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 Q66K14

Entry ID Method Resolution Chain Position Source
AF-Q66K14-F1 Predicted AlphaFoldDB

1279 variants for Q66K14

Variant ID(s) Position Change Description Diseaes Association Provenance
rs945332637
CA133139462
2 W>* No ClinGen
TOPMed
rs1161763352
CA362472219
2 W>R No ClinGen
gnomAD
rs1045069485 3 L>A No TOPMed
CA3602782
rs767091996
4 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs949459237 4 S>L No TOPMed
gnomAD
rs767091996
CA362472183
4 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs949459237 4 S>P No TOPMed
gnomAD
rs949459237 4 S>Q No TOPMed
gnomAD
CA362472180
rs767091996
4 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs1582112213 4 S>W No Ensembl
rs1225795991 5 P>D No TOPMed
CA362472160
rs1435487171
5 P>L No ClinGen
TOPMed
gnomAD
CA3602781
rs759202339
6 E>D No ClinGen
ExAC
gnomAD
rs535289191 6 E>L No TOPMed
gnomAD
CA362472155
rs1485126774
6 E>Q No ClinGen
TOPMed
rs1275144941 9 L>Y No TOPMed
rs913834329 10 V>G No TOPMed
CA362472082
rs1210300879
12 N>S No ClinGen
gnomAD
rs1057363996 12 N>Y No TOPMed
rs773804030
CA362472064
13 A>G No ClinGen
ExAC
gnomAD
rs1582112180 13 A>G No Ensembl
rs1329597037
CA362472072
13 A>P No ClinGen
gnomAD
rs1329597037
CA362472070
13 A>S No ClinGen
gnomAD
rs1481550290 13 A>T No TOPMed
rs1329597037
CA362472074
13 A>T No ClinGen
gnomAD
rs773804030
CA3602780
13 A>V No ClinGen
ExAC
gnomAD
rs1201231221 14 L>R No TOPMed
rs1429776017 15 W>Y No TOPMed
rs1332800222
CA362472031
16 V>M No ClinGen
TOPMed
gnomAD
rs1302017369
CA362472015
17 T>M No ClinGen
gnomAD
CA362471982
rs1386651777
19 R>G No ClinGen
TOPMed
gnomAD
rs185388017 19 R>L No 1000Genomes
TOPMed
gnomAD
rs562905893
CA3602778
19 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs185388017 19 R>R No 1000Genomes
TOPMed
gnomAD
CA362471980
rs1386651777
19 R>W No ClinGen
TOPMed
gnomAD
CA362471967
rs1458030223
20 A>S No ClinGen
gnomAD
rs1368254131 20 A>S No TOPMed
rs1406987519 23 F>A No gnomAD
rs868681970 23 F>S No Ensembl
rs1340147568 25 V>L No TOPMed
rs1554098577
CA3602775
25 V>L No ClinGen
Ensembl
rs1448365785
CA362471887
26 L>P No ClinGen
gnomAD
rs922454143 27 Q>A No TOPMed
rs1481968142 27 Q>M No Ensembl
CA133139432
rs958170740
27 Q>R No ClinGen
TOPMed
gnomAD
rs533121100 28 R>F No TOPMed
gnomAD
rs1245751106
CA362471849
29 R>H No ClinGen
gnomAD
rs1223529133 30 R>R No TOPMed
rs979939453
CA133139416
30 R>W No ClinGen
TOPMed
CA362471831
rs1465108727
31 G>D No ClinGen
gnomAD
rs969944973
CA133139412
32 H>D No ClinGen
TOPMed
rs964829053 33 G>A No Ensembl
rs1198545370
CA362471815
33 G>D No ClinGen
gnomAD
rs561487947 33 G>N No 1000Genomes
rs1383293224 35 G>S No gnomAD
rs1017670040 37 G>H No TOPMed
gnomAD
rs570714099 39 T>F No TOPMed
gnomAD
CA362471737
rs1445633380
39 T>M No ClinGen
TOPMed
rs1451062070 40 G>S No TOPMed
gnomAD
rs950385496
CA133138144
42 L>P No ClinGen
TOPMed
CA362470997
rs1355848305
42 L>V No gnomAD
ClinGen
rs754146906
CA362470983
CA3602765
43 V>L No ExAC
TOPMed
gnomAD
ClinGen
CA3602764
rs754146906
43 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA362470943
rs1302162418
44 G>V No ClinGen
TOPMed
rs973131872
CA133138133
45 T>P No TOPMed
gnomAD
ClinGen
CA3602762
rs759149480
46 L>V No ExAC
gnomAD
ClinGen
rs147600483
CA3602760
48 V>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA362470876
CA362470866
rs1309261538
49 V>L No ClinGen
gnomAD
CA133138121
rs1008610892
51 D>G No Ensembl
ClinGen
rs890054112
CA133138102
53 S>N No gnomAD
ClinGen
rs1007768626
CA133138096
54 A>T No TOPMed
gnomAD
ClinGen
rs769557594
CA3602757
55 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs761861438
CA3602756
55 R>H No ExAC
TOPMed
gnomAD
ClinGen
CA362470737
rs370195814
CA133138088
56 V>L No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs370195814
CA3602754
56 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 58 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA133138078
rs1037221492
60 R>C No TOPMed
gnomAD
ClinGen
CA133138076
rs1037221492
60 R>G No ClinGen
TOPMed
gnomAD
rs542672577
CA3602751
63 H>R No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA362470620
rs1287902140
63 H>Y No gnomAD
ClinGen
CA362470570
rs1288071167
66 Q>* No gnomAD
ClinGen
rs1324667077
CA362470562
66 Q>R No ClinGen
TOPMed
CA362470548
rs1226967048
67 D>G No gnomAD
ClinGen
rs868759825
CA133138066
67 D>H No ClinGen
Ensembl
rs868759825
CA133138064
67 D>Y No ClinGen
Ensembl
CA362470530
rs1230218701
70 V>I No TOPMed
ClinGen
CA362470529
rs1230218701
70 V>L No TOPMed
ClinGen
rs1298752711
CA362470515
71 Y>C No TOPMed
ClinGen
CA3602749
rs779066478
73 T>R No ClinGen
ExAC
gnomAD
rs1309174582
CA362470473
74 V>M No TOPMed
gnomAD
ClinGen
rs557171304
CA133138056
75 A>V No ClinGen
1000Genomes
CA362469004
rs1183120015
77 G>D No ClinGen
TOPMed
CA362470432
rs1348777035
77 G>S No ClinGen
gnomAD
rs756617664
CA3602728
78 S>Y No ClinGen
ExAC
gnomAD
rs1261650964
CA362468940
79 S>F No ClinGen
gnomAD
rs149901807
CA3602727
80 R>C No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3602726
rs201373676
80 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 80 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA133134676
rs932650742
82 E>K No Ensembl
ClinGen
TCGA novel 82 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3602724
rs750058559
83 I>F No ExAC
gnomAD
ClinGen
TCGA novel 85 K>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362468726
rs1296310313
87 W>* No gnomAD
ClinGen
rs1432419733
CA362468712
88 E>Q No gnomAD
ClinGen
CA362468670
rs1366953071
89 W>* No TOPMed
gnomAD
ClinGen
rs199873978
CA133134655
91 E>* No ClinGen
1000Genomes
CA362468647
rs199873978
91 E>K No 1000Genomes
ClinGen
rs753469622
CA362468572
95 L>F No ExAC
gnomAD
ClinGen
rs753469622
CA3602721
95 L>I No ClinGen
ExAC
gnomAD
CA3602719
rs760706081
97 T>A No ClinGen
ExAC
gnomAD
rs775102059
CA3602718
97 T>I No ClinGen
ExAC
gnomAD
rs1451519253
CA362468518
98 L>P No ClinGen
TOPMed
gnomAD
rs1451519253
CA362468517
98 L>R No TOPMed
gnomAD
ClinGen
CA362468483
rs1392655694
100 I>M No TOPMed
ClinGen
rs759291783
CA3602716
100 I>V No ExAC
TOPMed
gnomAD
ClinGen
CA3602714
rs375838263
102 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs139914217
CA3602713
104 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA362468345
rs1225572707
108 T>P No gnomAD
ClinGen
CA362468329
rs1308834946
109 T>P No gnomAD
ClinGen
rs748719652
CA3602709
111 V>A No ExAC
gnomAD
ClinGen
rs150660671
CA3602710
COSM3012066
COSM3012067
111 V>I upper_aerodigestive_tract [Cosmic] No ESP
ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
rs781586750 116 H>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs781586750
CA362468203
116 H>Q No ClinGen
ExAC
gnomAD
CA362467198
rs1208753288
117 G>* No TOPMed
gnomAD
ClinGen
TCGA novel 117 G>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1208753288
CA362467203
117 G>R No ClinGen
TOPMed
gnomAD
rs377448990
CA3602687
118 I>V No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1214020653
CA362467140
120 A>T No TOPMed
gnomAD
ClinGen
rs780583574
CA3602685
122 E>D No ExAC
gnomAD
ClinGen
rs923600330
CA133131593
122 E>G No ClinGen
TOPMed
rs1241073134
CA362467054
123 N>K No TOPMed
gnomAD
ClinGen
rs1300633646
CA362466994
126 L>P No TOPMed
gnomAD
ClinGen
rs1336322165
CA362467004
126 L>V No ClinGen
gnomAD
rs549230293
CA3602683
129 Q>* No ClinGen
1000Genomes
ExAC
rs777610547
CA362466930
129 Q>L No ExAC
gnomAD
ClinGen
CA3602682
rs777610547
129 Q>R No ClinGen
ExAC
gnomAD
rs755630364
CA3602681
130 G>* No ClinGen
ExAC
gnomAD
rs1161875010
CA362466882
132 E>D No gnomAD
ClinGen
CA3602678
rs373358242
COSM304392
132 E>K large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs373358242
CA3602679
132 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751306031
CA3602677
133 D>E No ExAC
TOPMed
gnomAD
ClinGen
rs1454724370
CA362466872
133 D>H No gnomAD
ClinGen
CA3602676
rs766190116
134 P>A No ExAC
gnomAD
ClinGen
rs898192019
CA133131542
135 G>R No ClinGen
gnomAD
CA362466734
rs1464200653
138 K>R No gnomAD
ClinGen
CA362466704
rs1351236637
140 A>G No ClinGen
gnomAD
rs991015579
CA133131541
141 E>Q No ClinGen
TOPMed
rs750619099
CA3602674
143 K>N No ExAC
gnomAD
ClinGen
CA3602673
rs765498156
145 R>Q No ExAC
TOPMed
gnomAD
ClinGen
rs1421550258
CA362466543
145 R>W No TOPMed
gnomAD
ClinGen
CA362466480
rs369943097
147 Q>H No ClinGen
ESP
TOPMed
gnomAD
CA3602672
rs376199624
149 G>R No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1332136276
CA362466377
150 M>I No ClinGen
TOPMed
CA362466409
rs1363325164
150 M>V No gnomAD
ClinGen
rs1402039587
CA362466157
158 N>K No ClinGen
gnomAD
CA362466135
rs1582100190
159 Y>S No ClinGen
Ensembl
CA362466121
rs1582100186
160 Y>S No Ensembl
ClinGen
rs1582100179
CA362466098
161 S>P No ClinGen
Ensembl
CA3602670
rs562121131
161 S>Y No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs761110694
CA3602669
163 S>G No ClinGen
ExAC
CA362465988
rs1304555679
165 W>G No TOPMed
ClinGen
rs1037167441
CA133131499
168 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs775959835
CA3602668
168 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA3602666
rs141539662
169 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3602665
rs141539662
169 V>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs949571771
CA133131483
170 P>L No gnomAD
ClinGen
CA133131481
rs369089602
171 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3602662
rs369089602
171 R>Q No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs190115688
CA3602663
171 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA362465799
rs1582100094
172 Q>R No Ensembl
ClinGen
rs751465557
CA3602660
173 G>D No ClinGen
ExAC
gnomAD
rs1582100073
CA362465723
176 Y>S No ClinGen
Ensembl
rs1281078026
CA362465714
177 L>V No gnomAD
ClinGen
rs750280553
CA3602657
178 T>M No ClinGen
ExAC
gnomAD
rs761958723
CA3602655
179 V>I No ClinGen
ExAC
gnomAD
COSM4141735
COSM4141734
rs1427736315
CA362465675
180 N>S ovary [Cosmic] No TOPMed
ClinGen
cosmic curated
CA362465643
rs1228516232
182 L>M No ClinGen
gnomAD
rs753909737
CA3602654
183 C>F No ClinGen
ExAC
gnomAD
rs753909737
CA362465633
183 C>Y No ExAC
gnomAD
ClinGen
rs1582100031
CA362465620
184 F>I No ClinGen
Ensembl
CA133131425
rs933889650
186 S>F No TOPMed
ClinGen
rs776119345
CA3602651
186 S>P No ExAC
TOPMed
gnomAD
ClinGen
rs759975918
CA3602649
188 L>P No ClinGen
ExAC
gnomAD
CA3602647
rs769437938
190 G>R No ExAC
gnomAD
ClinGen
CA362465436
rs1582099970
191 K>E No ClinGen
Ensembl
rs1197237325
CA362464885
194 S>N No gnomAD
ClinGen
CA3602616
rs149584609
195 L>H No ClinGen
ESP
ExAC
gnomAD
rs752767154
CA3602615
196 V>M No ExAC
gnomAD
ClinGen
CA362464855
rs1214115675
197 V>G No ClinGen
gnomAD
CA133130645
rs889255198
197 V>M No ClinGen
TOPMed
gnomAD
CA362464848
rs1484896459
198 Q>P No ClinGen
TOPMed
rs1244039638
CA362464822
200 V>E No TOPMed
ClinGen
CA3602612
rs150353898
200 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1219226843
CA362464808
201 D>V No ClinGen
gnomAD
rs1444213206
CA362464817
201 D>Y No ClinGen
TOPMed
CA3602610
