Descriptions

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

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

14 structures for P10586

Entry ID Method Resolution Chain Position Source
1LAR X-ray 200 A A/B 1333-1907 PDB
2DJU NMR - A 319-411 PDB
2DN7 NMR - A 821-914 PDB
2EDX NMR - A 596-716 PDB
2EDY NMR - A 915-1010 PDB
2YD5 X-ray 220 A A 29-231 PDB
2YD8 X-ray 205 A A 29-231 PDB
4N5U X-ray 146 A A 601-705 PDB
6KR4 X-ray 285 A A/B/C/D 1332-1907 PDB
6TPT X-ray 320 A A 512-706 PDB
6TPU X-ray 155 A A/B 513-706 PDB
6TPV X-ray 180 A A/B 319-512 PDB
6TPW X-ray 290 A A 319-706 PDB
AF-P10586-F1 Predicted AlphaFoldDB

1579 variants for P10586

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1131692054
RCV000144043
616 V>missing Breasts and/or nipples, aplasia or hypoplasia of, 2 [ClinVar] Yes ClinVar
dbSNP
RCV000986294
rs145235828
CA813459
1730 H>Q Breasts and/or nipples, aplasia or hypoplasia of, 2 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA339988609
rs1284169835
2 A>T No ClinGen
gnomAD
CA339988623
rs1445843642
3 P>L No ClinGen
gnomAD
rs1212651831
CA339988627
4 E>K No ClinGen
gnomAD
rs766928002
CA811677
6 A>D No ClinGen
ExAC
gnomAD
rs766928002
CA811676
6 A>V No ClinGen
ExAC
gnomAD
CA339988719
rs1379181132
9 R>W No ClinGen
TOPMed
CA811679
rs376974470
10 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA811678
rs376974470
10 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 14 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA21653742
rs373829166
CA811681
15 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373829166
CA811680
15 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs563605163
CA811683
16 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs780606374
CA811682
16 P>S No ClinGen
ExAC
gnomAD
rs1384122242
CA339988848
17 A>T No ClinGen
gnomAD
CA811685
rs117228743
19 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA339988940
rs1246885392
20 M>I No ClinGen
TOPMed
rs1451378674
CA339989021
25 A>T No ClinGen
gnomAD
CA339989048
rs1312482627
26 G>D No ClinGen
gnomAD
CA811687
rs142286926
27 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1278488146
CA339989076
27 A>V No ClinGen
gnomAD
rs1225917677
CA339989127
29 G>V No ClinGen
gnomAD
rs763748777
CA811696
31 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs750930855
CA811697
35 F>S No ClinGen
ExAC
gnomAD
CA811698
rs556396767
36 I>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA339991887
rs1453417778
36 I>T No ClinGen
gnomAD
CA21660432
rs937131934
38 V>F No ClinGen
TOPMed
gnomAD
TCGA novel 39 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA811699
rs780553041
41 D>N No ClinGen
ExAC
gnomAD
rs909321178
CA21660440
43 T>I No ClinGen
TOPMed
rs747392641
CA811700
44 G>W No ClinGen
ExAC
gnomAD
rs1049277336
CA21660455
47 G>R No ClinGen
gnomAD
rs781508066
CA811702
50 A>V No ClinGen
ExAC
gnomAD
CA339992189
rs1321313292
51 S>F No ClinGen
TOPMed
rs748125986
CA339992223
52 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA21660494
rs556629491
53 V>E No ClinGen
Ensembl
CA811704
rs576238237
53 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA811706
rs565068107
57 T>A No ClinGen
1000Genomes
ExAC
gnomAD
rs940364059
CA21660514
57 T>R No ClinGen
Ensembl
rs868728182
CA21660516
58 G>E No ClinGen
Ensembl
rs770909342
CA811707
60 P>H No ClinGen
ExAC
gnomAD
rs774071378
CA811708
61 K>Q No ClinGen
ExAC
gnomAD
rs374024117
CA811709
62 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1160984093
CA339992559
63 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1557695030
CA339992625
65 T>K No ClinGen
Ensembl
CA339992686
rs775187760
CA811711
67 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA811712
rs760287504
71 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA339992930
rs1189436278
76 Q>L No ClinGen
gnomAD
rs367865707
CA811714
77 R>H Variant assessed as Somatic; 0.0006025 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs34596002
CA21660595
79 E>K No ClinGen
Ensembl
rs369031094
CA811731
81 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA339993302
rs1346277417
84 D>G No ClinGen
TOPMed
gnomAD
rs1399064221
CA339993346
85 D>V No ClinGen
TOPMed
CA339993364
rs1287440506
86 G>E No ClinGen
TOPMed
gnomAD
COSM3728249
rs954717138
CA21660767
86 G>R haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA811734
rs761438626
91 L>V No ClinGen
ExAC
gnomAD
CA811735
rs202216979
92 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA811737
rs752081368
97 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs767916955
CA811738
97 R>Q No ClinGen
ExAC
gnomAD
rs752081368
CA811736
97 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA811740
rs756266392
98 V>A No ClinGen
ExAC
gnomAD
CA339993624
CA339993627
rs1265936350
98 V>L No ClinGen
TOPMed
gnomAD
rs371678029
CA811742
100 R>Q Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 103 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 104 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757312037
CA811743
105 Y>C No ClinGen
ExAC
gnomAD
rs571501672
CA811745
106 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA811744
rs778902441
106 E>K No ClinGen
ExAC
gnomAD
CA339993862
rs758327132
108 T>I No ClinGen
ExAC
CA811746
rs758327132
108 T>R No ClinGen
ExAC
CA21660835
rs774033930
110 T>A No ClinGen
Ensembl
TCGA novel 114 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA339994233
rs1443865876
121 K>E No ClinGen
TOPMed
CA811748
rs527385217
121 K>R No ClinGen
1000Genomes
ExAC
gnomAD
CA811750
COSM177481
rs776445536
126 E>K large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA811781
rs750476610
128 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA21676532
rs981152996
129 Q>E No ClinGen
Ensembl
CA339999233
rs1306598175
129 Q>H No ClinGen
gnomAD
CA811783
rs766528777
131 P>A No ClinGen
ExAC
gnomAD
CA811784
rs751509707
131 P>L No ClinGen
ExAC
gnomAD
CA21676549
rs1034102532
132 P>A No ClinGen
Ensembl
rs755030848
CA811785
132 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs777318046
COSM3419254
CA811789
138 D>N large_intestine Variant assessed as Somatic; 4.637e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA811791
rs770321096
139 M>I No ClinGen
ExAC
gnomAD
rs1425153166
CA339999449
139 M>R No ClinGen
gnomAD
CA811790
rs749022267
139 M>V No ClinGen
ExAC
gnomAD
CA21676591
rs962585204
142 Q>* No ClinGen
Ensembl
CA339999608
rs1432596269
146 V>A No ClinGen
gnomAD
CA339999650
rs1170631763
149 A>T No ClinGen
TOPMed
CA21676609
rs749276357
150 R>H Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1359561471
CA339999704
152 A>G No ClinGen
gnomAD
CA811795
rs569999879
152 A>T No ClinGen
1000Genomes
ExAC
CA339999715
rs1288313499
153 T>A No ClinGen
gnomAD
rs374531518
CA811797
153 T>I No ClinGen
ESP
ExAC
gnomAD
rs960194475
CA21676627
154 M>I No ClinGen
TOPMed
gnomAD
rs773282232
CA811798
155 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA811800
rs375157244
158 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA811801
rs368326365
159 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA811803
rs370860175
160 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755880536
CA811805
165 E>D No ClinGen
ExAC
gnomAD
TCGA novel 168 W>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777667224
CA811807
172 F>V No ClinGen
ExAC
gnomAD
CA811808
rs368692509
173 L>F No ClinGen
ESP
ExAC
gnomAD
rs756996085
CA811809
174 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA811810
rs778340007
176 D>A No ClinGen
ExAC
gnomAD
rs1281980017
CA340000137
177 P>A No ClinGen
gnomAD
CA340000140
rs1353396650
177 P>L No ClinGen
gnomAD
CA811812
rs150660901
179 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA340000170
rs1206019354
180 S>G No ClinGen
TOPMed
gnomAD
rs748737963
CA811814
180 S>I No ClinGen
ExAC
gnomAD
rs748737963
CA340000174
180 S>N No ClinGen
ExAC
gnomAD
CA21676683
rs555893108
181 N>D No ClinGen
gnomAD
CA21676685
rs1050427151
181 N>S No ClinGen
gnomAD
CA811816
rs773693327
182 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA340000200
rs1455417237
183 R>C No ClinGen
gnomAD
rs771288963
CA811818
183 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1275911329
CA340000227
185 K>R No ClinGen
gnomAD
TCGA novel 187 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774501830
CA811819
188 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1385310531
CA340003035
194 I>V No ClinGen
gnomAD
TCGA novel 195 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1383530919
CA340003250
198 E>* No ClinGen
Ensembl
CA21683799
rs139518625
202 Q>* No ClinGen
ESP
TOPMed
CA21683788
rs139518625
202 Q>E No ClinGen
ESP
TOPMed
CA811867
rs759104730
204 K>N No ClinGen
ExAC
gnomAD
CA811869
rs754335848
206 E>* No ClinGen
ExAC
gnomAD
rs757899600
CA811870
209 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA811872
rs750826620
210 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA811873
rs758657312
212 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA340003744
rs1161939784
214 G>D No ClinGen
gnomAD
rs747245021
CA811875
215 T>A No ClinGen
ExAC
gnomAD
CA340003809
COSM72349
rs906834223
216 R>H ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA21683873
rs906834223
216 R>L No ClinGen
TOPMed
gnomAD
TCGA novel 221 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA811876
rs768752897
221 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA21683894
rs1035295037
222 N>Y No ClinGen
TOPMed
rs1453668088
CA340004166
225 V>L No ClinGen
gnomAD
CA340004180
rs1377104184
226 R>Q No ClinGen
gnomAD
rs1330678973
CA339984147
228 R>C No ClinGen
gnomAD
CA339984154
rs1455359848
228 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA339984177
rs1250737549
229 R>H No ClinGen
TOPMed
TCGA novel 230 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA339984181
rs1299856963
230 V>M No ClinGen
gnomAD
CA339984207
rs1369116115
231 A>D No ClinGen
gnomAD
CA339984214
rs1468296025
232 P>S No ClinGen
TOPMed
TCGA novel 233 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201549619
CA21644021
233 R>H No ClinGen
gnomAD
rs775888535
CA811951
235 S>C No ClinGen
ExAC
gnomAD
CA21644028
rs370982565
237 P>S No ClinGen
ESP
TOPMed
gnomAD
CA21644034
rs969964085
240 S>I No ClinGen
gnomAD
CA339984448
rs969964085
240 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA339984496
rs1198021971
241 Q>E No ClinGen
TOPMed
CA339984552
rs1450640377
242 E>K No ClinGen
gnomAD
TCGA novel 245 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764333630
CA811953
247 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1459942101
CA339984727
248 S>N No ClinGen
gnomAD
rs1167481147
CA339984765
249 V>M No ClinGen
gnomAD
rs753909516
CA21644051
251 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA811955
rs568517762
254 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA811956
rs765398408
255 A>S No ClinGen
ExAC
CA339985013
rs951731461
258 A>G No ClinGen
Ensembl
CA21644092
rs951731461
258 A>V No ClinGen
Ensembl
CA339985028
rs1322773479
259 P>A No ClinGen
gnomAD
rs1570367348
CA339985063
260 M>L No ClinGen
Ensembl
CA811959
rs368337407
263 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA811960
rs751403337
264 K>Q No ClinGen
ExAC
gnomAD
CA811961
rs754635285
266 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA21644130
rs983179950
267 M>L No ClinGen
gnomAD
rs1302980890
CA339985381
268 G>R No ClinGen
TOPMed
rs142181863
CA811962
270 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA339985562
rs1392922009
272 L>F No ClinGen
TOPMed
rs747883338
CA811963
273 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs747883338
CA21644174
273 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA811964
rs769151984
274 K>E No ClinGen
ExAC
gnomAD
rs1454126684
CA339985731
277 E>K No ClinGen
TOPMed
rs746345482
CA811966
278 M>T No ClinGen
ExAC
gnomAD
CA339985855
rs1187315874
279 P>S No ClinGen
gnomAD
rs772578571
CA811967
280 V>I No ClinGen
ExAC
gnomAD
CA21644180
rs764349921
282 R>H No ClinGen
gnomAD
rs775794645
CA21644181
283 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs140415781
CA811969
284 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769061275
CA811970
287 L>V No ClinGen
ExAC
gnomAD
CA339986236
rs1250419972
288 S>N No ClinGen
TOPMed
CA811971
rs776690110
289 N>H No ClinGen
ExAC
gnomAD
TCGA novel 290 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 291 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765219893
CA811973
291 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA811974
rs557357295
292 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA811975
rs762919783
292 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs557357295
CA339986344
292 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA811976
rs766448564
294 A>T No ClinGen
ExAC
gnomAD
rs751350194
CA811977
295 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA339986558
rs1269794866
299 V>M No ClinGen
gnomAD
TCGA novel 300 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781081287
CA811979
303 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs866203596
CA21644227
305 G>D No ClinGen
Ensembl
rs751608837
CA21644232
308 E>K No ClinGen
Ensembl
rs1200604615
CA339987006
310 T>P No ClinGen
gnomAD
CA339987121
rs1256050298
315 V>M No ClinGen
gnomAD
rs1474519709
CA339987169
316 K>N No ClinGen
TOPMed
gnomAD
CA339987185
rs1184703085
317 A>P No ClinGen
TOPMed
gnomAD
CA21645348
rs182835593
318 L>P No ClinGen
1000Genomes
TOPMed
CA812002
rs753539551
319 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs756729737
CA812003
321 P>S No ClinGen
ExAC
gnomAD
CA339989311
rs756729737
321 P>T No ClinGen
ExAC
gnomAD
rs778462451
CA812004
322 P>L No ClinGen
ExAC
gnomAD
CA812006
rs755526598
325 L>V No ClinGen
ExAC
gnomAD
CA812007
rs781347680
326 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1342143736
CA339989522
328 T>S No ClinGen
gnomAD
CA339989529
rs1288701467
329 E>Q No ClinGen
TOPMed
rs748578998
CA812008
330 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA812009
rs769856471
330 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs1570395587
CA339989610
331 T>P No ClinGen
Ensembl
CA339989700
rs1190811308
333 T>I No ClinGen
gnomAD
rs773543094
CA812010
335 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 336 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA812011
rs749558306
336 T>I No ClinGen
ExAC
gnomAD
rs1570395690
CA339989760
336 T>P No ClinGen
Ensembl
CA812012
rs771125743
337 L>F No ClinGen
ExAC
gnomAD
rs771125743
CA812013
337 L>I No ClinGen
ExAC
gnomAD
rs1570395886
