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

2 structures for Q14185

Entry ID Method Resolution Chain Position Source
3L4C X-ray 237 A A/B 422-619 PDB
AF-Q14185-F1 Predicted AlphaFoldDB

1384 variants for Q14185

Variant ID(s) Position Change Description Diseaes Association Provenance
rs758997336
RCV000624248
148 K>missing Inborn genetic diseases [ClinVar] Yes ClinVar
dbSNP
rs767858333
RCV000623431
664 E>missing Inborn genetic diseases [ClinVar] Yes ClinVar
dbSNP
CA215753437
rs1036873070
2 T>M No ClinGen
TOPMed
gnomAD
CA378903891
rs867484120
3 R>C No ClinGen
gnomAD
CA215753438
rs867484120
3 R>S No ClinGen
gnomAD
rs1187500633
CA378903898
4 W>S No ClinGen
TOPMed
rs1359555616
CA378903912
6 P>S No ClinGen
gnomAD
CA5741783
rs768435458
9 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA5741786
rs761671652
12 K>R No ClinGen
ExAC
gnomAD
rs1317871657
CA378904237
17 F>I No ClinGen
TOPMed
rs764444370
CA5741814
20 Y>C No ClinGen
ExAC
gnomAD
CA5741816
rs762217323
23 R>G No ClinGen
ExAC
gnomAD
CA378904287
rs1161315852
23 R>S No ClinGen
gnomAD
TCGA novel 23 R>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 24 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378904297
rs371087791
25 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5741817
rs371087791
25 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs946779078
CA215759880
29 S>T No ClinGen
TOPMed
CA215759881
rs1043592156
CA215759882
31 Q>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA378904340
rs1399680843
32 I>V No ClinGen
gnomAD
rs779548919
CA5741820
33 G>R No ClinGen
ExAC
gnomAD
rs377320265
CA5741821
35 T>A No ClinGen
ESP
ExAC
gnomAD
CA215759883
rs937833335
35 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA5741822
rs754574678
37 H>Y No ClinGen
ExAC
gnomAD
rs771891784
CA378904410
42 Y>* No ClinGen
ExAC
TOPMed
gnomAD
CA5741824
rs747836571
42 Y>H No ClinGen
ExAC
gnomAD
rs553053974
CA5741842
45 W>* No ClinGen
1000Genomes
ExAC
gnomAD
CA378904451
rs1192719948
46 Y>C No ClinGen
gnomAD
CA215760685
rs1054479346
47 R>Q No ClinGen
TOPMed
rs1260759480
CA378904466
49 Y>H No ClinGen
TOPMed
gnomAD
rs757996239
CA5741843
50 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA5741845
rs746815750
52 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs757172365
CA5741846
52 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
CA5741848
rs571267306
53 K>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1377543831
CA378904492
53 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs745842428
CA5741849
54 K>M No ClinGen
ExAC
TOPMed
gnomAD
rs745842428
CA378904498
54 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA378904497
rs745842428
54 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs774630796
CA5741851
56 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA378904511
rs1213564881
56 K>R No ClinGen
TOPMed
CA378904538
rs1467522499
58 G>D No ClinGen
Ensembl
CA5741879
rs779095586
59 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA5741878
rs779095586
59 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs772241085
CA5741880
61 P>S No ClinGen
ExAC
gnomAD
rs1025603420
CA215761174
62 A>T No ClinGen
TOPMed
CA5741881
rs773273898
67 L>P No ClinGen
ExAC
gnomAD
CA5741883
rs771267415
69 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA5741884
rs776990526
70 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA5741887
rs775018138
71 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs199845959
CA5741886
71 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA215761176
rs933923507
72 V>I No ClinGen
TOPMed
TCGA novel 74 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5741899
rs373898575
77 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378904693
rs1216288822
79 E>D No ClinGen
TOPMed
CA378904707
rs1317290044
81 V>A No ClinGen
gnomAD
rs377023959
CA5741902
83 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA215761895
rs377023959
83 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1309261176
CA378904717
83 P>S No ClinGen
gnomAD
rs1484796274
CA378904719
84 G>S No ClinGen
gnomAD
rs979119696
CA215761897
87 P>S No ClinGen
TOPMed
gnomAD
rs1421070388
CA378904746
88 L>F No ClinGen
gnomAD
rs763584443
CA5741905
89 I>M No ClinGen
ExAC
gnomAD
rs1436243796
CA378904751
89 I>V No ClinGen
TOPMed
gnomAD
rs1172446532
CA378904775
92 V>A No ClinGen
gnomAD
rs749011141
CA215761898
94 T>A No ClinGen
gnomAD
rs773928262
CA5741907
94 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs770313952
CA5741909
95 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA378904800
rs1271816524
97 R>* No ClinGen
gnomAD
rs1364200071
CA378904801
97 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs750147964
CA5741910
99 W>C No ClinGen
ExAC
gnomAD
TCGA novel 105 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5741914
rs147989604
108 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5741913
rs147989604
108 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1362910752
CA378694183
110 D>G No ClinGen
gnomAD
TCGA novel 110 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1468279043
CA378694187
111 N>H No ClinGen
TOPMed
gnomAD
CA378694190
rs1157980910
111 N>T No ClinGen
TOPMed
rs772994764
CA5741929
114 M>I No ClinGen
ExAC
gnomAD
TCGA novel
CA5741930
rs760460729
115 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
ExAC
gnomAD
rs766026803
CA5741931
116 R>* No ClinGen
ExAC
gnomAD
rs193160639
CA5741932
116 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1443265553
CA378694229
117 S>G No ClinGen
gnomAD
CA5741933
rs759349034
118 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA215381985
rs973298505
118 V>M No ClinGen
TOPMed
rs765245181
CA5741934
119 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA5741936
rs757300109
119 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs765245181
CA5741935
119 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA378694251
rs1330163197
121 M>V No ClinGen
gnomAD
rs750631429
CA5741938
123 Y>C No ClinGen
ExAC
gnomAD
rs1271767610
CA378694282
125 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA5741939
rs771234802
126 I>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 128 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1213815239
CA378694302
128 W>R No ClinGen
gnomAD
CA5741940
rs780941985
129 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs749695334
CA5741941
129 R>Q No ClinGen
ExAC
gnomAD
CA5741942
rs374693322
130 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1233277486
CA378694320
131 Q>* No ClinGen
gnomAD
CA5741943
rs779529803
134 S>P No ClinGen
ExAC
gnomAD
rs75555086
CA215382057
143 K>R No ClinGen
Ensembl
rs748731456
CA5741944
144 E>Q No ClinGen
ExAC
gnomAD
rs576434465
CA5741946
147 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA378694432
rs1565037687
148 K>E No ClinGen
Ensembl
CA378694437
rs1389891826
148 K>N No ClinGen
gnomAD
rs772859229
CA5741947
151 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA5741948
rs746572428
152 K>R No ClinGen
ExAC
gnomAD
rs770644938
CA5741949
153 I>T No ClinGen
ExAC
gnomAD
rs145105617
CA5741950
155 Y>D No ClinGen
1000Genomes
ExAC
gnomAD
rs759356702
CA5741951
156 G>R No ClinGen
ExAC
gnomAD
rs764984706
CA5741952
156 G>V No ClinGen
ExAC
gnomAD
CA215386709
rs34385401
159 I>V No ClinGen
Ensembl
CA215386710
rs902631783
160 L>I No ClinGen
TOPMed
gnomAD
TCGA novel 160 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5741980
rs754076353
161 D>G No ClinGen
ExAC
gnomAD
CA5741982
rs765627154
163 D>E No ClinGen
ExAC
gnomAD
rs201203523
CA5741981
163 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA5741984
rs758923428
165 V>L No ClinGen
ExAC
gnomAD
rs752049755
CA5741986
167 R>G No ClinGen
ExAC
gnomAD
CA378695336
rs1231667593
167 R>T No ClinGen
gnomAD
rs756789676
CA5741987
168 D>N No ClinGen
ExAC
gnomAD
rs1486840733
CA378695351
169 E>D No ClinGen
gnomAD
rs769441289
CA5741990
169 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs745471375
CA5741989
169 E>Q No ClinGen
ExAC
gnomAD
CA5741991
rs779785531
170 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA378695375
rs1468050372
173 I>V No ClinGen
gnomAD
rs895703029
CA215386765
177 E>G No ClinGen
TOPMed
rs1014138360
CA215386772
179 T>A No ClinGen
TOPMed
CA5741994
rs774339613
179 T>I No ClinGen
ExAC
gnomAD
rs770984148
CA5741996
181 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA5741998
rs759788379
183 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA5742000
TCGA novel
rs765575115
183 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
ExAC
TOPMed
gnomAD
rs1367828851
CA378695480
188 H>N No ClinGen
TOPMed
CA5742002
rs764623951
188 H>R No ClinGen
ExAC
gnomAD
rs752097388
CA5742003
189 E>K No ClinGen
ExAC
gnomAD
CA378695495
rs1367951186
190 I>V No ClinGen
gnomAD
CA5742004
rs757722252
196 E>A No ClinGen
ExAC
gnomAD
rs775644781
CA215386815
196 E>K No ClinGen
TOPMed
CA378695535
rs775644781
196 E>Q No ClinGen
TOPMed
CA378695542
rs1318462259
197 E>Q No ClinGen
gnomAD
rs780686971
CA5742005
198 R>M No ClinGen
ExAC
gnomAD
rs779660796
CA5742008
200 Q>R No ClinGen
ExAC
gnomAD
rs749004671
CA5742009
201 E>K No ClinGen
ExAC
gnomAD
rs540730500
CA5742010
201 E>V No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 202 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378695579
rs1176770110
202 E>Q No ClinGen
gnomAD
CA378695586
rs1591580246
203 K>E No ClinGen
Ensembl
rs1030549055
CA215388389
205 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA5742038
rs777538072
205 Q>L No ClinGen
ExAC
gnomAD
rs1331938155
CA378695638
208 N>S No ClinGen
TOPMed
rs747008222
CA5742039
209 I>T No ClinGen
ExAC
gnomAD
rs1413608392
CA378695652
210 D>G No ClinGen
TOPMed
CA5742040
rs769983959
211 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA378695663
rs1174993446
212 N>D No ClinGen
TOPMed
CA378695669
rs1312061447
212 N>K No ClinGen
gnomAD
CA5742041
rs775728846
213 R>K No ClinGen
ExAC
gnomAD
rs749458340
CA5742042
214 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs749458340
CA378695676
214 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA5742043
rs768792329
215 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA378695686
rs768792329
215 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs940598949
CA215388458
216 K>E No ClinGen
TOPMed
CA378695723
rs1414230034
221 P>H No ClinGen
gnomAD
rs564724729
CA5742046
221 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA378695740
rs1280071759
224 A>D No ClinGen
gnomAD
CA378695742
rs1280071759
224 A>V No ClinGen
gnomAD
CA5742048
rs761182932
228 N>K No ClinGen
ExAC
gnomAD
CA378695768
rs1484867367
228 N>S No ClinGen
gnomAD
CA215388488
rs764826742
229 L>F No ClinGen
Ensembl
TCGA novel 231 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 244 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1449699349
CA378695877
244 M>L No ClinGen
gnomAD
CA378695885
rs1172588978
245 S>A No ClinGen
gnomAD
rs752430840
CA5742053
247 Y>D No ClinGen
ExAC
gnomAD
rs758095868
CA5742057
249 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs758120817
CA215388544
249 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs758120817
CA5742056
249 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA378695937
rs1303011286
253 K>R No ClinGen
TOPMed
gnomAD
rs140799120
CA5742060
255 I>F No ClinGen
1000Genomes
ExAC
gnomAD
CA378695990
CA5742080
rs370347429
258 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1468453242
CA378695995
259 Y>C No ClinGen
gnomAD
rs765924730
CA5742081
262 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs748248819
CA5742082
262 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs748248819