rs763218146
202 I>T No ExAC
gnomAD
ClinGen
CA3602611
rs766966276
202 I>V No ClinGen
ExAC
gnomAD
CA3602609
rs763676590
203 T>M No ClinGen
ExAC
gnomAD
rs763676590
CA3602608
203 T>R No ClinGen
ExAC
gnomAD
COSM129621
rs368661137
CA3602606
204 R>C upper_aerodigestive_tract [Cosmic] No ESP
ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
rs750207167
CA3602605
204 R>H No ExAC
TOPMed
gnomAD
ClinGen
rs543531969
CA3602602
206 E>G No 1000Genomes
ExAC
gnomAD
ClinGen
COSM1436602
COSM1436601
rs1344091863
CA362464710
209 A>V large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs748972028
CA3602600
211 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs75428178
CA3602598
212 L>F No ClinGen
1000Genomes
ExAC
gnomAD
rs755094235
CA3602595
215 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
CA362464629
rs1582098623
216 S>G No ClinGen
Ensembl
CA362464605
rs1243117554
217 I>F No gnomAD
ClinGen
CA3602594
rs751724134
217 I>T No ExAC
gnomAD
ClinGen
CA362464608
rs1243117554
217 I>V No ClinGen
gnomAD
CA3602593
rs780355087
218 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA362464591
rs780355087
218 R>G No ExAC
TOPMed
gnomAD
ClinGen
rs895726397
CA362464586
218 R>H No ClinGen
gnomAD
CA133130580
rs895726397
218 R>P No ClinGen
gnomAD
rs780355087
CA362464592
218 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs375480608
CA3602592
219 V>A No ESP
ExAC
gnomAD
ClinGen
rs750701485
CA3602591
220 D>G No ClinGen
ExAC
gnomAD
rs765624717
CA3602590
221 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA362464545
rs1375913213
221 T>P No ClinGen
TOPMed
rs147850739
CA3602589
222 R>C No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs752328852
CA3602588
222 R>H No ExAC
TOPMed
gnomAD
ClinGen
CA3602587
rs146145249
223 D>N No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3602586
rs372431621
224 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1314763531
CA362464467
225 E>D No ClinGen
gnomAD
rs925625024
CA133130552
225 E>K No gnomAD
ClinGen
CA362464448
rs1435421915
226 L>H No ClinGen
gnomAD
CA3602584
rs139809387
229 S>C No ClinGen
1000Genomes
ESP
TOPMed
gnomAD
CA362464379
rs1168582106
230 M>T No ClinGen
gnomAD
CA3602583
rs145950699
230 M>V No ClinGen
1000Genomes
ExAC
gnomAD
CA362464335
rs1235535792
233 N>S No ClinGen
TOPMed
CA3602582
rs770717841
234 I>V No ExAC
TOPMed
gnomAD
ClinGen
CA362464311
rs1181672064
235 G>S No TOPMed
gnomAD
ClinGen
COSM1436598
COSM1436597
rs769688485
CA3602579
236 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA362464267
rs1212325066
239 K>E No gnomAD
ClinGen
CA3602578
rs534548411
240 L>F No ClinGen
1000Genomes
ExAC
gnomAD
VAR_032440
rs1057078
240 L>P No UniProt
dbSNP
rs1201964963
CA362464233
241 M>I No ClinGen
gnomAD
rs1355916000
CA362464240
241 M>T No TOPMed
ClinGen
CA362464245
rs1173440091
241 M>V No TOPMed
ClinGen
CA362464194
rs1301365282
244 L>S No ClinGen
Ensembl
CA3602576
rs199690704
246 N>S No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3602575
rs187578890
247 L>V No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA3602574
rs376113704
249 M>T No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs374481597
CA3602572
250 R>Q No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3602573
rs758788900
250 R>W No ExAC
TOPMed
gnomAD
ClinGen
rs754269563
CA362464006
255 S>R No ExAC
TOPMed
gnomAD
ClinGen
rs767089909
CA3602568
256 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA133130505
rs1015981248
258 F>S No TOPMed
ClinGen
CA362463945
rs1472572665
260 E>K No ClinGen
TOPMed
gnomAD
CA362463883
rs1174991924
262 K>E No ClinGen
gnomAD
CA3602564
rs148855461
263 A>D No ESP
ExAC
gnomAD
ClinGen
CA362463861
rs1251535221
263 A>T No ClinGen
gnomAD
TCGA novel 263 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA133130490
rs763579619
264 L>R No Ensembl
ClinGen
rs1233794183
CA362463813
265 P>R No ClinGen
gnomAD
CA362463820
rs1274866657
265 P>S No TOPMed
gnomAD
ClinGen
CA362463824
rs1274866657
265 P>T No TOPMed
gnomAD
ClinGen
CA362463796
rs1239966690
266 R>G No ClinGen
TOPMed
gnomAD
CA3602562
rs773269119
267 P>T No ClinGen
ExAC
TCGA novel 268 I>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3602561
rs376440134
269 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA362463738
rs1304901447
269 R>Q No ClinGen
TOPMed
gnomAD
CA3602560
rs376440134
269 R>W No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA362463731
rs1393232571
270 P>S No gnomAD
ClinGen
CA3602559
rs533066666
272 R>G No 1000Genomes
ExAC
gnomAD
ClinGen
rs1582098298
CA362463674
273 N>S No ClinGen
Ensembl
rs768708677
CA3602558
274 I>V No ExAC
gnomAD
ClinGen
rs1029616307
CA133130456
275 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No TOPMed
ClinGen
NCI-TCGA
CA3602557
rs747283334
275 S>P No ExAC
gnomAD
ClinGen
rs1166139723
CA362463580
278 K>R No gnomAD
ClinGen
CA3602556
rs775617814
279 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
rs762458678
CA3602555
279 R>Q No ExAC
TOPMed
gnomAD
ClinGen
rs544600861
CA3602526
280 D>E No 1000Genomes
ExAC
gnomAD
ClinGen
CA3602525
rs764869231
281 L>M No ExAC
ClinGen
rs1162098123
CA362462531
281 L>P No ClinGen
TOPMed
CA3602522
rs200571563
282 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs763999012
CA3602520
283 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1066731
COSM1595281
CA3602518
rs145495991
284 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA133129644
rs1018886665
285 A>G No TOPMed
ClinGen
rs1376819983
CA362462437
285 A>T No gnomAD
ClinGen
TCGA novel 288 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362462264
rs1322825223
289 C>R Variant assessed as Somatic; impact. [NCI-TCGA] No TOPMed
ClinGen
NCI-TCGA
rs1244205733
CA362462249
290 Y>H No ClinGen
TOPMed
rs1582096936
CA362462243
290 Y>S No ClinGen
Ensembl
CA3602516
rs371645584
291 R>* No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs371645584
CA362462223
291 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1371101669
CA362462214
291 R>P No ClinGen
TOPMed
gnomAD
rs1371101669
CA362462207
291 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No TOPMed
gnomAD
ClinGen
NCI-TCGA
rs759776843
CA362462143
293 T>K No ClinGen
ExAC
gnomAD
CA3602515
rs759776843
293 T>M No ExAC
gnomAD
ClinGen
CA3602514
rs777601642
294 F>C No ClinGen
ExAC
gnomAD
rs1256719856
CA362462105
294 F>L No ClinGen
gnomAD
rs201568253
CA3602513
295 R>Q No ExAC
TOPMed
gnomAD
ClinGen
CA362462099
COSM1154441
rs1208719642
COSM1066730
295 R>W Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No TOPMed
gnomAD
ClinGen
cosmic curated
NCI-TCGA
rs1337731564
CA362462041
297 P>A No ClinGen
TOPMed
gnomAD
CA362462035
rs1337731564
297 P>S No ClinGen
TOPMed
gnomAD
rs1337731564
CA362462044
297 P>T No ClinGen
TOPMed
gnomAD
CA133129591
rs1035864791
298 R>G No TOPMed
gnomAD
ClinGen
rs770206639
CA3602510
299 D>Y No ExAC
gnomAD
ClinGen
rs369773708
CA3602508
301 R>Q No ClinGen
ESP
ExAC
gnomAD
CA3602509
rs748486833
301 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1582096833
CA362461894
302 L>R No Ensembl
ClinGen
CA362461886
rs1582096826
303 D>A No ClinGen
Ensembl
CA3602507
rs557504816
303 D>E No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA362461855
rs1334293972
304 G>S No TOPMed
gnomAD
ClinGen
rs1414942271
CA362461795
306 T>A No TOPMed
ClinGen
CA3602505
rs778754397
306 T>R No ClinGen
ExAC
gnomAD
CA362461746
rs1465939239
307 S>G No gnomAD
ClinGen
CA362461654
rs1476169666
310 L>M No gnomAD
ClinGen
CA362461630
rs1230890113
310 L>P No gnomAD
ClinGen
rs1476169666
CA362461639
310 L>V No gnomAD
ClinGen
rs1238084931
CA362461622
311 W>* No TOPMed
gnomAD
ClinGen
rs377259389
CA3602501
312 T>A No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs756019909
CA3602500
312 T>M No ExAC
TOPMed
gnomAD
ClinGen
rs1196671733
CA362461554
313 P>L No ClinGen
gnomAD
rs1271722448
CA362461501
315 N>S No gnomAD
ClinGen
rs1582096711
CA362461441
317 L>P No ClinGen
Ensembl
rs1582096711
CA362461439
317 L>R No Ensembl
ClinGen
CA362461343
rs1284212369
320 P>A No gnomAD
ClinGen
rs762953221
CA3602494
321 G>D No ExAC
gnomAD
ClinGen
rs772091781
CA133129480
322 Q>* No ClinGen
Ensembl
TCGA novel 323 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362461210
rs1333545613
323 M>I No gnomAD
ClinGen
rs748053918
CA133129479
324 F>S No Ensembl
ClinGen
CA3602493
rs773179113
325 I>M No ClinGen
ExAC
gnomAD
rs770282918
CA3602492
327 N>S No ExAC
TOPMed
gnomAD
ClinGen
rs1229071846
CA362461041
328 N>K No ClinGen
TOPMed
CA3602490
rs777232858
333 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3602487
rs200225704
334 S>N No ClinGen
ExAC
gnomAD
rs1468664961
CA362460887
335 K>N No ClinGen
TOPMed
gnomAD
rs1234734872
CA362460874
336 E>V No gnomAD
ClinGen
CA3602483
rs777170652
339 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs777170652
CA362460795
339 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs756039752
CA3602482
339 A>V No ClinGen
ExAC
gnomAD
CA3602480
rs146407889
342 L>F No ClinGen
ESP
ExAC
TOPMed
CA362460720
rs1410817599
342 L>R No TOPMed
ClinGen
rs754760983
CA3602479
343 I>V No ClinGen
ExAC
gnomAD
CA362460656
rs766529720
345 P>L No ClinGen
ExAC
gnomAD
rs766529720
CA3602477
345 P>R No ExAC
gnomAD
ClinGen
rs751359006
CA3602478
345 P>S No ExAC
TOPMed
gnomAD
ClinGen
CA362460545
rs1582096555
347 R>K No ClinGen
Ensembl
TCGA novel 348 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3602460
rs779851044
350 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs114211551
CA3602459
350 T>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs750585823
CA3602458
351 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA3602455
rs753974407
352 V>A No ClinGen
ExAC
gnomAD
rs757282947
CA3602456
352 V>I No ExAC
ClinGen
rs369943369
CA3602453
353 E>K No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA362459223
rs1185165607
355 A>P No gnomAD
ClinGen
CA133127860
rs958048859
357 S>T No ClinGen
TOPMed
CA362459166
rs1476641723
358 S>F No gnomAD
ClinGen
rs1361619063
CA362459163
359 S>G No ClinGen
TOPMed
rs1264538981
CA362459161
359 S>N No ClinGen
gnomAD
rs772728242
CA3602449
360 V>L No ExAC
gnomAD
ClinGen
CA3602450
rs772728242
360 V>M No ExAC
gnomAD
ClinGen
CA3602448
rs769490793
362 P>S No ClinGen
ExAC
gnomAD
rs113360976
CA3602447
363 S>R No ClinGen
ExAC
gnomAD
CA362459030
rs1423978126
365 L>P No ClinGen
TOPMed
CA362459044
rs1402172065
365 L>V No TOPMed
gnomAD
ClinGen
rs1212606422
CA362459005
367 I>V No ClinGen
TOPMed
gnomAD
CA3602443
rs746913600
368 S>G No ExAC
gnomAD
ClinGen
CA3602442
rs140042300
370 K>E No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3602441
rs771748035
370 K>R No ExAC
gnomAD
ClinGen
rs1354177082
CA362458873
373 M>V No gnomAD
ClinGen
TCGA novel 374 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1329898014
CA362458799
378 A>T No TOPMed
ClinGen
CA3602438
rs150609513
379 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA133127824
rs868561984
382 D>N No ClinGen
Ensembl
rs753924733
CA3602437
383 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA3602436
rs568744817
383 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA3602435
