Descriptions

KIF21B, a microtubule(MT)-plus-end directed kinesin-4 motor protein, is mainly expressed in spleen, testes and central nervous tissues, particularly enriched in neurons and contains an N-terminal motor domain followed by several coiled coils and a C-terminal WD40 domain. Within neurons, KIF21B promotes intracellular transport through its N-terminal processive motor activity and influences MT dynamics through distinct MT binding domains. KIF21B positively regulates MTs dynamicity in dendrites by favoring MT growth and catastrophes and also acts as a MT pausing factor by accumulating at the MT-plus ends. These KIF21B functions can be modulated through an autoinhibitory interaction between the N-terminal motor domain and an internal regulatory coiled-coil region (rCC). Mutations within the coiled-coil region are associated with autoinhibitory release, which leads to failure of the fine-tuning of KIF21B activity, resulting in defects in proper neuronal migration and axonal growth.

Autoinhibitory domains (AIDs)

Target domain

6-378 (Kinesin motor domain)

Relief mechanism

Assay

Deletion assay, Mutagenesis experiment

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for O75037

Entry ID Method Resolution Chain Position Source
AF-O75037-F1 Predicted AlphaFoldDB

1294 variants for O75037

Variant ID(s) Position Change Description Diseaes Association Provenance
CA204299
rs750865418
RCV000190240
RCV001836749
742 E>K Long QT syndrome [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs796052152
RCV000190139
CA204080
1201 R>W Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] Yes ClinGen
ClinVar
NCI-TCGA
dbSNP
gnomAD
rs1029285127
CA35975356
2 A>D No ClinGen
gnomAD
CA1321776
rs750359794
3 G>V No ClinGen
ExAC
gnomAD
CA344123735
rs1451627271
5 G>E No ClinGen
TOPMed
gnomAD
CA35975353
rs996349208
6 D>H No ClinGen
gnomAD
rs1558035079
CA344123712
6 D>V No ClinGen
Ensembl
rs996349208
CA344123727
6 D>Y No ClinGen
gnomAD
rs1177171694
CA344123671
8 C>S No ClinGen
TOPMed
rs781118204
CA344123635
CA1321775
10 K>N No ClinGen
ExAC
gnomAD
CA1321773
rs752880116
13 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA344123586
rs1455388304
13 V>I No ClinGen
gnomAD
CA344123544
rs1485658917
14 R>K No ClinGen
gnomAD
CA344120886
rs1481800612
16 R>Q No ClinGen
TOPMed
rs147750916
CA35972478
19 L>P No ClinGen
ESP
rs1368561142
CA344120798
20 S>L No ClinGen
gnomAD
rs554431322
CA1321753
20 S>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1172863230
CA344120700
23 K>N No ClinGen
gnomAD
rs923595555
CA35972472
25 E>G No ClinGen
TOPMed
CA344120655
rs1422263786
25 E>K No ClinGen
TOPMed
gnomAD
CA344120649
rs1422263786
25 E>Q No ClinGen
TOPMed
gnomAD
rs754140661
CA1321752
26 G>V No ClinGen
ExAC
gnomAD
TCGA novel 27 C>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs766637667
CA1321751
28 H>D No ClinGen
ExAC
gnomAD
rs200017982
CA1321750
29 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA344120554
rs1352288891
31 T>P No ClinGen
gnomAD
rs758985738
CA35972438
32 S>F No ClinGen
TOPMed
gnomAD
rs1558025851
CA344120503
34 T>I No ClinGen
Ensembl
CA1321747
rs565712809
35 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1321748
rs565712809
35 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 36 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1320588 38 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1242227998
CA344120433
38 P>T No ClinGen
gnomAD
rs1293380136
CA344120331
44 K>R No ClinGen
gnomAD
rs762383604
CA1321744
47 A>V No ClinGen
ExAC
gnomAD
rs1348581247
CA344120210
49 T>I No ClinGen
gnomAD
rs1348581247
CA344120207
49 T>N No ClinGen
gnomAD
rs764651949
CA35972420
51 D>E No ClinGen
TOPMed
gnomAD
CA344120086
rs1165774872
55 D>E No ClinGen
gnomAD
rs376966681
CA344120092
55 D>H No ClinGen
ESP
ExAC
gnomAD
CA1321740
rs376966681
55 D>N No ClinGen
ESP
ExAC
gnomAD
CA344120040
rs1339896138
58 T>S No ClinGen
TOPMed
rs1362104291
CA344120036
59 W>R No ClinGen
gnomAD
COSM1127191
COSM4876650
62 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA1321738
rs746986910
63 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA35972400
rs912118630
64 Y>* No ClinGen
TOPMed
gnomAD
rs755110188
CA1321736
66 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs374878271
CA1321735
68 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1321734
rs780281131
69 S>R No ClinGen
ExAC
gnomAD
rs750591931
CA1321733
72 I>M No ClinGen
ExAC
gnomAD
rs781638599
CA1321731
73 E>K No ClinGen
ExAC
gnomAD
rs757523921
CA1321730
74 G>A No ClinGen
ExAC
gnomAD
rs1239756217
CA344119856
75 C>G No ClinGen
gnomAD
CA35972369
rs375409133
76 F>C No ClinGen
ESP
TOPMed
gnomAD
rs371235927
CA1321728
77 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1321727
rs763437965
78 G>V No ClinGen
ExAC
gnomAD
rs764621053
CA1321725
79 Y>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 80 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1158062077
CA344119741
81 A>G No ClinGen
gnomAD
CA1321724
rs759281080
82 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 83 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 83 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1454078531
CA344119682
87 G>R No ClinGen
gnomAD
COSM6123694
COSM6123695
88 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1225831423
CA344119050
COSM902052
COSM4866431
89 T>M Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
TCGA novel 90 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 91 A>P Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
CA1321694
rs747201044
COSM240404
92 G>R prostate [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs372348797
CA1321692
94 T>S No ClinGen
ESP
ExAC
COSM3481382
COSM4904044
97 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs765944215
CA1321690
97 M>V No ClinGen
ExAC
gnomAD
rs754527351
CA1321689
99 T>A No ClinGen
ExAC
gnomAD
rs1175939787
CA344118762
99 T>I No ClinGen
gnomAD
TCGA novel 100 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1337763
COSM4784171
103 M>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs753342023
CA1321688
105 T>A No ClinGen
ExAC
gnomAD
rs150551633
CA1321687
105 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs140589352
CA1321685
106 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1321683
rs761636522
107 E>D No ClinGen
ExAC
gnomAD
CA35971942
rs890787236
109 E>G No ClinGen
TOPMed
COSM4026863
COSM4026864
109 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1485965385
CA344118321
113 I>V No ClinGen
gnomAD
CA1321682
rs369827699
114 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
CA1321681
rs369827699
114 P>Q No ClinGen
ESP
ExAC
gnomAD
CA344118267
rs1306746485
115 R>K No ClinGen
gnomAD
CA35971929
rs374795746
116 A>T No ClinGen
ESP
gnomAD
rs922165535
CA35971923
118 A>G No ClinGen
TOPMed
rs770974908
COSM3803423
CA1321678
COSM209457
118 A>T Variant assessed as Somatic; MODERATE impact. large_intestine prostate breast [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs773381121
CA1321676
120 L>F No ClinGen
ExAC
gnomAD
COSM902050
COSM4871096
120 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA344118088
rs1172107154
122 G>R No ClinGen
TOPMed
rs1315405620
CA344118058
123 G>D No ClinGen
gnomAD
rs779319005
CA1321674
125 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA1321673
rs779319005
125 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA344117998
rs749783399
126 E>K No ClinGen
ExAC
gnomAD
rs749783399
CA1321671
126 E>Q No ClinGen
ExAC
gnomAD
COSM3746718
CA1321670
rs745970550
127 R>C liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA1321669
rs142552201
127 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1321668
rs371216148
128 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767222970
CA1321667
128 K>R No ClinGen
ExAC
gnomAD
rs756959465
CA1321666
129 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA1321665
rs751378411
129 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM6123697
COSM6123696
130 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs368134803
COSM1255821
CA1321663
130 R>Q oesophagus [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA1321664
rs763920274
130 R>W No ClinGen
ExAC
gnomAD
CA1321662
rs141541631
131 A>T No ClinGen
ESP
ExAC
gnomAD
CA344117833
rs1310662037
132 Q>H No ClinGen
TOPMed
CA1321661
rs142277557
132 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1017818410
CA35971819
134 Q>K No ClinGen
Ensembl
CA1321659
rs773434079
135 G>D No ClinGen
ExAC
gnomAD
CA1321660
rs538789987
135 G>S No ClinGen
1000Genomes
ExAC
gnomAD
rs371110975
CA1321657
136 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1391879484
CA344117699
137 A>V No ClinGen
gnomAD
rs1461619167
CA344117690
138 G>E No ClinGen
TOPMed
gnomAD
rs1324852358
CA344117691
138 G>R No ClinGen
gnomAD
CA1321656
rs774615602
140 E>A No ClinGen
ExAC
gnomAD
TCGA novel 140 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA344117559
rs1558024896
141 F>L No ClinGen
Ensembl
rs372026817
CA1321655
144 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1321653
rs368704611
145 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA35971762
rs896277805
145 A>V No ClinGen
gnomAD
COSM3481381
COSM4893488
149 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA35969226
rs905642139
150 L>P No ClinGen
TOPMed
CA35969222
rs57838980
152 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs202167673
CA35969224
152 N>S No ClinGen
Ensembl
rs948674050
CA35969203
154 E>D No ClinGen
Ensembl
rs1299490919
CA344116110
154 E>G No ClinGen
gnomAD
TCGA novel 156 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA344116030
rs1571956668
157 D>A No ClinGen
Ensembl
rs1370253259
CA344115956
160 D>Y No ClinGen
TOPMed
COSM902049
COSM4872636
161 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs780898657
COSM3728141
CA1321632
162 T>N haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1571956640
CA344115920
162 T>P No ClinGen
Ensembl
rs1174051997
CA344115881
163 R>C No ClinGen
gnomAD
CA1321631
rs574223570
163 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1174051997
COSM1500503
CA344115887
COSM6123699
COSM6123698
163 R>S lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs746670892
CA1321630
164 D>A No ClinGen
ExAC
TOPMed
gnomAD
rs777415452
CA1321629
165 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs777415452
CA344115828
165 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs752543544
CA1321627
167 T>I No ClinGen
ExAC
gnomAD
CA344115761
rs1571956574
167 T>P No ClinGen
Ensembl
CA1321626
rs778672911
168 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA1321625
rs754943866
168 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs754943866
CA344115732
168 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs753749629
CA1321624
170 R>C No ClinGen
ExAC
CA1321623
rs201113105
170 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201113105
CA344115678
170 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA344115670
rs1282935526
171 R>K No ClinGen
TOPMed
gnomAD
rs1212089147
CA344115660
172 S>P No ClinGen
gnomAD
CA35969105
rs868128266
178 E>K No ClinGen
gnomAD
rs751746820
CA1321621
179 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA1321619
rs763083427
179 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA344115494
rs751746820
179 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs776039428
CA344115458
180 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs776039428
CA1321618
180 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs139624974
CA1321617
181 N>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA344115386
rs1313449503
182 G>S No ClinGen
TOPMed
gnomAD
rs777236820
CA1321615
183 G>D No ClinGen
ExAC
gnomAD
rs1462024814
CA344115260
186 T>S No ClinGen
TOPMed
CA344115246
rs1295545154
187 T>I No ClinGen
TOPMed
rs771821901
CA1321611
189 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs771821901
CA344115223
189 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs747765335
CA344115169
190 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA1321610
rs747765335
190 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs778836144
CA35969060
191 S>C No ClinGen
TOPMed
CA35969056
rs778836144
191 S>F No ClinGen
TOPMed
CA1321609
COSM4905610
COSM3481378
rs778724409
192 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
CA1321608
rs754732012
COSM4026860
COSM4026859
192 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
