Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for B0I1T2

Entry ID Method Resolution Chain Position Source
AF-B0I1T2-F1 Predicted AlphaFoldDB

897 variants for B0I1T2

Variant ID(s) Position Change Description Diseaes Association Provenance
CA4246736
rs762899403
2 E>D No ClinGen
ExAC
gnomAD
CA4246734
rs769523482
4 E>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 5 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367423430
rs1472879606
5 E>D No ClinGen
gnomAD
rs374494970
CA4246733
5 E>K No ClinGen
ESP
ExAC
gnomAD
rs1009219002
CA157961201
6 G>V No ClinGen
TOPMed
gnomAD
rs76849948
CA4246732
7 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs768013797
CA4246731
8 E>V No ClinGen
ExAC
gnomAD
rs1282493620
CA367423410
9 Y>D No ClinGen
TOPMed
rs1282493620
CA367423412
9 Y>N No ClinGen
TOPMed
rs746381955
CA4246730
12 P>H No ClinGen
ExAC
gnomAD
CA367423373
rs1210365013
14 F>S No ClinGen
TOPMed
gnomAD
CA367423362
rs771418567
16 L>F No ClinGen
ExAC
gnomAD
rs1277428289
CA367423361
16 L>H No ClinGen
TOPMed
CA4246728
rs771418567
16 L>V No ClinGen
ExAC
gnomAD
CA4246727
rs140641126
18 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1381479531
CA367423344
19 Q>E No ClinGen
gnomAD
CA367423336
rs1282619821
20 V>M No ClinGen
gnomAD
CA367423288
rs1456032916
26 M>K No ClinGen
gnomAD
CA367423290
rs1322901689
26 M>V No ClinGen
gnomAD
rs752816329
CA4246724
29 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs781334286
CA4246723
30 Q>R No ClinGen
ExAC
gnomAD
CA367423254
rs1415275728
31 L>F No ClinGen
gnomAD
CA367423232
rs1221311302
32 R>S No ClinGen
gnomAD
rs201659933
CA4246700
34 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs756945855
CA4246699
36 G>S No ClinGen
ExAC
gnomAD
rs1403760167
CA367423204
36 G>V No ClinGen
gnomAD
CA4246698
rs370803021
37 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs763720788
COSM3412096
CA4246697
37 R>H Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs376133572
CA157960110
42 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376133572
CA4246695
42 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA367423165
rs1434758148
43 G>S No ClinGen
gnomAD
CA367423146
rs1198668372
45 V>G No ClinGen
gnomAD
TCGA novel 48 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs61739531
VAR_044013
CA4246690
49 V>M allele HA-2M; the HA-2V allele constitute the HA-2 epitope while HA-2M is not recognized by HA-2 cytotoxic T lymphocytes [UniProt] No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1583797810
CA367423120
50 N>T No ClinGen
Ensembl
rs1460513424
CA367423113
51 P>S No ClinGen
TOPMed
CA367423106
rs1583797801
52 Y>S No ClinGen
Ensembl
rs201545083
CA4246688
53 Q>K No ClinGen
ExAC
gnomAD
CA4246687
rs769048455
55 L>R No ClinGen
ExAC
gnomAD
rs747178161
CA4246686
56 P>L No ClinGen
ExAC
gnomAD
rs200838066
CA157960082
56 P>S No ClinGen
1000Genomes
CA367423076
rs1352900250
57 L>P No ClinGen
TOPMed
gnomAD
rs148775890
CA367423077
57 L>V No ClinGen
ESP
ExAC
gnomAD
CA367423062
rs1291223575
59 G>E No ClinGen
TOPMed
CA4246683
rs201090665
60 P>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1395305645
CA367423050
61 E>G No ClinGen
gnomAD
rs62461376
CA157960062
62 A>S No ClinGen
Ensembl
rs757215110
CA367423033
64 A>S No ClinGen
ExAC
gnomAD
rs757215110
CA4246681
64 A>T No ClinGen
ExAC
gnomAD
rs1583797741
CA367423030
64 A>V No ClinGen
Ensembl
CA4246680
rs753620320
66 Y>C No ClinGen
ExAC
gnomAD
TCGA novel 68 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4246678
rs755789331
68 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA4246677
rs752308636
69 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs145958021
CA4246675
69 R>H No ClinGen
1000Genomes
ESP
TOPMed
gnomAD
CA157960008
rs1025495092
71 L>P No ClinGen
Ensembl
CA4246673
rs759102137
72 Y>S No ClinGen
ExAC
gnomAD
CA367422976
rs1183871224
73 E>K No ClinGen
TOPMed
gnomAD
CA4246671
rs144045009
74 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1090025
CA4246672
rs538169011
74 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA367422963
rs1255888194
75 P>L No ClinGen
TOPMed
CA157959984
rs771794310
75 P>S No ClinGen
Ensembl
rs1209756872
CA367422960
76 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 79 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs895308524
CA157959975
79 Y>C No ClinGen
TOPMed
CA367422939
rs895308524
79 Y>F No ClinGen
TOPMed
CA157959972
rs969917828
81 V>L No ClinGen
TOPMed
gnomAD
rs776880632
CA4246669
82 A>S No ClinGen
ExAC
gnomAD
CA367422916
rs1583797602
83 N>T No ClinGen
Ensembl
CA4246668
rs769101475
84 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA4246666
rs377581554
85 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA367422897
rs1446033272
86 Y>C No ClinGen
Ensembl
rs746002482
CA4246664
87 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1461748486
CA367422886
88 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs779019726
CA4246662
89 M>I No ClinGen
ExAC
gnomAD
rs368929221
CA157959938
89 M>L No ClinGen
ESP
TOPMed
rs1269290300
CA367422873
90 K>Q No ClinGen
TOPMed
CA4246661
rs770827963
91 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4246659
rs139094604
92 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs199877330
CA4246660
92 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 93 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1278788997
CA367422849
94 R>G No ClinGen
TOPMed
CA367422835
rs755842091
95 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA4246657
rs752474007
96 T>A No ClinGen
ExAC
gnomAD
CA4246656
rs146195000
96 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4246655
rs146195000
96 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4246654
rs146195000
96 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1395799151
CA367422829
97 C>Y No ClinGen
TOPMed
rs1265444844
CA367422822
98 I>F No ClinGen
gnomAD
CA4246651
rs773866590
99 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs764568895
CA4246650
102 G>W No ClinGen
ExAC
gnomAD
rs376285247
CA157959764
103 E>Q No ClinGen
Ensembl
CA4246620
rs748025444
105 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA367422761
rs1270520109
106 A>T No ClinGen
gnomAD
CA4246619
rs776440562
107 G>E No ClinGen
ExAC
gnomAD
rs779815381
CA4246616
109 T>K No ClinGen
ExAC
gnomAD
TCGA novel 110 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4246615
rs79603179
110 E>K No ClinGen
ExAC
gnomAD
CA367422719
rs1562834432
112 S>N No ClinGen
Ensembl
CA367422717
rs1289002157
112 S>R No ClinGen
gnomAD
rs541825395
CA157959749
114 H>Y No ClinGen
TOPMed
CA4246613
rs778545686
117 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs778545686
CA367422684
117 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs915741324
CA157959743
120 A>G No ClinGen
TOPMed
rs372361298
CA4246611
120 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs202131850
CA157959733
121 A>S No ClinGen
Ensembl
rs369562485
CA4246610
124 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1413366209
CA367422635
125 P>S No ClinGen
gnomAD
rs1470917691
CA367422594
130 E>D No ClinGen
gnomAD
rs751862160
CA4246608
132 E>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 133 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4246607
rs766661597
133 R>T No ClinGen
ExAC
CA367422558
rs1269762882
134 V>D No ClinGen
TOPMed
gnomAD
CA367422535
rs1460734918
137 V>G No ClinGen
gnomAD
CA4246592
rs201682799
137 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA367422510
rs1248541005
141 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA367422508
rs1170701280
142 T>A No ClinGen
TOPMed
rs933845034
CA367422506
142 T>I No ClinGen
TOPMed
gnomAD
CA157959254
rs933845034
142 T>S No ClinGen
TOPMed
gnomAD
rs781753632
CA4246591
143 C>R No ClinGen
ExAC
gnomAD
CA4246590
rs149320563
143 C>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780229491
CA4246588
144 V>M No ClinGen
ExAC
gnomAD
TCGA novel 145 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1386001080
CA367422479
147 A>T No ClinGen
TOPMed
rs1318754883
CA367422456
150 N>S No ClinGen
Ensembl
rs750576329
CA4246585
152 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA4246584
rs138665059
152 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA367422443
rs138665059
152 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1583796138