rs568744817
383 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 383 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3602434
rs753234968
385 F>L No ClinGen
ExAC
gnomAD
CA133127795
rs1046634890
391 S>F No TOPMed
ClinGen
CA362458478
rs1248285432
398 P>A No ClinGen
TOPMed
rs753131211
CA133127785
401 Q>* No Ensembl
ClinGen
CA362458336
rs1402944667
403 G>D No ClinGen
Ensembl
rs1232560961
CA362458330
404 S>G No gnomAD
ClinGen
rs1314869303
CA362458267
405 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No TOPMed
gnomAD
ClinGen
NCI-TCGA
rs141821788
CA3602428
405 I>V No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3602426
rs768128568
406 G>R No ExAC
gnomAD
ClinGen
CA3602425
rs760232760
408 R>G No ExAC
TOPMed
gnomAD
ClinGen
CA133127760
rs1038311823
412 V>D No Ensembl
ClinGen
CA362458120
rs1424867157
412 V>F No TOPMed
ClinGen
rs775399946
CA3602424
413 V>M No ExAC
TOPMed
gnomAD
ClinGen
CA3602423
rs772053256
415 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1406037270
CA362458027
416 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA3602420
rs778794716
418 E>K No ExAC
ClinGen
CA362455736
rs1485514996
420 S>F No ClinGen
gnomAD
CA133124932
rs987223341
424 Q>H No ClinGen
TOPMed
CA133124930
rs998770595
425 E>K No ClinGen
Ensembl
rs770831310
CA3602400
427 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA3602398
rs773567433
429 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs1446325598
CA362455676
430 P>A No ClinGen
gnomAD
rs1333173737
CA362455671
431 A>T No TOPMed
gnomAD
ClinGen
CA133124916
rs969016460
433 P>L No ClinGen
TOPMed
TCGA novel 433 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755048722
CA3602394
435 S>F No ExAC
gnomAD
ClinGen
CA362455640
rs747528277
436 P>A No ClinGen
ExAC
gnomAD
CA3602393
rs747528277
436 P>S No ClinGen
ExAC
gnomAD
CA3602392
rs780482247
437 L>V No ClinGen
ExAC
gnomAD
CA362455631
rs1398720872
438 S>R No ClinGen
gnomAD
CA362455618
rs1172594007
439 S>I No gnomAD
ClinGen
CA3602391
rs760439963
440 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA3602390
rs373758205
440 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs370360941
CA3602388
442 S>N No ClinGen
ESP
ExAC
gnomAD
rs777128426 443 F>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767023275
CA3602386
443 F>L No ExAC
gnomAD
ClinGen
rs759021604
CA3602385
445 A>P No ExAC
gnomAD
ClinGen
rs759021604
CA362455581
445 A>S No ExAC
gnomAD
ClinGen
rs759021604
CA133124900
445 A>T No ExAC
gnomAD
ClinGen
CA3602384
rs774335841
445 A>V No ClinGen
ExAC
TOPMed
CA362455577
rs1208943345
446 Q>E No ClinGen
TOPMed
gnomAD
rs1561639637
CA362455569
447 E>Q No Ensembl
ClinGen
CA362454943
rs762772283
448 A>E No ClinGen
ExAC
gnomAD
rs762772283
CA3602382
448 A>V No ExAC
gnomAD
ClinGen
CA362454889
rs748366380
450 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs748366380
CA3602379
450 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA3602376
rs747124381
451 A>S No ExAC
TOPMed
gnomAD
ClinGen
rs747124381
CA3602377
451 A>T No ExAC
TOPMed
gnomAD
ClinGen
rs1311769479
CA362454782
455 L>P No ClinGen
gnomAD
rs746183806
CA3602373
458 L>R No ExAC
gnomAD
ClinGen
rs1403908275
CA362454758
458 L>V No ClinGen
gnomAD
rs1421291887
CA362454739
459 F>C No gnomAD
ClinGen
CA133124875
rs778254794
459 F>L No ClinGen
TOPMed
rs1035689173
CA133124872
460 Q>H No ClinGen
TOPMed
rs146223425
CA3602370
463 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757659697
CA3602371
463 S>P No ClinGen
ExAC
gnomAD
CA362454629
rs142247693
464 P>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs142247693
CA3602367
464 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA133124835
rs1045686750
465 M>I No Ensembl
ClinGen
CA133124838
rs928916579
465 M>T No Ensembl
ClinGen
CA133124839
rs940265436
465 M>V No ClinGen
TOPMed
gnomAD
rs766368472
CA3602366
467 D>Y No ClinGen
ExAC
gnomAD
CA3602365
rs763013285
468 L>V No ExAC
gnomAD
ClinGen
rs1481579922
CA362454534
469 G>E No TOPMed
ClinGen
rs773318521
CA3602364
470 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA3602362
rs761570512
472 G>A No ExAC
gnomAD
ClinGen
CA3602363
CA362454470
rs765098338
472 G>R No ExAC
gnomAD
ClinGen
CA362454468
rs765098338
472 G>W No ClinGen
ExAC
gnomAD
rs779906559
CA362481607
473 A>G No ClinGen
ExAC
gnomAD
rs1452730162
CA362481611
473 A>T No ClinGen
gnomAD
rs779906559
CA3602331
473 A>V No ExAC
gnomAD
ClinGen
CA133135440
rs986009839
474 K>R No TOPMed
gnomAD
ClinGen
rs757977063
CA3602330
476 K>R No ExAC
gnomAD
ClinGen
rs920541798
CA133135415
479 E>G No ClinGen
gnomAD
CA133135425
rs931874026
479 E>K No gnomAD
ClinGen
TCGA novel 481 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 483 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1438472828
CA362481506
487 F>L No ClinGen
gnomAD
rs375542132
CA3602325
488 E>K No ESP
ExAC
ClinGen
CA133135374
rs760568290
490 G>R No ExAC
gnomAD
ClinGen
CA3602323
rs760568290
490 G>W No ClinGen
ExAC
gnomAD
CA362481478
rs1362607242
491 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA3602322
rs574734327
491 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA362481473
rs1423459653
492 G>D No ClinGen
gnomAD
rs1024882192
CA133135333
492 G>R No gnomAD
ClinGen
CA362481475
rs1024882192
492 G>S No gnomAD
ClinGen
rs138071086
CA3602320
493 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ESP
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA362481444
rs1487005269
496 Y>C No TOPMed
gnomAD
ClinGen
CA362481443
rs1487005269
496 Y>F No TOPMed
gnomAD
ClinGen
rs1192211010
CA362481447
496 Y>H No gnomAD
ClinGen
rs763335279
CA3602317
497 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs779931826
CA3602316
497 R>H No ExAC
TOPMed
gnomAD
ClinGen
CA362481427
rs1328986577
499 A>G No ClinGen
TOPMed
CA133135293
rs902887842
499 A>T No TOPMed
gnomAD
ClinGen
COSM1595283
rs748586469
CA133135285
COSM1066728
501 T>M endometrium Variant assessed as Somatic; 5.997e-05 impact. [Cosmic, NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
NCI-TCGA
rs748586469
CA3602314
501 T>R No ExAC
TOPMed
gnomAD
ClinGen
rs562935868
CA3602312
502 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA133135282
rs1033272011
502 R>W No Ensembl
ClinGen
rs367934536
CA3602311
503 A>E No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs374982572
CA3602309
505 V>I No ESP
ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 512 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777824774
CA362481339
514 R>P No ExAC
gnomAD
ClinGen
rs777824774
CA3602307
514 R>Q No ClinGen
ExAC
gnomAD
CA362481340
rs1419302814
514 R>W No ClinGen
gnomAD
rs150301970
CA3602305
515 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1264657230
CA362481337
515 G>R No ClinGen
gnomAD
CA3602306
rs150301970
515 G>V No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs767672440
CA3602304
520 L>V No ClinGen
ExAC
gnomAD
CA133135221
rs760410623
522 S>C No Ensembl
ClinGen
rs1379294665
CA362481273
523 G>E No ClinGen
gnomAD
CA133135194
rs766343754
523 G>R No ExAC
TOPMed
gnomAD
ClinGen
CA3602301
rs766343754
523 G>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs758339475
CA133134799
524 A>S No ExAC
TOPMed
gnomAD
ClinGen
rs758339475
CA3602279
524 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs934089149
CA133134798
524 A>V No TOPMed
gnomAD
ClinGen
rs1487483011
CA362481264
525 W>L No gnomAD
ClinGen
rs750529569
CA3602278
525 W>R No ClinGen
ExAC
gnomAD
CA362481237
rs1222418949
CA362481238
528 M>I No gnomAD
ClinGen
CA362481244
rs1267230330
528 M>V No gnomAD
ClinGen
CA362481229
rs1213929367
530 T>A No ClinGen
TOPMed
gnomAD
CA362481221
rs1353150460
531 H>Y No ClinGen
gnomAD
rs765790598
CA3602277
532 P>T No ExAC
gnomAD
ClinGen
rs754434902
CA3602275
533 G>R No ExAC
TOPMed
gnomAD
ClinGen
CA362481193
rs1301041153
535 Y>C No gnomAD
ClinGen
CA362481192
rs1301041153
535 Y>F No gnomAD
ClinGen
rs1385552648
CA362481186
536 A>D No ClinGen
gnomAD
rs1370363266
CA362481174
538 L>V No TOPMed
gnomAD
ClinGen
CA362481148
rs1424746441
542 S>T No ClinGen
TOPMed
gnomAD
rs1285981127
CA362481139
543 T>I No TOPMed
ClinGen
CA3602272
rs773870849
544 G>R No ExAC
TOPMed
gnomAD
ClinGen
rs762884965
CA133134750
545 K>R No gnomAD
ClinGen
TCGA novel 546 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1184799147
CA362481103
549 A>T No ClinGen
TOPMed
CA362481087
rs1431311996
551 E>G No gnomAD
ClinGen
CA133134742
rs751632660
CA362481077
552 E>D No TOPMed
gnomAD
ClinGen
rs762316349
CA3602270
553 I>F No ClinGen
ExAC
gnomAD
CA362481070
rs1471886528
554 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA3602268
rs199992645
COSM211519
555 R>* haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs748049880
CA3602267
555 R>Q No ExAC
TOPMed
gnomAD
ClinGen
rs768433157
CA3602265
559 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
CA3602264
rs140686469
559 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs780080413
CA3602263
560 S>A No ExAC
gnomAD
ClinGen
CA362481021
rs1456878460
561 M>I No ClinGen
TOPMed
rs765403238
CA3602261
563 E>* No ExAC
TOPMed
gnomAD
ClinGen
rs765403238
CA3602260
563 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA362480926
rs754385724
569 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA362480924
rs1385241040
570 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No TOPMed
gnomAD
ClinGen
NCI-TCGA
CA362480867
rs1445191483
574 A>V No TOPMed
ClinGen
CA3602257
rs764765099
576 L>P No ClinGen
ExAC
rs1464350251
CA362480850
576 L>V No ClinGen
gnomAD
CA3602254
rs753121786
577 R>L No ExAC
gnomAD
ClinGen
rs753121786
CA133134697
577 R>Q No ClinGen
ExAC
gnomAD
rs760882969
CA3602255
577 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs765902376
CA3602253
578 R>Q No ExAC
TOPMed
gnomAD
ClinGen
CA362480834
rs1387964616
578 R>W No ClinGen
Ensembl
CA362480825
CA3602252
rs762699890
579 V>L No ClinGen
ExAC
gnomAD
CA362480802
rs1265821593
581 T>A No ClinGen
TOPMed
rs1488704937
CA362480793
582 A>P No ClinGen
gnomAD
rs1488704937
TCGA novel
CA362480794
582 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA133134686
rs1034043531
583 Y>C No ClinGen
TOPMed
gnomAD
CA3602248
rs776480425
586 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA3602247
rs201947346
586 R>Q No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA3602246
rs746732052
588 P>R No ClinGen
ExAC
gnomAD
rs1582085012
CA362480708
589 T>P No ClinGen
Ensembl
rs779929793
CA3602245
589 T>S No ExAC
gnomAD
ClinGen
rs1219922403
CA362480692
590 I>V No gnomAD
ClinGen
rs779336983
CA3602242
591 G>D No ClinGen
ExAC
gnomAD
rs746078692
CA3602243
591 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3602241
rs757410409
592 Y>C No ClinGen
ExAC
gnomAD
rs1582083001
CA362480584
595 A>V No Ensembl
ClinGen
CA362480581
rs1178332277
596 M>V No gnomAD
ClinGen
CA3602220
rs778032943
597 N>D No ExAC
gnomAD
ClinGen
CA362480561
rs781613172
598 I>M No ExAC
gnomAD
ClinGen
CA3602218
rs374156288
598 I>S No ClinGen
ESP
ExAC
gnomAD
rs756192267
CA3602219
598 I>V No ExAC
TOPMed
gnomAD
ClinGen
rs751932035
CA3602216
599 V>L No ExAC
TOPMed
