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

14 structures for P26045

Entry ID Method Resolution Chain Position Source
2B49 X-ray 154 A A 628-913 PDB
4QUM X-ray 252 A A 628-909 PDB
4QUN X-ray 186 A A/B 628-909 PDB
4RH5 X-ray 160 A A 628-909 PDB
4RH9 X-ray 160 A A 628-909 PDB
4RHG X-ray 158 A A 628-909 PDB
4RI4 X-ray 160 A A/B 628-909 PDB
4RI5 X-ray 126 A A/B 628-909 PDB
4S0G X-ray 172 A A 628-909 PDB
6HKS X-ray 219 A A/B/C/D/E/F 489-597 PDB
6T36 X-ray 186 A A 1-913 PDB
8CQY X-ray 170 A A 489-597 PDB
8OEP X-ray 187 A A/C 489-597 PDB
AF-P26045-F1 Predicted AlphaFoldDB

755 variants for P26045

Variant ID(s) Position Change Description Diseaes Association Provenance
CA174287
RCV000149070
rs193920798
211 A>V Malignant tumor of prostate Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] Yes ClinGen
ClinVar
1000Genomes
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
CA5179515
rs765688707
4 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA374663071
rs371966999
4 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5179513
rs147740778
6 R>C Variant assessed as Somatic; 4.637e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5179512
rs777253098
6 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA198007146
rs949617108
7 A>V No ClinGen
TOPMed
gnomAD
CA374663049
rs1477805413
8 L>S No ClinGen
TOPMed
CA374663043
rs1378349248
9 G>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs761116560
CA5179510
9 G>D No ClinGen
ExAC
gnomAD
TCGA novel 11 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA198007142
rs908792391
12 I>V No ClinGen
TOPMed
TCGA novel 14 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5179507
rs200407136
16 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs540108445
CA5179506
16 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA374662998
rs200407136
16 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA5179505
rs774623127
17 T>S No ClinGen
ExAC
gnomAD
CA198007138
rs748202983
18 S>A No ClinGen
Ensembl
CA5179504
rs769548418
18 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs780989989
CA5179502
19 E>G No ClinGen
ExAC
gnomAD
TCGA novel 19 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs970950405
CA198007134
21 P>S No ClinGen
TOPMed
gnomAD
TCGA novel 21 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754873186
CA5179501
26 R>* No ClinGen
ExAC
gnomAD
CA374662934
rs539799147
26 R>L No ClinGen
ExAC
gnomAD
CA5179500
rs539799147
26 R>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA374662935
rs539799147
26 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1445915930
CA374662932
27 S>P No ClinGen
gnomAD
rs1299051378
CA374662926
28 E>* No ClinGen
gnomAD
rs757908209
CA5179498
28 E>V No ClinGen
ExAC
gnomAD
CA374662911
rs1325335791
30 I>V No ClinGen
TOPMed
CA374662884
rs1358360962
33 I>M No ClinGen
gnomAD
rs1564465788
CA374662880
34 H>R No ClinGen
Ensembl
CA5179497
rs750058407
34 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs765028676
CA5179496
35 F>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 36 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1415960960
CA374662861
37 D>H No ClinGen
gnomAD
rs547988784
CA5179495
38 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs567366920
CA5179493
39 V>M No ClinGen
1000Genomes
ExAC
gnomAD
rs374221054
CA5179492
41 Q>* No ClinGen
ESP
ExAC
gnomAD
CA5179491
rs753202614
41 Q>R No ClinGen
ExAC
gnomAD
CA374662828
rs1284307153
42 T>S No ClinGen
gnomAD
CA374662818
rs1206944228
44 K>Q No ClinGen
TOPMed
CA5179490
rs767630494
46 T>A No ClinGen
ExAC
gnomAD
CA5179471
rs753217745
49 D>V No ClinGen
ExAC
gnomAD
CA374662756
rs1316228398
50 T>A No ClinGen
gnomAD
CA198005857
rs780210174
50 T>S No ClinGen
Ensembl
rs906855815
CA374662748
51 G>D No ClinGen
gnomAD
rs906855815
CA198005855
51 G>V No ClinGen
gnomAD
CA374662742
rs760112728
52 Q>H No ClinGen
ExAC
gnomAD
CA5179470
rs767960364
52 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA198005852
rs751601039
53 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs751601039
CA5179468
53 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA374662736
rs1443872548
54 L>I No ClinGen
TOPMed
CA198005849
rs1023996538
55 L>V No ClinGen
Ensembl
rs1475658796
CA374662724
56 D>G No ClinGen
TOPMed
rs372676217
CA198005848
56 D>H No ClinGen
ESP
TOPMed
CA374662715
rs1463617929
57 M>T No ClinGen
gnomAD
CA5179466
rs763107205
59 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA374662700
rs1417570390
59 H>R No ClinGen
TOPMed
rs773485522
CA5179465
60 N>K No ClinGen
ExAC
gnomAD
CA5179464
rs768462820
61 H>Q No ClinGen
ExAC
gnomAD
CA198005842
rs1014250582
63 G>D No ClinGen
TOPMed
rs760432550
CA5179463
64 V>A No ClinGen
ExAC
gnomAD
rs559268858
CA5179462
65 T>P No ClinGen
1000Genomes
ExAC
gnomAD
CA374662651
rs1239326002
67 K>R No ClinGen
gnomAD
TCGA novel 69 Y>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1456520846
CA374662639
69 Y>H No ClinGen
TOPMed
gnomAD
rs1440734460
CA374662609
73 Q>E No ClinGen
Ensembl
rs574197123
CA5179460
CA5179459
73 Q>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
NCI-TCGA
rs1327373433
CA374662600
74 H>R No ClinGen
TOPMed
CA198005837
rs866419010
75 D>N No ClinGen
Ensembl
CA5179456
VAR_055252
rs35285139
77 D>N No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs576352362
CA5179454
79 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1443884202
CA374662559
80 D>G No ClinGen
gnomAD
CA5179453
rs781644795
80 D>N No ClinGen
ExAC
gnomAD
CA5179451
rs752077556
81 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5179452
rs755413839
81 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs150709588
CA5179438
83 R>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1406359837
CA374662517
84 W>C No ClinGen
TOPMed
CA374662516
rs1335156311
85 L>M No ClinGen
gnomAD
CA5179437
rs769293135
86 E>Q No ClinGen
ExAC
gnomAD
rs1413295712
CA374662502
87 A>T No ClinGen
TOPMed
gnomAD
CA5179436
rs747844269
88 S>C No ClinGen
ExAC
gnomAD
CA5179435
VAR_055253
rs3793524
90 A>P No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA374662480
rs3793524
90 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs3793524
CA374662481
90 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5179434
rs755397460
91 I>V No ClinGen
ExAC
gnomAD
rs780583300
CA5179433
92 R>S No ClinGen
ExAC
gnomAD
rs141057944
CA5179431
95 L>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1418395124
CA374662434
97 G>R No ClinGen
gnomAD
rs756417887
CA5179405
97 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs751331910
CA5179404
98 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA374662409
rs1326179927