CA339989810
338 T>I No ClinGen
Ensembl
rs1351426605
CA339989860
340 D>E No ClinGen
gnomAD
rs1168007555
CA339989843
340 D>Y No ClinGen
gnomAD
rs767493242
CA812015
342 G>V No ClinGen
ExAC
gnomAD
rs1570396022
CA339989925
343 N>T No ClinGen
Ensembl
rs895500892
CA21645441
344 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs775100398
CA812016
344 S>P No ClinGen
ExAC
gnomAD
CA339990040
rs1557787647
346 P>A No ClinGen
Ensembl
rs1410741955
CA339990118
348 T>N No ClinGen
TOPMed
rs1570396352
CA339990107
348 T>P No ClinGen
Ensembl
rs1292708024
CA339990154
349 Y>H No ClinGen
gnomAD
CA812019
rs753484573
349 Y>S No ClinGen
ExAC
gnomAD
CA339990231
rs1570396539
351 G>A No ClinGen
Ensembl
rs563115918
CA812021
353 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 354 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1570396628
CA339990302
354 Y>S No ClinGen
Ensembl
rs143362739
CA812022
355 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA812024
rs540408475
355 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs143362739
CA812023
355 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA812026
RCV000910250
rs79621077
356 A>S No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA339990336
rs79621077
356 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs368187251
CA812027
356 A>V No ClinGen
ESP
ExAC
gnomAD
rs749507478
CA812028
357 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA812029
rs142785985
COSM1582248
357 A>V stomach [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA812032
rs772095405
359 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA339990392
rs772095405
359 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs1286468849
CA339990423
360 E>D No ClinGen
gnomAD
rs1557788056
CA339990403
360 E>K No ClinGen
Ensembl
rs781534278
CA21645476
361 G>D No ClinGen
Ensembl
CA812034
rs760597858
361 G>S No ClinGen
ExAC
gnomAD
rs761391796
CA812037
364 Q>L No ClinGen
ExAC
gnomAD
rs1331433592
CA339990550
365 E>G No ClinGen
gnomAD
rs1570397540
CA339990646
369 V>G No ClinGen
Ensembl
CA339990657
rs1379971160
370 A>S No ClinGen
gnomAD
CA339990670
rs1570397632
371 T>P No ClinGen
Ensembl
rs765844810
CA812041
373 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1212415516
CA339990737
375 S>G No ClinGen
gnomAD
CA339990769
rs1239117562
376 I>V No ClinGen
gnomAD
COSM681273
CA339990820
rs1186911250
378 G>S lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1229058695
CA339990837
379 L>R No ClinGen
TOPMed
CA339990864
rs1415425444
382 F>S No ClinGen
gnomAD
CA812045
rs756633630
383 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA339990928
rs1557788505
387 F>L No ClinGen
Ensembl
rs376580480
CA812048
388 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs779257179
CA812050
388 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs779257179
CA812049
388 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs571781315
CA812052
391 A>S No ClinGen
1000Genomes
ExAC
gnomAD
rs746910917
COSM1193891
CA812053
391 A>V lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1279183680
CA339991018
393 N>K No ClinGen
gnomAD
rs776374379
CA339991033
394 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs776374379
CA339991030
394 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA812055
rs776374379
394 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA812058
rs772886593
397 R>Q No ClinGen
ExAC
gnomAD
rs61733187
CA812059
399 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1210046572
CA339991111
399 P>T No ClinGen
gnomAD
CA812062
rs761196800
400 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA812063
rs764728270
401 S>G No ClinGen
ExAC
gnomAD
rs754204068
CA339991167
401 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA812065
rs757666619
COSM681272
402 E>K lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1433610918
CA339991206
403 A>S No ClinGen
gnomAD
CA21645643
rs1034684585
404 V>A No ClinGen
Ensembl
rs760127576
CA21645654
405 R>Q No ClinGen
Ensembl
rs547221830
CA812067
405 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs758562785
CA812068
406 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs748429132
COSM1222633
CA812069
407 R>C large_intestine central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs748429132
CA21645692
407 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs373662568
CA812071
407 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs748429132
CA812070
407 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs748121483
CA812073
408 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1347204574
CA339991340
410 E>G No ClinGen
gnomAD
CA812075
rs772934252
411 Q>H No ClinGen
ExAC
gnomAD
rs1186829781
CA339991371
412 A>P No ClinGen
TOPMed
gnomAD
CA339991373
rs1186829781
412 A>S No ClinGen
TOPMed
gnomAD
TCGA novel 412 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA812076
VAR_054766
rs1065775
412 A>V No ClinGen
UniProt
ExAC
TOPMed
dbSNP
gnomAD
rs1205526671
CA339991390
413 P>L No ClinGen
gnomAD
rs369985213
CA21645716
416 P>S No ClinGen
ESP
TOPMed
gnomAD
rs17849128
CA21645718
417 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs759136731
CA812079
418 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
rs372477577
CA812080
418 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA339991466
rs1453259016
419 R>C Variant assessed as Somatic; 8.11e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs536262487
CA812082
419 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs375757987
CA812084
420 V>M No ClinGen
ESP
ExAC
gnomAD
CA339991491
rs1394757550
421 Q>K No ClinGen
gnomAD
rs1471991235
CA339991508
423 R>C No ClinGen
TOPMed
CA339991517
rs1360467408
423 R>H No ClinGen
gnomAD
TCGA novel 424 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA812087
rs751831806
427 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs751831806
CA339991563
427 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA339991567
rs1299928013
427 A>V No ClinGen
gnomAD
rs1215117006
CA339991607
430 M>V No ClinGen
TOPMed
rs1250735663
CA339991637
432 V>M No ClinGen
gnomAD
rs1211482971
CA339991652
433 Q>* No ClinGen
gnomAD
CA21645754
rs942716991
433 Q>H No ClinGen
gnomAD
CA339991657
rs1292246821
433 Q>R No ClinGen
TOPMed
rs755017217
CA812088
436 P>L No ClinGen
ExAC
gnomAD
CA339991801
rs1570401727
438 E>D No ClinGen
Ensembl
rs1054446954
CA21645759
438 E>G No ClinGen
TOPMed
CA21645758
rs931536811
438 E>K No ClinGen
TOPMed
gnomAD
rs931536811
CA339991753
438 E>Q No ClinGen
TOPMed
gnomAD
CA339991835
rs1450583445
439 E>D No ClinGen
gnomAD
rs781314317
CA339991881
440 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs781314317
CA812089
440 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA339991839
rs1193066225
440 P>T No ClinGen
gnomAD
rs1362908192
CA339991911
441 N>S No ClinGen
TOPMed
TCGA novel 442 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1393940547
CA339991948
442 G>V No ClinGen
gnomAD
CA812091
rs756055613
444 V>L No ClinGen
ExAC
gnomAD
CA339991974
rs756055613
444 V>M No ClinGen
ExAC
gnomAD
rs1004348611
CA21645762
445 R>Q No ClinGen
TOPMed
gnomAD
rs887284804
CA21645761
445 R>W No ClinGen
TOPMed
gnomAD
CA339992050
rs1246641379
446 G>R No ClinGen
gnomAD
rs749068389
CA812093
448 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs770566976
CA812094
448 R>H No ClinGen
ExAC
gnomAD
CA812095
rs370471082
449 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1204098813
CA339992215
450 Y>* No ClinGen
TOPMed
gnomAD
CA812096
rs3748796
VAR_020299
450 Y>C No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1003445552
CA21645784
450 Y>N No ClinGen
Ensembl
TCGA novel 451 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA21645788
rs958996158
452 T>S No ClinGen
Ensembl
CA339992305
rs1426084669
453 P>A No ClinGen
gnomAD
CA339992327
rs1189049815
453 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA339992411
rs1557790674
456 R>C No ClinGen
Ensembl
CA812098
rs775153874
456 R>H No ClinGen
ExAC
gnomAD
rs1161603881
CA339992443
457 R>C No ClinGen
gnomAD
CA812099
rs371589885
457 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs371589885
CA339992451
457 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA339992469
rs1453124855
458 P>S No ClinGen
gnomAD
CA812100
rs765697855
459 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA339992510
rs1287200699
459 P>S No ClinGen
TOPMed
gnomAD
CA812102
rs763208022
460 N>S No ClinGen
ExAC
gnomAD
rs1231299958
CA339992571
461 A>T No ClinGen
TOPMed
gnomAD
rs918748407
CA21645828
463 H>Y No ClinGen
gnomAD
rs1289821986
CA339992700
464 K>E No ClinGen
gnomAD
rs934199065
CA21645830
465 H>Y No ClinGen
TOPMed
gnomAD
CA812104
rs751772672
466 N>K No ClinGen
ExAC
gnomAD
rs370654753
CA812106
468 D>N No ClinGen
ESP
ExAC
gnomAD
CA812107
rs752774736
469 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA21645839
rs1031553811
469 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA21645843
rs956070708
471 L>F No ClinGen
TOPMed
gnomAD
CA21645846
rs992617145
471 L>P No ClinGen
TOPMed
rs1156962444
CA339993002
472 L>F No ClinGen
gnomAD
CA339993030
rs1379466189
473 T>M No ClinGen
gnomAD
CA812113
rs150324325
475 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs150324325
CA812112
475 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1309628467
CA339993113
476 G>D No ClinGen
gnomAD
rs1412636837
CA339993084
476 G>S No ClinGen
TOPMed
gnomAD
rs1490262416
CA339993205
479 L>P No ClinGen
TOPMed
rs573761255
CA812115
485 S>N No ClinGen
1000Genomes
ExAC
gnomAD
rs1207652998
CA339993381
486 L>M No ClinGen
gnomAD
rs768264448
CA812117
487 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA812118
rs773564240
487 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA812120
rs771184014
488 V>M No ClinGen
ExAC
gnomAD
CA21645937
rs930295481
489 L>H No ClinGen
TOPMed
TCGA novel 489 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA21645946
rs946122334
490 A>S No ClinGen
gnomAD
CA339993494
rs946122334
490 A>T No ClinGen
gnomAD
CA339993503
rs1432823468
490 A>V No ClinGen
gnomAD
CA339993538
rs1354879374
CA339993539
491 F>L No ClinGen
TOPMed
gnomAD
CA339993552
rs1296085702
492 T>I No ClinGen
gnomAD
CA812121
rs774708497
492 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs375847889
CA812123
493 A>T No ClinGen
1000Genomes
ESP
ExAC
gnomAD
CA21645957
rs887326029
493 A>V No ClinGen
TOPMed
gnomAD
CA812125
rs760647060
COSM3689708
494 V>M large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA812128
rs757233751
496 D>G No ClinGen
ExAC
gnomAD
CA812127
rs368501227
496 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA812130
rs750275015
498 P>L No ClinGen
ExAC
gnomAD
CA339993777
rs895065406
501 P>A No ClinGen
TOPMed
gnomAD
rs895065406
CA21646005
501 P>S No ClinGen
TOPMed
gnomAD
CA21646014
rs996952375
502 T>A No ClinGen
TOPMed
gnomAD
CA339993800
rs1188172215
502 T>I No ClinGen
gnomAD
rs1427684895
CA339993864
504 Q>R No ClinGen
gnomAD
CA339993873
rs1168074813
505 V>F No ClinGen
gnomAD
CA812131
rs758079244
507 T>A No ClinGen
ExAC
gnomAD
CA339993958
rs1461665604
507 T>M No ClinGen
TOPMed
gnomAD
CA339995519
rs1570409758
513 A>S No ClinGen
Ensembl
CA812155
rs747721714
513 A>V No ClinGen
ExAC
gnomAD
CA339995634
rs201705061
516 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA339995638
rs201705061
516 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA812158
rs201705061
516 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373978818
CA812159
516 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA21646278
rs369772044
518 F>L No ClinGen
ESP
TOPMed
gnomAD
rs747134912
CA812161
519 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA812163
rs778628256
521 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA812164
rs761933943
522 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1348588531
CA339995896
524 S>W No ClinGen
gnomAD
CA339995924
rs1282365635
525 D>G No ClinGen
gnomAD
rs1483547386
CA339995989
526 T>S No ClinGen
TOPMed
CA812170
rs754542750
529 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA812171
rs368816972
530 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 531 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200072533
CA812172
531 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA339996150
rs1225380934
532 W>* No ClinGen
TOPMed
CA812173
rs755587343
534 L>V No ClinGen
ExAC
gnomAD
rs1343911221
CA339996210
535 P>L No ClinGen
TOPMed
rs746359623
CA812175
535 P>S No ClinGen
ExAC
gnomAD
CA812176
rs139284587
536 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1339099962
CA339996229
536 P>R No ClinGen
Ensembl
CA812177
rs780240989
537 Q>E No ClinGen
ExAC
gnomAD
rs914839750
CA339996243
537 Q>P No ClinGen
gnomAD
rs914839750
CA21646313
537 Q>R No ClinGen
gnomAD
rs747424443
CA812178
538 E>G No ClinGen
ExAC
gnomAD
CA812181
rs748453373
539 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs776883780
CA812180
539 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA21646328
rs370784590
540 I>M No ClinGen
ESP
TOPMed
CA812182
rs377374918
541 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773435037
CA812183
542 M>L No ClinGen
ExAC
gnomAD
CA812184
rs762913708
542 M>T No ClinGen
ExAC
gnomAD
rs932846356
CA21646339
544 E>D No ClinGen
TOPMed
rs200879907
CA812185
548 W>C No ClinGen
1000Genomes
ExAC
gnomAD
CA339996492
rs200147342
549 A>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA812186
rs200147342
549 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA339996506
rs1435718099
550 A>S No ClinGen
TOPMed
gnomAD
CA339996499
rs1435718099
550 A>T No ClinGen
TOPMed
gnomAD
rs926058235
CA21646354
551 E>K No ClinGen
TOPMed
rs148716858
CA339996591
CA812189
552 D>E No ClinGen
1000Genomes
ESP
ExAC
gnomAD
rs376335770
CA812190
553 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA812191
rs763528233
554 D>E No ClinGen
ExAC
gnomAD
rs1192271277
CA339996638
555 Q>R No ClinGen
gnomAD
CA339996923
rs1350824421
557 H>Y No ClinGen
gnomAD
rs1205028109
CA339996959
558 K>R No ClinGen
gnomAD
CA21646717
CA339996977
rs75561307
559 V>L No ClinGen
Ensembl
rs756352829
CA812220
560 T>N No ClinGen
ExAC
gnomAD
rs3748800
VAR_020300
CA812222
562 D>N No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA812223
rs771037116
563 P>A No ClinGen
ExAC
gnomAD
CA812224
rs778917013
563 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA339997139
rs771037116
563 P>S No ClinGen
ExAC
gnomAD
rs372713942
CA812225
564 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA812226
rs541760221
565 S>F No ClinGen
