Descriptions

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

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q9P241

Entry ID Method Resolution Chain Position Source
AF-Q9P241-F1 Predicted AlphaFoldDB

1161 variants for Q9P241

Variant ID(s) Position Change Description Diseaes Association Provenance
CA2908015
rs745570202
4 A>T No ClinGen
ExAC
gnomAD
rs1577629046
CA356775858
5 L>F No ClinGen
Ensembl
CA2908016
rs199628718
6 Q>P No ClinGen
ExAC
TOPMed
gnomAD
CA96641883
rs199628718
6 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1212400672
CA356775870
7 W>* No ClinGen
gnomAD
rs763546918
CA2908018
7 W>R No ClinGen
ExAC
TOPMed
gnomAD
CA356775907
rs1577629114
12 W>R No ClinGen
Ensembl
CA2908020
rs774800431
13 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs111932778
CA2908021
13 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA2908023
rs750580060
14 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs767742740
CA2908022
14 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1184942423
CA356775932
17 R>G No ClinGen
gnomAD
rs1299699640
CA356775934
17 R>K No ClinGen
TOPMed
rs766357970
CA2908025
18 G>R No ClinGen
ExAC
gnomAD
rs1462262033
CA356775951
20 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA2908026
rs754017045
20 T>I No ClinGen
ExAC
gnomAD
CA356775954
rs754017045
20 T>S No ClinGen
ExAC
gnomAD
rs1344930454
CA356775995
26 G>E No ClinGen
gnomAD
CA2908029
rs375980643
27 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2908030
rs375980643
27 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA356776008
rs1379513033
28 Y>* No ClinGen
gnomAD
CA2908031
rs751316006
28 Y>C No ClinGen
ExAC
gnomAD
CA2908032
rs757014021
29 N>S No ClinGen
ExAC
gnomAD
CA2908035
rs138139630
30 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2908034
rs745489831
30 Y>D No ClinGen
ExAC
gnomAD
CA96641978
rs745489831
30 Y>H No ClinGen
ExAC
gnomAD
CA96641982
rs138139630
30 Y>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1694334
CA96641985
rs772782452
31 S>F skin [Cosmic] No ClinGen
cosmic curated
Ensembl
rs199950421
CA2908037
32 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA356776027
rs1163668388
32 S>T No ClinGen
gnomAD
rs199950421
CA96642006
32 S>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA96642021
rs373598354
33 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143618340
CA356776042
35 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143618340
CA2908041
35 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2908042
rs773685085
38 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs760805456
CA356776063
COSM243107
38 R>H lung Variant assessed as Somatic; 0.0 impact. prostate [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs760805456
CA2908043
38 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1399321730
CA356776075
40 S>Y No ClinGen
gnomAD
VAR_048385
CA2908045
rs33995001
43 T>I No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA2908048
rs765340052
44 P>A No ClinGen
ExAC
gnomAD
CA2908047
rs765340052
44 P>S No ClinGen
ExAC
gnomAD
TCGA novel 44 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356776123
rs1278870211
48 G>E No ClinGen
TOPMed
gnomAD
rs750234424
CA2908051
51 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA2908050
rs202028690
51 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs916763878
CA96642060
52 I>L No ClinGen
gnomAD
CA2908052
rs755667737
55 P>S No ClinGen
ExAC
gnomAD
CA356776170
rs1577629541
56 H>P No ClinGen
Ensembl
rs1254583453
CA356776169
56 H>Y No ClinGen
TOPMed
CA96642110
rs374344538
59 P>S No ClinGen
ESP
TOPMed
rs778615439
CA2908056
61 K>N No ClinGen
ExAC
gnomAD
CA2908058
rs772704541
62 D>G No ClinGen
ExAC
gnomAD
CA96642118
rs533561156
62 D>N No ClinGen
ExAC
gnomAD
CA2908057
rs533561156
62 D>Y No ClinGen
ExAC
gnomAD
CA96642120
rs370135326
63 E>K No ClinGen
ESP
TOPMed
rs1261383806
CA356776226
64 Y>C No ClinGen
TOPMed
CA2908059
rs773384255
65 E>D No ClinGen
ExAC
gnomAD
COSM339826
rs1193451427
CA356776230
65 E>K lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1171298737
CA356776257
68 S>C No ClinGen
TOPMed
gnomAD
TCGA novel 69 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776801919
CA2908062
COSM189856
69 G>R large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1327649319
CA356776265
70 A>P No ClinGen
TOPMed
gnomAD
rs1327649319
CA356776264
70 A>T No ClinGen
TOPMed
gnomAD
rs759803259
CA2908063
70 A>V No ClinGen
ExAC
gnomAD
CA96642185
rs898368908
71 Y>C No ClinGen
TOPMed
gnomAD
CA2908065
rs775610558
72 V>M No ClinGen
ExAC
CA356776285
rs1297133400
73 N>S No ClinGen
TOPMed
CA356776289
rs1233057725
74 N>H No ClinGen
Ensembl
CA2908066
rs118048800
74 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2908067
COSM1245681
rs373001297
75 R>* oesophagus [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA551149421
rs1560417089
75 R>* No ClinGen
Ensembl
COSM256370
CA2908068
rs750138858
75 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA356776304
rs1196433876
76 I>M No ClinGen
gnomAD
rs760552115
CA2908069
76 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs766319846
CA2908070
77 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA96642245
rs149671949
77 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
gnomAD
CA2908072
rs754735402
78 T>A No ClinGen
ExAC
gnomAD
rs1475707410
CA356776314
79 T>A No ClinGen
TOPMed
COSM1670997
rs908093392
CA96642258
81 Y>S breast [Cosmic] No ClinGen
cosmic curated
Ensembl
CA356776342
rs1187791331
83 L>F No ClinGen
TOPMed
gnomAD
CA2908074
rs752261830
83 L>R No ClinGen
ExAC
gnomAD
CA2908076
rs778373594
84 L>P No ClinGen
ExAC
gnomAD
CA2908077
rs747510569
85 N>D No ClinGen
ExAC
gnomAD
CA356776364
rs1326424708
87 V>M No ClinGen
gnomAD
CA2908079
rs534550458
92 F>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA356776427
rs1438407498
95 F>L No ClinGen
TOPMed
gnomAD
CA2908080
rs746082899
96 H>D No ClinGen
ExAC
TOPMed
gnomAD
CA2908081
rs746082899
96 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs967659275
CA356776435
97 R>G No ClinGen
TOPMed
gnomAD
rs184019410
CA2908107
101 L>S No ClinGen
1000Genomes
ExAC
gnomAD
CA356776600
rs1161214162
102 Y>* No ClinGen
gnomAD
rs893455576
CA96644130
103 F>I No ClinGen
TOPMed
TCGA novel 103 F>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356776613
rs1452782300
105 F>L No ClinGen
gnomAD
TCGA novel 106 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2908110
rs763651667
107 V>A No ClinGen
ExAC
gnomAD
CA2908111
rs371064535
108 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757700600
CA2908112
110 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA356776654
rs1413024428
111 W>* No ClinGen
gnomAD
TCGA novel 112 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768032388
CA2908113
114 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1433029470
CA356776670
114 L>V No ClinGen
gnomAD
CA2908115
rs750749360
117 A>T No ClinGen
ExAC
gnomAD
COSM1540335
CA356776694
rs1449420927
118 F>L lung [Cosmic] No ClinGen
cosmic curated
TOPMed
CA356776703
rs1238757013
119 Q>E No ClinGen
gnomAD
TCGA novel 121 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1472346066
CA356776736
123 T>I No ClinGen
Ensembl
rs1259285953
CA356776741
124 M>V No ClinGen
gnomAD
rs1350547704
CA356776754
125 L>F No ClinGen
TOPMed
gnomAD
CA356776757
rs1211078299
126 P>A No ClinGen
gnomAD
CA356776767
rs1484397911
128 V>L No ClinGen
gnomAD
CA356776768
rs1484397911
128 V>M No ClinGen
gnomAD
CA356776772
rs1178498512
129 V>M No ClinGen
TOPMed
gnomAD
rs566390429
CA2908118
132 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA356776797
rs1179603674
133 I>V No ClinGen
gnomAD
CA356776813
rs1174429574
135 A>G No ClinGen
gnomAD
CA2908120
rs755222321
135 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA356776821
rs1212960459
137 K>Q No ClinGen
gnomAD
CA356776825
rs1290706431
137 K>T No ClinGen
TOPMed
CA356776833
rs1375127841
COSM1642479
138 D>G stomach [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1179841672
CA356776837
139 G>S No ClinGen
Ensembl
rs778984994
CA2908121
143 Y>F No ClinGen
ExAC
gnomAD
rs770945581
CA2908123
144 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2908122
rs748191553
144 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1373575522
CA356776883
146 Y>H No ClinGen
gnomAD
rs745848496
CA2908126
151 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA2908127
rs1348991982
152 I>N No ClinGen
TOPMed
gnomAD
CA356776931
rs1348991982
152 I>T No ClinGen
TOPMed
gnomAD
CA356776929
rs1345346672
152 I>V No ClinGen
gnomAD
CA96644229
rs926064307
156 I>V No ClinGen
Ensembl
TCGA novel 157 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2908131
rs775214799
158 K>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA356776988
rs1560419071
160 Y>* No ClinGen
Ensembl
rs889046802
CA96644237
160 Y>C No ClinGen
TOPMed
gnomAD
rs1428472104
CA356776994
161 S>N No ClinGen
TOPMed
rs558389505
CA2908160
163 K>R No ClinGen
1000Genomes
ExAC
TOPMed
TCGA novel 164 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773846255
CA2908161
164 E>K No ClinGen
ExAC
gnomAD
CA356777441
rs1427076629
164 E>V No ClinGen
TOPMed
TCGA novel 166 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1420625292
CA356777464
166 K>T No ClinGen
gnomAD
rs1164871207
CA356777492
168 I>T No ClinGen
gnomAD
rs1421944037
CA356777504
169 D>G No ClinGen
TOPMed
CA2908164
rs771557660
170 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA2908165
rs74568336
170 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs7683838
VAR_048386
CA2908166
171 C>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA356777517
rs7683838
171 C>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs766813065
CA2908167
171 C>Y No ClinGen
ExAC
gnomAD
rs765680826
CA2908170
175 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA356777567
rs1305498021
176 T>A No ClinGen
TOPMed
rs758757182
CA2908172
177 V>A No ClinGen
ExAC
gnomAD
rs1371965807
CA356777588
179 D>V No ClinGen
gnomAD
CA2908174
rs200556408
182 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
RCV000975037
CA2908175
rs114311534
182 R>H No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA96648951
rs182993483
184 S>P No ClinGen
1000Genomes
TCGA novel 185 C>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2908176
rs779885363
185 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs749286393
CA356777634
186 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs376532237
CA2908179
187 E>D No ClinGen
ESP
ExAC
gnomAD
rs371624169
CA2908178