gnomAD
ClinGen
rs751932035
CA3602215
599 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA362480553
rs1349349457
600 T>N No TOPMed
ClinGen
COSM1228621
COSM1228620
rs1357917120
CA362480545
601 S>L pancreas large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
CA362480543
rs1239045613
602 V>L No ClinGen
gnomAD
CA362480535
rs1257877282
603 L>H No TOPMed
ClinGen
rs753527286
CA3602212
604 L>M No ClinGen
ExAC
gnomAD
TCGA novel 605 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362480524
rs1442754367
605 L>P No ClinGen
TOPMed
gnomAD
rs144368399
CA3602211
606 Y>C No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3602210
rs760160468
607 G>D No ExAC
gnomAD
ClinGen
CA362480473
rs1366314372
612 A>V No TOPMed
gnomAD
ClinGen
rs149984150
CA3602207
615 L>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA362480452
rs1376314375
615 L>P No ClinGen
TOPMed
CA362480449
rs771241906
616 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1353393258
CA362480445
617 V>M No ClinGen
TOPMed
rs748177148
CA3602201
621 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs781678500
CA3602200
622 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA3602198
rs747331720
622 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA3602199
rs747331720
622 R>L No ExAC
TOPMed
gnomAD
ClinGen
rs781678500
CA362480412
622 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1224118192
CA362480406
623 M>T No gnomAD
ClinGen
rs1287822517
CA362480409
623 M>V No ClinGen
gnomAD
CA3602194
rs777356719
626 D>N No ExAC
TOPMed
gnomAD
ClinGen
rs755584290
CA3602193
628 Y>C No ClinGen
ExAC
gnomAD
rs1277730262
CA362480367
629 N>D No ClinGen
TOPMed
rs752164460
CA362480356
630 T>I No ExAC
TOPMed
gnomAD
ClinGen
rs752164460
CA3602192
630 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA362480354
rs1319292430
631 R>K No ClinGen
gnomAD
rs530830753
CA3602190
631 R>S No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs767442186
CA3602191
631 R>W No ClinGen
ExAC
gnomAD
CA362480069
rs1453831870
634 G>E No ClinGen
gnomAD
CA3602187
rs766258527
634 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA3602166
rs761907545
635 A>S No ExAC
gnomAD
ClinGen
CA362480006
rs370774290
639 Q>* No ClinGen
ESP
ExAC
gnomAD
CA3602165
rs370774290
639 Q>E No ClinGen
ESP
ExAC
gnomAD
CA362480005
rs1467663310
639 Q>R No gnomAD
ClinGen
rs768709430
CA3602164
641 I>V No ClinGen
ExAC
gnomAD
CA3602162
COSM3827851
rs775909263
COSM3827852
643 E>K Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3602161
rs772582231
644 E>A No ClinGen
ExAC
gnomAD
rs1411158781
CA362479943
644 E>K No gnomAD
ClinGen
CA133132924
COSM1228623
rs911263386
COSM1228622
646 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No gnomAD
ClinGen
cosmic curated
NCI-TCGA
TCGA novel 647 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362479881
rs1582082063
648 D>A No ClinGen
Ensembl
rs1582082057
CA362479869
649 F>S No Ensembl
ClinGen
CA133132910
rs111539497
650 L>P No ClinGen
Ensembl
CA133132918
rs111539497
650 L>Q No Ensembl
ClinGen
CA362479847
rs1247176784
651 P>L No ClinGen
gnomAD
CA362479848
rs1247176784
651 P>R No ClinGen
gnomAD
CA362479843
rs1320066264
652 Q>* No ClinGen
gnomAD
rs143091649
CA3602156
652 Q>R No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3602154
rs746527913
654 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750412119
CA3602151
655 E>G No ClinGen
ExAC
gnomAD
CA3602152
rs758439331
655 E>K No ClinGen
ExAC
gnomAD
rs1026748922
CA133132879
656 K>R No ClinGen
TOPMed
gnomAD
CA362479779
rs1326029817
657 M>V No ClinGen
TOPMed
CA362479759
rs1379076350
658 Q>E No ClinGen
TOPMed
gnomAD
CA133132878
rs61748813
658 Q>H No ClinGen
Ensembl
rs764917081
CA3602150
659 D>E No ClinGen
ExAC
gnomAD
rs993972752
CA133132875
662 V>M No ClinGen
Ensembl
rs764304650
CA3602147
665 S>G No ExAC
gnomAD
ClinGen
TCGA novel 665 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1379384418
CA362479679
666 I>V No ClinGen
gnomAD
rs1156632138
CA362479664
667 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1251150769
CA362479662
668 L>M No gnomAD
ClinGen
CA3602145
rs775569768
674 L>F No ClinGen
ExAC
gnomAD
rs775569768
CA362479581
674 L>V No ExAC
gnomAD
ClinGen
CA133132868
rs905517567
COSM175893
676 L>F large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No Ensembl
ClinGen
cosmic curated
NCI-TCGA
rs1582081897
CA362479519
678 V>A No ClinGen
Ensembl
rs200585012
CA3602143
678 V>F No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs200585012
CA3602142
678 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs138854983
CA3602141
679 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA362479511
rs1284559760
679 M>V No ClinGen
TOPMed
CA362479492
rs1284248913
680 P>S No ClinGen
gnomAD
CA3602139
rs776359865
682 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA362479448
rs1475731037
683 S>G No TOPMed
ClinGen
CA3602138
rs188882073
684 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1304439065
CA362479423
685 V>M No gnomAD
ClinGen
CA133132818
rs868239609
686 V>F No Ensembl
ClinGen
rs147197593
CA3602134
687 I>V No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs756933859
CA3602132
688 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA133132802
rs764853309
689 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No TOPMed
gnomAD
ClinGen
NCI-TCGA
rs1315002570
CA362479381
689 D>V No TOPMed
ClinGen
rs1041693052
CA133132798
690 C>W No Ensembl
ClinGen
rs143590140
CA3602129
692 F>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 692 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3602128
rs201063581
693 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA362479329
rs1561636782
694 E>* No ClinGen
Ensembl
rs1561636779
CA362479327
694 E>V No Ensembl
ClinGen
CA362479308
rs1338587332
695 G>D No TOPMed
ClinGen
rs767565829
CA3602127
697 K>R No ClinGen
ExAC
gnomAD
rs759722234
CA3602126
701 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs759722234
CA362479240
701 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA3602125
rs774720027
702 V>E No ExAC
gnomAD
ClinGen
CA362479220
rs774720027
702 V>G No ExAC
gnomAD
ClinGen
CA3602122
rs10037618
706 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs10037618
CA3602121
VAR_032441
706 V>I No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA3602120
rs746636235
708 D>N No ExAC
gnomAD
ClinGen
CA3602118
rs375530962
709 A>T No ClinGen
ExAC
gnomAD
rs1339330999
CA362479157
710 N>D No gnomAD
ClinGen
TCGA novel 710 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA133132762
rs900536066
711 M>V No ClinGen
TOPMed
CA362479107
rs1240640495
713 Q>E No ClinGen
gnomAD
CA3602115
rs770922978
717 C>R No ExAC
gnomAD
ClinGen
CA3602114
rs749043245
718 S>N No ClinGen
ExAC
gnomAD
CA3602113
rs192488842
718 S>R No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs752905383
CA3602111
719 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA133132739
rs371596791
720 E>K No ClinGen
ESP
TOPMed
gnomAD
rs751677100
CA3602108
721 G>D No ClinGen
ExAC
gnomAD
rs763482090
CA3602106
722 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
rs1175774765
CA362478976
723 A>T No ClinGen
TOPMed
CA3602104
rs765680556
725 T>A No ClinGen
ExAC
gnomAD
TCGA novel 725 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3602101
rs371821470
726 M>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3602102
rs374644434
726 M>V No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs773944664
CA3602099
728 G>S No ExAC
gnomAD
ClinGen
CA362478764
rs1288621808
730 Y>* No ClinGen
TOPMed
CA133131894
rs564767635
730 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1582080028
CA362478774
730 Y>H No Ensembl
ClinGen
rs769845595
CA362478709
735 V>F No TOPMed
gnomAD
ClinGen
rs769845595
CA133131891
735 V>I No ClinGen
TOPMed
gnomAD
CA362478703
rs1219190573
736 N>H No TOPMed
ClinGen
rs1368358213
CA362478693
737 K>Q No ClinGen
Ensembl
CA3602080
rs762520199
740 V>I No ExAC
gnomAD
ClinGen
rs1235095561
CA362478660
741 S>F No gnomAD
ClinGen
rs1235095561
CA362478661
741 S>Y No ClinGen
gnomAD
rs1183211611
CA362478651
743 P>S No ClinGen
gnomAD
CA3602078
rs574944861
745 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA362478636
rs574944861
745 P>R No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs1264325944
CA362478638
745 P>S No ClinGen
TOPMed
CA362478629
rs1490739380
746 H>Q No ClinGen
gnomAD
CA3602076
rs747893935
748 R>C No ClinGen
ExAC
TOPMed
gnomAD
COSM1642703
COSM1642704
CA3602075
rs776452101
748 R>H stomach [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA362478620
rs747893935
748 R>S No ExAC
TOPMed
gnomAD
ClinGen
rs1383567819
CA362478615
749 A>D No ClinGen
TOPMed
CA3602074
rs768381580
749 A>T No ExAC
gnomAD
ClinGen
TCGA novel 749 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3602073
rs747238452
750 L>F No ClinGen
ExAC
gnomAD
CA362478600
rs1239713699
752 S>G No gnomAD
ClinGen
rs780205844
CA3602072
753 S>N No ExAC
TOPMed
gnomAD
ClinGen
rs758484327
CA362478580
754 S>R No ExAC
TOPMed
gnomAD
ClinGen
rs745957333
CA3602070
755 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1470124059
CA362478574
755 D>V No ClinGen
TOPMed
gnomAD
CA133131867
rs1030400143
757 P>A No ClinGen
TOPMed
rs1297887833
CA362478560
757 P>H No ClinGen
gnomAD
CA3602069
rs779513474
758 P>S No ExAC
gnomAD
ClinGen
CA362478540
rs1478005240
760 E>D No ClinGen
gnomAD
rs1159602879
CA362478546
760 E>K No ClinGen
TOPMed
gnomAD
rs1159602879
CA362478547
760 E>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No TOPMed
gnomAD
ClinGen
NCI-TCGA
rs754344153
CA3602067
762 D>N No ExAC
TOPMed
gnomAD
ClinGen
rs1021806150
CA133131835
763 I>V No TOPMed
ClinGen
rs751222674
CA3602064
764 F>S No ExAC
TOPMed
gnomAD
ClinGen
CA3602061
rs762395645
771 Y>F No ClinGen
ExAC
gnomAD
CA3602035
rs567057392
774 F>L No ClinGen
1000Genomes
ExAC
gnomAD
CA3602034
rs781430428
775 S>R No ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 776 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs148836971
CA3602033
776 S>R No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3602031
rs778326824
779 A>V No ClinGen
ExAC
gnomAD
rs748511066
CA3602029
780 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs781492208
CA3602028
786 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs200596277
CA133131695
786 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA362478138
rs1232316977
788 K>R No gnomAD
ClinGen
CA362478121
rs1202508485
789 Q>L No ClinGen
gnomAD
CA133131681
rs144708947
790 R>K No ESP
gnomAD
ClinGen
CA362478111
rs144708947
790 R>T No ESP
gnomAD
ClinGen
CA133131667
rs750014192
791 L>V No ExAC
gnomAD
ClinGen
rs372376890
CA3602025
792 K>E No ClinGen
ESP
ExAC
gnomAD
CA3602023
rs140882918
794 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756781087
CA3602024
794 I>S No ClinGen
ExAC
gnomAD
rs1376797211
CA362478007
797 L>V No ClinGen
gnomAD
CA362477968
rs1478355112
799 D>V No ClinGen
TOPMed
rs760489785
CA362477953
800 T>K No ExAC
TOPMed
gnomAD
ClinGen
rs760489785
CA3602021
800 T>M No ExAC
TOPMed
gnomAD
ClinGen