1000Genomes
ExAC
gnomAD
rs1313265257
CA339997358
568 T>I No ClinGen
TOPMed
gnomAD
rs1393907999
CA339997382
569 L>Q No ClinGen
gnomAD
rs201453872
CA812229
569 L>V No ClinGen
1000Genomes
ExAC
gnomAD
CA339997425
rs373396517
570 E>A No ClinGen
ESP
TOPMed
gnomAD
CA21646808
rs373396517
570 E>G No ClinGen
ESP
TOPMed
gnomAD
rs776265538
CA812230
573 K>R No ClinGen
ExAC
gnomAD
CA812231
rs530318417
574 P>A No ClinGen
1000Genomes
ExAC
gnomAD
rs1447021392
CA339997531
575 D>H No ClinGen
TOPMed
CA812233
rs772605619
576 T>I No ClinGen
ExAC
gnomAD
rs764750522
CA812232
576 T>S No ClinGen
ExAC
gnomAD
CA21646823
rs1057374443
577 L>F No ClinGen
Ensembl
rs758181842
CA812234
577 L>H No ClinGen
ExAC
TOPMed
gnomAD
rs376375127
CA812235
579 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA339997653
rs376375127
579 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA812236
rs753304290
579 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA339997736
rs1418563085
581 Q>H No ClinGen
gnomAD
CA812238
rs764618194
581 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs11210882
CA21646837
583 A>G No ClinGen
Ensembl
CA812239
rs147188221
585 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA812240
rs144513069
585 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1000899867
CA21646866
588 M>I No ClinGen
TOPMed
gnomAD
rs1327156374
CA339997979
588 M>V No ClinGen
TOPMed
CA339998062
rs1570421590
590 V>G No ClinGen
Ensembl
CA21646879
rs79766207
CA812245
590 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs79766207
CA21646878
590 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA812247
rs150963518
592 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA21646896
rs1026828350
593 F>L No ClinGen
Ensembl
rs1373771874
CA339998114
593 F>S No ClinGen
gnomAD
rs951219998
CA339998123
594 T>P No ClinGen
Ensembl
rs951219998
CA21646904
594 T>S No ClinGen
Ensembl
TCGA novel 596 T>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA339998174
rs1442498608
597 I>T No ClinGen
TOPMed
gnomAD
CA812251
rs762345034
597 I>V No ClinGen
ExAC
gnomAD
rs1020428969
CA21646912
599 A>T No ClinGen
TOPMed
rs766024179
CA812252
600 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA812253
rs751589837
600 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs751589837
CA21646931
600 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA339998236
rs1254987769
602 A>T No ClinGen
gnomAD
CA812254
rs761321345
602 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs754156472
CA812256
603 Q>E No ClinGen
ExAC
gnomAD
CA812257
rs757452368
603 Q>R No ClinGen
ExAC
gnomAD
TCGA novel 605 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1232705923
CA340000552
606 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 607 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA21650496
rs868510741
607 S>P No ClinGen
TOPMed
gnomAD
CA340000588
rs1217817504
608 A>P No ClinGen
gnomAD
CA340000586
rs1217817504
608 A>T No ClinGen
gnomAD
rs1242703150
CA340000636
609 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA340000733
rs1475349786
611 Q>H No ClinGen
gnomAD
rs1259101040
CA340000718
611 Q>P No ClinGen
TOPMed
gnomAD
rs1180724695
CA340000763
612 K>R No ClinGen
gnomAD
CA340000795
rs1570482151
613 V>G No ClinGen
Ensembl
CA21650539
rs369236165
CA21650530
614 M>I No ClinGen
ESP
TOPMed
gnomAD
rs1363468504
CA340000808
614 M>T No ClinGen
TOPMed
rs1387881232
CA340000841
615 C>F No ClinGen
TOPMed
rs1160451856
CA340000869
616 V>A No ClinGen
gnomAD
CA812295
rs745350125
619 G>S No ClinGen
ExAC
gnomAD
CA340001010
rs1265743877
622 T>M No ClinGen
TOPMed
gnomAD
rs1447541618
CA340001026
623 V>A No ClinGen
gnomAD
rs1356278983
CA340001018
623 V>I No ClinGen
gnomAD
rs771749077
CA812296
624 R>Q No ClinGen
ExAC
gnomAD
CA340001055
rs1570482815
625 V>G No ClinGen
Ensembl
rs1224465661
CA340001042
625 V>I No ClinGen
gnomAD
rs1284800093
CA340001064
626 S>N No ClinGen
gnomAD
CA812299
rs769997975
629 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA340001131
rs769997975
629 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA812301
rs763125381
630 P>L No ClinGen
ExAC
gnomAD
TCGA novel 630 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340002054
rs1235438684
632 A>T No ClinGen
gnomAD
CA340002103
rs1380180843
633 D>A No ClinGen
gnomAD
CA812305
rs767699823
633 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs17849101
CA812307
RCV000907090
635 R>C No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA812308
rs777362958
635 R>H No ClinGen
ExAC
gnomAD
CA812309
rs777362958
635 R>P No ClinGen
ExAC
gnomAD
TCGA novel 637 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340002250
rs1332425527
637 G>S No ClinGen
gnomAD
CA812311
rs369453577
638 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA812312
rs745583010
643 S>T No ClinGen
ExAC
gnomAD
CA812315
rs748539042
COSM1290203
644 V>M haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA340002581
rs1199674135
646 Y>* No ClinGen
TOPMed
gnomAD
rs770367017
CA812316
647 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1204546117
CA340002639
648 A>S No ClinGen
gnomAD
CA812318
rs749626324
648 A>V No ClinGen
ExAC
gnomAD
CA340002681
rs1570484204
649 V>G No ClinGen
Ensembl
TCGA novel 649 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1404810618
CA340002658
649 V>M No ClinGen
TOPMed
CA812321
rs759809563
651 G>S No ClinGen
ExAC
gnomAD
CA812323
rs775642004
652 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1410767912
CA340002800
653 D>G No ClinGen
gnomAD
CA21652207
rs572442326
654 R>C No ClinGen
1000Genomes
ExAC
gnomAD
CA812325
rs764113767
654 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs572442326
CA812324
654 R>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1331614439
CA340002848
655 G>E No ClinGen
gnomAD
rs757114527
CA812327
655 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1331614439
CA340002851
655 G>V No ClinGen
gnomAD
rs985815285
CA340002857
656 R>G No ClinGen
TOPMed
gnomAD
CA340002873
rs1341268386
656 R>Q No ClinGen
gnomAD
rs985815285
CA21652260
656 R>W No ClinGen
TOPMed
gnomAD
rs758076346
CA340002964
658 V>A No ClinGen
ExAC
gnomAD
rs758076346
CA812330
658 V>E No ClinGen
ExAC
gnomAD
CA340002943
rs1218826343
658 V>M No ClinGen
TOPMed
gnomAD
rs1215039768
CA340002972
659 V>M No ClinGen
gnomAD
rs1254105738
CA340003023
661 G>S No ClinGen
gnomAD
CA340003043
rs1451571570
662 I>V No ClinGen
gnomAD
rs779393774
CA21652263
664 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA340003179
rs1253367699
664 R>H No ClinGen
TOPMed
rs779393774
CA812331
664 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA21652265
rs951017386
665 E>Q No ClinGen
Ensembl
CA21652290
rs865931555
668 S>R No ClinGen
Ensembl
CA21652279
rs1054668971
668 S>T No ClinGen
TOPMed
CA812333
rs17849102
670 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1463018567
CA340003507
672 V>L No ClinGen
gnomAD
rs555258971
CA812335
675 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs1386119775
CA340003763
678 T>M No ClinGen
gnomAD
CA340003776
rs1327972182
679 E>K No ClinGen
gnomAD
rs1327972182
CA340003787
679 E>Q No ClinGen
gnomAD
CA812336
rs771269220
681 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA21652301
rs912268666
681 R>W No ClinGen
gnomAD
rs746021731
CA812338
682 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1261619328
COSM1342893
COSM40517
CA340003977
683 W>* large_intestine central_nervous_system [Cosmic] No ClinGen
cosmic curated
TOPMed
CA340004013
rs1223464697
684 V>G No ClinGen
TOPMed
CA812340
rs775382791
685 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs144665293
CA812339
685 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA812341
rs760786106
687 H>R No ClinGen
ExAC
gnomAD
rs201745531
CA340004175
689 D>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201745531
CA812342
689 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 690 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA812344
rs761857102
690 V>M No ClinGen
ExAC
gnomAD
rs1456513017
CA340004229
691 G>A No ClinGen
gnomAD
TCGA novel 691 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1387060597
CA340004236
692 P>A No ClinGen
gnomAD
rs1297394345
CA340004248
693 G>S No ClinGen
gnomAD
TCGA novel 694 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1416223281
CA340004285
695 E>K No ClinGen
TOPMed
gnomAD
rs1416223281
CA340004287
695 E>Q No ClinGen
TOPMed
gnomAD
rs894516328
CA21652374
697 S>N No ClinGen
TOPMed
CA21652382
rs1006220911
698 P>L No ClinGen
TOPMed
gnomAD
CA340004407
rs1339361196
698 P>S No ClinGen
gnomAD
rs1267826004
CA340004422
699 V>M No ClinGen
gnomAD
CA340004481
rs1216281893
701 V>L No ClinGen
gnomAD
rs1216281893
CA340004473
701 V>M No ClinGen
gnomAD
rs1284292923
CA340004507
702 R>C No ClinGen
gnomAD
CA340004511
rs1486879479
702 R>H No ClinGen
gnomAD
CA340004582
rs1422069418
704 D>E No ClinGen
TOPMed
gnomAD
CA812348
rs766035780
704 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA21652400
rs766035780
704 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 705 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340004682
rs1365430574
707 V>M No ClinGen
gnomAD
CA812368
rs759127729
708 P>L No ClinGen
ExAC
gnomAD
rs757714695
CA21652948
710 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA812371
rs757714695
710 G>W No ClinGen
ExAC
TOPMed
gnomAD
CA340004936
rs1308563374
713 R>Q No ClinGen
TOPMed
gnomAD
CA340005021
rs1266369144
717 V>G No ClinGen
gnomAD
CA812375
rs780294143
717 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1172354507
CA340005053
719 P>T No ClinGen
gnomAD
CA340005090
rs1570496457
721 N>D No ClinGen
Ensembl
TCGA novel 724 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1464586379
CA340005157
726 H>R No ClinGen
gnomAD
rs1167949818
CA340005163
727 V>I No ClinGen
gnomAD
CA340005177
rs1361334730
728 Y>H No ClinGen
gnomAD
rs1352078594
CA340005182
728 Y>S No ClinGen
gnomAD
rs769029754
CA812377
731 L>V No ClinGen
ExAC
gnomAD
CA812379
rs564141034
733 V>I No ClinGen
1000Genomes
ExAC
gnomAD
rs1384334912
CA340005288
735 S>N No ClinGen
gnomAD
CA340005370
rs1404378647
740 Q>R No ClinGen
TOPMed
TCGA novel 742 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340005411
rs1202842302
743 G>R No ClinGen
gnomAD
rs762860244
CA340005456
745 Q>H No ClinGen
ExAC
gnomAD
CA340005452
rs1216822839
745 Q>L No ClinGen
gnomAD
CA340005470
rs1570497377
746 V>G No ClinGen
Ensembl
rs770705836
CA812383
746 V>I No ClinGen
ExAC
gnomAD
rs774023984
CA812384
747 T>I No ClinGen
ExAC
gnomAD
CA812387
rs201048136
CA812388
749 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs201048136
CA812386
749 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs752038331
CA812389
750 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs149070360
CA812390
752 E>K No ClinGen
ESP
ExAC
gnomAD
rs201114915
CA812392
755 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs751890381
CA812393
756 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA812394
rs755439618
757 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA340005618
rs1252295013
757 R>H No ClinGen
TOPMed
CA340005643
rs1193658685
759 L>F No ClinGen
TOPMed
CA812396
rs781530130
760 P>A No ClinGen
ExAC
gnomAD
CA812397
rs370187541
760 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA812395
rs781530130
760 P>S No ClinGen
ExAC
gnomAD
rs749186153
CA812399
761 I>M No ClinGen
ExAC
gnomAD
CA812398
rs373814583
761 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA812400
rs770807749
762 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA812401
rs770807749
762 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA340005748
rs1326333643
764 D>G No ClinGen
TOPMed
rs377483278
CA812403
765 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775119587
CA812405
766 M>L No ClinGen
ExAC
gnomAD
rs775119587
CA812404
766 M>V No ClinGen
ExAC
gnomAD
CA340005812
rs1319886203
767 L>V No ClinGen
gnomAD
CA812406
rs763592362
768 A>G No ClinGen
ExAC
gnomAD
rs763465884
CA812408
769 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA340005894
rs752144648
770 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs766771427
CA812409
770 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA340005887
rs766771427
770 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA812410
rs752144648
770 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA812431
rs760137603
773 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA812430
rs774981977
773 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA340008554
rs1331891918
775 E>Q No ClinGen
gnomAD
TCGA novel 776 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1687590
CA812432
rs767930658
777 S>F skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA340008593
rs1312803474
778 E>K No ClinGen
TOPMed
gnomAD
CA340008594
rs1312803474
778 E>Q No ClinGen
TOPMed
gnomAD
CA340008619
rs1255710727
779 D>V No ClinGen
TOPMed
CA340008630
rs1276421514
780 Y>H No ClinGen
gnomAD
rs750523020
CA812457
781 E>K No ClinGen
ExAC
gnomAD
rs370538618
CA812458
782 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA812459
rs779932793
782 T>I No ClinGen
ExAC
gnomAD
CA812460
rs751561553
783 T>I No ClinGen
ExAC
gnomAD
CA21656290
rs201466491
784 I>V No ClinGen
1000Genomes
TOPMed
rs754712346
CA812461
785 S>G No ClinGen
ExAC
gnomAD
rs777222498
CA812462
785 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs747692299
CA812464
786 G>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 786 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA812463
rs747692299
786 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1400192914
CA340008842
788 T>A No ClinGen
gnomAD
CA812465
rs777372045
788 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1400192914
CA340008844
788 T>P No ClinGen
gnomAD
CA21656334
rs1043165223
789 P>A No ClinGen
TOPMed
gnomAD
rs1187179916
CA340008856
789 P>Q No ClinGen
TOPMed
gnomAD
rs1043165223
CA340008854
789 P>S No ClinGen
TOPMed
gnomAD
CA812467
rs746393821
790 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA340008909
rs1570552385
793 Y>S No ClinGen
Ensembl
CA340008928
COSM1667506
rs1396097094
794 S>F Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs572629636
CA812470
795 V>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM1581560
rs572629636
CA812471
795 V>I Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1557827258
CA340008983
801 T>A No ClinGen
Ensembl
rs200312726
CA812472
802 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 805 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1216144298