99 F>C No ClinGen
gnomAD
rs766307216
CA5179402
101 C>S No ClinGen
ExAC
gnomAD
rs1439565420
CA374662384
102 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA374662381
rs1325231345
103 L>P No ClinGen
gnomAD
CA374662377
rs1314936162
104 H>D No ClinGen
gnomAD
TCGA novel 104 H>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5179398
rs761449301
106 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
rs1425996648
CA374662361
106 R>Q No ClinGen
gnomAD
rs1564457972
CA374662350
108 R>K No ClinGen
Ensembl
TCGA novel 110 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5179395
rs760355107
112 P>L No ClinGen
ExAC
gnomAD
rs760355107
CA374662318
112 P>R No ClinGen
ExAC
gnomAD
rs775786259
CA5179394
113 D>E No ClinGen
ExAC
gnomAD
rs1252310900
CA374662310
114 P>T No ClinGen
gnomAD
CA5179393
rs772476130
115 N>K No ClinGen
ExAC
gnomAD
CA5179392
rs746331303
116 T>A No ClinGen
ExAC
gnomAD
CA374662285
rs1319868670
118 Q>* No ClinGen
TOPMed
rs1361499086
CA374662280
118 Q>H No ClinGen
gnomAD
rs1318826839
CA374662277
119 Q>* No ClinGen
gnomAD
rs770901957
CA5179390
123 R>G No ClinGen
ExAC
gnomAD
rs1421432832
CA374662224
124 H>R No ClinGen
gnomAD
CA374662226
rs1159086976
124 H>Y No ClinGen
gnomAD
rs537605429
CA5179353
126 Y>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA374662212
rs1405707044
126 Y>H No ClinGen
gnomAD
rs1425049227
CA374662189
129 Q>K No ClinGen
TOPMed
CA198004090
rs570615503
131 K>R No ClinGen
1000Genomes
gnomAD
CA5179350
rs552251645
132 M>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5179351
rs758110531
132 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs200472346
CA5179348
136 E>K Variant assessed as Somatic; 0.0002338 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs753825128
CA5179347
136 E>V No ClinGen
ExAC
gnomAD
CA5179346
rs763818081
137 G>E No ClinGen
ExAC
gnomAD
rs139361478
CA374662112
138 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1261105027
CA374662110
139 L>I No ClinGen
TOPMed
rs749220165
CA5179329
140 T>P No ClinGen
ExAC
gnomAD
CA5179327
rs756059630
144 N>D No ClinGen
ExAC
gnomAD
rs1400514873
CA374662049
148 V>A No ClinGen
gnomAD
rs1396094033
CA374662044
149 L>P No ClinGen
TOPMed
CA5179325
rs766966545
150 A>V No ClinGen
ExAC
gnomAD
rs751217227
CA5179323
152 Y>C No ClinGen
ExAC
gnomAD
CA198003456
rs988763524
153 A>V No ClinGen
TOPMed
gnomAD
CA5179321
rs138810032
154 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs752000585
CA198003452
155 Q>E No ClinGen
Ensembl
CA374662005
rs1258847302
156 S>P No ClinGen
gnomAD
rs765723127
CA5179297
159 G>R No ClinGen
ExAC
gnomAD
rs1275704877
CA374443242
161 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA374443244
rs1438319042
161 Y>H No ClinGen
TOPMed
rs1482693832
CA374443220
164 S>C No ClinGen
gnomAD
rs1588427065
CA374443223
164 S>T No ClinGen
Ensembl
CA197622364
rs943528133
165 I>V No ClinGen
TOPMed
rs754346304
CA5179295
166 H>Q No ClinGen
ExAC
gnomAD
CA374443209
rs1381479156
166 H>Y No ClinGen
gnomAD
rs760725973
CA5179293
167 H>N No ClinGen
ExAC
gnomAD
rs760725973
CA5179294
167 H>Y No ClinGen
ExAC
gnomAD
rs867565254
CA197622353
168 P>L No ClinGen
Ensembl
rs1250037030
CA374443190
169 G>D No ClinGen
gnomAD
CA197622350
rs776045957
170 Y>C No ClinGen
Ensembl
rs889297900
CA197622348
172 S>F No ClinGen
TOPMed
CA5179290
rs370903570
173 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772217385
CA5179291
173 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs772943029
CA5179289
174 S>G No ClinGen
ExAC
gnomAD
TCGA novel 176 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs145013735
CA5179288
177 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781054586
CA5179287
178 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs781054586
CA5179286
178 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs746441964
CA5179284
179 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 180 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374443073
rs1234737632
186 T>K No ClinGen
gnomAD
rs750154089
CA5179281
188 V>L No ClinGen
ExAC
gnomAD
CA197622311
rs200331488
189 E>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5179277
rs200331488
189 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1291179084
CA374443041
191 L>P No ClinGen
gnomAD
CA374443003
rs761249070
196 S>I No ClinGen
ExAC
gnomAD
CA5179276
rs761249070
196 S>N No ClinGen
ExAC
gnomAD
CA374442973
rs1169857756
199 K>R No ClinGen
TOPMed
CA5179250
rs764002258
202 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA374442951
rs764002258
202 E>V No ClinGen
ExAC
TOPMed
gnomAD
CA5179249
rs760502129
203 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA5179248
rs565991205
206 C>W No ClinGen
1000Genomes
ExAC
gnomAD
CA374442913
rs1198861166
208 I>V No ClinGen
gnomAD
rs1341115721
CA374442893
210 I>M No ClinGen
gnomAD
rs770450233
CA5179245
212 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5179246
rs529250315
212 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs748993613
CA5179244
214 L>F No ClinGen
ExAC
gnomAD
rs777977887
CA5179243
215 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA374442859
rs1483402466
216 F>L No ClinGen
gnomAD
CA5179242
rs768746739
217 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1564440301
CA374442848
218 G>A No ClinGen
Ensembl
CA374442844
rs1398915152
219 V>I No ClinGen
gnomAD
rs1461318097
CA374442834
220 E>V No ClinGen
TOPMed
gnomAD
CA374442820
rs1272430134
222 H>R No ClinGen
TOPMed
rs1211349830
CA374442803
224 G>V No ClinGen
TOPMed
CA5179226
rs578110556
226 D>H No ClinGen
1000Genomes
ExAC
gnomAD
rs578110556
CA197620466
226 D>N No ClinGen
1000Genomes
ExAC
gnomAD
rs770040661
CA5179225
229 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA5179222
rs769107972
238 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1352896334
CA374442696
239 A>T No ClinGen
TOPMed
gnomAD
CA374442693
rs1345596937
239 A>V No ClinGen
TOPMed
CA374442662
rs1275876007
244 Y>S No ClinGen
TOPMed
CA374442658
rs149073049
245 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5179219
rs149073049
245 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5179218
rs750600179
245 R>Q No ClinGen
ExAC
gnomAD
rs757558303
CA5179216
247 Y>C No ClinGen
ExAC
gnomAD
CA5179217
rs145005611
247 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs752503078
CA5179215
248 I>N No ClinGen
ExAC
gnomAD
CA374442640
rs1318853785
248 I>V No ClinGen
TOPMed
gnomAD
CA5179214
rs767443683
249 C>F No ClinGen
ExAC
gnomAD
rs1157552054
CA374442628
250 T>S No ClinGen
gnomAD
TCGA novel 252 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5179199
rs747020559
258 I>S No ClinGen
ExAC
gnomAD