CA378696013
262 R>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 262 R>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378696030
rs778059635
265 S>C No ClinGen
ExAC
gnomAD
rs778059635
CA5742084
265 S>G No ClinGen
ExAC
gnomAD
CA5742088
CA378696077
rs777117151
272 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs373741100
CA378696105
276 H>N No ClinGen
ESP
ExAC
gnomAD
CA378696108
rs1420239654
276 H>R No ClinGen
TOPMed
CA5742089
rs373741100
276 H>Y No ClinGen
ESP
ExAC
gnomAD
CA378696117
rs1591591284
277 N>I No ClinGen
Ensembl
TCGA novel 278 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1591591295
CA378696122
278 L>W No ClinGen
Ensembl
CA378696127
rs769129811
279 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA5742090
rs769129811
279 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA378696131
rs1357802190
280 A>T No ClinGen
gnomAD
rs371112922
CA215389851
281 V>M No ClinGen
ESP
gnomAD
rs761618116
CA5742112
284 D>G No ClinGen
ExAC
gnomAD
CA378696214
rs1278248565
284 D>N No ClinGen
TOPMed
rs773087863
CA5742114
286 G>A No ClinGen
ExAC
gnomAD
rs1447893528
CA378696243
286 G>R No ClinGen
gnomAD
TCGA novel 292 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378696329
rs1235056841
292 R>K No ClinGen
TOPMed
CA378696344
rs1405054529
293 E>G No ClinGen
gnomAD
rs187171084
CA215390659
293 E>K No ClinGen
1000Genomes
CA5742116
rs141906544
297 F>S No ClinGen
1000Genomes
ExAC
gnomAD
rs753758508
CA5742117
299 C>G No ClinGen
ExAC
gnomAD
CA215390682
rs906422235
303 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA5742118
rs758467730
303 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA5742121
rs140885933
304 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs374946985
CA5742122
306 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs746267114
CA5742123
306 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
rs756484607
CA5742124
307 M>V No ClinGen
ExAC
CA378696562
rs1363567975
310 R>K No ClinGen
TOPMed
CA378696585
rs1248951294
312 N>D No ClinGen
gnomAD
CA378696592
rs1453982412
312 N>S No ClinGen
gnomAD
CA378696611
rs1467028318
313 N>K No ClinGen
TOPMed
gnomAD
rs200363456
CA5742127
313 N>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1591594258
CA378696659
317 L>P No ClinGen
Ensembl
rs768270400
CA5742128
319 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA378696697
rs1264838643
321 L>M No ClinGen
gnomAD
CA5742131
rs771775279
322 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA5742132
rs772785460
323 R>* No ClinGen
ExAC
gnomAD
rs772785460
CA5742133
323 R>G No ClinGen
ExAC
gnomAD
CA5742134
rs563537294
323 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs776616886
CA5742135
329 V>M No ClinGen
ExAC
gnomAD
TCGA novel 331 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1289100385
CA378696908
332 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1219429703
CA378696920
334 D>N No ClinGen
gnomAD
CA378696929
rs1247536525
335 I>L No ClinGen
TOPMed
rs746697217
CA5742153
335 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA378696946
rs1204972110
337 N>I No ClinGen
gnomAD
CA378696945
rs1204972110
337 N>S No ClinGen
gnomAD
CA5742155
rs556342533
341 D>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1473863313
CA378696998
344 D>E No ClinGen
gnomAD
rs1412472477
CA378697031
348 F>L No ClinGen
gnomAD
rs1421595320
CA378697033
349 I>F No ClinGen
gnomAD
CA378697047
rs1166254775
351 F>V No ClinGen
gnomAD
CA215399335
rs560821920
352 Q>K No ClinGen
Ensembl
rs1350178554
CA378697060
353 P>S No ClinGen
gnomAD
CA378697239
rs1591641610
354 V>G No ClinGen
Ensembl
CA378697233
rs1244790249
354 V>L No ClinGen
gnomAD
CA378697231
rs1244790249
354 V>M No ClinGen
gnomAD
CA378697270
rs1478917155
357 E>* No ClinGen
gnomAD
rs746080157
CA215402324
357 E>D No ClinGen
gnomAD
CA5742198
rs200993205
362 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA215402339
rs367857182
363 T>I No ClinGen
ESP
TOPMed
CA378697378
rs1565062863
365 I>T No ClinGen
Ensembl
rs576201052
CA215402343
369 I>V No ClinGen
gnomAD
rs543157521
CA5742200
370 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1049921083
CA215402359
371 A>D No ClinGen
Ensembl
CA215402352
rs995256286
371 A>T No ClinGen
Ensembl
CA378697469
rs1591641797
374 V>I No ClinGen
Ensembl
rs374940596
CA5742201
375 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1348327633
CA378697525
377 K>N No ClinGen
gnomAD
rs1478307594
CA378697518
377 K>R No ClinGen
TOPMed
CA378697856
rs199995435
381 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA378697861
rs1373096449
382 W>* No ClinGen
TOPMed
CA378697876
rs1306912748
384 T>I No ClinGen
TOPMed
rs749969211
CA5742225
385 L>F No ClinGen
ExAC
gnomAD
rs760275463
CA5742226
387 L>V No ClinGen
ExAC
gnomAD
CA378697899
rs1206994380
388 L>I No ClinGen
gnomAD
CA378697906
rs1252534780
389 P>S No ClinGen
TOPMed
gnomAD
CA5742227
rs765913843
391 D>V No ClinGen
ExAC
rs778778518
CA5742230
392 I>M No ClinGen
ExAC
gnomAD
CA5742229
rs754712267
392 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs753590775
CA5742228
392 I>V No ClinGen
ExAC
gnomAD
CA5742231
rs752509827
396 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA378697952
rs1389761562
396 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA378697959
rs1374460922
397 K>R No ClinGen
TOPMed
rs368944664
CA5742235
400 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1158959302
CA378697999
403 V>M No ClinGen
TOPMed
TCGA novel 405 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 408 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs372560858
CA5742238
408 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs751481585
CA215408902
409 V>L No ClinGen
gnomAD
TCGA novel 411 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5742239
rs774786886
411 R>P No ClinGen
ExAC
TOPMed
rs772592699
CA5742241
413 T>K No ClinGen
ExAC
gnomAD
CA215408937
rs1016113106
415 F>V No ClinGen
gnomAD
CA5742242
rs773745149
416 P>L No ClinGen
ExAC
gnomAD
CA5742269
rs757225154
422 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5742270
rs766333447
424 V>I No ClinGen
ExAC
gnomAD
TCGA novel 427 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1227645266
CA378698176
428 I>T No ClinGen
gnomAD
CA5742271
rs753975651
429 Y>C No ClinGen
ExAC
gnomAD
CA378698179
rs1311909304
429 Y>H No ClinGen
TOPMed
rs779079768
CA5742273
430 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs529958746
CA5742274
431 T>A No ClinGen
1000Genomes
ExAC
gnomAD
CA5742276
rs778112893
431 T>I No ClinGen
ExAC
gnomAD
TCGA novel 431 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs529958746
CA5742275
431 T>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1208440375
CA378698196
432 L>S No ClinGen
TOPMed
gnomAD
rs747473475
CA5742277
434 Q>* No ClinGen
ExAC
gnomAD
CA215418317
rs753729676
434 Q>R No ClinGen
Ensembl
CA378698215
rs1490665080
435 G>E No ClinGen
gnomAD
CA378698213
rs1467671398
435 G>R No ClinGen
TOPMed
CA5742278
rs374932663
436 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378698249
rs1410365816
440 G>R No ClinGen
gnomAD
rs1473310885
CA378698258
441 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA378698267
rs1399975788
442 K>R No ClinGen
TOPMed
CA5742280
rs745351794
445 A>V No ClinGen
ExAC
gnomAD
CA215418337
rs910579337
446 K>N No ClinGen
TOPMed
gnomAD
rs1409161195
CA378698303
448 V>M No ClinGen
gnomAD
CA378698324
rs1288568021
451 T>A No ClinGen
gnomAD
rs551125851
CA5742283
451 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1225590018
CA378698329
452 V>L No ClinGen
gnomAD
CA5742286
rs761609326
455 Y>C No ClinGen
ExAC
gnomAD
TCGA novel 455 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1294429988
CA378698353
456 D>N No ClinGen
TOPMed
gnomAD
rs1204850631
CA378698374
458 D>V No ClinGen
gnomAD
TCGA novel 460 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5742289
rs755068207
461 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765309599
CA5742290
461 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5742291
rs372790668
462 L>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200316381
CA378698421
464 H>D No ClinGen
gnomAD
rs764269961
CA5742310
464 H>L No ClinGen
ExAC
TOPMed
gnomAD
rs200316381
CA215419627
464 H>Y No ClinGen
gnomAD
rs1338767837
CA378698428
465 V>M No ClinGen
gnomAD
TCGA novel 466 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5742311
rs201991461
468 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1434561401
CA378698449
468 P>S No ClinGen
TOPMed
gnomAD
CA378698453
rs1215503619
469 G>R No ClinGen
gnomAD
CA5742314
rs374761788
470 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1360356480
CA378698463
471 G>S No ClinGen
TOPMed
CA5742315
rs756721903
473 E>K No ClinGen
ExAC
gnomAD
CA5742316
rs779665451
474 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA378698499
rs1388879817
476 S>* No ClinGen
TOPMed
TCGA novel 478 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1564741478
CA378698519
479 K>E No ClinGen
Ensembl
CA5742321
rs771828391
479 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA5742322
rs771828391
479 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs1190403810
CA378698532
481 V>M No ClinGen
TOPMed
gnomAD
rs760609272
CA5742323
482 I>V No ClinGen
ExAC
gnomAD
rs1481344953
CA378698567
486 V>L No ClinGen
gnomAD
rs373413868
CA5742324
489 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373413868
CA378698589
489 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378698594
rs1456939677
490 R>C No ClinGen
TOPMed
gnomAD
rs776589124
CA378698596
490 R>H No ClinGen
ExAC
gnomAD
CA5742325
rs776589124
490 R>L No ClinGen
ExAC
gnomAD
rs763016476
CA5742327
495 V>F No ClinGen
ExAC
gnomAD
rs907467357
CA215419694
496 K>E No ClinGen
TOPMed
CA5742328
rs544408185
496 K>T No ClinGen
1000Genomes
ExAC
gnomAD
CA378698825
rs1179750735
497 V>M No ClinGen
gnomAD
rs868221807
CA215421438
498 A>D No ClinGen
TOPMed
CA378698831
rs1470645685
498 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs868221807
CA215421439
498 A>V No ClinGen
TOPMed
CA378698854
rs1162617739
500 P>S No ClinGen
TOPMed
CA378698865
rs1427018541
501 I>F No ClinGen
gnomAD
rs1370503320
CA378698875
502 E>K No ClinGen
gnomAD
rs768714380
CA5742347
504 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs762048054
CA5742349
506 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA5742350
rs150790785
506 R>H Variant assessed as Somatic; 0.0003247 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs150790785
CA378698942
506 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA215421489
rs762048054
506 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1384540848
CA378698949
507 S>C No ClinGen
gnomAD
CA5742351
rs773525849
507 S>T No ClinGen
ExAC
gnomAD
rs1340008027
CA378698996
510 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA378698992
rs1273560968
510 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA378699000
rs1273598919
511 F>L No ClinGen
gnomAD
CA5742353
rs200582355
512 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201574191
CA5742354
514 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754326476
CA215421550
514 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754326476
CA5742355
514 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1392368693
CA378699048
515 H>Y No ClinGen
TOPMed
TCGA novel 519 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA215426618
rs920079674
522 K>R No ClinGen
gnomAD
CA378700526
rs1178355665
523 D>N No ClinGen
TOPMed
TCGA novel 523 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs931618115