CA340009023
807 A>S No ClinGen
gnomAD
rs1425563157
CA340009029
808 R>C No ClinGen
gnomAD
rs773461058
CA812474
808 R>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 809 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763012613
CA812475
COSM4143990
810 K>R thyroid [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs766501071
CA812476
811 P>H No ClinGen
ExAC
gnomAD
CA340009072
rs766501071
811 P>L No ClinGen
ExAC
gnomAD
CA812478
rs754943489
813 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA812477
rs751390769
813 I>T No ClinGen
ExAC
gnomAD
rs1455058213
CA340009104
814 V>I No ClinGen
TOPMed
CA340009158
rs1420141737
818 G>D No ClinGen
gnomAD
TCGA novel 820 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA812503
rs756975863
823 R>G No ClinGen
ExAC
gnomAD
rs565543436
CA812505
823 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs565543436
CA812504
COSM3805337
823 R>Q Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA21656522
rs756975863
823 R>W No ClinGen
ExAC
gnomAD
rs1378330342
CA340009287
824 P>S No ClinGen
gnomAD
CA812506
rs757885367
825 T>A No ClinGen
ExAC
gnomAD
rs912770030
CA21656525
826 M>V No ClinGen
TOPMed
rs781719563
CA812507
830 T>A No ClinGen
ExAC
gnomAD
rs781719563
CA340009422
830 T>P No ClinGen
ExAC
gnomAD
rs367652888
CA812509
831 T>M No ClinGen
ESP
ExAC
gnomAD
rs928654396
CA21656540
832 A>T No ClinGen
TOPMed
CA812514
rs759632662
833 M>I No ClinGen
ExAC
gnomAD
CA812511
rs749468850
833 M>L No ClinGen
ExAC
gnomAD
CA812513
rs774490865
833 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA812512
rs749468850
833 M>V No ClinGen
ExAC
gnomAD
CA812515
rs772113752
835 T>S No ClinGen
ExAC
gnomAD
CA340009570
rs775486548
836 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs775486548
CA812516
836 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs763916687
CA812518
838 L>V No ClinGen
ExAC
gnomAD
rs1400453918
CA340009637
839 Q>R No ClinGen
gnomAD
CA340009706
rs1465532015
842 P>S No ClinGen
gnomAD
rs761748789
CA812520
844 K>R No ClinGen
ExAC
gnomAD
rs757908835
CA812523
849 E>G No ClinGen
ExAC
gnomAD
CA340009825
rs1343911174
849 E>K No ClinGen
TOPMed
gnomAD
CA340009854
rs1258769633
850 L>P No ClinGen
gnomAD
CA812524
rs140594531
854 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1317417745
CA340009908
854 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1308478616
CA340009920
856 Q>R No ClinGen
TOPMed
CA340009936
rs1570555758
857 Y>D No ClinGen
Ensembl
CA812526
rs756642128
858 C>S No ClinGen
ExAC
TOPMed
gnomAD
CA812529
rs567638313
859 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA812528
rs567638313
859 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA21656675
rs567638313
859 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA21656661
rs903248544
859 R>W No ClinGen
TOPMed
gnomAD
CA812531
rs779194364
860 A>P No ClinGen
ExAC
gnomAD
CA812530
rs779194364
860 A>T No ClinGen
ExAC
gnomAD
CA340010012
rs1168878964
861 D>E No ClinGen
gnomAD
rs775437828
CA812533
861 D>N No ClinGen
ExAC
gnomAD
rs536681179
COSM909871
CA812534
862 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs144536559
CA812535
863 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs764998994
CA812538
864 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA812537
rs761693767
864 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs750031933
CA812539
866 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs1339921157
CA340010103
867 T>A No ClinGen
gnomAD
CA812540
rs556307288
867 T>S No ClinGen
1000Genomes
ExAC
gnomAD
rs141782417
CA812541
868 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199942675
CA21656766
869 D>E No ClinGen
1000Genomes
CA340010138
rs1253788010
869 D>G No ClinGen
TOPMed
rs751089120
CA812542
869 D>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 869 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778225680
CA812544
871 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs569510577
CA21656797
872 K>R No ClinGen
Ensembl
CA812547
rs374488420
873 D>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374488420
CA812548
873 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA812546
rs757630823
873 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs758580532
CA812549
874 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs780471380
CA812550
874 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA812552
rs768921761
875 Q>* No ClinGen
ExAC
gnomAD
rs776694646
CA812553
879 V>A No ClinGen
ExAC
gnomAD
rs748106240
CA812554
880 T>S No ClinGen
ExAC
gnomAD
rs143833153
CA812556
881 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340010396
rs1380026703
883 H>Q No ClinGen
gnomAD
rs762614069
CA812557
883 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA340010417
rs1396031076
884 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1386301338
CA340010425
885 G>W No ClinGen
TOPMed
rs1228814877
CA340010435
886 T>A No ClinGen
TOPMed
gnomAD
rs765928388
CA812558
887 T>I No ClinGen
ExAC
gnomAD
rs1570557821
CA340010449
888 Y>C No ClinGen
Ensembl
CA340010466
rs1275615193
889 I>T No ClinGen
Ensembl
rs759047074
CA812560
889 I>V No ClinGen
ExAC
gnomAD
CA340010492
rs767075536
891 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs199570599
CA812563
891 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA812562
rs199570599
891 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA812561
rs767075536
COSM426315
891 R>W Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs975633818
CA21656871
894 A>D No ClinGen
Ensembl
CA812564
rs765598646
894 A>T No ClinGen
ExAC
gnomAD
rs1186558185
CA340010590
COSM76120
896 N>K ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA21656881
rs374013593
897 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA812566
rs149018733
COSM1639895
897 R>Q stomach [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA812565
rs374013593
897 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340010603
rs1183508834
898 A>T No ClinGen
gnomAD
rs780417996
CA812567
899 G>S No ClinGen
ExAC
gnomAD
CA340010639
rs747292574
900 L>M No ClinGen
ExAC
gnomAD
rs1215219655
CA340010648
900 L>W No ClinGen
TOPMed
CA21656919
rs921513300
901 G>S No ClinGen
gnomAD
rs1399141346
CA340010675
902 E>Q No ClinGen
gnomAD
CA21656927
CA812571
rs146318210
904 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143093912
CA812572
905 E>K No ClinGen
ESP
ExAC
gnomAD
CA340010737
rs143093912
905 E>Q No ClinGen
ESP
ExAC
gnomAD
rs1452022275
CA340010759
906 K>T No ClinGen
gnomAD
CA812573
rs773247312
907 E>K No ClinGen
ExAC
gnomAD
TCGA novel 907 E>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 910 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770780891
CA812575
912 E>A No ClinGen
ExAC
gnomAD
CA21656973
rs138034295
912 E>K No ClinGen
ESP
CA340010862
rs1570559024
913 D>A No ClinGen
Ensembl
CA340010874
rs1327537333
914 L>M No ClinGen
TOPMed
rs934709458
CA21656984
914 L>P No ClinGen
Ensembl
CA340010935
rs1372400634
917 G>S No ClinGen
gnomAD
CA340010948
rs1570559229
918 F>L No ClinGen
Ensembl
rs1221716037
CA340010954
918 F>Y No ClinGen
gnomAD
rs759204249
CA340010990
920 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs759204249
CA812577
920 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs201215550
CA21656994
923 H>R No ClinGen
1000Genomes
gnomAD
CA340011075
rs1202491441
925 T>S No ClinGen
gnomAD
CA812579
rs371676929
929 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340011221
rs1162437393
934 L>P No ClinGen
TOPMed
rs765630159
CA812581
935 A>V No ClinGen
ExAC
gnomAD
rs758676706
CA812583
937 D>G No ClinGen
ExAC
gnomAD
rs200617199
CA812584
938 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1374746151
CA340011290
938 P>T No ClinGen
TOPMed
rs200457473
CA21657016
941 L>V No ClinGen
ExAC
TOPMed
gnomAD
RCV000953642
CA812587
rs144156070
942 A>V No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs368237069
CA340012470
945 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340012477
rs1439775308
946 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs372831256
CA812590
947 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM267285
rs749309238
CA812591
947 R>H large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
rs749309238
CA812593
947 R>L No ClinGen
ExAC
TOPMed
rs770658279
CA812594
949 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1319465451
CA340012549
950 S>G No ClinGen
gnomAD
rs1319465451
CA340012554
COSM3735353
950 S>R skin [Cosmic] No ClinGen
cosmic curated
gnomAD
rs377187728
CA812595
950 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA812597
rs531936522
COSM1687591
952 T>I skin [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
CA340012584
rs1570560625
952 T>P No ClinGen
Ensembl
rs763045167
CA812599
COSM909873
953 V>M endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA340012632
rs1570560846
954 V>G No ClinGen
Ensembl
CA812601
rs773533532
954 V>M No ClinGen
ExAC
gnomAD
CA21657135
rs975560273
955 F>L No ClinGen
Ensembl
CA340012665
rs141556963
956 R>L No ClinGen
ESP
TOPMed
CA21657140
rs141556963
956 R>Q No ClinGen
ESP
TOPMed
rs967562018
CA21657145
957 D>H No ClinGen
TOPMed
gnomAD
CA812602
rs763519084
958 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA340012722
rs1168370988
959 N>I No ClinGen
TOPMed
gnomAD
CA340012720
rs1168370988
959 N>S No ClinGen
TOPMed
gnomAD
rs766805311
CA812603
962 Q>* No ClinGen
ExAC
gnomAD
rs1407965948
CA340012774
962 Q>R No ClinGen
gnomAD
rs760025156
CA812605
963 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA812604
rs751990346
963 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 963 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1557830376
CA340012817
965 Q>K No ClinGen
Ensembl
rs767813886
CA812606
968 T>M No ClinGen
ExAC
gnomAD
CA812608
rs559214265
969 T>A No ClinGen
1000Genomes
ExAC
gnomAD
rs1230582995
CA340012932
970 D>E No ClinGen
gnomAD
rs150944733
CA812609
972 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753655848
CA812610
972 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs753655848
CA340012954
972 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA812611
rs369570389
977 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778630314
CA812612
981 D>G No ClinGen
ExAC
gnomAD
TCGA novel 981 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs942033991
CA21657183
982 T>A No ClinGen
TOPMed
gnomAD
TCGA novel 982 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771919313
CA812614
983 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs771919313
CA340013107
983 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA812616
rs150026558
985 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA812617
rs150026558
985 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 985 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA812618
rs776232578
986 I>T No ClinGen
ExAC
gnomAD
rs763500218
CA812619
987 K>R No ClinGen
ExAC
gnomAD
CA340013186
COSM212227
rs1382248110
989 R>C breast [Cosmic] No ClinGen
cosmic curated
gnomAD
CA812620
rs548061948
989 R>H Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA340013181
rs1382248110
989 R>S No ClinGen
gnomAD
CA340013200
rs759978013
990 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA812622
rs759978013
990 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1316424363
CA340013253
993 S>R No ClinGen
gnomAD
rs767986292
CA812623
995 G>V No ClinGen
ExAC
gnomAD
CA340013313
rs142730107
996 S>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA812624
rs142730107
996 S>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA21657266
rs926458641
997 G>V No ClinGen
Ensembl
CA340013328
rs1336043622
998 P>A No ClinGen
TOPMed
CA812625
rs760959754
1001 P>S No ClinGen
ExAC
gnomAD
rs1204814396
CA340013376
1002 S>G No ClinGen
gnomAD
rs372819126
CA812627
1006 R>Q No ClinGen
1000Genomes
ESP
ExAC
gnomAD
CA812626
rs764041935
1006 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA812629
rs765129553
1009 P>L No ClinGen
ExAC
gnomAD
CA21657301
rs890253672
COSM3400814
1009 P>S central_nervous_system [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA340013475
rs890253672
1009 P>T No ClinGen
TOPMed
gnomAD
rs758129822
CA340013484
1010 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA812631
rs758129822
1010 V>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1015 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340013626
rs1557832814
1015 A>T No ClinGen
Ensembl
CA812663
rs776774997
1016 K>E No ClinGen
ExAC
gnomAD
CA812664
rs373189867
1016 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1479176471
CA340013683
1019 R>G No ClinGen
TOPMed
gnomAD
CA812665
COSM1639896
rs376126555
1019 R>Q stomach [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA340013685
rs1479176471
1019 R>W No ClinGen
TOPMed
gnomAD
CA812669
rs147874335
1021 A>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA340013711
rs1296789107
1021 A>T No ClinGen
TOPMed
gnomAD
COSM1321047
rs147874335
CA812668
1021 A>V ovary [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1024 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767435818
CA812671
1024 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs1236358043
CA340013777
1025 K>N No ClinGen
gnomAD
rs752333602
CA812672
1026 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA21657931
rs752333602
1026 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA340013874
rs753377322
1033 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs753377322
CA812675
1033 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA340013898
rs1203710565
1034 V>A No ClinGen
TOPMed
rs1226668425
CA340013893
1034 V>F No ClinGen
gnomAD
CA812677
rs780607373
1036 D>N No ClinGen
ExAC
gnomAD
rs932626438
CA21657975
1037 S>P No ClinGen
Ensembl
CA812679
rs768996333
1038 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1489613514
CA340013929
1038 Y>N No ClinGen
gnomAD
CA340013956
rs1428406780
1041 A>S No ClinGen
gnomAD
CA340013961
rs1169040424
1041 A>V No ClinGen
gnomAD
rs1387459525
CA340013976
1043 P>S No ClinGen
gnomAD
rs996563431
CA21658286
1047 L>V No ClinGen
TOPMed
CA812705
rs749482455
1049 N>H No ClinGen
ExAC
gnomAD
CA340014190
rs1336067113
1050 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA340014183
rs1470249056
1050 G>R No ClinGen
gnomAD
rs774328700
CA812707
1051 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1226243678
CA340014250
COSM909875
1053 V>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1570576124