rs192064945
CA5179200
258 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA374442549
rs1413514797
259 L>F No ClinGen
gnomAD
rs199956141
CA197618861
259 L>P No ClinGen
1000Genomes
rs1187541117
CA374442534
261 I>T No ClinGen
gnomAD
TCGA novel 262 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757508296
CA5179198
263 F>I No ClinGen
ExAC
TOPMed
gnomAD
CA5179197
rs146954653
265 R>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1185598358
CA374442489
267 K>N No ClinGen
gnomAD
rs1564431249
CA374442482
268 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
TCGA novel 268 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1187955331
CA374442461
271 H>R No ClinGen
TOPMed
gnomAD
CA5179196
rs781102733
273 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs141258824
CA5179195
273 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1047132115
CA197618849
275 K>E No ClinGen
TOPMed
rs536550850
CA197618289
277 A>G No ClinGen
1000Genomes
CA5179169
rs376928867
278 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA5179167
rs569015635
282 H>L No ClinGen
1000Genomes
ExAC
gnomAD
rs569015635
CA5179168
282 H>R No ClinGen
1000Genomes
ExAC
gnomAD
CA5179165
rs775876677
283 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs765711319
CA197618276
283 I>V No ClinGen
Ensembl
CA374442365
rs1432707870
284 V>M No ClinGen
gnomAD
CA374442334
rs1171817575
288 M>T No ClinGen
TOPMed
rs1466430590
CA374442336
288 M>V No ClinGen
TOPMed
CA374442328
rs1161511203
289 L>V No ClinGen
gnomAD
rs767821078
CA5179164
292 R>* No ClinGen
ExAC
gnomAD
rs374370776
CA374442306
292 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5179163
rs374370776
292 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5179162
rs774785506
293 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA374442293
rs1250799438
294 C>W No ClinGen
gnomAD
CA374442275
rs771119485
297 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs372409514
CA5179160
298 W>R No ClinGen
ESP
ExAC
gnomAD
CA5179158
rs147767465
301 C>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147767465
CA5179157
301 C>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5179156
rs368204104
302 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1188108366
CA374442227
304 H>N No ClinGen
TOPMed
gnomAD
rs1188108366
CA374442228
304 H>Y No ClinGen
TOPMed
gnomAD
CA197618258
rs867698058
306 T>M No ClinGen
Ensembl
rs745807232
CA5179154
308 F>L No ClinGen
ExAC
gnomAD
CA197618254
rs1036248168
310 A>P No ClinGen
gnomAD
CA5179153
rs778767083
311 K>E No ClinGen
ExAC
gnomAD
rs757195571
CA5179152
311 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA197618236
rs374798614
313 L>V No ClinGen
ESP
CA5179150
rs777288597
315 P>S No ClinGen
ExAC
gnomAD
rs1345848069
CA374442134
318 K>E No ClinGen
gnomAD
rs1161464165
CA374442128
318 K>N No ClinGen
gnomAD
rs61736875
CA5179149
319 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5179148
rs752334142
320 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1188337664
CA374442105
322 S>F No ClinGen
gnomAD
CA5179147
rs767921182
323 Q>R No ClinGen
ExAC
gnomAD
CA5179146
rs759874495
327 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5179144
rs766926594
330 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5179145
rs370526852
330 R>W No ClinGen
ESP
ExAC
gnomAD
CA5179142
rs773373501
334 K>T No ClinGen
ExAC
gnomAD
CA5179118
rs376647767
335 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs926725860
CA197616852
336 V>L No ClinGen
TOPMed
gnomAD
rs1415582981
CA374441767
338 N>K No ClinGen
TOPMed
CA374441763
rs1194965008
339 Q>* No ClinGen
gnomAD
CA5179115
rs201919688
340 Y>* No ClinGen
ExAC
gnomAD
CA374441748
rs1176036462
341 C>G No ClinGen
Ensembl
rs1266263961
CA374441742
342 K>E No ClinGen
gnomAD
rs151104500
CA5179113
343 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 343 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5179109
rs142980957
347 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs761447839
CA197616822
348 M>I No ClinGen
TOPMed
gnomAD
rs369138815
CA5179108
349 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA374441683
rs1392233871
350 W>C No ClinGen
gnomAD
CA374441677
rs1588394175
351 N>T No ClinGen
Ensembl
rs1398348939
CA374441672
352 P>A No ClinGen
TOPMed
gnomAD
CA5179105
rs750950689
354 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs568051655
CA5179106
354 M>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs774062306
CA5179102
355 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5179104
rs757816656
355 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 356 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374441639
rs1182062128
357 S>F No ClinGen
gnomAD
rs760856001
CA5179101
360 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs760856001
CA5179100
360 V>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 361 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5179099
rs775757603
362 H>P No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 363 L>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1034193429
CA197616791
363 L>V No ClinGen
Ensembl
rs1191259093
CA374441574
367 S>N No ClinGen
TOPMed
CA5179098
rs766150478
368 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA374441565
rs1281706002
369 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs576273524
CA197616783
370 S>A No ClinGen
Ensembl
CA374441553
rs1237196580
371 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA374441554
rs1237196580
371 R>G No ClinGen
TOPMed
gnomAD
CA197616780
rs371270540
371 R>H No ClinGen
ESP
TOPMed
gnomAD
CA5179097
rs762680641
372 S>C No ClinGen
ExAC
gnomAD
CA197616773
rs1001421869
374 P>A No ClinGen
TOPMed
rs1337759399
CA374441537
374 P>H No ClinGen
gnomAD
rs1286166339
CA374441533
375 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA197616770
rs964435781
377 P>S No ClinGen
TOPMed
CA5179094
rs148558305
378 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5179064
rs144812815
379 W>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA374441391
rs185821807
380 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771804289
CA5179062
380 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1274751670
CA374441371
383 R>Q No ClinGen
gnomAD
rs558168795
CA5179061
383 R>W No ClinGen
1000Genomes
ExAC
gnomAD
CA197616137
rs201397922
385 R>Q No ClinGen
gnomAD
rs749745979
CA5179058
385 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA374441359
rs1588389319
386 H>Y No ClinGen
Ensembl
CA197616130
rs980443001
387 E>D No ClinGen
Ensembl
rs756619933
CA5179056
387 E>K No ClinGen
ExAC
gnomAD
rs1396543362
CA374441341
388 I>M No ClinGen