187 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA356777640
rs1577642767
187 E>V No ClinGen
Ensembl
CA96648999
rs888485233
188 V>L No ClinGen
TOPMed
gnomAD
rs1412336116
CA356777650
189 I>N No ClinGen
gnomAD
CA356777658
rs1402799834
190 P>L No ClinGen
gnomAD
rs1282955975
CA356777656
190 P>S No ClinGen
TOPMed
gnomAD
TCGA novel 191 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA96649017
rs761176128
193 M>I No ClinGen
gnomAD
CA96649012
rs776216011
193 M>T No ClinGen
Ensembl
rs1034594160
CA96649002
193 M>V No ClinGen
Ensembl
rs1314340108
CA356777694
194 V>I No ClinGen
TOPMed
gnomAD
rs1314340108
CA356777697
194 V>L No ClinGen
TOPMed
gnomAD
CA96649048
rs951143810
196 L>F No ClinGen
TOPMed
gnomAD
rs1461890943
CA356777717
196 L>H No ClinGen
Ensembl
CA2908184
rs771431785
197 F>S No ClinGen
ExAC
gnomAD
rs776974710
CA2908185
202 D>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 205 C>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764970382
CA96649056
207 I>T No ClinGen
TOPMed
rs760145099
CA2908186
208 E>G No ClinGen
ExAC
gnomAD
TCGA novel 212 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA96649072
rs200306183
212 L>P No ClinGen
1000Genomes
CA2908188
rs753112385
213 D>N No ClinGen
ExAC
gnomAD
rs1486032355
CA356777919
215 E>K No ClinGen
gnomAD
CA356777937
rs1236195378
216 S>C No ClinGen
gnomAD
CA2908190
rs764432218
220 Q>H No ClinGen
ExAC
gnomAD
COSM309339
rs1205596215
CA356777991
221 R>G lung [Cosmic] No ClinGen
cosmic curated
TOPMed
TCGA novel 221 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1577642986
CA356778034
223 V>G No ClinGen
Ensembl
CA356778050
rs559976209
225 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs559976209
CA2908192
225 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs192815760
COSM1055707
CA96649097
225 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
NCI-TCGA
TOPMed
gnomAD
CA96649107
rs912415432
226 G>E No ClinGen
gnomAD
CA356778084
rs1390109385
228 A>V No ClinGen
TOPMed
rs1309088477
CA356778099
230 Q>E No ClinGen
TOPMed
CA356778140
rs1195896394
234 V>F No ClinGen
TOPMed
CA2908216
rs754814555
235 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA2908217
rs765186564
237 E>D No ClinGen
ExAC
gnomAD
CA356778168
rs1232753927
238 K>E No ClinGen
gnomAD
rs140687448
CA2908218
238 K>T No ClinGen
ESP
ExAC
gnomAD
CA96650896
rs998690829
241 S>G No ClinGen
gnomAD
rs1341549219
CA356778211
244 E>A No ClinGen
gnomAD
rs889975234
CA96650916
247 S>R No ClinGen
gnomAD
TCGA novel 248 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2908220
rs144361524
249 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA356778259
rs1456863048
250 N>K No ClinGen
gnomAD
CA2908221
rs746635713
251 D>A No ClinGen
ExAC
gnomAD
rs756936486
CA2908222
253 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA2908223
rs780506636
253 S>R No ClinGen
ExAC
gnomAD
COSM1055708
CA356778295
rs1243544755
256 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs201697796
COSM4005773
CA2908224
256 R>Q urinary_tract [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 261 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773456330
CA96656562
263 N>I No ClinGen
ExAC
TOPMed
gnomAD
rs1438148196
CA356778475
263 N>K No ClinGen
TOPMed
gnomAD
CA2908250
rs773456330
263 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs200864587
CA2908251
264 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2908253
rs776693676
265 E>K No ClinGen
ExAC
gnomAD
CA2908254
rs762815957
266 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs146578598
CA2908255
COSM1660676
266 R>H kidney [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs146578598
CA96656587
266 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1540333
CA356778494
rs185611178
CA2908257
267 V>L lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2908258
rs185611178
267 V>M Variant assessed as Somatic; 0.001435 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2908259
rs750075191
268 G>C No ClinGen
ExAC
gnomAD
rs750075191
CA2908260
268 G>S No ClinGen
ExAC
gnomAD
rs561198097
CA2908261
269 L>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2908262
rs753412403
271 K>E No ClinGen
ExAC
gnomAD
TCGA novel 272 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA96656617
rs528576045
272 E>Q No ClinGen
1000Genomes
TOPMed
rs370605939
CA96656624
279 C>S No ClinGen
ESP
TOPMed
gnomAD
rs201934143
CA2908264
281 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA356778589
rs1461129473
282 R>* No ClinGen
TOPMed
gnomAD
CA356778600
rs1560430191
283 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs760633635
CA2908265
284 T>K No ClinGen
ExAC
gnomAD
rs760633635
CA2908266
284 T>R No ClinGen
ExAC
gnomAD
rs374631722
CA96656627
284 T>S No ClinGen
ESP
CA2908267
rs76089900
287 V>G No ClinGen
1000Genomes
ExAC
gnomAD
CA356778621
rs1336662697
287 V>I No ClinGen
gnomAD
rs890727519
CA96656639
289 G>V No ClinGen
TOPMed
gnomAD
CA356778638
rs747164353
290 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA2908268
rs747164353
290 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA356778637
rs747164353
290 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA2908269
rs200685217
291 V>A No ClinGen
1000Genomes
ExAC
gnomAD
rs776638541
CA2908270
292 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs776638541
CA356778652
292 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA356778648
rs1254868676
292 V>I No ClinGen
gnomAD
rs1398177093
CA356778665
294 A>V No ClinGen
Ensembl
rs757426388
CA2908288
295 G>A No ClinGen
ExAC
gnomAD
CA2908289
rs201618087
296 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1397067052
CA356778704
298 T>I No ClinGen
gnomAD
COSM1429866
rs775497302
CA2908292
304 N>S Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs372137686
CA2908294
305 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA96656712
rs372137686
305 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1295613825
CA356778754
306 G>R No ClinGen
gnomAD
rs766321491
CA2908297
308 R>Q No ClinGen
ExAC
gnomAD
CA2908295
rs773093019
308 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs900203773
CA96656720
309 Y>* No ClinGen
Ensembl
CA2908298
rs138739908
311 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs759172595
COSM268724
CA2908299
311 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1319260001
CA356778789
312 S>G No ClinGen
TOPMed
rs764802901
CA2908300
316 R>K No ClinGen
ExAC
gnomAD
TCGA novel 318 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1188541967
CA356778841
319 N>D No ClinGen
gnomAD
CA2908302
VAR_048387
rs35596623
320 T>I No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA2908303
rs35596623
320 T>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs757594467
CA2908305
324 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs757594467
CA356778877
324 W>C No ClinGen
ExAC
TOPMed
gnomAD
rs1375049585
CA356778884
325 C>F No ClinGen
gnomAD
rs781594438
CA2908306
325 C>W No ClinGen
ExAC
gnomAD
TCGA novel 326 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746096825
CA2908307
326 V>F No ClinGen
ExAC
gnomAD
CA96656747
rs1009918347
327 M>I No ClinGen
gnomAD
CA356778909
rs1275668699
329 L>P No ClinGen
TOPMed
CA2908308
rs756292540
330 V>D No ClinGen
ExAC
gnomAD
CA356778920
rs1359279094
331 I>T No ClinGen
gnomAD
CA356778931
rs1295045253
332 M>I No ClinGen
gnomAD
rs1333506681
CA356778927
332 M>T No ClinGen
TOPMed
rs35012290
CA2908313
337 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_048388
rs35012290
CA2908312
337 A>T No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs766733094
CA96656763
339 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs766733094
CA2908314
339 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA356778987
rs1223958103
340 H>N No ClinGen
TOPMed
CA2908330
rs755089954
343 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs755089954
CA2908329
343 W>L No ClinGen
ExAC
TOPMed
gnomAD
rs770999094
CA2908332
344 L>Q No ClinGen
ExAC
gnomAD
CA2908331
rs139274170
344 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs769666688
CA2908335
349 K>N No ClinGen
ExAC
gnomAD
rs745700006
CA2908334
349 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA356779057
rs1379278368
350 M>K No ClinGen
gnomAD
CA356779054
rs1279903519
350 M>V No ClinGen
TOPMed
rs372209013
CA2908336
352 F>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 353 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1173867819
CA356779086
354 N>D No ClinGen
gnomAD
rs911237323 354 N>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA2908339
rs375885788
354 N>S No ClinGen
ESP
ExAC
gnomAD
CA2908338
rs375885788
354 N>T No ClinGen
ESP
ExAC
gnomAD
CA2908340
rs368872869
355 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1458995636
CA356779097
356 P>S No ClinGen
TOPMed
rs1027687734
CA96656966
357 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA356779103
rs1027687734
357 E>Q No ClinGen
TOPMed
gnomAD
CA356779114
rs1170617893
358 P>L No ClinGen
TOPMed
rs574679729
CA2908342
359 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1432966142
CA356779129
361 H>D No ClinGen
TOPMed
rs766816894
CA2908344
361 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA96656977
rs866399116
362 I>L No ClinGen
Ensembl
CA356779153
rs1277082849
364 S>L No ClinGen
gnomAD
CA96656985
rs966118368
366 L>Q No ClinGen
Ensembl
CA2908346
rs755322897
367 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA2908347
rs550923470
369 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2908348
rs550923470
369 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1195098453
CA356779189
371 Y>H No ClinGen
gnomAD
rs1170351123
CA356779203
372 M>I No ClinGen
gnomAD
CA356779199
rs373358503
372 M>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373358503
CA2908349
372 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1246997944
CA356779197
372 M>V No ClinGen
gnomAD
rs780956265
CA2908350
373 F>L No ClinGen
ExAC
gnomAD
CA356779221
rs1466037390
375 T>A No ClinGen
gnomAD
rs1169874854
CA356779224
375 T>S No ClinGen
gnomAD
TCGA novel 376 M>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745864353
CA2908351
376 M>V No ClinGen
ExAC
gnomAD
CA356779236
rs1462868585
377 I>V No ClinGen
gnomAD
CA96657004
rs964240618
378 I>F No ClinGen
TOPMed
gnomAD
CA356779242
rs964240618
378 I>V No ClinGen
TOPMed
gnomAD
rs1331940936
CA356779252
379 L>F No ClinGen
TOPMed
gnomAD
TCGA novel 382 V>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM84855
CA356779302
rs1215309523