CA215426622
524 K>R No ClinGen
Ensembl
CA378700557
rs1224167905
525 S>T No ClinGen
gnomAD
rs1260433091
CA378700606
528 I>T No ClinGen
TOPMed
gnomAD
CA5742378
rs765628505
533 F>C No ClinGen
ExAC
gnomAD
CA5742379
rs753313500
537 M>I No ClinGen
ExAC
gnomAD
rs1208161011
CA378700744
539 Y>C No ClinGen
TOPMed
rs1490335008
CA378700753
540 D>N No ClinGen
TOPMed
gnomAD
CA378700845
rs1591745470
546 D>G No ClinGen
Ensembl
CA5742386
rs755980419
547 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1057180572
CA215426699
550 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA5742389
rs771991452
552 I>T No ClinGen
ExAC
gnomAD
rs535572784
CA5742391
553 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5742393
rs373756074
554 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373756074
CA5742392
554 Y>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 555 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378701035
rs1242213957
556 A>T No ClinGen
gnomAD
CA378701051
rs1185208689
557 E>K No ClinGen
gnomAD
CA5742419
rs761310036
558 A>G No ClinGen
ExAC
gnomAD
CA378701173
rs1591747447
563 D>V No ClinGen
Ensembl
rs1591747467
CA378701200
564 A>V No ClinGen
Ensembl
rs1356201975
CA378701211
565 A>S No ClinGen
TOPMed
gnomAD
CA378701203
rs1356201975
565 A>T No ClinGen
TOPMed
gnomAD
CA5742423
rs766035033
566 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs746067129
CA215427286
568 L>F No ClinGen
Ensembl
rs1253401024
CA378701285
569 S>I No ClinGen
TOPMed
rs1403065120
CA378701278
569 S>R No ClinGen
gnomAD
rs754857756
CA5742425
571 P>L No ClinGen
ExAC
gnomAD
rs1384057049
CA378701353
573 T>A No ClinGen
gnomAD
CA5742427
rs372005171
573 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 576 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1463359784
CA378701472
579 E>A No ClinGen
TOPMed
gnomAD
CA378701464
rs1309768528
579 E>K No ClinGen
gnomAD
rs1204626691
CA378701507
581 G>V No ClinGen
gnomAD
CA5742429
rs781425786
582 H>R No ClinGen
ExAC
gnomAD
CA5742430
rs368083273
583 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754821075
CA215427374
583 S>T No ClinGen
TOPMed
gnomAD
rs756381755
CA5742431
584 A>D No ClinGen
ExAC
gnomAD
rs1306167561
CA378701570
586 G>A No ClinGen
TOPMed
CA378701564
rs749635446
586 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs749635446
CA5742433
586 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA378701626
rs769077651
CA5742434
589 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA378701620
rs1428623506
589 M>T No ClinGen
gnomAD
CA378701614
rs1171513306
589 M>V No ClinGen
gnomAD
rs1332274941
CA378701633
590 Q>* No ClinGen
TOPMed
CA378701688
rs1436539401
592 L>P No ClinGen
gnomAD
CA378701700
rs1338989712
593 G>E No ClinGen
gnomAD
CA378701710
rs1407109652
594 S>N No ClinGen
gnomAD
rs748671173
CA5742436
595 C>F No ClinGen
ExAC
gnomAD
rs774829252
CA5742435
595 C>G No ClinGen
ExAC
TOPMed
gnomAD
rs774829252
CA378701718
595 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs748671173
CA378701724
595 C>Y No ClinGen
ExAC
gnomAD
rs1591747990
CA378701739
596 T>I No ClinGen
Ensembl
CA5742439
rs760148261
597 I>T No ClinGen
ExAC
gnomAD
rs375864195
CA5742438
597 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378701761
rs1465498890
598 S>G No ClinGen
TOPMed
CA215427433
rs540708875
598 S>T No ClinGen
Ensembl
rs1591748093
CA378701822
601 S>F No ClinGen
Ensembl
CA5742441
rs776210962
604 I>F No ClinGen
ExAC
gnomAD
CA215427467
rs566255432
605 S>F No ClinGen
TOPMed
gnomAD
CA5742443
rs765135339
605 S>P No ClinGen
ExAC
gnomAD
CA378701876
rs566255432
605 S>Y No ClinGen
TOPMed
gnomAD
CA5742444
rs752613726
606 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 607 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5742447
rs750494984
608 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1426153607
CA378701924
609 C>W No ClinGen
gnomAD
CA215427485
rs924154879
612 K>R No ClinGen
TOPMed
gnomAD
CA215427490
rs868796008
615 Q>K No ClinGen
Ensembl
rs1347271770
CA378702023
617 V>M No ClinGen
gnomAD
rs372475096
CA5742465
622 L>F No ClinGen
ESP
ExAC
gnomAD
CA378702895
rs1357885669
622 L>P No ClinGen
TOPMed
gnomAD
CA378702922
rs1407424333
626 R>C No ClinGen
TOPMed
CA5742467
rs753998108
626 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs755211550
CA5742468
627 S>F No ClinGen
ExAC
gnomAD
CA5742469
rs566128248
628 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA378702938
rs1591768418
629 T>P No ClinGen
Ensembl
rs959880312
CA215432610
630 S>T No ClinGen
TOPMed
CA5742470
rs753042267
634 Q>* No ClinGen
ExAC
gnomAD
CA378703003
rs1451414779
638 Q>R No ClinGen
gnomAD
rs540128098
CA378703025
CA378703026
641 K>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs747478024
CA5742473
641 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA378703027
rs1337297926
642 V>I No ClinGen
gnomAD
rs745478937
CA5742477
643 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5742478
rs769540835
644 G>D No ClinGen
ExAC
gnomAD
TCGA novel 644 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378703067
rs1304946826
648 V>L No ClinGen
TOPMed
CA378703366
rs1466192762
650 F>Y No ClinGen
gnomAD
CA378703461
rs1382571749
657 A>V No ClinGen
gnomAD
rs748075720
CA5742511
659 F>L No ClinGen
ExAC
gnomAD
rs758242756
CA215436549
660 N>S No ClinGen
TOPMed
rs771868772
CA5742513
663 M>K No ClinGen
ExAC
rs773196502
CA5742514
665 N>H No ClinGen
ExAC
TOPMed
gnomAD
rs773196502
CA378703543
665 N>Y No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 667 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378703584
rs1343423456
668 S>N No ClinGen
TOPMed
rs759611299
CA5742516
669 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs765309183
CA5742517
672 D>E No ClinGen
ExAC
gnomAD
rs775635038
CA5742518
673 T>M No ClinGen
ExAC
gnomAD
rs1314185345
CA378703646
673 T>P No ClinGen
gnomAD
CA378703700
rs1219227153
677 D>G No ClinGen
TOPMed
gnomAD
rs1219227153
CA378703701
677 D>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1287441421
CA378703706
678 A>P No ClinGen
gnomAD
CA378703707
rs1287441421
678 A>S No ClinGen
gnomAD
TCGA novel 680 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA215436903
rs968353366
682 I>T No ClinGen
TOPMed
gnomAD
rs775579849
CA5742535
682 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA5742537
rs764200154
684 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1384335317
CA378703823
685 L>M No ClinGen
gnomAD
rs774692785
CA5742538
686 I>T No ClinGen
ExAC
gnomAD
TCGA novel 691 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1350380468
CA378703918
693 H>Y No ClinGen
gnomAD
CA5742540
rs767998082
700 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA5742541
rs750900337
702 I>V No ClinGen
ExAC
gnomAD
TCGA novel 706 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378704031
rs1382568334
708 A>V No ClinGen
gnomAD
CA5742544
rs753252079
709 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs778430296
CA5742546
710 L>F No ClinGen
ExAC
gnomAD
rs1226075729
CA378704045
711 A>S No ClinGen
gnomAD
TCGA novel 711 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378704062
rs1249062472
713 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA215443296
rs933090160
717 K>E No ClinGen
TOPMed
CA5742564
rs534778303
717 K>N No ClinGen
1000Genomes
ExAC
gnomAD
CA5742563
rs754439781
717 K>T No ClinGen
ExAC
gnomAD
TCGA novel 718 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378704699
rs1470106864
720 K>R No ClinGen
TOPMed
CA378704721
rs1380330832
721 N>K No ClinGen
TOPMed
CA5742567
rs758080614
725 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA5742566
rs752245963
725 G>S No ClinGen
ExAC
gnomAD
CA5742569
rs751334535
726 A>G No ClinGen
ExAC
gnomAD
rs777443663
CA5742568
726 A>T No ClinGen
ExAC
gnomAD
rs1171394109
CA378704795
728 K>R No ClinGen
gnomAD
CA5742570
rs757101826
729 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1202352194
CA378704802
729 P>T No ClinGen
gnomAD
CA5742571
rs780986950
732 N>T No ClinGen
ExAC
gnomAD
rs932040229
CA215443352
733 E>D No ClinGen
Ensembl
rs372221636
CA5742573
733 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs745821655
CA5742572
733 E>K No ClinGen
ExAC
gnomAD
rs372221636
CA5742574
733 E>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5742575
rs199584647
738 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5742577
rs773612844
739 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs772389830
CA5742576
739 M>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 740 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378704902
rs765597446
741 A>E No ClinGen
gnomAD
CA215443368
rs765597446
741 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA5742580
rs776949839
745 I>V No ClinGen
ExAC
gnomAD
CA378704933
rs1213382070
746 F>C No ClinGen
gnomAD
CA5742581
rs760112759
746 F>V No ClinGen
ExAC
rs1288084617
CA378704939
747 K>T No ClinGen
gnomAD
CA378704951
rs1488543680
748 F>L No ClinGen
gnomAD
CA5742582
rs558883419
749 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs902914475
CA378704959
750 V>L No ClinGen
TOPMed
gnomAD
rs902914475
CA215443399
750 V>M No ClinGen
TOPMed
gnomAD
CA215443404
rs999910753
751 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 752 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752173506
CA5742583
754 I>N No ClinGen
ExAC
gnomAD
CA378705000
rs1363016393
757 N>H No ClinGen
gnomAD
rs200247221
CA5742587
757 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 758 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 758 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1303046238
CA378705011
758 Q>R No ClinGen
gnomAD
TCGA novel 762 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378694859
rs1458547725
765 E>K No ClinGen
gnomAD
rs1367250635
CA378694874
767 D>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1367250635
CA378694873
767 D>N No ClinGen
TOPMed
gnomAD
CA5742607
rs565353780
769 V>L No ClinGen
1000Genomes
ExAC
gnomAD
rs565353780
CA5742606
769 V>M No ClinGen
1000Genomes
ExAC
gnomAD
rs753889992
CA378694898
770 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA5742608
rs376380186
770 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373010349
CA5742610
776 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378694934
rs1400567493
776 F>S No ClinGen
gnomAD
rs778026459
CA5742611
777 R>G No ClinGen
ExAC
gnomAD
rs377325661
CA5742613
780 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370953579
CA5742614
780 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1317440231
CA378694973
782 M>V No ClinGen
TOPMed
gnomAD
CA378695012
rs1260244336
786 M>I No ClinGen
gnomAD
CA378695008
rs1216873725
786 M>L No ClinGen
gnomAD
CA378695007
rs1216873725
786 M>V No ClinGen
gnomAD
CA5742616
rs374649102
787 S>P No ClinGen
ESP
ExAC
gnomAD
CA378695029
rs1203458725
789 Q>E No ClinGen
gnomAD
rs933649201
CA215393295
789 Q>H No ClinGen
TOPMed
gnomAD
CA378695032
rs1254462018
789 Q>R No ClinGen
gnomAD
rs1188908215
CA378695040
790 T>S No ClinGen
gnomAD
rs749808299
CA5742618
791 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA378695047
rs1423910041
792 R>Q No ClinGen
TOPMed
gnomAD
CA5742619
rs768105994
792 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1170622824
CA378695060
794 K>R No ClinGen
gnomAD
rs201249300
CA5742639
CA378700003
795 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371126639
CA5742640
796 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5742641
rs771545500
797 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA5742643
rs375666837
800 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1384528233