CA367422442
153 T>P No ClinGen
Ensembl
rs1345130239
CA367422432
154 N>S No ClinGen
gnomAD
CA4246582
rs761496818
155 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA4246581
rs764134145
COSM1450978
155 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA367422425
rs764134145
155 R>L No ClinGen
ExAC
gnomAD
rs760508039
CA4246580
156 N>S No ClinGen
ExAC
gnomAD
CA367422413
rs1443650788
157 H>R No ClinGen
gnomAD
rs1419921255
CA367422406
158 N>T No ClinGen
gnomAD
CA367422397
rs1583796068
159 S>F No ClinGen
Ensembl
CA4246579
rs775378186
159 S>P No ClinGen
ExAC
gnomAD
CA157959199
rs983810090
COSM400676
161 R>C lung [Cosmic] No ClinGen
cosmic curated
TOPMed
rs771955737
CA4246578
161 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA4246576
rs774092283
163 G>R No ClinGen
ExAC
gnomAD
rs1224686153
CA367422368
164 K>R No ClinGen
TOPMed
rs770696573
CA4246575
165 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs748844106
CA4246574
167 D>V No ClinGen
ExAC
rs1305178170
CA367422329
169 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1583796011
CA367422325
170 F>V No ClinGen
Ensembl
rs1468066992
CA367422291
174 G>A No ClinGen
TOPMed
CA4246572
rs150595238
174 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4246571
rs150595238
174 G>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1213236080
CA367422276
176 P>L No ClinGen
gnomAD
rs1583795956
CA367422274
177 I>V No ClinGen
Ensembl
CA4246569
rs758703751
178 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1366837300
CA367422264
178 G>V No ClinGen
gnomAD
rs779172188
CA4246567
181 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA4246565
rs200185437
186 L>P No ClinGen
1000Genomes
ExAC
gnomAD
rs757493511
CA4246546
189 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs777917603
CA4246545
190 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs777917603
CA367422176
190 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs777917603
CA4246544
COSM1090021
190 R>Q endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA367422177
rs1205985181
190 R>W No ClinGen
gnomAD
TCGA novel 192 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367422159
rs1203998039
193 K>R No ClinGen
gnomAD
CA367422153
rs1234875645
194 Q>* No ClinGen
TOPMed
CA367422155
rs1234875645
194 Q>E No ClinGen
TOPMed
rs535530112
CA4246542
195 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4246541
COSM283059
rs767632037
196 V>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 197 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 201 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4246538
rs761378235
203 A>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4246539
rs761378235
203 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA157958893
rs761378235
203 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA4246537
rs762667215
205 Y>* No ClinGen
ExAC
gnomAD
rs1337132547
CA367422068
206 Q>R No ClinGen
gnomAD
CA367422037
rs1314998636
209 R>S No ClinGen
TOPMed
TCGA novel 210 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774786191
CA4246512
211 S>N No ClinGen
ExAC
gnomAD
rs771458391
CA4246511
212 E>K No ClinGen
ExAC
gnomAD
CA367422010
rs1223524496
213 D>G No ClinGen
TOPMed
CA367421990
rs1260341217
216 L>V No ClinGen
gnomAD
rs1291897339
CA367421982
217 H>R No ClinGen
gnomAD
CA367421984
rs1487704049
217 H>Y No ClinGen
gnomAD
CA157954647
rs773599271
218 E>* No ClinGen
ExAC
gnomAD
CA4246507
rs145240682
218 E>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs145240682
CA4246508
218 E>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4246509
rs773599271
218 E>K No ClinGen
ExAC
gnomAD
rs371408293
CA367421960
220 H>Q No ClinGen
ESP
ExAC
gnomAD
rs138286002
CA4246505
220 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1470198210
CA367421927
223 R>G No ClinGen
TOPMed
rs779921725
CA367421920
223 R>I No ClinGen
ExAC
TOPMed
gnomAD
rs779921725
CA4246503
223 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA367421899
rs1381701299
225 P>T No ClinGen
gnomAD
rs778721252
CA4246501
226 A>P No ClinGen
ExAC
gnomAD
rs778721252
CA4246502
226 A>S No ClinGen
ExAC
gnomAD
rs778721252
CA4246500
226 A>T No ClinGen
ExAC
gnomAD
rs149988287
CA4246499
226 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1038376929
CA157954619
229 N>D No ClinGen
TOPMed
gnomAD
CA367421849
rs1165905258
229 N>S No ClinGen
TOPMed
CA367421819
rs1365203672
231 T>I No ClinGen
TOPMed
gnomAD
rs753424886
CA4246498
232 H>N No ClinGen
ExAC
TOPMed
gnomAD
CA367421791
rs1371823383
233 Q>H No ClinGen
TOPMed
gnomAD
CA367421781
rs1193038507
234 G>A No ClinGen
TOPMed
gnomAD
rs1193038507
CA367421783
234 G>E No ClinGen
TOPMed
gnomAD
CA367421788
rs1443039069
234 G>R No ClinGen
TOPMed
CA157954612
rs1002575674
235 A>G No ClinGen
TOPMed
gnomAD
CA4246497
rs763609190
236 G>E No ClinGen
ExAC
gnomAD
rs1315533665
CA367421730
239 M>L No ClinGen
TOPMed
CA4246496
rs565338681
239 M>T No ClinGen
1000Genomes
ExAC
gnomAD
CA4246495
rs752202083
240 T>I No ClinGen
ExAC
gnomAD
CA367421689
COSM50559
rs1341279319
242 H>Q breast [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1331079679
CA367421607
245 L>F No ClinGen
TOPMed
gnomAD
CA367421610
rs1334213413
245 L>S No ClinGen
gnomAD
CA367421576
rs1408903947
247 S>R No ClinGen
gnomAD
CA367421488
rs1487017478
254 A>E No ClinGen
gnomAD
rs1158645708
COSM1239528
CA367421491
254 A>T oesophagus [Cosmic] No ClinGen
cosmic curated
gnomAD
rs868581313
CA157954388
256 T>I No ClinGen
TOPMed
gnomAD
rs745778626
CA4246484
257 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1201645863
CA367421467
258 A>T No ClinGen
gnomAD
rs1225589960
CA367421456
259 M>I No ClinGen
gnomAD
rs145850475
CA4246482
259 M>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145850475
CA4246481
259 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs61742025
CA4246480
260 R>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200568970
CA367421445
261 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4246479
rs200568970
261 V>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA367421442
rs1385380744
262 I>V No ClinGen
gnomAD
CA4246478
rs752201322
263 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA367421429
rs1346321841
264 F>V No ClinGen
gnomAD
rs1318392118
CA367421422
265 S>G No ClinGen
gnomAD
rs1343084944
CA367421415
266 P>S No ClinGen
TOPMed
CA157954339
rs199503090
267 E>K No ClinGen
1000Genomes
CA367421372
rs1583791929
269 V>G No ClinGen
Ensembl
rs1402009966
CA367421380
269 V>M No ClinGen
gnomAD
CA367421366
rs1231794549
270 E>* No ClinGen
TOPMed
CA367421328
rs1157622831
273 H>D No ClinGen
gnomAD
CA4246476
rs576547378
273 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA367421312
rs1386789972
274 R>C No ClinGen
gnomAD
rs750882648
CA4246475
274 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs149854663
CA4246474
275 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200523348
CA4246473
276 L>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA367421283
rs1217998609
277 A>P No ClinGen
gnomAD
rs1562831597
CA367421277
277 A>V No ClinGen
Ensembl
CA367421273
rs1445403339
278 A>T No ClinGen
gnomAD
rs777103562
CA4246472
278 A>V No ClinGen
ExAC
gnomAD
CA367421264
rs1223457342
279 I>L No ClinGen
gnomAD
CA367421262
rs1223457342
279 I>V No ClinGen
gnomAD
CA367421233
rs1268350673
281 H>P No ClinGen
TOPMed
rs900047377
CA157954320
281 H>Y No ClinGen
TOPMed
rs867736209
CA157954314
282 L>P No ClinGen
Ensembl
rs1361872538
CA367421223
282 L>V No ClinGen
gnomAD
CA4246462
rs755789533
286 E>K No ClinGen
ExAC
gnomAD
CA367421114
rs1374099795
286 E>V No ClinGen
TOPMed
rs141019616
CA4246461
288 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141019616
CA367421094
288 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4246460
rs201309689
290 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM313059
rs1172281136
CA367421047
291 E>D lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs202161315
CA157953859
292 E>K No ClinGen
Ensembl
CA367421025
rs1463950578
293 G>C No ClinGen
gnomAD
rs1481483839
CA367420967
298 E>K No ClinGen
gnomAD
TCGA novel 299 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1202937495
CA367420927
301 A>E No ClinGen
gnomAD
rs765884251
CA4246456
301 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1317833703