TOPMed
rs969028888
CA197616126
388 I>V No ClinGen
gnomAD
CA5179055
rs752731768
389 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs752731768
CA374441340
389 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs539842793
CA5179054
389 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs140094288
CA5179052
392 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5179053
rs140094288
392 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1413580101
CA374441310
394 S>P No ClinGen
gnomAD
rs761723063
CA5179050
396 A>P No ClinGen
ExAC
gnomAD
rs761723063
CA197616114
396 A>S No ClinGen
ExAC
gnomAD
CA374441291
rs1469346763
397 D>G No ClinGen
TOPMed
rs1188017444
CA374441285
398 N>Y No ClinGen
gnomAD
CA5179048
rs573117768
400 A>E No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 400 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 402 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1031861146
CA197616113
402 E>K No ClinGen
TOPMed
CA5179046
rs775121164
403 M>I No ClinGen
ExAC
CA5179047
rs760714392
403 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs771752925
CA5179045
405 Y>H No ClinGen
ExAC
gnomAD
CA5179044
rs774111449
406 I>N No ClinGen
ExAC
gnomAD
CA5179043
rs774111449
406 I>T No ClinGen
ExAC
gnomAD
rs1427954288
CA374441233
406 I>V No ClinGen
TOPMed
gnomAD
rs770505018
CA5179042
407 T>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
VAR_055254
CA5179040
rs10979858
409 T>A No ClinGen
UniProt
ExAC
dbSNP
gnomAD
rs770235117
CA5179039
409 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1471294067
CA374441209
410 E>* No ClinGen
Ensembl
rs1414137618
CA374441198
411 D>G No ClinGen
gnomAD
rs1423417342
CA374441195
412 V>I No ClinGen
gnomAD
CA5179035
rs181688303
413 F>L No ClinGen
1000Genomes
ExAC
gnomAD
rs368525928
CA5179033
414 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751714294
CA5179034
414 Y>H No ClinGen
ExAC
gnomAD
rs751714294
CA374441182
414 Y>N No ClinGen
ExAC
gnomAD
CA5179032
rs536512105
415 T>M No ClinGen
1000Genomes
ExAC
gnomAD
rs1427412162
CA374441170
416 Y>H No ClinGen
gnomAD
rs1292862142
CA374441162
417 K>E No ClinGen
TOPMed
rs760662743
CA5179029
417 K>R No ClinGen
ExAC
gnomAD
rs760662743
CA374441160
417 K>T No ClinGen
ExAC
gnomAD
CA5179028
rs752752824
418 G>C No ClinGen
ExAC
gnomAD
rs752752824
CA374441156
418 G>S No ClinGen
ExAC
gnomAD
CA374441148
rs1388330646
419 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs374202196
CA5179027
420 L>V No ClinGen
ESP
ExAC
gnomAD
CA374441139
rs1207054092
421 A>S No ClinGen
gnomAD
rs1482005343
CA374441130
422 P>L No ClinGen
TOPMed
gnomAD
rs1481762603
CA374441133
422 P>S No ClinGen
TOPMed
gnomAD
rs1273870302
CA374441128
423 Q>E No ClinGen
gnomAD
CA374441116
rs1211562107
424 D>V No ClinGen
TOPMed
gnomAD
rs367948677
CA374441108
425 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5179026
rs372151791
425 S>T No ClinGen
ESP
ExAC
gnomAD
rs770579571
CA5179024
426 D>N No ClinGen
ExAC
gnomAD
rs1588388728
CA374441075
430 S>F No ClinGen
Ensembl
CA374441071
rs1280450078
431 Q>* No ClinGen
TOPMed
gnomAD
rs1412097270
CA374441069
431 Q>R No ClinGen
gnomAD
rs1204707512
CA374441060
432 N>I No ClinGen
gnomAD
rs375004037
CA5179023
433 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370298571
CA5179022
433 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770183844
CA5179021
434 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1435949343
CA374441054
434 S>R No ClinGen
gnomAD
CA374441051
rs770183844
434 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs748644877
CA5179020
435 P>L No ClinGen
ExAC
gnomAD
CA5179017
rs200101992
436 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA374440746
rs1032516473
439 S>I No ClinGen
TOPMed
gnomAD
CA197612884
rs1032516473
439 S>N No ClinGen
TOPMed
gnomAD
rs1188401986
CA374440744
439 S>R No ClinGen
gnomAD
rs141809051
CA5179003
442 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5179002
rs141809051
442 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1181246688
CA374440720
443 N>S No ClinGen
gnomAD
rs769164037
CA5179001
444 N>S No ClinGen
ExAC
gnomAD
rs775609338
CA5178999
445 P>L No ClinGen
ExAC
gnomAD
rs775609338
CA374440707
445 P>Q No ClinGen
ExAC
gnomAD
CA5179000
rs747521000
445 P>S No ClinGen
ExAC
gnomAD
rs868723910
CA197612867
446 A>T No ClinGen
TOPMed
rs1405201984
CA374440698
447 Q>* No ClinGen
TOPMed
rs746075257
CA5178997
448 S>N No ClinGen
ExAC
gnomAD
CA374440681
rs1246015001
449 Y>C No ClinGen
gnomAD
CA374440664
rs1473865260
452 Q>* No ClinGen
gnomAD
TCGA novel 452 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374440638
rs780874349
456 S>C No ClinGen
ExAC
gnomAD
rs780874349
CA5178993
456 S>G No ClinGen
ExAC
gnomAD
rs780874349
CA5178994
456 S>R No ClinGen
ExAC
gnomAD
TCGA novel 457 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1251959448
CA374440615
459 S>F No ClinGen
gnomAD
rs1366009855
CA374440620
459 S>P No ClinGen
gnomAD
rs765866650
CA197612851
462 S>* No ClinGen
Ensembl
rs754919153
CA5178992
467 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1459216154
CA374440570
467 S>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1163920014
CA374440564
468 C>S No ClinGen
gnomAD
CA197612844
rs987070083
469 S>L No ClinGen
Ensembl
rs765905557
CA5178990
471 D>H No ClinGen
ExAC
gnomAD
CA374440539
rs750357031
472 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5178988
rs750357031
472 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs769409923
CA197612834
472 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs138707755
CA197612831
473 V>A No ClinGen
ESP
TOPMed
gnomAD
CA374440535
rs141350094
473 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5178986
rs141350094
473 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA197612829
rs933352971
474 D>V No ClinGen
TOPMed
CA5178985
rs564550303
475 Q>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA197612824
rs545853964
475 Q>R No ClinGen
1000Genomes
rs375545706
CA5178983
476 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775920120
CA5178982
477 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs759626144
CA5178980
479 D>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs772651505
CA374440500
479 D>H No ClinGen
ExAC
gnomAD
CA5178981
rs772651505
479 D>Y No ClinGen
ExAC
gnomAD
rs774607981
CA5178979
481 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5178977
rs147174947
482 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1033977712
CA197612810
484 V>E No ClinGen
TOPMed
CA5178976
rs781006029
485 T>N No ClinGen
ExAC
gnomAD
CA374440459
rs1430318145
485 T>P No ClinGen
gnomAD
CA374440454
rs1448306112