385 P>S Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA2908368
rs758527471
386 I>S No ClinGen
ExAC
gnomAD
CA2908367
rs753004084
386 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1381325935
CA356779317
387 S>F No ClinGen
TOPMed
gnomAD
rs779845954
CA96657073
388 L>V No ClinGen
TOPMed
gnomAD
rs138737356
CA2908373
389 Y>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2908371
rs764289473
389 Y>H No ClinGen
ExAC
gnomAD
rs138737356
CA2908372
389 Y>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA356779341
rs1297607731
392 I>V No ClinGen
gnomAD
COSM1429868
CA2908376
rs754586853
393 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1310439721
CA356779350
393 E>V No ClinGen
gnomAD
CA356779367
rs1335464122
396 K>Q No ClinGen
gnomAD
rs778507335
CA2908377
398 G>V No ClinGen
ExAC
gnomAD
CA2908378
rs747849029
400 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1378404086
CA356779399
400 I>T No ClinGen
TOPMed
rs1354032805
CA356779404
401 Y>C No ClinGen
TOPMed
gnomAD
rs771471852
CA2908379
401 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA2908380
rs772847899
403 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs747410568
CA2908381
404 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA356779447
rs1255469089
407 V>M No ClinGen
gnomAD
CA356779452
rs1486211873
408 D>H No ClinGen
gnomAD
rs1056790780
CA96657099
408 D>V No ClinGen
TOPMed
gnomAD
CA96657106
rs995865598
411 N>D No ClinGen
Ensembl
rs371554019
CA2908382
411 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 412 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2908383
rs200956632
412 E>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs759945258
CA2908384
413 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA2908385
rs765741714
413 K>R No ClinGen
ExAC
gnomAD
CA96657116
rs147390403
414 M>I No ClinGen
1000Genomes
TCGA novel 414 M>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356779501
rs1173662457
415 D>N No ClinGen
gnomAD
rs1402165168
CA356779512
416 S>Y No ClinGen
TOPMed
gnomAD
rs1333730208
CA356779519
417 I>T No ClinGen
gnomAD
CA2908386
rs775839118
417 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA2908387
rs200358319
419 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs764011636
CA2908388
420 C>G No ClinGen
ExAC
gnomAD
rs751670908
CA2908390
421 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA2908391
rs376991791
421 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs776065711
CA96657137
425 I>T No ClinGen
TOPMed
rs778738719
CA2908395
427 E>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 429 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2908396
rs747797887
430 G>E No ClinGen
ExAC
gnomAD
rs1238492373
CA356779603
431 Q>P No ClinGen
gnomAD
rs1236647760
CA356779633
435 L>H No ClinGen
gnomAD
TCGA novel 435 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2908397
rs150738679
435 L>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
CA356779640
rs1317934441
436 F>S No ClinGen
gnomAD
rs777093283
CA2908398
437 S>F No ClinGen
ExAC
gnomAD
CA2908400
rs770384605
438 D>N No ClinGen
ExAC
gnomAD
CA2908402
rs746432231
439 K>E No ClinGen
ExAC
gnomAD
rs1401467288
CA356779659
439 K>R No ClinGen
gnomAD
rs1465497193
CA356779668
440 T>I No ClinGen
gnomAD
rs1369347220
CA356779679
442 T>N No ClinGen
gnomAD
CA2908405
rs370204271
443 L>F No ClinGen
ESP
ExAC
gnomAD
CA2908406
rs768945023
449 V>I No ClinGen
ExAC
gnomAD
CA2908407
rs375420700
451 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2908408
rs375420700
451 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149876632
CA2908409
451 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 451 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1196566227
CA356779756
454 S>G No ClinGen
gnomAD
TCGA novel 456 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2908412
rs764948670
457 G>E No ClinGen
ExAC
gnomAD
CA2908414
rs146396794
459 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA96657191
rs974834968
461 C>F No ClinGen
gnomAD
CA356779815
rs1479504628
462 H>P No ClinGen
gnomAD
CA356779817
rs1196465984
462 H>Q No ClinGen
TOPMed
gnomAD
CA356779813
rs1479504628
462 H>R No ClinGen
gnomAD
CA356779826
rs1262155234
464 E>K No ClinGen
TOPMed
rs1029604668
CA96657194
466 A>S No ClinGen
Ensembl
CA356806207
rs1264025199
467 R>G No ClinGen
gnomAD
rs915869872
CA96630890
467 R>K No ClinGen
TOPMed
rs139734817
CA2908428
467 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1185295382
CA356806216
468 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs551719524
CA2908429
472 Y>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs765184948
CA356806250
473 Q>P No ClinGen
ExAC
gnomAD
CA2908430
rs765184948
473 Q>R No ClinGen
ExAC
gnomAD
rs752397590
CA2908431
476 V>I No ClinGen
ExAC
gnomAD
rs371369194
CA356806290
479 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1298216696
CA356806288
479 D>H No ClinGen
gnomAD
rs371369194
CA2908432
479 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2908437
rs570265180
485 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs570265180
CA2908438
485 T>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2908436
rs756861927
485 T>P No ClinGen
ExAC
gnomAD
TCGA novel 487 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756648919
CA2908439
488 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1455829097
CA356806369
491 S>G No ClinGen
TOPMed
rs749809273
CA2908441
491 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA2908442
rs769051611
492 N>S No ClinGen
ExAC
gnomAD
CA2908443
rs201342683
496 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA356806409
rs201342683
496 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA356806407
rs1178198907
496 P>S No ClinGen
TOPMed
CA2908445
rs772297522
497 R>G No ClinGen
ExAC
gnomAD
CA356806412
rs1379092582
497 R>T No ClinGen
gnomAD
CA96630971
rs946132651
498 A>S No ClinGen
TOPMed
gnomAD
COSM189866
CA356806416
rs946132651
498 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA356806426
rs1359722592
499 P>L No ClinGen
gnomAD
CA356806425
rs1359722592
499 P>R No ClinGen
gnomAD
CA356806428
COSM1055715
rs1300826153
500 S>G Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1300826153
CA356806427
500 S>R No ClinGen
TOPMed
gnomAD
rs771042542
CA2908448
501 C>Y No ClinGen
ExAC
gnomAD
CA356806442
rs1449205291
502 R>G No ClinGen
gnomAD
rs368473880
CA2908449
502 R>K No ClinGen
ESP
ExAC
gnomAD
rs1376252114
CA356806449
503 T>A No ClinGen
gnomAD
rs1222175179
CA356806451
503 T>K No ClinGen
gnomAD
CA356806456
rs1336984892
504 V>F No ClinGen
TOPMed
gnomAD
rs1336984892
CA356806455
504 V>L No ClinGen
TOPMed
gnomAD
rs762862117
CA2908450
505 H>L No ClinGen
ExAC
gnomAD
rs935415055
CA96631001
COSM1694338
505 H>Y Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA356806466
rs375658947
506 N>H No ClinGen
ESP
TOPMed
gnomAD
TCGA novel 506 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1238886179
CA356806469
506 N>S No ClinGen
TOPMed
rs375658947
CA96631013
506 N>Y No ClinGen
ESP
TOPMed
gnomAD
CA2908452
rs763879616
507 G>E No ClinGen
ExAC
gnomAD
rs763879616
CA2908451
507 G>V No ClinGen
ExAC
gnomAD
CA2908454
rs767308709
508 P>S No ClinGen
ExAC
gnomAD
CA356806486
rs1237258989
509 L>W No ClinGen
gnomAD
VAR_048389
rs10003238
CA2908455
511 N>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA356806505
rs1192378861
512 K>T No ClinGen
gnomAD
CA2908457
rs766044821
513 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs755662432
CA2908456
513 P>T No ClinGen
ExAC
gnomAD
rs1402184760
CA356806522
515 N>Y No ClinGen
gnomAD
rs754366272
CA2908458
516 H>R No ClinGen
ExAC
gnomAD
CA356806539
rs1332265720
517 L>P No ClinGen
gnomAD
rs1335445003
CA356806541
518 A>T No ClinGen
TOPMed
gnomAD
rs779280395
CA2908460
519 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs1368400035
CA356806558
520 S>R No ClinGen
gnomAD
VAR_048390
CA2908461
rs6843325
522 F>L No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA356806577
rs1281995538
523 T>N No ClinGen
gnomAD
rs979088273
CA96631052
524 L>V No ClinGen
gnomAD
CA356806596
rs1199716855
526 S>R No ClinGen
gnomAD
rs1158341472
CA356806597
527 G>R No ClinGen
TOPMed
rs200261195
CA2908462
529 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs777944967
CA2908463
531 S>T No ClinGen
ExAC
gnomAD
rs750911845
CA96631072
533 V>M No ClinGen
Ensembl
rs1031184882
CA96631073
534 P>L No ClinGen
TOPMed
CA356806651
rs1477444082
535 H>L No ClinGen
gnomAD
CA356806679
rs1197190099
539 A>V No ClinGen
gnomAD
CA2908465
rs770991094
540 A>S No ClinGen
ExAC
gnomAD
rs1050646175
CA96631079
541 F>L No ClinGen
TOPMed
CA356806696
rs1478011275
542 S>G No ClinGen
gnomAD
rs1472485037
CA356806697
542 S>N No ClinGen
TOPMed
CA2908466
rs776575392
543 S>N No ClinGen
ExAC
gnomAD
rs1256745206
CA356806711
544 P>S No ClinGen
TOPMed
rs201603122
CA2908467
545 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2908489
rs773146199
547 T>A No ClinGen
ExAC
gnomAD
rs1329834300
CA356806986
547 T>R No ClinGen
Ensembl
CA2908491
rs187144508
549 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2908493
rs545511405
553 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 555 L>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs557426590
CA2908494
557 D>A No ClinGen
1000Genomes
ExAC
gnomAD
rs557426590
CA2908495
557 D>G No ClinGen
1000Genomes
ExAC
gnomAD
rs1161921828
CA356807057
558 K>I No ClinGen
gnomAD
rs1420461014
CA356807070
560 S>G No ClinGen
TOPMed
gnomAD
rs1158468055
CA356807071
560 S>T No ClinGen
gnomAD
rs764382228
CA2908497
562 I>S No ClinGen
ExAC
gnomAD
rs751940328
CA356807094
563 T>I No ClinGen
ExAC
gnomAD
rs751940328
CA2908498
563 T>R No ClinGen
ExAC
gnomAD
rs781238830
CA2908501
COSM587404
565 R>L lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781238830
CA2908500
565 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA2908499
rs757458517
565 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA356807106
rs1258869423
566 L>H No ClinGen
gnomAD
CA356807123
rs1216481372
568 M>I No ClinGen
TOPMed
gnomAD
rs1200969926
CA356807153
573 T>P No ClinGen
gnomAD
CA2908502
rs369919671
579 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA356807206
rs1577678685
580 E>G No ClinGen
Ensembl
CA96634934
rs575685869
582 L>S No ClinGen
1000Genomes
gnomAD
CA356807217
rs1181976647
582 L>V No ClinGen
gnomAD
CA356807224
rs1337806910
583 Y>D No ClinGen
TOPMed
rs748032488
CA2908504
584 I>S No ClinGen
ExAC
TOPMed
gnomAD
CA2908503
rs142365853
584 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA96634962
rs200334720