TCGA novel 194 I>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1326854066
CA344115071
194 I>M No ClinGen
Ensembl
rs1426068839
CA344115019
195 H>Q No ClinGen
gnomAD
CA1321607
rs141640757
195 H>Y No ClinGen
ESP
ExAC
rs987054249
CA35969035
196 S>P No ClinGen
Ensembl
CA344114954
rs954474230
198 E>D No ClinGen
TOPMed
gnomAD
rs1246329410
CA344114945
199 E>K No ClinGen
TOPMed
CA344114824
rs1480284054
200 L>M No ClinGen
gnomAD
TCGA novel 201 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs747818334
CA344114720
203 C>G No ClinGen
ExAC
TOPMed
gnomAD
CA1321592
rs747818334
203 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs1467750198
CA344114667
205 K>N No ClinGen
gnomAD
rs375811791
CA35968912
206 Q>* No ClinGen
ESP
TOPMed
CA344114650
rs1571956158
206 Q>R No ClinGen
Ensembl
CA1321590
rs768455687
208 A>T No ClinGen
ExAC
gnomAD
TCGA novel 208 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA344114571
rs1260036392
210 S>Y No ClinGen
gnomAD
rs1378904806
CA344114554
COSM4781928
COSM3400186
211 R>C Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs756118030
CA1321588
211 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA1321587
rs756118030
211 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA344114506
rs1370448336
214 A>D No ClinGen
gnomAD
rs1438986304
CA344114509
214 A>T No ClinGen
gnomAD
TCGA novel 215 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA1321586
rs745771628
217 Q>E No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 217 Q>H Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs777932365
CA1321585
219 N>S No ClinGen
ExAC
gnomAD
CA1321583
rs147387128
220 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA344114249
rs1420827272
224 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA344114245
rs1382624794
224 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
COSM6123700
COSM6123701
224 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM4906208
COSM3481377
225 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA1321582
rs765495506
225 S>P No ClinGen
ExAC
gnomAD
rs200374473
CA344114191
226 H>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM4026857
COSM4026858
rs1200416395
CA344114190
227 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
NCI-TCGA
gnomAD
CA344114181
rs1444824304
227 A>V No ClinGen
gnomAD
rs1438761868
CA344114148
229 F>S No ClinGen
Ensembl
CA1321580
rs754294777
231 I>V No ClinGen
ExAC
gnomAD
CA1321579
rs139587088
232 H>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs755531305
CA1321578
236 M>R No ClinGen
ExAC
gnomAD
CA1321577
rs773539819
237 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA1321576
rs767082564
237 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA344114014
COSM400944
rs767082564
237 R>L lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs773539819
CA344114027
237 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA1321575
rs761258584
239 C>R No ClinGen
ExAC
gnomAD
rs201594775
CA1321573
240 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1317720189
CA344113913
241 Q>R No ClinGen
gnomAD
TCGA novel 243 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA1321570
rs151270657
243 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1321569
rs201624271
244 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1336478996
CA344113017
245 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA1321552
rs759901677
248 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1571955379
CA344112944
249 V>G No ClinGen
Ensembl
CA1321550
rs769636295
249 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1284855658
CA344112890
251 G>E No ClinGen
TOPMed
CA344112809
rs924771118
254 D>A No ClinGen
gnomAD
CA35968448
rs924771118
254 D>G No ClinGen
gnomAD
COSM3864069
COSM3864068
254 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs776472486
CA1321547
255 G>S No ClinGen
ExAC
gnomAD
CA1321546
rs143968787
256 T>I No ClinGen
ESP
ExAC
gnomAD
rs1199476738
CA344112679
257 P>L No ClinGen
gnomAD
rs746912144
CA1321545
257 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs746912144
CA344112708
257 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs971598271
CA35968426
258 P>A No ClinGen
gnomAD
rs779179528
CA1321544
258 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs971598271
CA344112676
258 P>T No ClinGen
gnomAD
rs141814113
CA1321543
259 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1473248
COSM4813857
259 S>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA344112625
rs1485307904
260 S>G No ClinGen
TOPMed
CA1321540
rs756349092
261 E>D No ClinGen
ExAC
gnomAD
rs750824129
CA1321539
262 Y>H No ClinGen
ExAC
gnomAD
rs1156271004
CA344112494
263 E>A No ClinGen
gnomAD
CA1321538
rs781508741
265 L>F No ClinGen
ExAC
gnomAD
COSM4897412
COSM3481376
275 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM424990
COSM4813336
277 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA344112076
rs1167009890
279 R>Q No ClinGen
TOPMed
COSM4026856
COSM1337762
279 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA344112034
rs1163495836
282 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
COSM4399199
COSM4399198
282 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA1321533
rs752406293
287 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs530526185
CA1321532
288 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA35968395
rs916957778
288 E>K No ClinGen
TOPMed
gnomAD
CA344111851
rs766937251
289 R>L No ClinGen
ExAC
gnomAD
CA1321531
rs766937251
289 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA344111853
rs1459259252
289 R>W No ClinGen
gnomAD
CA344111833
rs1571955102
290 A>G No ClinGen
Ensembl
COSM3481375
COSM4905756
295 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA1321528
rs760706406
295 S>Y No ClinGen
ExAC
CA1321527
rs761122837
298 C>G No ClinGen
ExAC
TOPMed
gnomAD
COSM4937018
COSM4937019
303 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 304 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1188810723
CA344111237
306 V>M No ClinGen
gnomAD
rs148716604
CA1321481
308 S>T No ClinGen
1000Genomes
ExAC
gnomAD
CA1321479
rs182269799
309 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1183938960
CA344111166
309 A>V No ClinGen
gnomAD
CA344111160
rs1239527134
310 L>S No ClinGen
gnomAD
TCGA novel 311 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA1321478
rs773498487
312 D>N No ClinGen
ExAC
gnomAD
TCGA novel 313 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA1321477
rs368047749
314 S>I No ClinGen
ESP
ExAC
gnomAD
CA344110986
rs1314921136
317 V>A No ClinGen
gnomAD
rs148683091
CA1321475
320 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1333495477
CA344110888
321 P>L No ClinGen
gnomAD
CA344110855
rs1482276187
322 Y>F No ClinGen
TOPMed
CA344110818
rs1385194867
323 R>K No ClinGen
gnomAD
rs1182142756
CA344110672
327 L>V No ClinGen
TOPMed
CA35968024
rs866691072
329 R>L No ClinGen
gnomAD
CA344110599
rs866691072
329 R>Q No ClinGen
gnomAD
rs1044443554
CA35968031
329 R>W No ClinGen
TOPMed
CA1321473
rs748862435
330 L>I No ClinGen
ExAC
gnomAD
rs948708465
CA35968015
332 Q>* No ClinGen
TOPMed
gnomAD
rs948708465
CA344110529
332 Q>K No ClinGen
TOPMed
gnomAD
TCGA novel 334 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs778434242
COSM1290084
337 G>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
COSM5832456
rs778434242
COSM5832455
338 N>Q Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
COSM4867684
COSM902046
340 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM4891810
COSM3481374
rs1262345783
CA344110130
341 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
NCI-TCGA
gnomAD
CA344110113
rs1217191306
342 I>T No ClinGen
gnomAD
CA344110044
rs528121290
344 I>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM902045
CA1321457
rs774564420
COSM4228990
345 A>T Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA344110013
rs1344563832
346 C>R No ClinGen
gnomAD
CA344109841
rs1338472230
351 D>V No ClinGen
gnomAD
COSM4874819
COSM902044
351 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA344109830
rs1320150740
352 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA1321454
rs779737040
352 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA344109545
rs1362848044
361 L>F No ClinGen
gnomAD
CA35967746
rs767565146
362 K>R No ClinGen
Ensembl
CA1321451
rs780840244
365 N>S No ClinGen
ExAC
gnomAD
rs1402440194
CA344109391
366 R>Q No ClinGen
gnomAD
COSM4860574
COSM678219
rs1250955515
CA344109395
366 R>W lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
CA344109371
rs1173856202
367 A>D No ClinGen
gnomAD
CA344109354
rs1476570625
368 R>C No ClinGen
gnomAD
rs756847786
CA1321450
368 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA344109221
rs1160783075
372 N>D No ClinGen
TOPMed
COSM71340 373 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA344109151
rs1194314570
374 V>L No ClinGen
gnomAD
CA344109147
rs1194314570
374 V>M No ClinGen
gnomAD
rs1571953395
CA344109051
377 N>T No ClinGen
Ensembl
CA1321448
rs777397981
378 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1186553752
CA344108933
380 K>N No ClinGen
gnomAD
CA344108911
rs1404410053
381 T>I No ClinGen
TOPMed
rs758378325
CA1321447
381 T>P No ClinGen
ExAC
gnomAD
rs376452020
CA1321446
382 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766476616
CA1321445
384 Q>* No ClinGen
ExAC
gnomAD
CA1321443
rs750620669
384 Q>H No ClinGen
ExAC
gnomAD
rs756116786
CA1321444
384 Q>R No ClinGen
ExAC
gnomAD
rs767835185
CA1321442
385 I>M No ClinGen
ExAC
gnomAD
rs761934289
CA1321441
386 S>T No ClinGen
ExAC
TOPMed
gnomAD
COSM4873294
COSM902043
387 A>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1341401396
CA344108670
389 R>Q No ClinGen
gnomAD
CA1321440
rs774829992
389 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs763589449
CA1321438
392 I>S No ClinGen
ExAC
TOPMed
gnomAD
CA1321439
rs764507630
392 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1467167007
CA344108587
394 R>Q No ClinGen
TOPMed
gnomAD
rs769442976
CA1321436
394 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA344108536
rs1162544488
397 M>V No ClinGen
gnomAD
CA344108450
rs1473016933
399 L>V No ClinGen
gnomAD
CA344108409
rs1323330319
400 M>I No ClinGen
TOPMed
COSM4228987
COSM2211769
rs371524692
404 A>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
rs1558019653
CA344108286
404 A>T No ClinGen
Ensembl
rs746619358
CA1321432
404 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs920356156
CA35966931
405 G>D No ClinGen
TOPMed
gnomAD
CA1321395
rs765914389
407 R>* No ClinGen
ExAC
gnomAD
CA1321394
rs373690387
407 R>Q No ClinGen
ESP
ExAC
gnomAD
rs772695028
CA1321393
411 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA1321391
rs142774440
412 D>N No ClinGen
ESP
ExAC
TOPMed
TCGA novel 413 G>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA344106763
rs1339999376
414 A>T No ClinGen
TOPMed
CA1321389
rs768297694
416 G>S No ClinGen
ExAC
gnomAD
CA344106652
rs1571951529
418 S>N No ClinGen
Ensembl
rs772692795
CA1321388
421 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA35966878
rs140412174
422 R>* No ClinGen
ESP
rs771634893
CA35966874
422 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs771634893
CA1321387
422 R>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 423 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs747155865
CA1321385
426 M>V No ClinGen
ExAC
gnomAD
CA1321383
rs758745163
428 Q>E No ClinGen
ExAC
gnomAD
rs563360685
CA344106283
429 K>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA344106172
rs1357614372
435 R>Q No ClinGen
gnomAD
CA1321380
rs755226578
435 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
CA1321378
rs199512300
437 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs937853917
CA35966834
437 R>W No ClinGen
Ensembl
rs1571951378
CA344106108
438 V>G No ClinGen
Ensembl
rs1241827924
CA344106132
438 V>M No ClinGen
TOPMed
rs1476058834
CA344106082
439 K>T No ClinGen
TOPMed
CA1321377
rs766852362
440 A>T No ClinGen
ExAC
gnomAD
rs1431469227
CA344106000
CA344106004
441 M>I No ClinGen
gnomAD
CA344105953
rs1192135354
442 Q>L No ClinGen
gnomAD
TCGA novel 445 I>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA1321375
COSM1738494
rs200299912
445 I>M haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA344105857
rs1170147175
445 I>N No ClinGen
TOPMed
rs1188630831
CA344105814
446 D>G No ClinGen
gnomAD
CA35966798
rs866076396
446 D>N No ClinGen
TOPMed
gnomAD
CA1321373
rs761485852