CA367420914
302 V>A No ClinGen
gnomAD
CA4246454
rs144037510
304 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA367420881
rs760984092
305 E>D No ClinGen
ExAC
gnomAD
rs139240752
CA4246453
305 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA367420867
rs1218211374
306 A>V No ClinGen
gnomAD
rs775723751
CA4246451
307 L>Q No ClinGen
ExAC
gnomAD
rs1399419760
CA367420851
308 V>A No ClinGen
TOPMed
gnomAD
CA4246449
rs759730175
308 V>L No ClinGen
ExAC
gnomAD
CA157953802
rs963986926
310 H>Y No ClinGen
gnomAD
CA367420790
rs1419877433
313 E>K No ClinGen
gnomAD
rs1410522053
CA367420784
313 E>V No ClinGen
gnomAD
rs1272794251
CA367420773
314 L>Q No ClinGen
TOPMed
gnomAD
CA367420763
rs774267015
315 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs774267015
CA4246448
COSM1450975
315 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA367420761
rs774267015
315 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA367420735
rs1403430680
317 T>I No ClinGen
TOPMed
CA367420714
rs201269538
319 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4246445
rs201269538
319 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA367420720
rs1322760502
319 R>W No ClinGen
TOPMed
CA4246443
rs529814356
322 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs754554734
CA4246441
324 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs762665139
COSM1450974
CA4246440
324 R>H large_intestine haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs779661449
CA4246439
325 S>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 325 S>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs906770427
CA157953716
328 A>T No ClinGen
gnomAD
rs142047672
CA4246437
328 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1302326073
CA367420614
329 R>C No ClinGen
gnomAD
CA4246436
rs764567133
329 R>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 329 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA157953674
rs749976915
330 T>I No ClinGen
ExAC
gnomAD
rs749976915
CA4246435
330 T>R No ClinGen
ExAC
gnomAD
rs1583791040
CA367420584
332 A>S No ClinGen
Ensembl
rs905570815
CA157953641
333 S>L No ClinGen
TOPMed
gnomAD
CA367420558
rs1386183561
334 G>E No ClinGen
gnomAD
CA4246432
rs374832205
335 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374832205
CA367420548
335 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767824357
CA4246433
335 G>S No ClinGen
ExAC
gnomAD
rs374832205
CA4246431
335 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA367420504
rs1199362206
339 I>V No ClinGen
gnomAD
rs532010528
CA4246429
340 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA367420431
rs1352540528
344 T>A No ClinGen
gnomAD
CA157953596
rs757768100
350 Y>H No ClinGen
Ensembl
CA367420364
rs1338594736
351 A>V No ClinGen
gnomAD
rs768375129
CA4246424
352 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs768375129
CA367420359
352 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs776266211
CA4246425
352 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA4246423
rs558589142
353 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs868866517
CA157953567
354 A>V No ClinGen
Ensembl
CA367420308
rs1470360384
356 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 357 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367419954
rs1350175797
358 A>G No ClinGen
gnomAD
rs770358784
CA4246401
361 Q>L No ClinGen
ExAC
gnomAD
CA4246400
rs748567359
362 R>Q No ClinGen
ExAC
gnomAD
CA367419900
rs1324315404
364 F>S No ClinGen
gnomAD
rs781626265
CA4246399
364 F>V No ClinGen
ExAC
gnomAD
TCGA novel 366 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA157953428
rs989561733
366 W>R No ClinGen
gnomAD
rs370221955
CA4246397
367 V>A No ClinGen
ESP
ExAC
rs755351228
CA4246398
367 V>M No ClinGen
ExAC
gnomAD
rs1583790746
CA367419837
368 V>G No ClinGen
Ensembl
CA4246396
rs780291110
CA367419820
369 N>K No ClinGen
ExAC
gnomAD
rs1400235540
CA367419828
369 N>S No ClinGen
TOPMed
rs958128215
CA157953406
370 R>K No ClinGen
TOPMed
gnomAD
CA367419807
rs1319277384
370 R>S No ClinGen
TOPMed
CA4246395
rs758593558
373 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA157953401
rs1031615007
373 S>T No ClinGen
TOPMed
CA4246394
rs750522884
375 M>T No ClinGen
ExAC
gnomAD
rs1562830928
CA367419711
376 E>* No ClinGen
Ensembl
rs1470606384
CA367419686
377 P>L No ClinGen
gnomAD
rs377745166
CA4246393
377 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377745166
CA367419698
377 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4246391
rs546640885
378 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs374351000
CA367419681
378 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374351000
CA4246390
378 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4246392
rs546640885
378 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs200247779
CA4246388
380 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4246387
rs767329499
380 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4246389
rs200247779
380 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs773946753
CA4246385
381 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA4246384
rs748813866
383 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA4246381
rs371241303
383 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4246382
rs371241303
383 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1450972
CA4246383
rs748813866
383 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4246380
rs747419960
384 R>C No ClinGen
ExAC
gnomAD
rs148616273
CA4246379
384 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1477759404
CA367419607
385 D>N No ClinGen
TOPMed
CA4246378
rs758648715
386 G>S No ClinGen
ExAC
gnomAD
CA157953311
rs1022622791
386 G>V No ClinGen
TOPMed
CA367419567
rs1344538725
387 K>R No ClinGen
gnomAD
TCGA novel 388 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746021934
CA367419530
389 T>I No ClinGen
ExAC
gnomAD
CA4246377
rs746021934
389 T>K No ClinGen
ExAC
gnomAD
rs779062594
CA4246376
390 V>I No ClinGen
ExAC
TOPMed
rs1297967644
CA367419503
391 I>S No ClinGen
TOPMed
rs763979006
CA4246373
393 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 395 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367419441
rs1335619193
396 I>N No ClinGen
gnomAD
CA4246371
rs376644026
396 I>V No ClinGen
ESP
ExAC
gnomAD
CA367419424
rs1412299151
397 Y>C No ClinGen
gnomAD
CA4246369
rs759270351
400 E>K No ClinGen
ExAC
gnomAD
TCGA novel 400 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367419356
rs1583790572
401 V>G No ClinGen
Ensembl
rs61740095
CA4246367
403 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA367419334
rs1231916019
403 P>S No ClinGen
TOPMed
rs772753676
CA4246365
404 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1340702590
CA367419244
408 E>K No ClinGen
gnomAD
rs1278266534
CA367419206
411 C>Y No ClinGen
gnomAD
CA4246347
rs749930736
412 I>S No ClinGen
ExAC
TOPMed
gnomAD
rs1401347682
CA367419196
412 I>V No ClinGen
gnomAD
CA4246346
rs764660208
414 Y>H No ClinGen
ExAC
gnomAD
rs1425221749
CA367419146
415 C>R No ClinGen
TOPMed
CA4246345
rs761183049
416 N>H No ClinGen
ExAC
gnomAD
rs1351334425
CA367419125
416 N>S No ClinGen
gnomAD
CA157952734
rs893067745
417 E>K No ClinGen
Ensembl
rs1404682476
CA367419102
418 K>E No ClinGen
gnomAD
CA4246342
rs771068176
420 Q>* No ClinGen
ExAC
gnomAD
rs1054756115
CA157952675
423 F>L No ClinGen
Ensembl
rs1423036709
CA367418982
426 L>I No ClinGen
TOPMed
gnomAD
CA4246341
rs774762623
426 L>P No ClinGen
ExAC
gnomAD
rs1048268186
CA157952642
427 I>V No ClinGen
TOPMed
gnomAD
CA367418919
rs1245292153
430 Q>P No ClinGen
gnomAD
rs1562830447
CA367418893
432 Q>K No ClinGen
Ensembl
rs374911863
CA4246340
432 Q>R No ClinGen
ESP
ExAC
gnomAD
rs749457397
CA157952633
433 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA4246339
rs749457397
433 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs201604505
CA367418833
435 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201080539
CA157952630
435 Y>F No ClinGen
1000Genomes
CA367418825
rs545754641
436 E>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs545754641
CA4246336
436 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs545754641
CA4246337
436 E>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4246335
rs781350023