585 I>T No ClinGen
gnomAD
CA356807236
rs1560441760
COSM587403
585 I>V lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs377124199
CA356807247
586 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2908506
COSM279042
rs561130132
586 D>N lung Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA356807251
rs1463340200
587 F>Y No ClinGen
TOPMed
CA356807265
rs1332916523
589 I>V No ClinGen
gnomAD
rs1170208436
CA356807291
593 I>V No ClinGen
TOPMed
rs759295483
CA2908510
596 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1233865444
CA356807318
597 V>I No ClinGen
gnomAD
CA356807324
rs1321114603
598 V>M No ClinGen
gnomAD
CA2908512
rs774990884
599 V>A No ClinGen
ExAC
gnomAD
rs140450965
CA356807342
601 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2908513
rs140450965
601 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 601 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1195444237
CA356807351
602 P>L No ClinGen
gnomAD
rs1435036339
CA356807354
603 N>D No ClinGen
gnomAD
rs1200193047
CA356807356
603 N>S No ClinGen
gnomAD
CA96634982
rs988706879
604 Q>E No ClinGen
TOPMed
gnomAD
rs1469634346
CA356807371
605 P>L No ClinGen
TOPMed
rs201010617
CA2908514
606 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs369968292
CA2908515
606 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs183792861
CA96634990
608 K>R No ClinGen
1000Genomes
rs769505364
CA2908528
610 R>G No ClinGen
ExAC
gnomAD
rs1187065212
CA356807409
COSM1055717
610 R>K Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs774937862
CA2908529
611 H>Q No ClinGen
ExAC
gnomAD
CA96636152
rs894272887
612 P>S No ClinGen
Ensembl
CA356807437
rs1401699385
615 G>E No ClinGen
gnomAD
CA2908532
CA2908534
rs374331628
615 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374331628
CA2908533
615 G>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA356807443
rs1296683648
616 G>V No ClinGen
TOPMed
CA96636188
rs949177657
616 G>W No ClinGen
TOPMed
gnomAD
CA356807451
rs1293671072
617 L>F No ClinGen
gnomAD
TCGA novel 620 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1225860607
CA356807487
623 E>Q No ClinGen
TOPMed
CA2908536
rs773640259
624 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1577681490
CA356807496
624 E>Q No ClinGen
Ensembl
rs760760650
CA2908537
625 I>V No ClinGen
ExAC
gnomAD
rs766741560
CA2908538
626 K>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 629 F>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2908539
rs754142382
631 R>G No ClinGen
ExAC
gnomAD
rs1385811209
CA356807545
631 R>K No ClinGen
TOPMed
CA2908540
rs777603269
635 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA2908541
rs777603269
635 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs202127870
CA2908542
635 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA2908543
rs150390133
636 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA356807580
rs1167159200
637 S>P No ClinGen
TOPMed
CA2908544
rs780831455
638 S>G No ClinGen
ExAC
gnomAD
CA356807587
rs1451745473
638 S>N No ClinGen
TOPMed
rs552234860
CA2908545
640 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA2908546
rs755937043
641 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA2908548
rs377407484
642 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2908549
rs768089566
642 L>P No ClinGen
ExAC
gnomAD
rs773977729
CA2908550
643 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA356807626
rs1451571014
644 S>R No ClinGen
gnomAD
CA96636308
rs1006327870
648 P>S No ClinGen
Ensembl
CA2908552
rs772682363
651 G>R No ClinGen
ExAC
gnomAD
TCGA novel 653 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA96636315
rs111616775
654 N>D No ClinGen
TOPMed
gnomAD
CA2908554
rs768333726
655 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA356807708
rs1285076156
657 V>G No ClinGen
gnomAD
rs1316807130
CA356807712
658 S>G No ClinGen
gnomAD
rs1214277373
CA356807720
659 R>K No ClinGen
gnomAD
rs1214277373
CA356807721
659 R>T No ClinGen
gnomAD
rs1344047708
CA356807729
660 L>P No ClinGen
TOPMed
CA2908556
rs373967400
661 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2908557
rs373967400
661 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2908558
rs765398868
662 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA356807739
rs1240935472
662 L>R No ClinGen
gnomAD
rs142235555
CA96636348
665 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2908560
rs146116655
665 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM3696794
CA2908561
rs146116655
665 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1349287195
CA356807759
666 M>V No ClinGen
TOPMed
rs374215434
CA2908565
668 P>L No ClinGen
ESP
ExAC
gnomAD
CA2908564
rs374215434
668 P>Q No ClinGen
ESP
ExAC
gnomAD
rs1432092677
CA356807780
669 A>P No ClinGen
TOPMed
TCGA novel 669 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 670 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2908566
rs187355739
671 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2908567
rs187355739
671 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs558782821
CA96636386
672 V>A No ClinGen
TOPMed
rs1404114541
CA356807795
672 V>M No ClinGen
gnomAD
CA356807811
rs1199731546
674 E>A No ClinGen
TOPMed
CA2908569
rs778264598
676 V>I No ClinGen
ExAC
gnomAD
rs1372712477
CA356807831
677 S>P No ClinGen
gnomAD
TCGA novel 678 Q>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356807855
rs1560443768
680 C>W No ClinGen
Ensembl
rs201572653
CA96636434
680 C>Y No ClinGen
TOPMed
gnomAD
rs1447271327
CA356807862
681 E>D No ClinGen
gnomAD
TCGA novel 682 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2908571
rs149296162
682 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2908572
rs199600119
683 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA356807883
rs1446301761
684 Q>H No ClinGen
Ensembl
TCGA novel 684 Q>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771352321
CA2908574
686 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA2908575
rs777199623
687 S>G No ClinGen
ExAC
gnomAD
rs759814894
CA2908576
687 S>N No ClinGen
ExAC
gnomAD
CA2908577
rs770185124
691 C>R No ClinGen
ExAC
gnomAD
rs775609445
CA2908578
692 C>W No ClinGen
ExAC
gnomAD
rs763041773
CA2908579
694 E>D No ClinGen
ExAC
gnomAD
rs1173935058
CA356807962
696 E>D No ClinGen
gnomAD
TCGA novel 697 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs568662009
CA2908581
698 Q>E No ClinGen
1000Genomes
ExAC
gnomAD
rs568662009
CA2908582
698 Q>K No ClinGen
1000Genomes
ExAC
gnomAD
rs1257420954
CA356807975
698 Q>R No ClinGen
TOPMed
CA96636472
rs968849661
699 H>R No ClinGen
TOPMed
gnomAD
CA356807980
rs1329856036
699 H>Y No ClinGen
TOPMed
gnomAD
CA96636477
rs977212677
700 G>S No ClinGen
TOPMed
gnomAD
CA96636479
rs924239323
701 D>A No ClinGen
Ensembl
CA2908584
rs753682058
702 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs201846331
CA2908585
703 G>A No ClinGen
1000Genomes
ExAC
gnomAD
rs201846331
CA2908586
703 G>D No ClinGen
1000Genomes
ExAC
gnomAD
rs201846331
CA356808005
703 G>V No ClinGen
1000Genomes
ExAC
gnomAD
CA96636500
rs959700331
704 L>F No ClinGen
Ensembl
rs752313490
CA2908587
704 L>H No ClinGen
ExAC
gnomAD
CA96636512
rs990505011
707 G>D No ClinGen
TOPMed
gnomAD
CA2908588
rs200916542
707 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA96636515
rs992491743
709 A>T No ClinGen
TOPMed
rs1223062898
CA356808042
710 E>K No ClinGen
gnomAD
rs1223062898
CA356808040
710 E>Q No ClinGen
gnomAD
TCGA novel 711 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM734317
CA2908589
rs143517951
711 S>F lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1577682031
CA356808058
712 L>P No ClinGen
Ensembl
CA2908590
rs147997626
715 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA356808078
rs34208443
716 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2908592
rs781668803
COSM339172
716 P>L lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
VAR_048391
rs34208443
CA2908591
716 P>T No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1328359352
CA356808085
717 L>S No ClinGen
gnomAD
rs555216718
CA96636536
719 C>R No ClinGen
Ensembl
VAR_048392
rs34169638
CA2908593
720 N>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1168683708
CA356808110
721 L>V No ClinGen
gnomAD
rs369950538
CA96636541
724 E>D No ClinGen
1000Genomes
ExAC
gnomAD
CA356808130
rs1419141118
724 E>K No ClinGen
gnomAD
rs909732631
CA356808143
726 E>K No ClinGen
TOPMed
gnomAD
rs909732631
CA96636553
726 E>Q No ClinGen
TOPMed
gnomAD
rs936551540
CA96636554
727 S>N No ClinGen
TOPMed
gnomAD
rs139768206
CA2908598
730 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA96636559
rs112408159
731 A>T No ClinGen
Ensembl
rs371299383
CA2908599
731 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs753802742
CA2908601
733 L>F No ClinGen
ExAC
gnomAD
CA356808196
rs1266937748
734 V>L No ClinGen
TOPMed
gnomAD
rs1266937748
CA356808194
734 V>M No ClinGen
TOPMed
gnomAD
CA356808204
rs1342640224
735 Y>C No ClinGen
TOPMed
rs932629300
CA96636563
736 A>V No ClinGen
TOPMed
rs374921883
CA2908604
737 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2908603
rs374921883
737 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA356808224
rs1447346324
739 A>S No ClinGen
TOPMed
gnomAD
rs1240177496
CA356808235
740 Y>F No ClinGen
gnomAD
CA356808259
rs1185673663
743 T>I No ClinGen
gnomAD
rs1162198061
CA356808269
745 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs368001466
CA2908605
745 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1471734347
CA356808275
746 S>C No ClinGen
TOPMed
CA356808272
rs1387713450
746 S>P No ClinGen
gnomAD
rs756861814
CA2908609
747 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs146146861
CA96636592
747 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
rs756861814
CA2908608
747 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA96636608
rs113146367
752 V>A No ClinGen
Ensembl
rs1454230675
CA356808313
753 M>V No ClinGen
gnomAD
rs756436780
CA2908611
755 D>N No ClinGen
ExAC
gnomAD
CA356808335
rs1560444213
756 F>L No ClinGen
Ensembl
CA356808338
rs1464982293
756 F>S No ClinGen
TOPMed
rs375583564
CA2908612
757 A>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA356808346
rs1560444234
757 A>V No ClinGen
Ensembl
rs200095375
CA2908614
760 G>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA356808367
rs1351263870
761 P>S No ClinGen
gnomAD
CA356808365
rs1351263870
761 P>T No ClinGen
gnomAD
rs1285199096
CA356808383
763 T>I No ClinGen
TOPMed
TCGA novel 767 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768407090