449 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs773928737
CA1321372
451 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs773928737
CA344105601
451 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs953396132
COSM5004691
COSM5004692
CA35966783
451 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
CA1321371
rs369897745
452 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 454 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
CA1321370
rs149557382
454 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM3864067
COSM3864066
rs963601591
CA35966734
456 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs1378112265
CA344105518
456 M>T No ClinGen
gnomAD
CA1321368
rs769663553
456 M>V No ClinGen
ExAC
gnomAD
CA1321366
rs773445211
457 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA1321367
rs773445211
457 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA344105497
rs1408476064
458 Q>E No ClinGen
gnomAD
rs1264383785
CA344105493
458 Q>R No ClinGen
TOPMed
rs772235540
CA1321365
461 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA344105411
rs1326653726
464 L>V No ClinGen
TOPMed
CA344105385
rs1173110225
465 A>D No ClinGen
gnomAD
COSM6123703
COSM6123702
465 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1167145203
CA344105397
465 A>T No ClinGen
TOPMed
gnomAD
CA344105364
rs1284086179
467 A>T No ClinGen
TOPMed
rs756451256
CA1321361
468 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA344104547
rs758012354
469 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA1321335
COSM4143151
rs758012354
COSM4143150
469 D>Y thyroid [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA1321334
rs372391603
471 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1304885231
CA344104489
473 A>V No ClinGen
TOPMed
rs765125044
CA1321333
474 I>V No ClinGen
ExAC
gnomAD
rs778478640
CA1321332
476 A>S No ClinGen
ExAC
gnomAD
rs778478640
CA35965579
476 A>T No ClinGen
ExAC
gnomAD
CA1321331
rs776549894
476 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs774342632
CA1321328
478 I>S No ClinGen
ExAC
gnomAD
rs1282908635
CA344104448
478 I>V No ClinGen
TOPMed
CA1321327
rs768730594
479 Q>R No ClinGen
ExAC
CA1321326
rs763091394
480 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA344104431
rs763091394
480 N>H No ClinGen
ExAC
TOPMed
gnomAD
rs376885029
CA1321325
480 N>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1321323
rs781508849
483 R>L No ClinGen
ExAC
gnomAD
rs781508849
CA1321322
483 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1333881054
CA344104355
484 E>D No ClinGen
gnomAD
COSM133989 486 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA344104303
rs1196100059
488 L>Q No ClinGen
gnomAD
TCGA novel 489 R>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 489 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1177946556
CA344104089
494 E>K No ClinGen
gnomAD
CA35965313
rs145642006
497 A>V No ClinGen
ESP
TOPMed
gnomAD
COSM1285780 498 M>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1175085100
CA344103938
499 N>S No ClinGen
TOPMed
CA344103929
COSM2211759
COSM4228976
rs1168380341
500 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
NCI-TCGA
gnomAD
CA1321292
rs750173633
501 S>A No ClinGen
ExAC
gnomAD
CA1321290
rs761625663
501 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA1321291
rs761625663
501 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs752827586
CA1321289
502 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA1321288
rs765256319
504 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA344103822
rs1243878342
504 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA344103830
rs1243878342
504 R>L No ClinGen
TOPMed
gnomAD
TCGA novel 505 S>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1205610406
CA344103809
505 S>N No ClinGen
gnomAD
CA344103771
rs1558017022
508 R>Q No ClinGen
Ensembl
CA35965268
rs1053127686
508 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA35965267
rs764127649
510 S>L No ClinGen
gnomAD
CA1321285
rs766663215
511 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA1321284
rs761156956
512 R>G No ClinGen
ExAC
COSM3481368
COSM4891823
512 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA344103627
CA35965262
rs906732901
513 S>R No ClinGen
TOPMed
gnomAD
COSM3481367
COSM4905488
514 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA344103616
rs1332518372
514 P>S No ClinGen
Ensembl
CA344103583
rs1338251233
516 S>T No ClinGen
TOPMed
gnomAD
CA344103546
rs1443968197
517 L>R No ClinGen
gnomAD
COSM6060591
COSM6060592
517 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1558016958
COSM531893
COSM6060594
CA344103524
COSM6060593
519 A>S lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA Cosmic
Ensembl
NCI-TCGA
CA1321283
rs773441238
520 S>F No ClinGen
ExAC
gnomAD
CA1321281
rs748641857
521 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs772671705
CA1321282
521 P>S No ClinGen
ExAC
gnomAD
COSM6123705
rs774020793
COSM1500506
CA1321280
COSM6123704
522 A>T lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
COSM4813696
COSM424988
CA35965243
rs866365757
523 A>T Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
CA1321277
rs779815267
523 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA344103457
rs1380566315
524 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs903755696
CA35965236
524 P>S No ClinGen
TOPMed
rs1456511036
CA344103450
525 A>T No ClinGen
gnomAD
CA344103435
rs1245146287
525 A>V No ClinGen
TOPMed
rs1232308155
CA344103400
526 F>C No ClinGen
gnomAD
rs745715373
CA1321275
527 G>E No ClinGen
ExAC
gnomAD
rs1440043506
CA344103397
CA344103395
527 G>R No ClinGen
gnomAD
TCGA novel 528 G>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
CA1321274
rs780827690
528 G>V No ClinGen
ExAC
gnomAD
rs757244028
CA1321273
529 S>T No ClinGen
ExAC
gnomAD
CA344103342
rs1316737348
530 P>H No ClinGen
gnomAD
TCGA novel 530 P>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA344103312
rs1237426941
531 A>V No ClinGen
gnomAD
rs1279620644
CA344103303
532 S>N No ClinGen
TOPMed
gnomAD
rs1279620644
CA344103300
532 S>T No ClinGen
TOPMed
gnomAD
CA344103285
rs1444354136
533 S>C No ClinGen
gnomAD
CA1321271
rs371947852
536 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1321272
rs371947852
536 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1425088757
CA344103210
537 A>S No ClinGen
gnomAD
CA344103194
rs1165706574
538 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA344103159
rs1571948119
540 V>G No ClinGen
Ensembl
CA1321266
rs760774571
542 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1471463401
CA344103139
542 R>H No ClinGen
TOPMed
gnomAD
CA344103132
rs1471463401
542 R>L No ClinGen
TOPMed
gnomAD
CA35965182
rs929639316
543 R>S No ClinGen
TOPMed
rs1245509885
CA344103126
543 R>T No ClinGen
gnomAD
CA344103046
rs1490617938
547 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
COSM4026855
COSM4026854
549 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA1321264
rs767724966
550 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA1321265
rs767724966
550 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs767724966
CA344103008
550 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA344103010
COSM1639676
rs1294401570
550 R>W stomach [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1225001720
CA344102974
552 K>N No ClinGen
TOPMed
gnomAD
rs975078674
CA35965167
554 K>E No ClinGen
TOPMed
rs1571947957
CA344102911
556 V>G No ClinGen
Ensembl
rs1284730184
CA344102926
556 V>I No ClinGen
TOPMed
CA344102879
rs1347239507
558 Q>H No ClinGen
gnomAD
COSM4026853
rs748876558
COSM4026852
CA1321259
559 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
CA1321260
rs762774383
559 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA1321258
COSM3481365
rs774832342
COSM4899390
560 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs1160049458
CA344102852
561 K>R No ClinGen
gnomAD
CA344102725
rs1226526071
562 S>R No ClinGen
TOPMed
gnomAD
CA344102708
rs1198209870
563 P>L No ClinGen
TOPMed
CA1321237
rs760922988
564 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs776092158
CA1321236
565 K>N No ClinGen
ExAC
gnomAD
CA344102668
rs1297441204
565 K>R No ClinGen
gnomAD
CA1321235
rs770560122
567 A>V No ClinGen
ExAC
gnomAD
rs746870457
CA1321234
572 A>E No ClinGen
ExAC
gnomAD
COSM1473247
COSM4813837
572 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA344102470
rs746870457
572 A>V No ClinGen
ExAC
gnomAD
RCV000522620
rs1553240713
573 K>missing No ClinVar
dbSNP
CA35964643
rs865942025
575 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs998012701
CA35964641
576 Q>H No ClinGen
TOPMed
gnomAD
rs1255388970
CA344102302
578 N>K No ClinGen
TOPMed
CA35964621
rs773684942
579 S>N No ClinGen
gnomAD
rs1023850106
COSM902041
CA35964605
COSM4863321
580 E>K Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
CA35964601
rs553956181
582 T>M No ClinGen
1000Genomes
TOPMed
gnomAD
CA344102223
rs553956181
582 T>R No ClinGen
1000Genomes
TOPMed
gnomAD
CA344102143
rs1421729264
586 E>K No ClinGen
TOPMed
gnomAD
CA344102140
rs1421729264
586 E>Q No ClinGen
TOPMed
gnomAD
CA1321229
rs151003945
587 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs151003945
CA1321230
587 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1321226
rs757523345
589 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs1336287498
CA344102076
589 E>K No ClinGen
TOPMed
CA344101928
rs1480060106
593 E>K No ClinGen
gnomAD
rs758635507
COSM4026848
COSM4026849
CA1321205
594 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs758635507
CA1321206
594 R>G No ClinGen
ExAC
gnomAD
CA1321203
rs373134245
594 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1321204
COSM4877355
COSM4877354
rs373134245
594 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA344101886
rs755476544
595 D>E No ClinGen
ExAC
gnomAD
rs753390486
CA1321201
596 E>A No ClinGen
ExAC
gnomAD
COSM1255820
rs892966441
COSM4894611
CA35964200
596 E>K Variant assessed as Somatic; MODERATE impact. oesophagus [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs892966441
CA35964202
596 E>Q No ClinGen
TOPMed
gnomAD
rs1053323751
CA35964193
597 S>G No ClinGen
TOPMed
gnomAD
rs574138491
CA1321200
599 C>W No ClinGen
1000Genomes
ExAC
gnomAD
rs554311091
CA1321199
600 E>G No ClinGen
1000Genomes
ExAC
CA1321198
rs772782924
601 E>G No ClinGen
ExAC
CA1321197
rs767312769
602 E>G No ClinGen
ExAC
COSM4399001
COSM3481363
602 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM6123708
COSM6123709
603 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA344101700
rs1222279062
603 E>Q No ClinGen
gnomAD
CA1321196
rs761570467
604 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs774166442
COSM4026847
COSM4026846
CA1321195
605 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
CA1321194
rs147761216
605 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA344101632
rs771070541
606 E>D No ClinGen
ExAC
gnomAD
CA1321192
rs200764096
606 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA1321193
rs200764096
606 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1321190
rs747249886
607 D>N No ClinGen
ExAC
gnomAD
CA1321189
rs778202622
607 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs868484306
COSM4531770
CA35964150
COSM3481362
608 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs779310643
CA1321186
612 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs779310643
CA1321187
612 S>W No ClinGen
ExAC
TOPMed
gnomAD
COSM902040
CA35964091
rs377169350
COSM4873165
616 E>D Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
ClinGen
cosmic curated
Ensembl
rs1474311296
CA344101378
618 L>M No ClinGen
gnomAD
CA344101362
rs1192827651
619 V>A No ClinGen
gnomAD
rs140372625
CA1321184
619 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755560786
CA1321182
620 D>G No ClinGen
ExAC
gnomAD
rs767140551
CA1321181
622 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs767140551
CA1321180
622 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs761504727
CA1321179
624 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA344101275
rs1558015501
624 D>N No ClinGen
Ensembl
rs1264325176
CA344101259
625 P>A No ClinGen
gnomAD
CA35964086
COSM3481361
rs866579901
COSM4904107
625 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
Ensembl
NCI-TCGA
CA1321177
rs763912127
626 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA1321175
rs775513951
627 E>D No ClinGen
ExAC
TOPMed
gnomAD
COSM4893614
COSM3481360
