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

7 structures for Q13332

Entry ID Method Resolution Chain Position Source
2FH7 X-ray 200 A A 1365-1948 PDB
2YD2 X-ray 255 A A 30-244 PDB
2YD3 X-ray 230 A A 30-235 PDB
2YD9 X-ray 260 A A 30-334 PDB
4BPC X-ray 210 A A 1367-1948 PDB
4PBX X-ray 315 A A 30-614 PDB
AF-Q13332-F1 Predicted AlphaFoldDB

985 variants for Q13332

Variant ID(s) Position Change Description Diseaes Association Provenance
CA9109009
rs140472977
RCV000791306
1586 V>M Variant assessed as Somatic; 0.0 impact. NK-cell enteropathy [NCI-TCGA, ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
TCGA novel 4 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200430287 24 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1427468626 40 K>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1064293 48 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777078756 49 V>C Variant assessed as Somatic; 4.644e-05 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 55 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 56 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs146675930 80 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1397380294 100 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 101 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769916725 148 R>Q Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] No NCI-TCGA
rs781304015 150 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs770043743 183 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs774744361 196 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1302269430 224 V>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 238 R>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 238 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs990860881 239 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781664688 243 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1207603443 246 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 260 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 276 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 282 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1423516878 295 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 307 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1218428122 334 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 353 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 359 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs377318412 364 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1383575470 366 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 392 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750721878 403 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 404 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1568465790 405 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1390768500
TCGA novel
414 S>A Variant assessed as Somatic; impact. Variant assessed as Somatic; 4.705e-05 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 414 S>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 425 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754224013 429 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs919253826 429 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 429 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760369713 431 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1237664443 431 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1405091584 435 A>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1205925337 445 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 446 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 454 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 462 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs73545312 462 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs747170106 472 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 498 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1488811231 503 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1260947679 508 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs724159895 511 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 523 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 526 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1196402998 529 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs368361739 542 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs750655279 549 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 568 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs374725933 580 V>M Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] No NCI-TCGA
rs775100072 593 R>C Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 593 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778054699 597 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs760549393 608 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1237159914 610 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1330682967
CA403517735
617 K>R No ClinGen
TOPMed
CA9110167
rs777396253
618 P>L No ClinGen
ExAC
gnomAD
rs374621025
CA9110166
619 S>* No ClinGen
ESP
ExAC
gnomAD
rs752226232
CA9110165
620 A>D No ClinGen
ExAC
gnomAD
rs766486140
CA9110161
621 P>H No ClinGen
ExAC
gnomAD
rs755108907 622 P>L Variant assessed as Somatic; 6.512e-05 impact. [NCI-TCGA] No NCI-TCGA
rs1488250331
CA403517691
622 P>S No ClinGen
TOPMed
gnomAD
CA403517693
rs1488250331
622 P>T No ClinGen
TOPMed
gnomAD
rs760830146
CA9110156
624 D>G No ClinGen
ExAC
gnomAD
rs772048652
CA9110154
630 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs772048652
CA304606168
630 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs779378586
CA9110152
631 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs779378586
CA403517609
631 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1216644787
CA403517582
633 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs771492236
CA9110151
635 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 636 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs868011195
CA304606167
640 R>C No ClinGen
gnomAD
rs150939732
CA9110149
640 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
CA9110148
rs755739102
641 P>L No ClinGen
ExAC
gnomAD
CA304606166
rs994725876
641 P>S No ClinGen
TOPMed
CA304606165
rs1033036953
643 P>A No ClinGen
Ensembl
CA9110145
rs754436545
643 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs766391106
CA9110143
644 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA9110142
rs758460182
644 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs766391106
CA304606164
644 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA403517485
rs766391106
644 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA9110138
rs760884281
646 T>M No ClinGen
ExAC
gnomAD
rs767837276
CA9110137
CA9110136
649 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
gnomAD
NCI-TCGA
CA9110135
rs759529027
650 A>P No ClinGen
ExAC
gnomAD
TCGA novel 650 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA403517438
rs1220417036
652 V>L No ClinGen
gnomAD
rs771403922
CA9110133
655 S>G No ClinGen
ExAC
gnomAD
rs200689431
CA9110132
657 R>C No ClinGen
1000Genomes
ExAC
gnomAD
CA403517403
rs1386910242
657 R>H No ClinGen
TOPMed
gnomAD
CA304606163
rs889829498
659 R>Q No ClinGen
Ensembl
rs200771602
CA9110130
660 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs200771602
CA304606162
660 P>Q No ClinGen
ExAC
gnomAD
CA9110126
rs147784971
663 S>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200172769
CA9110125
663 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs147784971
CA9110127
663 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9110124
rs370707556
664 E>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA403517370
rs1484148894
664 E>Q No ClinGen
gnomAD
rs1372364043
CA403517360
665 D>G No ClinGen
TOPMed
rs1308508280
CA403517362
665 D>N No ClinGen
TOPMed
CA403517347
rs1377623190
666 P>L No ClinGen
TOPMed
gnomAD
CA403517326
rs1355617947
669 K>E No ClinGen
TOPMed
CA403517276
TCGA novel
rs1599550265
673 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
rs919758857
CA304606161
673 G>S No ClinGen
TOPMed
rs759801187
CA9110119
674 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1238574782
CA403517262
675 P>S No ClinGen
gnomAD
rs1238574782
CA403517265
675 P>T No ClinGen
gnomAD
rs376058028
CA9110117
676 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1313475733
CA403517220
680 Q>E No ClinGen
gnomAD
CA403517213
rs1306570922
680 Q>H No ClinGen
gnomAD
CA304606160
rs1036934835
684 E>K No ClinGen
TOPMed
gnomAD
rs1036934835
CA403517185
684 E>Q No ClinGen
TOPMed
gnomAD
rs1333782961
CA403517164
685 A>V No ClinGen
gnomAD
TCGA novel 686 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770401761
CA9110113
689 W>* No ClinGen
ExAC
gnomAD
rs568688962
CA9110110
693 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9110108
rs370330291
695 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA403517048
rs1240330020
696 T>I No ClinGen
gnomAD
rs778710485
CA9110105
698 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs981031714
CA304606159
699 H>N No ClinGen
Ensembl
CA9110103
rs753552451
701 E>G No ClinGen
ExAC
gnomAD
rs757257991
CA9110104
701 E>Q No ClinGen
ExAC
rs147750933
CA9110102
703 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs945177819
CA403516984
704 P>L No ClinGen
TOPMed
gnomAD
rs945177819
CA304606158
704 P>R No ClinGen
TOPMed
gnomAD
CA403516976
rs1243032613
705 G>V No ClinGen
gnomAD
CA403516968
rs1340279963
706 P>L No ClinGen
gnomAD
CA304606157
rs1053912542
707 E>D No ClinGen
TOPMed
gnomAD
rs370338775
CA9110098
709 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1420442830
CA403516932
710 P>S No ClinGen
gnomAD
rs765642813
CA9110096
711 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA403516908
rs1367694603
713 V>I No ClinGen
gnomAD
rs776822913
CA9110094
714 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA403516897
rs769069932
714 R>H No ClinGen
ExAC
gnomAD
rs769069932
CA9110093
714 R>P No ClinGen
ExAC
gnomAD
rs775268583
CA9110091
716 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA403516886
rs1488356054
716 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA403516876
rs1447785084
717 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA304606156
rs971664522
718 D>G No ClinGen
TOPMed
CA403516687
rs1374310303
722 A>T No ClinGen
TOPMed
rs1393421847
CA403516685
722 A>V No ClinGen
TOPMed
CA403516655
rs1360054733
727 V>A No ClinGen
gnomAD
rs960841066
CA304605909
727 V>M No ClinGen
TOPMed
TCGA novel 728 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1364091998
CA403516639
729 A>G No ClinGen
TOPMed
gnomAD
rs1599535237
CA403516644
729 A>T No ClinGen
Ensembl
CA403516641