CA378700122
802 P>L No ClinGen
gnomAD
CA378700114
rs1159242265
802 P>T No ClinGen
TOPMed
gnomAD
rs199851857
CA5742644
803 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5742645
rs373968953
803 T>M Variant assessed as Somatic; 4.996e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201701102
CA215425068
805 V>I No ClinGen
TOPMed
gnomAD
rs1310640476
CA378700181
806 N>S No ClinGen
gnomAD
rs924140488
CA215425073
806 N>Y No ClinGen
Ensembl
rs767508399
CA5742650
807 D>H No ClinGen
ExAC
gnomAD
CA378700210
rs1266655656
808 V>M No ClinGen
gnomAD
TCGA novel 811 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750609368
CA5742651
812 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA215425081
rs935399816
813 D>G No ClinGen
Ensembl
rs756360164
CA5742652
813 D>H No ClinGen
ExAC
gnomAD
TCGA novel 813 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1241224348
CA378700334
815 K>R No ClinGen
TOPMed
CA378700359
rs1255402162
816 E>D No ClinGen
gnomAD
rs1338820027
CA378700343
816 E>K No ClinGen
TOPMed
CA378700364
rs1421935688
817 L>V No ClinGen
TOPMed
gnomAD
CA378702224
rs1310276141
820 M>T No ClinGen
gnomAD
rs184254832
CA5742678
820 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs756894483
CA5742679
821 F>C No ClinGen
ExAC
gnomAD
rs2379163
CA215427712
821 F>I No ClinGen
Ensembl
rs1461914120
CA378702250
821 F>L No ClinGen
TOPMed
rs921062915
CA215427722
822 T>S No ClinGen
Ensembl
rs780925155
CA5742681
825 I>T No ClinGen
ExAC
gnomAD
CA5742682
rs61758436
827 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1187388499
CA378702362
829 P>S No ClinGen
gnomAD
CA215427782
rs912296017
830 M>L No ClinGen
TOPMed
gnomAD
rs749146009
CA5742685
830 M>T No ClinGen
ExAC
gnomAD
rs565727397
CA378702505
835 I>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1311332438
CA378702496
835 I>S No ClinGen
TOPMed
rs760735470
CA5742688
835 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA5742690
rs776773235
836 Q>R No ClinGen
ExAC
gnomAD
CA5742691
rs759788937
837 K>T No ClinGen
ExAC
gnomAD
rs1220764621
CA378702558
838 L>F No ClinGen
gnomAD
TCGA novel 840 C>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765539210
CA5742692
840 C>S No ClinGen
ExAC
gnomAD
CA5742694
rs752986153
842 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs764504730
CA5742695
843 E>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA5742697
rs369209061
845 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780873777
CA5742698
846 H>R No ClinGen
ExAC
gnomAD
rs769284782
CA215427854
850 F>L No ClinGen
Ensembl
CA5742700
rs755690198
852 Q>L No ClinGen
ExAC
gnomAD
CA378702824
rs755690198
852 Q>R No ClinGen
ExAC
gnomAD
rs376145835 853 H>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs140948917
CA5742701
853 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs376519025
CA5742721
854 D>V No ClinGen
ESP
ExAC
gnomAD
CA5742722
rs747980358
855 C>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 857 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 858 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1480875553
CA378694541
858 I>V No ClinGen
TOPMed
CA378694554
rs1377138637
860 L>F No ClinGen
gnomAD
CA378694557
rs1592122602
860 L>R No ClinGen
Ensembl
CA5742723
rs771978308
861 P>L No ClinGen
ExAC
gnomAD
TCGA novel 862 M>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745935203
CA5742725
862 M>V No ClinGen
ExAC
gnomAD
CA378694583
rs61733299
864 T>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs61733299
CA5742726
864 T>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs763260338
CA5742728
865 D>H No ClinGen
ExAC
gnomAD
CA215419404
rs367890029
865 D>V No ClinGen
ESP
CA378694585
rs763260338
865 D>Y No ClinGen
ExAC
gnomAD
CA378694609
rs1473496748
868 K>R No ClinGen
gnomAD
rs562575974
CA215419430
874 Q>P No ClinGen
1000Genomes
rs751037501
CA5742733
875 E>K No ClinGen
ExAC
gnomAD
rs988131523
CA215419440
876 D>N No ClinGen
gnomAD
CA378694672
rs1413687539
877 L>Q No ClinGen
gnomAD
rs780385884
CA5742734
881 C>S No ClinGen
ExAC
gnomAD
rs765922744
CA378694730
885 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs1416712859
CA378694731
886 H>N No ClinGen
gnomAD
CA5742737
rs753380712
887 I>M No ClinGen
ExAC
rs747520696
CA5742740
893 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA5742741
rs769237090
893 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA215419505
rs575962615
896 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs575962615
CA5742743
896 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs540787166
CA5742763
897 G>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5742764
rs370003810
899 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370003810
CA378695087
899 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1417956801
CA378695110
902 H>R No ClinGen
gnomAD
rs1161613892
CA378695108
902 H>Y No ClinGen
TOPMed
rs201486952
CA5742766
903 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs755175575
CA5742767
904 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs779210116
CA5742768
905 I>M No ClinGen
ExAC
gnomAD
CA5742769
rs748390399
906 I>V No ClinGen
ExAC
gnomAD
CA5742771
rs773654503
907 M>I No ClinGen
ExAC
gnomAD
rs199604643
CA5742770
907 M>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA378695188
rs1193178625
909 K>N No ClinGen
TOPMed
rs1288540444
CA378695190
910 L>I No ClinGen
TOPMed
rs1352072213
CA378695198
911 L>F No ClinGen
gnomAD
rs1352072213
CA378695196
911 L>I No ClinGen
gnomAD
CA378695203
rs1260759936
912 R>Q No ClinGen
gnomAD
CA5742772
rs747371637
912 R>W No ClinGen
ExAC
gnomAD
CA378695206
rs1220944266
913 T>S No ClinGen
TOPMed
rs777074727
CA5742774
914 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA5742775
rs564483519
916 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5742777
rs200822411
918 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5742779
rs763777130
CA378695259
921 M>I No ClinGen
ExAC
gnomAD
rs751349226
CA5742780
922 G>R No ClinGen
ExAC
gnomAD
rs1364506709
CA378695267
923 R>* No ClinGen
gnomAD
CA5742782
rs376227113
925 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 927 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750331091
CA5742783
928 I>T No ClinGen
ExAC
gnomAD
TCGA novel 929 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 929 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA215468613
rs908098532
930 N>Y No ClinGen
Ensembl
CA5743246
rs772236426
931 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA5743248
rs761014552
932 V>L No ClinGen
ExAC
gnomAD
rs76861764
CA5743250
934 C>F No ClinGen
ExAC
gnomAD
rs759069075
CA5743252
935 M>I No ClinGen
ExAC
gnomAD
CA378704312
rs1228123616
935 M>V No ClinGen
gnomAD
TCGA novel 936 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1249580664
CA378704325
937 A>T No ClinGen
TOPMed
rs552636749
CA5743254
938 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5743255
rs758055664
940 R>* No ClinGen
ExAC
gnomAD
rs571040090
CA378704346
940 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs571040090
CA5743256
940 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1192580730
CA378704353
941 Q>H No ClinGen
TOPMed
gnomAD
rs757013446
CA5743258
943 E>D No ClinGen
ExAC
rs538234861
CA5743257
943 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs781055542
CA5743259
947 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA5743260
rs745832837
948 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA378704406
rs1413875006
948 A>V No ClinGen
gnomAD
rs1163988403
CA378704419
950 L>F No ClinGen
gnomAD
rs756081289
CA5743261
950 L>V No ClinGen
ExAC
gnomAD
rs1379341893
CA378704422
951 I>V No ClinGen
Ensembl
CA5743262
rs778946818
952 K>R No ClinGen
ExAC
gnomAD
CA5743263
rs748238377
953 T>I No ClinGen
ExAC
gnomAD
CA378704451
rs1383037723
955 G>E No ClinGen
gnomAD
rs1305219249
CA378704449
955 G>R No ClinGen
gnomAD
CA215468750
rs916062123
958 R>T No ClinGen
TOPMed
gnomAD
rs772337291
CA5743264
959 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs773312920
CA5743266
959 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA5743265
rs773312920
959 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs772337291
CA215468784
959 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA378704481
rs1173349146
960 D>Y No ClinGen
TOPMed
CA5743268
rs777238665
961 V>M No ClinGen
ExAC
gnomAD
rs760088702
CA5743269
962 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs760088702
CA5743270
962 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA5743286
rs781679502
963 D>E No ClinGen
ExAC
gnomAD
CA5743285
rs771319631
963 D>Y No ClinGen
ExAC
gnomAD
CA378904024
rs1333982113
967 E>K No ClinGen
gnomAD
CA5743288
rs770357047
968 T>A No ClinGen
ExAC
gnomAD
CA215762781
rs1009239241
969 F>L No ClinGen
TOPMed
TCGA novel 970 I>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378904055
rs1337890337
971 M>T No ClinGen
gnomAD
CA5743290
rs762473066
973 K>E No ClinGen
ExAC
gnomAD
CA5743291
rs762473066
973 K>Q No ClinGen
ExAC
gnomAD
CA5743292
rs773948788
978 K>Q No ClinGen
ExAC
gnomAD
CA215762783
rs922456430
980 V>I No ClinGen
TOPMed
gnomAD
CA378904125
rs1313661034
981 Y>C No ClinGen
gnomAD
rs1247285295
CA378904143
984 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1247285295
CA378904145
984 D>Y No ClinGen
gnomAD
rs750218824
CA5743296
986 V>M No ClinGen
ExAC
gnomAD
CA378904171
rs1243900750
987 I>M No ClinGen
gnomAD
rs777306228
CA215762784
988 M>V No ClinGen
Ensembl
CA378904195
rs1475899705
990 M>I No ClinGen
gnomAD
rs933784636
CA215762785
990 M>V No ClinGen
Ensembl
CA5743297
rs760469931
992 Q>R No ClinGen
ExAC
gnomAD
rs1052142234
CA215762786
994 K>Q No ClinGen
Ensembl
rs1405156269
CA378904906
995 V>A No ClinGen
gnomAD
rs1367093758
CA378904903
995 V>I No ClinGen
gnomAD
rs1398707029
CA378904924
998 R>Q No ClinGen
TOPMed
rs1348391916
CA378904927
999 A>T No ClinGen
gnomAD
rs1241104323
CA378904934
1000 I>V No ClinGen
gnomAD
CA5743310
rs773717326
1001 N>K No ClinGen
ExAC
gnomAD
CA378904951
rs1300280923
1002 Q>R No ClinGen
gnomAD
CA378904970
rs556752202
1005 D>H No ClinGen
1000Genomes
TOPMed
gnomAD
CA215772802
rs556752202
1005 D>Y No ClinGen
1000Genomes
TOPMed
gnomAD
CA378904979
rs1023316151
1006 M>R No ClinGen
TOPMed
gnomAD
CA215772803
rs1023316151
1006 M>T No ClinGen
TOPMed
gnomAD
CA378904977
rs1466606676
1006 M>V No ClinGen
TOPMed
rs1209277586
CA378904998
1009 K>Q No ClinGen
gnomAD
rs1289652913
CA378905002
1009 K>R No ClinGen
gnomAD
rs1223491742
CA378905046
1015 A>V No ClinGen
gnomAD
CA378905079
rs1471782044
1020 Q>E No ClinGen
gnomAD
rs747728321
CA5743311
1020 Q>R No ClinGen
ExAC
gnomAD
CA215773374
rs751082778
1024 N>S No ClinGen
Ensembl
rs750702181
CA5743322
1025 Y>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1029 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1338552598
CA378905168
1031 A>T No ClinGen
gnomAD
CA215773375
rs754620266
1032 F>S No ClinGen
Ensembl
rs368330561
CA5743325
1034 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378905193
rs1306029906
1035 Q>E No ClinGen
gnomAD
CA378905212
rs1229870963
1037 S>F No ClinGen
gnomAD
rs1344672799
CA378905228
1040 L>V No ClinGen
gnomAD
CA5743328
rs747602279
1045 S>G No ClinGen
ExAC
gnomAD
CA5743329
rs771596017
1045 S>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1048 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772813516
CA378905285
1048 R>I No ClinGen
ExAC
gnomAD
rs772813516
CA5743330
1048 R>K No ClinGen
ExAC
gnomAD
TCGA novel 1055 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5743351
rs571598696
1056 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs769660658