rs1423637544
CA362477882
805 V>A No gnomAD
ClinGen
rs942089263
CA133130856
807 R>G No ClinGen
Ensembl
CA3601991
rs145113784
807 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1582078251
CA362477683
808 A>V No ClinGen
Ensembl
rs777112854
CA3601990
810 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs769202345
CA3601988
813 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA133130832
rs199743968
816 S>P No ClinGen
gnomAD
CA362477600
rs199743968
816 S>T No ClinGen
gnomAD
rs1460650771
CA362477591
817 I>V No TOPMed
ClinGen
CA362477540
rs1561634841
819 E>D No ClinGen
Ensembl
rs11545788
CA3601987
819 E>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs775677343
CA3601986
821 E>D No ExAC
gnomAD
ClinGen
CA3601985
rs772508518
824 Y>H No ExAC
gnomAD
ClinGen
rs748833395
CA3601983
825 M>L No ClinGen
ExAC
gnomAD
rs372854105
CA3601981
826 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3601982
rs372854105
826 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1022090797
CA133129046
829 A>D No ClinGen
Ensembl
rs1366535829
CA362476971
830 K>Q No TOPMed
ClinGen
rs753139399
CA3601949
830 K>R No ClinGen
ExAC
gnomAD
CA362476962
rs768125776
831 H>P No ExAC
gnomAD
ClinGen
CA3601948
rs768125776
831 H>R No ClinGen
ExAC
gnomAD
rs1430651877
CA362476963
831 H>Y No ClinGen
TOPMed
gnomAD
CA3601945
rs546634706
835 Q>H No ClinGen
1000Genomes
ExAC
gnomAD
CA362476935
rs1343260869
835 Q>R No ClinGen
TOPMed
CA362476912
rs761505365
838 G>A No ClinGen
ExAC
gnomAD
rs761505365
CA3601944
838 G>E No ClinGen
ExAC
gnomAD
CA362476904
rs776433188
839 C>* No ExAC
gnomAD
ClinGen
rs6896808
CA3601942
841 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA362476883
rs1290650396
841 R>H No ClinGen
TOPMed
gnomAD
CA362476850
rs1361376290
843 M>I No ClinGen
gnomAD
rs746591840
CA3601941
843 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs148516399
CA3601939
845 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs745825227
CA3601938
846 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs529462709
CA3601937
846 R>H No ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 846 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757057011
CA3601936
847 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
rs1365185051
CA362476825
847 R>W No ClinGen
TOPMed
gnomAD
CA362476819
rs1426925486
848 D>A No gnomAD
ClinGen
CA362476818
rs1426925486
848 D>G No gnomAD
ClinGen
rs1158460863
CA362476806
850 S>G No ClinGen
gnomAD
CA133128991
rs909623992
851 L>M No ClinGen
TOPMed
gnomAD
rs909623992
CA133128988
851 L>V No TOPMed
gnomAD
ClinGen
rs753993752
CA3601935
855 E>K No ExAC
gnomAD
ClinGen
rs756134732
CA3601933
858 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA3601934
rs144588026
858 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3601932
rs752868244
859 I>L No ExAC
TOPMed
gnomAD
ClinGen
CA3601931
rs767878657
859 I>T No ClinGen
ExAC
gnomAD
rs752868244
CA362476728
859 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA362476711
rs1365437990
860 D>A No TOPMed
ClinGen
CA3601930
rs760046905
860 D>N No ClinGen
ExAC
gnomAD
rs1204420711
CA362476698
861 A>G No ClinGen
gnomAD
rs200360783
CA3601928
861 A>P No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs200360783
CA3601929
861 A>T No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs776414875
CA3601926
862 S>G No ExAC
TOPMed
gnomAD
ClinGen
rs768474678
CA133128947
862 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs776414875
CA3601927
862 S>R No ExAC
TOPMed
gnomAD
ClinGen
rs768474678
CA3601925
862 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs760076601
CA3601924
863 Q>H No ExAC
gnomAD
ClinGen
rs771506816
CA3601922
865 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
rs775027882
CA3601923
865 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1229327129
CA362476612
868 F>S No ClinGen
TOPMed
CA362476605
rs1449885614
869 A>T No ClinGen
TOPMed
rs1248922401
CA362476574
871 L>V No TOPMed
ClinGen
CA362476565
rs1200019119
872 T>S No ClinGen
TOPMed
gnomAD
CA3601921
rs745761923
873 P>A No ExAC
gnomAD
ClinGen
rs1331970658
CA362476542
874 W>* No ClinGen
gnomAD
CA362476517
rs1318084783
876 C>Y No gnomAD
ClinGen
CA3601919
rs770707214
878 S>Y No ClinGen
ExAC
gnomAD
rs749138539
CA3601918
882 L>V No ClinGen
ExAC
gnomAD
COSM3827849
CA3601916
rs756398026
COSM3827850
886 R>C breast [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1196788168
COSM1436591
CA362476409
COSM1436592
886 R>H large_intestine [Cosmic] No gnomAD
ClinGen
cosmic curated
CA362476406
rs1196788168
886 R>L No gnomAD
ClinGen
CA362476392
rs1246984574
887 M>I No ClinGen
gnomAD
CA133128891
rs1019415798
887 M>V No ClinGen
TOPMed
TCGA novel 888 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362476378
rs1192198144
889 R>G No ClinGen
gnomAD
rs781282105
CA3601914
891 L>P No ClinGen
ExAC
gnomAD
CA3601913
rs114919910
892 D>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1450886180
CA362476351
893 E>G No ClinGen
gnomAD
CA3601911
rs762340501
893 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA3601909
rs750859598
894 N>I No ClinGen
ExAC
gnomAD
CA3601908
rs765731387
895 K>E No ExAC
gnomAD
ClinGen
COSM1543538
rs148980801
COSM1543539
CA3601907
896 D>E lung [Cosmic] No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
CA362476318
rs969467317
896 D>H No gnomAD
ClinGen
rs969467317
CA133128857
896 D>Y No ClinGen
gnomAD
CA3601906
rs775020533
897 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA362476288
rs1452587604
898 L>P No ClinGen
gnomAD
CA362476269
rs1404633379
900 N>D No ClinGen
gnomAD
CA3601903
rs774257587
900 N>I No ExAC
gnomAD
ClinGen
rs1415749388
CA362476237
902 K>T No gnomAD
ClinGen
CA3601902
rs72813746
904 F>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA362476213
rs1354823407
904 F>L No ClinGen
TOPMed
CA133128834
rs998031088
905 V>A No ClinGen
Ensembl
rs769495661
CA3601900
905 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA3601899
rs769495661
905 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1206984710
CA362476177
907 G>R No ClinGen
TOPMed
TCGA novel 907 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1039304991
CA133128818
908 M>I No ClinGen
gnomAD
CA3601895
rs747139223
908 M>L No ExAC
gnomAD
ClinGen
CA362476089
rs1208901649
909 S>I No TOPMed
ClinGen
rs74520199
CA3601876
910 G>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs780236191
CA3601877
910 G>R No ClinGen
ExAC
gnomAD
CA3601875
rs746313268
911 M>I No ClinGen
ExAC
gnomAD
CA362476065
rs1183930581
911 M>R No TOPMed
ClinGen
rs1257543287
CA362476053
912 Y>C No ClinGen
TOPMed
rs1175553209
CA362476026
914 G>E No gnomAD
ClinGen
rs757628698
CA3601873
914 G>R No ExAC
gnomAD
ClinGen
CA3601872
rs754203354
915 D>V No ClinGen
ExAC
gnomAD
rs754583071
CA3601870
917 T>I No ClinGen
ExAC
gnomAD
CA362475986
rs1414185372
918 E>K No ClinGen
TOPMed
CA362475968
rs564012229
919 K>* No ClinGen
gnomAD
rs564012229
CA133128568
919 K>E No gnomAD
ClinGen
rs564012229
CA362475971
919 K>Q No ClinGen
gnomAD
rs765814771
CA3601868
921 K>R No ClinGen
ExAC
gnomAD
CA362475930
rs1282846217
922 V>M No gnomAD
ClinGen
CA362475920
rs1226002450
923 L>F No gnomAD
ClinGen
CA808340658
rs1451422377
924 Y>* No ClinGen
TOPMed
CA362475907
rs1351848256
924 Y>C No ClinGen
gnomAD
CA3601865
rs765140203
925 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs1395321886
CA362475879
926 L>Q No TOPMed
ClinGen
rs1423785342
CA362475860
928 L>F No gnomAD
ClinGen
rs776252024
CA3601863
928 L>R No ClinGen
ExAC
gnomAD
rs142317481
CA3601862
930 P>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1318206953
CA362475241
933 S>G No gnomAD
ClinGen
CA362475239
rs1175135980
933 S>I No ClinGen
gnomAD
CA133127509
rs1050223213
934 P>Q No TOPMed
gnomAD
ClinGen
CA133127514
rs999110823
COSM1267487
COSM1267486
934 P>S oesophagus [Cosmic] No TOPMed
ClinGen
cosmic curated
rs1423991941
CA362475203
938 E>D No ClinGen
gnomAD
rs372426915
CA3601807
938 E>K No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs561596871
CA133127503
939 S>L No 1000Genomes
gnomAD
ClinGen
CA362475196
rs1374457356
940 A>T No gnomAD
ClinGen
TCGA novel 943 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362475172
rs1478864000
943 A>V No ClinGen
gnomAD
rs752701627
CA3601805
944 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
CA3601804
rs767362267
945 H>R No ExAC
TOPMed
gnomAD
ClinGen
rs754805494
CA3601803
946 Y>S No ClinGen
ExAC
gnomAD
CA362475148
rs1582074212
947 F>S No Ensembl
ClinGen
rs141077968
CA3601802
948 T>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3601801
rs756699444
949 E>Q No ExAC
TOPMed
gnomAD
ClinGen
CA3601800
rs762917377
950 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA362475106
rs1346076700
953 S>L No gnomAD
ClinGen
rs1582074189
CA362475105
954 E>* No Ensembl
ClinGen
rs760202240 958 L>S No ExAC
gnomAD
rs765026865
CA3601753
958 L>V No ExAC
gnomAD
ClinGen
rs771788632 959 A>* No Ensembl
CA3601751
rs374973998
961 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA362475052
rs374973998
961 D>Y No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA133127227
rs447727
962 L>M No Ensembl
ClinGen
CA133127236
rs447727
962 L>V No Ensembl
ClinGen
rs752109318 964 L>E No ExAC
gnomAD
rs150112354
CA3601750
964 L>H No 1000Genomes
ExAC
gnomAD
ClinGen
rs759413009 966 L>R No ExAC
gnomAD
CA362475020
rs1166121270
966 L>V No TOPMed
ClinGen
CA362475001
rs1261825206
969 E>K No TOPMed
gnomAD
ClinGen
TCGA novel 970 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200195260
CA3601748
971 Q>* No ClinGen
1000Genomes
ExAC
gnomAD
rs200195260
CA362474986
971 Q>E No ClinGen
1000Genomes
ExAC
gnomAD
rs1170591605 971 Q>E No TOPMed
gnomAD
rs1401130664 971 Q>R No gnomAD
rs112874568 972 E>G No Ensembl
rs879622241
CA133126661
973 A>G No Ensembl
ClinGen
rs201649667 974 L>E No Ensembl
CA133126658
rs773073887
974 L>P No gnomAD
ClinGen
CA3601712
rs760202240
975 P>S No ClinGen
ExAC
gnomAD
rs780679842 975 P>V No ExAC
gnomAD
CA133126651
rs771788632
976 Q>* No ClinGen
Ensembl
rs1307170511 976 Q>N No gnomAD
rs772419777 977 E>R No ExAC
TOPMed
gnomAD
rs1180617681 978 E>F No TOPMed
TCGA novel 978 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs112342892 981 G>C No ESP
ExAC
TOPMed
gnomAD
CA3601711
rs752109318
981 G>E No ClinGen
ExAC
gnomAD
rs112342892 981 G>S No ESP
ExAC
TOPMed
gnomAD
rs150489902 982 S>W No ESP
ExAC
TOPMed
gnomAD
rs754461829 983 G>L No ExAC
gnomAD
rs754461829 983 G>P No ExAC
gnomAD
rs759413009
CA3601710
CA3601709
983 G>R No ClinGen
ExAC
gnomAD
TCGA novel 985 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751109703 986 E>* No ExAC
gnomAD
rs200057303 986 E>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200057303 986 E>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs79293303 987 R>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA362474497
rs1170591605
988 G>E No ClinGen
TOPMed
gnomAD
CA362474509
rs1401130664
988 G>R No ClinGen
gnomAD
rs112874568
CA133126389
989 E>G No ClinGen
Ensembl
rs1450479785 989 E>T No gnomAD
rs750385482 990 E>Q No ExAC
gnomAD
rs764871955 991 K>D No ExAC