627 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA35964051
rs185829318
628 K>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs747157519
CA1321173
629 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs747157519
CA344101169
629 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1359670989
CA344148861
631 N>D No ClinGen
gnomAD
CA35998341
rs1051364011
631 N>S No ClinGen
gnomAD
CA344148817
rs1168729002
632 F>S No ClinGen
TOPMed
gnomAD
CA1321146
rs780574108
632 F>V No ClinGen
ExAC
gnomAD
rs756736149
COSM4228955
CA1321145
COSM2211738
634 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
CA344148711
rs921471066
637 A>S No ClinGen
TOPMed
CA35998321
rs921471066
637 A>T No ClinGen
TOPMed
rs752592969
CA1321141
637 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA1321139
rs759573082
638 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA344148645
rs1399036374
639 L>V No ClinGen
gnomAD
CA344148607
rs1159720557
640 T>I No ClinGen
gnomAD
rs767504399
CA1321137
640 T>S No ClinGen
ExAC
gnomAD
CA1321136
rs762009457
641 C>F No ClinGen
ExAC
gnomAD
CA344148597
rs1571944156
641 C>R No ClinGen
Ensembl
COSM3864064
COSM3864063
rs267598289
CA35998276
644 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs1191326083
CA344148468
645 I>S No ClinGen
TOPMed
COSM6123711
COSM6123710
649 L>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA344148265
rs1478514074
649 L>V No ClinGen
gnomAD
rs768598383
CA35998275
650 I>F No ClinGen
Ensembl
COSM3789317
COSM3789316
650 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM424987
COSM4812816
650 I>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs186282104
CA35998241
651 D>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs186282104
CA1321134
651 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM3481358
COSM4891889
652 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs775864023
CA1321132
652 E>Q No ClinGen
ExAC
gnomAD
CA344148011
rs1248412746
656 S>T No ClinGen
TOPMed
gnomAD
CA344147942
rs1321292382
657 Q>H No ClinGen
gnomAD
rs145622369
CA1321130
658 R>Q No ClinGen
1000Genomes
ESP
ExAC
gnomAD
CA35998236
rs971057642
658 R>W No ClinGen
Ensembl
rs1369385489
CA344147887
659 R>L No ClinGen
gnomAD
COSM382643
COSM4865506
rs780140610
CA35998227
659 R>W lung Variant assessed as Somatic; MODERATE impact. endometrium [Cosmic, NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs777255666
CA1321129
660 L>V No ClinGen
ExAC
gnomAD
CA1321128
rs771341010
662 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1427696752
CA344147540
667 Y>C No ClinGen
gnomAD
rs1480971608
CA344147567
667 Y>H No ClinGen
gnomAD
CA35998207
rs991396176
668 E>Q No ClinGen
Ensembl
rs1184472653
CA344147460
669 E>G No ClinGen
gnomAD
rs754759688
CA1321122
673 L>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM1295678
COSM4812031
675 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA344147097
rs1210316283
679 R>* No ClinGen
TOPMed
CA1321120
rs766404118
679 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs878964458
CA35998163
680 D>G No ClinGen
Ensembl
CA35998159
rs1027526288
682 Q>R No ClinGen
TOPMed
CA344146984
rs755974731
684 E>* No ClinGen
ExAC
gnomAD
CA344146969
rs1486812123
684 E>A No ClinGen
TOPMed
rs755974731
CA1321119
684 E>Q No ClinGen
ExAC
gnomAD
CA1321118
rs751709530
685 R>C No ClinGen
ExAC
gnomAD
CA1321117
COSM1337758
rs764120600
COSM4786043
685 R>H Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA344146917
rs1361491079
686 D>N No ClinGen
TOPMed
gnomAD
rs1437383996
CA344146884
687 R>S No ClinGen
gnomAD
rs765434108
CA1321114
689 L>Q No ClinGen
ExAC
gnomAD
COSM6123712
COSM6123713
695 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA1321078
rs757157117
695 M>T No ClinGen
ExAC
gnomAD
CA1321079
rs200201631
695 M>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 702 K>G Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
CA344145317
rs1413960102
704 N>K No ClinGen
gnomAD
CA344145294
rs1490112238
705 K>N No ClinGen
gnomAD
CA344145313
rs1571940583
705 K>Q No ClinGen
Ensembl
rs752825828
CA1321076
705 K>R No ClinGen
ExAC
gnomAD
CA344145161
rs1319152353
708 A>V No ClinGen
TOPMed
rs778918438
CA1321075
709 D>G No ClinGen
ExAC
rs543715577
CA1321073
712 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA1321072
rs766776053
713 R>K No ClinGen
ExAC
gnomAD
CA344144904
rs921788932
715 R>G No ClinGen
TOPMed
gnomAD
CA1321071
rs529917183
715 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs921788932
CA35997024
715 R>W No ClinGen
TOPMed
gnomAD
rs1345199231
CA344144698
719 R>L No ClinGen
TOPMed
gnomAD
rs1345199231
CA344144700
719 R>Q No ClinGen
TOPMed
gnomAD
COSM4865654
COSM902038
719 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 720 D>G Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM282235
rs541186299
CA35996979
726 A>T Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
1000Genomes
NCI-TCGA
gnomAD
rs1457276556
CA344144390
728 Q>* No ClinGen
gnomAD
TCGA novel 728 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1377982256
CA344144137
732 A>D No ClinGen
gnomAD
CA1321064
rs777561377
732 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs777561377
CA1321063
732 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA1321060
rs770880854
733 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs780946794
CA1321061
733 R>W No ClinGen
ExAC
gnomAD
rs1465364740
CA344144041
735 L>P No ClinGen
gnomAD
CA344143940
rs1240133411
739 S>L No ClinGen
TOPMed
gnomAD
CA1321057
rs200885893
COSM1639675
740 R>C stomach [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA344143917
rs753937959
COSM1581109
740 R>H haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA1321056
rs753937959
740 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA1321054
rs750865418
742 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs767943202
CA1321053
743 R>K No ClinGen
ExAC
gnomAD
rs1294351881
CA344143839
743 R>S No ClinGen
gnomAD
rs754739842
CA35996950
744 E>K No ClinGen
TOPMed
CA344143724
rs1435209966
748 L>Q No ClinGen
gnomAD
rs1334687647
CA344143704
749 Q>R No ClinGen
gnomAD
rs762441448
CA1321052
751 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs752055582
CA1321051
753 A>T No ClinGen
ExAC
gnomAD
CA35996927
rs911900092
756 K>R No ClinGen
TOPMed
gnomAD
rs764649455
CA1321050
758 A>T No ClinGen
ExAC
gnomAD
rs1251525474
CA344141638
760 V>L No ClinGen
gnomAD
COSM6123716
COSM6123717
766 M>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA1321031
rs764551376
766 M>T No ClinGen
ExAC
gnomAD
CA344141482
rs1343815266
766 M>V No ClinGen
gnomAD
COSM1581108
CA1321030
rs184368767
767 R>C haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
COSM4874451
CA344141443
rs1356366486
COSM902037
767 R>H Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
CA344141402
rs1442559720
768 E>V No ClinGen
TOPMed
gnomAD
CA1321029
rs752174472
772 R>Q No ClinGen
ExAC
gnomAD
CA344141331
rs1439917989
772 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA1321027
rs150040803
773 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs564603169
CA1321028
773 R>W No ClinGen
1000Genomes
ExAC
gnomAD
CA344141265
rs756418278
774 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs756418278
CA1321025
774 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs146403487
CA1321026
774 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1216482497
CA344141252
775 L>V No ClinGen
gnomAD
rs760527078
CA1321024
776 V>E No ClinGen
ExAC
gnomAD
rs1571934234
CA344141202
777 E>G No ClinGen
Ensembl
rs1165457029
CA344141185
COSM369539
778 T>I lung [Cosmic] No ClinGen
cosmic curated
TOPMed
CA1321023
rs773026448
779 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1411736888
CA344141097
781 N>D No ClinGen
gnomAD
rs959484745
CA35994190
781 N>K No ClinGen
TOPMed
gnomAD
rs1266346444
CA344141048
782 R>Q No ClinGen
TOPMed
gnomAD
rs771950376
CA1321022
782 R>W No ClinGen
ExAC
gnomAD
TCGA novel 783 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
CA35994174
rs775462491
785 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs775462491
CA1321020
785 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA1321019
rs138837432
785 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1288858664
CA344140844
788 K>E No ClinGen
gnomAD
CA344140749
rs1343341204
790 E>G No ClinGen
gnomAD
rs781628536
CA1321017
792 R>Q No ClinGen
ExAC
gnomAD
rs1301601094
CA344140697
792 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs747380037
CA344140660
793 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA1321015
rs747380037
793 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA344140642
rs1388574815
795 E>K No ClinGen
gnomAD
COSM1337756
COSM4785905
795 E>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA1321000
rs759729192
797 Q>H No ClinGen
ExAC
gnomAD
CA344140319
rs1182437794
797 Q>R No ClinGen
TOPMed
rs1248086878
CA344140283
799 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs776829182
CA1320999
799 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA344140271
rs1459904151
800 A>P No ClinGen
gnomAD
rs1042677151
CA35993860
802 E>* No ClinGen
TOPMed
CA35993857
rs944245731
802 E>V No ClinGen
TOPMed
COSM4868066
COSM902036
804 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1210588721
CA344140163
804 Q>R No ClinGen
gnomAD
CA344140087
COSM4785696
COSM1337755
rs1364620614
806 R>Q Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
CA1320995
rs541811989
806 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1320993
rs779467952
809 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1571933045
CA344139870
811 V>G No ClinGen
Ensembl
CA1320992
rs367929176
811 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs528414543
COSM531897
COSM6060595
COSM6060596
CA1320991
813 R>K lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA1320990
rs779492718
816 T>S No ClinGen
ExAC
gnomAD
CA344139636
rs1361252121
817 Q>E No ClinGen
gnomAD
COSM3481355
COSM4906138
818 E>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA344139327
rs1558008810
819 V>A No ClinGen
Ensembl
rs758411092
CA1320964
819 V>I No ClinGen
ExAC
gnomAD
TCGA novel 821 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 823 R>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA1320963
rs752619880
824 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA1320962
COSM3481353
rs765068592
COSM4905880
824 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
CA344139010
rs1421643436
828 P>T No ClinGen
TOPMed
rs1477521082
CA344138948
829 M>V No ClinGen
TOPMed
CA1320961
rs760879983
831 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs561504096
CA1320960
832 R>G No ClinGen
ExAC
gnomAD
rs368586806
CA1320958
832 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs561504096
CA344138803
832 R>W No ClinGen
ExAC
gnomAD
rs866613972
CA35993571
835 G>E No ClinGen
Ensembl
CA1320954
rs776035656
836 R>C No ClinGen
ExAC
gnomAD
CA1320952
COSM458319
rs141871941
836 R>H cervix [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs141871941
CA344138665
836 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1320953
rs141871941
836 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1320951
rs780518567
837 A>T No ClinGen
ExAC
gnomAD
rs866186108
CA35993557
838 G>E No ClinGen
Ensembl
rs746591322
CA1320949
839 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA344138583
rs1558008671
840 K>R No ClinGen
Ensembl
rs1489474129
CA344138573
841 P>A No ClinGen
TOPMed
gnomAD
CA1320948
rs138915096
842 P>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA344138513
rs1558008653
843 M>I No ClinGen
Ensembl
rs141958232
CA1320947
843 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM4925773
COSM4925774
845 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs752531935
CA1320945
850 V>M No ClinGen
ExAC
gnomAD
CA1320944
rs149878626
851 S>L No ClinGen
ESP
ExAC
gnomAD
CA1320942
rs750541983
853 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1388013409
CA344138224
854 T>I No ClinGen
gnomAD
rs1001416397
CA35993521
855 T>A No ClinGen
TOPMed
TCGA novel 857 S>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 858 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA35993514
rs767458974
860 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA1320940
rs762029270
862 G>E No ClinGen
ExAC
CA344138035
rs1319872125
863 A>S No ClinGen
gnomAD
rs142914751
CA1320939
864 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1320937
rs201161747
864 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1320938