CA5743353
1058 M>I No ClinGen
ExAC
gnomAD
rs369729371
CA5743352
1058 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1228329689
CA378906507
1059 R>M No ClinGen
TOPMed
gnomAD
rs955714301
CA215774786
1062 I>T No ClinGen
Ensembl
CA5743354
rs775462971
1063 G>V No ClinGen
ExAC
gnomAD
CA215774787
rs987430227
1067 R>G No ClinGen
TOPMed
CA5743355
rs762958999
1069 M>L No ClinGen
ExAC
gnomAD
CA5743356
rs768768253
1069 M>T No ClinGen
ExAC
gnomAD
CA378906674
rs1310971854
1071 Y>N No ClinGen
TOPMed
rs538891858
CA215774788
1073 L>V No ClinGen
1000Genomes
CA378907945
rs1356634716
1076 H>D No ClinGen
gnomAD
CA378907973
rs760626662
1077 K>N No ClinGen
ExAC
gnomAD
rs771076238
CA5743379
1078 I>V No ClinGen
ExAC
gnomAD
rs1052198907
CA215775752
1081 I>V No ClinGen
TOPMed
gnomAD
TCGA novel 1082 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759783494
CA5743381
1085 V>A No ClinGen
ExAC
gnomAD
rs776618144
CA5743380
1085 V>L No ClinGen
ExAC
gnomAD
CA378908080
rs1212431084
1086 G>V No ClinGen
gnomAD
CA5743383
rs376332631
1087 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378908105
rs1427462174
1088 I>M No ClinGen
TOPMed
gnomAD
CA378908190
rs1185551682
1095 P>A No ClinGen
gnomAD
CA215775753
rs547210300
1096 E>K No ClinGen
1000Genomes
ExAC
gnomAD
CA5743388
rs547210300
1096 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA215775754
rs371052769
1097 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5743389
rs371052769
1097 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769248529
CA5743391
1100 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs543711382
CA5743392
1100 R>H No ClinGen
ExAC
gnomAD
rs778956657
CA5743394
1102 A>V No ClinGen
ExAC
gnomAD
rs1045658598
CA215775755
1105 P>L No ClinGen
TOPMed
rs559057300
CA5743396
1106 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 1109 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5743398
rs746002233
1110 M>I No ClinGen
ExAC
gnomAD
CA5743397
rs376214107
1110 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378908352
rs769937903
CA5743399
1111 M>I No ClinGen
ExAC
gnomAD
CA378908350
rs1483945911
1111 M>T No ClinGen
TOPMed
CA5743400
rs775710859
1114 E>D No ClinGen
ExAC
gnomAD
CA215775756
rs772802705
1117 S>L No ClinGen
Ensembl
rs538272737
CA5743403
1119 R>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA378908404
rs538272737
1119 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs762364778
CA5743404
1119 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1446442282
CA378908419
1121 F>S No ClinGen
gnomAD
CA5743407
rs755695055
1123 M>T No ClinGen
ExAC
gnomAD
CA5743406
rs749876956
1123 M>V No ClinGen
ExAC
gnomAD
rs754665616
CA5743427
1126 N>K No ClinGen
ExAC
rs764865801
CA5743428
1127 E>D No ClinGen
ExAC
gnomAD
rs1159849946
CA378908479
1127 E>G No ClinGen
gnomAD
CA5743429
rs372035320
1128 I>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758143089
CA5743430
1129 I>V No ClinGen
ExAC
gnomAD
CA5743431
rs777724701
1131 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA378908521
rs1333959983
1134 H>Y No ClinGen
gnomAD
CA378908535
rs1241085681
1135 E>D No ClinGen
gnomAD
CA378908546
rs1354421706
1137 E>G No ClinGen
gnomAD
rs780093667
CA5743434
1139 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs768795514
CA5743436
1143 E>* No ClinGen
ExAC
TOPMed
CA378908585
rs1286713522
1143 E>G No ClinGen
TOPMed
rs768795514
CA378908584
1143 E>K No ClinGen
ExAC
TOPMed
rs779014762
CA5743437
1144 Q>R No ClinGen
ExAC
gnomAD
rs748493017
CA5743438
1147 V>M No ClinGen
ExAC
gnomAD
TCGA novel 1150 D>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378908633
rs1319470770
1150 D>N No ClinGen
TOPMed
rs1565037121
CA378908670
1153 L>F No ClinGen
Ensembl
TCGA novel 1154 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378908682
rs1424098787
1155 E>A No ClinGen
gnomAD
rs772390566
CA5743461
1156 H>R No ClinGen
ExAC
gnomAD
rs778273756
CA5743462
1157 C>G No ClinGen
ExAC
TOPMed
gnomAD
rs373366495
CA5743463
1157 C>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5743465
rs777293748
1159 K>E No ClinGen
ExAC
gnomAD
CA5743466
rs759069214
1160 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs769154273
CA5743467
1161 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs762500269
CA378908735
1162 Y>* No ClinGen
ExAC
gnomAD
rs1295063969
CA378908733
1162 Y>C No ClinGen
gnomAD
rs751285414
CA5743471
1164 A>T No ClinGen
ExAC
gnomAD
CA5743472
rs761606041
1166 T>I No ClinGen
ExAC
gnomAD
TCGA novel 1167 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1035423763
CA215777189
1168 E>G No ClinGen
Ensembl
rs750388676
CA5743474
1168 E>K No ClinGen
ExAC
gnomAD
rs1204213099
CA378908782
1170 F>S No ClinGen
gnomAD
CA215777190
rs758548443
1174 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA5743478
rs758548443
1174 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1565037300 1175 V>missing Variant assessed as Somatic; 4.648e-05 impact. [NCI-TCGA] No NCI-TCGA
rs778147174
CA5743479
1176 R>C No ClinGen
ExAC
gnomAD
CA5743480
rs138926927
1176 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5743481
rs138926927
1176 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA378908821
rs1479416720
1177 L>S No ClinGen
TOPMed
gnomAD
CA378908831
rs1178427950
1178 M>T No ClinGen
gnomAD
CA215777191
rs1026633461
1179 E>D No ClinGen
gnomAD
CA5743488
rs768132044
1195 N>H No ClinGen
ExAC
gnomAD
rs761553028
CA5743490
1196 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA5743491
rs574978022
1196 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA215777192
rs952439430
1201 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA378909006
rs1486678915
1202 N>S No ClinGen
gnomAD
rs1216796366
CA378909010
1203 V>M No ClinGen
gnomAD
rs1457952619
CA378909020
1204 L>P No ClinGen
TOPMed
CA215777896
rs768874978
1211 E>G No ClinGen
Ensembl
rs1392282691
CA378909081
1211 E>K No ClinGen
gnomAD
CA5743504
rs780621285
1213 E>Q No ClinGen
ExAC
gnomAD
rs968604499
CA215777897
1214 E>K No ClinGen
Ensembl
CA378909110
rs1590794584
1215 M>V No ClinGen
Ensembl
CA5743505
rs748694096
1217 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA378909155
rs1290336805
1219 Y>C No ClinGen
gnomAD
CA378909170
rs1355201550
1221 Y>C No ClinGen
gnomAD
rs1350780731
CA378909182
1223 L>F No ClinGen
TOPMed
rs1306649331
CA378909192
1224 C>S No ClinGen
TOPMed
gnomAD
rs1408753376
CA378909201
1225 D>G No ClinGen
TOPMed
CA5743519
rs61758437
1231 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA215777998
rs200279056
1236 A>V No ClinGen
gnomAD
rs1248295074
CA378909315
1241 L>R No ClinGen
TOPMed
rs1428247782
CA378909317
1242 L>F No ClinGen
gnomAD
CA378909326
rs1403147569
1243 H>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA5743525
rs778383052
1246 L>F No ClinGen
ExAC
gnomAD
rs370406091
CA5743526
1248 K>E No ClinGen
ESP
ExAC
gnomAD
rs1202144671
CA378909358
1248 K>R No ClinGen
TOPMed
rs1299687177
CA378697163
1249 W>R No ClinGen
TOPMed
rs1055960911
CA215434374
1250 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA5743553
rs772155501
1252 D>E No ClinGen
ExAC
gnomAD
CA378697264
rs1488794823
1254 C>Y No ClinGen
TOPMed
gnomAD
CA5743554
rs773211951
1255 V>M No ClinGen
ExAC
gnomAD
TCGA novel 1256 A>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1257 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1260 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766579453
CA5743556
1260 Q>R No ClinGen
ExAC
gnomAD
CA378697355
rs375009537
1261 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765684085
CA5743559
1261 R>Q Variant assessed as Somatic; 4.675e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs375009537
CA5743558
1261 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs183890235
CA378697376
1262 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5743560
rs753234622
1262 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs751096233
CA5743563
1263 G>E No ClinGen
ExAC
gnomAD
CA5743562
rs188270898
1263 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs553671666
CA378697430
1266 A>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5743564
rs553671666
1266 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA215434471
rs994557124
1268 T>M No ClinGen
TOPMed
gnomAD
rs780721120
CA5743565
1270 G>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1274 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378697565
rs1457579230
1275 Q>H No ClinGen
gnomAD
rs1200189195
CA378697582
1277 Y>C No ClinGen
gnomAD
CA5743567
rs756000164
1278 Q>E No ClinGen
ExAC
gnomAD
CA215434498
rs780031433
1278 Q>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1279 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1280 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378697645
rs1380553869
1282 H>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1276490876
CA378697664
1283 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1423545706
CA378697657
1283 Y>H No ClinGen
gnomAD
CA378697693
rs1392611088
1285 D>N No ClinGen
TOPMed
gnomAD
rs1405941293
CA378697734
1288 K>E No ClinGen
gnomAD
CA5743615
rs749625059
1289 M>L No ClinGen
ExAC
gnomAD
CA378701089
rs1590910412
1291 E>D No ClinGen
Ensembl
CA5743616
rs768871901
1291 E>V No ClinGen
ExAC
gnomAD
rs903019098
CA215445127
1293 A>S No ClinGen
TOPMed
TCGA novel 1295 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772769660
CA5743619
1296 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA5743618
rs762210154
1296 L>W No ClinGen
ExAC
TOPMed
gnomAD
CA378701249
rs1300667749
1298 K>R No ClinGen
gnomAD
CA5743621
rs760276699
1301 A>T No ClinGen
ExAC
gnomAD
rs1378722148
CA378701339
1301 A>V No ClinGen
gnomAD
rs759277250
CA5743625
1302 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs753464561
CA5743623
1302 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 1304 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1456888349
CA378701399
1304 Y>N No ClinGen
gnomAD
CA378701479
rs1295776732
1306 N>S No ClinGen
gnomAD
CA5743627
rs61758438
1307 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5743628
rs777699040
1308 M>I No ClinGen
ExAC
gnomAD
rs1378665575
CA378701541
1308 M>T No ClinGen
gnomAD
CA215445152
rs926045680
1308 M>V No ClinGen
TOPMed
gnomAD
rs1377766992
CA378701605
1310 D>A No ClinGen
TOPMed
rs1377766992
CA378701613
1310 D>G No ClinGen
TOPMed
CA5743630
rs756213333
1313 Q>K No ClinGen
ExAC
gnomAD
CA5743631
rs780218829
1313 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA5743633
rs768979955
1315 S>G No ClinGen
ExAC
gnomAD
rs1198103347
CA378701748
1315 S>N No ClinGen
gnomAD
rs557378130
CA5743634
1316 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1179477977
CA378701817
1317 L>F No ClinGen
gnomAD
CA5743649
rs771320376
1319 K>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1320 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378702364
rs754014975
1321 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA5743650
rs754014975
1321 Q>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1321 Q>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1303281071
CA378702443
1326 E>* No ClinGen
gnomAD
rs969991889
CA215445734
1327 N>K No ClinGen
Ensembl
CA5743653
rs748476214
1329 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1279978319
CA378702530
1330 K>R No ClinGen
gnomAD
rs1227205955
CA378702545
1332 I>F No ClinGen
TOPMed
CA5743657
rs771529880
1334 P>A No ClinGen
ExAC
gnomAD
TCGA novel 1334 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745390687
CA5743659
1335 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA5743660
rs769279030
1336 P>L No ClinGen
ExAC
gnomAD