TOPMed
gnomAD
CA133126384
rs201649667
991 K>E No ClinGen
Ensembl
rs759918639 992 G>E No Ensembl
rs780679842
CA3601680
992 G>V No ClinGen
ExAC
gnomAD
rs1307170511
CA362474293
993 T>N No ClinGen
gnomAD
CA362474282
rs1582071426
994 S>C No ClinGen
Ensembl
rs772419777
CA3601679
994 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs761760972 995 S>* No ExAC
gnomAD
CA362474257
rs1180617681
995 S>F No ClinGen
TOPMed
COSM420749
CA362474243
rs1356180868
COSM1133735
996 P>L urinary_tract [Cosmic] No TOPMed
gnomAD
ClinGen
cosmic curated
rs201069565 997 D>D No ExAC
gnomAD
rs1298614639 998 Y>A No gnomAD
rs112342892
CA3601676
998 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs112342892
CA362474213
998 Y>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3601674
rs780879504
999 R>Q No ExAC
TOPMed
gnomAD
ClinGen
CA3601675
rs150489902
999 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA362474185
rs754461829
1000 H>L No ClinGen
ExAC
gnomAD
CA3601673
rs754461829
1000 H>P No ClinGen
ExAC
gnomAD
rs1561631380
CA362474183
1000 H>Q No ClinGen
Ensembl
rs199868094 1001 Y>N No TOPMed
gnomAD
rs751109703
COSM1066722
CA3601670
COSM1595288
1003 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs200057303
CA362474121
1003 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200057303
CA3601669
1003 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs772208263 1003 R>S No ExAC
gnomAD
rs772208263 1003 R>T No ExAC
gnomAD
rs79293303
CA3601668
1004 M>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1450479785
CA362474080
1006 A>T No ClinGen
gnomAD
rs750385482
CA3601667
1007 K>Q No ClinGen
ExAC
gnomAD
rs764871955
CA3601666
1008 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs201051546 1008 E>K No ExAC
TOPMed
gnomAD
rs759918639
CA133126342
1009 K>E No ClinGen
Ensembl
rs761760972
CA3601665
1012 Q>* No ClinGen
ExAC
gnomAD
TCGA novel 1013 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3601663
rs201069565
1014 E>D No ClinGen
ExAC
gnomAD
rs1298614639
CA362473968
1015 T>A No ClinGen
gnomAD
rs561194613
CA3601662
1015 T>K No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs561194613
COSM1672184
COSM1672183
CA3601661
1015 T>M haematopoietic_and_lymphoid_tissue [Cosmic] No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
rs773516159 1016 I>M No ExAC
gnomAD
rs1056764972
CA133126335
1017 K>R No ClinGen
Ensembl
TCGA novel 1018 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362473929
rs1462071128
1018 D>G No gnomAD
ClinGen
rs199868094
CA133126333
1018 D>N No ClinGen
TOPMed
gnomAD
rs1561630641 1019 L>K No Ensembl
rs772208263
CA3601660
1020 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA362473917
rs772208263
1020 P>T No ClinGen
ExAC
gnomAD
rs994995442 1022 M>T No Ensembl
rs1582070175 1024 Q>A No Ensembl
rs201051546
CA3601640
1025 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs375851946 1025 E>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs371420876 1028 I>R No ESP
ExAC
TOPMed
gnomAD
rs1209142187
CA362473130
1028 I>T No gnomAD
ClinGen
rs753844953 1029 E>N No ExAC
gnomAD
rs201894738 1030 L>M No ESP
ExAC
TOPMed
gnomAD
CA362473096
rs1354081526
1031 C>G No ClinGen
TOPMed
rs1582070129 1031 C>S No Ensembl
rs182237308 1032 K>D No 1000Genomes
ExAC
gnomAD
rs1206610304
CA362473087
1032 K>E No ClinGen
TOPMed
rs773516159
CA3601637
1033 T>M No ClinGen
ExAC
gnomAD
rs759500259 1033 T>T No ExAC
TOPMed
gnomAD
rs1341328013 1034 L>T No gnomAD
rs1561630641
CA362472990
1036 N>K No ClinGen
Ensembl
rs773712275 1037 M>M No ExAC
gnomAD
rs903648742 1038 F>V No TOPMed
CA3601634
rs147946905
1039 S>G No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs994995442
CA133125866
1039 S>T No ClinGen
Ensembl
rs779821200
CA3601633
1040 E>D No ClinGen
ExAC
gnomAD
TCGA novel 1040 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1582070175
CA362472890
1041 D>A No ClinGen
Ensembl
CA3601632
rs771462049
1041 D>H No ClinGen
ExAC
gnomAD
CA3601631
rs375851946
1042 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs948105857 1043 M>H No TOPMed
gnomAD
rs1174753054
CA362472823
1044 E>* No gnomAD
ClinGen
rs778318050
CA3601630
1045 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs552871928 1045 Q>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs371420876
CA3601629
1045 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1046 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753844953
CA3601628
1046 D>H No ClinGen
ExAC
gnomAD
CA362472786
rs753844953
1046 D>N No ClinGen
ExAC
gnomAD
rs774975732 1047 L>L No ExAC
TOPMed
gnomAD
rs201894738
COSM1162815
CA3601627
COSM1162816
1047 L>M pancreas [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA362472764
rs1582070129
1048 Y>S No ClinGen
Ensembl
CA3601625
rs182237308
1049 H>D No ClinGen
1000Genomes
ExAC
gnomAD
COSM1436590
COSM1436589
rs759500259
CA3601623
1050 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA362472725
rs1341328013
1051 I>T No ClinGen
gnomAD
rs199637229
CA3601620
1052 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs773712275
CA3601619
1054 V>M No ClinGen
ExAC
gnomAD
rs1253671054 1055 A>K No TOPMed
CA133125821
rs903648742
1055 A>V No ClinGen
TOPMed
CA133125818
rs200438741
1060 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
TOPMed
gnomAD
CA133125815
rs948105857
1060 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1337185747 1061 I>N No gnomAD
rs1313867299
CA362472637
1061 I>V No gnomAD
ClinGen
CA3601617
rs552871928
1062 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 1063 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3601615
rs771716008
1064 V>G No ExAC
gnomAD
ClinGen
CA3601616
rs774975732
1064 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA362472598
rs774975732
1064 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA362472584
rs1163654306
1066 K>* No ClinGen
gnomAD
rs541008254 1066 K>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs372299714 1068 F>K No ESP
ExAC
TOPMed
gnomAD
rs537504596 1070 A>T No 1000Genomes
ExAC
TOPMed
gnomAD
CA3601612
rs144624491
1071 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1436588
rs185070653
COSM1436587
CA3601611
1071 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA362472539
rs1253671054
1072 T>K No ClinGen
TOPMed
rs147706585 1073 G>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1396157907 1074 R>M No gnomAD
rs768916841 1074 R>P No ExAC
TOPMed
gnomAD
rs777917427
CA3601609
1076 P>S No ExAC
TOPMed
gnomAD
ClinGen
rs1337185747
CA362472505
1078 D>N No ClinGen
gnomAD
rs1324124077 1078 D>V No TOPMed
rs1481316837 1081 T>K No TOPMed
CA362472466
rs1582069971
1083 E>G No Ensembl
ClinGen
rs541008254
CA3601607
1083 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs751743000
CA3601603
1085 E>G No ClinGen
ExAC
gnomAD
CA3601604
rs372299714
1085 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs748054344 1086 P>G No ExAC
gnomAD
VAR_036196 1086 P>Q a breast cancer sample; somatic mutation [UniProt] No UniProt
rs537504596
CA3601601
1087 P>S No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA362472442
rs537504596
1087 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs61735498 1087 P>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1582069856 1089 P>A No Ensembl
rs147706585
CA3601597
1090 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3601598
rs147706585
1090 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA362472419
rs1396157907
1091 L>M No ClinGen
gnomAD
CA3601596
rs768916841
1091 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs1372543241 1092 H>T No gnomAD
rs149290693 1094 D>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs113335971
CA3601593
1095 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ESP
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA362472387
rs1324124077
1095 A>V No ClinGen
TOPMed
CA362472385
rs1419598787
1096 A>P No ClinGen
TOPMed
gnomAD
CA362472386
rs1419598787
1096 A>T No TOPMed
gnomAD
ClinGen
rs770555107
CA3601592
1096 A>V No ExAC
TOPMed
gnomAD
ClinGen
rs1481316837
CA362472374
1098 E>K No ClinGen
TOPMed
rs766172495 1101 P>E No ExAC
TOPMed
gnomAD
rs1026731315
CA133125755
1101 P>L No ClinGen
Ensembl
rs774127324 1101 P>R No ExAC
TOPMed
gnomAD
rs748854154
CA3601591
1101 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs769197080 1103 A>D No ExAC
gnomAD
CA3601588
rs748054344
1103 A>G No ClinGen
ExAC
gnomAD
rs769727219
CA3601589
1103 A>T No ExAC
gnomAD
ClinGen
rs1348917384
CA362472338
1104 A>T No gnomAD
ClinGen
CA3601587
rs61735498
1104 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1582069856
CA362472323
1106 D>A No ClinGen
Ensembl
CA362472321
rs1331006213
1106 D>E No gnomAD
ClinGen
CA3601585
rs368237049
1107 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1303498683 1107 P>T No gnomAD
rs768483268 1108 Q>E No ExAC
TOPMed
gnomAD
CA362472314
rs1582069845
1108 Q>K No ClinGen
Ensembl
rs1023877851 1109 A>A No TOPMed
rs1372543241
CA362472305
1109 A>T No ClinGen
gnomAD
rs758572683 1111 A>G No ExAC
TOPMed
gnomAD
CA3601582
rs149290693
1111 A>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1382417658
CA362472290
1111 A>V No ClinGen
TOPMed
gnomAD
rs1160055298
CA362472284
1112 G>D No gnomAD
ClinGen
rs142401945 1113 G>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs375672084
CA3601580
1113 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142401945 1113 G>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs146018049 1113 G>W No ESP
ExAC
TOPMed
gnomAD
rs754360253 1114 D>S No ExAC
gnomAD
rs1167381787 1114 D>V No gnomAD
rs137877957 1116 H>C No ESP
ExAC
TOPMed
gnomAD
rs754309643
CA3601579
1116 H>R No ExAC
gnomAD
ClinGen
CA3601575
rs766172495
1118 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA3601577
rs774127324
CA3601576
1118 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1350265879 1119 K>* No TOPMed
rs761286268 1119 K>H No ExAC
gnomAD
CA362472242
rs30386
1119 K>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs148212311 1119 K>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3601573
rs30386
VAR_032442
1119 K>T No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA3601572
rs769197080
1120 A>D No ClinGen
ExAC
gnomAD
CA362472236
rs1386160676
1120 A>P No TOPMed
ClinGen
CA362472220
rs1278731685
1121 P>L No gnomAD
ClinGen
rs577443409 1122 Q>L No 1000Genomes
ExAC
TOPMed
gnomAD
CA3601571
rs372091880
1122 Q>P No ClinGen
ESP
ExAC
gnomAD
CA3601570
rs368069686
1123 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1123 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1296275529 1124 S>H No TOPMed
rs559207451 1124 S>R No 1000Genomes
ExAC
rs1303498683
CA362472186
1124 S>T No ClinGen
gnomAD
rs768483268
CA3601569
1125 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs1324299284
CA362472170
1125 Q>H No ClinGen
gnomAD
CA133125692
rs1023877851
1126 V>A No ClinGen
TOPMed
CA3601568
rs779857266
1126 V>L No ExAC
gnomAD
ClinGen
CA3601567
rs779857266
1126 V>M No ClinGen
ExAC
gnomAD
rs540973351 1127 V>P No 1000Genomes
ExAC
gnomAD
CA3601566
rs758572683