rs201161747
864 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1320936
rs775695479
865 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs1479866453
CA344137989
866 V>F No ClinGen
gnomAD
CA1320933
rs776206215
870 V>M No ClinGen
ExAC
gnomAD
CA1320931
rs540134751
871 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1465720206
CA344137871
871 R>H No ClinGen
TOPMed
gnomAD
TCGA novel 873 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs146392643
CA1320930
875 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1320929
rs371230464
875 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371230464
CA344137750
875 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3803417
COSM3803418
877 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA1320925
rs753653884
879 H>R No ClinGen
ExAC
gnomAD
rs754976164
CA1320926
879 H>Y No ClinGen
ExAC
gnomAD
rs528339942
CA35993361
880 F>I No ClinGen
gnomAD
CA1320924
rs200776260
881 L>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1367298121
CA344137514
881 L>S No ClinGen
gnomAD
CA344137476
rs1395247207
883 D>G No ClinGen
gnomAD
COSM4897325
COSM3481351
885 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs757387167
CA1320923
886 A>T No ClinGen
ExAC
gnomAD
rs201355461
CA1320922
886 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA1320920
rs763113039
887 P>S No ClinGen
ExAC
gnomAD
CA344137311
rs1450100213
889 V>A No ClinGen
gnomAD
rs753135682
CA1320919
890 N>S No ClinGen
ExAC
gnomAD
rs760098433
CA1320917
892 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1212624082
CA344137171
893 R>C No ClinGen
gnomAD
COSM902035
COSM4873798
CA1320915
rs771556735
893 R>H Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
rs771556735
CA344137136
893 R>L No ClinGen
ExAC
TOPMed
CA1320914
COSM3481350
rs760298858
COSM4897441
896 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
COSM6060597
COSM6060598
896 R>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA1320913
rs772829037
896 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA344136131
rs1466376454
897 K>N No ClinGen
TOPMed
gnomAD
TCGA novel 897 K>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs950116813
CA35993127
901 K>E No ClinGen
TOPMed
TCGA novel 902 K>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA1320896
rs767045421
904 A>T No ClinGen
ExAC
gnomAD
CA1320895
rs572746581
905 S>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs370606334
CA1320894
905 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA344135785
rs1356391242
906 Q>R No ClinGen
gnomAD
CA1320893
rs377123925
911 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs761541411
CA1320892
911 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1167651753
CA344135547
912 A>T No ClinGen
gnomAD
rs1471855756
CA344135504
913 R>K No ClinGen
gnomAD
CA344135483
rs1411677647
914 L>V No ClinGen
gnomAD
COSM1728911
rs1182517364
CA344135368
916 W>R liver [Cosmic] No ClinGen
cosmic curated
gnomAD
CA1320890
COSM678220
rs768350530
COSM4862080
921 R>* lung Variant assessed as Somatic; HIGH impact. [Cosmic, NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1320889
rs373199147
921 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1320888
rs779775292
922 R>Q No ClinGen
ExAC
gnomAD
rs1275046152
CA344134983
924 I>T No ClinGen
TOPMed
gnomAD
CA344134967
rs1235478663
925 D>H No ClinGen
TOPMed
CA344134966
rs1235478663
925 D>N No ClinGen
TOPMed
CA1320886
rs141159592
927 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA344134795
rs1571930941
928 M>L No ClinGen
Ensembl
CA344134710
rs1225216899
931 M>V No ClinGen
gnomAD
rs1273238832
CA344134648
933 I>T No ClinGen
gnomAD
rs142794607
CA1320883
933 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1320882
rs373553632
935 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1411227503
CA344134473
938 A>T No ClinGen
TOPMed
CA344134455
rs1388419064
938 A>V No ClinGen
gnomAD
rs1160415808
CA344134396
940 M>V No ClinGen
gnomAD
rs1422639545
CA344134310
942 R>Q No ClinGen
gnomAD
rs754180658
COSM4948713
COSM1337754
CA1320879
942 R>W Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1478102580
CA344134242
945 K>E No ClinGen
gnomAD
TCGA novel 947 R>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1447281807
CA344133910
951 F>I No ClinGen
gnomAD
rs993415497
CA35992835
954 Q>* No ClinGen
gnomAD
CA344133789
rs1385837659
956 A>V No ClinGen
TOPMed
rs145500432
CA1320857
958 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA344133742
COSM337635
rs1296992330
958 R>W lung large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1302664638
CA344133691
959 R>S No ClinGen
TOPMed
gnomAD
TCGA novel 959 R>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA1320856
rs763592461
961 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA1320854
rs368046254
961 R>Q No ClinGen
ESP
ExAC
gnomAD
rs763592461
CA1320855
961 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1370626580
CA344133590
962 E>D No ClinGen
gnomAD
rs201937333
CA1320851
963 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1320852
rs764862669
COSM4026843
COSM4026842
963 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs770793249
CA1320849
965 Q>E No ClinGen
ExAC
gnomAD
rs768726346
CA1320846
969 P>L No ClinGen
ExAC
gnomAD
rs774303993
CA1320847
969 P>S No ClinGen
ExAC
gnomAD
CA1320844
rs780491834
970 E>K No ClinGen
ExAC
gnomAD
CA344133364
rs1206665889
971 E>D No ClinGen
TOPMed
gnomAD
CA35992749
rs867382583
972 E>K No ClinGen
Ensembl
CA1320842
rs746284805
984 V>G No ClinGen
ExAC
gnomAD
rs1558007732
CA344132760
986 A>E No ClinGen
Ensembl
rs774113322
CA35992727
987 A>G No ClinGen
Ensembl
RCV000845074
rs1571930248
988 N>missing No ClinVar
dbSNP
CA1320840
rs757708029
989 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA344132656
rs1357752151
989 I>V No ClinGen
gnomAD
CA35992713
rs921706449
991 Y>S No ClinGen
TOPMed
CA344132584
rs1408817244
993 N>H No ClinGen
TOPMed
gnomAD
rs1558007686
CA344132578
993 N>S No ClinGen
Ensembl
rs370076018
CA344132558
994 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA35992710
rs973528778
995 G>S No ClinGen
TOPMed
gnomAD
rs757968603
CA1320837
996 I>V No ClinGen
ExAC
gnomAD
rs375029523
CA1320836
997 T>I No ClinGen
ESP
ExAC
gnomAD
CA344132406
rs1180339606
999 C>W No ClinGen
gnomAD
rs1385735832
CA344132269
1003 I>V No ClinGen
Ensembl
rs983020699
CA35992676
1004 V>L No ClinGen
TOPMed
gnomAD
COSM209454
CA344132231
rs983020699
1004 V>M Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA344132052
rs1487506175
1010 K>R No ClinGen
gnomAD
CA344131773
rs1290902105
1012 E>D No ClinGen
TOPMed
gnomAD
CA1320801
rs778411234
1012 E>K No ClinGen
ExAC
gnomAD
CA1320800
rs754544393
1014 D>H No ClinGen
ExAC
gnomAD
CA344131691
rs1558007480
1016 T>A No ClinGen
Ensembl
COSM4863216
COSM678221
1017 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA344131620
rs1416098796
1018 T>K No ClinGen
TOPMed
rs748747363
CA1320799
1019 S>C No ClinGen
ExAC
gnomAD
rs755700539
CA1320797
1020 V>M No ClinGen
ExAC
gnomAD
CA344131559
rs1193097230
1023 S>G No ClinGen
gnomAD
CA35992520
rs777644350
1031 R>C No ClinGen
gnomAD
COSM312340
rs767382537
CA1320795
1031 R>H lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
COSM6060599
COSM6060600
1031 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA1320792
rs764123257
1035 D>E No ClinGen
ExAC
gnomAD
rs751602599
CA1320793
1035 D>G No ClinGen
ExAC
gnomAD
rs759700369
CA1320791
1036 N>D No ClinGen
ExAC
CA344131102
rs1252298688
1037 F>C No ClinGen
TOPMed
TCGA novel 1040 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1041 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs766642944
CA1320789
1043 D>E No ClinGen
ExAC
gnomAD
CA344130896
rs1341882397
1044 K>R No ClinGen
TOPMed
rs763331252 1045 G>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
CA1320765
rs774676250
1045 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1337593414
CA344130518
1047 Q>* No ClinGen
gnomAD
CA35991769
rs1043347356
1048 V>M No ClinGen
TOPMed
CA344130455
rs1440773202
1049 A>T No ClinGen
gnomAD
CA1320762
rs775071133
1053 A>V No ClinGen
ExAC
gnomAD
TCGA novel 1054 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA1320759
COSM4816305
rs781031353
COSM424984
1056 R>Q Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs745376488
CA1320760
1056 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA344130276
rs1467137241
1057 L>M No ClinGen
TOPMed
rs913689255
CA35991747
1060 G>S No ClinGen
gnomAD
CA344130218
rs1192977516
1061 R>* No ClinGen
TOPMed
gnomAD
rs770684134
CA1320758
1061 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1320757
rs746818505
1062 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs746818505
CA344130214
1062 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA344130168
rs1298851998
1063 R>S No ClinGen
TOPMed
CA1320756
rs777667718
1065 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA344130124
rs777667718
1065 T>R No ClinGen
ExAC
TOPMed
gnomAD
COSM424983
COSM4813654
1065 T>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA1320753
rs778899125
1067 M>T No ClinGen
ExAC
gnomAD
rs752516012
CA1320754
1067 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1235525526
CA344130053
1069 G>V No ClinGen
TOPMed
rs1233599767
CA344130040
1070 S>F No ClinGen
TOPMed
gnomAD
rs750475944
CA1320751
1071 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs750475944
CA344130038
1071 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs1328439999
CA344129974
1073 N>S No ClinGen
gnomAD
CA1320748
rs751952433
1079 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1422573344
CA344129797
1079 A>V No ClinGen
gnomAD
rs1286188382
CA344129795
1080 L>V No ClinGen
gnomAD
rs764300358
CA1320747
1081 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs763531100
CA35991663
1081 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA1320746
rs763531100
1081 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs770301614
CA1320744
1086 A>V No ClinGen
ExAC
gnomAD
CA1320743
rs759165397
1087 H>N No ClinGen
ExAC
TOPMed
gnomAD
CA344129578
rs1571927710
1087 H>P No ClinGen
Ensembl
rs776231896
CA1320742
1087 H>Q No ClinGen
ExAC
gnomAD
rs759165397
CA344129584
1087 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA344129540
rs1278393159
1089 E>K No ClinGen
gnomAD
rs1306348134
CA344129472
1091 Q>H No ClinGen
TOPMed
gnomAD
rs1213306130
CA344129469
1092 A>T No ClinGen
TOPMed
gnomAD
CA35991584
rs1006440488
1094 I>M No ClinGen
Ensembl
CA344129311
rs1439158523
1096 N>D No ClinGen
TOPMed
CA1320739
rs777721305
1097 V>A No ClinGen
ExAC
rs1293239166
CA344129138
1099 Q>R No ClinGen
TOPMed
CA344128113
rs1381530001
1101 N>D No ClinGen
TOPMed
CA1320711
CA344128042
rs200143132
1103 Y>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA344128038
rs777904600
1104 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs777904600
CA1320709
1104 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs758596457
CA1320708
1104 A>V No ClinGen
ExAC
gnomAD
rs994062130
CA35991379
1106 T>K No ClinGen
Ensembl
TCGA novel 1107 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1207170531
CA344127952
1107 D>Y No ClinGen
TOPMed
CA344127825
rs1278958174
1111 S>* No ClinGen
gnomAD
COSM4869795
COSM902033
1113 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA344127732
rs1207213444
1114 S>P No ClinGen
gnomAD
rs966273606
CA35991376
1115 E>D No ClinGen
TOPMed
gnomAD
rs1441334053
CA344127668
1116 G>D No ClinGen
TOPMed
CA1320706
rs765567729
1117 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs1366039030
CA344127622
1117 S>I No ClinGen
TOPMed
gnomAD
CA344127653
rs765567729
1117 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA344127381
rs1308558587
1118 F>L No ClinGen
gnomAD
rs1427316782
CA344127368
1119 S>F No ClinGen
TOPMed
rs748341444
CA1320689
1120 Q>H No ClinGen
ExAC
gnomAD
rs1231379900
CA344127360
1120 Q>P No ClinGen
gnomAD
rs778986480
CA1320688
1123 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs868404550
CA35991207
1124 M>I No ClinGen
Ensembl
CA1320686
rs754226401
1126 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs1382480222
CA344127213
1126 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA1320687
rs754226401
1126 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs79014613
CA1320685
1127 S>P No ClinGen
ExAC
gnomAD
rs200705792
CA1320684
1128 T>P No ClinGen
ExAC
gnomAD
rs992008787
CA35991176
1132 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA344126981
rs1395080041
1135 F>L No ClinGen