486 K>E No ClinGen
gnomAD
CA197612803
rs571664661
488 G>S No ClinGen
TOPMed
gnomAD
rs779797357
CA5178973
488 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs373058480
CA5178969
491 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5178968
rs756874632
492 D>A No ClinGen
ExAC
gnomAD
rs1304765065
CA374440418
492 D>N No ClinGen
gnomAD
rs764506355
CA5178966
493 A>G No ClinGen
ExAC
gnomAD
rs753503028
CA5178967
493 A>P No ClinGen
ExAC
gnomAD
rs753503028
CA374440411
493 A>T No ClinGen
ExAC
gnomAD
CA374440397
rs1240258245
495 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA374440384
rs145875554
496 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1564406551
CA374440358
500 K>E No ClinGen
Ensembl
CA374440333
rs1406121051
501 N>K No ClinGen
TOPMed
CA5178936
rs775242064
501 N>S No ClinGen
ExAC
gnomAD
rs368144041
CA5178934
502 D>E No ClinGen
ESP
ExAC
gnomAD
rs372363344
CA5178935
502 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA374440331
rs372363344
502 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774216839
CA5178933
503 N>S No ClinGen
ExAC
gnomAD
CA374440313
rs1265989836
505 D>N No ClinGen
gnomAD
rs770860303
CA5178932
506 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs1382567071
CA374440301
506 S>I No ClinGen
TOPMed
rs748710824
CA5178931
507 Y>S No ClinGen
ExAC
gnomAD
rs113237352
CA197612711
509 V>A No ClinGen
Ensembl
TCGA novel 510 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5178930
rs376855050
510 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA374440267
rs371910658
511 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5178928
rs747877274
512 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs189241432
CA5178927
512 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1400451714
CA374440241
516 D>N No ClinGen
gnomAD
CA374440213
rs1415006028
520 K>E No ClinGen
gnomAD
rs751982221
CA5178925
520 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1244333910
CA374440209
520 K>R No ClinGen
TOPMed
CA374440172
rs1186266889
525 L>P No ClinGen
TOPMed
CA374440164
rs1472097416
526 K>N No ClinGen
gnomAD
rs780929393
CA5178903
527 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA5178901
rs754678211
529 V>M No ClinGen
ExAC
gnomAD
CA374440114
rs1219170613
532 K>T No ClinGen
gnomAD
CA374440107
rs1275217930
533 M>L No ClinGen
gnomAD
rs1207238288
CA374440093
535 L>I No ClinGen
gnomAD
CA5178899
rs183458658
536 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs758807392
CA5178898
538 S>T No ClinGen
ExAC
gnomAD
CA5178895
rs144915998
539 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5178894
rs753919338
542 P>S No ClinGen
ExAC
gnomAD
TCGA novel 543 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765177743
CA5178867
546 A>T No ClinGen
ExAC
gnomAD
rs1249778129
CA374440011
546 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA374439998
rs1226417769
548 T>S No ClinGen
TOPMed
rs919588386
CA374439955
554 N>K No ClinGen
TOPMed
gnomAD
CA5178864
rs140628740
555 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5178863
rs760397382
556 G>R No ClinGen
ExAC
gnomAD
TCGA novel 557 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1230669336
CA374439922
559 I>T No ClinGen
gnomAD
rs996210738
CA197606992
560 V>M No ClinGen
TOPMed
gnomAD
rs966412863
CA197606987
564 G>S No ClinGen
Ensembl
rs181792746
CA5178860
565 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs771629529
CA5178861
565 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs761380062
CA197606973
567 I>T No ClinGen
Ensembl
rs59324117
CA5178858
569 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs749839684
CA5178857
571 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs749839684
CA374439845
571 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA374439840
rs1322259022
572 H>R No ClinGen
gnomAD
CA5178855
rs140140279
573 D>E No ClinGen
ESP
ExAC
rs748314105
CA197606964
577 M>I No ClinGen
Ensembl
CA5178854
rs146077461
578 F>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5178853
rs781406036
579 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA5178852
rs201209769
580 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5178851
rs750181035
581 A>V No ClinGen
ExAC
gnomAD
CA5178850
rs764989133
583 R>Q No ClinGen
ExAC
gnomAD
rs1465045994
CA374439767
583 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA197606946
rs994658902
584 E>K No ClinGen
Ensembl
rs144304313
CA5178848
586 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757229146
CA5178849
586 H>Y No ClinGen
ExAC
gnomAD
rs199759803
CA5178846
588 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA197606937
rs1055256981
588 R>W No ClinGen
TOPMed
rs760198715
CA5178845
589 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs1300027680
CA374439691
596 R>K No ClinGen
gnomAD
rs1383970512
CA374439677
598 A>T No ClinGen
gnomAD
CA374439662
rs1254631084
598 A>V No ClinGen
TOPMed
rs148505458
CA5178818
600 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759723246
CA5178817
600 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA197605978
rs148505458
600 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs748649101
CA5178815
602 F>I No ClinGen
ExAC
gnomAD
rs748649101
CA374439646
602 F>L No ClinGen
ExAC
gnomAD
rs949371683
CA197605946
602 F>S No ClinGen
TOPMed
gnomAD
rs748649101
CA374439645
602 F>V No ClinGen
ExAC
gnomAD
rs949371683
CA374439644
602 F>Y No ClinGen
TOPMed
gnomAD
rs913841009
CA197605944
605 F>I No ClinGen
Ensembl
CA5178813
CA5178814
rs7859962
VAR_055255
605 F>L No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1199238578
CA374439617
606 K>R No ClinGen
TOPMed
gnomAD
rs568449195
CA5178812
609 D>E No ClinGen
1000Genomes
ExAC
gnomAD
rs1254044349
CA374439590
610 E>* No ClinGen
gnomAD
CA5178811
rs780364886
610 E>A No ClinGen
ExAC
gnomAD
rs1254044349
CA374439592
610 E>K No ClinGen
gnomAD
rs1300673033
CA374439577
612 N>T No ClinGen
TOPMed
rs749042366
CA5178809
613 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1235716126
CA374439559
615 F>L No ClinGen
gnomAD
CA5178808
rs777761915
616 P>L No ClinGen
ExAC
gnomAD
CA374439549
rs1297459785
616 P>S No ClinGen
TOPMed
rs752646788
CA5178806
617 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs754391577
CA374439533
619 I>L No ClinGen
ExAC
gnomAD
rs754391577
CA5178804
619 I>V No ClinGen
ExAC
gnomAD
rs150353247
CA5178803
620 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1173905364
CA374439492
624 P>L No ClinGen
gnomAD
rs750761638
CA5178800
626 G>A No ClinGen
ExAC
gnomAD
CA374439474
rs1473188936
627 G>E No ClinGen
gnomAD
CA374439477
rs1396835414
627 G>R No ClinGen
TOPMed
gnomAD
CA374439470
rs1235067905