437 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA4246334
rs199915467
437 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs138418256
CA4246332
438 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA367418777
rs1353491925
439 G>D No ClinGen
TOPMed
TCGA novel 439 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4246330
rs199914832
441 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4246331
rs199914832
441 T>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs758264063
CA4246310
445 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA367418599
rs1583789775
447 Y>D No ClinGen
Ensembl
CA157952319
rs1042764007
451 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1562830271
CA367418446
457 V>A No ClinGen
Ensembl
CA367418441
rs1286308862
458 E>Q No ClinGen
TOPMed
rs753359428
CA4246306
459 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4246307
rs200348996
459 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4246305
rs763526010
462 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA367418378
rs1353993162
462 R>H No ClinGen
TOPMed
gnomAD
CA367418374
rs1353993162
462 R>L No ClinGen
TOPMed
gnomAD
rs1353993162
CA367418376
462 R>P No ClinGen
TOPMed
gnomAD
rs1485581442
CA367418358
464 I>L No ClinGen
gnomAD
CA367418310
rs1313276657
467 V>A No ClinGen
gnomAD
CA367418305
rs1313276657
467 V>E No ClinGen
gnomAD
rs150434835
CA4246300
COSM746769
467 V>M lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA4246299
rs367581527
468 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs909340605
CA157952298
469 D>A No ClinGen
Ensembl
rs141395808
CA367418266
469 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA157952288
rs985097448
470 E>K No ClinGen
Ensembl
CA4246296
rs768734596
472 C>* No ClinGen
ExAC
TOPMed
gnomAD
CA157952275
rs951011944
472 C>F No ClinGen
Ensembl
TCGA novel 474 S>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4246295
rs747038665
477 T>A No ClinGen
ExAC
CA367418121
rs1400821857
477 T>N No ClinGen
TOPMed
gnomAD
rs1562830208
CA367418090
479 T>A No ClinGen
Ensembl
rs199731003
CA157952229
480 D>G No ClinGen
1000Genomes
COSM1450969
CA4246293
rs771899380
481 R>* large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA367418045
rs745720343
481 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA4246292
rs745720343
481 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA367418037
rs1369432853
482 I>V No ClinGen
gnomAD
rs201569078
CA157952185
485 Q>K No ClinGen
TOPMed
gnomAD
CA574227573
rs1253392273
485 Q>L No ClinGen
gnomAD
CA367417895
rs1336442389
489 M>I No ClinGen
TOPMed
VAR_044014
CA4246290
rs3735485
489 M>T No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA367417886
rs1583789510
490 H>P No ClinGen
Ensembl
rs1265811290
CA367417872
491 H>D No ClinGen
gnomAD
rs1357741526
CA367417863
491 H>P No ClinGen
TOPMed
CA4246289
rs748898010
492 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA4246288
rs777168514
492 R>H No ClinGen
ExAC
gnomAD
CA367417853
rs748898010
492 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA367417830
rs1219370510
493 H>D No ClinGen
gnomAD
CA4246285
rs766972278
495 L>V No ClinGen
ExAC
gnomAD
CA367417773
rs1456831932
496 H>R No ClinGen
TOPMed
gnomAD
rs758921531
CA4246284
496 H>Y No ClinGen
ExAC
gnomAD
rs750824729
CA4246283
497 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs750824729
CA367417753
497 Y>S No ClinGen
ExAC
TOPMed
gnomAD
CA4246282
rs765659912
498 T>P No ClinGen
ExAC
gnomAD
rs1477892136
CA367417703
499 S>R No ClinGen
gnomAD
CA4246281
rs762149642
500 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA4246280
rs777044357
500 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA367417687
rs777044357
500 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA367417678
rs1446076912
501 Q>* No ClinGen
gnomAD
TCGA novel 501 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4246264
rs757737951
502 L>H No ClinGen
ExAC
TOPMed
gnomAD
CA157951697
rs985881592
506 D>N No ClinGen
Ensembl
CA367417499
rs1258042505
507 K>N No ClinGen
gnomAD
CA367417493
rs1240278479
508 T>P No ClinGen
TOPMed
rs754150092
CA367417465
509 M>R No ClinGen
ExAC
TOPMed
gnomAD
rs754150092
CA4246263
509 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA367417475
rs1256080545
509 M>V No ClinGen
gnomAD
CA4246261
rs760750378
513 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs141469545
CA4246260
513 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs146602744
CA4246258
516 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4246259
rs372731729
516 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA367417337
rs1326242797
517 I>F No ClinGen
gnomAD
rs774318946
CA4246257
518 K>E No ClinGen
ExAC
gnomAD
rs1460482427
CA367417308
519 H>L No ClinGen
TOPMed
rs1464235643
CA367417276
522 G>R No ClinGen
gnomAD
TCGA novel 523 D>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762799551
CA4246255
523 D>Y No ClinGen
ExAC
gnomAD
CA367417251
rs1441462789
524 V>I No ClinGen
gnomAD
CA4246253
rs769495251
525 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA367416007
rs1583787704
527 S>C No ClinGen
Ensembl
CA4246229
rs533218684
528 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA4246228
rs749719081
530 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA367415953
rs1401499860
531 F>L No ClinGen
gnomAD
rs1453161607
CA367415940
531 F>L No ClinGen
TOPMed
CA157950527
rs201954673
531 F>Y No ClinGen
Ensembl
COSM1450968
rs371871174
CA4246226
533 D>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4246225
rs141050106
537 D>V No ClinGen
1000Genomes
ExAC
CA4246223
rs200445653
545 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs201539357
COSM1090016
CA4246224
545 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
CA4246221
rs766410449
548 Y>C No ClinGen
ExAC
gnomAD
rs1024637656
CA157950476
550 S>T No ClinGen
TOPMed
gnomAD
rs202090846
CA4246203
551 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA4246202
rs200200271
551 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs753691383
CA4246198
553 P>R No ClinGen
ExAC
gnomAD
CA367415524
rs1583787443
554 T>P No ClinGen
Ensembl
CA157950308
rs760936897
554 T>S No ClinGen
Ensembl
rs891772891
CA157950307
555 L>P No ClinGen
TOPMed
rs552543010
CA4246196
556 R>P No ClinGen
1000Genomes
ExAC
gnomAD
rs552543010
CA4246195
556 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs763941323
CA4246197
556 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs145495335
CA4246194
557 A>S No ClinGen
ESP
ExAC
gnomAD
CA157950281
rs761931000
558 M>T No ClinGen
Ensembl
rs149694733
CA4246192
560 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149694733
CA4246193
560 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1193470170
CA367415390
561 D>E No ClinGen
TOPMed
gnomAD
CA367415400
rs1168744426
561 D>G No ClinGen
TOPMed
CA4246189
rs777006572
562 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4246187
rs747346222
565 D>N No ClinGen
ExAC
gnomAD
CA157950263
rs751701889
566 I>M No ClinGen
Ensembl
CA4246186
rs61745695
567 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772326969
CA4246185
567 T>I No ClinGen
ExAC
gnomAD
CA4246184
rs745949471
568 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs1210310349
CA367415294
568 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1583787370
CA367415263
569 V>A No ClinGen
Ensembl
rs200887711
CA157950254
572 R>C No ClinGen
1000Genomes
CA4246183
rs200123999
572 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA4246182
COSM1736693
rs370788368
575 T>M Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA157950250
rs866120405
576 A>S No ClinGen
TOPMed
rs943989631
CA157950249
577 G>D No ClinGen
Ensembl
CA367415102
rs1311308515
581 K>E No ClinGen
gnomAD
rs777829367
CA4246180
583 S>C No ClinGen
ExAC
gnomAD
rs777829367
CA367415065
583 S>F No ClinGen
ExAC
gnomAD
rs756012247
CA4246179
585 V>M No ClinGen
ExAC
gnomAD
CA157950232
rs150942992
586 A>V No ClinGen
ESP
TOPMed
CA367415018
rs1583787319
588 V>G No ClinGen
Ensembl
CA4246178
rs752533714
589 E>K No ClinGen
ExAC
gnomAD
rs911328610
CA157950229
590 N>K No ClinGen
TOPMed
TCGA novel 590 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767130263
CA4246177
590 N>T No ClinGen
ExAC
gnomAD
rs759166174
CA4246176
592 A>V No ClinGen
ExAC
gnomAD
CA367414986
rs1438844982
594 K>E No ClinGen
TOPMed