CA378702642
rs769279030
1336 P>R No ClinGen
ExAC
gnomAD
CA5743661
rs775236644
1337 D>G No ClinGen
ExAC
gnomAD
CA378702650
rs1488151491
1337 D>H No ClinGen
gnomAD
CA5743663
rs763850565
1338 Y>C No ClinGen
ExAC
gnomAD
CA378702694
rs1172013849
1339 F>L No ClinGen
gnomAD
rs1403163031
CA378702703
1341 V>I No ClinGen
gnomAD
rs1171489658
CA378702742
1344 Y>C No ClinGen
gnomAD
rs767493420
CA5743666
1345 G>R No ClinGen
ExAC
gnomAD
CA378702780
rs1176302935
1347 G>A No ClinGen
TOPMed
gnomAD
rs1176302935
CA378702778
1347 G>E No ClinGen
TOPMed
gnomAD
CA378702784
rs1590916250
1348 F>V No ClinGen
Ensembl
CA215445776
rs774670516
1349 P>L No ClinGen
Ensembl
TCGA novel 1351 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755108989
CA5743668
1353 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1293651177
CA378702836
1353 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1472361796
CA378703094
1354 G>E No ClinGen
TOPMed
gnomAD
TCGA novel 1354 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200738890
CA5743690
1356 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5743691
rs570650112
1359 Y>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA378703126
rs1326738890
1359 Y>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs751916779
CA5743692
1360 R>* No ClinGen
ExAC
gnomAD
CA378703134
rs1333578550
1360 R>Q No ClinGen
gnomAD
CA378703146
rs1489882175
1362 K>R No ClinGen
TOPMed
TCGA novel 1363 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378703176
rs1234426888
1366 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA378703177
rs1256927561
1366 R>H No ClinGen
TOPMed
gnomAD
CA5743695
rs750915688
1367 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs781447632
CA5743694
1367 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1250824243
CA378703201
1370 F>L No ClinGen
gnomAD
CA5743696
rs756633592
1372 A>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA5743697
rs779535490
1372 A>V No ClinGen
ExAC
gnomAD
CA378703221
rs1473117477
1373 R>Q No ClinGen
TOPMed
gnomAD
TCGA novel 1373 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA215447446
rs539143909
1378 F>S No ClinGen
1000Genomes
CA378703265
rs1169845204
1380 N>D No ClinGen
gnomAD
rs778556643
CA378703272
1381 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA5743700
rs778556643
1381 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5743702
rs771871044
1382 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA215447453
rs940501936
1383 K>E No ClinGen
TOPMed
CA378703316
rs1395598829
1387 T>P No ClinGen
gnomAD
rs760648165
CA5743704
1391 G>A No ClinGen
ExAC
gnomAD
rs760648165
CA378703342
1391 G>V No ClinGen
ExAC
gnomAD
CA5743707
rs763142156
1392 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs543463732
CA378703351
1393 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA5743709
rs543463732
1393 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA5743710
rs761987434
1394 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs113965990
CA5743711
1396 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs1485858176
CA378703433
1398 P>S No ClinGen
gnomAD
rs759675258
CA378703471
1400 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA5743727
rs768831824
1401 Y>C No ClinGen
ExAC
gnomAD
CA5743726
rs768831824
1401 Y>F No ClinGen
ExAC
gnomAD
CA5743728
rs762086660
1403 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA378703648
rs1181795810
1409 P>S No ClinGen
gnomAD
rs773566920
CA5743730
1412 D>N No ClinGen
ExAC
gnomAD
TCGA novel 1414 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378703734
rs1014668292
1415 P>A No ClinGen
TOPMed
gnomAD
rs1359007352
CA378703737
1415 P>L No ClinGen
gnomAD
rs1014668292
CA215447516
1415 P>S No ClinGen
TOPMed
gnomAD
CA378703731
rs1014668292
1415 P>T No ClinGen
TOPMed
gnomAD
CA378703784
rs754314509
1419 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs754314509
CA5743733
1419 R>T No ClinGen
ExAC
TOPMed
gnomAD
rs1385068190
CA378703802
1421 V>M No ClinGen
Ensembl
rs755529954
CA5743734
1422 S>P No ClinGen
ExAC
gnomAD
CA378703832
rs1384588200
1423 E>A No ClinGen
gnomAD
CA5743735
rs764713332
1424 Q>E No ClinGen
ExAC
gnomAD
rs779179594
CA215447517
1424 Q>H No ClinGen
Ensembl
CA378703840
rs764713332
1424 Q>K No ClinGen
ExAC
gnomAD
rs752217390
CA5743736
1426 V>I No ClinGen
ExAC
gnomAD
CA378703885
rs1238966148
1427 S>C No ClinGen
gnomAD
TCGA novel 1428 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1431 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1433 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777958830
CA5743764
1433 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5743765
rs747221336
1434 V>F No ClinGen
ExAC
gnomAD
CA5743766
rs747221336
1434 V>I No ClinGen
ExAC
gnomAD
TCGA novel 1436 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs932923212
CA378704132
1436 R>G No ClinGen
TOPMed
rs1050075199
CA215448062
1436 R>Q No ClinGen
gnomAD
CA378704139
rs1199952429
1437 F>Y No ClinGen
TOPMed
rs756231427
CA215448063
1439 Y>* No ClinGen
Ensembl
rs776914792
CA5743767
1441 R>Q No ClinGen
ExAC
gnomAD
TCGA novel 1441 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5743769
rs367916159
1443 I>T No ClinGen
ESP
ExAC
gnomAD
rs759911543
CA5743768
1443 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs527767220
CA5743771
1444 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1590941742
CA378704201
1447 E>A No ClinGen
Ensembl
TCGA novel 1448 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1376673571
CA378704217
1449 N>T No ClinGen
gnomAD
rs370398125
CA5743772
1450 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5743774
rs761487030
1451 D>E No ClinGen
ExAC
gnomAD
CA5743773
rs751178935
1451 D>G No ClinGen
ExAC
gnomAD
CA215448087
rs777850348
1453 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA5743775
rs200693040
1455 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5743802
rs772966246
1456 N>T No ClinGen
ExAC
gnomAD
rs760423213
CA5743803
1459 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs369679951
CA5743805
1460 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1463 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5743807
rs765174319
1463 I>T No ClinGen
ExAC
gnomAD
TCGA novel 1463 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA215454612
rs926802049
1465 T>A No ClinGen
TOPMed
gnomAD
CA5743809
rs757362875
1465 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA378704577
rs757362875
1465 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs746070886
CA5743811
1466 T>A No ClinGen
ExAC
gnomAD
rs766952825
CA215454634
1466 T>I No ClinGen
Ensembl
CA215454639
rs766952825
1466 T>N No ClinGen
Ensembl
TCGA novel 1477 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5743814
rs780214260
1480 K>N No ClinGen
ExAC
gnomAD
CA5743815
rs749672814
1481 S>F No ClinGen
ExAC
gnomAD
rs914199655
CA215454656
1482 V>F No ClinGen
TOPMed
gnomAD
TCGA novel 1482 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs370127033 1485 V>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs368027943
CA5743842
1485 V>M No ClinGen
ESP
ExAC
gnomAD
rs571507465
CA5743844
1486 E>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 1486 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1419055388
CA378705047
1488 S>N No ClinGen
TOPMed
rs762807328
CA5743846
1492 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs2229600
CA215456491
1494 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA215456481
rs1013682202
1494 I>T No ClinGen
TOPMed
gnomAD
rs760837044
CA215456497
1495 E>* No ClinGen
ExAC
gnomAD
CA5743849
rs760837044
1495 E>K No ClinGen
ExAC
gnomAD
CA378705100
rs1213319025
1496 T>I No ClinGen
TOPMed
CA5743850
rs766407265
1498 Q>E No ClinGen
ExAC
gnomAD
CA5743852
rs557337834
1500 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA378705128
rs1197163041
1501 N>D No ClinGen
gnomAD
CA5743854
rs753116576
1501 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA5743856
rs369052092
1502 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA378705178
rs1404175202
1507 M>I No ClinGen
Ensembl
TCGA novel 1507 M>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378705172
rs1259544454
1507 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA378705181
rs1328859274
1508 V>M No ClinGen
TOPMed
CA215456546
rs777096693
1511 H>Q No ClinGen
Ensembl
CA378705232
rs1188826384
1515 P>T No ClinGen
gnomAD
rs377456428
CA5743858
1516 S>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1460702393
CA378705239
1516 S>N No ClinGen
TOPMed
gnomAD
CA5743859
rs780618907
1517 L>R No ClinGen
ExAC
gnomAD
rs1399534546
CA378705253
1518 P>L No ClinGen
gnomAD
CA378705255
rs1328402150
1519 I>V No ClinGen
TOPMed
CA5743861
rs769437313
1520 N>S Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs369947359
CA215456574
1521 P>L No ClinGen
ESP
TOPMed
rs774313094
CA5743865
1524 M>V No ClinGen
ExAC
gnomAD
TCGA novel 1525 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs185222787
CA5743868
1527 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1533 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378705361
rs1485989232
1535 M>T No ClinGen
TOPMed
gnomAD
CA5743872
rs758865912
1538 F>L No ClinGen
ExAC
rs370120157
CA5743874
1539 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1345590772
CA378705401
1541 Y>C No ClinGen
TOPMed
rs1373864109
CA378705405
1542 E>K Variant assessed as Somatic; 4.718e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA5743876
rs780752467
1543 K>E No ClinGen
ExAC
gnomAD
rs749893339
CA5743898
1544 A>V No ClinGen
ExAC
gnomAD
TCGA novel 1545 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1033275695
CA215457421
1547 T>I No ClinGen
gnomAD
CA378705455
rs1033275695
1547 T>R No ClinGen
gnomAD
rs779586829
CA5743900
1547 T>S No ClinGen
ExAC
gnomAD
rs1445787407
CA378705457
1548 D>N No ClinGen
gnomAD
CA378705464
rs748922919
1549 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA5743902
rs754653090
1549 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs748922919
CA5743901
1549 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1239652909
CA378705473
1550 Y>* No ClinGen
gnomAD
rs775545896
CA215457428
1550 Y>F No ClinGen
Ensembl
rs1261428829
CA378705477
1551 L>P No ClinGen
gnomAD
CA5743904
rs41282902
1553 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA378705495
rs1255143724
1554 H>D No ClinGen
gnomAD
rs771997714
CA5743905
1555 P>S No ClinGen
ExAC
gnomAD
rs976087948
CA215457450
1557 A>S No ClinGen
gnomAD
rs1421443887
CA378705524
1558 H>R No ClinGen
gnomAD
rs1417724348
CA378705532
1559 E>G No ClinGen
gnomAD
rs1459433632
CA378705543
1560 K>N No ClinGen
gnomAD
CA215457460
rs377395109
1561 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378705547
rs1268682204
1561 I>N No ClinGen
TOPMed
CA5743909
rs775773512
1562 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA5743910
rs370441071
1565 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375937964
CA215457482
1565 K>R No ClinGen
ESP
gnomAD
rs1311957284
CA378705580
1566 D>G No ClinGen
gnomAD
rs774725509
CA5743912
1566 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA378705588
rs1165198053
1567 L>Q No ClinGen
TOPMed
rs1353427528
CA378705591
1568 I>F No ClinGen
gnomAD
CA378705595
rs1282872622
1568 I>M No ClinGen
TOPMed
gnomAD
CA378705593
rs1231536960
1568 I>T No ClinGen
TOPMed
gnomAD
rs1275124433
CA378705599
1569 A>G No ClinGen
TOPMed
gnomAD
rs912863246
CA215457483
1569 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA378705600
rs1275124433
1569 A>V No ClinGen
TOPMed
gnomAD
rs1335797705
CA378705607
