClinGen
gnomAD
rs531468217
CA7137484
1573 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1365967174
CA389311559
1576 Q>H No ClinGen
gnomAD
CA389311568
rs1566488365
1577 E>Q No ClinGen
Ensembl
CA7137486
rs773603303
1581 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1003476713
CA257938168
1581 D>V No ClinGen
TOPMed
rs771182311
CA7137488
1582 Y>F No ClinGen
ExAC
gnomAD
CA389311701
rs1178823625
1583 C>R No ClinGen
TOPMed
gnomAD
rs774630777
CA257938178
1583 C>W No ClinGen
ExAC
gnomAD
TCGA novel 1584 R>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1296483420
CA389311811
1587 L>F No ClinGen
TOPMed
CA389311817
rs1395451022
1588 F>L No ClinGen
gnomAD
rs764692390
CA7137492
1591 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs764692390
CA389311889
1591 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA7137493
rs199717611
1592 R>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7137494
rs545743634
1592 R>Q No ClinGen
ExAC
gnomAD
CA389311956
rs1212537633
1595 I>T No ClinGen
gnomAD
rs533737076
CA7137498
1597 S>R No ClinGen
1000Genomes
ExAC
gnomAD
rs749999800
CA7137499
1598 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7137500
rs780632124
1599 L>F No ClinGen
ExAC
gnomAD
rs1436464254
CA389312149
1604 S>A No ClinGen
gnomAD
rs756612498
CA7137502
1605 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs1172003209
CA389312198
1606 W>* No ClinGen
gnomAD
TCGA novel 1607 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1608 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389312274
rs1594743933
1610 S>A No ClinGen
Ensembl
rs758029753
CA257938216
1610 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1594743939
CA389312294
1611 T>P No ClinGen
Ensembl
TCGA novel 1612 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM432973
rs746050976
CA7137507
1615 S>L Variant assessed as Somatic; 4.643e-05 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA389312382
rs746050976
1615 S>W No ClinGen
ExAC
TOPMed
gnomAD
CA7137509
rs775691938
1616 N>S No ClinGen
ExAC
CA389312446
rs1225792345
1619 I>F No ClinGen
gnomAD
rs765204240
CA7137511
1620 E>K No ClinGen
ExAC
gnomAD
rs765204240
CA389312476
1620 E>Q No ClinGen
ExAC
gnomAD
rs1594743966
CA389312511
1621 V>G No ClinGen
Ensembl
CA389312503
rs1328089429
1621 V>L No ClinGen
TOPMed
gnomAD
rs772962674
CA7137512
1622 V>M No ClinGen
ExAC
gnomAD
rs762806768
CA7137513
1624 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1341645747
CA389312635
1626 T>I No ClinGen
TOPMed
rs369343954
CA389312640
1627 I>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7137516
rs369343954
1627 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel
CA389312699
rs779512856
1628 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
TOPMed
gnomAD
NCI-TCGA
CA7137518
rs752248841
1630 E>K No ClinGen
ExAC
gnomAD
rs752248841
CA389312723
1630 E>Q No ClinGen
ExAC
gnomAD
CA7137520
rs189237524
1636 L>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1638 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1638 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1429231617
CA389312986
1639 A>G No ClinGen
gnomAD
CA257938248
rs868474525
1641 P>S No ClinGen
gnomAD
rs868474525
CA389313027
1641 P>T No ClinGen
gnomAD
TCGA novel 1643 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7137522
rs757731670
1643 T>N No ClinGen
ExAC
gnomAD
rs1394955245
CA389313102
1644 R>K No ClinGen
TOPMed
gnomAD
CA389313108
rs1394955245
1644 R>T No ClinGen
TOPMed
gnomAD
rs746145131
CA7137524
1645 W>* No ClinGen
ExAC
gnomAD
rs1594744011
CA389313150
1646 V>G No ClinGen
Ensembl
rs1366412437
CA389313139
1646 V>M No ClinGen
gnomAD
rs913013921
CA257938259
1648 A>G No ClinGen
TOPMed
rs913013921
CA389313180
1648 A>V No ClinGen
TOPMed
CA7137526
rs368787980
1649 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1040074365
CA257938265
1650 P>S No ClinGen
Ensembl
rs191929972
CA7137529
1653 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs191929972
CA389313272
1653 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1307765782
CA389313297
1654 Y>C No ClinGen
Ensembl
CA7137532
rs766210479
1654 Y>H No ClinGen
ExAC