rs1364091998
729 A>V No ClinGen
TOPMed
gnomAD
rs1599535159
CA403516634
730 E>G No ClinGen
Ensembl
rs1273151991
CA403516625
731 A>V No ClinGen
TOPMed
gnomAD
rs1328222592
CA403516607
734 A>D No ClinGen
TOPMed
gnomAD
TCGA novel 735 T>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1035485750
CA304605908
736 A>S No ClinGen
TOPMed
rs1164098327
CA403516584
738 R>C No ClinGen
TOPMed
gnomAD
rs1254439512
CA403516583
738 R>H No ClinGen
TOPMed
CA304605907
rs1004888859
745 A>T No ClinGen
TOPMed
gnomAD
rs1064295
CA304605906
745 A>V No ClinGen
gnomAD
TCGA novel 746 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1195141314
CA403516529
747 G>D No ClinGen
gnomAD
rs1246891588
CA403516531
747 G>S No ClinGen
TOPMed
gnomAD
rs1237963337
CA403516524
748 R>L No ClinGen
gnomAD
rs1399739848
CA403516525
748 R>W No ClinGen
TOPMed
CA403516507
rs1309771135
750 H>Q No ClinGen
TOPMed
gnomAD
rs769766853
CA9110063
752 Q>E No ClinGen
ExAC
gnomAD
rs1384894908
CA403516493
752 Q>H No ClinGen
TOPMed
rs1477293906
CA403516495
752 Q>L No ClinGen
gnomAD
CA403516488
rs1384706276
753 I>T No ClinGen
Ensembl
rs1307585641
CA403516461
757 Q>R No ClinGen
TOPMed
rs1305842029
CA403516449
759 H>Y No ClinGen
gnomAD
rs1027605608
CA304605904
760 Y>F No ClinGen
TOPMed
rs1038862962
CA304605901
762 R>C No ClinGen
TOPMed
gnomAD
rs1374294763
CA403516429
762 R>H No ClinGen
TOPMed
gnomAD
TCGA novel 762 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA304605902
rs1038862962
762 R>S No ClinGen
TOPMed
gnomAD
rs1442731364
CA403516424
763 M>L No ClinGen
TOPMed
gnomAD
rs1442731364
CA403516425
763 M>V No ClinGen
TOPMed
gnomAD
CA403516405
rs1356179565
765 G>A No ClinGen
TOPMed
gnomAD
rs780989941
CA9110061
766 A>T No ClinGen
ExAC
gnomAD
rs1174099281
CA403516386
768 A>G No ClinGen
TOPMed
rs1175059175
CA403516389
768 A>P No ClinGen
gnomAD
rs1437431875
CA403516382
769 R>C No ClinGen
TOPMed
gnomAD
CA9110060
rs542345642
771 P>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1053239616
CA304605898
771 P>S No ClinGen
TOPMed
gnomAD
rs1481847293
CA403516363
772 P>L No ClinGen
gnomAD
CA403516364
rs1481847293
772 P>Q No ClinGen
gnomAD
rs1259120475
CA403516359
773 R>H No ClinGen
gnomAD
rs746107616
CA9110059
777 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1298629875
CA403516321
778 M>I No ClinGen
TOPMed
rs1599533520
CA403516309
780 A>V No ClinGen
Ensembl
rs1303613614
CA403516308
781 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs898869635
CA304605873
784 W>R No ClinGen
Ensembl
CA9110023
rs761681941
786 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA403516254
rs761681941
786 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA403516244
rs1390648362
788 D>H No ClinGen
gnomAD
CA304605872
rs1015963134
789 T>M No ClinGen
Ensembl
CA403516225
rs1417612381
791 E>K No ClinGen
Ensembl
rs181439211
CA9110015
792 Y>H No ClinGen
1000Genomes
ExAC
gnomAD
rs765509959
CA9109972
793 E>Q No ClinGen
ExAC
gnomAD
CA403515889
rs1302269744
795 V>A No ClinGen
TOPMed
rs1231581355
CA403515893
795 V>I No ClinGen
TOPMed
CA403515876
rs1313547507
797 T>R No ClinGen
gnomAD
CA9109971
rs369508635
798 N>D No ClinGen
ESP
ExAC
gnomAD
CA403515851
rs1469389508
801 P>A No ClinGen
gnomAD
CA9109968
rs747172851
802 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs202087387
CA403515833
804 A>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9109967
rs202087387
804 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9109966
rs772609224
804 A>V No ClinGen
ExAC
gnomAD
CA403515826
rs1599496062
805 Y>S No ClinGen
Ensembl
CA9109963
rs756860719
807 I>L No ClinGen
ExAC
gnomAD
rs756860719
CA9109964
807 I>V No ClinGen
ExAC
gnomAD
CA9109962
rs748896771
808 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs748896771
CA304605334
808 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA9109960
rs755562182
810 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA403515795
rs1340374850
811 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1338543715
CA403515771
814 M>T No ClinGen
gnomAD
rs755012048
CA9109957
815 K>R No ClinGen
ExAC
gnomAD
rs1159864455
CA403515662
817 D>N No ClinGen
TOPMed
CA9109955
rs751437578
819 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA304605333
rs1023625190
820 R>C No ClinGen
TOPMed
gnomAD
CA403515642
rs1023625190
820 R>G No ClinGen
TOPMed
gnomAD
rs1012604149
CA304605332
820 R>H No ClinGen
TOPMed
gnomAD
CA403515627
rs1475868980
822 K>R No ClinGen
gnomAD
rs776708266
CA9109953
826 V>I No ClinGen
ExAC
gnomAD
TCGA novel 830 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9109952
rs764444823
830 G>R No ClinGen
ExAC
gnomAD
CA9109951
rs538765384
831 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1015526594
CA304605330
831 A>V No ClinGen
TOPMed
gnomAD
rs1205852773
CA403515290
834 G>S No ClinGen
gnomAD
rs141070507
CA9109923
835 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9109922
rs746587534
835 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1169291996
CA403515265
837 T>I No ClinGen
TOPMed
rs201908599
CA9109921
838 L>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA403515247
rs758410040
839 S>* No ClinGen
ExAC
TOPMed
gnomAD
rs758410040
CA9109920
839 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA403515228
rs1449294721
841 Q>* No ClinGen
TOPMed
rs1305092282
CA403515197
843 T>N No ClinGen
TOPMed
rs752927950
CA9109916
844 P>S No ClinGen
ExAC
gnomAD
rs1433614221
CA403515179
845 E>A No ClinGen
gnomAD
rs759604875
CA403515183
845 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs759604875
CA9109914
845 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA403515165
rs1375643869
846 G>D No ClinGen
gnomAD
rs766771400
CA9109912
849 L>Q No ClinGen
ExAC
gnomAD
CA403515118
rs1407721470
850 A>V No ClinGen
gnomAD
rs763535247
CA9109911
851 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs199604489
CA9109910
851 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9109909
RCV000754561
RCV002263956
rs199604489
851 R>L No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs115276698
CA304604938
853 E>A No ClinGen
1000Genomes
TOPMed
gnomAD
CA304604937
rs961564035
853 E>D No ClinGen
TOPMed
gnomAD
CA403515089
rs1239019907
853 E>K No ClinGen
TOPMed
CA403515071
rs1263196047
854 P>L No ClinGen
TOPMed
CA403515076
rs776422958
854 P>S No ClinGen
ExAC
gnomAD
CA9109907
rs776422958
854 P>T No ClinGen
ExAC
gnomAD
CA403515058
rs1214736605
855 P>L No ClinGen
gnomAD
CA403515060
rs1214736605
855 P>R No ClinGen
gnomAD
rs1173800965
CA403515035
858 T>A No ClinGen
TOPMed
rs1173800965
CA403515037
858 T>P No ClinGen
TOPMed
CA403515025
rs1224185745
859 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA9109904
rs200677865
859 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1167581020
CA403514994
861 D>A No ClinGen
Ensembl
CA403515001
rs1413585604
861 D>N No ClinGen
gnomAD
rs1314259486
CA403514984
862 Q>E No ClinGen
gnomAD
rs1451171996
CA403514968
863 V>A No ClinGen
gnomAD
TCGA novel 865 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA403514961
rs1160265804
865 G>S No ClinGen
TOPMed
gnomAD
CA9109900
rs371360214
867 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA403514945
rs1416280955
867 R>H No ClinGen
TOPMed
gnomAD
CA9109898
rs781357409
869 Q>* No ClinGen
ExAC
gnomAD
CA304604932
rs1028115213
869 Q>P No ClinGen
TOPMed
CA9109897
rs151114416
872 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9109895
rs374591804
872 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374591804
CA9109896
872 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA403514895
rs1488973838
873 E>A No ClinGen
TOPMed
CA9109893
rs750931777
874 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1478125902
CA403514869
875 S>W No ClinGen
TOPMed
CA9109891
rs372181642
876 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA403514849
rs1294580214
877 P>L No ClinGen
gnomAD
CA9109889
rs763791689
877 P>S No ClinGen
ExAC
gnomAD
CA403514853
rs763791689
877 P>T No ClinGen
ExAC
gnomAD
rs1428091133
CA403514840
878 L>P No ClinGen
gnomAD
rs760436118
CA9109888
878 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1332317323
CA403514820
880 T>N No ClinGen
TOPMed
gnomAD
rs771623625
CA9109886
881 L>V No ClinGen
ExAC
gnomAD
CA403514804
rs1568407818
882 E>* No ClinGen
Ensembl
rs1322918895
CA403514792
883 F>L No ClinGen
TOPMed
CA9109885
rs745426688
884 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA403514775
rs1164749059
884 P>S No ClinGen
TOPMed
gnomAD
CA9109884
rs774339890
885 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1168390637
CA403514769
885 P>T No ClinGen
gnomAD
CA304604928
rs1007529586
887 E>K No ClinGen
TOPMed
gnomAD
CA9109881
rs148744813
889 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9109880
rs148744813
889 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs747248153
CA9109879
889 R>H No ClinGen
ExAC
gnomAD
rs780201997
CA9109878
890 Y>H No ClinGen
ExAC
gnomAD
CA9109877
rs375155482
891 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765752538
CA9109875
892 A>T No ClinGen
ExAC
gnomAD
CA9109874
rs757862631
892 A>V No ClinGen
ExAC
gnomAD
CA304604926
rs748343733
893 S>L No ClinGen
gnomAD
TCGA novel 894 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754216245
CA9109873
894 G>V No ClinGen
ExAC
gnomAD
CA9109872
rs764560600
895 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs539486011
CA403514642
896 H>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9109871
rs550128751
896 H>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA403514631
rs1296988917
897 K>R No ClinGen
gnomAD
rs1568407380
CA403514623
898 G>R No ClinGen
Ensembl
rs370681168
CA9109868
899 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs909751365
CA304604925
899 A>V No ClinGen
TOPMed
CA9109867
rs773778652
900 T>M No ClinGen
ExAC
gnomAD
rs1192744560
CA403514573
902 V>E No ClinGen
TOPMed
gnomAD
CA9109865
rs377203716
904 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1269321557
CA403514555
904 R>W No ClinGen
TOPMed
gnomAD
CA403514547
rs1479985617
905 L>F No ClinGen
TOPMed
gnomAD
CA403514532
rs1251374260
906 A>V No ClinGen
gnomAD
CA403514521
rs200860780
907 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200860780
CA9109863
907 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1020631416
CA304604923
908 R>Q No ClinGen
TOPMed
rs370397015
CA9109862
908 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA403514493
rs1369452734
910 R>C No ClinGen
gnomAD
CA403514491
rs1305417503
910 R>H Variant assessed as Somatic; 7.506e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA9109858
rs374643204
911 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs906063149
CA304604921
912 G>S No ClinGen
TOPMed
gnomAD
CA304604920
rs1014303618
913 L>P No ClinGen
TOPMed
gnomAD
CA304604919
rs1014303618