628 D>N No ClinGen
TOPMed
gnomAD
rs765628886
CA5178799
629 T>A No ClinGen
ExAC
gnomAD
CA5178798
rs762374942
630 L>S No ClinGen
ExAC
TOPMed
gnomAD
rs1205044185
CA374439452
631 E>Q No ClinGen
TOPMed
CA374439439
rs1460195840
633 S>A No ClinGen
gnomAD
rs1228819752
CA374439431
634 M>L No ClinGen
gnomAD
rs1330988411
CA374439429
634 M>T No ClinGen
gnomAD
rs1277649633
CA374439422
635 A>T No ClinGen
gnomAD
CA374439414
rs1182764872
636 Q>R No ClinGen
TOPMed
CA5178795
rs770897495
638 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA5178793
rs772402348
640 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs761872639
CA197605838
641 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA5178792
rs761872639
641 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs777708935
CA5178791
642 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA374439371
rs1458053605
643 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1470134595
CA374439364
644 G>E No ClinGen
gnomAD
rs763071949
CA5178790
644 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1361970381
CA374439356
645 T>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 647 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1185550682
CA374439337
649 Q>* No ClinGen
gnomAD
rs780927849
CA5178788
649 Q>L No ClinGen
ExAC
gnomAD
CA197605826
rs948316466
650 F>L No ClinGen
TOPMed
gnomAD
CA5178766
rs745395808
652 Q>R No ClinGen
ExAC
gnomAD
CA374438794
rs1358021866
653 L>F No ClinGen
gnomAD
rs753827129
CA197597888
655 R>K No ClinGen
Ensembl
CA5178764
rs573531360
657 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1564381860 658 P>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA5178762
rs371372947
659 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 661 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5178761
rs756685970
662 I>V No ClinGen
ExAC
gnomAD
CA374438683
rs1268755429
663 T>M No ClinGen
gnomAD
rs768153874
CA5178759
666 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5178756
rs766460015
671 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA197597831
rs766460015
671 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1411842017
CA374438624
672 D>V No ClinGen
gnomAD
rs763280816
CA5178755
675 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA374438601
rs763280816
675 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs377718578
CA197597813
676 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377718578
CA5178754
676 Y>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA197597817
rs760664305
676 Y>H No ClinGen
Ensembl
rs1270790665
CA374438586
678 D>N No ClinGen
gnomAD
TCGA novel 679 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5178753
rs768560669
679 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1418149010
CA374438569
680 L>R No ClinGen
TOPMed
CA374438525
rs1161114494
685 T>N No ClinGen
gnomAD
CA374438520
rs1406587220
686 R>Q No ClinGen
gnomAD
rs755576588
CA5178717
686 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1181982614
CA374438516
687 V>L No ClinGen
gnomAD
rs1045080214
CA197597472
690 Q>P No ClinGen
gnomAD
CA374438495
rs1045080214
690 Q>R No ClinGen
gnomAD
rs1202657887
CA374438491
691 G>* No ClinGen
gnomAD
rs946909301
CA197597468
692 N>D No ClinGen
TOPMed
gnomAD
TCGA novel 692 N>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1261753929
CA374438482
692 N>S No ClinGen
gnomAD
CA197597467
rs866921746
693 E>K No ClinGen
Ensembl
CA5178715
rs759379733
696 I>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA5178714
rs138839766
700 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5178712
rs762489165
701 V>M No ClinGen
ExAC
gnomAD
rs1385111987
CA374438414
702 N>D No ClinGen
gnomAD
CA197597423
rs145864054
702 N>S No ClinGen
ESP
TOPMed
gnomAD
CA5178691
rs764903987
704 E>K No ClinGen
ExAC
gnomAD
rs1200771518
CA374438360
708 A>S No ClinGen
TOPMed
gnomAD
rs1200771518
CA374438362
708 A>T No ClinGen
TOPMed
gnomAD
rs768195763
CA5178689
712 N>I No ClinGen
ExAC
gnomAD
CA5178688
rs768195763
712 N>S No ClinGen
ExAC
gnomAD
CA374438313
rs1183157679
715 I>V No ClinGen
TOPMed
CA197595852
rs763936455
716 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA5178686
rs775738603
718 Q>R No ClinGen
ExAC
gnomAD
rs1225526021
CA374438287
719 G>E No ClinGen
TOPMed
gnomAD
CA197595847
rs989608249
719 G>R No ClinGen
Ensembl
TCGA novel 721 L>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778951184
CA5178682
722 P>A No ClinGen
ExAC
gnomAD
rs189256306
CA5178681
722 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA197595808
rs189256306
722 P>R No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 722 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5178678
rs143462283
723 H>R No ClinGen
1000Genomes
ESP
TOPMed
gnomAD
TCGA novel 727 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs965273332
CA197595792
727 Q>R No ClinGen
Ensembl
CA197595785
rs1015472740
728 F>I No ClinGen
gnomAD
CA374438214
rs1177658483
730 Q>H No ClinGen
gnomAD
rs1423335793
CA374438217
730 Q>P No ClinGen
gnomAD
rs1481687336
CA374438205
732 V>F No ClinGen
gnomAD
CA374438197
rs1353022762
733 W>* No ClinGen
TOPMed
CA374438184
rs1427766434
734 D>E No ClinGen
gnomAD
rs1467760394
CA374438189
734 D>N No ClinGen
TOPMed
rs536342787
CA5178675
735 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA5178673
rs751351405
737 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA197595753
rs569359098
740 I>T No ClinGen
Ensembl
rs758348142
CA5178671
741 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs750440450
CA5178670
744 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA5178668
rs761338097
749 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs776311554
CA5178667
749 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA197595698
rs1027223044
751 R>G No ClinGen
Ensembl
CA5178665
rs760293572
751 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5178643
rs759856464
752 T>I No ClinGen
ExAC
gnomAD
rs1564371426
CA374437641
753 K>E No ClinGen
Ensembl
rs774723037
CA5178642
753 K>T No ClinGen
ExAC
gnomAD
rs771408438
CA5178641
755 H>Q No ClinGen
ExAC
CA5178639
rs773333531
759 P>T No ClinGen
ExAC
gnomAD
rs375763821
CA5178638
761 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs748270076
CA5178637
761 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs748270076
CA374437535
761 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs748270076
CA197590478
761 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs375763821
CA374437538
761 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
VAR_055256
CA5178633
rs10116806
763 D>N No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA5178631