CA96636629
768 H>P No ClinGen
Ensembl
CA96636634
rs1012032831
771 P>S No ClinGen
TOPMed
rs1391680586
CA356808456
774 S>L No ClinGen
gnomAD
CA2908619
rs776492459
775 V>A No ClinGen
ExAC
gnomAD
CA2908620
rs764990155
780 S>ATQI* No ClinGen
ExAC
CA2908621
rs750041884
782 V>Q No ClinGen
ExAC
CA2908623
rs74552892
784 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA356808519
rs796765340
784 R>P No ClinGen
TOPMed
gnomAD
rs796765340
CA96636646
784 R>Q No ClinGen
TOPMed
gnomAD
rs1349388348
CA356808526
785 H>Q No ClinGen
TOPMed
rs1031416276
CA96636650
786 P>L No ClinGen
TOPMed
gnomAD
rs1470764324
CA356808533
787 L>V No ClinGen
gnomAD
rs541304180
CA2908624
789 N>H No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 790 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356808568
rs1286311938
792 V>L No ClinGen
TOPMed
rs751282807
CA2908627
793 V>A No ClinGen
ExAC
gnomAD
rs149814216
CA2908626
793 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149814216
CA356808572
793 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2908628
rs756771703
794 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA2908629
rs767141536
795 T>M No ClinGen
ExAC
gnomAD
CA356808583
rs1245693955
795 T>P No ClinGen
TOPMed
CA356808592
rs1326405821
796 K>R No ClinGen
TOPMed
gnomAD
rs780443888
CA2908632
798 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs749654029
CA2908633
800 S>A No ClinGen
ExAC
gnomAD
CA2908634
rs755400903
803 M>V No ClinGen
ExAC
gnomAD
COSM279043
CA2908635
rs145762869
807 S>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2908638
rs772070379
808 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA2908637
rs772070379
808 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1438529223
CA356808672
809 A>S No ClinGen
gnomAD
rs76810881
CA96636728
810 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA2908639
rs745800917
811 P>A No ClinGen
ExAC
TOPMed
rs267600170
CA96636746
811 P>L No ClinGen
Ensembl
CA356808714
rs1380576628
814 A>V No ClinGen
Ensembl
rs879317697
CA96637075
815 S>T No ClinGen
Ensembl
CA356808724
rs1200800874
816 L>M No ClinGen
gnomAD
CA356808725
rs1200800874
816 L>V No ClinGen
gnomAD
CA2908655
rs777803503
817 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA356808734
rs1341152822
817 E>D No ClinGen
TOPMed
rs377230023
CA2908654
817 E>K No ClinGen
ESP
ExAC
TOPMed
CA2908656
rs747095677
819 Q>R No ClinGen
ExAC
gnomAD
CA356808800
rs1161836013
826 K>I No ClinGen
gnomAD
rs779801543
CA2908658
828 Q>* No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 828 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356808812
rs1165585596
828 Q>R No ClinGen
gnomAD
CA356808824
rs749255964
830 H>N No ClinGen
ExAC
TOPMed
gnomAD
rs768568217
CA2908660
830 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA2908659
rs749255964
830 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA2908661
rs774348386
831 L>S No ClinGen
ExAC
TOPMed
gnomAD
rs895999196
CA96637128
831 L>V No ClinGen
Ensembl
CA2908662
rs761536056
832 D>G No ClinGen
ExAC
gnomAD
CA2908664
rs772948636
833 D>E No ClinGen
ExAC
gnomAD
CA356808857
rs1276798692
835 A>T No ClinGen
Ensembl
CA356808870
rs1306613768
836 K>N No ClinGen
TOPMed
rs1327211280
CA356808881
838 G>C No ClinGen
gnomAD
rs1560444953
CA356808888
839 L>H No ClinGen
Ensembl
CA2908665
rs760054397
840 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs765924864
CA2908666
840 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754230088
CA2908667
843 C>R No ClinGen
ExAC
gnomAD
CA2908668
rs760099733
845 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs1560444985
CA356808935
847 K>Q No ClinGen
Ensembl
rs1246866348
CA356808956
848 V>I No ClinGen
gnomAD
CA356808963
rs138361998
849 M>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2908687
rs138361998
849 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1047121089
CA96638098
850 S>N No ClinGen
Ensembl
rs1358252847
CA356808970
850 S>R No ClinGen
TOPMed
rs1320373884
CA356808977
851 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA2908688
rs776005074
852 T>P No ClinGen
ExAC
gnomAD
TCGA novel 853 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1485783508
CA356809007
855 A>P No ClinGen
gnomAD
rs1485783508
CA356809006
855 A>T No ClinGen
gnomAD
CA356809020
rs1206402618
857 W>R No ClinGen
gnomAD
rs1244645439
CA356809029
858 L>M No ClinGen
gnomAD
TCGA novel 858 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2908690
rs764528510
859 R>G No ClinGen
ExAC
gnomAD
CA2908691
rs751728626
859 R>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 859 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2908692
rs757559049
860 N>D No ClinGen
ExAC
gnomAD
CA356809059
rs1420746815
862 F>C No ClinGen
gnomAD
rs147675892
CA2908693
867 S>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs147675892
CA356809093
867 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2908694
rs750571239
868 I>V No ClinGen
ExAC
gnomAD
rs1318759213
CA356809135
873 E>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA2908695
rs756293578
876 L>F No ClinGen
ExAC
gnomAD
rs1347388222
CA356809158
877 E>K No ClinGen
TOPMed
rs142329918
CA2908697
880 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2908696
rs778944480
880 M>T No ClinGen
ExAC
gnomAD
rs1577685570
CA356809199
883 E>K No ClinGen
Ensembl
rs758198011
CA2908698
884 N>D No ClinGen
ExAC
gnomAD
rs1308381593
CA356809224
886 L>F No ClinGen
gnomAD
CA2908699
rs777689738
887 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs746625584
CA2908700
887 T>I No ClinGen
ExAC
gnomAD
rs746625584
CA356809230
887 T>K No ClinGen
ExAC
gnomAD
rs1461439449
CA356809232
888 L>I No ClinGen
gnomAD
CA356809275
rs1175073653
893 G>C No ClinGen
TOPMed
rs984988802
CA96639592
894 I>V No ClinGen
gnomAD
CA96639595
rs573220898
895 E>G No ClinGen
gnomAD
rs1454371202
CA356809285
895 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1190803902
COSM1184004
CA356809302
897 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs746857968
CA2908720
897 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs746857968
CA2908721
897 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA356809339
rs1251793068
903 P>S No ClinGen
TOPMed
CA2908724
rs769294120
906 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA356809358
rs1428370586
906 I>V No ClinGen
gnomAD
CA356809376
rs1346511561
908 A>V No ClinGen
TOPMed
gnomAD
rs147847026
CA2908725
910 H>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA356809395
rs1273466768
911 K>I No ClinGen
gnomAD
CA96639607
rs200004371
912 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
TCGA novel 913 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA96639608
rs903422570
914 I>V No ClinGen
TOPMed
rs1271663804
CA356809427
916 I>T No ClinGen
gnomAD
CA2908727
rs769247728
918 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs774752451
CA2908728
921 G>E No ClinGen
ExAC
gnomAD
rs543298578
CA96639620
923 K>Q No ClinGen
1000Genomes
CA356809482
rs1490171560
924 Q>R No ClinGen
gnomAD
rs762188924
CA2908729
925 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA356809488
rs762188924
925 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs914530009
CA96639623
925 E>Q No ClinGen
Ensembl
rs1243636611
CA356809496
926 T>R No ClinGen
gnomAD
rs371722384
CA2908731
928 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2908732
rs761045453
929 N>D No ClinGen
ExAC
gnomAD
rs1314371912
CA356809512
929 N>S No ClinGen
TOPMed
rs1447780613
CA356809520
930 I>T No ClinGen
gnomAD
rs754016049
CA2908734
933 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1041556197
CA96639634
933 A>V No ClinGen
Ensembl
CA356809542
rs1156314506
934 C>R No ClinGen
TOPMed
CA2908735
rs762763809
935 K>E No ClinGen
ExAC
gnomAD
rs1227461430
CA356809585
940 D>E No ClinGen
TOPMed
gnomAD
rs757014135
CA2908738
940 D>N No ClinGen
ExAC
gnomAD
CA2908739
rs781034898
942 K>* No ClinGen
ExAC
gnomAD
rs781034898
CA356809596
942 K>Q No ClinGen
ExAC
gnomAD
rs750067673
CA2908740
943 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs996516884
CA96639652
948 T>A No ClinGen
TOPMed
rs1207999725
CA356809649
950 S>R No ClinGen
gnomAD
rs1295127182
CA356809658
951 K>E No ClinGen
gnomAD
CA356809686
rs1315562617
953 A>T No ClinGen
Ensembl
CA356809696
rs1441954415
954 C>S No ClinGen
gnomAD
CA2908761
rs543911299
956 M>K No ClinGen
1000Genomes
ExAC
gnomAD
rs754442232
CA2908763
958 M>T No ClinGen
ExAC
gnomAD
CA2908764
rs17462252
VAR_048393
959 S>N No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1410227429
CA356809737
960 T>I No ClinGen
gnomAD
CA356809739
rs1410227429
960 T>K No ClinGen
gnomAD
rs199756910
CA2908765
961 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA356809751
rs1356644065
962 L>F No ClinGen
TOPMed
CA356809773
rs1329913022
965 L>P No ClinGen
TOPMed
CA2908766
rs368388765
966 Q>E No ClinGen
ESP
ExAC
gnomAD
CA356809802
rs778247674
969 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA2908767
rs778247674
969 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs747333512
CA2908768
970 Q>* No ClinGen
ExAC
gnomAD
rs1178722673
CA356809816
972 L>M No ClinGen
TOPMed
rs1409139438
CA356809821
973 P>T No ClinGen
TOPMed
gnomAD
CA356809842
rs1286164643
975 Q>H No ClinGen
gnomAD
rs1225545531
CA356809862
979 S>G No ClinGen
gnomAD
rs746146079
CA2908771
979 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA356809881
rs1000995997
981 D>A No ClinGen
TOPMed
CA96641866
rs1000995997
981 D>G No ClinGen
TOPMed
CA2908772
rs769906876
983 L>P No ClinGen
ExAC
gnomAD
CA356809910
rs1198762320
985 P>L No ClinGen
gnomAD
rs1198988721
CA356809906
985 P>S No ClinGen
TOPMed
CA2908773
rs137994896
987 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs137994896
CA356809917
987 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2908774
rs137994896
987 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2908778
rs760406341
988 P>R No ClinGen
ExAC
CA2908777
rs773155936
988 P>S No ClinGen
ExAC
gnomAD
rs753524004
CA356809925
989 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2908781
rs754642932
989 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs753524004
CA2908780
989 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA2908782
rs764782844
990 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs1396613226
CA356809940
991 S>L No ClinGen
gnomAD
TCGA novel 993 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200863114
CA2908784
994 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2908786
rs147568390
994 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs147568390