913 L>R No ClinGen
TOPMed
gnomAD
CA403514466
rs1354306749
913 L>V No ClinGen
gnomAD
rs1379163672
CA403514451
915 E>K No ClinGen
TOPMed
gnomAD
rs527272427
CA304604918
916 E>A No ClinGen
1000Genomes
TOPMed
gnomAD
rs1394120193
CA403514431
916 E>K No ClinGen
TOPMed
CA403514426
rs527272427
916 E>V No ClinGen
1000Genomes
TOPMed
gnomAD
rs1037036904
CA304604917
917 A>V No ClinGen
TOPMed
CA403514407
rs1316753061
918 A>D No ClinGen
TOPMed
rs1251215196
CA403514398
919 E>A No ClinGen
gnomAD
TCGA novel 919 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs909875098
CA304604916
922 S>G No ClinGen
TOPMed
CA403514353
rs1211174007
924 P>A No ClinGen
gnomAD
rs370088739
CA9109854
924 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs956514858
CA403514323
926 D>E No ClinGen
TOPMed
CA9109852
rs767176479
926 D>Y No ClinGen
ExAC
gnomAD
CA304604912
rs759129843
927 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA9109851
rs759129843
927 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA304604913
rs1030703866
927 T>S No ClinGen
Ensembl
CA403514304
rs1478220397
928 P>L No ClinGen
TOPMed
CA9109850
rs61729778
929 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA403514297
rs1313647555
929 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA403514296
rs1313647555
929 R>P No ClinGen
TOPMed
gnomAD
rs1416848107
CA403514294
930 G>S No ClinGen
gnomAD
rs1402658601
CA403514279
931 H>P No ClinGen
TOPMed
CA403514277
rs1202103155
931 H>Q No ClinGen
gnomAD
rs1599468025
CA403514281
931 H>Y No ClinGen
Ensembl
rs1156567371
CA403514270
932 P>L No ClinGen
gnomAD
rs1156567371
CA403514266
932 P>R No ClinGen
gnomAD
rs1364268470
CA403514256
933 Q>H No ClinGen
gnomAD
rs1161310685
CA403514244
934 I>S No ClinGen
gnomAD
CA304604909
rs1064296
935 L>V No ClinGen
TOPMed
gnomAD
CA9109848
rs762510209
937 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA403514215
rs1443767326
938 A>T No ClinGen
gnomAD
CA304604906
rs182769562
940 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201435229
CA9109844
941 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs772298342
CA9109843
941 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA403514190
rs1293966082
942 S>L No ClinGen
gnomAD
CA403514192
rs1285984808
942 S>P No ClinGen
TOPMed
rs1014796224
CA304604905
944 G>R No ClinGen
TOPMed
gnomAD
rs895982467
CA304604904
945 T>A No ClinGen
TOPMed
gnomAD
rs1385418553
CA403514173
945 T>I No ClinGen
TOPMed
gnomAD
CA403514175
rs895982467
945 T>S No ClinGen
TOPMed
gnomAD
rs1385418553
CA403514174
945 T>S No ClinGen
TOPMed
gnomAD
CA9109838
rs778392508
946 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA9109835
rs781437725
949 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA403514151
rs1370939047
949 R>H No ClinGen
gnomAD
CA403514131
rs1420265669
952 P>R No ClinGen
TOPMed
rs749987801
CA9109830
954 V>L No ClinGen
ExAC
gnomAD
rs749987801
CA9109831
954 V>M No ClinGen
ExAC
gnomAD
rs1048404327
CA304604902
955 P>L No ClinGen
TOPMed
gnomAD
rs1385812531
CA403514117
955 P>S No ClinGen
TOPMed
CA403514111
rs1337555183
956 A>G No ClinGen
gnomAD
rs564427160
CA9109828
956 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs768350891
CA403514109
957 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs768350891
CA9109826
957 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA9109825
rs760578565
958 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs374990235
CA9109824
958 R>H No ClinGen
ESP
ExAC
gnomAD
CA9109822
rs749356058
960 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA9109820
rs770291253
962 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA9109819
rs62113240
963 V>I No ClinGen
ExAC
gnomAD
CA403514067
rs1379482387
964 K>E No ClinGen
TOPMed
CA403514062
rs1440176761
964 K>N No ClinGen
TOPMed
CA304604899
rs915133073
966 T>M No ClinGen
TOPMed
rs747443047
CA9109816
968 A>V No ClinGen
ExAC
gnomAD
rs758072738
CA9109814
969 V>M No ClinGen
ExAC
gnomAD
rs764731638
CA9109812
970 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA9109813
rs369041852
970 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA403514015
rs1272370030
972 A>V No ClinGen
gnomAD
rs372440262
CA9109810
973 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA403514009
rs912026736
974 A>P No ClinGen
TOPMed
gnomAD
rs912026736
CA304604896
974 A>T No ClinGen
TOPMed
gnomAD
rs1369997087
CA403514005
974 A>V No ClinGen
gnomAD
CA304604895
rs986697718
976 G>V No ClinGen
TOPMed
gnomAD
CA403513994
rs1410080119
977 P>T No ClinGen
gnomAD
rs1171385518
CA403513983
978 A>V No ClinGen
gnomAD
CA403513982
rs1028304582
979 R>* No ClinGen
TOPMed
gnomAD
CA304604894
rs1028304582
979 R>G No ClinGen
TOPMed
gnomAD
CA403513981
rs1193352037
979 R>Q No ClinGen
gnomAD
CA403513966
rs1484090676
981 T>I No ClinGen
TOPMed
gnomAD
rs773355226
CA9109804
981 T>S No ClinGen
ExAC
gnomAD
CA403513967
rs1484090676
981 T>S No ClinGen
TOPMed
gnomAD
rs776974729
CA9109801
984 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1348958046
CA403513952
984 P>T No ClinGen
gnomAD
rs747329678
CA9109799
985 A>G No ClinGen
ExAC
gnomAD
rs747329678
CA403513943
985 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs368886554
CA9109797
986 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA304604893
rs868294368
987 A>S No ClinGen
gnomAD
rs756719219
CA9109794
989 P>L No ClinGen
ExAC
gnomAD
rs1359440247
CA403513922
989 P>S No ClinGen
gnomAD
rs201357930
CA9109791
991 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9109790
rs2230610
991 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs368236845
CA9109787
992 E>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368236845
CA304604892
992 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9109784
rs201423065
994 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9109783
rs370623380
994 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA403513889
rs1228933665
995 L>F No ClinGen
gnomAD
VAR_035649
rs775778266
CA9109781
996 T>M a colorectal cancer sample; somatic mutation [UniProt] No ClinGen
UniProt
ExAC
TOPMed
dbSNP
gnomAD
CA403513873
rs1379393228
998 Q>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs746300376
CA9109779
998 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA304604890
rs936424649
999 G>S No ClinGen
TOPMed
CA403513852
rs1416406546
1001 K>N No ClinGen
gnomAD
rs770663085
CA9109777
1002 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA403513840
rs752695186
1003 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA9109774
rs756049037
1003 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs781335825
CA9109772
1004 T>A No ClinGen
ExAC
gnomAD
rs754813198
CA9109771
1004 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs762127352
CA9109768
1005 A>S No ClinGen
ExAC
gnomAD
CA9109767
rs753793633
1005 A>V No ClinGen
ExAC
gnomAD
rs1174340046
CA403513828
1006 Y>H No ClinGen
TOPMed
TCGA novel 1007 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9109763
rs772609297
1007 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs943824465
CA304604888
1009 Q>* No ClinGen
TOPMed
gnomAD
rs943824465
CA304604889
1009 Q>K No ClinGen
TOPMed
gnomAD
rs1360908131
CA403513801
1010 V>L No ClinGen
gnomAD
CA9109760
rs770446171
1011 R>* No ClinGen
ExAC
gnomAD
rs1392874652
CA403513796
1011 R>Q No ClinGen
TOPMed
gnomAD
rs777089062
CA9109758
1012 A>V No ClinGen
ExAC
gnomAD
rs1428131078
CA403513779
1014 T>A No ClinGen
gnomAD
CA403513775
rs1391073074
1014 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA9109754
rs199829286
1015 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9109753
rs751272492
1015 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA304604886
rs751272492
1015 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA403513770
rs374799314
1016 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA9109751
rs374799314
1016 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA9109752
rs779903263
1016 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA403513750
rs1306524101
1020 P>T No ClinGen
TOPMed
gnomAD
rs1231013843
CA403513735
1022 S>G No ClinGen
gnomAD
rs752821383
CA9109747
1023 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA403513726
rs1303233646
1023 P>L No ClinGen
gnomAD
CA403513727
rs1303233646
1023 P>R No ClinGen
gnomAD
rs752821383
CA9109748
1023 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs752821383
CA9109749
1023 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs202163446
CA9109745
1024 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs772912033
CA9109742
1024 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs772912033
CA9109743
1024 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs772912033
CA9109741
1024 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA9109744
rs202163446
1024 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs202163446
CA9109746
1024 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs374875451
CA9109737
1025 V>F No ClinGen
ESP
ExAC
TOPMed
rs374875451
CA9109736
1025 V>I No ClinGen
ESP
ExAC
TOPMed
rs756013055 1025 V>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs756013055 1025 V>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs746980740
CA9109733
1026 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9109732
rs779918003
1026 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA9109730
rs745694014
1027 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA9109728
rs769764410
1028 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA9109727
rs752731468
1028 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs769764410
CA9109729
1028 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA9109726
rs767586201
1029 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA403513688
rs1206861930
1031 L>P No ClinGen
TOPMed
gnomAD
CA304604883
rs766862256
1032 R>G No ClinGen
ExAC
TOPMed
gnomAD
RCV000912129
rs370399999
CA9109722
1032 R>Q No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA9109723
rs766862256
1032 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA403513678
rs1351187602
1033 D>E No ClinGen
gnomAD
rs773496700
CA9109721
1033 D>N No ClinGen
ExAC
gnomAD
rs372067337
CA9109678
1036 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1270501015
CA403513642
1037 P>R No ClinGen
Ensembl
CA9109676
rs759102109
1039 N>S No ClinGen
ExAC
gnomAD
CA403513611
rs1174993660
1041 K>M No ClinGen
gnomAD
CA9109675
rs774267588
1042 V>M No ClinGen
ExAC
gnomAD
rs1211765615
CA403513602
1043 K>E No ClinGen
gnomAD
rs1454313241
CA403513589
1044 M>I No ClinGen
gnomAD
CA403513591
rs1329534234
1044 M>T No ClinGen
TOPMed
rs1337663643
CA403513585
1045 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs770895185
CA9109674
1049 S>A No ClinGen
ExAC
TOPMed
gnomAD
CA403513544
rs146080105
1051 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA403513516