1128 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA362472152
rs1382538188
1128 V>M No gnomAD
ClinGen
rs765399441
CA3601564
1129 E>D No TOPMed
ClinGen
CA3601561
rs142401945
1130 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA362472124
rs142401945
1130 G>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs146018049
CA362472129
CA362472127
1130 G>R No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs142401945
CA3601562
1130 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3601563
rs146018049
1130 G>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3601560
rs754360253
1131 G>S No ClinGen
ExAC
gnomAD
rs1167381787
CA362472112
1131 G>V No ClinGen
gnomAD
CA3601557
rs137877957
1133 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs182093444
CA133125687
1133 G>D No 1000Genomes
ClinGen
CA3601558
rs137877957
1133 G>S Variant assessed as Somatic; 0.0001387 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3601554
rs141190577
1134 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1350265879
CA362472055
1136 Q>* No ClinGen
TOPMed
CA3601552
COSM402753
rs761286268
1136 Q>H lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs148212311
CA3601553
1136 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs911133646 1137 G>T No gnomAD
CA3601551
rs776608436
1138 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs370188952 1138 S>P No 1000Genomes
ESP
ExAC
gnomAD
rs577443409
CA3601550
1139 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1203046050 1140 S>S No gnomAD
rs1296275529
CA362471997
1141 Q>H No ClinGen
TOPMed
CA3601548
rs559207451
1141 Q>R No ClinGen
1000Genomes
ExAC
CA362471983
rs1271511404
1143 L>P No ClinGen
gnomAD
CA362471974
rs1561630236
1144 S>F No ClinGen
Ensembl
CA3601547
rs540973351
1144 S>P No ClinGen
1000Genomes
ExAC
gnomAD
rs1291079128 1144 S>T No gnomAD
rs573855951
CA362471960
1145 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs372876819 1145 D>M No ESP
TOPMed
gnomAD
TCGA novel 1146 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3601545
rs779066118
1146 D>N No ExAC
TOPMed
gnomAD
ClinGen
rs762515075 1150 D>R No ExAC
TOPMed
gnomAD
rs756638541
CA3601541
1151 D>G No ClinGen
ExAC
gnomAD
rs143770176
CA3601542
1151 D>N No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3601540
rs753265711
1152 M>I No ClinGen
ExAC
gnomAD
rs558309456 1153 S>F No 1000Genomes
ExAC
TOPMed
gnomAD
rs781632028
CA3601539
1154 M>I No ExAC
gnomAD
ClinGen
CA133125650
rs911133646
1154 M>T No ClinGen
gnomAD
rs774603201 1154 M>V No ExAC
gnomAD
CA3601538
rs370188952
1155 S>P No ClinGen
1000Genomes
ESP
ExAC
gnomAD
rs749545069 1156 S>N No ExAC
TOPMed
gnomAD
CA362471789
rs1203046050
1157 Y>S No ClinGen
gnomAD
rs781779074 1158 S>G No ExAC
TOPMed
gnomAD
rs190324553
CA3601536
1158 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200781687
CA133125634
1160 V>I No 1000Genomes
ClinGen
rs139669983 1160 V>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs751908813 1161 S>D No ExAC
gnomAD
rs753239543
CA3601534
1161 S>R No ExAC
TOPMed
gnomAD
ClinGen
rs1291079128
CA362471739
1161 S>T No ClinGen
gnomAD
CA133125622
rs372876819
1162 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
rs139354975 1162 T>R No ESP
ExAC
TOPMed
gnomAD
CA362471726
rs372876819
1162 T>R No ESP
TOPMed
gnomAD
ClinGen
rs763676157
CA3601533
1162 T>S No ExAC
gnomAD
ClinGen
rs999574922 1164 S>D No gnomAD
rs1225549562
CA362471710
1164 S>F No ClinGen
gnomAD
CA3601530
rs762515075
1167 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs775109007 1169 D>G No ExAC
TOPMed
gnomAD
rs199919105 1170 L>C No 1000Genomes
ExAC
gnomAD
rs558309456
CA362471672
1170 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs759504844 1170 L>H No ExAC
TOPMed
gnomAD
rs558309456
CA3601529
1170 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs774603201
CA3601528
1171 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs549926617 1172 D>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs763014066 1172 D>V No ExAC
TOPMed
gnomAD
CA3601526
rs749545069
1173 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs769980024 1173 D>S No ExAC
TOPMed
gnomAD
rs201597446
CA3601524
1174 T>A No ClinGen
1000Genomes
TOPMed
CA3601523
rs566315520
1174 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201597446
CA133125577
1174 T>S No 1000Genomes
TOPMed
ClinGen
rs781779074
CA3601520
1175 V>E No ClinGen
ExAC
TOPMed
gnomAD
rs374483912 1175 V>F No ESP
ExAC
TOPMed
gnomAD
rs781779074
CA3601521
1175 V>G No ClinGen
ExAC
TOPMed
gnomAD
rs374483912 1175 V>I No ESP
ExAC
TOPMed
gnomAD
rs1037113844 1177 V>A No TOPMed
gnomAD
CA362471633
rs1178661318
1177 V>A No ClinGen
gnomAD
CA3601519
rs139669983
1177 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs747566838 1177 V>S No ExAC
gnomAD
rs1233495394 1178 G>A No gnomAD
CA3601518
rs751908813
1178 G>D No ClinGen
ExAC
gnomAD
rs777455692 1178 G>E No ExAC
gnomAD
rs142373241 1178 G>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA362471631
rs1457184613
1178 G>S No ClinGen
gnomAD
rs755595092 1179 G>* No ExAC
TOPMed
gnomAD
rs139354975
CA3601515
1179 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1582069258 1180 E>G No Ensembl
CA362471610
rs999574922
1181 A>D No ClinGen
gnomAD
CA133125544
rs999574922
1181 A>G No ClinGen
gnomAD
CA3601514
rs763590924
1181 A>T No ExAC
gnomAD
ClinGen
rs767038894 1182 C>F No ExAC
gnomAD
CA362471597
rs1221899169
1183 S>N No gnomAD
ClinGen
rs1237164470
CA362471590
1184 P>L No ClinGen
TOPMed
rs1326246733 1184 P>Q No TOPMed
rs1375415645
CA362471591
1184 P>S No gnomAD
ClinGen
CA362471578
rs775109007
1186 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA133125542
rs775109007
1186 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA3601513
rs775109007
1186 A>V No ExAC
TOPMed
gnomAD
ClinGen
CA3601511
rs199919105
1187 R>C No ClinGen
1000Genomes
ExAC
gnomAD
rs759504844
CA3601510
1187 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs754810623 1187 R>V No ExAC
gnomAD
rs1267640330 1189 G>P No gnomAD
CA3601508
COSM1228624
COSM1228625
rs549926617
1189 G>S large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA3601507
rs763014066
1189 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs769980024
CA3601505
1190 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA362471556
rs1173562511
1191 T>A No gnomAD
ClinGen
CA362471550
rs374483912
1192 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3601504
rs374483912
1192 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs186133581 1192 V>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3601502
rs146904313
1193 D>N No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA133125512
rs1037113844
1194 T>A No ClinGen
TOPMed
gnomAD
CA362471539
rs1037113844
1194 T>P No TOPMed
gnomAD
ClinGen
rs747566838
CA3601501
1194 T>S No ClinGen
ExAC
gnomAD
rs1233495394
CA362471527
1195 D>A No ClinGen
gnomAD
CA3601497
rs777455692
1195 D>E No ClinGen
ExAC
gnomAD
CA3601499
rs142373241
1195 D>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs765595335 1195 D>M No ExAC
TOPMed
gnomAD
CA3601500
rs142373241
1195 D>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs755595092
CA3601496
1196 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs755595092
CA362471506
1196 W>C No ClinGen
ExAC
TOPMed
gnomAD
CA362471510
rs1561630001
1196 W>S No Ensembl
ClinGen
CA362471497
rs1582069258
1197 C>G No ClinGen
Ensembl
rs767038894
CA3601494
1199 S>F No ClinGen
ExAC
gnomAD
CA362471443
rs1326246733
1201 E>Q No ClinGen
TOPMed
rs373286778 1203 I>K No ESP
ExAC
TOPMed
gnomAD
rs754810623
CA3601493
1204 L>V No ClinGen
ExAC
gnomAD
rs147664127 1205 A>Y No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs763204210 1206 S>M No ExAC
gnomAD
rs1267640330
CA362471381
1206 S>P No ClinGen
gnomAD
rs943376192
CA133125477
1207 I>V No ClinGen
TOPMed
rs186133581
CA3601490
1209 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1306994088 1209 T>Q No gnomAD
rs780611698 1209 T>R No ExAC
gnomAD
CA362471318
rs1397474201
1210 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs765595335
CA3601487
1212 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA3601485
CA3601484
rs768862623
1214 V>L No ExAC
gnomAD
ClinGen
rs1387795785 1217 F>D No gnomAD
rs766387731 1218 E>* No ExAC
gnomAD
CA362471198
rs1481395684
1218 E>Q No ClinGen
TOPMed
rs758097931 1219 K>* No ExAC
rs559074520 1219 K>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs754181516 1220 R>C No ExAC
gnomAD
CA3601482
rs373286778
1220 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3601483
rs373286778
1220 R>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764068590 1221 V>T No ExAC
gnomAD
CA3601481
rs147664127
1222 D>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA3601480
rs147664127
1222 D>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3601479
rs779282947
1223 I>F No ExAC
gnomAD
ClinGen
rs763204210
CA3601477
1223 I>M No ClinGen
ExAC
gnomAD
rs151265651 1223 I>S No ESP
ExAC
TOPMed
gnomAD
rs1282452360
CA362471130
1223 I>T No ClinGen
TOPMed
gnomAD
rs1343046231 1224 G>C No TOPMed
CA3601474
rs370591560
1226 K>N No ClinGen
ESP
TOPMed
gnomAD
CA362471092
rs1306994088
1226 K>Q No ClinGen
gnomAD
CA3601476
rs780611698
1226 K>R No ClinGen
ExAC
gnomAD
rs1318842597 1228 K>H No gnomAD
rs1341434004
CA362471055
1228 K>N No gnomAD
ClinGen
rs1292931903 1229 D>L No gnomAD
rs1290411469
CA362471051
1229 D>N No ClinGen
gnomAD
rs1413375542
CA362471028
1231 K>Q No ClinGen
gnomAD
rs1231800773 1232 K>A No gnomAD
CA3601473
rs200909191
1232 K>E No 1000Genomes
ExAC
gnomAD
ClinGen
rs1231800773 1232 K>P No gnomAD
rs201359120 1233 V>S No 1000Genomes
ExAC
TOPMed
gnomAD
CA362470916
rs1387795785
1234 E>D No ClinGen
gnomAD
rs1395052990 1234 E>R No gnomAD
CA3601471
rs766387731
1235 R>* No ClinGen
ExAC
gnomAD
rs758097931
CA3601470
1236 Q>* No ClinGen
ExAC
CA3601467
CA3601468
rs559074520
1236 Q>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3601469
rs140510119
1236 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754181516
CA3601466
1237 F>C No ClinGen
ExAC
gnomAD
CA3601465
rs764068590
1238 S>T No ClinGen
ExAC
gnomAD
CA362470793
rs1470640456
1239 T>I No TOPMed
gnomAD
ClinGen
CA3601464
rs151265651
1240 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3601463
rs151265651
1240 A>T No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA362470770
rs1343046231
1241 S>C No ClinGen
TOPMed
rs772596176
CA3601462
1241 S>R No ClinGen
ExAC
gnomAD
CA3601461
rs200206861
1242 D>N No ExAC
TOPMed
gnomAD
ClinGen
rs1249682729
CA362470725
1243 H>Y No gnomAD
ClinGen
CA3601460
rs774643483
1244 E>A No ExAC
gnomAD
ClinGen
TCGA novel 1244 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA362470671
rs1318842597
1245 Q>H No ClinGen
gnomAD
CA362470660
rs1292931903
1246 P>L No ClinGen
gnomAD
rs1231800773
CA362470613
1249 S>A No ClinGen
gnomAD
CA362470618
rs1231800773
1249 S>P No ClinGen
gnomAD
CA362470577
rs1391308673
1250 G>D No gnomAD
ClinGen
CA3601458
rs201359120
1250 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1395052990
CA362470566
1251 G>R No ClinGen
gnomAD