CA7137533
rs201409522
1657 T>M Variant assessed as Somatic; 4.642e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs767145009
CA7137535
1658 A>T No ClinGen
ExAC
gnomAD
rs752235850
CA7137536
1663 L>M No ClinGen
ExAC
rs1261198000
CA389313636
1671 W>* No ClinGen
gnomAD
rs763472495
CA7137538
1671 W>C No ClinGen
ExAC
TOPMed
gnomAD
CA389313638
rs1261198000
1671 W>S No ClinGen
gnomAD
CA389313738
rs1418431453
1676 R>K No ClinGen
gnomAD
CA389313756
rs1462836405
1677 L>V No ClinGen
TOPMed
gnomAD
CA7137540
rs757821591
1678 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA389313809
rs1275209338
1679 A>V No ClinGen
TOPMed
rs1290260614
CA389313828
1680 A>G No ClinGen
gnomAD
CA389313848
rs1594744068
1681 Q>P No ClinGen
Ensembl
CA389313879
rs1337793954
1682 G>E No ClinGen
gnomAD
rs540426935
CA7137541
1684 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7137544
rs758775630
1687 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA7137543
COSM3814650
rs758775630
1687 R>Q Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7137542
rs528567243
1687 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1227071805
CA389313997
1688 H>Y No ClinGen
gnomAD
rs532821287
CA7137546
1689 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs781109621
CA7137547
1690 L>I No ClinGen
ExAC
gnomAD
rs1328968980
CA389314060
1690 L>R No ClinGen
TOPMed
rs1385680659
CA389314187
1696 A>S No ClinGen
TOPMed
rs759341474
CA7137551
1700 Q>H No ClinGen
ExAC
gnomAD
rs771697081
CA7137552
1701 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1411754978
CA389314234
1702 A>V No ClinGen
TOPMed
rs376539582
CA7137554
1703 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376539582
CA7137553
1703 S>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA257938332
rs969384970
1705 S>N No ClinGen
gnomAD
CA389314274
rs969384970
1705 S>T No ClinGen
gnomAD
CA389314292
rs765850035
1706 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs765850035
CA7137558
1706 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7137557
rs762480375
1706 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA389314323
rs1446536675
1708 L>F No ClinGen
gnomAD
CA389314340
rs1254950087
1709 Q>* No ClinGen
TOPMed
rs1284063044
CA389314376
1710 F>C No ClinGen
gnomAD
CA7137560
rs758861483
1711 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs750891833
CA7137559
1711 P>S No ClinGen
ExAC
gnomAD
rs375430981
CA257938342
1712 C>F No ClinGen
Ensembl
rs374015737
CA7137561
1713 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7137563
rs755124186
1714 T>A No ClinGen
ExAC
gnomAD
CA7137565
rs367836472
1714 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7137564
rs367836472
1714 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs912950166
CA389314527
1717 G>R No ClinGen
gnomAD
rs912950166
CA257938356
1717 G>W No ClinGen
gnomAD
CA7137568
rs374589341
1718 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA257938368
rs374589341
1718 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1566488651
CA389314546
1718 A>V No ClinGen
Ensembl
rs1173858155
CA389314628
1724 R>K No ClinGen
gnomAD
rs771924412
CA7137569
1725 A>D No ClinGen
ExAC
gnomAD
rs775128958
CA7137570
1726 L>P No ClinGen
ExAC
gnomAD
CA389316360
rs1441233330
1727 K>R No ClinGen
TOPMed
TCGA novel 1729 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1732 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1376624354
CA389316460
1733 H>D No ClinGen
gnomAD
rs367617198
CA257938386
1733 H>Q No ClinGen
Ensembl
rs1441991614
CA389316463
1733 H>R No ClinGen
gnomAD
CA389316466
rs1305827739
1734 G>R No ClinGen
gnomAD
TCGA novel 1738 A>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7137575
rs200693824
1738 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1453092400
CA389316514
1740 S>F No ClinGen
TOPMed
CA389316525
rs1594744198
1741 L>Q No ClinGen
Ensembl
TCGA novel 1742 P>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389316575
rs1316963054
1744 L>P No ClinGen
TOPMed
gnomAD
CA7137579
rs751865948
1745 H>Y No ClinGen
ExAC
gnomAD
rs1248053885
CA389316602
1746 L>V No ClinGen
gnomAD
rs1171535380
CA389316613
1747 A>T No ClinGen