gnomAD
rs757972664
CA4246156
595 E>G No ClinGen
ExAC
gnomAD
CA367414966
rs765921852
595 E>K No ClinGen
ExAC
gnomAD
CA4246157
rs765921852
595 E>Q No ClinGen
ExAC
gnomAD
CA4246154
rs764599025
596 P>L No ClinGen
ExAC
gnomAD
CA4246155
rs369047872
596 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373796173
CA4246151
599 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373796173
CA367414941
599 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs139803425
CA4246150
600 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774674442
CA4246149
600 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs774674442
CA367414934
600 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs1336583811
CA367414923
602 I>V No ClinGen
TOPMed
CA367414913
rs1219097435
603 K>R No ClinGen
TOPMed
rs1215495179
CA367414904
604 P>L No ClinGen
TOPMed
gnomAD
rs147398930
CA4246147
605 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs773363436
CA4246146
607 D>N No ClinGen
ExAC
gnomAD
rs769857146
CA4246145
609 V>G No ClinGen
ExAC
gnomAD
CA157949751
rs879939174
611 G>E No ClinGen
TOPMed
gnomAD
rs748075919
CA4246144
614 D>E No ClinGen
ExAC
gnomAD
TCGA novel
CA157949748
rs908201402
615 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
gnomAD
rs989352151
CA157949739
617 H>D No ClinGen
TOPMed
gnomAD
CA367414820
rs1562828257
617 H>P No ClinGen
Ensembl
rs754844310
CA4246142
619 R>C No ClinGen
ExAC
gnomAD
rs142790224
CA4246141
619 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA367414799
rs779817442
620 H>L No ClinGen
ExAC
gnomAD
CA4246140
rs779817442
620 H>P No ClinGen
ExAC
gnomAD
CA4246139
rs757988932
621 Q>* No ClinGen
ExAC
gnomAD
CA367414795
rs757988932
621 Q>E No ClinGen
ExAC
gnomAD
CA157949722
rs377158095
621 Q>L No ClinGen
ESP
TOPMed
gnomAD
CA4246138
rs749940574
622 V>I No ClinGen
ExAC
gnomAD
rs374130084
CA4246136
623 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs753295216
CA4246135
625 L>V No ClinGen
ExAC
gnomAD
CA4246134
rs140521361
627 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
CA367414737
rs1272594233
631 V>M No ClinGen
gnomAD
CA367414728
rs1385843364
632 R>T No ClinGen
gnomAD
rs1583786379
CA367414719
633 V>G No ClinGen
Ensembl
rs774564779
CA4246132
634 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA4246131
rs534900639
634 R>H No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 637 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367414696
rs1297786909
637 G>V No ClinGen
gnomAD
rs773455064
CA4246129
639 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs769943053
COSM85037
CA4246128
641 R>C pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs748148561
CA4246127
641 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs776700926
CA4246126
642 Q>H No ClinGen
ExAC
gnomAD
CA367414668
rs1380864406
642 Q>P No ClinGen
TOPMed
TCGA novel 644 Y>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA157949688
rs61745627
646 R>G No ClinGen
TOPMed
TCGA novel 647 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1446811882
CA367414627
649 L>V No ClinGen
gnomAD
rs774073573
CA4246082
650 R>S No ClinGen
ExAC
gnomAD
rs1002875673
CA157949437
651 Y>C No ClinGen
gnomAD
CA367414144
rs1583785810
653 M>K No ClinGen
Ensembl
rs149389953
CA4246081
655 C>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA367414104
rs748847640
656 E>G No ClinGen
ExAC
gnomAD
CA367414110
rs1323959118
656 E>K No ClinGen
gnomAD
rs748847640
CA4246080
656 E>V No ClinGen
ExAC
gnomAD
rs1172750599
CA367414059
659 W>* No ClinGen
gnomAD
CA4246077
rs747660390
661 N>S No ClinGen
ExAC
gnomAD
rs1583785756
CA367414014
662 H>P No ClinGen
Ensembl
CA4246075
rs758921507
662 H>Y No ClinGen
ExAC
gnomAD
rs1232979723
CA367413981
665 G>D No ClinGen
TOPMed
gnomAD
rs1232979723
CA367413983
665 G>V No ClinGen
TOPMed
gnomAD
CA4246073
rs779107157
666 S>Y No ClinGen
ExAC
gnomAD
rs1562827791
CA367413963
667 D>E No ClinGen
Ensembl
CA4246070
rs199839026
667 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1583785714
CA367413954
668 K>R No ClinGen
Ensembl
CA157949385
rs907176490
669 A>T No ClinGen
Ensembl
CA367413942
rs1349806459
669 A>V No ClinGen
gnomAD
CA4246069
rs756251983
670 A>T No ClinGen
ExAC
gnomAD
rs759400828
CA4246066
671 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs150202121
CA367413909
672 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs762785346
CA4246064
673 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA4246063
rs762785346
673 A>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 674 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367413878
rs1287875226
676 E>* No ClinGen
TOPMed
CA4246062
rs141505221
678 H>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4246060
rs145905005
679 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA367413838
rs145905005
679 G>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140643676
CA367413797
683 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs140643676
CA4246059
683 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs867414113
CA157949320
684 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA157949315
rs372082507
685 A>V No ClinGen
ESP
TOPMed
gnomAD
rs1486507372
CA367413758
686 F>L No ClinGen
gnomAD
CA367413745
rs1583785590
687 G>A No ClinGen
Ensembl
rs779453122
CA4246056
688 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1366444364
CA367413718
689 S>R No ClinGen
TOPMed
TCGA novel 692 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367413697
rs1339633300
692 F>V No ClinGen
gnomAD
CA4246055
rs576689841
694 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4246054
rs555267455
694 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA367413658
rs1372711574
695 S>L No ClinGen
gnomAD
rs777914591
CA4246053
695 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA367413654
rs1307454172
696 P>A No ClinGen
TOPMed
CA367413652
rs1376164203
696 P>L No ClinGen
TOPMed
rs767541462
CA4246050
697 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA4246051
rs767541462
697 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4246052
rs374399060
697 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754927435
CA4246049
698 T>I No ClinGen
ExAC
gnomAD
rs370683756
CA4246048
699 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1300322799
CA367413628
701 T>I No ClinGen
TOPMed
rs566058703
CA4246044
702 L>M No ClinGen
1000Genomes
ExAC
gnomAD
rs1583785472
CA367413622
702 L>Q No ClinGen
Ensembl
rs554354933
COSM1090014
CA4246043
706 R>* Variant assessed as Somatic; 0.0 impact. pancreas endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs776303594
CA367413577
706 R>P No ClinGen
ExAC
gnomAD
rs776303594
CA4246042
706 R>Q No ClinGen
ExAC
gnomAD
rs1476010542
CA367413567
707 A>V No ClinGen
gnomAD
CA4246041
rs768331568
708 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA4246040
rs746489100
708 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA157949256
rs761781014
709 L>F No ClinGen
gnomAD
CA367413551
rs1583785449
709 L>R No ClinGen
Ensembl
CA4246039
rs774789469
711 P>A No ClinGen
ExAC
CA4246012
rs747067198
721 W>R No ClinGen
ExAC
gnomAD
CA367413379
rs1195429620
722 R>Q No ClinGen
gnomAD
CA157949115
rs1015562480
723 G>S No ClinGen
TOPMed
CA157949110
rs776426213
723 G>V No ClinGen
Ensembl
CA157949101
rs1017395724
724 T>N No ClinGen
Ensembl
rs750424358
CA367413349
725 L>F No ClinGen
ExAC
gnomAD
CA4246008
rs371874192
726 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs753674854
CA4246006
728 W>G No ClinGen
ExAC
gnomAD
CA367413310
rs1349062821
729 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1349062821
CA367413311
729 R>G No ClinGen
gnomAD
rs763849651
CA4246005
729 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA367413308
rs763849651
729 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA157949086
rs1035079745
730 C>Y No ClinGen
TOPMed
CA4246004
rs367655783
731 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA367413291
rs760385721
731 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA4246003
rs760385721
731 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA157949075
rs367655783
731 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1583785040
CA367413289
732 R>G No ClinGen
Ensembl
rs1002272536
CA157949069
732 R>S No ClinGen
TOPMed
gnomAD
rs1398260523
CA367413254