CA356809957
994 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs147568390
CA2908785
994 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 995 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2908788
rs757625655
996 G>A No ClinGen
ExAC
gnomAD
CA2908787
rs757625655
996 G>V No ClinGen
ExAC
gnomAD
CA356809989
rs1466694912
997 L>F No ClinGen
TOPMed
CA356810003
rs1344693454
998 I>V No ClinGen
TOPMed
CA356810022
rs1560450614
999 I>T No ClinGen
Ensembl
rs1389012626
CA356810035
1000 T>N No ClinGen
gnomAD
rs866286118
CA96641947
1001 G>W No ClinGen
Ensembl
rs769954709
CA2908790
1002 K>R No ClinGen
ExAC
gnomAD
rs1231349219
CA356810070
1003 T>I No ClinGen
gnomAD
CA356810075
rs144659641
1004 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2908791
rs144659641
1004 L>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA356810119
rs1205040394
1007 A>S No ClinGen
gnomAD
rs768736337
CA356810130
1008 L>M No ClinGen
ExAC
gnomAD
CA356810135
rs1417264372
1008 L>P No ClinGen
TOPMed
rs768736337
CA2908793
1008 L>V No ClinGen
ExAC
gnomAD
CA356810169
rs1179067660
1010 E>D No ClinGen
TOPMed
rs1490991214
CA356810165
1010 E>G No ClinGen
TOPMed
gnomAD
rs1490991214
CA356810167
1010 E>V No ClinGen
TOPMed
gnomAD
rs773068101
CA2908794
1015 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs372690498
CA2908795
1015 Q>P No ClinGen
ESP
ExAC
gnomAD
rs372690498
CA356810227
1015 Q>R No ClinGen
ESP
ExAC
gnomAD
CA2908797
rs776339727
1016 F>L No ClinGen
ExAC
rs759195174
CA2908798
1018 E>K No ClinGen
ExAC
gnomAD
rs201412941
CA2908799
1019 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs752412350
CA2908800
1021 S>P No ClinGen
ExAC
gnomAD
CA356810312
rs1166196070
1022 W>* No ClinGen
gnomAD
rs1367324670
CA356810317
1023 C>G No ClinGen
gnomAD
rs1372854029
CA356810323
1023 C>Y No ClinGen
gnomAD
TCGA novel 1027 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752102562
CA356810435
1030 R>* No ClinGen
ExAC
gnomAD
rs752102562
CA2908803
1030 R>G No ClinGen
ExAC
gnomAD
rs138541186
CA2908804
1030 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA356810483
rs1289032538
1033 P>L No ClinGen
Ensembl
CA356810493
rs1231233404
1034 L>R No ClinGen
TOPMed
gnomAD
CA2908806
rs202123877
1037 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs1362139707
CA356810589
1041 K>Q No ClinGen
gnomAD
rs565285972
CA96642077
1043 V>I No ClinGen
1000Genomes
rs532632251
CA2908808
1044 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs749518084
CA2908809
1044 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA356810650
rs749518084
1044 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA2908810
rs768719800
1045 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA96642087
rs937038620
1046 H>N No ClinGen
TOPMed
CA2908811
rs779020702
1047 L>F No ClinGen
ExAC
gnomAD
CA2908812
rs188036119
1048 Q>H No ClinGen
1000Genomes
ExAC
gnomAD
rs568892444
CA2908813
1049 V>M No ClinGen
1000Genomes
ExAC
gnomAD
rs776661621
CA2908814
1050 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA356810749
rs1159192186
1051 T>I No ClinGen
TOPMed
CA2908816
rs193079887
1052 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2908833
rs372999962
1055 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2908832
rs372999962
1055 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2908834
rs769469125
1056 D>E No ClinGen
ExAC
TCGA novel 1057 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356811041
rs1292718743
1058 A>T No ClinGen
gnomAD
rs775477328
CA2908835
1058 A>V Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1226154872
CA356811047
1059 N>D No ClinGen
gnomAD
rs200697091
CA2908836
1060 D>E No ClinGen
1000Genomes
ExAC
gnomAD
rs1312435031
CA356811069
1062 S>N No ClinGen
TOPMed
gnomAD
CA356811075
rs1208769164
1063 M>V No ClinGen
gnomAD
rs768386807
CA2908837
1064 I>M No ClinGen
ExAC
gnomAD
CA356811098
rs1160543659
1066 V>L No ClinGen
TOPMed
CA356811115
rs1470606512
1068 D>E No ClinGen
TOPMed
rs1481542324
CA356811109
1068 D>N No ClinGen
gnomAD
CA356811118
rs1368019013
1069 I>V No ClinGen
TOPMed
CA356811127
rs1182887197
1070 G>E No ClinGen
gnomAD
CA356811140
rs1471512221
1072 G>E No ClinGen
gnomAD
CA96646859
rs907291448
1073 V>F No ClinGen
TOPMed
gnomAD
rs907291448
CA356811143
1073 V>I No ClinGen
TOPMed
gnomAD
CA2908838
rs774174090
1076 Q>P No ClinGen
ExAC
gnomAD
CA356811163
rs774174090
1076 Q>R No ClinGen
ExAC
gnomAD
CA2908840
COSM1670999
rs761170058
CA356811200
1079 M>I lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA2908841
rs767060029
1080 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs1016794326
CA96647578
1081 A>T No ClinGen
Ensembl
rs1435308458
CA356811358
1084 A>S No ClinGen
gnomAD
rs1463943693
CA356811374
1085 S>N No ClinGen
TOPMed
rs182459999
CA96647584
1087 F>L No ClinGen
1000Genomes
rs376165524
CA2908863
1089 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs376165524
CA96647619
1089 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA96647623
rs993482092
1091 Q>* No ClinGen
gnomAD
rs777145546
CA2908864
1091 Q>H No ClinGen
ExAC
gnomAD
rs759832169
CA2908865
1092 F>I No ClinGen
ExAC
rs1452868814
CA356811487
1093 K>R No ClinGen
TOPMed
rs765587732
CA2908867
1099 L>I No ClinGen
ExAC
gnomAD
rs148784624
CA356811606
1102 H>D No ClinGen
ESP
ExAC
gnomAD
rs148784624
CA2908870
1102 H>N No ClinGen
ESP
ExAC
gnomAD
rs751621741
CA2908871
1102 H>P No ClinGen
ExAC
gnomAD
CA356811618
rs757438980
1102 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA356811644
rs1448190877
1104 H>R No ClinGen
TOPMed
gnomAD
CA2908873
rs780086835
1105 W>* No ClinGen
ExAC
gnomAD
CA2908874
rs749242976
1105 W>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1209884622
CA356811654
1105 W>R No ClinGen
TOPMed
rs778911658
CA2908877
COSM1186565
1109 R>W lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs868689531
CA96647711
1111 S>T No ClinGen
Ensembl
rs747735220
CA2908878
1112 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA2908879
rs771795320
1114 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA356811800
rs1184910645
1115 L>F No ClinGen
TOPMed
gnomAD
CA356811798
rs1184910645
1115 L>V No ClinGen
TOPMed
gnomAD
CA2908880
rs141533238
1116 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1117 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746477757
CA2908881
1120 K>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1120 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777051830
CA356811902
1121 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA2908882
rs371072531
1121 N>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778542947
CA2908895
1124 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs778542947
CA356812078
1124 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs1289969697
CA356812090
1126 N>Y No ClinGen
gnomAD
CA2908896
rs548527000
1130 W>* No ClinGen
1000Genomes
ExAC
gnomAD
CA96650419
rs780175920
1130 W>R No ClinGen
TOPMed
gnomAD
rs758149277
CA2908897
1132 Q>P No ClinGen
ExAC
gnomAD
CA2908898
COSM1055722
rs777425761
1133 F>L Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 1135 C>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356812192
rs1442335423
1140 T>I No ClinGen
TOPMed
gnomAD
CA356812225
rs1471185314
1145 Y>C No ClinGen
TOPMed
CA96650456
rs113342735
1145 Y>H No ClinGen
Ensembl
rs139349772
CA2908902
1147 V>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2908901
rs373789759
1147 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA356812258
rs1473150805
1150 F>V No ClinGen
gnomAD
CA356812271
rs1468797852
1151 F>L No ClinGen
TOPMed
rs775887388
CA2908904
1152 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs145477523
CA2908905
1153 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA96650491
rs532360506
1154 L>P No ClinGen
Ensembl
rs768910963
CA2908906
1156 T>A No ClinGen
ExAC
gnomAD
CA2908907
rs774629337
1156 T>I No ClinGen
ExAC
gnomAD
rs1441862262
CA356812317
1159 P>L No ClinGen
TOPMed
CA2908908
rs762184323
1161 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs767684890
CA2908909
1162 I>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA356812340
rs1408944862
1163 Y>C No ClinGen
TOPMed
gnomAD
CA356812339
rs1408944862
1163 Y>S No ClinGen
TOPMed
gnomAD
TCGA novel 1166 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA96650512
rs916389468
1167 E>K No ClinGen
Ensembl
CA356812383
rs1275505013
1169 D>E No ClinGen
TOPMed
gnomAD
CA2908911
rs750573173
1169 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1235768737
CA356812380
1169 D>V No ClinGen
gnomAD
rs760867195
CA2908912
1170 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs760867195
CA356812385
1170 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA356812398
rs1209322214
1172 A>E No ClinGen
gnomAD
rs112973469
CA96650551
1172 A>T No ClinGen
Ensembl
CA2908913
rs765171447
1175 L>F No ClinGen
ExAC
gnomAD
rs1204800239
CA356812433
1177 Q>R No ClinGen
gnomAD
rs16851681
VAR_048394
CA2908915
1183 R>K No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA96650605
rs768976888
1186 Q>E No ClinGen
TOPMed
gnomAD
rs370383541
CA2908916
1188 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1476784491
CA356812515
1189 E>D No ClinGen
gnomAD
rs751195786
CA2908917
1189 E>K No ClinGen
ExAC
TCGA novel 1189 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767100122
CA2908939
1193 P>S No ClinGen
ExAC
gnomAD
CA356812562
rs1322625448
1194 H>Q No ClinGen
gnomAD
rs367938126
CA2908941
1196 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1366110011
CA356812573
1196 F>S No ClinGen
gnomAD
rs749783360
CA2908943
1200 L>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1202 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1265235691
CA356812622
1203 A>G No ClinGen
gnomAD
CA2908945
rs779597466
1205 Y>C No ClinGen
ExAC
gnomAD
CA356812635
rs779597466
1205 Y>F No ClinGen
ExAC
gnomAD
rs756110526
CA2908944
1205 Y>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1205 Y>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM4135794
rs1248068977
CA356812640
1206 Q>E ovary [Cosmic] No ClinGen
cosmic curated
gnomAD
CA356812639
rs1248068977
1206 Q>K No ClinGen
gnomAD
CA2908946
rs748472082
1207 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs1214135241
CA356812655
1208 L>V No ClinGen
TOPMed
rs1326952580
CA356812665
1210 C>G No ClinGen
gnomAD
rs1184275465
CA356812676
1211 F>Y No ClinGen
gnomAD
CA356812693
rs1255824094
1213 V>A No ClinGen
TOPMed
rs772575410
CA2908947
1216 F>L No ClinGen
ExAC
gnomAD
rs1280164274
CA356812742
1217 T>A No ClinGen