gnomAD
CA389316621
rs1419567601
1747 A>V No ClinGen
gnomAD
CA7137581
rs767647423
1749 R>T No ClinGen
ExAC
gnomAD
CA389316684
rs1400045513
1751 S>A No ClinGen
gnomAD
COSM698063
CA7137583
rs756219353
1754 D>Y lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1005390562
CA257938409
1755 A>V No ClinGen
TOPMed
CA389316771
rs1436003325
1756 T>I No ClinGen
gnomAD
CA7137585
rs777988787
1757 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA389316809
rs1255998637
1758 F>L No ClinGen
gnomAD
rs1050695479
CA257938420
1759 K>Q No ClinGen
Ensembl
rs901859719
CA257938423
1761 L>V No ClinGen
TOPMed
CA7137587
rs779970498
1762 T>S No ClinGen
ExAC
gnomAD
rs768427936
CA7137589
1763 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA389316901
rs1197718669
1764 G>V No ClinGen
TOPMed
gnomAD
CA7137590
rs776449975
1768 L>F No ClinGen
ExAC
gnomAD
CA7137591
rs747751902
1768 L>P No ClinGen
ExAC
gnomAD
rs376323843
CA7137592
1769 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA257938436
rs371368027
1769 T>P No ClinGen
Ensembl
rs534007372
CA7137594
CA7137595
1770 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA389317016
rs1165414825
1771 P>L No ClinGen
gnomAD
rs1405047712
CA389317037
1773 W>R No ClinGen
gnomAD
rs1036951977
CA257938453
1774 W>R No ClinGen
Ensembl
CA389317057
rs1594744297
1775 E>G No ClinGen
Ensembl
rs759824815
CA389317054
1775 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs759824815
CA7137597
1775 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA389317069
rs1333883969
1776 M>I No ClinGen
TOPMed
CA389317080
rs1362540271
1778 S>C No ClinGen
gnomAD
CA7137598
rs767829132
1779 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1377742103
CA389317099
1781 I>L No ClinGen
TOPMed
TCGA novel 1783 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200814392
CA7137599
1786 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7137601
rs764202374
1788 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7137603
rs758422413
1794 V>A No ClinGen
ExAC
gnomAD
rs536726550
CA389317201
1796 E>G No ClinGen
Ensembl
CA257938474
rs536726550
1796 E>V No ClinGen
Ensembl
CA389317215
rs201902763
1799 E>* No ClinGen
1000Genomes
ExAC
gnomAD
CA7137607
rs781109193
1799 E>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7137606
rs201902763
1799 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs1002655975
CA257938480
1800 L>I No ClinGen
TOPMed
rs1367098407
CA389317246
1803 R>M No ClinGen
gnomAD
rs1594744341
CA389317253
1804 V>G No ClinGen
Ensembl
rs747839895
CA7137608
1805 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA389317261
rs1339608892
1806 D>H No ClinGen
TOPMed
CA7137609
rs769564116
1808 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs938993023
CA389317288
1809 S>R No ClinGen
TOPMed
rs1297702227
CA389317292
1810 E>V No ClinGen
gnomAD
TCGA novel 1812 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770409484
CA7137612
1812 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA7137613
rs774752532
1813 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1338493151
CA389317314
1813 E>V No ClinGen
gnomAD
rs760041145
CA7137614
1814 N>H No ClinGen
ExAC
gnomAD
rs1566488892
CA389317323
1814 N>K No ClinGen
Ensembl
TCGA novel 1815 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389317330
rs1355473794
1815 R>S No ClinGen
gnomAD
rs772476072
CA7137616
1816 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs775804688
CA389317333
1816 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs775804688
CA7137617
1816 R>L No ClinGen
ExAC
gnomAD
CA389317342
rs1485678225
1817 F>L No ClinGen
gnomAD
CA7137618
rs760956364
1818 K>E No ClinGen
ExAC
gnomAD
rs754037307
CA7137620
1819 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs201284188
CA7137619
1819 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7137621
rs761826069
1821 S>G No ClinGen
ExAC
TOPMed
TCGA novel 1823 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA389317410
rs1438137128
1827 N>D No ClinGen
TOPMed
gnomAD
rs1312293720
CA389317428
1829 G>D No ClinGen
gnomAD
CA389317462
rs1361420119
1834 L>F No ClinGen
gnomAD
rs1395784708
CA389317457