1570 W>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 1570 W>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs375042364
CA5743926
1573 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs771062074
CA5743927
1574 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA378705661
rs1436543387
1576 A>V No ClinGen
gnomAD
CA5743929
rs368905884
1577 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5743930
rs371341893
1579 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1364431386
CA378705705
1583 G>* No ClinGen
gnomAD
CA378705707
rs1229385466
1583 G>A No ClinGen
gnomAD
CA378705709
rs1346206524
1584 D>N No ClinGen
gnomAD
TCGA novel 1585 K>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378705718
rs1236890691
1585 K>E No ClinGen
gnomAD
CA378705735
rs1386524728
1587 T>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA378705741
rs1361816231
1588 E>G No ClinGen
TOPMed
CA5743933
rs772411152
1589 A>V No ClinGen
ExAC
gnomAD
TCGA novel 1590 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378705755
rs1243334883
1591 R>G No ClinGen
gnomAD
CA5743934
rs773632498
1592 P>L No ClinGen
ExAC
gnomAD
CA5743935
rs773632498
1592 P>R No ClinGen
ExAC
gnomAD
rs377304209
CA5743938
1595 E>K No ClinGen
ESP
ExAC
gnomAD
CA215461572
rs549869641
1596 R>S No ClinGen
1000Genomes
rs1173969057
CA378705801
1597 M>I No ClinGen
gnomAD
CA5743939
rs192122020
1598 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs752272582
CA5743940
1599 A>T No ClinGen
ExAC
gnomAD
rs1157084165
CA378705813
1599 A>V No ClinGen
TOPMed
gnomAD
rs777709012
CA5743942
1602 K>R No ClinGen
ExAC
gnomAD
rs1212201667
CA378705842
1603 Q>L No ClinGen
TOPMed
CA378705874
rs1368979040
1607 K>N No ClinGen
gnomAD
CA378705895
rs1486966000
1610 K>R No ClinGen
TOPMed
TCGA novel 1612 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745854253
CA5743946
1613 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA5743948
rs779105233
1614 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1354875886
CA378705925
1615 R>* No ClinGen
TOPMed
rs748312033
CA5743949
1615 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs773506065
CA5743951
1617 M>L No ClinGen
ExAC
gnomAD
CA5743975
rs774808081
1620 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA378705970
rs1290955727
1620 S>T No ClinGen
gnomAD
rs559196315
CA215468469
1622 D>E No ClinGen
Ensembl
rs1451999504
CA378705982
1622 D>G No ClinGen
TOPMed
rs762578228
CA5743976
1622 D>H No ClinGen
ExAC
gnomAD
CA378705989
rs1244819995
1623 D>G No ClinGen
gnomAD
rs1565088975
CA378705985
1623 D>N No ClinGen
Ensembl
rs1244819995
CA378705990
1623 D>V No ClinGen
gnomAD
CA378706023
rs1336971745
1628 R>C No ClinGen
gnomAD
rs774121100
CA5743978
1628 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA378706024
rs774121100
1628 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs1485334624
CA378706031
1629 P>L No ClinGen
gnomAD
CA5743983
rs755946295
1630 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA5743982
rs755946295
1630 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs750234584
CA5743981
1630 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA378706034
rs1591041266
1631 S>A No ClinGen
Ensembl
CA378706044
rs1444218092
1632 M>T No ClinGen
gnomAD
CA378706041
rs1565089031
1632 M>V No ClinGen
Ensembl
CA378706052
rs1591041338
1633 V>G No ClinGen
Ensembl
CA5743984
rs542877171
1633 V>L No ClinGen
1000Genomes
ExAC
gnomAD
rs542877171
CA5743985
1633 V>M No ClinGen
1000Genomes
ExAC
gnomAD
rs374682976
CA5743987
1634 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs777880965
CA5743986
1634 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs757545054
CA5743988
1637 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA5743990
rs746260898
1641 S>A No ClinGen
ExAC
TOPMed
gnomAD
rs886478094
CA215468545
1641 S>L No ClinGen
Ensembl
rs571051175
CA215468547
1643 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs776099873
CA5743992
1643 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA215468587
rs561000918
1651 S>F No ClinGen
1000Genomes
TOPMed
rs368031419
CA5743998
1655 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA378706185
rs753753747
1656 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA5744000
rs766127221
1656 D>H No ClinGen
ExAC
gnomAD
CA5744002
rs754968178
1657 S>N No ClinGen
ExAC
gnomAD
CA378706196
rs1379145417
1658 T>N No ClinGen
TOPMed
rs764157392
CA5744003
1660 S>P No ClinGen
ExAC
gnomAD
CA378706210
rs1190718970
1661 R>G No ClinGen
gnomAD
CA378706214
rs1248828022
1661 R>I No ClinGen
gnomAD
rs1248828022
CA378706212
1661 R>K No ClinGen
gnomAD
rs756475538 1665 D>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs750717801
CA5744007
1665 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA378706244
rs1206625898
1666 G>W No ClinGen
TOPMed
CA215473221
rs886680655
1668 A>P No ClinGen
TOPMed
gnomAD
rs1337389584
CA378706597
1668 A>V No ClinGen
gnomAD
CA378706603
rs1591064187
1669 L>R No ClinGen
Ensembl
rs1230384056
CA378706606
1670 E>* No ClinGen
gnomAD
CA378706614
rs1466809357
1671 P>S No ClinGen
gnomAD
CA215473223
rs575108104
1674 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA378706629
rs575108104
1674 P>T No ClinGen
gnomAD
CA5744022
rs765215139
1678 H>D No ClinGen
ExAC
gnomAD
CA378706661
rs1179223260
1678 H>P No ClinGen
gnomAD
CA378706660
rs765215139
1678 H>Y No ClinGen
ExAC
gnomAD
rs555318752
CA215473241
1679 S>A No ClinGen
Ensembl
CA378706677
rs372787583
1680 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1212278173
CA378706674
1680 R>T No ClinGen
TOPMed
CA378706706
rs1013901279
1684 K>N No ClinGen
TOPMed
gnomAD
CA5744024
rs375994214
1684 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1317775622
CA378706708
1685 L>V No ClinGen
TOPMed
rs1182341810
CA378706716
1686 D>G No ClinGen
gnomAD
CA378706743
rs1416493583
1689 D>E No ClinGen
TOPMed
gnomAD
TCGA novel 1689 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378706774
rs1474043534
1694 K>E No ClinGen
gnomAD
CA215473282
rs78422369
1696 D>E No ClinGen
Ensembl
rs1051019
CA378706821
1700 E>* No ClinGen
gnomAD
rs1372395240
CA378706824
1700 E>G No ClinGen
TOPMed
gnomAD
rs1051019
CA215473309
1700 E>K No ClinGen
gnomAD
CA378706828
rs1410338574
1701 K>E No ClinGen
gnomAD
TCGA novel 1702 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378706839
rs1308759525
1702 R>K No ClinGen
gnomAD
CA5744028
rs780565089
1704 S>I No ClinGen
ExAC
gnomAD
CA378706879
rs1315130051
1707 Q>H No ClinGen
gnomAD
CA5744031
rs779605428
1709 I>T No ClinGen
ExAC
gnomAD
rs755521993
CA5744030
1709 I>V No ClinGen
ExAC
gnomAD
CA378706901
rs748484734
1710 F>L No ClinGen
TOPMed
gnomAD
rs748634880
CA5744032
1712 K>E No ClinGen
ExAC
gnomAD
CA5744033
rs540102365
1713 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1591064679
CA378706938
1715 K>N No ClinGen
Ensembl
rs772398292
CA5744034
1716 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA5744035
rs551703160
1717 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 1717 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378706950
rs1183031479
1718 D>N No ClinGen
TOPMed
gnomAD
rs770554319
CA5744036
1719 I>V No ClinGen
ExAC
gnomAD
rs867511436
CA215473358
1720 S>F No ClinGen
gnomAD
rs867511436
CA378706967
1720 S>Y No ClinGen
gnomAD
rs1189253467
CA378706973
1721 L>P No ClinGen
TOPMed
CA215473369
rs911868740
1722 Q>H No ClinGen
Ensembl
CA215473364
rs781248318
1722 Q>L No ClinGen
Ensembl
CA378707006
rs1168119339
1726 A>G No ClinGen
gnomAD
CA215473372
rs377511922
1726 A>T No ClinGen
ESP
TOPMed
CA215473374
rs79347044
1727 V>G No ClinGen
Ensembl
TCGA novel 1729 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5744037
rs369249792
1730 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs899262328
CA215473409
1731 E>K No ClinGen
Ensembl
CA5744039
rs34175019
1732 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1279908459
CA378707055
1733 I>L No ClinGen
gnomAD
CA378707054
rs1279908459
1733 I>V No ClinGen
gnomAD
rs1212969271
CA378707073
1735 P>L No ClinGen
gnomAD
CA378707070
rs1315839127
1735 P>S No ClinGen
gnomAD
CA378707080
rs1465060783
1737 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA5744059
rs768536912
1737 R>W Variant assessed as Somatic; 5.558e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs920786835
CA215477688
1739 Q>H No ClinGen
Ensembl
CA5744060
rs201179287
1741 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201179287
CA378707107
1741 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1741 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378707112
rs1478989404
1742 K>R No ClinGen
gnomAD
rs1191730858
CA378707119
1743 S>N No ClinGen
gnomAD
CA378707144
CA378707145
rs1407095341
1746 M>I No ClinGen
gnomAD
rs1458588876
CA378707151
1747 N>S No ClinGen
TOPMed
rs201973019
CA5744064
1748 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1391185202
CA378707164
1749 I>T No ClinGen
gnomAD
rs1457947484
CA378707174
1750 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs765629500
CA5744065
1751 S>G No ClinGen
ExAC
gnomAD
CA5744067
rs143736792
1751 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1315396631
CA378707198
1752 E>D No ClinGen
TOPMed
rs368735026
CA5744068
1752 E>K No ClinGen
ESP
ExAC
gnomAD
CA5744069
rs751046805
1754 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA5744070
rs756712008
1754 R>H No ClinGen
ExAC
gnomAD
rs756712008
CA5744071
1754 R>L No ClinGen
ExAC
gnomAD
TCGA novel 1755 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs41314432
CA5744072
1756 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774014626
CA5744074
1757 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA215477803
rs950666492
1758 S>F No ClinGen
TOPMed
gnomAD
CA378707258
rs1453133145
1759 P>S No ClinGen
gnomAD
rs566240366
CA5744076
1760 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 1760 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs566240366
CA378707269
1760 S>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs748120235
CA5744078
1761 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA5744079
rs771076657
1762 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA215477832
rs956007958
1762 P>S No ClinGen
Ensembl
rs373740290
CA5744081
1765 Q>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5744082
rs765612707
1768 P>H No ClinGen
ExAC
gnomAD
TCGA novel 1768 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5744085
rs764547171
1769 P>L No ClinGen
ExAC
gnomAD
CA5744084
rs763264898
1769 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs751958118
CA5744086
1770 P>A No ClinGen
ExAC
gnomAD
rs1350607994
CA378707377
1772 T>I No ClinGen
TOPMed
gnomAD
rs1232102829
CA378707384
1773 P>L No ClinGen
gnomAD
rs767014234
CA5744088
1776 K>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1777 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA215477877
rs975243988
1778 S>G No ClinGen
Ensembl
rs749997656
CA5744089
1778 S>N No ClinGen
ExAC
gnomAD
rs755744605
CA5744090
1778 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs779615103
CA5744091
1779 F>I No ClinGen
ExAC
gnomAD
rs372329635
CA215477890
1781 M>L No ClinGen
TOPMed
CA5744092
rs377449039
1782 Q>H No ClinGen
ESP
ExAC
gnomAD
rs1483429564
CA378707503
1783 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 1783 S>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5744094
rs778782461
1784 S>C No ClinGen
ExAC
gnomAD
rs1230942034
CA378706262
1784 S>I No ClinGen
gnomAD
TCGA novel 1786 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774680101
CA5744122
1786 E>Q No ClinGen
ExAC
gnomAD
CA5744123
rs748554704
1786 E>V No ClinGen
ExAC
gnomAD
rs377311503
CA5744125