rs1219786363
1055 E>K No ClinGen
Ensembl
CA9109672
rs772903486
1056 F>V No ClinGen
ExAC
gnomAD
rs768857484
CA9109671
1057 P>S No ClinGen
ExAC
gnomAD
rs747212154
CA403513490
1058 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1599455730
CA403513497
1058 D>N No ClinGen
Ensembl
CA9109669
rs780382156
1059 N>K No ClinGen
ExAC
gnomAD
rs1393807141
CA403513479
1060 Y>S No ClinGen
TOPMed
gnomAD
rs1195525448
CA403513450
1064 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA304604789
rs966517708
1064 T>P No ClinGen
gnomAD
CA9109666
rs141765312
1065 P>A No ClinGen
ESP
ExAC
gnomAD
CA9109665
rs779544389
1065 P>L No ClinGen
ExAC
gnomAD
TCGA novel 1067 K>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9109631
rs757962488
1069 Q>* No ClinGen
ExAC
gnomAD
CA403513405
rs1475035175
1069 Q>R No ClinGen
TOPMed
CA9109629
rs138649939
1073 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs776516569
CA9109627
1075 L>M No ClinGen
ExAC
gnomAD
rs1212037871
CA403513352
1077 V>A No ClinGen
gnomAD
rs767809989
CA9109626
1079 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA9109624
rs774511967
1080 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs771119355
CA9109623
1080 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs771119355
CA403513334
1080 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1316669370
CA403513328
1081 T>I No ClinGen
TOPMed
CA304604683
rs959828503
1082 T>I No ClinGen
TOPMed
CA403513317
rs1300507338
1083 K>M No ClinGen
TOPMed
CA403513306
rs1379503828
1085 L>F No ClinGen
gnomAD
CA9109620
rs200191658
1087 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA403513230
rs1203670272
1096 N>D No ClinGen
TOPMed
CA9109617
rs202061843
1096 N>S No ClinGen
ExAC
gnomAD
rs3202678
CA304604679
1097 F>L No ClinGen
Ensembl
CA403513200
rs1164236147
1101 N>D No ClinGen
gnomAD
rs377654164
CA9109615
1101 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9109614
rs575201235
1102 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs765040102
CA9109612
1103 G>S No ClinGen
ExAC
gnomAD
rs1209147609
CA403513171
1105 S>N No ClinGen
TOPMed
CA403513169
rs1249771341
1105 S>R No ClinGen
TOPMed
CA304604677
rs544466481
1108 G>S No ClinGen
gnomAD
CA9109608
rs201447856
1112 T>M Variant assessed as Somatic; 0.0003238 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs769925793
CA9109605
RCV000754560
1115 A>T No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA403513094
rs1458048934
1117 T>S No ClinGen
TOPMed
CA403513082
rs1341900869
1119 F>S No ClinGen
TOPMed
gnomAD
rs372506721
CA403513074
1120 N>I No ClinGen
ExAC
TOPMed
gnomAD
rs372506721
CA9109603
1120 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs372506721
CA403513075
1120 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs748360435
CA304604676
1121 L>V No ClinGen
ExAC
TOPMed
CA9109600
rs769004088
1123 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA304604675
rs868694931
1124 G>D No ClinGen
Ensembl
rs779660659
CA9109598
1124 G>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1127 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs371881792
CA9109595
1128 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371881792
CA9109594
1128 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs199805837
CA9109592
1129 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA403513017
rs1209240784
1130 P>S No ClinGen
TOPMed
CA403512980
rs752585208
1135 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs755938901
CA9109591
1135 D>H No ClinGen
ExAC
gnomAD
rs755938901
CA403512984
1135 D>Y No ClinGen
ExAC
gnomAD
CA304604674
rs924348462
1136 G>D No ClinGen
TOPMed
gnomAD
CA9109589
rs140049694
1136 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA304604672
rs914037320
1139 M>T No ClinGen
TOPMed
rs1231130806
CA403512958
1139 M>V No ClinGen
gnomAD
rs866466115
CA304604671
1145 G>D No ClinGen
TOPMed
gnomAD
rs765371680
CA9109587
1145 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs765371680
CA9109586
1145 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1306330316
CA403512913
1146 Q>E No ClinGen
gnomAD
rs1461372872
CA403512908
1146 Q>H No ClinGen
TOPMed
TCGA novel 1147 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9109585
rs761866681
1148 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA9109582
rs760980604
1149 V>A No ClinGen
ExAC
gnomAD
CA9109583
rs147801733
1149 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 1152 Q>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772064790
CA304604670
1152 Q>R No ClinGen
gnomAD
CA9109549
rs781048317
1156 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1286194006
CA403512814
1158 M>I No ClinGen
TOPMed
rs754772522
CA9109548
1162 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs746829913
CA403512791
1162 R>H No ClinGen
ExAC
gnomAD
rs746829913
CA9109547
1162 R>L No ClinGen
ExAC
gnomAD
CA304604581
rs910146505
1164 S>P No ClinGen
TOPMed
rs1034131598
CA403512773
1165 R>H No ClinGen
TOPMed
gnomAD
rs1034131598
CA304604580
1165 R>P No ClinGen
TOPMed
gnomAD
CA403512771
rs1326503987
1166 G>R No ClinGen
gnomAD
CA403512760
rs1465789831
1167 G>D No ClinGen
gnomAD
rs1263912912
CA403512755
1168 Q>R No ClinGen
gnomAD
CA9109546
rs779149362
CA403512745
1169 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA9109543
rs764176169
1172 P>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1174 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA403512723
rs753240051
1174 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs753240051
CA9109541
1174 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA403512690
rs1384602128
1178 D>E No ClinGen
gnomAD
rs774597513
CA9109538
1178 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1461228258
CA403512683
1179 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1389490950
CA403512689
1179 M>L No ClinGen
TOPMed
gnomAD
CA403512685
rs1163896977
1179 M>T No ClinGen
TOPMed
rs1389490950
CA403512688
1179 M>V No ClinGen
TOPMed
gnomAD
CA403512672
rs762696876
1181 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA403512670
rs1388692315
1181 L>P No ClinGen
gnomAD
CA9109536
rs762696876
1181 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1168400719
CA403512659
1183 E>Q No ClinGen
gnomAD
CA9109508
rs760546803
1185 I>L No ClinGen
ExAC
rs1342415870
CA403512616
1187 D>G No ClinGen
TOPMed
CA304604575
rs771853690
1190 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs771853690
CA9109506
1190 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1599436263
CA403512598
1190 R>W No ClinGen
Ensembl
rs376266471
CA9109504
1192 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA403512575
rs1269111261
1194 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA9109503
rs115469963
1194 R>H Variant assessed as Somatic; 0.0006238 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1471312670
CA403512557
1197 R>Q No ClinGen
gnomAD
CA9109501
rs781134304
1197 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA9109500
rs755452432
1199 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA403512540
rs1390942862
1200 R>C No ClinGen
TOPMed
rs781371580
CA9109497
1200 R>H No ClinGen
ExAC
gnomAD
CA403512535
rs1204949982
1201 Q>* No ClinGen
gnomAD
rs1440713936
CA403512531
1201 Q>H No ClinGen
TOPMed
gnomAD
CA304604573
rs957224661
1203 E>K No ClinGen
TOPMed
gnomAD
CA403512513
rs1377303300
1204 V>G No ClinGen
TOPMed
CA9109496
rs750841016
1204 V>M No ClinGen
ExAC
gnomAD
rs142918634
CA403512504
1206 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA403512505
rs142918634
1206 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9109494
rs142918634
1206 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs764944959
CA9109495
1206 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs760302776
CA9109491
1209 I>V No ClinGen
ExAC
gnomAD
rs542361035
CA9109489
1212 R>C Variant assessed as Somatic; 9.258e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9109488
rs375875548
1212 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs542361035
CA304604571
1212 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs769934024
CA9109486
1215 V>G No ClinGen
ExAC
gnomAD
CA9109487
rs774159488
1215 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA304604569
rs918842746
1217 P>L No ClinGen
Ensembl
rs1265450607
CA403512429
1219 T>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs114904537
CA304604568
1221 H>N No ClinGen
1000Genomes
CA9109484
rs372619078
1222 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9109483
rs768612717
1222 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA9109480
rs145842090
1224 D>N No ClinGen
ESP
ExAC
gnomAD
rs779435853
CA403512389
1225 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs746169857
CA9109479
1225 Q>R No ClinGen
ExAC
gnomAD
TCGA novel 1226 K>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757700265
CA403512376
1227 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs757700265
CA9109477
1227 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA403512372
rs1176871419
1228 Y>N No ClinGen
TOPMed
rs1433499108
CA403512356
1230 G>D No ClinGen
gnomAD
CA9109475
rs202004674
1230 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA403512345
rs752222706
1232 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA9109473
rs752222706
1232 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs767400237
CA403512329
1234 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA9109472
rs767400237
1234 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA304604567
rs866165812
1234 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA9109471
rs759472181
1235 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs759472181
CA403512323
1235 G>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1236 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9109470
rs200307602
1237 E>D No ClinGen
1000Genomes
ExAC
gnomAD
CA9109468
rs369971329
1239 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201990407
CA9109466
1241 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs202091186
CA9109465
1241 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1220355220
CA403512217
1247 L>F No ClinGen
gnomAD
rs116545788
CA9109461
1249 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs757534258
CA304604565
1251 Q>L No ClinGen
ExAC
TOPMed
gnomAD
rs757534258
CA9109460
1251 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1296936066
CA403512162
1252 K>E No ClinGen
gnomAD
CA9109459
rs749715659
1253 S>G No ClinGen
ExAC
gnomAD
rs777238128
CA9109458
1253 S>N No ClinGen
ExAC
gnomAD
rs61743105
CA9109457
1253 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1405757941
CA403512135
1254 E>K No ClinGen
TOPMed
gnomAD
CA9109454
rs139608745