rs753778510
764 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1400002705
CA374437498
765 M>V No ClinGen
gnomAD
rs755513213
CA5178630
766 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA374437464
rs373493427
767 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA374437456
rs1413287687
768 G>A No ClinGen
gnomAD
TCGA novel 768 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374437462
rs767031759
768 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA5178627
rs767031759
768 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1003787838
CA374437452
769 G>C No ClinGen
TOPMed
gnomAD
rs1003787838
CA197590383
769 G>S No ClinGen
TOPMed
gnomAD
rs751894907
CA5178625
771 H>D No ClinGen
ExAC
gnomAD
rs1203916643
CA374437424
773 Q>E No ClinGen
TOPMed
gnomAD
rs150008661
CA374437417
774 C>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA374437418
rs150008661
774 C>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs150008661
CA5178624
774 C>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs570425717
CA5178622
777 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1423284098
CA374437379
777 E>V No ClinGen
Ensembl
CA5178621
rs770336003
778 D>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs761756497
CA5178620
779 C>R No ClinGen
ExAC
gnomAD
TCGA novel 781 I>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374437343
rs1210977615
781 I>V No ClinGen
TOPMed
rs370019146
CA5178618
782 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs747274167
CA5178617
783 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA374437315
rs747274167
783 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA374437317
rs747274167
783 Y>S No ClinGen
ExAC
TOPMed
gnomAD
CA5178615
rs770792229
786 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA374437285
rs749113031
786 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA5178614
rs749113031
786 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA374437277
rs1349383875
787 E>G No ClinGen
gnomAD
rs777530030
CA5178613
787 E>K No ClinGen
ExAC
gnomAD
CA374437236
rs1346167071
791 T>A No ClinGen
gnomAD
CA374437227
rs139321235
792 N>D No ClinGen
ESP
TOPMed
gnomAD
CA197590312
rs139321235
792 N>H No ClinGen
ESP
TOPMed
gnomAD
CA374437210
rs780717989
793 T>P No ClinGen
ExAC
gnomAD
CA5178610
rs780717989
793 T>S No ClinGen
ExAC
gnomAD
CA197590285
rs574451296
794 Q>E No ClinGen
1000Genomes
TOPMed
gnomAD
CA374437196
rs1431289892
794 Q>H No ClinGen
gnomAD
rs759615816
CA197589292
795 T>= Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA5178595
rs769584100
796 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1265458936
CA374436719
797 E>K Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1332380627
CA374436689
799 H>Y No ClinGen
TOPMed
rs780662928
CA5178593
800 T>I No ClinGen
ExAC
gnomAD
rs887120621
CA197589267
801 V>A No ClinGen
Ensembl
CA5178591
rs746530947
803 H>L No ClinGen
ExAC
gnomAD
CA374436640
rs1225490459
803 H>Y No ClinGen
gnomAD
rs1436573360
CA374436632
804 L>V No ClinGen
TOPMed
CA5178589
rs750732370
807 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA5178588
rs750732370
807 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA374436587
rs995426157
808 A>S No ClinGen
TOPMed
gnomAD
rs995426157
CA197589236
808 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA374436583
rs1334505404
808 A>V No ClinGen
gnomAD
CA374436555
rs764701966
811 D>H No ClinGen
ExAC
gnomAD
CA5178584
rs764701966
811 D>N No ClinGen
ExAC
gnomAD
CA5178582
rs775732806
812 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5178581
rs767610399
813 G>D No ClinGen
ExAC
gnomAD
CA5178577
rs747913041
816 D>E No ClinGen
ExAC
rs769685005
CA5178579
816 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs769685005
CA5178578
816 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA5178575
rs768615392
817 D>G No ClinGen
ExAC
gnomAD
rs371886206
CA5178576
817 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 819 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs571043610
CA197589148
820 D>E No ClinGen
Ensembl
rs757957361
CA5178572
820 D>N No ClinGen
ExAC
TOPMed
CA5178569
rs779132573
824 F>L No ClinGen
ExAC
gnomAD
CA374436411
rs1564369362
825 V>A No ClinGen
Ensembl
CA5178567
rs375434242
826 N>Y No ClinGen
ExAC
TOPMed
gnomAD
CA5178566
rs778374111
827 Y>C No ClinGen
ExAC
gnomAD
rs1310882886
CA374436384
828 V>M No ClinGen
gnomAD
CA5178565
rs756732632
830 S>C No ClinGen
ExAC
gnomAD
rs767699817
CA374436328
833 V>E No ClinGen
ExAC
gnomAD
rs767699817
CA5178561
833 V>G No ClinGen
ExAC
gnomAD
CA5178559
rs374209870
834 D>G No ClinGen
ESP
ExAC
gnomAD
CA374436321
rs1411637197
834 D>H No ClinGen
TOPMed
rs1382955023
CA374436288
836 E>D No ClinGen
gnomAD
rs1236617838
CA374436293
836 E>G No ClinGen
TOPMed
CA5178558
rs147420952
836 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA374436287
rs761559374
837 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs761559374
CA5178557
837 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs138828543
CA5178554
838 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA374436241
rs1262530911
841 H>R No ClinGen
gnomAD
rs773780893
CA5178531
846 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA374435903
rs1287578970
847 G>R No ClinGen
gnomAD
rs1398139979
CA374435897
848 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA5178530
rs372894176
848 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5178528
rs778265977
850 G>S No ClinGen
ExAC
gnomAD
rs767866017
CA5178527
852 L>S No ClinGen
ExAC
gnomAD
CA5178526
rs748523184
854 T>I No ClinGen
ExAC
gnomAD
rs781698299
CA5178525
855 M>V No ClinGen
ExAC
gnomAD
rs1419778123
CA374435849
856 E>A No ClinGen
gnomAD
rs1419778123
CA374435848
856 E>G No ClinGen
gnomAD
rs370374314
CA5178524
857 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
CA5178523
rs747093162
858 A>T No ClinGen
ExAC
gnomAD
CA5178520
rs750704291
859 M>T No ClinGen
ExAC
gnomAD
rs758617675
CA5178521
859 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA374435818
rs1243668040
861 L>V No ClinGen
TOPMed
rs765458684
CA5178519
864 R>G No ClinGen
ExAC
gnomAD
CA5178517
rs752456729
865 N>S No ClinGen
ExAC
gnomAD
CA374435781
rs1306544426
867 P>A No ClinGen
TOPMed
gnomAD
CA5178515
rs759429073
868 I>V No ClinGen
ExAC
gnomAD
CA197588333
rs1054234573
871 L>R No ClinGen
TOPMed
gnomAD
CA374435740
rs1398272676
873 I>T No ClinGen
gnomAD
rs1337857096
CA374435742
873 I>V No ClinGen
gnomAD
CA374435737
rs1444967868
874 V>I No ClinGen
gnomAD
rs1400639923
CA374435730
875 R>* No ClinGen
gnomAD
rs554596041
CA5178514
875 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1588280309