735 A>V No ClinGen
gnomAD
CA367413251
rs1296111346
736 I>V No ClinGen
gnomAD
CA157949064
rs899535059
739 I>V No ClinGen
TOPMed
gnomAD
rs905006130
CA157949058
740 M>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
COSM292787
rs767004739
CA4246002
741 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs773745075
CA4246000
741 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs773745075
CA4246001
741 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs767004739
CA367413196
741 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA4245999
rs200693120
742 W>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4245997
rs529667295
744 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs149069497
CA4245998
744 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs768794653
CA4245996
746 H>Q No ClinGen
ExAC
gnomAD
rs1421091899
CA367413147
746 H>Y No ClinGen
gnomAD
rs745931480
CA4245992
749 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs772234800
CA4245993
749 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA367413108
rs1410016931
750 A>T No ClinGen
TOPMed
CA4245991
rs779052877
750 A>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 752 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA157949030
rs890157132
753 A>G No ClinGen
TOPMed
CA367413076
rs1444089465
753 A>S No ClinGen
gnomAD
rs879093489
CA157949028
754 E>A No ClinGen
Ensembl
rs749098280
CA4245989
755 L>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4245987
rs201003622
757 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs558918192
CA4245988
757 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4245986
rs752438917
758 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs781147464
CA157949009
758 R>P No ClinGen
TOPMed
gnomAD
CA157949012
rs781147464
758 R>Q No ClinGen
TOPMed
gnomAD
CA367413038
rs1159086719
759 F>L No ClinGen
gnomAD
CA367413023
rs1222879941
762 A>T No ClinGen
TOPMed
rs1455351826
CA367413018
762 A>V No ClinGen
TOPMed
gnomAD
CA367413015
rs1181665721
763 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs201440829
CA4245984
764 Q>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4245983
rs751052723
765 P>L No ClinGen
ExAC
gnomAD
CA367412994
rs1264792809
766 P>Q No ClinGen
TOPMed
CA367412993
rs1264792809
766 P>R No ClinGen
TOPMed
rs201481844
CA157949000
767 L>P No ClinGen
1000Genomes
TOPMed
CA367412982
rs1285492084
768 Y>C No ClinGen
TOPMed
gnomAD
rs764573392
CA4245979
769 G>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 769 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760917700
CA4245978
770 R>C No ClinGen
ExAC
gnomAD
rs145057132
CA4245977
770 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs760917700
CA367412972
770 R>S No ClinGen
ExAC
gnomAD
CA4245976
rs772172953
772 L>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 773 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1090013
CA4245975
rs745961199
775 P>L Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA367412931
rs1294886757
775 P>S No ClinGen
gnomAD
CA367412893
rs1318844733
779 A>V No ClinGen
TOPMed
gnomAD
CA367412868
rs1386511556
782 Q>* No ClinGen
gnomAD
rs1303072361
CA367412831
785 Q>* No ClinGen
TOPMed
CA4245974
rs774503919
786 D>G No ClinGen
ExAC
gnomAD
rs1583784732
CA367412806
787 T>A No ClinGen
Ensembl
rs1583784732
CA367412807
787 T>P No ClinGen
Ensembl
rs755972612
CA4245971
790 A>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs755972612
CA4245970
790 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4245969
rs375304069
790 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1562827158
CA367412757
791 L>V No ClinGen
Ensembl
rs1468506073
CA367412661
794 R>S No ClinGen
TOPMed
gnomAD
CA367412638
rs371969345
796 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs371969345
CA4245951
796 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs769604336
CA4245952
796 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA367412636
rs1450719753
797 A>T No ClinGen
gnomAD
CA4245950
rs2107737
VAR_050212
798 R>Q No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA157948765
rs922704991
798 R>W No ClinGen
gnomAD
rs61739437
CA157948760
801 V>E No ClinGen
Ensembl
rs61739437
CA367412584
801 V>G No ClinGen
Ensembl
rs768320893
CA4245949
801 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA367412552
rs1460527341
803 N>S No ClinGen
TOPMed
rs1562826853
CA367412514
805 P>L No ClinGen
Ensembl
CA4245947
rs779650578
806 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA367412512
rs779650578
806 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA367412508
rs779650578
806 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs368207989
CA4245944
808 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 810 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367412393
rs1428144697
814 A>V No ClinGen
TOPMed
gnomAD
rs753134009
CA4245941
818 A>T No ClinGen
ExAC
gnomAD
CA4245940
rs767722811
819 M>I No ClinGen
ExAC
gnomAD
rs1018838361
CA157948750
819 M>T No ClinGen
Ensembl
CA4245939
rs147841026
820 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA367412327
rs1157193899
821 A>T No ClinGen
gnomAD
rs1477482958
CA367412319
821 A>V No ClinGen
gnomAD
rs1481924599
CA367412285
824 G>E No ClinGen
gnomAD
rs1201850845
CA367412270
826 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA4245937
rs751867377
826 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA4245936
rs766703139
827 Q>K No ClinGen
ExAC
gnomAD
CA4245935
rs199820812
828 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1477062526
CA367412255
828 D>N No ClinGen
gnomAD
rs1189053185
CA367412239
829 W>* No ClinGen
TOPMed
rs958286103
CA157948729
832 R>* No ClinGen
TOPMed
rs572778883
CA4245934
832 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs769773795
CA367412199
833 R>G No ClinGen
ExAC
gnomAD
rs761609063
CA4245932
833 R>Q No ClinGen
ExAC
gnomAD
rs769773795
CA4245933
833 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1313909453
CA367412186
834 A>D No ClinGen
gnomAD
rs1350229971
CA367412191
834 A>T No ClinGen
gnomAD
rs1408107500
CA573821578
835 W>* No ClinGen
gnomAD
rs768480261
CA4245931
837 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA4245930
rs768480261
837 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA4245929
rs751614152
837 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4245928
rs779744480
838 D>N No ClinGen
ExAC
gnomAD
CA367412127
rs1471428885
839 Y>* No ClinGen
gnomAD
rs906170459
CA157948715
840 L>V No ClinGen
TOPMed
rs1250794799
CA367412110
841 S>Y No ClinGen
gnomAD
rs144525470
CA4245908
846 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4245907
rs745459946
848 T>A No ClinGen
ExAC
gnomAD
rs774029585
CA4245906
848 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA367411540
rs1450276600
849 A>V No ClinGen
TOPMed
rs1215666929
CA367411519
851 S>R No ClinGen
TOPMed
gnomAD
rs770384569
CA4245905
853 F>S No ClinGen
ExAC
TOPMed
gnomAD
CA157946664
rs753768198
854 A>T No ClinGen
Ensembl
rs1216383376
CA367411485
855 Q>E No ClinGen
TOPMed
CA157946662
rs1016309315
856 R>* No ClinGen
TOPMed
CA367411469
rs1387314884
856 R>L No ClinGen
gnomAD
rs1326102385
CA367411467
857 L>V No ClinGen
gnomAD
rs1366463453
CA367411437
860 L>V No ClinGen
gnomAD
rs139568291
CA4245903
861 Q>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA367411429
rs139568291
861 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA367411422
rs7792760
861 Q>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA367411425
rs7792760
861 Q>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_044015
CA4245902
rs7792760
861 Q>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs747380693
CA4245901
862 D>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 862 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4245899
rs142328697
864 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs757339463
COSM3950548
CA4245897
866 F>L lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA4245894
rs148751315
COSM1090009
CA4245895
867 G>R endometrium [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs752108220
CA157946652
868 A>P No ClinGen
gnomAD
rs1363795702
CA367411306
872 S>* No ClinGen
gnomAD
CA367411312
rs1228340465
872 S>T No ClinGen
gnomAD
rs775289616
CA4245892
874 H>Q No ClinGen
ExAC
gnomAD