1255 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs139608745
CA9109455
1255 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA403510979
rs1599430116
1256 T>P No ClinGen
Ensembl
CA403510911
rs1156383212
1259 A>V No ClinGen
gnomAD
CA403510903
rs1452566818
1260 S>N No ClinGen
gnomAD
rs763526954
CA9109423
1261 P>A No ClinGen
ExAC
gnomAD
CA403510886
rs1161671874
1261 P>H No ClinGen
TOPMed
gnomAD
rs1239728663
CA403510840
1264 D>E No ClinGen
TOPMed
CA304604505
rs867337946
1265 P>L No ClinGen
Ensembl
rs1422453480
CA403510808
1267 Q>* No ClinGen
gnomAD
rs748550727
CA9109420
1269 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1221129890
CA403510774
1269 D>G No ClinGen
TOPMed
rs761904835
CA304604502
1269 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA9109421
rs761904835
1269 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA403510732
rs1351608223
1271 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1204660130
CA403510739
1271 P>S No ClinGen
gnomAD
CA304604500
rs776652526
1274 Q>H No ClinGen
Ensembl
CA403510659
rs768318893
1276 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs146012732
CA9109417
1277 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146012732
CA9109416
1277 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs750373156
CA9109414
1280 E>D No ClinGen
ExAC
gnomAD
rs757905971
CA9109415
1280 E>K No ClinGen
ExAC
gnomAD
rs1035903725
CA304604498
1282 G>E No ClinGen
Ensembl
rs1385155560
CA403510489
1288 G>R No ClinGen
gnomAD
rs1003437214
CA304604496
1291 L>V No ClinGen
gnomAD
CA9109406
rs763007823
1293 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs773740248
CA9109405
1295 F>C No ClinGen
ExAC
rs1446928503
CA403510384
1296 I>V No ClinGen
gnomAD
rs762117575
CA9109403
1298 C>G No ClinGen
ExAC
TOPMed
gnomAD
rs762117575
CA403510354
1298 C>S No ClinGen
ExAC
TOPMed
gnomAD
CA304604494
rs1011549015
1299 I>L No ClinGen
Ensembl
rs1330761136
CA403510338
1299 I>T No ClinGen
TOPMed
rs376345440
CA304604492
1301 I>T No ClinGen
TOPMed
gnomAD
rs1312373726
CA403510292
1302 A>T No ClinGen
gnomAD
rs149250405
CA9109402
1303 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA403510248
rs1246481445
1305 L>F No ClinGen
gnomAD
rs773998457
CA9109373
1310 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA403510029
rs370343222
1311 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370343222
CA9109370
1311 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA403510027
rs370343222
1311 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9109368
rs747944058
1312 S>G No ClinGen
ExAC
gnomAD
rs780275846
CA9109367
1312 S>N No ClinGen
ExAC
gnomAD
CA9109340
rs374745287
1314 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767763908
CA9109339
1314 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs760047878
CA9109338
1315 K>R No ClinGen
ExAC
gnomAD
CA9109336
rs766184946
1318 E>D No ClinGen
ExAC
gnomAD
rs751229657
CA9109337
1318 E>K No ClinGen
ExAC
gnomAD
rs762505033
CA9109335
1319 P>L No ClinGen
ExAC
gnomAD
rs762505033
CA403509879
1319 P>R No ClinGen
ExAC
gnomAD
rs1052009018
CA304604412
1319 P>S No ClinGen
TOPMed
gnomAD
CA9109334
rs772880114
1320 R>C No ClinGen
ExAC
gnomAD
CA304604411
rs936142250
1320 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs145751069
CA9109333
1323 C>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA403509852
rs1239121684
1324 L>V No ClinGen
TOPMed
CA403509846
rs1310899689
1325 L>V No ClinGen
TOPMed
rs370332631
CA9109331
1329 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9109329
rs779055431
1331 A>G No ClinGen
ExAC
gnomAD
rs1361339357
CA403509807
1331 A>T No ClinGen
TOPMed
gnomAD
CA9109328
rs779055431
1331 A>V No ClinGen
ExAC
gnomAD
CA304604410
rs367722276
1333 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
CA9109327
rs771170964
1334 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs749295712
CA9109326
1335 P>T No ClinGen
ExAC
gnomAD
rs1423783416
CA403509756
1339 V>M No ClinGen
gnomAD
CA403509747
rs1366044529
1340 E>A No ClinGen
gnomAD
rs1568388126
CA403509744
1340 E>D No ClinGen
Ensembl
rs777724238
CA9109325
1341 M>I No ClinGen
ExAC
gnomAD
rs374679831
CA9109324
1342 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9109323
rs753143589
1343 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs753143589
CA403509727
1343 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA9109321
rs201934952
1343 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs201934952
CA9109322
1343 R>L No ClinGen
1000Genomes
ExAC
gnomAD
CA403509724
rs1476169496
1344 I>V No ClinGen
gnomAD
rs1266362648
CA403509710
1346 F>L No ClinGen
gnomAD
CA304604182
rs908259585
1351 S>A No ClinGen
Ensembl
rs1403235094
CA403508976
1352 G>D No ClinGen
TOPMed
gnomAD
CA403508952
rs1440592448
1354 R>G No ClinGen
TOPMed
rs764987592
CA9109295
1355 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs764987592
CA304604181
1355 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1469959251
CA403508916
1357 L>F No ClinGen
gnomAD
TCGA novel 1357 L>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs865957699
CA304604180
1358 R>G No ClinGen
Ensembl
CA9109293
rs753417682
1360 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA304604179
rs753417682
1360 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA403508847
rs866147610
1361 G>E No ClinGen
gnomAD
CA304604177
rs866147610
1361 G>V No ClinGen
gnomAD
rs1460411052
CA403508831
1362 F>L No ClinGen
gnomAD
CA403508790
rs1162516954
1364 F>L No ClinGen
TOPMed
rs199585880
CA9109291
1364 F>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9109290
rs775461256
1365 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs955550206
CA304604176
1365 E>D No ClinGen
TOPMed
rs1265626893
CA403508451
1367 M>I No ClinGen
gnomAD
CA403508437
rs1285393473
1368 L>F No ClinGen
TOPMed
CA304603999
rs1021700507
1369 S>R No ClinGen
gnomAD
rs893878528
CA304603997
1370 H>P No ClinGen
Ensembl
CA304603998
rs909186181
1370 H>Y No ClinGen
TOPMed
CA9109258
rs760885887
1371 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9109255
rs772736665
1372 P>L No ClinGen
ExAC
gnomAD
CA304603996
rs751670759
1373 I>T No ClinGen
Ensembl
CA403508341
rs1210337335
1373 I>V No ClinGen
gnomAD
CA403508311
rs1358436135
1375 I>V No ClinGen
gnomAD
CA403508298
rs200850387
1376 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9109254
rs200850387
1376 A>T Variant assessed as Somatic; 9.293e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA403508294
rs1226089200
1377 D>N No ClinGen
gnomAD
rs1340688664
CA403508269
1378 M>T No ClinGen
gnomAD
CA403508254
rs373247829
1379 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9109253
rs373247829
1379 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs558948003
CA9109251
1382 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA9109249
rs755603479
1383 E>K No ClinGen
ExAC
gnomAD
CA403508153
rs114166264
1384 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9109248
rs114166264
1384 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA403508161
rs1394993665
1384 R>W No ClinGen
gnomAD
CA304603994
rs140530332
1388 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs267605547
CA9109246
1389 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1482164454
CA403507213
1391 L>I No ClinGen
TOPMed
gnomAD
rs1020485119
CA304603993
1392 K>R No ClinGen
TOPMed
gnomAD
CA9109245
rs369098162
1393 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1398 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs374920205
CA9109217
1401 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA403507007
rs1455732532
1402 P>S No ClinGen
TOPMed
gnomAD
CA403507005
rs1455732532
1402 P>T No ClinGen
TOPMed
gnomAD
CA403506879
rs1379803911
1410 H>L No ClinGen
gnomAD
CA403506881
rs1379803911
1410 H>R No ClinGen
gnomAD
rs1364755919
CA403506852
1412 N>K No ClinGen
gnomAD
rs201183797
CA9109214
1412 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA304603992
rs201183797
1412 N>T No ClinGen
1000Genomes
ExAC
gnomAD
CA9109212
rs773573468
1416 N>K No ClinGen
ExAC
gnomAD
rs1399239013
CA403506788
1418 P>A No ClinGen
gnomAD
rs530579519
CA9109211
1418 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA403506762
rs1440179947
1421 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA403506760
rs1420232605
1421 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs768182732
CA9109208
1425 V>I No ClinGen
ExAC
gnomAD
rs768182732
CA403506709
1425 V>L No ClinGen
ExAC
gnomAD
CA304603990
rs976014452
1426 I>L No ClinGen
TOPMed
CA9109206
rs114545401
1427 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9109205
rs114545401
1427 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA403506679
rs1283955648
1427 A>V No ClinGen
TOPMed
gnomAD
CA403506660
rs1217838563
1429 D>Y No ClinGen
gnomAD
rs778834304
CA9109203
1430 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1356400067
CA403506641
1430 H>Y No ClinGen
gnomAD
rs1064298
CA304603989
1431 S>F No ClinGen
Ensembl
CA403506611
rs1379973129
1432 R>H No ClinGen
gnomAD
rs190342971
CA9109199
1437 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9109198
rs751626412
1438 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA9109197
rs766847307
1438 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs528875239
CA403506432
1441 I>F No ClinGen
1000Genomes
gnomAD
rs528875239
CA304603899
1441 I>L No ClinGen
1000Genomes
gnomAD
rs747192109
CA9109162
1442 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs974923793
CA304603898
1442 M>T No ClinGen
TOPMed
gnomAD
rs747192109
CA9109161
1442 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs780295096
CA9109160
1443 G>S No ClinGen
ExAC
gnomAD
CA403506412
rs1328615941
1444 S>T No ClinGen
TOPMed
rs1270305003
CA403506404
1445 D>G No ClinGen
TOPMed
rs1426779255
CA403506385
1448 N>H No ClinGen
gnomAD
rs192807174
CA9109155
1452 V>M No ClinGen
1000Genomes
ExAC
gnomAD
rs1031952638
CA304603897
1453 D>N No ClinGen
TOPMed
CA403506341
rs1457749790
1454 G>C No ClinGen
TOPMed
gnomAD
CA403506343
rs1457749790
1454 G>S No ClinGen
TOPMed
gnomAD
CA403506333
rs1238817348
1455 Y>C No ClinGen
gnomAD
rs752266796
CA9109152
1456 R>Q No ClinGen
ExAC
gnomAD
CA9109153
rs373940938
1456 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9109151
rs4807697
VAR_047277
1457 C>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs4807697
CA403506326
1457 C>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369756620
CA9109150
1457 C>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1221980061
CA403506309
1459 N>S No ClinGen
gnomAD
CA9109148
rs189135288
1460 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs762790087
CA9109147
1460 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA403506294
rs1301896231
1461 Y>* No ClinGen
gnomAD
rs930416291
CA304603896
1462 I>V No ClinGen