1834 L>M No ClinGen
gnomAD
CA389317477
rs1174278471
1837 L>I No ClinGen
gnomAD
CA389317479
rs1566488936
1837 L>P No ClinGen
Ensembl
rs781199241
CA7137625
1838 P>H No ClinGen
ExAC
gnomAD
CA257938545
rs975820379
1839 R>S No ClinGen
TOPMed
gnomAD
CA257938548
rs1030125007
1842 S>N No ClinGen
gnomAD
CA389317516
rs1566488962
1843 S>N No ClinGen
Ensembl
CA389317578
rs1594744425
1847 V>G No ClinGen
Ensembl
rs555050238
CA389317570
1847 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7137626
rs555050238
1847 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7137627
rs755914335
1848 G>C No ClinGen
ExAC
gnomAD
rs777571893
CA7137628
1848 G>D No ClinGen
ExAC
gnomAD
TCGA novel 1848 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7137629
rs748932229
1849 P>S No ClinGen
ExAC
gnomAD
CA7137630
rs770370515
1851 Y>H No ClinGen
ExAC
gnomAD
CA389317655
rs1199816879
1853 G>R No ClinGen
TOPMed
gnomAD
CA389317678
rs1594744444
1854 D>A No ClinGen
Ensembl
CA7137634
COSM1218140
rs775892926
1855 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA389317691
rs1305524554
1855 R>W No ClinGen
TOPMed
gnomAD
rs1594744458
CA389317720
1857 S>G No ClinGen
Ensembl
CA389317726
rs1371762480
1857 S>N No ClinGen
TOPMed
CA389317733
rs1299993308
1857 S>R No ClinGen
TOPMed
rs768946629
CA7137636
1859 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1174108616
CA389317758
1860 L>F No ClinGen
TOPMed
gnomAD
rs1174108616
CA389317760
1860 L>I No ClinGen
TOPMed
gnomAD
rs1174108616
CA389317762
1860 L>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs776736984
CA7137637
1861 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA257938582
rs909436661
1861 Y>H No ClinGen
Ensembl
rs1402198954
CA389317797
1862 R>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA257938590
rs373108431
1864 W>* No ClinGen
ESP
TOPMed
CA7137638
rs762068790
1865 G>S No ClinGen
ExAC
gnomAD
COSM1218139
rs1330287847
CA389317866
1867 P>S large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1388118011
CA389317905
1869 P>L No ClinGen
gnomAD
CA389317932
rs1356502904
1871 K>Q No ClinGen
Ensembl
rs1219797290
CA389317972
1873 G>E No ClinGen
gnomAD
CA389317969
rs1219797290
1873 G>V No ClinGen
gnomAD
CA389317978
rs750509257
1874 C>G No ClinGen
ExAC
TOPMed
gnomAD
CA7137640
rs750509257
1874 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs1198353487
CA389317985
1874 C>S No ClinGen
gnomAD
CA389317983
rs1198353487
1874 C>Y No ClinGen
gnomAD
CA7137641
rs759603622
1876 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA257938604
rs867455391
1877 P>H No ClinGen
Ensembl
CA389318034
rs1189695615
1878 S>N No ClinGen
gnomAD
CA257938608
rs866697390
1881 M>I No ClinGen
gnomAD
rs1194337988
CA389318094
1882 K>R No ClinGen
gnomAD
rs767574535
CA257938614
1883 A>S No ClinGen
ExAC
gnomAD
CA7137642
rs767574535
1883 A>T No ClinGen
ExAC
gnomAD
CA257938618
rs996113992
1884 F>L No ClinGen
TOPMed
gnomAD
CA389318146
rs1169743905
1885 A>V No ClinGen
gnomAD
TCGA novel 1886 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA257938621
rs1050413835
1886 K>R No ClinGen
TOPMed
CA389318187
rs1350247589
1888 G>D No ClinGen
gnomAD
rs752615470
CA7137643
1890 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1389392684
CA389318252
1893 F>L No ClinGen
gnomAD
rs1164760591
CA389318309
1897 E>D No ClinGen
TOPMed
gnomAD
CA389318322
rs1218530793
1898 Q>H No ClinGen
TOPMed
gnomAD
CA389318311
rs1280678219
1898 Q>K No ClinGen
gnomAD
rs772305906
CA257938631
1898 Q>R No ClinGen
gnomAD

No associated diseases with Q9P2P1

5 regional properties for Q9P2P1

Type Name Position InterPro Accession
domain Integrase, catalytic core 1609 - 1730 IPR001584
domain Ribonuclease H domain 1304 - 1450 IPR002156
domain Ribonuclease Zc3h12a-like, NYN domain 792 - 942 IPR021869
domain Reverse transcriptase/retrotransposon-derived protein, RNase H-like domain 1130 - 1228 IPR041577
domain Integrase zinc-binding domain 1536 - 1590 IPR041588

Functions

Description
EC Number
Subcellular Localization
  • Membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
cytoplasmic ribonucleoprotein granule A ribonucleoprotein granule located in the cytoplasm.