No associated diseases with Q66K14

1 regional properties for Q66K14

Type Name Position InterPro Accession
domain Rab-GAP-TBC domain 98 - 316 IPR000195

Functions

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

1 GO annotations of cellular component

Name Definition
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.

2 GO annotations of molecular function

Name Definition
calcium ion binding Binding to a calcium ion (Ca2+).
GTPase activator activity Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.

1 GO annotations of biological process

Name Definition
activation of GTPase activity Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP.

29 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A0A087X1G2 TBC1D3K TBC1 domain family member 3K Homo sapiens (Human) PR
B9A6J9 TBC1D3L TBC1 domain family member 3L Homo sapiens (Human) PR
Q6ZT07 TBC1D9 TBC1 domain family member 9 Homo sapiens (Human) PR
Q9HA65 TBC1D17 TBC1 domain family member 17 Homo sapiens (Human) PR
Q6DHY5 TBC1D3G TBC1 domain family member 3G Homo sapiens (Human) PR
A0A087WVF3 TBC1D3D TBC1 domain family member 3D Homo sapiens (Human) PR
A0A087WXS9 TBC1D3I TBC1 domain family member 3I Homo sapiens (Human) PR
P0C7X1 TBC1D3H TBC1 domain family member 3H Homo sapiens (Human) PR
A0A087X179 TBC1D3E TBC1 domain family member 3E Homo sapiens (Human) PR
A6NDS4 TBC1D3B TBC1 domain family member 3B Homo sapiens (Human) PR
Q8WUA7 TBC1D22A TBC1 domain family member 22A Homo sapiens (Human) PR
Q8IZP1 TBC1D3 TBC1 domain family member 3 Homo sapiens (Human) PR
Q6IPX1 TBC1D3C TBC1 domain family member 3C Homo sapiens (Human) PR
A6NER0 TBC1D3F TBC1 domain family member 3F Homo sapiens (Human) PR
Q8IV04 TBC1D10C Carabin Homo sapiens (Human) PR
Q5TC63 GRTP1 Growth hormone-regulated TBC protein 1 Homo sapiens (Human) PR
O60343 TBC1D4 TBC1 domain family member 4 Homo sapiens (Human) PR
Q86TI0 TBC1D1 TBC1 domain family member 1 Homo sapiens (Human) PR
O60447 EVI5 Ecotropic viral integration site 5 protein homolog Homo sapiens (Human) PR
Q3MII6 TBC1D25 TBC1 domain family member 25 Homo sapiens (Human) PR
Q2NKQ1 SGSM1 Small G protein signaling modulator 1 Homo sapiens (Human) PR
Q8TC07 TBC1D15 TBC1 domain family member 15 Homo sapiens (Human) PR
O95759 TBC1D8 TBC1 domain family member 8 Homo sapiens (Human) PR
Q0IIM8 TBC1D8B TBC1 domain family member 8B Homo sapiens (Human) PR
Q8TEA7 TBCK TBC domain-containing protein kinase-like protein Homo sapiens (Human) PR
Q9UPU7 TBC1D2B TBC1 domain family member 2B Homo sapiens (Human) PR
A3KGB4 Tbc1d8b TBC1 domain family member 8B Mus musculus (Mouse) PR
Q3UYK3 Tbc1d9 TBC1 domain family member 9 Mus musculus (Mouse) PR
Q9Z1A9 Tbc1d8 TBC1 domain family member 8 Mus musculus (Mouse) PR
10 20 30 40 50 60
MWLSPEEVLV ANALWVTERA NPFFVLQRRR GHGRGGGLTG LLVGTLDVVL DSSARVAPYR
70 80 90 100 110 120
ILHQTQDSQV YWTVACGSSR KEITKHWEWL ENNLLQTLSI FDSEEDITTF VKGKIHGIIA
130 140 150 160 170 180
EENKNLQPQG DEDPGKFKEA ELKMRKQFGM PEGEKLVNYY SCSYWKGRVP RQGWLYLTVN
190 200 210 220 230 240
HLCFYSFLLG KEVSLVVQWV DITRLEKNAT LLFPESIRVD TRDQELFFSM FLNIGETFKL
250 260 270 280 290 300
MEQLANLAMR QLLDSEGFLE DKALPRPIRP HRNISALKRD LDARAKNECY RATFRLPRDE
310 320 330 340 350 360
RLDGHTSCTL WTPFNKLHIP GQMFISNNYI CFASKEEDAC HLIIPLREVT IVEKADSSSV
370 380 390 400 410 420
LPSPLSISTK SKMTFLFANL KDRDFLVQRI SDFLQKTPSK QPGSIGSRKA SVVDPSTESS
430 440 450 460 470 480
PAPQEGSEQP ASPASPLSSR QSFCAQEAPT ASQGLLKLFQ KNSPMEDLGA KGAKEKMKEE
490 500 510 520 530 540
SWHIHFFEYG RGVCMYRTAK TRALVLKGIP ESLRGELWLL FSGAWNEMVT HPGYYAELVE
550 560 570 580 590 600
KSTGKYSLAT EEIERDLHRS MPEHPAFQNE LGIAALRRVL TAYAFRNPTI GYCQAMNIVT
610 620 630 640 650 660
SVLLLYGSEE EAFWLLVALC ERMLPDYYNT RVVGALVDQG IFEELTRDFL PQLSEKMQDL
670 680 690 700 710 720
GVISSISLSW FLTLFLSVMP FESAVVIVDC FFYEGIKVIL QVALAVLDAN MEQLLGCSDE
730 740 750 760 770 780
GEAMTMLGRY LDNVVNKQSV SPPIPHLRAL LSSSDDPPAE VDIFELLKVS YEKFSSLRAE
790 800 810 820 830 840
DIEQMRFKQR LKVIQSLEDT AKRSVVRAIP VDIGFSIEEL EDLYMVFKAK HLASQYWGCS
850 860 870 880 890 900
RTMAGRRDPS LPYLEQYRID ASQFRELFAS LTPWACGSHT PLLAGRMFRL LDENKDSLIN
910 920 930 940 950 960
FKEFVTGMSG MYHGDLTEKL KVLYKLHLPP ALSPEEAESA LEAAHYFTED SSSEASPLAS
970 980 990 1000 1010 1020
DLDLFLPWEA QEALPQEEQE GSGSEERGEE KGTSSPDYRH YLRMWAKEKE AQKETIKDLP
1030 1040 1050 1060 1070 1080
KMNQEQFIEL CKTLYNMFSE DPMEQDLYHA IATVASLLLR IGEVGKKFSA RTGRKPRDCA
1090 1100 1110 1120 1130 1140
TEEDEPPAPE LHQDAARELQ PPAAGDPQAK AGGDTHLGKA PQESQVVVEG GSGEGQGSPS
1150 1160 1170 1180 1190 1200
QLLSDDETKD DMSMSSYSVV STGSLQCEDL ADDTVLVGGE ACSPTARIGG TVDTDWCISF
1210 1220 1230 1240
EQILASILTE SVLVNFFEKR VDIGLKIKDQ KKVERQFSTA SDHEQPGVSG