TOPMed
CA403506284
rs1466270055
1463 A>S No ClinGen
gnomAD
rs1274728310
CA403506275
1464 T>M No ClinGen
TOPMed
gnomAD
rs775641545
CA9109143
1466 G>A No ClinGen
ExAC
gnomAD
CA9109142
rs116660613
1467 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1255636453
CA403506248
1469 P>L No ClinGen
gnomAD
CA9109139
rs757423838
1477 R>C No ClinGen
ExAC
gnomAD
CA304603895
rs532712500
1477 R>H No ClinGen
gnomAD
CA9109138
rs749723623
1479 V>M No ClinGen
ExAC
gnomAD
rs778389901
CA9109137
1480 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs972894021
CA304603894
1481 E>G No ClinGen
Ensembl
rs767215087
CA9109134
1483 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs376549612
CA9109136
1483 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1599387546
CA403506148
1484 S>A No ClinGen
Ensembl
CA9109133
rs754694289
1484 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765806159
CA9109131
1485 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA9109130
rs139132124
1485 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1487 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1326918817
CA403506132
1487 I>V No ClinGen
gnomAD
rs116515629
CA9109127
1488 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs776422333
CA9109126
1489 M>T No ClinGen
ExAC
gnomAD
CA9109125
rs768496731
1491 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA403506097
rs770889503
1492 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA9109122
rs770889503
1492 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs369295620
CA9109123
1492 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA403506092
rs1285057720
1493 L>R No ClinGen
TOPMed
CA304603893
rs867284088
1494 E>G No ClinGen
Ensembl
rs1218678810
CA403506084
1495 E>K No ClinGen
gnomAD
CA403506063
rs1264309988
1497 S>L No ClinGen
TOPMed
gnomAD
rs748467965
CA9109118
1498 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA304603892
rs748467965
1498 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA403506061
rs1205787412
1498 R>W No ClinGen
TOPMed
rs769120046
CA9109099
1499 I>S No ClinGen
ExAC
TOPMed
gnomAD
CA403506035
rs61729768
1500 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA304603887
rs1036033572
1502 D>E No ClinGen
Ensembl
rs368562196
CA9109096
1503 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs939094664
CA304603886
1506 P>L No ClinGen
Ensembl
CA304603885
rs928845139
1507 N>S No ClinGen
gnomAD
rs778479954
CA9109094
1509 G>S No ClinGen
ExAC
gnomAD
rs147152459
CA9109092
1510 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs724159896
CA304603884
1511 E>K No ClinGen
Ensembl
CA403505958
rs1197491728
1512 T>A No ClinGen
gnomAD
CA304603883
rs760418863
1513 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs760418863
CA9109090
1513 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA403505944
rs1568375584
1514 G>A No ClinGen
Ensembl
rs116099658
CA403505947
1514 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9109088
rs116099658
1514 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs540902322
CA9109087
1516 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA403505926
rs1236009082
1517 Q>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA403505925
rs1375370905
1517 Q>R No ClinGen
gnomAD
rs1308542151
CA403505916
1518 V>A No ClinGen
gnomAD
rs773377919
CA9109086
1519 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA403505893
rs1166726276
1522 D>G No ClinGen
TOPMed
gnomAD
rs769320080
CA9109082
1525 E>K No ClinGen
ExAC
gnomAD
rs772384138
CA403505835
1531 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs772384138
CA9109079
1531 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA403505822
rs1177403750
1533 T>S No ClinGen
gnomAD
CA9109074
CA403505814
rs533685228
1534 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs143481159
CA9109076
1534 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs527477754
CA9109075
1534 F>S No ClinGen
1000Genomes
ExAC
gnomAD
CA304603882
rs977538185
1535 S>F No ClinGen
TOPMed
gnomAD
rs754773533
CA9109070
1537 H>D No ClinGen
ExAC
gnomAD
CA304603880
rs747517599
1537 H>Q No ClinGen
gnomAD
rs1483140281
CA403505801
1537 H>R No ClinGen
gnomAD
rs750640223
CA9109069
1538 K>E No ClinGen
ExAC
gnomAD
rs757568361
CA304603599
1545 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs754177433
CA9109045
1545 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs757568361
CA9109046
1545 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA9109042
rs776015928
1546 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs369058883
CA9109040
1548 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9109039
rs753499659
1548 R>H No ClinGen
ExAC
gnomAD
CA9109038
rs771340725
1549 Q>K No ClinGen
ExAC
gnomAD
TCGA novel 1552 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs182037655
CA9109036
1553 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1191088838
CA403505007
1554 A>V No ClinGen
TOPMed
gnomAD
rs1248490430
CA403504987
1555 W>C No ClinGen
gnomAD
rs1196839847
CA403504980
1556 P>L No ClinGen
gnomAD
rs1258938541
CA403504977
1557 D>Y No ClinGen
gnomAD
CA403504938
rs150241840
1560 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs150241840
CA9109029
1560 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA403504928
rs1368253825
1561 P>T No ClinGen
gnomAD
CA403504911
rs1375587926
1562 E>A No ClinGen
gnomAD
CA9109027
rs778163463
1562 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9109025
rs752720358
1565 T>A No ClinGen
ExAC
gnomAD
CA9109024
rs768007031
1565 T>M No ClinGen
ExAC
gnomAD
CA403504863
rs1415481564
1566 P>S No ClinGen
TOPMed
gnomAD
CA403504824
rs1397448438
1569 A>D No ClinGen
gnomAD
rs558410776
CA9109020
1572 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9109018
rs769362751
1572 R>Q No ClinGen
ExAC
gnomAD
CA9109019
rs558410776
1572 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1482411453
CA403504785
1573 R>G No ClinGen
gnomAD
TCGA novel 1573 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1286819853
CA403504720
1577 C>* No ClinGen
gnomAD
rs544938921
CA9109017
1577 C>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1209168744
CA403504711
1578 N>S No ClinGen
gnomAD
rs372226485
CA9109015
1579 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs372226485
CA9109016
1579 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1237948621
CA403504689
1580 P>S No ClinGen
gnomAD
rs1352291696
CA403504667
1581 D>E No ClinGen
gnomAD
rs1309412012
CA403504666
1582 A>T No ClinGen
gnomAD
rs771943247
CA9109012
1582 A>V No ClinGen
ExAC
gnomAD
CA9109010
rs777981018
1583 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1449197300
CA403504642
1584 P>S No ClinGen
gnomAD
CA304603594
rs1038424215
1585 I>T No ClinGen
Ensembl
rs915320010
CA304603595
1585 I>V No ClinGen
TOPMed
rs1380942206
CA403504608
1587 V>L No ClinGen
gnomAD
CA9108972
rs571743236
1592 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs776677741
CA9108971
1595 R>C No ClinGen
ExAC
gnomAD
rs1385628370
CA403504477
1595 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA403504451
rs1355060495
1599 F>Y No ClinGen
TOPMed
rs367918810
CA9108968
1601 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9108966
rs151279682
1603 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9108963
rs377564137
1604 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9108964
rs377564137
1604 A>T Variant assessed as Somatic; 4.656e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA403504396
rs1431393078
1607 E>V No ClinGen
gnomAD
rs148739536
CA9108960
1608 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9108961
rs142364974
1608 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1255744139
CA403504375
1611 P>S No ClinGen
gnomAD
TCGA novel 1614 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs144570007
CA9108955
1617 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9108956
rs144570007
1617 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1393306881
CA403504325
1618 Y>C No ClinGen
TOPMed
CA403504305
rs1242977508
1621 V>L No ClinGen
TOPMed
rs1242977508
CA403504307
1621 V>M No ClinGen
TOPMed
rs775731386
CA9108951
1622 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1057017143 1628 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751085808 1643 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1330569020 1644 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1648 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1654 T>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1314953096 1659 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749770933 1659 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs145108936 1710 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs753283232 1715 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1351895585 1721 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768527095 1733 S>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1737 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758652323 1752 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs762745270 1756 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1157608522 1766 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs779302415 1773 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs753489907 1774 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1778 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1477121983 1798 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771577284 1798 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs773706905 1801 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1821 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771526918 1834 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1269269717 1834 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1161731225 1837 R>W Variant assessed as Somatic; 4.71e-05 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1846 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777398236 1847 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
RCV000901083
rs148478353
1852 S>L No ClinVar
dbSNP
TCGA novel 1859 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1883 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759155627 1884 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1477222866 1887 T>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752031088 1899 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1903 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1290109580 1919 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1927 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1928 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1326058191 1935 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA

No associated diseases with Q13332

27 regional properties for Q13332

Type Name Position InterPro Accession
domain Tyrosine-specific protein phosphatase, PTPase domain 1392 - 1650 IPR000242-1
domain Tyrosine-specific protein phosphatase, PTPase domain 1679 - 1941 IPR000242-2
domain Tyrosine-specific protein phosphatases domain 1568 - 1639 IPR000387-1
domain Tyrosine-specific protein phosphatases domain 1857 - 1930 IPR000387-2
domain Protein-tyrosine phosphatase, catalytic 1546 - 1647 IPR003595-1
domain Protein-tyrosine phosphatase, catalytic 1835 - 1938 IPR003595-2
domain Immunoglobulin subtype 2 45 - 114 IPR003598-1
domain Immunoglobulin subtype 2 147 - 223 IPR003598-2
domain Immunoglobulin subtype 2 257 - 318 IPR003598-3
domain Immunoglobulin subtype 39 - 125 IPR003599-1
domain Immunoglobulin subtype 141 - 235 IPR003599-2
domain Immunoglobulin subtype 251 - 329 IPR003599-3
domain Fibronectin type III 332 - 424 IPR003961-1
domain Fibronectin type III 427 - 523 IPR003961-2
domain Fibronectin type III 525 - 616 IPR003961-3
domain Fibronectin type III 618 - 718 IPR003961-4
domain Fibronectin type III 720 - 831 IPR003961-5
domain Fibronectin type III 832 - 930 IPR003961-6
domain Fibronectin type III 929 - 1033 IPR003961-7
domain Fibronectin type III 1034 - 1120 IPR003961-8
domain Immunoglobulin-like domain 33 - 123 IPR007110-1
domain Immunoglobulin-like domain 135 - 233 IPR007110-2
domain Immunoglobulin-like domain 245 - 327 IPR007110-3
domain Immunoglobulin I-set 33 - 124 IPR013098-1
domain Immunoglobulin I-set 245 - 328 IPR013098-2
active_site Protein-tyrosine phosphatase, active site 1587 - 1597 IPR016130-1
active_site Protein-tyrosine phosphatase, active site 1878 - 1888 IPR016130-2