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

3 GO annotations of molecular function

Name Definition
endoribonuclease activity Catalysis of the hydrolysis of ester linkages within ribonucleic acid by creating internal breaks.
mRNA binding Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns.
RNA-DNA hybrid ribonuclease activity Catalysis of the endonucleolytic cleavage of RNA in RNA-DNA hybrids to 5'-phosphomonoesters.

3 GO annotations of biological process

Name Definition
DNA integration The process in which a DNA segment is incorporated into another, usually larger, DNA molecule such as a chromosome.
DNA repair The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.
RNA phosphodiester bond hydrolysis, endonucleolytic The chemical reactions and pathways involving the hydrolysis of internal 3',5'-phosphodiester bonds in one or two strands of ribonucleotides.

12 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A4FUB7 GIN1 Gypsy retrotransposon integrase-like protein 1 Bos taurus (Bovine) PR
Q6ZNG9 KRBA2 KRAB-A domain-containing protein 2 Homo sapiens (Human) PR
Q6R2W3 ZBED9 SCAN domain-containing protein 3 Homo sapiens (Human) PR
Q9UN19 DAPP1 Dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide Homo sapiens (Human) PR
O75113 N4BP1 NEDD4-binding protein 1 Homo sapiens (Human) PR
Q9QXT1 Dapp1 Dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide Mus musculus (Mouse) PR
Q94KB1 MLO14 MLO-like protein 14 Arabidopsis thaliana (Mouse-ear cress) PR
O80580 MLO15 MLO-like protein 15 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SMP1 XTH11 Probable xyloglucan endotransglucosylase/hydrolase protein 11 Arabidopsis thaliana (Mouse-ear cress) PR
O49621 MLO1 MLO-like protein 1 Arabidopsis thaliana (Mouse-ear cress) PR
Q9FK75 At5g45670 GDSL esterase/lipase At5g45670 Arabidopsis thaliana (Mouse-ear cress) PR
Q9FI00 MLO11 MLO-like protein 11 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MLLSGGDPPA QEWFMVQTKS KPRVQRQRLQ VQRIFRVKLN AFQSRPDTPY FWLQLEGPRE
70 80 90 100 110 120
NMGKAKEYLK GLCSPELWKE VRYPPILHCA FLGAQGLFLD CLCWSTLAYL VPGPPGSLMV
130 140 150 160 170 180
GGLTESFIMT QNWLEELVGR LRWGPAPLLT PRGIWEAEVT RAFGALVWIR GDQHAGDLLQ
190 200 210 220 230 240
LPPAVQELLL SLVRDAAGKE DIIEWLSRFG ISDSHSDPEV LICPPQQQKE APAMVSVGES
250 260 270 280 290 300
PGPFVDMGTL QNRGPENSKR LSSLGATGSL ITAQSTPQEA ANQLVRVGSN NQDGMDSAQE
310 320 330 340 350 360
EGTVQATSSQ DSTNHTQALL KQRQVQKIED KLLFQPPVSA LGVCPPWKAW TPGPAFGPLW