TOPMed
gnomAD
rs1214459150
CA356812754
1218 Y>C No ClinGen
TOPMed
rs753249993
CA2908961
1218 Y>H No ClinGen
ExAC
gnomAD
CA96653460
rs144576632
1219 Q>* No ClinGen
ESP
ExAC
gnomAD
CA2908963
rs144576632
1219 Q>E No ClinGen
ESP
ExAC
gnomAD
rs149003357
CA2908964
1220 G>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs758828166
CA2908965
1222 D>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
COSM1495764
rs1302821257
CA356812811
1223 T>I kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA96653465
rs760164138
1224 D>E No ClinGen
Ensembl
rs371755728
CA96653466
1225 I>V No ClinGen
ESP
rs1374190568
CA356812839
1226 F>Y No ClinGen
TOPMed
gnomAD
rs1560458023
CA356812861
1228 F>L No ClinGen
Ensembl
CA356812893
rs1577708375
1230 N>K No ClinGen
Ensembl
rs1199907836
CA356812891
1230 N>T No ClinGen
TOPMed
CA2908967
rs565136756
1231 P>H No ClinGen
1000Genomes
ExAC
gnomAD
CA356812903
rs565136756
1231 P>R No ClinGen
1000Genomes
ExAC
gnomAD
CA356812897
rs1412017550
1231 P>T No ClinGen
gnomAD
rs375013581
CA2908968
1233 N>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375013581
CA356812920
1233 N>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1001170350
CA96653476
1234 T>I No ClinGen
Ensembl
CA356812926
rs1221771172
1234 T>P No ClinGen
gnomAD
rs762466294
CA2908970
1236 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs769868948
CA2908971
1236 A>V No ClinGen
ExAC
gnomAD
rs761798082
CA2908973
1237 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs200439351
CA2908976
1240 V>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
VAR_020187
rs1058793
CA2908975
1240 V>I No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 1242 L>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1175774910
CA356813013
1242 L>F No ClinGen
gnomAD
rs765901941
CA356813028
1243 H>L No ClinGen
ExAC
TOPMed
gnomAD
rs765901941
CA2908977
1243 H>P No ClinGen
ExAC
TOPMed
gnomAD
rs1433792203
CA356813051
1246 I>V No ClinGen
gnomAD
CA96653513
rs1025468444
1248 S>T No ClinGen
TOPMed
rs753538738
CA2908978
1249 K>R No ClinGen
ExAC
gnomAD
rs375191152
CA96653528
COSM4135795
1251 L>F ovary [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1255 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1258 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1260 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776140901
CA2908996
1260 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA356813512
rs1359813790
1260 I>V No ClinGen
gnomAD
TCGA novel 1262 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2908997
rs200363788
1264 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA356813537
rs1290341699
1264 L>M No ClinGen
gnomAD
CA356813540
rs1478154469
1264 L>S No ClinGen
TOPMed
rs1247555474
CA356813569
1268 L>* No ClinGen
TOPMed
CA356813572
rs1204235586
1269 F>I No ClinGen
TOPMed
rs764814212
CA2908998
1271 I>T No ClinGen
ExAC
gnomAD
TCGA novel 1273 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356813609
rs1271318523
1274 G>E No ClinGen
gnomAD
CA2908999
rs752294717
1275 A>V No ClinGen
ExAC
gnomAD
CA2909001
rs764644710
1277 C>F No ClinGen
ExAC
gnomAD
TCGA novel 1279 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2909002
rs752113748
1279 T>P No ClinGen
ExAC
gnomAD
rs757558783
CA2909003
1280 C>Y No ClinGen
ExAC
gnomAD
rs1415055125
CA356813653
1281 N>Y No ClinGen
gnomAD
CA356813663
rs1436464470
1282 P>R No ClinGen
TOPMed
rs1390182097
CA356813682
1285 N>K No ClinGen
gnomAD
rs750588188
CA2909005
1285 N>S No ClinGen
ExAC
gnomAD
rs756372515
CA356813687
1286 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA2909006
rs756372515
1286 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA2909008
rs537212141
1287 Y>H No ClinGen
1000Genomes
ExAC
gnomAD
rs1280805319
CA356813691
1287 Y>S No ClinGen
TOPMed
CA96655330
rs971757121
1289 I>L No ClinGen
Ensembl
rs1224880785
CA356813716
1290 M>R No ClinGen
TOPMed
CA96655337
rs865781144
1292 E>K No ClinGen
Ensembl
rs919139787
CA96655342
1293 H>D No ClinGen
TOPMed
CA96655358
rs954609099
1293 H>R No ClinGen
Ensembl
CA2909011
rs777503185
1294 M>V No ClinGen
ExAC
gnomAD
CA2909012
rs747031885
1295 L>P No ClinGen
ExAC
gnomAD
TCGA novel 1299 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745485512
CA2909015
1300 Y>C No ClinGen
ExAC
gnomAD
CA356813799
rs1577713706
1302 V>A No ClinGen
Ensembl
rs1283669323
CA356813803
1303 C>G No ClinGen
gnomAD
rs769530760
CA2909016
1304 I>T No ClinGen
ExAC
rs556426025
CA2909018
1306 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs371160449
CA2909020
1307 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1469221831
CA356813826
1307 T>P No ClinGen
TOPMed
rs1157466045
CA356813843
1309 I>M No ClinGen
gnomAD
CA356813867
rs1416067564
1314 R>G No ClinGen
gnomAD
rs923658608
CA96656618
1315 F>L No ClinGen
TOPMed
rs1328496271
CA356814348
1316 V>I No ClinGen
gnomAD
rs1328496271
CA356814347
1316 V>L No ClinGen
gnomAD
CA2909038
rs761263984
1317 Y>* No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1317 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356814370
rs1438616399
1318 R>G No ClinGen
gnomAD
rs1325932428
CA356814405
1321 Q>E No ClinGen
gnomAD
CA2909039
rs202051358
1322 G>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2909040
rs202051358
1322 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2909041
rs760966304
1329 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA2909043
rs754044679
1331 R>K No ClinGen
ExAC
gnomAD
CA96656638
rs952386230
1332 A>G No ClinGen
gnomAD
CA96656636
rs867726239
1332 A>S No ClinGen
Ensembl
CA96656629
rs867726239
1332 A>T No ClinGen
Ensembl
TCGA novel 1333 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356814556
rs1351758401
1334 H>Q No ClinGen
gnomAD
CA2909045
rs765197408
1336 D>E No ClinGen
ExAC
gnomAD
TCGA novel 1336 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755272519
CA2909044
1336 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs758429900
CA2909047
1340 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs758429900
CA2909048
1340 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs750389206
CA2909049
1342 E>G No ClinGen
ExAC
gnomAD
CA96656645
rs1015537193
1344 T>P No ClinGen
Ensembl
rs1452499000
CA356814643
1345 K>R No ClinGen
gnomAD
CA356814656
rs1170458573
1347 L>F No ClinGen
gnomAD
rs200479028
CA96656648
1349 K>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1235452369
CA356814672
1349 K>N No ClinGen
TOPMed
CA2909051
rs200479028
1349 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs748917696
CA2909053
1350 W>C No ClinGen
ExAC
gnomAD
CA2909052
rs780045645
1350 W>G No ClinGen
ExAC
TOPMed
gnomAD
CA356814683
rs1394524135
1351 R>K No ClinGen
gnomAD
CA356814691
rs1288716306
1352 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA96657162
rs976606813
1354 G>A No ClinGen
Ensembl
CA2909054
rs768315499
1356 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs548274430
CA2909055
1357 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2909057
rs771490282
1360 T>S No ClinGen
ExAC
gnomAD
rs773708029
CA2909059
1362 K>Q No ClinGen
ExAC
gnomAD
CA356814764
rs1290243271
1363 Y>C No ClinGen
TOPMed
gnomAD
rs367581812
CA2909061
1364 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1450979340
CA356814781
1366 Q>K No ClinGen
gnomAD
rs759845867
CA2909063
1367 S>* No ClinGen
ExAC
gnomAD
rs765449130
CA2909064
1368 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs752875766
CA2909065
1370 K>N No ClinGen
ExAC
gnomAD
COSM447899
CA2909066
rs763021315
1372 G>E Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA96657178
rs549860330
1373 R>G No ClinGen
Ensembl
CA356814824
rs1427858529
1373 R>K No ClinGen
gnomAD
CA356814833
rs1190735648
1374 R>K No ClinGen
gnomAD
CA2909067
rs764328031
1374 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1459609467
CA356814845
1376 M>T No ClinGen
gnomAD
CA2909068
rs750366549
1378 G>R No ClinGen
ExAC
gnomAD
CA96657186
rs369714734
1379 P>R No ClinGen
ESP
gnomAD
CA2909069
rs756160620
1380 S>F No ClinGen
ExAC
gnomAD
CA2909070
rs780172839
1382 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA2909072
COSM230034
rs754747002
1385 M>I NS [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1014782037
CA96657192
1388 A>P No ClinGen
TOPMed
rs4145944
VAR_024371
CA2909074
1389 S>T No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA96657196
rs112565536
1390 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA2909076
rs777311172
1391 C>* No ClinGen
ExAC
TOPMed
gnomAD
rs370150000
CA96657202
1391 C>Y No ClinGen
ESP
TOPMed
gnomAD
rs35375547
CA2909077
1392 A>D No ClinGen
ExAC
TOPMed
gnomAD
VAR_048395
CA96657209
rs35375547
1392 A>G No ClinGen
UniProt
ExAC
TOPMed
dbSNP
gnomAD
CA356814944
rs35375547
1392 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA2909078
rs568660794
1393 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
rs140236295
CA2909080
1394 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs140236295
CA2909079
1394 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1397 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1577718063
CA356814982
1398 L>S No ClinGen
Ensembl
CA96657221
rs780438747
1399 S>P No ClinGen
TOPMed
gnomAD
rs1420060014
CA356815000
1401 C>S No ClinGen
TOPMed
CA2909086
rs763134802
1402 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1417337344
CA356815014
1403 T>N Variant assessed as Somatic; 4.63e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs533724339
CA96657228
1404 A>T No ClinGen
1000Genomes
rs764240036
CA96657231
1408 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs764240036
CA2909087
1408 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1287153869
CA356815054
1409 Y>F No ClinGen
gnomAD
CA2909089
rs762008183
1412 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs558941985
CA2909090
1413 K>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA356815085
rs1405014886
1414 A>S No ClinGen
gnomAD
CA356815121
rs373941219
1419 G>* No ClinGen
ESP
TOPMed
gnomAD
CA96657232
COSM318820
rs373941219
1419 G>R lung [Cosmic] No ClinGen
cosmic curated
ESP
TOPMed
gnomAD
rs753727748
CA2909091
1419 G>V No ClinGen
ExAC
TOPMed
CA2909092
rs754801127
1420 P>S No ClinGen
ExAC
gnomAD
CA356815125
rs754801127
1420 P>T No ClinGen
ExAC
gnomAD
CA2909093
rs765003197
1423 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs924128502
CA96657236
1423 G>R No ClinGen
TOPMed
rs765003197
CA356815145
1423 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs145210912
CA2909094
1427 S>W No ClinGen
ESP
ExAC
TOPMed
gnomAD