CA4245893
rs760569666
874 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1562826388
CA367411275
875 V>I No ClinGen
Ensembl
CA4245891
rs767347183
876 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4245890
rs759342282
876 R>H No ClinGen
ExAC
gnomAD
rs777783175
CA4245877
880 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
COSM1450965
CA4245876
rs199620741
880 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 881 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367411124
rs1583783239
882 H>R No ClinGen
Ensembl
CA367411108
rs1181978067
883 K>R No ClinGen
gnomAD
CA367411074
rs1284165978
885 R>Q No ClinGen
TOPMed
CA367411079
COSM1450964
rs1486210938
885 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs867877691
CA157946586
887 R>L No ClinGen
Ensembl
rs773744055
CA157946587
887 R>W No ClinGen
Ensembl
CA4245874
rs767481349
889 L>F No ClinGen
ExAC
gnomAD
rs1254946866
CA367411006
890 L>M No ClinGen
gnomAD
TCGA novel 891 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4245872
rs751310560
893 D>E No ClinGen
ExAC
gnomAD
CA4245873
rs144298882
893 D>N No ClinGen
ESP
ExAC
gnomAD
CA4245871
rs765950897
894 Q>K No ClinGen
ExAC
gnomAD
CA367410946
rs1340881232
895 H>Y No ClinGen
gnomAD
rs1336041844
CA367410904
897 Y>* No ClinGen
gnomAD
CA157946585
rs1038872506
899 L>M No ClinGen
TOPMed
gnomAD
rs1038872506
CA367410871
899 L>V No ClinGen
TOPMed
gnomAD
rs1401543677
CA367410863
900 D>H No ClinGen
TOPMed
gnomAD
TCGA novel 901 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367410845
rs1159284144
901 P>T No ClinGen
gnomAD
rs201502354
CA4245869
903 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs762624367
CA367410810
903 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs142730861
CA367410745
906 R>G No ClinGen
ESP
TOPMed
gnomAD
CA157946577
rs138226470
906 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138226470
CA4245867
906 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142730861
CA157946581
906 R>W No ClinGen
ESP
TOPMed
gnomAD
CA367410728
rs1186009627
907 V>L No ClinGen
gnomAD
CA367410689
rs776197319
909 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA4245865
rs370778515
909 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs776197319
CA4245866
909 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA367410681
rs1562826166
910 A>T No ClinGen
Ensembl
rs1208746512
CA367410671
910 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
COSM1450963
rs376350486
CA4245863
911 V>M large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA367410643
rs1356765158
913 L>F No ClinGen
TOPMed
gnomAD
rs1356765158
CA367410644
913 L>V No ClinGen
TOPMed
gnomAD
CA157946568
rs77923458
914 E>D No ClinGen
gnomAD
rs1242509039
CA367410624
914 E>G No ClinGen
gnomAD
CA4245862
rs771083602
914 E>Q No ClinGen
ExAC
gnomAD
CA367410613
rs1321152441
915 A>T No ClinGen
gnomAD
rs368999334
CA4245861
915 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA367410542
rs1351776427
916 V>L No ClinGen
gnomAD
CA367410512
rs1405102020
917 T>M No ClinGen
gnomAD
rs764970920
CA4245850
917 T>P No ClinGen
ExAC
gnomAD
CA4245847
rs772491166
921 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA367410438
rs1387776613
922 T>I No ClinGen
gnomAD
CA367410434
rs1353746152
923 S>G No ClinGen
TOPMed
CA367410414
rs1185486091
924 G>* No ClinGen
gnomAD
rs1478075228
CA367410407
924 G>V No ClinGen
gnomAD
CA157946250
rs977371992
929 V>M No ClinGen
Ensembl
rs1181024277
CA367410277
932 H>Q No ClinGen
TOPMed
gnomAD
rs1482164079
CA367410260
933 A>G No ClinGen
gnomAD
CA367410257
rs774701688
934 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1207172570
CA367410251
934 R>H No ClinGen
gnomAD
CA4245845
rs774701688
934 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1340040142
CA367410220
936 Q>L No ClinGen
TOPMed
gnomAD
CA4245844
rs771364309
937 D>N No ClinGen
ExAC
gnomAD
CA367410176
rs1369859906
938 D>E No ClinGen
TOPMed
gnomAD
CA367410151
rs749646679
940 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA4245843
rs749646679
940 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs910515874
CA157946248
945 R>S No ClinGen
TOPMed
gnomAD
CA4245842
rs778023178
946 S>F No ClinGen
ExAC
CA367410012
rs1370419817
948 P>S No ClinGen
gnomAD
rs748229958
CA4245840
950 L>* No ClinGen
ExAC
TOPMed
rs748229958
CA367409981
950 L>S No ClinGen
ExAC
TOPMed
CA367409938
rs1246359058
952 N>K No ClinGen
gnomAD
rs1177427572
CA367409943
952 N>S No ClinGen
gnomAD
rs1562825544
CA367409931
953 R>H No ClinGen
Ensembl
CA367409920
rs1414502760
954 V>A No ClinGen
TOPMed
gnomAD
CA367409918
rs1414502760
954 V>G No ClinGen
TOPMed
gnomAD
TCGA novel 956 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1562825522
CA367409862
960 V>M No ClinGen
Ensembl
rs1407433110
CA367409831
963 A>T No ClinGen
TOPMed
rs1252259218
CA367409803
964 H>Q No ClinGen
gnomAD
CA367409812
rs1479928529
964 H>R No ClinGen
gnomAD
CA367409790
rs1455063471
965 C>Y No ClinGen
TOPMed
CA157946246
rs952104150
966 Q>R No ClinGen
TOPMed
gnomAD
rs1250935031
CA367409753
967 G>E No ClinGen
TOPMed
gnomAD
CA4245837
rs754892218
967 G>R No ClinGen
ExAC
gnomAD
CA367409686
rs1230522419
969 G>S No ClinGen
TOPMed
gnomAD
CA4245827
rs774987012
970 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA367409663
rs1302781130
970 R>L No ClinGen
gnomAD
rs1451229061
CA367409652
971 T>S No ClinGen
gnomAD
rs1388762320
CA367409604
975 R>P No ClinGen
gnomAD
CA367409471
rs1425346013
984 H>L No ClinGen
TOPMed
gnomAD
CA367409473
rs1425346013
984 H>R No ClinGen
TOPMed
gnomAD
CA4245825
rs763316184
984 H>Y No ClinGen
ExAC
gnomAD
CA367409455
rs1344279544
986 G>E No ClinGen
TOPMed
rs865914185
CA367409458
986 G>R No ClinGen
gnomAD
rs865914185
CA157946240
986 G>W No ClinGen
gnomAD
CA4245823
rs770033987
988 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA367409423
rs1207021393
989 R>G No ClinGen
gnomAD
CA367409400
rs1485703100
990 L>F No ClinGen
gnomAD
CA367409379
rs1487400233
991 I>M No ClinGen
TOPMed
CA4245821
rs776693838
994 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA367409281
rs1236319681
997 P>R No ClinGen
TOPMed
gnomAD
CA4245819
rs577889210
1000 P>L No ClinGen
1000Genomes
ExAC
gnomAD
rs768849060
CA367409230
1000 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs768849060
CA4245820
1000 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs112599733
CA157946239
1001 E>G No ClinGen
Ensembl
rs758345029
CA4245817
1002 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs200958914
CA367409184
1003 D>N No ClinGen
ESP
ExAC
TOPMed
CA4245816
rs200958914
1003 D>Y No ClinGen
ESP
ExAC
TOPMed
TCGA novel 1004 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757098246
CA4245814
1008 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs753570242
CA4245813
1009 G>D No ClinGen
ExAC
gnomAD
CA367409082
rs1293753063
1009 G>S No ClinGen
TOPMed
gnomAD
rs1388269566
CA367409045
1011 F>Y No ClinGen
TOPMed
CA157946238
rs888765654
1012 T>S No ClinGen
gnomAD
CA367409019
rs1330404740
1013 L>V No ClinGen
TOPMed
rs766872839
CA4245809
1017 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA367408911
rs1428001335
1018 R>C No ClinGen
gnomAD
rs1351598742
CA367408902
1018 R>L No ClinGen
TOPMed

No associated diseases with B0I1T2

2 regional properties for B0I1T2

Type Name Position InterPro Accession
domain Protein kinase domain 68 - 361 IPR000719
binding_site Protein kinase, ATP binding site 74 - 97 IPR017441

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Peripheral membrane protein
  • Cell projection, phagocytic cup
  • Recruited to Fc-gamma receptor (Fc-gamma-R) phagocytic cup
  • In T-cells, transiently accumulates in discrete areas at the plasma membrane of migrating cells or when membranes are deformed (By similarity)
  • Localization at the membrane is not highly dependent on phosphatidylinositol 4,5-bisphosphate levels
  • Released from the membrane in the presence of ATP
  • May be enriched in peripheral processes, such as microvilli or ruffles
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

11 GO annotations of cellular component

Name Definition
actin cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
filopodium Thin, stiff, actin-based protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal or dendritic growth cone, or a dendritic shaft.