CA340014291
1055 V>G No ClinGen
Ensembl
CA812709
rs372260512
1055 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340014280
rs372260512
1055 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775609904
CA812710
1056 D>V No ClinGen
ExAC
gnomAD
CA812713
rs776291761
1057 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs764039671
CA812712
1057 G>R No ClinGen
ExAC
gnomAD
CA812714
rs761400999
1059 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1570576425
CA340014375
1060 M>I No ClinGen
Ensembl
CA340014357
rs1479762337
1060 M>V No ClinGen
gnomAD
CA812718
rs562011415
1061 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM1602443
rs571838340
CA812716
1061 R>W liver [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA812719
rs185189309
1062 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA21658317
rs937549257
1064 I>V No ClinGen
TOPMed
gnomAD
CA812722
rs749489783
1065 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA812724
rs138775864
1068 Q>R No ClinGen
ESP
ExAC
gnomAD
rs1345537230
CA340014534
1071 T>A No ClinGen
gnomAD
CA340014537
rs1222402946
1071 T>R No ClinGen
gnomAD
rs201157421
CA340014540
1072 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA812725
rs201157421
1072 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA340014543
rs1309209393
1072 E>V No ClinGen
TOPMed
CA812726
rs772345902
1074 S>L No ClinGen
ExAC
gnomAD
CA812728
rs746959174
1076 V>E No ClinGen
ExAC
gnomAD
CA340014578
rs1269874113
1078 M>V No ClinGen
gnomAD
CA812730
rs776311252
1080 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA340014596
COSM1263473
rs1169752499
1080 R>H oesophagus [Cosmic] No ClinGen
cosmic curated
TOPMed
CA21658375
rs1004871676
1081 G>D No ClinGen
Ensembl
CA812731
rs761716835
1082 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA812732
rs764765679
1083 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs1446354822
CA340014634
1086 G>A No ClinGen
TOPMed
gnomAD
CA812735
rs374873502
1094 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1427598531
CA340014683
1094 R>H No ClinGen
gnomAD
rs1427598531
CA340014685
1094 R>L No ClinGen
gnomAD
rs374873502
CA340014681
1094 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1365828057
CA340014697
1096 A>V No ClinGen
gnomAD
CA21658428
rs1052391678
1098 D>A No ClinGen
gnomAD
CA812736
rs369561113
1098 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 1098 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1270142418
CA340014726
1101 P>L No ClinGen
gnomAD
rs1292713576
CA340014732
1102 H>Q No ClinGen
gnomAD
CA21658450
rs908069420
1102 H>R No ClinGen
TOPMed
gnomAD
CA340014729
rs1340394688
COSM1296474
1102 H>Y Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs756648293
CA812738
1104 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA21658493
rs556597635
1106 P>A No ClinGen
TOPMed
gnomAD
rs1040485073
CA21658495
1106 P>H No ClinGen
TOPMed
CA340014767
rs1193744322
1108 S>F No ClinGen
gnomAD
rs1241454644
CA340014768
1109 A>T No ClinGen
TOPMed
gnomAD
rs922030109
CA21658497
1110 Y>C No ClinGen
TOPMed
CA812741
rs754133916
1111 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1466581866
CA340014799
1113 D>G No ClinGen
TOPMed
rs1470313594
CA340014807
1114 G>D No ClinGen
gnomAD
CA812744
rs746151545
1114 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs758496561
CA812745
1115 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs780287442
CA812746
1115 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs372991117
COSM909877
CA812748
1117 D>N endometrium Variant assessed as Somatic; 4.629e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA340014821
rs372991117
1117 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147294972
CA812750
1120 M>L No ClinGen
ESP
ExAC
gnomAD
rs147294972
CA812751
1120 M>V No ClinGen
ESP
ExAC
gnomAD
CA340014847
rs1249672058
1121 P>S No ClinGen
TOPMed
CA340014854
rs1316134423
1122 H>Y No ClinGen
gnomAD
rs1052346675
CA340014860
1123 V>L No ClinGen
TOPMed
gnomAD
rs1052346675
CA21658549
1123 V>M No ClinGen
TOPMed
gnomAD
rs762596997
CA340014871
1124 Q>H No ClinGen
ExAC
gnomAD
rs144922906
CA812756
1127 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754439849
CA812758
1128 L>F No ClinGen
ExAC
gnomAD
rs762075103
CA812759
1128 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs1433877718
CA340014908
1129 V>I No ClinGen
gnomAD
CA340014972
rs1177703423
1131 W>R No ClinGen
gnomAD
CA812785
rs754954516
1132 F>L No ClinGen
ExAC
gnomAD
CA21658897
rs751794621
1135 V>A No ClinGen
TOPMed
rs1449609779
CA340015047
1137 V>A No ClinGen
gnomAD
rs1300227430
CA340015041
1137 V>L No ClinGen
gnomAD
CA340015040
rs1300227430
1137 V>M No ClinGen
gnomAD
CA812790
rs749053302
1139 I>F No ClinGen
ExAC
gnomAD
CA812791
rs749053302
1139 I>V No ClinGen
ExAC
gnomAD
CA812792
CA340015082
rs778528006
1140 D>E No ClinGen
ExAC
gnomAD
rs367745532
CA812793
1141 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs568722457
CA812794
1141 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs568722457
CA21658968
1141 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA812798
rs781399271
1144 G>E No ClinGen
ExAC
gnomAD
COSM3718377
CA812797
rs182011131
1144 G>R upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1293888921
CA340015125
1145 S>G No ClinGen
TOPMed
rs368161767
CA812800
1146 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1147 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA812801
rs774648724
1148 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1199546067
CA340015163
1148 T>S No ClinGen
gnomAD
CA812803
rs767444947
1149 P>L No ClinGen
ExAC
gnomAD
rs935298487
CA21659050
1150 R>K No ClinGen
TOPMed
gnomAD
CA340015186
rs1373936203
1150 R>S No ClinGen
gnomAD
CA340015188
rs1429515335
1151 W>R No ClinGen
gnomAD
CA812804
rs752802502
1152 S>G No ClinGen
ExAC
gnomAD
CA812805
rs756190030
1153 T>I No ClinGen
ExAC
gnomAD
CA340015221
rs1405832871
1154 P>A No ClinGen
gnomAD
rs764015900
CA812806
1154 P>L No ClinGen
ExAC
gnomAD
CA812810
rs745474278
1155 E>G No ClinGen
ExAC
gnomAD
rs199816949
CA812809
1155 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340015246
rs1427552012
1156 E>G No ClinGen
TOPMed
rs1570582210
CA340015253
1157 L>M No ClinGen
Ensembl
TCGA novel 1159 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340015280
rs779610758
1159 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs779610758
CA812812
1159 L>Q No ClinGen
ExAC
TOPMed
gnomAD
rs780748743
CA21659172
1160 D>N No ClinGen
gnomAD
rs550783962
CA812814
1161 E>K No ClinGen
1000Genomes
ExAC
gnomAD
CA340016406
rs1183169145
1165 A>T No ClinGen
gnomAD
CA812840
rs768685317
1166 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA812842
rs761933077
1167 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA812841
rs373597673
1167 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs373597673
CA340016428
1167 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340016432
rs1209891475
1167 E>V No ClinGen
gnomAD
rs765214291
CA340016463
1168 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA812844
rs750382273
1169 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA812846
rs766088168
1170 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs540407495
CA812847
1171 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1469140370
CA340016521
1172 E>G No ClinGen
TOPMed
CA340016534
rs754700311
1173 Q>* No ClinGen
ExAC
gnomAD
CA812850
rs754700311
1173 Q>E No ClinGen
ExAC
gnomAD
CA812853
rs1041522982
1173 Q>R No ClinGen
TOPMed
COSM3671770
rs377569778
CA812857
1174 R>Q prostate [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA812856
rs549143666
1174 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs200483026
CA812859
1175 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA812858
rs755754272
1175 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs772418794
CA812861
1176 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs368885602
CA812860
1176 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs202117609
CA812863
1177 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA812862
rs369419270
1177 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs140315523
CA812865
1178 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA812864
rs768846692
1178 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1309641384
CA340016626
1179 Q>R No ClinGen
gnomAD
rs1315505195
CA340016656
1181 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1037410695
CA21660971
1182 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA812868
COSM27006
rs138093418
1182 R>H kidney [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA812869
rs530770514
1183 L>V No ClinGen
1000Genomes
ExAC
gnomAD
CA812870
rs775642672
1184 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA812872
rs766148161
1185 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA812871
rs766148161
1185 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs759442309
CA812873
1188 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs759442309
CA340016782
1188 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA812875
rs752458078
1191 L>M No ClinGen
ExAC
gnomAD
CA812876
rs755593552
1192 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA812877
rs763517386
1193 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs150503655
CA21661025
1194 L>P No ClinGen
ESP
TOPMed
CA812880
rs748552530
1195 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA812884
rs748370657
1199 T>I No ClinGen
ExAC
gnomAD
rs1292584776
CA340016964
1200 L>V No ClinGen
gnomAD
rs1451115204
CA340016990
1202 D>N No ClinGen
gnomAD
CA812886
rs200885607
1205 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA812888
rs770740453
1207 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA812887
rs368723795
1207 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA812889
rs774497940
1208 G>D No ClinGen
ExAC
gnomAD
CA21661092
rs989434962
1208 G>S No ClinGen
Ensembl
CA340017152
rs1460405185
1210 Y>H No ClinGen
gnomAD
CA812893
rs376364770
1212 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA812891
rs201150809
1212 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1557839643
CA340017233
1214 L>M No ClinGen
Ensembl
rs753268231
CA812895
1215 S>F No ClinGen
ExAC
gnomAD
rs566920391
CA812896
1216 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA340017288
rs1553209425
1217 D>G No ClinGen
Ensembl
CA812898
rs200603784
1217 D>H No ClinGen
1000Genomes
ExAC
gnomAD
rs755264682
CA812899
1220 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA812901
rs748351910
1224 V>M No ClinGen
ExAC
gnomAD
rs928460748
CA21661141
1225 L>F No ClinGen
Ensembl
CA340017474
rs1286475973
1226 A>T No ClinGen
gnomAD
CA340017493
rs1466179412
1227 S>P No ClinGen
gnomAD
rs1209338659
CA340017582
1231 P>A No ClinGen
gnomAD
CA21661143
rs984033281
1231 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1209338659
CA340017584
1231 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs778093838
CA812903
1232 M>L No ClinGen
ExAC
gnomAD
CA812904
rs199504853
1232 M>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA812906
rs774375134
1233 D>E No ClinGen
ExAC
gnomAD
CA812905
rs771102511
1233 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 1234 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA21661473
rs928942520
1236 R>C No ClinGen
TOPMed
gnomAD
CA812933
rs772686657
1236 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA340017837
rs772686657
1236 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA340017824
rs928942520
1236 R>S No ClinGen
TOPMed
gnomAD
rs1307184836
CA340017844
1237 Y>H No ClinGen
TOPMed
gnomAD
CA812934
rs199960147
1238 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA812935
rs768005889
1239 S>P No ClinGen
ExAC
gnomAD
CA812936
rs753303584
1242 Y>* No ClinGen
ExAC
gnomAD
rs760891458
CA340017980
1243 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs760891458
CA812937
1243 S>W No ClinGen
ExAC
TOPMed
gnomAD
rs1306249673
CA340018017
1244 D>E No ClinGen
gnomAD
CA812941
rs371253686
1247 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371253686
CA812940
1247 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA812942
rs375842660
1248 V>F No ClinGen
ESP
ExAC
gnomAD
CA812943
rs375842660
1248 V>I No ClinGen
ESP
ExAC
gnomAD
rs779846237
CA812944
1249 Q>R No ClinGen
ExAC
gnomAD
CA812946
rs768291568
1252 P>L No ClinGen
ExAC
CA812945
rs746966652
1252 P>S No ClinGen
ExAC
gnomAD
rs781060877
CA812947
1253 A>V No ClinGen
ExAC
gnomAD
CA812949
rs747982551
1254 Q>H No ClinGen
ExAC
gnomAD
rs769404453
CA812950
1255 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs1165482795
CA340018267
1256 Q>H No ClinGen
TOPMed
CA812951
rs146804143
1257 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA812953
rs145421480
1259 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA812956
rs764318613
1261 M>I No ClinGen
ExAC
gnomAD
rs777034925
CA812957
COSM909878
1265 T>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA340018484
rs1351632915
1266 G>D No ClinGen
gnomAD
CA812961
COSM909879
rs201841127
1268 V>M Variant assessed as Somatic; 0.0001387 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA340018549
rs1570598703
1271 V>A No ClinGen
Ensembl
rs1282776699
CA340018608
1275 I>V No ClinGen
Ensembl
CA812966
rs754919062
1276 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA812965
rs754919062
1276 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs747931170
CA812967
1277 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA812969
rs146960105
1280 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA812972
rs773936534
1282 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs753964488
CA21661669
1282 L>P No ClinGen
Ensembl
CA813000
rs773686451
1289 T>N No ClinGen
ExAC
gnomAD
rs763264668
CA813001
1290 H>R No ClinGen
ExAC
gnomAD
rs1448221458
CA340019116
1291 S>C No ClinGen
TOPMed
gnomAD
rs1448221458
CA340019117
1291 S>F No ClinGen
TOPMed
gnomAD
CA21663815
rs763328337
1292 P>L No ClinGen
TOPMed
CA340019128
rs1253960522
1293 S>F No ClinGen
TOPMed
CA340019136
rs1570624727
1295 K>E No ClinGen
Ensembl
CA813006
rs752592428
1301 G>R No ClinGen
ExAC
gnomAD
rs760628972
CA813007
1301 G>V No ClinGen
ExAC
gnomAD
CA21663850
rs993036102
1306 L>F No ClinGen
TOPMed
rs1049953768
CA21663852
1308 A>V No ClinGen
TOPMed
gnomAD
rs764069317
CA813008
1312 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs753601305
CA813009
1313 P>A No ClinGen
ExAC
gnomAD
CA340019282
rs113465093
1317 R>G No ClinGen