No associated diseases with Q9P241

3 regional properties for Q9P241

Type Name Position InterPro Accession
domain Protein kinase domain 46 - 300 IPR000719
active_site Serine/threonine-protein kinase, active site 160 - 172 IPR008271
binding_site Protein kinase, ATP binding site 52 - 75 IPR017441

Functions

Description
EC Number 7.6.2.1 Linked to the hydrolysis of a nucleoside triphosphate
Subcellular Localization
  • Cell membrane ; Multi-pass membrane protein
  • Endoplasmic reticulum membrane ; Multi-pass membrane protein
  • Exit from the endoplasmic reticulum requires the presence of TMEM30A, but not that of TMEM30B
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 GO annotations of cellular component

Name Definition
endoplasmic reticulum The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum membrane The lipid bilayer surrounding the endoplasmic reticulum.
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integral component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
phospholipid-translocating ATPase complex A protein complex that functions as a phospholipid-translocating P-Type ATPase.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

5 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
ATPase-coupled intramembrane lipid transporter activity Catalysis of the movement of lipids from one membrane leaflet to the other, driven by ATP hydrolysis. This includes flippases and floppases.
glycosylceramide flippase activity Catalysis of the movement of glycosylceramide from the exoplasmic to the cytosolic leaftlet of a membrane, using energy from the hydrolysis of ATP. Glycosylceramides are ceramides containing a functional group derived from a sugar.
magnesium ion binding Binding to a magnesium (Mg) ion.

3 GO annotations of biological process

Name Definition
cation transport The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
ion transmembrane transport A process in which an ion is transported across a membrane.
phospholipid translocation The movement of a phospholipid molecule from one leaflet of a membrane bilayer to the opposite leaflet.

11 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
O43520 ATP8B1 Phospholipid-transporting ATPase IC Homo sapiens (Human) EV
P98198 ATP8B2 Phospholipid-transporting ATPase ID Homo sapiens (Human) PR
Q8TF62 ATP8B4 Probable phospholipid-transporting ATPase IM Homo sapiens (Human) PR
Q9Y2Q0 ATP8A1 Phospholipid-transporting ATPase IA Homo sapiens (Human) PR
O43861 ATP9B Probable phospholipid-transporting ATPase IIB Homo sapiens (Human) PR
Q148W0 Atp8b1 Phospholipid-transporting ATPase IC Mus musculus (Mouse) SS
P70704 Atp8a1 Phospholipid-transporting ATPase IA Mus musculus (Mouse) PR
P98199 Atp8b2 Phospholipid-transporting ATPase ID Mus musculus (Mouse) PR
D4AA47 Atp8b1 Phospholipid-transporting ATPase IC Rattus norvegicus (Rat) SS
Q9U280 tat-1 Phospholipid-transporting ATPase tat-1 Caenorhabditis elegans PR
Q5BL50 atp8b1 Phospholipid-transporting ATPase IC Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) SS
10 20 30 40 50 60
MTEALQWARY HWRRLIRGAT RDDDSGPYNY SSLLACGRKS SQTPKLSGRH RIVVPHIQPF
70 80 90 100 110 120
KDEYEKFSGA YVNNRIRTTK YTLLNFVPRN LFEQFHRAAN LYFLFLVVLN WVPLVEAFQK
130 140 150 160 170 180
EITMLPLVVV LTIIAIKDGL EDYRKYKIDK QINNLITKVY SRKEKKYIDR CWKDVTVGDF
190 200 210 220 230 240
IRLSCNEVIP ADMVLLFSTD PDGICHIETS GLDGESNLKQ RQVVRGYAEQ DSEVDPEKFS
250 260 270 280 290 300
SRIECESPNN DLSRFRGFLE HSNKERVGLS KENLLLRGCT IRNTEAVVGI VVYAGHETKA
310 320 330 340 350 360
MLNNSGPRYK RSKLERRANT DVLWCVMLLV IMCLTGAVGH GIWLSRYEKM HFFNVPEPDG
370 380 390 400 410 420
HIISPLLAGF YMFWTMIILL QVLIPISLYV SIEIVKLGQI YFIQSDVDFY NEKMDSIVQC
430 440 450 460 470 480
RALNIAEDLG QIQYLFSDKT GTLTENKMVF RRCSVAGFDY CHEENARRLE SYQEAVSEDE
490 500 510 520 530 540
DFIDTVSGSL SNMAKPRAPS CRTVHNGPLG NKPSNHLAGS SFTLGSGEGA SEVPHSRQAA
550 560 570 580 590 600
FSSPIETDVV PDTRLLDKFS QITPRLFMPL DETIQNPPME TLYIIDFFIA LAICNTVVVS
610 620 630 640 650 660
APNQPRQKIR HPSLGGLPIK SLEEIKSLFQ RWSVRRSSSP SLNSGKEPSS GVPNAFVSRL
670 680 690 700 710 720
PLFSRMKPAS PVEEEVSQVC ESPQCSSSSA CCTETEKQHG DAGLLNGKAE SLPGQPLACN
730 740 750 760 770 780
LCYEAESPDE AALVYAARAY QCTLRSRTPE QVMVDFAALG PLTFQLLHIL PFDSVRKRMS
790 800 810 820 830 840
VVVRHPLSNQ VVVYTKGADS VIMELLSVAS PDGASLEKQQ MIVREKTQKH LDDYAKQGLR
850 860 870 880 890 900
TLCIAKKVMS DTEYAEWLRN HFLAETSIDN REELLLESAM RLENKLTLLG ATGIEDRLQE
910 920 930 940 950 960
GVPESIEALH KAGIKIWMLT GDKQETAVNI AYACKLLEPD DKLFILNTQS KDACGMLMST
970 980 990 1000 1010 1020
ILKELQKKTQ ALPEQVSLSE DLLQPPVPRD SGLRAGLIIT GKTLEFALQE SLQKQFLELT
1030 1040 1050 1060 1070 1080
SWCQAVVCCR ATPLQKSEVV KLVRSHLQVM TLAIGDGAND VSMIQVADIG IGVSGQEGMQ
1090 1100 1110 1120 1130 1140
AVMASDFAVS QFKHLSKLLL VHGHWCYTRL SNMILYFFYK NVAYVNLLFW YQFFCGFSGT
1150 1160 1170 1180 1190 1200
SMTDYWVLIF FNLLFTSAPP VIYGVLEKDV SAETLMQLPE LYRSGQKSEA YLPHTFWITL
1210 1220 1230 1240 1250 1260
LDAFYQSLVC FFVPYFTYQG SDTDIFAFGN PLNTAALFIV LLHLVIESKS LTWIHLLVII
1270 1280 1290 1300 1310 1320
GSILSYFLFA IVFGAMCVTC NPPSNPYWIM QEHMLDPVFY LVCILTTSIA LLPRFVYRVL
1330 1340 1350 1360 1370 1380
QGSLFPSPIL RAKHFDRLTP EERTKALKKW RGAGKMNQVT SKYANQSAGK SGRRPMPGPS
1390 1400 1410 1420
AVFAMKSASS CAIEQGNLSL CETALDQGYS ETKAFEMAGP SKGKES