Functions

Description
EC Number 3.1.3.48 Phosphoric monoester hydrolases
Subcellular Localization
  • Cell membrane ; Single-pass type I membrane protein
  • Cell projection, axon
  • Perikaryon
  • Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane
  • Synapse, synaptosome
  • Postsynaptic density
  • Cell projection, neuron projection
  • Cell projection, growth cone
  • Is rapidly internalized when dendritic cells are stimulated with the TLR9 ligand cytidine-phosphate-guanosine (CpG) (PubMed:26231120)
  • Detected in a punctate pattern along neurites and axon growth cones (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

10 GO annotations of cellular component

Name Definition
anchoring junction A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
axon The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
growth cone The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic.
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.
integral component of postsynaptic density membrane The component of the postsynaptic density membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integral component of synaptic vesicle membrane The component of the synaptic vesicle 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.
perikaryon The portion of the cell soma (neuronal cell body) that excludes the nucleus.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

5 GO annotations of molecular function

Name Definition
chondroitin sulfate binding Binding to chondroitin sulfate, a glycosaminoglycan made up of two alternating monosaccharides: D-glucuronic acid (GlcA) and N-acetyl-D-galactosamine (GalNAc).
heparan sulfate proteoglycan binding Binding to a heparan sulfate proteoglycan, any proteoglycan containing heparan 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.
phosphoprotein phosphatase activity Catalysis of the reaction: a phosphoprotein + H2O = a protein + phosphate. Together with protein kinases, these enzymes control the state of phosphorylation of cellular proteins and thereby provide an important mechanism for regulating cellular activity.
protein tyrosine phosphatase activity Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate.

11 GO annotations of biological process

Name Definition
negative regulation of axon extension Any process that stops, prevents, or reduces the frequency, rate or extent of axon outgrowth.
negative regulation of axon regeneration Any process that stops, prevents, or reduces the frequency, rate or extent of axon regeneration.
negative regulation of collateral sprouting Any process that stops, prevents, or reduces the frequency, rate or extent of collateral sprouting.
negative regulation of dendritic spine development Any process that decreases the rate, frequency, or extent of dendritic spine development, the process whose specific outcome is the progression of the dendritic spine over time, from its formation to the mature structure.
negative regulation of interferon-alpha production Any process that stops, prevents, or reduces the frequency, rate, or extent of interferon-alpha production.
negative regulation of interferon-beta production Any process that stops, prevents, or reduces the frequency, rate, or extent of interferon-beta production.
negative regulation of neuron projection development Any process that decreases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
negative regulation of toll-like receptor 9 signaling pathway Any process that stops, prevents, or reduces the frequency, rate, or extent of toll-like receptor 9 signaling pathway.
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.
synaptic membrane adhesion The attachment of presynaptic membrane to postsynaptic membrane via adhesion molecules that are at least partially embedded in the plasma membrane.

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
P10586 PTPRF Receptor-type tyrosine-protein phosphatase F Homo sapiens (Human) PR
P23468 PTPRD Receptor-type tyrosine-protein phosphatase delta 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
MAPTWGPGMV SVVGPMGLLV VLLVGGCAAE EPPRFIKEPK DQIGVSGGVA SFVCQATGDP
70 80 90 100 110 120
KPRVTWNKKG KKVNSQRFET IEFDESAGAV LRIQPLRTPR DENVYECVAQ NSVGEITVHA
130 140 150 160 170 180
KLTVLREDQL PSGFPNIDMG PQLKVVERTR TATMLCAASG NPDPEITWFK DFLPVDPSAS
190 200 210 220 230 240
NGRIKQLRSE TFESTPIRGA LQIESSEETD QGKYECVATN SAGVRYSSPA NLYVRELREV
250 260 270 280 290 300
RRVAPRFSIL PMSHEIMPGG NVNITCVAVG SPMPYVKWMQ GAEDLTPEDD MPVGRNVLEL
310 320 330 340 350 360
TDVKDSANYT CVAMSSLGVI EAVAQITVKS LPKAPGTPMV TENTATSITI TWDSGNPDPV
370 380 390 400 410 420
SYYVIEYKSK SQDGPYQIKE DITTTRYSIG GLSPNSEYEI WVSAVNSIGQ GPPSESVVTR
430 440 450 460 470 480
TGEQAPASAP RNVQARMLSA TTMIVQWEEP VEPNGLIRGY RVYYTMEPEH PVGNWQKHNV
490 500 510 520 530 540
DDSLLTTVGS LLEDETYTVR VLAFTSVGDG PLSDPIQVKT QQGVPGQPMN LRAEARSETS
550 560 570 580 590 600
ITLSWSPPRQ ESIIKYELLF REGDHGREVG RTFDPTTSYV VEDLKPNTEY AFRLAARSPQ
610 620 630 640 650 660
GLGAFTPVVR QRTLQSKPSA PPQDVKCVSV RSTAILVSWR PPPPETHNGA LVGYSVRYRP
670 680 690 700 710 720
LGSEDPEPKE VNGIPPTTTQ ILLEALEKWT QYRITTVAHT EVGPGPESSP VVVRTDEDVP
730 740 750 760 770 780
SAPPRKVEAE ALNATAIRVL WRSPAPGRQH GQIRGYQVHY VRMEGAEARG PPRIKDVMLA
790 800 810 820 830 840
DAQWETDDTA EYEMVITNLQ PETAYSITVA AYTMKGDGAR SKPKVVVTKG AVLGRPTLSV
850 860 870 880 890 900
QQTPEGSLLA RWEPPAGTAE DQVLGYRLQF GREDSTPLAT LEFPPSEDRY TASGVHKGAT
910 920 930 940 950 960
YVFRLAARSR GGLGEEAAEV LSIPEDTPRG HPQILEAAGN ASAGTVLLRW LPPVPAERNG
970 980 990 1000 1010 1020
AIVKYTVAVR EAGALGPARE TELPAAAEPG AENALTLQGL KPDTAYDLQV RAHTRRGPGP
1030 1040 1050 1060 1070 1080
FSPPVRYRTF LRDQVSPKNF KVKMIMKTSV LLSWEFPDNY NSPTPYKIQY NGLTLDVDGR
1090 1100 1110 1120 1130 1140
TTKKLITHLK PHTFYNFVLT NRGSSLGGLQ QTVTAWTAFN LLNGKPSVAP KPDADGFIMV
1150 1160 1170 1180 1190 1200
YLPDGQSPVP VQSYFIVMVP LRKSRGGQFL TPLGSPEDMD LEELIQDISR LQRRSLRHSR
1210 1220 1230 1240 1250 1260
QLEVPRPYIA ARFSVLPPTF HPGDQKQYGG FDNRGLEPGH RYVLFVLAVL QKSEPTFAAS
1270 1280 1290 1300 1310 1320
PFSDPFQLDN PDPQPIVDGE EGLIWVIGPV LAVVFIICIV IAILLYKNKP DSKRKDSEPR
1330 1340 1350 1360 1370 1380
TKCLLNNADL APHHPKDPVE MRRINFQTPD SGLRSPLREP GFHFESMLSH PPIPIADMAE
1390 1400 1410 1420 1430 1440
HTERLKANDS LKLSQEYESI DPGQQFTWEH SNLEVNKPKN RYANVIAYDH SRVILQPIEG
1450 1460 1470 1480 1490 1500
IMGSDYINAN YVDGYRCQNA YIATQGPLPE TFGDFWRMVW EQRSATIVMM TRLEEKSRIK
1510 1520 1530 1540 1550 1560
CDQYWPNRGT ETYGFIQVTL LDTIELATFC VRTFSLHKNG SSEKREVRQF QFTAWPDHGV
1570 1580 1590 1600 1610 1620
PEYPTPFLAF LRRVKTCNPP DAGPIVVHCS AGVGRTGCFI VIDAMLERIK PEKTVDVYGH
1630 1640 1650 1660 1670 1680
VTLMRSQRNY MVQTEDQYSF IHEALLEAVG CGNTEVPARS LYAYIQKLAQ VEPGEHVTGM
1690 1700 1710 1720 1730 1740
ELEFKRLANS KAHTSRFISA NLPCNKFKNR LVNIMPYEST RVCLQPIRGV EGSDYINASF
1750 1760 1770 1780 1790 1800
IDGYRQQKAY IATQGPLAET TEDFWRMLWE NNSTIVVMLT KLREMGREKC HQYWPAERSA
1810 1820 1830 1840 1850 1860
RYQYFVVDPM AEYNMPQYIL REFKVTDARD GQSRTVRQFQ FTDWPEQGVP KSGEGFIDFI
1870 1880 1890 1900 1910 1920
GQVHKTKEQF GQDGPISVHC SAGVGRTGVF ITLSIVLERM RYEGVVDIFQ TVKMLRTQRP
1930 1940
AMVQTEDEYQ FCYQAALEYL GSFDHYAT