TOPMed
CA813010
rs777629923
1317 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs113465093
CA21663876
1317 R>W No ClinGen
TOPMed
CA340019287
rs1484052835
1318 R>K No ClinGen
gnomAD
CA21663904
rs1044521354
1321 Y>C No ClinGen
TOPMed
gnomAD
CA21663920
rs551264881
1322 Q>E No ClinGen
TOPMed
gnomAD
CA340019323
rs1411223375
1323 T>N No ClinGen
TOPMed
TCGA novel 1324 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1237499608
CA340020236
1326 M>I No ClinGen
gnomAD
rs1189198619
CA340020232
1326 M>T No ClinGen
TOPMed
gnomAD
CA813054
rs765265238
1327 R>G No ClinGen
ExAC
gnomAD
rs1163354852
CA340020240
1327 R>Q No ClinGen
TOPMed
gnomAD
CA340020249
rs1414794847
1329 H>N No ClinGen
TOPMed
gnomAD
CA340020269
rs1458274555
1330 P>L No ClinGen
gnomAD
TCGA novel 1330 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA813055
rs772848582
1332 I>V No ClinGen
ExAC
gnomAD
rs762905507
CA813056
1333 P>S No ClinGen
ExAC
gnomAD
rs145593130
CA21667782
COSM108155
1335 T>I skin [Cosmic] No ClinGen
cosmic curated
Ensembl
rs771277235
CA21667793
1336 D>N No ClinGen
gnomAD
CA340020338
rs771277235
1336 D>Y No ClinGen
gnomAD
rs751268560
CA340020352
1337 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs371752134
CA813059
1338 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA21667817
rs773927069
1340 N>D No ClinGen
Ensembl
CA813062
rs754321401
1340 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs754321401
CA813061
1340 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs1348295565
CA340020401
1341 I>V No ClinGen
gnomAD
rs746215058
CA813064
1342 E>G No ClinGen
ExAC
gnomAD
CA813063
rs779515985
1342 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs369549174
CA813065
1343 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs761487819
CA813066
1343 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA21667867
rs761487819
1343 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA813068
rs202114940
1345 K>R No ClinGen
1000Genomes
ExAC
gnomAD
rs528728508
CA21667902
1347 N>S No ClinGen
TOPMed
gnomAD
CA813070
rs748296641
1348 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs748296641
CA21667932
1348 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1401725517
CA340020522
1350 L>R No ClinGen
gnomAD
rs769612296
CA813071
1351 K>E No ClinGen
ExAC
gnomAD
rs1220050094
CA340020529
1351 K>T No ClinGen
TOPMed
TCGA novel 1354 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs944539538
CA21667938
1355 E>A No ClinGen
TOPMed
CA813072
rs773257469
1355 E>D No ClinGen
ExAC
gnomAD
rs762776569
CA813073
1356 Y>S No ClinGen
ExAC
gnomAD
CA340020606
rs1420797332
1357 E>K No ClinGen
gnomAD
rs763667914
CA813097
1359 I>V No ClinGen
ExAC
gnomAD
rs763477204
CA813099
1360 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1206641795
CA340020906
1363 Q>P No ClinGen
TOPMed
CA340020926
rs1339395530
1364 Q>L No ClinGen
TOPMed
rs751913526
CA813101
1366 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA340020953
rs751913526
1366 T>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1368 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1370341354
CA340020999
1369 N>S No ClinGen
gnomAD
CA813102
rs755425568
1370 S>P No ClinGen
ExAC
TCGA novel 1373 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340021059
rs1203282758
1374 V>L No ClinGen
TOPMed
gnomAD
CA340021056
rs1203282758
1374 V>M No ClinGen
TOPMed
gnomAD
rs1165576828
CA340021130
1380 R>H No ClinGen
TOPMed
gnomAD
CA813103
rs781210446
1381 Y>C No ClinGen
ExAC
gnomAD
CA21674070
rs886198606
1381 Y>D No ClinGen
gnomAD
rs752966262
CA21674073
1382 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs752966262
COSM909882
CA813104
1382 A>V Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA813108
rs148741898
1386 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148741898
CA813109
1386 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1388 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760409112
CA813113
1389 H>D No ClinGen
ExAC
gnomAD
rs1210951527
CA340021257
1391 R>* No ClinGen
gnomAD
rs1210951527
CA340021255
1391 R>G No ClinGen
gnomAD
CA813114
rs768005633
1392 V>I No ClinGen
ExAC
gnomAD
rs776101253
CA813115
1393 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA813116
rs761375386
1395 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1417036459
CA340021345
1398 D>N No ClinGen
gnomAD
rs895328726 1399 G>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761012325
CA813141
1399 G>D No ClinGen
ExAC
gnomAD
CA340021362
rs1459855311
1399 G>S No ClinGen
TOPMed
gnomAD
rs764399239
CA813142
1400 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs202116615
CA813145
1402 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA813148
rs758321458
1404 D>A No ClinGen
ExAC
gnomAD
rs758321458
CA813147
1404 D>G No ClinGen
ExAC
gnomAD
CA340021507
rs1249085092
1407 N>S No ClinGen
TOPMed
CA21674491
rs930278268
1409 N>D No ClinGen
Ensembl
rs1427091924
CA340021579
1412 D>N No ClinGen
gnomAD
rs754775343
CA813150
1414 Y>C No ClinGen
ExAC
gnomAD
rs780769007
CA813151
1415 R>C No ClinGen
ExAC
gnomAD
rs370637531
CA813152
COSM909883
1415 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1431134339
CA340021628
1416 K>E No ClinGen
gnomAD
rs1431134339
CA340021631
1416 K>Q No ClinGen
gnomAD
rs1337100027
CA340021678
1419 A>T No ClinGen
gnomAD
rs1328990399
CA340021722
1421 I>V No ClinGen
gnomAD
CA340021738
rs1310657329
1422 A>T No ClinGen
TOPMed
CA813155
rs748798640
1423 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1322347994
CA340021787
1424 Q>P No ClinGen
TOPMed
CA340021850
rs1557869652
1428 P>S No ClinGen
Ensembl
CA340021918
rs1383913294
1431 M>V No ClinGen
TOPMed
rs776942329
CA813160
1433 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA21674576
rs641351
1436 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA340022167
rs1202367134
1442 R>C No ClinGen
gnomAD
CA813163
rs367870850
1442 R>H No ClinGen
ExAC
gnomAD
CA340022188
rs1192576595
1443 T>M No ClinGen
gnomAD
rs1167972950
CA340022207
1444 A>D No ClinGen
gnomAD
rs751468520
CA813166
1444 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA340022218
rs1408645384
1445 T>S No ClinGen
TOPMed
gnomAD
rs1167542100
CA340022256
1446 V>G No ClinGen
gnomAD
CA340022271
rs1395607317
1447 V>A No ClinGen
TOPMed
gnomAD
CA813168
rs535518899
1448 M>T No ClinGen
1000Genomes
ExAC
gnomAD
rs549116245
CA813170
1451 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
COSM1222636
CA813169
rs367752429
1451 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA340022356
rs1570719071
1453 E>G No ClinGen
Ensembl
TCGA novel 1454 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1570719121
CA340022374
1454 E>G No ClinGen
Ensembl
rs1570719151
CA340022381
1455 K>E No ClinGen
Ensembl
CA340022398
rs1570719182
1456 S>A No ClinGen
Ensembl
rs1212688237 1457 R>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA340022409
rs1570719227
1457 R>W No ClinGen
Ensembl
rs1257687543
CA340023750
1458 V>A No ClinGen
gnomAD
rs1212390431
CA340023742
1458 V>I No ClinGen
gnomAD
TCGA novel 1460 C>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA21675236
rs903062795
1462 Q>E No ClinGen
TOPMed
gnomAD
rs778315843
CA813193
1467 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs745409381
CA813194
1467 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1470736677
CA340023844
1468 G>C No ClinGen
gnomAD
CA813195
rs769260975
1469 T>A No ClinGen
ExAC
gnomAD
rs781778248
CA813196
1469 T>I No ClinGen
ExAC
rs1416435157
CA340023854
1470 E>K No ClinGen
TOPMed
gnomAD
rs1313551565
CA340023866
1471 T>S No ClinGen
TOPMed
gnomAD
CA340023879
rs1374926406
1473 G>D No ClinGen
gnomAD
CA340023901
rs1570727242
1476 Q>H No ClinGen
Ensembl
CA21675295
rs1012660995
1477 V>M No ClinGen
TOPMed
gnomAD
rs763118237
CA813200
1478 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1022695131
CA21675314
1480 L>S No ClinGen
TOPMed
CA813203
rs146964251
1481 D>H No ClinGen
ESP
ExAC
CA340023934
rs1459599287
1482 T>K No ClinGen
Ensembl
CA21675319
rs775410354
1483 V>A No ClinGen
ExAC
gnomAD
CA813205
rs775410354
1483 V>G No ClinGen
ExAC
gnomAD
TCGA novel 1483 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1389018689
CA340023943
1484 E>Q No ClinGen
TOPMed
rs1280346162
CA340023953
1485 L>R No ClinGen
gnomAD
CA813206
rs760404112
1486 A>S No ClinGen
ExAC
gnomAD
CA813208
rs371587895
1488 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA813209
rs756825445
1489 T>A No ClinGen
ExAC
gnomAD
CA813210
rs764987244
1489 T>S No ClinGen
ExAC
gnomAD
rs749935647
COSM909885
CA813211
1491 R>C Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs375234489
COSM3400816
CA813212
1491 R>H Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs202030226
CA813215
1494 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA340024006
rs1398514141
1495 L>F No ClinGen
gnomAD
CA340024007
rs1398514141
1495 L>V No ClinGen
gnomAD
rs1391964552
CA340024013
1496 H>Y No ClinGen
gnomAD
rs1165369421
CA340024035
1498 S>R No ClinGen
gnomAD
CA813240
rs142031392
1498 S>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA340024046
rs1290285355
1499 G>A No ClinGen
TOPMed
gnomAD
rs776693106
CA813243
1501 S>R No ClinGen
ExAC
rs1381131887
CA340024057
1501 S>T No ClinGen
gnomAD
rs761445525
CA813244
1504 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA813245
rs769736949
1504 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs190997680
CA813247
1505 E>K No ClinGen
1000Genomes
ExAC
gnomAD
RCV000912168
CA813248
rs17849118
1506 L>V No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1218164234
CA340024094
1507 R>C No ClinGen
TOPMed
gnomAD
CA21675730
rs1028882041
COSM909886
1507 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1176281524
CA340024124
1511 F>C No ClinGen
TOPMed
CA813250
rs759154108
1511 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1476106910
CA340024162
1516 D>G No ClinGen
gnomAD
rs1032025108
CA21675750
1517 H>R No ClinGen
TOPMed
rs113456929
CA813253
1518 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA21675760
rs917133176
1520 P>A No ClinGen
TOPMed
TCGA novel 1520 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA21675762
rs956429904
1525 P>A No ClinGen
Ensembl
rs750825052
CA813255
1525 P>L No ClinGen
ExAC
gnomAD
CA813257
rs758595390
1528 A>D No ClinGen
ExAC
gnomAD
CA813256
rs758595390
1528 A>V No ClinGen
ExAC
gnomAD
rs70937045
CA813259
1531 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs70937045
CA813258
1531 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA813262
rs755881493
1532 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA813261
rs748151594
1532 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs773121796
CA813263
1534 K>E No ClinGen
ExAC
gnomAD
rs762901411
CA340024269
1535 A>P No ClinGen
ExAC
gnomAD
CA813264
rs762901411
1535 A>T No ClinGen
ExAC
gnomAD
rs1237155038
CA340024277
1536 C>Y No ClinGen
gnomAD
CA340024287
rs774058164
CA813266
1537 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA813265
rs770704706
1537 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA340024285
rs770704706
1537 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs758914545
CA813267
1539 L>V No ClinGen
ExAC
gnomAD
rs754258723
CA813269
COSM1667508
1541 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA340024311
rs1418092772
1542 G>R No ClinGen
gnomAD
rs1454942387
CA340024325
1544 M>L No ClinGen
TOPMed
rs563305665
CA813270
1544 M>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA340024331
rs1434767385
1545 V>M No ClinGen
gnomAD
rs1172532472
CA340024338
1546 V>L No ClinGen
gnomAD
rs868712206
CA21675857
1548 C>* No ClinGen
gnomAD
rs767692370 1549 S>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs767692370
CA340024376
1549 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs756268896
CA340024380
1550 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA813297
rs752821972
1550 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs756268896
CA813298
1550 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs917715521
CA21676115
1552 V>A No ClinGen
TOPMed
rs370996086
CA340024389
1552 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370996086
CA813300
1552 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756962072
CA813301
1554 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs778737593
CA813302
1554 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA21676129
rs796130608
1555 T>A No ClinGen
Ensembl
CA813303
rs745698006
1556 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA340024432
rs1216731645
1559 I>S No ClinGen
gnomAD
CA813304
rs548137409
1559 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM1667509
CA813305
rs545781120
1560 V>M large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs766848150
CA813310
1564 M>T No ClinGen
ExAC
gnomAD
rs763422012
CA813309
1564 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA813311
rs139472475
1567 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA340024483
rs1273214223
1567 R>W No ClinGen
TOPMed
CA813312
rs759888484
1568 M>V No ClinGen
ExAC
gnomAD
CA813313
rs767714096
1569 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs908518826
CA21676177
1571 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1430627272
CA340024517
1572 K>E No ClinGen
TOPMed
CA813314
rs752983554
1573 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA340024541
rs1317650582
1575 D>E No ClinGen
TOPMed
gnomAD
CA813316
rs374607021
1575 D>N No ClinGen
ESP
ExAC
gnomAD
CA21676200
rs901266646
1576 I>M No ClinGen
Ensembl
rs754009897
CA813317
1577 Y>C No ClinGen
ExAC
gnomAD
TCGA novel 1578 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340024555
rs1398022225
1578 G>S No ClinGen
gnomAD
CA813319
rs778771796
1580 V>A No ClinGen
ExAC
gnomAD
CA340024569
rs1557875012
1580 V>M No ClinGen
Ensembl
rs779621604
CA813322
1583 M>I No ClinGen
ExAC
gnomAD
CA813321
rs758129076
1583 M>T No ClinGen
ExAC
gnomAD
CA813320
rs745670160
1583 M>V No ClinGen
ExAC
gnomAD
CA340024595
rs746682490
1584 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
COSM426317
rs1302070237
CA340024598
1584 R>Q large_intestine Variant assessed as Somatic; impact. breast [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs768112017
CA813324
1585 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1185864439
CA340024649
1590 M>I No ClinGen
gnomAD
CA813326
rs747718453
1590 M>V No ClinGen
ExAC
gnomAD
CA813327
rs377575574
1593 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1158238606
CA340024723
1595 D>N No ClinGen