370 380 390 400 410 420
PGAIAATFWR INELHSLHLA WLLSQACFNF PFWQRPLGPI QLKLPGQNPL PLNLEWKQKE
430 440 450 460 470 480
LAPLPSAESP AGRPDGGLGG EAALQNCPRP EISPKVTSLL VVPGSSDVKD KVSSDLPQIG
490 500 510 520 530 540
PPLTSTPQLQ AGGEPGDQGS MQLDFKGLEE GPAPVLPTGQ GKPVAQGGLT DQSVPGAQTV
550 560 570 580 590 600
PETLKVPMAA AVPKAENPSR TQVPSAAPKL PTSRMMLAVH TEPAAPEVPL APTKPTAQLM
610 620 630 640 650 660
ATAQKTVVNQ PVLVAQVEPT TPKTPQAQKM PVAKTSPAGP KTPKAQAGPA ATVSKAPAAS
670 680 690 700 710 720
KAPAAPKVPV TPRVSRAPKT PAAQKVPTDA GPTLDVARLL SEVQPTSRAS VSLLKGQGQA
730 740 750 760 770 780
GRQGPQSSGT LALSSKHQFQ MEGLLGAWEG APRQPPRHLQ ANSTVTSFQR YHEALNTPFE
790 800 810 820 830 840
LNLSGEPGNQ GLRRVVIDGS SVAMVHGLQH FFSCRGIAMA VQFFWNRGHR EVTVFVPTWQ
850 860 870 880 890 900
LKKNRRVRES HFLTKLHSLK MLSITPSQLE NGKKITTYDY RFMVKLAEET DGIIVTNEQI
910 920 930 940 950 960
HILMNSSKKL MVKDRLLPFT FAGNLFMVPD DPLGRDGPTL DEFLKKPNRL DTDIGNFLKV
970 980 990 1000 1010 1020
WKTLPPSSAS VTELSDDADS GPLESLPNME EVREEKEERQ DEEQRQGQGT QKAAEEDDLD
1030 1040 1050 1060 1070 1080
SSLASVFRVE CPSLSEEILR CLSLHDPPDG ALDIDLLPGA ASPYLGIPWD GKAPCQQVLA
1090 1100 1110 1120 1130 1140
HLAQLTIPSN FTALSFFMGF MDSHRDAIPD YEALVGPLHS LLKQKPDWQW DQEHEEAFLA
1150 1160 1170 1180 1190 1200
LKRALVSALC LMAPNSQLPF RLEVTVSHVA LTAILHQEHS GRKHPIAYTS KPLLPDEESQ
1210 1220 1230 1240 1250 1260
GPQSGGDSPY AVAWALKHFS RCIGDTPVVL DLSYASRTTA DPEVREGRRV SKAWLIRWSL
1270 1280 1290 1300 1310 1320
LVQDKGKRAL ELALLQGLLG ENRLLTPAAS MPRFFQVLPP FSDLSTFVCI HMSGYCFYRE
1330 1340 1350 1360 1370 1380
DEWCAGFGLY VLSPTSPPVS LSFSCSPYTP TYAHLAAVAC GLERFGQSPL PVVFLTHCNW
1390 1400 1410 1420 1430 1440
IFSLLWELLP LWRARGFLSS DGAPLPHPSL LSYIISLTSG LSSLPFIYRT SYRGSLFAVT
1450 1460 1470 1480 1490 1500
VDTLAKQGAQ GGGQWWSLPK DVPAPTVSPH AMGKRPNLLA LQLSDSTLAD IIARLQAGQK
1510 1520 1530 1540 1550 1560
LSGSSPFSSA FNSLSLDKES GLLMFKGDKK PRVWVVPTQL RRDLIFSVHD IPLGAHQRPE
1570 1580 1590 1600 1610 1620
ETYKKLRLLG WWPGMQEHVK DYCRSCLFCI PRNLIGSELK VIESPWPLRS TAPWSNLQIE
1630 1640 1650 1660 1670 1680
VVGPVTISEE GHKHVLIVAD PNTRWVEAFP LKPYTHTAVA QVLLQHVFAR WGVPVRLEAA
1690 1700 1710 1720 1730 1740
QGPQFARHVL VSCGLALGAQ VASLSRDLQF PCLTSSGAYW EFKRALKEFI FLHGKKWAAS
1750 1760 1770 1780 1790 1800
LPLLHLAFRA SSTDATPFKV LTGGESRLTE PLWWEMSSAN IEGLKMDVFL LQLVGELLEL
1810 1820 1830 1840 1850 1860
HWRVADKASE KAENRRFKRE SQEKEWNVGD QVLLLSLPRN GSSAKWVGPF YIGDRLSLSL
1870 1880 1890
YRIWGFPTPE KLGCIYPSSL MKAFAKSGTP LSFKVLEQ