1789 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368255250
CA5744126
1789 G>V No ClinGen
ESP
ExAC
gnomAD
rs765740645
CA5744127
1791 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA378706312
rs1197399326
1792 G>E No ClinGen
TOPMed
gnomAD
CA5744129
VAR_059971
rs869801
1793 A>T No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs375977899
CA5744130
1793 A>V Variant assessed as Somatic; 0.0001402 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs764000818
CA5744133
1795 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1256993806
CA378706332
1796 A>T No ClinGen
TOPMed
gnomAD
CA378706344
CA378706343
rs1384819860
1797 D>E No ClinGen
TOPMed
gnomAD
rs757219377
CA5744135
1797 D>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1798 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1303338144
CA378706356
1799 P>L No ClinGen
gnomAD
rs779989177
CA5744136
1801 P>A No ClinGen
ExAC
gnomAD
TCGA novel 1801 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA215449857
rs770399255
1801 P>R No ClinGen
Ensembl
TCGA novel 1801 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1234141477
CA378706375
1803 P>H No ClinGen
gnomAD
TCGA novel 1803 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1803 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749438796
CA5744137
1804 L>F No ClinGen
ExAC
gnomAD
rs1327403817
CA378706387
1805 K>R No ClinGen
gnomAD
CA378706400
rs1210855739
1807 S>N No ClinGen
gnomAD
CA378706404
rs755126443
1807 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs779069875
CA378706405
1808 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs779069875
CA5744139
1808 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5744140
rs748393302
1809 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA5744141
rs535574050
1810 D>E No ClinGen
1000Genomes
ExAC
gnomAD
rs773571301
CA5744142
1811 Y>D No ClinGen
ExAC
gnomAD
rs201376871
CA5744143
1812 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA5744144
rs771525670
1816 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA5744145
rs775981682
1819 D>A No ClinGen
ExAC
gnomAD
CA5744146
rs759123439
1820 L>F No ClinGen
ExAC
gnomAD
CA378706497
rs1445764860
1821 L>P No ClinGen
gnomAD
CA378706500
rs1391437088
1822 G>C No ClinGen
gnomAD
CA215449906
rs750265827
1823 S>L No ClinGen
TOPMed
gnomAD
CA5744148
rs775231422
1824 P>R No ClinGen
ExAC
gnomAD
rs1230242015
CA378706512
1824 P>S No ClinGen
gnomAD
CA5744149
rs762705029
1825 T>A No ClinGen
ExAC
gnomAD
rs1591101195
CA378706525
1826 P>L No ClinGen
Ensembl
rs1395832222
CA378706531
1827 P>L No ClinGen
TOPMed
rs757123723
CA5744152
1828 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA378706533
rs751435075
1828 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs751435075
CA5744151
1828 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA215449936
rs1051040175
1829 P>L No ClinGen
gnomAD
CA215449952
rs889763172
1830 P>L No ClinGen
TOPMed
gnomAD
rs1483759886
CA378706549
1831 P>L No ClinGen
gnomAD
rs1179191359
CA378706562
1833 Q>* No ClinGen
TOPMed
rs1179191359
CA378706561
1833 Q>E No ClinGen
TOPMed
CA378706566
rs1375745164
1833 Q>H No ClinGen
gnomAD
CA5744157
rs778979577
1834 R>G No ClinGen
ExAC
gnomAD
CA378706570
rs1166717804
1834 R>T No ClinGen
gnomAD
CA5744177
rs773681145
1840 L>P No ClinGen
ExAC
gnomAD
TCGA novel 1841 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1490298263
CA378707273
1841 P>T No ClinGen
TOPMed
rs1295844014
CA378707294
1842 S>N No ClinGen
gnomAD
rs1409926515
CA378707323
1843 K>N No ClinGen
gnomAD
CA378707320
rs1368035771
1843 K>R No ClinGen
gnomAD
rs765297075
CA5744178
1845 P>L No ClinGen
ExAC
gnomAD
TCGA novel 1845 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs868636153
CA215451429
1847 P>L No ClinGen
Ensembl
TCGA novel 1847 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778097474
CA5744181
1849 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA378707413
rs1295023705
1849 P>L No ClinGen
TOPMed
TCGA novel 1849 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA215451432
rs778097474
1849 P>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1851 K>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751759224
CA5744182
1852 T>A No ClinGen
ExAC
gnomAD
rs781421126
CA5744184
1854 R>C No ClinGen
ExAC
gnomAD
CA5744186
rs373416529
1854 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5744185
rs373416529
1854 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA378707517
rs2229603
1857 A>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA378707515
rs2229603
1857 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5744188
rs2229603
1857 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5744189
rs369390395
1858 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA378707527
rs369390395
1858 S>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378707534
rs1407193831
1860 D>N No ClinGen
gnomAD
rs199537179
CA215451458
1862 G>R No ClinGen
TOPMed
gnomAD
CA5744193
rs377121875
1863 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378707557
rs1391327078
1863 I>T No ClinGen
gnomAD
CA5744194
rs370457490
1864 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5744195
rs370457490
1864 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5744196
rs752741957
1865 Q>* No ClinGen
ExAC
rs1366107215
CA378707566
1865 Q>R No ClinGen
gnomAD
TCGA novel 1866 Q>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

No associated diseases with Q14185

9 regional properties for Q14185

Type Name Position InterPro Accession
domain SH3 domain 9 - 70 IPR001452
domain C2 DOCK-type domain 421 - 617 IPR027007
domain DOCKER domain 1207 - 1617 IPR027357
domain Dedicator of cytokinesis, N-terminal domain 73 - 416 IPR032376
domain DOCKER, Lobe A 1202 - 1330 IPR046769
domain DOCKER, Lobe B 1388 - 1469 IPR046770
domain DOCKER, Lobe C 1508 - 1610 IPR046773
domain Dedicator of cytokinesis protein 1/5, SH3 domain 13 - 68 IPR047025
domain Dedicator of cytokinesis protein 1, C2 domain 424 - 619 IPR047026

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Membrane
  • Recruited to membranes via its interaction with phosphatidylinositol 3,4,5-trisphosphate
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
guanyl-nucleotide exchange factor complex A protein complex that stimulates the exchange of guanyl nucleotides associated with a GTPase.
nuclear speck A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

4 GO annotations of molecular function

Name Definition
GTPase activator activity Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
guanyl-nucleotide exchange factor activity Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.
SH3 domain binding Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins.
small GTPase binding Binding to a small monomeric GTPase.

9 GO annotations of biological process

Name Definition
apoptotic process A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
cell migration The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
integrin-mediated signaling pathway The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
myoblast fusion A process in which non-proliferating myoblasts fuse to existing fibers or to myotubes to form new fibers. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers.
phagocytosis, engulfment The internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis, including the membrane and cytoskeletal processes required, which involves one of three mechanisms: zippering of pseudopods around a target via repeated receptor-ligand interactions, sinking of the target directly into plasma membrane of the phagocytosing cell, or induced uptake via an enhanced membrane ruffling of the phagocytosing cell similar to macropinocytosis.
positive regulation of epithelial cell migration Any process that activates or increases the frequency, rate or extent of epithelial cell migration.
positive regulation of substrate adhesion-dependent cell spreading Any process that activates or increases the frequency, rate or extent of substrate adhesion-dependent cell spreading.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
small GTPase mediated signal transduction The series of molecular signals in which a small monomeric GTPase relays a signal.

5 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9H7D0 DOCK5 Dedicator of cytokinesis protein 5 Homo sapiens (Human) PR
Q92608 DOCK2 Dedicator of cytokinesis protein 2 Homo sapiens (Human) PR
Q8CIQ7 Dock3 Dedicator of cytokinesis protein 3 Mus musculus (Mouse) PR
Q8C3J5 Dock2 Dedicator of cytokinesis protein 2 Mus musculus (Mouse) PR
Q8BUR4 Dock1 Dedicator of cytokinesis protein 1 Mus musculus (Mouse) PR
10 20 30 40 50 60
MTRWVPTKRE EKYGVAFYNY DARGADELSL QIGDTVHILE TYEGWYRGYT LRKKSKKGIF
70 80 90 100 110 120
PASYIHLKEA IVEGKGQHET VIPGDLPLIQ EVTTTLREWS TIWRQLYVQD NREMFRSVRH
130 140 150 160 170 180
MIYDLIEWRS QILSGTLPQD ELKELKKKVT AKIDYGNRIL DLDLVVRDED GNILDPELTS
190 200 210 220 230 240
TISLFRAHEI ASKQVEERLQ EEKSQKQNID INRQAKFAAT PSLALFVNLK NVVCKIGEDA
250 260 270 280 290 300
EVLMSLYDPV ESKFISENYL VRWSSSGLPK DIDRLHNLRA VFTDLGSKDL KREKISFVCQ
310 320 330 340 350 360
IVRVGRMELR DNNTRKLTSG LRRPFGVAVM DVTDIINGKV DDEDKQHFIP FQPVAGENDF
370 380 390 400 410 420
LQTVINKVIA AKEVNHKGQG LWVTLKLLPG DIHQIRKEFP HLVDRTTAVA RKTGFPEIIM
430 440 450 460 470 480
PGDVRNDIYV TLVQGDFDKG SKTTAKNVEV TVSVYDEDGK RLEHVIFPGA GDEAISEYKS
490 500 510 520 530 540
VIYYQVKQPR WFETVKVAIP IEDVNRSHLR FTFRHRSSQD SKDKSEKIFA LAFVKLMRYD
550 560 570 580 590 600
GTTLRDGEHD LIVYKAEAKK LEDAATYLSL PSTKAELEEK GHSATGKSMQ SLGSCTISKD
610 620 630 640 650 660
SFQISTLVCS TKLTQNVDLL GLLKWRSNTS LLQQNLRQLM KVDGGEVVKF LQDTLDALFN
670 680 690 700 710 720
IMMENSESET FDTLVFDALV FIIGLIADRK FQHFNPVLET YIKKHFSATL AYTKLTKVLK
730 740 750 760 770 780
NYVDGAEKPG VNEQLYKAMK ALESIFKFIV RSRILFNQLY ENKGEADFVE SLLQLFRSIN
790 800 810 820 830 840
DMMSSMSDQT VRVKGAALKY LPTIVNDVKL VFDPKELSKM FTEFILNVPM GLLTIQKLYC
850 860 870 880 890 900
LIEIVHSDLF TQHDCREILL PMMTDQLKYH LERQEDLEAC CQLLSHILEV LYRKDVGPTQ
910 920 930 940 950 960
RHVQIIMEKL LRTVNRTVIS MGRDSELIGN FVACMTAILR QMEDYHYAHL IKTFGKMRTD
970 980 990 1000 1010 1020
VVDFLMETFI MFKNLIGKNV YPFDWVIMNM VQNKVFLRAI NQYADMLNKK FLDQANFELQ
1030 1040 1050 1060 1070 1080
LWNNYFHLAV AFLTQESLQL ENFSSAKRAK ILNKYGDMRR QIGFEIRDMW YNLGQHKIKF
1090 1100 1110 1120 1130 1140
IPEMVGPILE MTLIPETELR KATIPIFFDM MQCEFHSTRS FQMFENEIIT KLDHEVEGGR
1150 1160 1170 1180 1190 1200
GDEQYKVLFD KILLEHCRKH KYLAKTGETF VKLVVRLMER LLDYRTIMHD ENKENRMSCT
1210 1220 1230 1240 1250 1260
VNVLNFYKEI EREEMYIRYL YKLCDLHKEC DNYTEAAYTL LLHAKLLKWS EDVCVAHLTQ
1270 1280 1290 1300 1310 1320
RDGYQATTQG QLKEQLYQEI IHYFDKGKMW EEAIALGKEL AEQYENEMFD YEQLSELLKK
1330 1340 1350 1360 1370 1380
QAQFYENIVK VIRPKPDYFA VGYYGQGFPT FLRGKVFIYR GKEYERREDF EARLLTQFPN
1390 1400 1410 1420 1430 1440
AEKMKTTSPP GDDIKNSPGQ YIQCFTVKPK LDLPPKFHRP VSEQIVSFYR VNEVQRFEYS
1450 1460 1470 1480 1490 1500
RPIRKGEKNP DNEFANMWIE RTIYTTAYKL PGILRWFEVK SVFMVEISPL ENAIETMQLT
1510 1520 1530 1540 1550 1560
NDKINSMVQQ HLDDPSLPIN PLSMLLNGIV DPAVMGGFAN YEKAFFTDRY LQEHPEAHEK
1570 1580 1590 1600 1610 1620
IEKLKDLIAW QIPFLAEGIR IHGDKVTEAL RPFHERMEAC FKQLKEKVEK EYGVRIMPSS
1630 1640 1650 1660 1670 1680
LDDRRGSRPR SMVRSFTMPS SSRPLSVASV SSLSSDSTPS RPGSDGFALE PLLPKKMHSR
1690 1700 1710 1720 1730 1740
SQDKLDKDDL EKEKKDKKKE KRNSKHQEIF EKEFKPTDIS LQQSEAVILS ETISPLRPQR
1750 1760 1770 1780 1790 1800
PKSQVMNVIG SERRFSVSPS SPSSQQTPPP VTPRAKLSFS MQSSLELNGM TGADVADVPP
1810 1820 1830 1840 1850 1860
PLPLKGSVAD YGNLMENQDL LGSPTPPPPP PHQRHLPPPL PSKTPPPPPP KTTRKQASVD
SGIVQ