lamellipodium A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
leading edge membrane The portion of the plasma membrane surrounding the leading edge of a motile cell.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
microvillus Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells.
myosin complex A protein complex, formed of one or more myosin heavy chains plus associated light chains and other proteins, that functions as a molecular motor; uses the energy of ATP hydrolysis to move actin filaments or to move vesicles or other cargo on fixed actin filaments; has magnesium-ATPase activity and binds actin. Myosin classes are distinguished based on sequence features of the motor, or head, domain, but also have distinct tail regions that are believed to bind specific cargoes.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
phagocytic cup An invagination of the cell membrane formed by an actin dependent process during phagocytosis. Following internalization it is converted into a phagosome.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

7 GO annotations of molecular function

Name Definition
actin filament binding Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
calmodulin binding Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
microfilament motor activity A motor activity that generates movement along a microfilament, driven by ATP hydrolysis.
phosphatidylinositol-3,4,5-trisphosphate binding Binding to phosphatidylinositol-3,4,5-trisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3', 4' and 5' positions.
phosphatidylinositol-3,4-bisphosphate binding Binding to phosphatidylinositol-3,4-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3' and 4' positions.
phosphatidylinositol-4,5-bisphosphate binding Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions.

9 GO annotations of biological process

Name Definition
actin filament organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments. Includes processes that control the spatial distribution of actin filaments, such as organizing filaments into meshworks, bundles, or other structures, as by cross-linking.
cell gliding Cell motility that results in the smooth movement of a cell along a solid surface.
cell-substrate adhesion The attachment of a cell to the underlying substrate via adhesion molecules.
exocytosis A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell.
Fc-gamma receptor signaling pathway involved in phagocytosis An Fc-gamma receptor signaling pathway that contributes to the endocytic engulfment of external particulate material by phagocytes.
T cell meandering migration The random-like motility observed for T cells in lymph nodes which enhances surveillance of antigens presented by major histocompatibility complex (MHC) molecules on antigen presenting cells (APCs).
T cell mediated immunity Any process involved in the carrying out of an immune response by a T cell.
T cell migration The movement of a T cell within or between different tissues and organs of the body.
vesicle transport along actin filament Movement of a vesicle along an actin filament, mediated by motor proteins.

17 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q27991 MYH10 Myosin-10 Bos taurus (Bovine) SS
Q02440 MYO5A Unconventional myosin-Va Gallus gallus (Chicken) SS
Q5U651 RASIP1 Ras-interacting protein 1 Homo sapiens (Human) PR
P35580 MYH10 Myosin-10 Homo sapiens (Human) SS
Q12965 MYO1E Unconventional myosin-Ie Homo sapiens (Human) PR
O00160 MYO1F Unconventional myosin-If Homo sapiens (Human) PR
Q9UM54 MYO6 Unconventional myosin-VI Homo sapiens (Human) EV
Q9Y4I1 MYO5A Unconventional myosin-Va Homo sapiens (Human) SS
Q9NQX4 MYO5C Unconventional myosin-Vc Homo sapiens (Human) SS
Q9ULV0 MYO5B Unconventional myosin-Vb Homo sapiens (Human) SS
Q3U0S6 Rasip1 Ras-interacting protein 1 Mus musculus (Mouse) PR
P21271 Myo5b Unconventional myosin-Vb Mus musculus (Mouse) SS
Q61879 Myh10 Myosin-10 Mus musculus (Mouse) SS
Q99104 Myo5a Unconventional myosin-Va Mus musculus (Mouse) EV
P70569 Myo5b Unconventional myosin-Vb Rattus norvegicus (Rat) SS
Q9JLT0 Myh10 Myosin-10 Rattus norvegicus (Rat) SS
Q9M2K0 XI-J Myosin-16 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MEDEEGPEYG KPDFVLLDQV TMEDFMRNLQ LRFEKGRIYT YIGEVLVSVN PYQELPLYGP
70 80 90 100 110 120
EAIARYQGRE LYERPPHLYA VANAAYKAMK HRSRDTCIVI SGESGAGKTE ASKHIMQYIA
130 140 150 160 170 180
AVTNPSQRAE VERVKDVLLK STCVLEAFGN ARTNRNHNSS RFGKYMDINF DFKGDPIGGH
190 200 210 220 230 240
IHSYLLEKSR VLKQHVGERN FHAFYQLLRG SEDKQLHELH LERNPAVYNF THQGAGLNMT
250 260 270 280 290 300
VHSALDSDEQ SHQAVTEAMR VIGFSPEEVE SVHRILAAIL HLGNIEFVET EEGGLQKEGL
310 320 330 340 350 360
AVAEEALVDH VAELTATPRD LVLRSLLART VASGGRELIE KGHTAAEASY ARDACAKAVY
370 380 390 400 410 420
QRLFEWVVNR INSVMEPRGR DPRRDGKDTV IGVLDIYGFE VFPVNSFEQF CINYCNEKLQ
430 440 450 460 470 480
QLFIQLILKQ EQEEYEREGI TWQSVEYFNN ATIVDLVERP HRGILAVLDE ACSSAGTITD
490 500 510 520 530 540
RIFLQTLDMH HRHHLHYTSR QLCPTDKTME FGRDFRIKHY AGDVTYSVEG FIDKNRDFLF
550 560 570 580 590 600
QDFKRLLYNS TDPTLRAMWP DGQQDITEVT KRPLTAGTLF KNSMVALVEN LASKEPFYVR
610 620 630 640 650 660
CIKPNEDKVA GKLDENHCRH QVAYLGLLEN VRVRRAGFAS RQPYSRFLLR YKMTCEYTWP
670 680 690 700 710 720
NHLLGSDKAA VSALLEQHGL QGDVAFGHSK LFIRSPRTLV TLEQSRARLI PIIVLLLQKA
730 740 750 760 770 780
WRGTLARWRC RRLRAIYTIM RWFRRHKVRA HLAELQRRFQ AARQPPLYGR DLVWPLPPAV
790 800 810 820 830 840
LQPFQDTCHA LFCRWRARQL VKNIPPSDMP QIKAKVAAMG ALQGLRQDWG CRRAWARDYL
850 860 870 880 890 900
SSATDNPTAS SLFAQRLKTL QDKDGFGAVL FSSHVRKVNR FHKIRNRALL LTDQHLYKLD
910 920 930 940 950 960
PDRQYRVMRA VPLEAVTGLS VTSGGDQLVV LHARGQDDLV VCLHRSRPPL DNRVGELVGV
970 980 990 1000 1010
LAAHCQGEGR TLEVRVSDCI PLSHRGVRRL ISVEPRPEQP EPDFRCARGS FTLLWPSR