gnomAD
rs1194793180
CA344126958
1136 K>R No ClinGen
gnomAD
rs1223363768
CA344126785
1137 S>N No ClinGen
TOPMed
rs1571924866
CA344126753
1139 P>S No ClinGen
Ensembl
rs1558005047
CA344126663
1145 M>R No ClinGen
Ensembl
CA344126633
rs1185314463
1148 V>M No ClinGen
gnomAD
COSM902032
COSM4873668
1149 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA344126605
rs1571924801
1152 C>G No ClinGen
Ensembl
TCGA novel 1154 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA344126594
rs1337381744
1154 G>S No ClinGen
gnomAD
rs1471048187
CA344126589
1154 G>V No ClinGen
TOPMed
COSM2211696
COSM4335025
1156 P>H Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA1320664
rs781538004
1156 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1320663
rs781538004
1156 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA344126570
rs1425192581
1158 D>G No ClinGen
TOPMed
COSM77965
rs1313587578
CA344126532
1161 T>N ovary [Cosmic] No ClinGen
cosmic curated
gnomAD
CA344126522
rs1368142854
1162 K>R No ClinGen
TOPMed
CA344126493
rs1408906090
1165 T>A No ClinGen
TOPMed
COSM1337749
COSM4782896
1169 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA1320659
COSM4764335
COSM4764336
rs762552831
1172 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs374324357
CA1320658
1174 I>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs867123470
CA35990285
1176 E>K No ClinGen
Ensembl
CA344126355
rs144609175
1177 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM138268
rs759234752
CA1320656
1178 G>R skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs566220899
CA1320655
1178 G>V No ClinGen
1000Genomes
ExAC
gnomAD
rs764977449
CA35990243
1179 V>A No ClinGen
gnomAD
CA1320654
rs770740316
1179 V>M No ClinGen
ExAC
gnomAD
rs774526461
CA1320652
1183 V>I No ClinGen
ExAC
gnomAD
CA1320653
rs774526461
1183 V>L No ClinGen
ExAC
gnomAD
rs769034251
CA1320651
1184 R>* No ClinGen
ExAC
gnomAD
rs371053876
CA1320650
1184 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs376964063
CA1320648
1189 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs746216671
CA344126176
1189 R>P No ClinGen
ExAC
gnomAD
rs746216671
CA1320647
1189 R>Q No ClinGen
ExAC
gnomAD
rs376964063
CA1320649
COSM209453
COSM4782911
1189 R>W Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs757654586
CA1320645
1191 R>G No ClinGen
ExAC
gnomAD
rs746551783
CA1320644
1192 V>I No ClinGen
ExAC
gnomAD
CA1320643
COSM1212411
rs759136145
1193 S>L large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA35990174
rs759136145
1193 S>W No ClinGen
ExAC
TOPMed
gnomAD
rs983748414
CA35990158
COSM1743637
1194 R>C biliary_tract [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs375407145
CA1320640
1194 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1320638
COSM2211694
COSM4026841
rs201349051
1196 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA35990114
rs751938642
1199 P>L No ClinGen
Ensembl
CA1320636
rs766365113
1200 T>I No ClinGen
ExAC
gnomAD
rs371066665
CA1320634
1201 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371066665
CA1320633
1201 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs763115699
CA1320632
1202 G>D No ClinGen
ExAC
gnomAD
CA344125992
rs1459053056
1203 S>C No ClinGen
gnomAD
TCGA novel 1205 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA1320618
COSM3481346
rs756134028
COSM4891891
1210 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750448381
CA344125666
1214 T>A No ClinGen
ExAC
gnomAD
CA1320616
rs369653840
COSM1212413
1214 T>M large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs750448381
CA1320617
1214 T>P No ClinGen
ExAC
gnomAD
CA1320614
rs775691918
1216 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA1320611
rs777063474
1218 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA1320612
rs777063474
1218 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs1558004513
CA344125499
1221 K>M No ClinGen
Ensembl
CA1320610
rs375526424
1223 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1320608
rs773747249
1224 D>N No ClinGen
ExAC
gnomAD
CA344125390
rs147866695
1225 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA344125386
rs747677870
1225 R>P No ClinGen
ExAC
gnomAD
CA1320606
rs747677870
1225 R>Q No ClinGen
ExAC
gnomAD
rs778248419
CA1320605
1226 G>R No ClinGen
ExAC
gnomAD
COSM4859164
COSM678222
1227 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1184563513
CA344125341
1229 I>V No ClinGen
gnomAD
COSM3789314
COSM3789315
CA344124746
rs1558003032
1233 D>N urinary_tract [Cosmic] No ClinGen
cosmic curated
Ensembl
COSM1134797 1233 D>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM4895450
COSM4895451
1235 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs748830296
CA1320585
1235 G>R No ClinGen
ExAC
gnomAD
CA1320584
rs779616811
1236 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs769551612
CA1320583
1237 T>I No ClinGen
ExAC
gnomAD
rs973986051
CA35988898
1238 P>L No ClinGen
TOPMed
gnomAD
CA1320582
rs745682971
1238 P>T No ClinGen
ExAC
gnomAD
TCGA novel 1241 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1292286726
CA344124581
1244 T>I No ClinGen
gnomAD
CA1320580
rs757271782
1245 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781065888
CA1320581
1245 R>W No ClinGen
ExAC
TOPMed
gnomAD
COSM1320589 1246 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs751505502
CA1320579
1247 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM4867613
rs777757543
CA1320578
COSM902030
1247 R>H Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA344124554
rs777757543
1247 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA1320577
rs755052725
1250 R>C No ClinGen
ExAC
gnomAD
CA1320576
rs766609365
1250 R>H No ClinGen
ExAC
gnomAD
CA1320575
rs766609365
1250 R>L No ClinGen
ExAC
gnomAD
rs1264811878
CA344124493
1251 N>H No ClinGen
TOPMed
CA1320573
rs750792575
1251 N>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1253 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1558002936
CA344124397
1254 S>F No ClinGen
Ensembl
CA1320571
rs762225525
1255 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs200381288
CA35988886
1258 S>G No ClinGen
TOPMed
CA344124209
rs1175518505
1263 G>E No ClinGen
gnomAD
CA344124216
rs1174458087
1263 G>R No ClinGen
TOPMed
rs974494179
CA35988878
1264 S>T No ClinGen
Ensembl
CA1320569
rs144598197
1265 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775094351
CA344124155
1266 L>P No ClinGen
ExAC
gnomAD
CA1320567
rs775094351
1266 L>Q No ClinGen
ExAC
gnomAD
CA1320566
rs368095400
1267 D>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA344124108
rs1300308340
1268 K>R No ClinGen
TOPMed
CA344123814
rs1330747785
1270 D>E No ClinGen
TOPMed
rs1353784897
CA344123765
1272 S>G No ClinGen
gnomAD
CA344123720
rs1231955110
1273 D>N No ClinGen
gnomAD
rs868017782
CA35987686
1275 S>F No ClinGen
Ensembl
rs1370112877
CA344123632
1276 L>S No ClinGen
gnomAD
rs1301750014
CA344123596
1277 S>L No ClinGen
TOPMed
gnomAD
rs1282586376
CA344123569
1279 V>F No ClinGen
TOPMed
rs1571914879
CA344122733
1285 S>A No ClinGen
Ensembl
CA35983931
rs868507612
1285 S>F No ClinGen
TOPMed
CA35983936
rs868507612
1285 S>Y No ClinGen
TOPMed
rs756253893
CA1320535
1286 P>L No ClinGen
ExAC
gnomAD
COSM4228897
COSM3481344
1286 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1185243158
CA344122619
1288 G>A No ClinGen
TOPMed
gnomAD
rs544069907
CA1320533
1290 A>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs751902877
CA1320531
1291 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs200030709
CA344122549
1292 G>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs991066872
CA344122548
1292 G>D No ClinGen
TOPMed
rs200030709
CA35983918
1292 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200030709
CA1320530
1292 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs991066872
CA35983913
1292 G>V No ClinGen
TOPMed
rs758674671
CA1320529
1294 R>Q No ClinGen
ExAC
gnomAD
rs1218953359
CA344122513
1294 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs753318546
CA1320528
1295 T>A No ClinGen
ExAC
gnomAD
CA1320527
rs765805058
1295 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA344122359
rs1233363392
1300 C>Y No ClinGen
gnomAD
CA344122301
CA1320525
rs776232070
1303 M>L No ClinGen
ExAC
gnomAD
CA344122300
rs776232070
1303 M>V No ClinGen
ExAC
gnomAD
COSM5002229
CA1320523
rs760306875
COSM5002228
1305 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1320521
rs145377208
1308 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145377208
CA1320522
1308 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA344122097
rs1162315652
1311 I>V No ClinGen
gnomAD
rs1168092956
CA344122066
1312 L>F No ClinGen
TOPMed
COSM1320590 1316 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1368569214
CA344121952
1317 T>I No ClinGen
TOPMed
gnomAD
CA344121926
rs1417252859
1318 D>E No ClinGen
gnomAD
rs541919266
CA35983842
1318 D>H No ClinGen
1000Genomes
gnomAD
rs541919266
CA344121936
1318 D>N No ClinGen
1000Genomes
gnomAD
CA1320518
rs768562446
1321 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs1212027245
CA344121779
1322 F>C No ClinGen
gnomAD
rs781295347
CA1320515
1324 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs748553881
CA1320492
1328 R>G No ClinGen
ExAC
gnomAD
rs762285465
CA1320491
1328 R>Q No ClinGen
ExAC
gnomAD
rs755554770
CA344121012
1331 K>M No ClinGen
ExAC
TOPMed
gnomAD
rs755554770
CA1320490
1331 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA344121008
rs1247555499
1332 M>L No ClinGen
gnomAD
CA344120964
rs1170544715
1334 N>K No ClinGen
TOPMed
CA35982840
rs936708082
1336 V>I No ClinGen
TOPMed
rs148995617
CA1320488
1337 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1320489
rs148995617
1337 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1262593839
CA344120882
1339 Q>R No ClinGen
gnomAD
rs749879726
CA1320486
1341 I>L No ClinGen
ExAC
gnomAD
CA344120832
rs761419541
1342 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA1320484
COSM209451
rs761419541
1342 A>T Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs751363063
CA1320483
1343 A>T No ClinGen
ExAC
gnomAD
rs763821874
CA1320482
1345 K>R No ClinGen
ExAC
gnomAD
COSM4897419
COSM3481341
1346 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA344120748
rs1571912837
1347 H>P No ClinGen
Ensembl
rs74962326
CA1320481
1348 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1230284212
CA344120734
1348 P>T No ClinGen
TOPMed
COSM902029
COSM4875865
1355 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA1320478
rs760827160
1356 Y>S No ClinGen
ExAC
rs773124377
CA1320477
1357 C>G No ClinGen
ExAC
gnomAD
CA1320476
rs772428493
1357 C>S No ClinGen
ExAC
gnomAD
CA344120533
rs1557998794
1358 S>T No ClinGen
Ensembl
rs1414879600
CA344120496
1359 H>Q No ClinGen
gnomAD
CA1320475
rs748320919
1359 H>R No ClinGen
ExAC
gnomAD
rs1050958860
CA35982780
1359 H>Y No ClinGen
Ensembl
rs150759147
CA1320474
1360 S>L No ClinGen
ESP
ExAC
gnomAD
COSM3481340
COSM4897243
1365 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1194551347
CA344120416
1366 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1039174810
CA35982771
1367 S>F No ClinGen
Ensembl
CA344120404
rs1489310156
1367 S>P No ClinGen
gnomAD
CA1320471
rs780660329
1370 Y>C No ClinGen
ExAC
gnomAD
CA1320470
rs756531232
1371 I>V No ClinGen
ExAC
gnomAD
rs1208140343
CA344120312
1372 K>E No ClinGen
TOPMed
rs745419043
CA1320469
1373 V>M No ClinGen
ExAC
gnomAD
CA344120244
rs1448603030
1376 I>V No ClinGen
TOPMed
CA1320467
rs756919658
1377 R>Q No ClinGen
ExAC
gnomAD
rs1217111451
CA344120229
1377 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA35982717
rs936730509
1380 A>V No ClinGen
TOPMed
gnomAD
rs1376322516
CA344120130
1384 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
COSM4899319
rs148681629
CA1320465
COSM3481339
1384 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 1385 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs758234153
CA1320464
1386 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA1320463
rs752381283
1387 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs764882363
CA1320445
1388 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs749063098
CA1320444
COSM4026838
COSM4026837
1389 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
CA344119402
rs1180832159
1390 G>A No ClinGen
gnomAD
CA35981117
rs866081298
1390 G>S No ClinGen
Ensembl
CA1320442
rs149261347
1393 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA344119236
rs1268549977
1395 G>E No ClinGen