gnomAD
rs772345080
CA813330
1598 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA340024824
rs1395449668
1600 I>L No ClinGen
gnomAD
CA340024833
rs1239648530
1600 I>T No ClinGen
gnomAD
CA813331
rs371076941
1601 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA813332
rs760947139
1602 E>A No ClinGen
ExAC
gnomAD
CA813334
rs558223872
1603 A>S No ClinGen
1000Genomes
ExAC
gnomAD
rs373838949
CA813335
1603 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1606 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340024958
rs1344845933
1609 T>A No ClinGen
gnomAD
CA813339
rs145211050
1609 T>M No ClinGen
1000Genomes
ExAC
gnomAD
rs780893841
CA813342
1610 C>Y No ClinGen
ExAC
rs779426523
CA813346
1611 G>D No ClinGen
ExAC
gnomAD
rs200975835
CA813345
1611 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs779426523
TCGA novel
CA340025005
RCV000791076
1611 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ClinVar
NCI-TCGA
ExAC
dbSNP
gnomAD
CA813348
rs772747132
1614 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA340025053
rs1570737818
1615 V>G No ClinGen
Ensembl
rs775973893
CA813349
1617 A>V No ClinGen
ExAC
gnomAD
rs557123403
CA21676365
1618 R>C No ClinGen
1000Genomes
TOPMed
gnomAD
rs761178241
CA813350
1618 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1330495069
CA340025096
1619 N>S No ClinGen
TOPMed
gnomAD
CA813352
rs202169828
1619 N>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1163327417
CA340025130
1621 Y>C No ClinGen
TOPMed
gnomAD
CA813354
rs142117073
1621 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1163327417
CA340025126
1621 Y>S No ClinGen
TOPMed
gnomAD
rs1303429374
CA340025140
1622 A>T No ClinGen
gnomAD
CA813355
rs750332454
1623 H>Y No ClinGen
ExAC
gnomAD
CA813356
rs762765550
1625 Q>R No ClinGen
ExAC
gnomAD
CA813358
rs150085995
1628 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1256630824
CA340025262
1629 Q>H No ClinGen
gnomAD
rs1214567224
CA340025269
1630 V>A No ClinGen
gnomAD
rs754777001
CA813359
1630 V>M No ClinGen
ExAC
gnomAD
rs752315680
CA813361
1631 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA813363
rs777117732
1633 G>E No ClinGen
ExAC
gnomAD
rs748877164
CA813364
1634 E>K No ClinGen
ExAC
gnomAD
CA340025336
rs1557876101
1635 S>R No ClinGen
Ensembl
CA813365
rs758958686
1635 S>R No ClinGen
ExAC
gnomAD
CA813366
rs565355095
1636 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM1581562
CA340025354
rs1397867455
1636 V>M haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA340025383
rs1389621772
1637 T>S No ClinGen
gnomAD
CA813369
rs541451200
1638 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs541451200
CA813370
1638 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1327523720
CA340025394
1638 A>V No ClinGen
gnomAD
TCGA novel 1642 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1570739191
CA340025495
1644 K>M No ClinGen
Ensembl
rs759439345
CA813394
1648 S>N No ClinGen
ExAC
gnomAD
rs767540594
CA813395
1650 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA813396
rs775132901
1651 A>S No ClinGen
ExAC
gnomAD
CA813397
rs775132901
1651 A>T No ClinGen
ExAC
gnomAD
CA21676718
rs532554718
1651 A>V No ClinGen
1000Genomes
rs1377458062
CA340025673
1652 H>Q No ClinGen
TOPMed
gnomAD
CA813398
rs763586039
1653 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs763586039
CA813399
1653 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA813402
rs749990734
1655 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA340025706
rs749990734
1655 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs755516127
CA813403
1655 R>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1656 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1349886664
CA340025769
1658 S>T No ClinGen
gnomAD
rs1016222559
COSM215589
CA21676793
1659 A>T central_nervous_system [Cosmic] No ClinGen
cosmic curated
gnomAD
CA340025814
rs777812290
1660 N>I No ClinGen
ExAC
gnomAD
CA813407
rs777812290
1660 N>S No ClinGen
ExAC
gnomAD
rs565463212
CA340025829
1662 P>A No ClinGen
1000Genomes
ExAC
gnomAD
CA813408
rs565463212
1662 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA813409
rs771183252
1663 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1438768947
CA340025874
1665 K>T No ClinGen
gnomAD
CA340025894
rs1570741869
1666 F>S No ClinGen
Ensembl
CA813410
rs534381986
1668 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA813411
COSM909888
rs746007326
1669 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA340025968
rs771897426
1671 V>E No ClinGen
ExAC
TOPMed
gnomAD
rs771897426
CA813412
1671 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA813413
rs775500719
1672 N>D No ClinGen
ExAC
gnomAD
CA340026068
rs1463828635
1677 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1570742184
CA340026100
1679 T>P No ClinGen
Ensembl
rs1444849774
CA340026122
1680 R>H No ClinGen
TOPMed
gnomAD
rs776380044
CA813416
1687 R>C No ClinGen
ExAC
gnomAD
rs1387514159
CA340026221
1687 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA340026243
rs1219699868
1689 V>M No ClinGen
gnomAD
rs1188744998
CA340026292
1692 S>T No ClinGen
TOPMed
CA340026336
rs1258470133
1694 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1570742730
CA340026371
1696 N>S No ClinGen
Ensembl
TCGA novel 1698 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340026467
rs771181177
1702 G>A No ClinGen
gnomAD
CA21676918
rs771181177
1702 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs139706869
CA813419
1702 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1287074551
CA340026563
1706 Q>R No ClinGen
gnomAD
rs1205474230
CA340026580
1708 A>V No ClinGen
TOPMed
rs751071796
CA813444
1709 Y>C No ClinGen
ExAC
gnomAD
CA813446
rs764644238
1710 I>L No ClinGen
ExAC
gnomAD
rs1410487785
CA340026631
1717 A>T No ClinGen
gnomAD
CA340026657
rs1557878360
1720 T>I No ClinGen
Ensembl
CA813452
rs780147204
COSM909889
1721 E>K oesophagus large_intestine endometrium Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1376549439
CA340026670
1722 D>G No ClinGen
TOPMed
TCGA novel 1723 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1338025567
CA340026683
1724 W>R No ClinGen
TOPMed
CA813453
rs747103988
1725 R>C No ClinGen
ExAC
gnomAD
CA813454
rs754926878
1725 R>H No ClinGen
ExAC
gnomAD
CA813455
rs781342226
1726 M>I No ClinGen
ExAC
gnomAD
rs769736790
CA813457
1728 W>R No ClinGen
ExAC
gnomAD
rs1471237893
CA340026717
1729 E>Q No ClinGen
TOPMed
rs772962387
CA813458
1730 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA813460
rs142050471
1731 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340026759
rs1240227296
1735 I>T No ClinGen
gnomAD
rs773899805
CA813461
1735 I>V No ClinGen
ExAC
gnomAD
CA813462
rs759036059
1736 V>I No ClinGen
ExAC
gnomAD
TCGA novel 1737 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA813463
rs764519639
1739 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA340026788
rs1442172384
1740 K>E No ClinGen
gnomAD
rs1185928664
CA340026790
1740 K>R No ClinGen
gnomAD
CA813467
rs750789308
1742 R>Q No ClinGen
ExAC
gnomAD
CA813466
rs765620781
1742 R>W No ClinGen
ExAC
TOPMed
CA340026817
rs1178019713
1744 M>I No ClinGen
gnomAD
rs1440607876
CA340026824
1745 G>A No ClinGen
TOPMed
TCGA novel 1746 R>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340027760
rs1450905649
1750 H>Q No ClinGen
TOPMed
gnomAD
CA340027823
rs1570750658
1754 P>R No ClinGen
Ensembl
CA340027832
rs1478012102
1755 A>E No ClinGen
gnomAD
CA340027827
rs1265297751
1755 A>T No ClinGen
gnomAD
rs757017636
CA340027858
1757 R>C No ClinGen
ExAC
gnomAD
rs757017636
CA813495
1757 R>G No ClinGen
ExAC
gnomAD
COSM284381
rs372799990
CA813496
1757 R>H Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA813497
rs745550474
1758 S>P No ClinGen
ExAC
gnomAD
CA813498
rs771751666
1759 A>V No ClinGen
ExAC
gnomAD
rs1385558867
CA340027897
1760 R>C No ClinGen
gnomAD
CA813499
rs779513130
1760 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA340027906
rs779513130
1760 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1223441079
CA340027983
1763 Y>F No ClinGen
TOPMed
gnomAD
CA340028029
rs1276775648
1765 V>I No ClinGen
gnomAD
rs1323663408
CA340028052
1766 V>A No ClinGen
gnomAD
rs770277923
CA813501
1767 D>A No ClinGen
ExAC
gnomAD
rs773594682
CA813502
1768 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA813503
rs763330721
1770 A>T No ClinGen
ExAC
gnomAD
rs1430783133
CA340028128
1770 A>V No ClinGen
TOPMed
CA813506
rs759814948
1772 Y>F No ClinGen
ExAC
gnomAD
CA813507
rs767910194
1773 N>S No ClinGen
ExAC
gnomAD
CA21677447
rs201747944
1774 M>V No ClinGen
TOPMed
gnomAD
CA21677451
rs913340844
1775 P>L No ClinGen
gnomAD
rs752820297
CA813508
1775 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs752820297
CA340028274
1775 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs1422196179
CA340028330
1776 Q>H No ClinGen
gnomAD
CA813509
rs151136180
1780 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA813511
rs151136180
1780 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200155899
CA21677483
1781 E>G No ClinGen
1000Genomes
rs201633718
CA21677487
1783 K>R No ClinGen
1000Genomes
CA21677488
rs201039893
1785 T>A No ClinGen
1000Genomes
gnomAD
CA340028517
rs1419632455
1785 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA340028547
rs1557880340
1786 D>V No ClinGen
Ensembl
CA813513
rs746786262
1788 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA21677789
COSM3805343
COSM3805341
rs953278964
1790 G>R Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1427661601
CA340028750
1791 Q>H No ClinGen
gnomAD
CA813549
rs768967831
1796 R>L No ClinGen
ExAC
gnomAD
CA340028827
rs768967831
1796 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs747165352
CA813548
1796 R>W No ClinGen
ExAC
gnomAD
CA340029051
rs1369562264
1807 G>V No ClinGen
gnomAD
CA340029067
rs1570755803
1808 V>G No ClinGen
Ensembl
rs762685023
CA813554
1808 V>M No ClinGen
ExAC
gnomAD
rs1220283248
CA340029074
1809 P>L No ClinGen
TOPMed
gnomAD
rs1370427192
CA340029098
1811 T>I No ClinGen
TOPMed
gnomAD
CA340029112
rs1201742137
1812 G>D No ClinGen
gnomAD
CA340029142
rs1220801019
1813 E>D No ClinGen
TOPMed
CA340029150
rs1309029917
1814 G>E No ClinGen
gnomAD
rs1308023685
CA340029194
1816 I>V No ClinGen
TOPMed
rs1191150782
CA340029255
1819 I>T No ClinGen
gnomAD
rs752086534
CA813559
1820 G>W No ClinGen
ExAC
gnomAD
CA340029288
rs1171906145
1821 Q>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1570756284
CA340029300
1822 V>G No ClinGen
Ensembl
rs1216259641
CA340029324
1824 K>E No ClinGen
TOPMed
rs972813693
CA21677852
1824 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1408438550
CA340029456
1831 Q>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA340029473
rs1339202074
1833 G>E No ClinGen
TOPMed
TCGA novel 1833 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA813560
rs755667245
1834 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs746411435
CA340029512
1836 T>K No ClinGen
ExAC
gnomAD
rs746411435
CA813562
1836 T>M No ClinGen
ExAC
gnomAD
CA340029507
rs1292169218
1836 T>S No ClinGen
TOPMed
rs1212745213
CA340029699
1843 V>M No ClinGen
gnomAD
rs1234724539
CA340029737
1845 R>C No ClinGen
TOPMed
rs755382808
CA813585
1847 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA21677999
rs202216723
1848 V>A No ClinGen
1000Genomes
TOPMed
CA340029800
rs1386581708
1848 V>L No ClinGen
TOPMed
CA21678000
rs1010214181
1850 I>L No ClinGen
TOPMed
CA813587
rs748431718
1850 I>T No ClinGen
ExAC
gnomAD
rs1010214181
CA340029853
1850 I>V No ClinGen
TOPMed
rs1441420459
CA340029883
1851 T>S No ClinGen
TOPMed
gnomAD
CA340029959
rs1384223816
1854 I>T No ClinGen
gnomAD
CA813588
rs770052959
1854 I>V No ClinGen
ExAC
gnomAD
rs150260807
CA813590
1855 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA813592
rs774364089
1858 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA340030027
rs1175556576
1858 R>H No ClinGen
TOPMed
rs1378513685
CA340030032
1859 M>V No ClinGen
gnomAD
CA340030049
rs1570758725
1860 R>C No ClinGen
Ensembl
CA813593
rs373895014
1860 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1143702
CA21678026
1861 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1349236746
CA340030066
1861 Y>C No ClinGen
TOPMed
gnomAD
rs771936458
CA340030061
1861 Y>D No ClinGen
ExAC
TOPMed
gnomAD
rs1349236746
CA340030068
1861 Y>F No ClinGen
TOPMed
gnomAD
CA813594
rs771936458
1861 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA813597
rs763894460
1864 V>M No ClinGen
ExAC
gnomAD
rs866290185
CA21678039
1866 D>G No ClinGen
Ensembl
CA813599
rs761408146
1866 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs766934711
CA340030173
CA813600
1867 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA340030161
rs1351651395
1867 M>L No ClinGen
TOPMed
gnomAD
CA340030159
rs1351651395
1867 M>V No ClinGen
TOPMed
gnomAD
rs752128149
CA813601
1869 Q>P No ClinGen
ExAC
gnomAD
CA813603
rs781600148
COSM1263472
1871 V>M oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA340030246
rs1570759316
1873 T>P No ClinGen
Ensembl
CA340030248
rs1570759316
1873 T>S No ClinGen
Ensembl
rs753061964
CA813604
1874 L>R No ClinGen
ExAC
gnomAD
CA21678107
rs990623648
1874 L>V No ClinGen
gnomAD
rs756325478
CA813605
1875 R>H No ClinGen
ExAC
gnomAD
rs368302488
CA813607
1876 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340030271
rs1446869120
1877 Q>H No ClinGen
gnomAD
rs1376848279
CA340030297
1881 M>I No ClinGen
TOPMed
CA21678120
rs962970239
1884 T>A No ClinGen
TOPMed
gnomAD
CA340030314
rs962970239
1884 T>S No ClinGen
TOPMed
gnomAD
TCGA novel 1885 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1342550191
CA340030342
1886 D>A No ClinGen
gnomAD
CA340030343
rs1342550191
1886 D>G No ClinGen
gnomAD
CA813636
RCV000980615
rs200249684
1889 Q>R No ClinGen
ClinVar
1000Genomes
ExAC
dbSNP
gnomAD
rs986176825
CA21678719
1893 R>C No ClinGen
TOPMed
gnomAD
CA340030392
rs986176825
1893 R>G No ClinGen
TOPMed
gnomAD
RCV000908232
rs141490430
CA813639
1893 R>H No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs764413298
CA813640
1894 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs757485025
CA813642
1899 L>F No ClinGen
ExAC
gnomAD
CA813644
rs750446848
1900 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA340030442
rs1384098301
1901 S>I No ClinGen
gnomAD
rs1458174624
CA340030445
1902 F>I No ClinGen
TOPMed
CA21678776
rs145316280
1905 Y>C No ClinGen
ESP
gnomAD
TCGA novel 1905 Y>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1287556112
CA340030487
1907 T>M No ClinGen
TOPMed
gnomAD