CA374435715
877 M>T No ClinGen
Ensembl
rs201209437
CA5178512
878 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA374435709
rs1382323139
878 R>Q No ClinGen
gnomAD
rs1157069163
CA374435700
879 D>E No ClinGen
gnomAD
CA197588292
rs757558061
880 Q>R No ClinGen
Ensembl
rs1439374015
CA374435689
881 R>C No ClinGen
TOPMed
gnomAD
CA374435690
rs1439374015
881 R>G No ClinGen
TOPMed
gnomAD
CA5178511
rs772929268
881 R>H No ClinGen
ExAC
gnomAD
rs201640227
CA5178509
882 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1255310697
CA374435675
883 M>I No ClinGen
gnomAD
rs200077324
CA197588270
883 M>T No ClinGen
1000Genomes
TOPMed
CA5178508
rs776911389
884 M>I No ClinGen
ExAC
gnomAD
rs769178303
CA5178507
CA374435664
885 V>L No ClinGen
ExAC
gnomAD
CA5178483
rs778922967
892 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs761116253
CA5178484
892 K>T No ClinGen
ExAC
gnomAD
rs149479153
CA5178482
894 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1242761360
CA374434845
894 V>L No ClinGen
TOPMed
CA5178481
rs531502072
897 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs771178217
CA5178479
899 L>F No ClinGen
ExAC
gnomAD
CA5178477
rs778066954
900 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5178476
rs754659379
900 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs754659379
CA374434761
900 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA5178474
rs780087068
902 Y>C Variant assessed as Somatic; 0.0002772 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1256648740
CA374434691
905 G>D No ClinGen
TOPMed
gnomAD
rs962382044
CA197586428
905 G>S No ClinGen
TOPMed
gnomAD
rs150328766
CA5178472
911 D>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA374434597
rs1276734659
912 P>S No ClinGen
gnomAD
CA374434581
rs1434540553
913 S>N No ClinGen
gnomAD

No associated diseases with P26045

13 regional properties for P26045

Type Name Position InterPro Accession
domain Tyrosine-specific protein phosphatase, PTPase domain 645 - 903 IPR000242
domain FERM domain 29 - 312 IPR000299
domain Tyrosine-specific protein phosphatases domain 819 - 892 IPR000387
domain PDZ domain 510 - 598 IPR001478
domain Protein-tyrosine phosphatase, catalytic 800 - 900 IPR003595
active_site Protein-tyrosine phosphatase, active site 840 - 850 IPR016130
domain FERM, N-terminal 33 - 96 IPR018979
domain FERM, C-terminal PH-like domain 226 - 316 IPR018980
conserved_site FERM conserved site 84 - 113 IPR019747-1
conserved_site FERM conserved site 192 - 221 IPR019747-2
domain FERM central domain 114 - 222 IPR019748
domain Band 4.1 domain 25 - 222 IPR019749
domain PTPN3/4, FERM domain C-lobe 216 - 309 IPR041783

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane; Peripheral membrane protein; Cytoplasmic side
  • Cytoplasm, cytoskeleton
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic side of plasma membrane The leaflet the plasma membrane that faces the cytoplasm and any proteins embedded or anchored in it or attached to its surface.
cytoskeleton A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

5 GO annotations of molecular function

Name Definition
ATPase binding Binding to an ATPase, any enzyme that catalyzes the hydrolysis of ATP.
cytoskeletal protein binding Binding to a protein component of a cytoskeleton (actin, microtubule, or intermediate filament cytoskeleton).
phosphotyrosine residue binding Binding to a phosphorylated tyrosine residue within a protein.
protein tyrosine phosphatase activity Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate.
sodium channel regulator activity Binds to and modulates the activity of a sodium channel.

8 GO annotations of biological process

Name Definition
liver regeneration The regrowth of lost or destroyed liver.
MAPK cascade An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell.
negative regulation of epidermal growth factor receptor signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of epidermal growth factor receptor signaling pathway activity.
negative regulation of membrane protein ectodomain proteolysis Any process that stops, prevents, or reduces the frequency, rate or extent of membrane protein ectodomain proteolysis.
negative regulation of mitotic cell cycle Any process that stops, prevents or reduces the rate or extent of progression through the mitotic cell cycle.
protein dephosphorylation The process of removing one or more phosphoric residues from a protein.
regulation of membrane depolarization during action potential Any process that modulates the rate, frequency or extent of membrane depolarization during an action potential. Membrane depolarization is the process in which membrane potential changes in the depolarizing direction from the resting potential.
regulation of sodium ion transmembrane transporter activity Any process that modulates the frequency, rate or extent of sodium ion transmembrane transporter activity.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q15678 PTPN14 Tyrosine-protein phosphatase non-receptor type 14 Homo sapiens (Human) PR
P29074 PTPN4 Tyrosine-protein phosphatase non-receptor type 4 Homo sapiens (Human) PR
Q9WU22 Ptpn4 Tyrosine-protein phosphatase non-receptor type 4 Mus musculus (Mouse) PR
10 20 30 40 50 60
MTSRLRALGG RINNIRTSEL PKEKTRSEVI CSIHFLDGVV QTFKVTKQDT GQVLLDMVHN
70 80 90 100 110 120
HLGVTEKEYF GLQHDDDSVD SPRWLEASKA IRKQLKGGFP CTLHFRVRFF IPDPNTLQQE
130 140 150 160 170 180
QTRHLYFLQL KMDICEGRLT CPLNSAVVLA SYAVQSHFGD YNSSIHHPGY LSDSHFIPDQ
190 200 210 220 230 240
NEDFLTKVES LHEQHSGLKQ SEAESCYINI ARTLDFYGVE LHSGRDLHNL DLMIGIASAG
250 260 270 280 290 300
VAVYRKYICT SFYPWVNILK ISFKRKKFFI HQRQKQAESR EHIVAFNMLN YRSCKNLWKS
310 320 330 340 350 360
CVEHHTFFQA KKLLPQEKNV LSQYWTMGSR NTKKSVNNQY CKKVIGGMVW NPAMRRSLSV
370 380 390 400 410 420
EHLETKSLPS RSPPITPNWR SPRLRHEIRK PRHSSADNLA NEMTYITETE DVFYTYKGSL
430 440 450 460 470 480
APQDSDSEVS QNRSPHQESL SENNPAQSYL TQKSSSSVSP SSNAPGSCSP DGVDQQLLDD
490 500 510 520 530 540
FHRVTKGGST EDASQYYCDK NDNGDSYLVL IRITPDEDGK FGFNLKGGVD QKMPLVVSRI
550 560 570 580 590 600
NPESPADTCI PKLNEGDQIV LINGRDISEH THDQVVMFIK ASRESHSREL ALVIRRRAVR
610 620 630 640 650 660
SFADFKSEDE LNQLFPEAIF PMCPEGGDTL EGSMAQLKKG LESGTVLIQF EQLYRKKPGL
670 680 690 700 710 720
AITFAKLPQN LDKNRYKDVL PYDTTRVLLQ GNEDYINASY VNMEIPAANL VNKYIATQGP
730 740 750 760 770 780
LPHTCAQFWQ VVWDQKLSLI VMLTTLTERG RTKCHQYWPD PPDVMNHGGF HIQCQSEDCT
790 800 810 820 830 840
IAYVSREMLV TNTQTGEEHT VTHLQYVAWP DHGVPDDSSD FLEFVNYVRS LRVDSEPVLV
850 860 870 880 890 900
HCSAGIGRTG VLVTMETAMC LTERNLPIYP LDIVRKMRDQ RAMMVQTSSQ YKFVCEAILR
910
VYEEGLVQML DPS