TOPMed
gnomAD
TCGA novel 1400 A>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs762033039
CA35981111
1400 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs762033039
COSM902027
CA1320441
1400 A>T endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA1320437
rs564491313
1404 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1320436
rs770118841
1404 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA344118915
rs1384804072
1407 T>I No ClinGen
gnomAD
CA344118854
rs1197387543
1409 A>V No ClinGen
TOPMed
gnomAD
CA35981065
rs1041368136
1411 G>S No ClinGen
TOPMed
CA344118815
rs1293151975
1412 E>K No ClinGen
gnomAD
rs777168074
CA1320434
1413 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs771373697
CA1320433
1414 Q>H No ClinGen
ExAC
gnomAD
rs746551404
CA1320432
1415 I>L No ClinGen
ExAC
gnomAD
rs771767165
CA1320430
1419 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs747812926
CA1320429
1420 L>V No ClinGen
ExAC
gnomAD
COSM678223
COSM4860076
1421 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA344118466
rs1325857808
1421 S>R No ClinGen
TOPMed
COSM902026
rs1191391325
COSM4870803
CA344118426
1423 S>L Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs753664651
CA1320426
1424 G>A No ClinGen
ExAC
gnomAD
CA1320425
rs780164811
1427 L>P No ClinGen
ExAC
gnomAD
CA1320423
rs375949029
1429 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1320421
rs763078617
1430 A>D No ClinGen
ExAC
gnomAD
rs1442856195
CA344118276
1430 A>T No ClinGen
TOPMed
gnomAD
CA1320420
rs752932959
1431 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA35980956
rs752932959
1431 S>W No ClinGen
ExAC
TOPMed
gnomAD
COSM678224
COSM4859730
1433 N>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM678225
COSM4858961
1434 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA1320418
rs759837389
1435 V>I No ClinGen
ExAC
gnomAD
rs1361814429
CA344118032
1436 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA1320417
COSM1733782
rs776939102
1436 R>H pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
COSM4925975
COSM4925974
1436 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1361814429
CA344118036
1436 R>S No ClinGen
gnomAD
rs771428814
CA1320416
1440 L>P No ClinGen
ExAC
gnomAD
CA344117806
rs1571909690
1442 R>K No ClinGen
Ensembl
CA344117590
rs1397752528
1444 Q>H No ClinGen
gnomAD
CA344117558
rs1169474713
1445 P>L No ClinGen
gnomAD
CA344117556
rs1236053103
1446 V>I No ClinGen
TOPMed
rs773631554
CA1320398
1447 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA1320397
rs773631554
1447 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs773873351
CA1320394
1453 I>V No ClinGen
ExAC
gnomAD
rs1571909149
CA344117327
1454 G>A No ClinGen
Ensembl
CA35980495
rs1009930903
1454 G>S No ClinGen
TOPMed
gnomAD
rs1557996390
CA344117309
1455 P>L No ClinGen
Ensembl
rs748894977
CA1320392
1455 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs775270816
CA1320391
1456 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs371235023
CA1320390
1460 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781009610
CA1320388
1462 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1314058805
CA344117117
1463 Q>P No ClinGen
gnomAD
rs748178950
CA1320386
1464 T>A No ClinGen
ExAC
gnomAD
rs146916477
CA1320385
1464 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1320383
rs754124617
1465 A>V No ClinGen
ExAC
gnomAD
rs142799216
CA1320380
1471 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142799216
CA1320379
1471 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs762317273
CA1320378
1472 V>A No ClinGen
ExAC
gnomAD
rs1293823031
CA344116829
1474 G>A No ClinGen
TOPMed
rs1437697718
CA344116790
1476 K>E No ClinGen
gnomAD
CA344116805
rs1437697718
1476 K>Q No ClinGen
gnomAD
CA35980464
rs141421404
COSM109764
1478 H>Q skin [Cosmic] No ClinGen
cosmic curated
Ensembl
rs773748276
CA1320377
1479 Y>F No ClinGen
ExAC
gnomAD
rs1178947844
CA344116685
1479 Y>H No ClinGen
gnomAD
CA35980450
rs1049734021
1480 V>G No ClinGen
Ensembl
CA344116669
rs1208206673
1480 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs752179066
CA1320357
1482 M>L No ClinGen
ExAC
gnomAD
rs1395543426
CA344116047
1483 F>I No ClinGen
gnomAD
CA1320356
rs149715193
1483 F>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1320354
rs146030020
1484 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146030020
CA344116005
1484 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1176156309
CA344115974
1485 L>V No ClinGen
gnomAD
rs1557995324
CA344115924
1486 G>V No ClinGen
Ensembl
rs1477823118
CA344115918
COSM902024
1487 E>K Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
CA1320352
rs139422310
1488 C>G No ClinGen
ESP
ExAC
gnomAD
CA1320351
rs776131067
1489 V>A No ClinGen
ExAC
gnomAD
CA1320349
rs200890486
1490 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141163764
CA1320347
1492 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1320345
rs143966011
1493 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1557995254
CA344115801
1493 I>V No ClinGen
Ensembl
CA1320342
rs746160875
1494 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1571907320
CA344115747
1495 P>A No ClinGen
Ensembl
rs757683666
CA1320340
1497 H>R No ClinGen
ExAC
gnomAD
CA1320341
rs781269346
1497 H>Y No ClinGen
ExAC
gnomAD
CA344115681
rs1157596378
1498 N>D No ClinGen
gnomAD
CA35979607
rs751851213
1499 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA1320338
rs778450016
1500 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM161975
COSM4810040
1502 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 1503 H>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1407167199
CA344115537
1504 Y>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs144049379
CA1320333
1505 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1320332
rs765924369
1508 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs61740481
CA35979548
1509 C>Y No ClinGen
Ensembl
rs772951580
CA1320330
1511 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA35979539
rs372866126
1513 Q>P No ClinGen
Ensembl
rs1462022672
CA344115321
1515 D>N No ClinGen
gnomAD
CA1320329
rs772002911
1516 I>S No ClinGen
ExAC
gnomAD
rs769986420
CA344115155
1522 R>* No ClinGen
ExAC
gnomAD
rs1258132353
CA344115127
COSM4391731
COSM397085
1522 R>Q lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
CA1320325
rs745908641
1524 N>D No ClinGen
ExAC
gnomAD
rs1283497407
CA344115068
1525 G>V No ClinGen
gnomAD
rs1487169305
CA344115021
1527 K>R No ClinGen
gnomAD
CA1320323
rs771014296
1528 K>Q No ClinGen
ExAC
gnomAD
TCGA novel 1529 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1384759001
CA344114864
1530 D>G No ClinGen
gnomAD
CA35979519
rs897984816
1530 D>N No ClinGen
TOPMed
rs1328997473
CA344114804
1532 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA344114777
rs1220838226
1533 Q>R No ClinGen
TOPMed
rs1399760782
CA344114725
1534 Q>H No ClinGen
gnomAD
TCGA novel 1535 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
CA35979146
rs893498810
1542 N>S No ClinGen
TOPMed
rs779375010
CA1320298
1543 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs755638591
CA1320297
COSM4026834
COSM4026833
1543 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1320295
rs767128477
1544 H>N No ClinGen
ExAC
gnomAD
CA344114303
rs1308815118
1546 D>N No ClinGen
gnomAD
rs150039989
CA344114208
1549 C>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs371234338
CA1320292
1550 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs924713622
COSM3481336
CA35979091
COSM4904080
1550 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
NCI-TCGA
TOPMed
CA344114126
rs1571906045
1554 I>L No ClinGen
Ensembl
CA344114111
rs1405613213
1555 P>A No ClinGen
gnomAD
CA1320291
rs367842661
1555 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs374243060
CA1320287
1557 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1320288
rs374243060
1557 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1320286
rs772370328
1557 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs774513349
CA1320284
1561 L>F No ClinGen
ExAC
gnomAD
rs769220889
CA1320283
1561 L>P No ClinGen
ExAC
COSM1337746
COSM4786294
1563 A>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA1320279
rs745363004
1563 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1261001548
CA344113942
1563 A>V No ClinGen
gnomAD
rs1215834067
CA344113914
1565 R>C No ClinGen
TOPMed
gnomAD
rs757902142
CA35979017
1566 A>T No ClinGen
TOPMed
rs1252446264
CA344113880
1566 A>V No ClinGen
TOPMed
CA1320275
rs757273186
1567 G>S No ClinGen
ExAC
gnomAD
CA10868625
rs1282875178
1569 I>L No ClinGen
TOPMed
gnomAD
rs916406565
CA35978988
1570 K>T No ClinGen
Ensembl
CA1320273
rs758204948
1571 V>A No ClinGen
ExAC
gnomAD
COSM4893624
COSM3481335
1572 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 1572 W>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1486124253
CA344113745
1572 W>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs752614135
CA1320272
1574 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs760858891
CA344113614
1575 D>E No ClinGen
ExAC
gnomAD
rs1386241819
CA344113633
1575 D>N No ClinGen
gnomAD
TCGA novel 1579 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM902021
rs1176678168
CA344113502
COSM3864058
1581 G>S Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1448590601
CA344113438
1583 I>V No ClinGen
gnomAD
COSM1337745
COSM4784978
1585 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
CA344113345
rs1464303269
1586 H>Y No ClinGen
TOPMed
rs1263742406
CA344113308
1587 D>E No ClinGen
gnomAD
CA1320266
rs774619563
1587 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1209517597
CA344113291
1588 S>N No ClinGen
gnomAD
rs1571905747
CA344113261
1589 P>T No ClinGen
Ensembl
CA916380277
rs1571905729
1589 P>TF* No ClinGen
Ensembl
rs1482786468
CA344113218
1591 N>S No ClinGen
gnomAD
rs962324507
CA35978950
1592 A>S No ClinGen
gnomAD
rs1325849166
CA344113184
1593 I>T No ClinGen
gnomAD
COSM4897217
COSM3481334
1593 I>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs770240852
CA1320262
1596 N>S No ClinGen
ExAC
gnomAD
CA35978910
rs1015224828
1597 A>D No ClinGen
TOPMed
CA35978908
rs1015224828
1597 A>V No ClinGen
TOPMed
rs563987924
CA1320261
1598 K>M No ClinGen
1000Genomes
ExAC
gnomAD
CA1320260
rs139376570
1599 H>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1320259
rs770410636
1600 I>T No ClinGen
ExAC
gnomAD
rs1382524552
CA344113085
1601 F>L No ClinGen
gnomAD
rs1382330101
COSM5595868
COSM5595869
CA344112984
1604 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
NCI-TCGA
TOPMed
CA344111965
rs1557993602
1606 D>G No ClinGen
Ensembl
rs763238254
CA1320244
1608 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1320245
rs764362831
1608 R>W No ClinGen
ExAC
gnomAD
rs561876803
CA1320243
1609 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs759983236
CA1320241
1610 K>M No ClinGen
ExAC
gnomAD
rs770498620
CA1320239
1612 W>C No ClinGen
ExAC
gnomAD
CA344111651
rs746518366
1614 Y>* No ClinGen
ExAC
TOPMed
gnomAD
COSM4784566
COSM1285781
CA1320237
rs200570033
1615 V>I Variant assessed as Somatic; MODERATE impact. large_intestine autonomic_ganglia [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1320235
rs201292196
1616 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA344111565
rs1398968198
1619 T>A No ClinGen
TOPMed
CA1320234
rs559417656
1620 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA35978388
rs559417656
1620 P>R No ClinGen
1000Genomes
ExAC
gnomAD
CA344111501
rs1345917478
1621 C>W No ClinGen
TOPMed
rs778803239
CA1320233
1624 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1320232
rs754798616
1624 R>H No ClinGen
ExAC
gnomAD
rs780134125
CA1320230
1625 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA344111447
rs780134125
1625 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs865830055
CA35978328
1625 R>Q No ClinGen
TOPMed
gnomAD
CA35978318
rs765324456
1627 L>P No ClinGen
Ensembl
rs1239326742
CA344111399
1629 I>M No ClinGen
gnomAD
rs757337335
COSM6123724
COSM1212410
CA1320229
1632 R>H lung Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs757337335
CA344111371
1632 R>L No ClinGen
ExAC
TOPMed
gnomAD
COSM4696028
CA344111367
COSM4696029
rs1222919024
1633 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
NCI-TCGA
TOPMed
CA344111355
rs1571904406
1634 T>P No ClinGen
Ensembl
rs1403795353
CA344111340
1635 T>A No ClinGen
gnomAD
rs1403795353
CA344111336
1635 T>P No ClinGen
gnomAD