1 associated diseases with P10586

[MIM: 616001]: Aplasia or hypoplasia of the breasts and/or nipples 2 (BNAH2)

A group of congenital deformities encompassing total absence of breasts and nipple (amastia), absence of the nipple (athelia), and absence of the mammary gland (amazia). {ECO:0000269|PubMed:24781087}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A group of congenital deformities encompassing total absence of breasts and nipple (amastia), absence of the nipple (athelia), and absence of the mammary gland (amazia). {ECO:0000269|PubMed:24781087}. Note=The disease is caused by variants affecting the gene represented in this entry.

28 regional properties for P10586

Type Name Position InterPro Accession
domain Tyrosine-specific protein phosphatase, PTPase domain 1351 - 1609 IPR000242-1
domain Tyrosine-specific protein phosphatase, PTPase domain 1638 - 1900 IPR000242-2
domain Tyrosine-specific protein phosphatases domain 1527 - 1598 IPR000387-1
domain Tyrosine-specific protein phosphatases domain 1816 - 1889 IPR000387-2
domain Protein-tyrosine phosphatase, catalytic 1505 - 1606 IPR003595-1
domain Protein-tyrosine phosphatase, catalytic 1794 - 1897 IPR003595-2
domain Immunoglobulin subtype 2 45 - 114 IPR003598-1
domain Immunoglobulin subtype 2 147 - 214 IPR003598-2
domain Immunoglobulin subtype 2 244 - 305 IPR003598-3
domain Immunoglobulin subtype 39 - 125 IPR003599-1
domain Immunoglobulin subtype 141 - 226 IPR003599-2
domain Immunoglobulin subtype 238 - 316 IPR003599-3
domain Fibronectin type III 319 - 411 IPR003961-1
domain Fibronectin type III 414 - 510 IPR003961-2
domain Fibronectin type III 512 - 604 IPR003961-3
domain Fibronectin type III 606 - 706 IPR003961-4
domain Fibronectin type III 709 - 819 IPR003961-5
domain Fibronectin type III 820 - 914 IPR003961-6
domain Fibronectin type III 916 - 1010 IPR003961-7
domain Fibronectin type III 1012 - 1088 IPR003961-8
domain Immunoglobulin-like domain 33 - 123 IPR007110-1
domain Immunoglobulin-like domain 135 - 224 IPR007110-2
domain Immunoglobulin-like domain 232 - 314 IPR007110-3
domain Immunoglobulin I-set 33 - 124 IPR013098-1
domain Immunoglobulin I-set 135 - 216 IPR013098-2
domain Immunoglobulin I-set 232 - 315 IPR013098-3
active_site Protein-tyrosine phosphatase, active site 1546 - 1556 IPR016130-1
active_site Protein-tyrosine phosphatase, active site 1837 - 1847 IPR016130-2

Functions

Description
EC Number 3.1.3.48 Phosphoric monoester hydrolases
Subcellular Localization
  • Membrane; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
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.
neuron projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
neuronal cell body The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

6 GO annotations of molecular function

Name Definition
cell adhesion molecule binding Binding to a cell adhesion molecule.
chondroitin sulfate proteoglycan binding Binding to a chondroitin sulfate proteoglycan, any proteoglycan containing chondroitin sulfate as the glycosaminoglycan carbohydrate unit.
heparin binding Binding to heparin, a member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues.
protein tyrosine phosphatase activity Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate.
protein-containing complex binding Binding to a macromolecular complex.
transmembrane receptor protein tyrosine phosphatase activity Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate.

9 GO annotations of biological process

Name Definition
cell adhesion The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
cell migration The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
negative regulation of receptor binding Any process that stops, prevents or reduces the frequency, rate or extent of a protein or other molecule binding to a receptor.
neuron projection regeneration The regrowth of neuronal processes such as axons or dendrites in response to their loss or damage.
peptidyl-tyrosine dephosphorylation The removal of phosphoric residues from peptidyl-O-phospho-tyrosine to form peptidyl-tyrosine.
protein dephosphorylation The process of removing one or more phosphoric residues from a protein.
regulation of axon regeneration Any process that modulates the frequency, rate or extent of axon regeneration.
synaptic membrane adhesion The attachment of presynaptic membrane to postsynaptic membrane via adhesion molecules that are at least partially embedded in the plasma membrane.
transmembrane receptor protein tyrosine phosphatase signaling pathway The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses protein tyrosine phosphatase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.

9 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P08575 PTPRC Receptor-type tyrosine-protein phosphatase C Homo sapiens (Human) PR
P28827 PTPRM Receptor-type tyrosine-protein phosphatase mu Homo sapiens (Human) PR
Q15262 PTPRK Receptor-type tyrosine-protein phosphatase kappa Homo sapiens (Human) PR
P23468 PTPRD Receptor-type tyrosine-protein phosphatase delta Homo sapiens (Human) PR
Q13332 PTPRS Receptor-type tyrosine-protein phosphatase S Homo sapiens (Human) PR
P43378 PTPN9 Tyrosine-protein phosphatase non-receptor type 9 Homo sapiens (Human) PR
P49446 Ptpre Receptor-type tyrosine-protein phosphatase epsilon Mus musculus (Mouse) PR
Q64487 Ptprd Receptor-type tyrosine-protein phosphatase delta Mus musculus (Mouse) PR
P35822 Ptprk Receptor-type tyrosine-protein phosphatase kappa Mus musculus (Mouse) PR
10 20 30 40 50 60
MAPEPAPGRT MVPLVPALVM LGLVAGAHGD SKPVFIKVPE DQTGLSGGVA SFVCQATGEP
70 80 90 100 110 120
KPRITWMKKG KKVSSQRFEV IEFDDGAGSV LRIQPLRVQR DEAIYECTAT NSLGEINTSA
130 140 150 160 170 180
KLSVLEEEQL PPGFPSIDMG PQLKVVEKAR TATMLCAAGG NPDPEISWFK DFLPVDPATS
190 200 210 220 230 240
NGRIKQLRSG ALQIESSEES DQGKYECVAT NSAGTRYSAP ANLYVRVRRV APRFSIPPSS
250 260 270 280 290 300
QEVMPGGSVN LTCVAVGAPM PYVKWMMGAE ELTKEDEMPV GRNVLELSNV VRSANYTCVA
310 320 330 340 350 360
ISSLGMIEAT AQVTVKALPK PPIDLVVTET TATSVTLTWD SGNSEPVTYY GIQYRAAGTE
370 380 390 400 410 420
GPFQEVDGVA TTRYSIGGLS PFSEYAFRVL AVNSIGRGPP SEAVRARTGE QAPSSPPRRV
430 440 450 460 470 480
QARMLSASTM LVQWEPPEEP NGLVRGYRVY YTPDSRRPPN AWHKHNTDAG LLTTVGSLLP
490 500 510 520 530 540
GITYSLRVLA FTAVGDGPPS PTIQVKTQQG VPAQPADFQA EVESDTRIQL SWLLPPQERI
550 560 570 580 590 600
IMYELVYWAA EDEDQQHKVT FDPTSSYTLE DLKPDTLYRF QLAARSDMGV GVFTPTIEAR
610 620 630 640 650 660
TAQSTPSAPP QKVMCVSMGS TTVRVSWVPP PADSRNGVIT QYSVAYEAVD GEDRGRHVVD
670 680 690 700 710 720
GISREHSSWD LVGLEKWTEY RVWVRAHTDV GPGPESSPVL VRTDEDVPSG PPRKVEVEPL
730 740 750 760 770 780
NSTAVHVYWK LPVPSKQHGQ IRGYQVTYVR LENGEPRGLP IIQDVMLAEA QWRPEESEDY
790 800 810 820 830 840
ETTISGLTPE TTYSVTVAAY TTKGDGARSK PKIVTTTGAV PGRPTMMIST TAMNTALLQW
850 860 870 880 890 900
HPPKELPGEL LGYRLQYCRA DEARPNTIDF GKDDQHFTVT GLHKGTTYIF RLAAKNRAGL
910 920 930 940 950 960
GEEFEKEIRT PEDLPSGFPQ NLHVTGLTTS TTELAWDPPV LAERNGRIIS YTVVFRDINS
970 980 990 1000 1010 1020
QQELQNITTD TRFTLTGLKP DTTYDIKVRA WTSKGSGPLS PSIQSRTMPV EQVFAKNFRV
1030 1040 1050 1060 1070 1080
AAAMKTSVLL SWEVPDSYKS AVPFKILYNG QSVEVDGHSM RKLIADLQPN TEYSFVLMNR
1090 1100 1110 1120 1130 1140
GSSAGGLQHL VSIRTAPDLL PHKPLPASAY IEDGRFDLSM PHVQDPSLVR WFYIVVVPID
1150 1160 1170 1180 1190 1200
RVGGSMLTPR WSTPEELELD ELLEAIEQGG EEQRRRRRQA ERLKPYVAAQ LDVLPETFTL
1210 1220 1230 1240 1250 1260
GDKKNYRGFY NRPLSPDLSY QCFVLASLKE PMDQKRYASS PYSDEIVVQV TPAQQQEEPE
1270 1280 1290 1300 1310 1320
MLWVTGPVLA VILIILIVIA ILLFKRKRTH SPSSKDEQSI GLKDSLLAHS SDPVEMRRLN
1330 1340 1350 1360 1370 1380
YQTPGMRDHP PIPITDLADN IERLKANDGL KFSQEYESID PGQQFTWENS NLEVNKPKNR
1390 1400 1410 1420 1430 1440
YANVIAYDHS RVILTSIDGV PGSDYINANY IDGYRKQNAY IATQGPLPET MGDFWRMVWE
1450 1460 1470 1480 1490 1500
QRTATVVMMT RLEEKSRVKC DQYWPARGTE TCGLIQVTLL DTVELATYTV RTFALHKSGS
1510 1520 1530 1540 1550 1560
SEKRELRQFQ FMAWPDHGVP EYPTPILAFL RRVKACNPLD AGPMVVHCSA GVGRTGCFIV
1570 1580 1590 1600 1610 1620
IDAMLERMKH EKTVDIYGHV TCMRSQRNYM VQTEDQYVFI HEALLEAATC GHTEVPARNL
1630 1640 1650 1660 1670 1680
YAHIQKLGQV PPGESVTAME LEFKLLASSK AHTSRFISAN LPCNKFKNRL VNIMPYELTR
1690 1700 1710 1720 1730 1740
VCLQPIRGVE GSDYINASFL DGYRQQKAYI ATQGPLAEST EDFWRMLWEH NSTIIVMLTK
1750 1760 1770 1780 1790 1800
LREMGREKCH QYWPAERSAR YQYFVVDPMA EYNMPQYILR EFKVTDARDG QSRTIRQFQF
1810 1820 1830 1840 1850 1860
TDWPEQGVPK TGEGFIDFIG QVHKTKEQFG QDGPITVHCS AGVGRTGVFI TLSIVLERMR
1870 1880 1890 1900
YEGVVDMFQT VKTLRTQRPA MVQTEDQYQL CYRAALEYLG SFDHYAT