No associated diseases with O75037

No regional properties for O75037

Type Name Position InterPro Accession
No domain, repeats, and functional sites for O75037

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, cytoskeleton
  • Cell projection, dendrite
  • Cell projection, growth cone
  • Cell projection, axon
  • Cytoplasmic vesicle
PANTHER Family PTHR47969 CHROMOSOME-ASSOCIATED KINESIN KIF4A-RELATED
PANTHER Subfamily PTHR47969:SF28 KINESIN-LIKE PROTEIN KIF21B ISOFORM X1
PANTHER Protein Class cytoskeletal protein
microtubule binding motor protein
microtubule or microtubule-binding cytoskeletal protein
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
cytoplasmic vesicle A vesicle found in the cytoplasm of a cell.
dendrite A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
growth cone The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic.
kinesin complex Any complex that includes a dimer of molecules from the kinesin superfamily, a group of related proteins that contain an extended region of predicted alpha-helical coiled coil in the main chain that likely produces dimerization. The native complexes of several kinesin family members have also been shown to contain additional peptides, often designated light chains as all of the noncatalytic subunits that are currently known are smaller than the chain that contains the motor unit. Kinesin complexes generally possess a force-generating enzymatic activity, or motor, which converts the free energy of the gamma phosphate bond of ATP into mechanical work.
microtubule Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.

4 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity Catalysis of the reaction
microtubule binding Binding to a microtubule, a filament composed of tubulin monomers.
microtubule motor activity A motor activity that generates movement along a microtubule, driven by ATP hydrolysis.

1 GO annotations of biological process

Name Definition
microtubule-based movement A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules.

20 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
O95239 KIF4A Chromosome-associated kinesin KIF4A Homo sapiens (Human) SS
Q2VIQ3 KIF4B Chromosome-associated kinesin KIF4B Homo sapiens (Human) SS
P33176 KIF5B Kinesin-1 heavy chain Homo sapiens (Human) EV
O60282 KIF5C Kinesin heavy chain isoform 5C Homo sapiens (Human) EV
Q12840 KIF5A Kinesin heavy chain isoform 5A Homo sapiens (Human) EV
Q2M1P5 KIF7 Kinesin-like protein KIF7 Homo sapiens (Human) EV
Q86VH2 KIF27 Kinesin-like protein KIF27 Homo sapiens (Human) SS
Q7Z4S6 KIF21A Kinesin-like protein KIF21A Homo sapiens (Human) EV
Q9P2E2 KIF17 Kinesin-like protein KIF17 Homo sapiens (Human) EV
O00139 KIF2A Kinesin-like protein KIF2A Homo sapiens (Human) PR
Q9NQT8 KIF13B Kinesin-like protein KIF13B Homo sapiens (Human) EV
Q9H1H9 KIF13A Kinesin-like protein KIF13A Homo sapiens (Human) SS
O43896 KIF1C Kinesin-like protein KIF1C Homo sapiens (Human) SS
Q7M6Z4 Kif27 Kinesin-like protein KIF27 Mus musculus (Mouse) SS
B7ZNG0 Kif7 Kinesin-like protein KIF7 Mus musculus (Mouse) SS
Q9QXL2 Kif21a Kinesin-like protein KIF21A Mus musculus (Mouse) EV SS
Q9QXL1 Kif21b Kinesin-like protein KIF21B Mus musculus (Mouse) SS
Q7M6Z5 Kif27 Kinesin-like protein KIF27 Rattus norvegicus (Rat) SS
F1M5N7 Kif21b Kinesin-like protein KIF21B Rattus norvegicus (Rat) SS
Q58G59 kif7 Kinesin-like protein kif7 Danio rerio (Zebrafish) (Brachydanio rerio) SS
10 20 30 40 50 60
MAGQGDCCVK VAVRIRPQLS KEKIEGCHIC TSVTPGEPQV LLGKDKAFTY DFVFDLDTWQ
70 80 90 100 110 120
EQIYSTCVSK LIEGCFEGYN ATVLAYGQTG AGKTYTMGTG FDMATSEEEQ GIIPRAIAHL
130 140 150 160 170 180
FGGIAERKRR AQEQGVAGPE FKVSAQFLEL YNEEILDLFD STRDPDTRHR RSNIKIHEDA
190 200 210 220 230 240
NGGIYTTGVT SRLIHSQEEL IQCLKQGALS RTTASTQMNV QSSRSHAIFT IHLCQMRMCT
250 260 270 280 290 300
QPDLVNEAVT GLPDGTPPSS EYETLTAKFH FVDLAGSERL KRTGATGERA KEGISINCGL
310 320 330 340 350 360
LALGNVISAL GDQSKKVVHV PYRDSKLTRL LQDSLGGNSQ TIMIACVSPS DRDFMETLNT
370 380 390 400 410 420
LKYANRARNI KNKVVVNQDK TSQQISALRA EIARLQMELM EYKAGKRVIG EDGAEGYSDL
430 440 450 460 470 480
FRENAMLQKE NGALRLRVKA MQEAIDAINN RVTQLMSQEA NLLLAKAGDG NEAIGALIQN
490 500 510 520 530 540
YIREIEELRT KLLESEAMNE SLRRSLSRAS ARSPYSLGAS PAAPAFGGSP ASSMEDASEV
550 560 570 580 590 600
IRRAKQDLER LKKKEVRQRR KSPEKEAFKK RAKLQQENSE ETDENEAEEE EEERDESGCE
610 620 630 640 650 660
EEEGREDEDE DSGSEESLVD SDSDPEEKEV NFQADLADLT CEIEIKQKLI DELENSQRRL
670 680 690 700 710 720
QTLKHQYEEK LILLQNKIRD TQLERDRVLQ NLSTMECYTE EKANKIKADY EKRLREMNRD
730 740 750 760 770 780
LQKLQAAQKE HARLLKNQSR YERELKKLQA EVAEMKKAKV ALMKQMREEQ QRRRLVETKR
790 800 810 820 830 840
NREIAQLKKE QRRQEFQIRA LESQKRQQEM VLRRKTQEVS ALRRLAKPMS ERVAGRAGLK
850 860 870 880 890 900
PPMLDSGAEV SASTTSSEAE SGARSVSSIV RQWNRKINHF LGDHPAPTVN GTRPARKKFQ
910 920 930 940 950 960
KKGASQSFSK AARLKWQSLE RRIIDIVMQR MTIVNLEADM ERLIKKREEL FLLQEALRRK
970 980 990 1000 1010 1020
RERLQAESPE EEKGLQELAE EIEVLAANID YINDGITDCQ ATIVQLEETK EELDSTDTSV
1030 1040 1050 1060 1070 1080
VISSCSLAEA RLLLDNFLKA SIDKGLQVAQ KEAQIRLLEG RLRQTDMAGS SQNHLLLDAL
1090 1100 1110 1120 1130 1140
REKAEAHPEL QALIYNVQQE NGYASTDEEI SEFSEGSFSQ SFTMKGSTSH DDFKFKSEPK
1150 1160 1170 1180 1190 1200
LSAQMKAVSA ECLGPPLDIS TKNITKSLAS LVEIKEDGVG FSVRDPYYRD RVSRTVSLPT
1210 1220 1230 1240 1250 1260
RGSTFPRQSR ATETSPLTRR KSYDRGQPIR STDVGFTPPS SPPTRPRNDR NVFSRLTSNQ
1270 1280 1290 1300 1310 1320
SQGSALDKSD DSDSSLSEVL RGIISPVGGA KGARTAPLQC VSMAEGHTKP ILCLDATDEL
1330 1340 1350 1360 1370 1380
LFTGSKDRSC KMWNLVTGQE IAALKGHPNN VVSIKYCSHS GLVFSVSTSY IKVWDIRDSA
1390 1400 1410 1420 1430 1440
KCIRTLTSSG QVISGDACAA TSTRAITSAQ GEHQINQIAL SPSGTMLYAA SGNAVRIWEL
1450 1460 1470 1480 1490 1500
SRFQPVGKLT GHIGPVMCLT VTQTASQHDL VVTGSKDHYV KMFELGECVT GTIGPTHNFE
1510 1520 1530 1540 1550 1560
PPHYDGIECL AIQGDILFSG SRDNGIKKWD LDQQELIQQI PNAHKDWVCA LAFIPGRPML
1570 1580 1590 1600 1610 1620
LSACRAGVIK VWNVDNFTPI GEIKGHDSPI NAICTNAKHI FTASSDCRVK LWNYVPGLTP
1630
CLPRRVLAIK GRATTLP