Q9Y4W6
PR
Gene name |
AFG3L2 |
Protein name |
AFG3-like protein 2 |
Names |
Paraplegin-like protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10939 |
EC number |
|
Protein Class |
|
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
3 structures for Q9Y4W6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2LNA | NMR | - | A | 164-251 | PDB |
| 6NYY | EM | 300 A | A/B/C/D/E/F | 272-797 | PDB |
| AF-Q9Y4W6-F1 | Predicted | AlphaFoldDB |
614 variants for Q9Y4W6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002546692 RCV001334608 rs1909186789 |
3 | H>Y | Spastic ataxia 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003135988 rs866272063 RCV001331644 CA296726451 |
18 | G>V | Spinocerebellar ataxia type 28 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10651369 rs886053617 RCV000364860 |
30 | P>L | Spinocerebellar ataxia type 28 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs777868371 RCV000312572 RCV000992838 CA8896855 RCV002523035 |
33 | Q>P | Autosomal dominant cerebellar ataxia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_084603 | 74 | E>A | OPA12; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV001252969 rs1908967089 |
82 | N>H | Spinocerebellar ataxia type 28 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000402595 rs886053616 CA10647192 |
90 | K>E | Spinocerebellar ataxia type 28 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA296713390 rs915684170 RCV000713021 RCV001796977 |
122 | K>I | Spinocerebellar ataxia type 28 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA401954380 rs1373473541 RCV000662105 RCV001756119 RCV000662106 |
191 | V>I | Spinocerebellar ataxia type 28 Spastic ataxia 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV003117775 RCV001128629 CA8896680 rs768999765 |
240 | R>W | Spinocerebellar ataxia type 28 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000283135 rs149605021 CA8896651 RCV000713023 |
265 | A>T | Spinocerebellar ataxia type 28 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8896647 rs180989155 RCV001334609 RCV000518642 |
280 | R>W | Spastic ataxia 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001249482 RCV001253816 rs1908569446 VAR_084604 |
306 | K>E | Dystonic disorder Spastic ataxia 5 SPAX5; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV001253810 VAR_084605 rs1908566777 |
337 | G>E | Optic atrophy 12 OPA12; loss-of-function variant resulting in aberrant OPA1 processing and mitochondrial fragmentation [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
| VAR_084606 | 337 | G>R | OPA12 [UniProt] | Yes | UniProt |
|
CA8896605 VAR_084607 rs755893615 RCV001249479 |
346 | L>F | Optic atrophy OPA12; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA16607547 RCV001249481 RCV000512691 rs1057522195 RCV000426314 |
355 | T>M | Dystonic disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000995692 rs1598832568 CA401953160 |
373 | S>R | Spinocerebellar ataxia type 28 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_084608 | 376 | E>K | OPA12; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs1908507433 VAR_084609 RCV001249480 |
377 | F>S | Optic atrophy OPA12; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs1908371616 RCV001253813 RCV001249475 VAR_084610 |
407 | D>G | Optic atrophy 12 Sensorineural hearing loss disorder OPA12; unknown pathological significance; decreased proteolytic function [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
| VAR_084611 | 416 | R>S | OPA12; unknown pathological significance [UniProt] | Yes | UniProt |
|
VAR_084612 rs1908369114 RCV001249478 |
430 | T>I | Optic atrophy OPA12; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
CA340428 VAR_063544 rs151344512 RCV000005808 |
432 | N>T | Spinocerebellar ataxia type 28 SCA28 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs912546325 RCV000658802 RCV001249477 RCV001249473 RCV001253811 VAR_084613 CA296701043 RCV001253812 |
462 | A>V | Optic atrophy Optic atrophy 12 Cerebellar ataxia Spastic ataxia 5 OPA12 and SPAX5; decreased proteolytic function [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_084614 rs1908309088 RCV001249474 |
465 | R>K | Optic atrophy OPA12; decreased proteolytic function [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs375098002 RCV000289354 RCV000660399 CA325224 RCV002517192 |
466 | P>L | Spinocerebellar ataxia type 28 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA296700992 COSM986611 RCV000684752 rs1020764190 RCV001253809 VAR_084615 |
468 | R>C | Optic atrophy Optic atrophy 12 Variant assessed as Somatic; impact. endometrium OPA12; decreased proteolytic function resulting in impaired autocatalytic processing and impaired proteolytic maturation of SPG7; does not affect the interaction with SPG7 [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001331643 rs1908302608 |
501 | E>K | Spastic ataxia 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001123909 rs1908301962 |
506 | A>S | Spinocerebellar ataxia type 28 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001249476 RCV001253814 rs1908300748 VAR_084616 |
514 | P>L | Optic atrophy Optic atrophy 12 OPA12; decreased proteolytic function [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs758811358 RCV002558214 CA8896422 RCV001122823 |
569 | K>T | Spinocerebellar ataxia type 28 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8896412 RCV001266718 rs139192793 |
589 | D>H | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1263405472 COSM1387799 RCV001122822 CA401947766 |
599 | R>H | Spinocerebellar ataxia type 28 Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001249483 rs773240455 CA8896372 RCV002473246 VAR_084617 |
605 | Y>C | Optic atrophy OPA12; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000489887 RCV002523416 CA8896369 rs774546735 |
607 | Q>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_067330 RCV000414375 CA129200 RCV000023380 rs387906889 |
616 | Y>C | Spastic ataxia 5 SPAX5; hypomorphic mutation; results in impaired oligomerization with itself and SPG7; retains ATPase and proteolytic activities [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001249477 RCV001253808 VAR_084618 rs1907907851 |
620 | Q>K | Cerebellar ataxia Spastic ataxia 5 SPAX5; impaired function shown in a yeast complementation assay [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
| VAR_080736 | 621 | L>V | SCA28; unknown pathological significance [UniProt] | Yes | UniProt |
|
CA175106 RCV000149914 rs727502823 RCV003144139 RCV002265626 |
625 | M>I | Spinocerebellar ataxia type 28 Spastic ataxia 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001249482 RCV001253815 rs1907906060 |
633 | V>* | Dystonic disorder Spastic ataxia 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_084619 rs1226952405 CA401946750 |
644 | T>S | OPA12; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
RCV002522358 CA16608707 rs201231686 RCV000431569 |
645 | G>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16043984 rs764254189 RCV000415684 |
651 | R>G | Spastic ataxia 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs151344513 CA343030 VAR_064402 |
654 | T>I | SCA28 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV000624881 CA658799001 rs1555670560 |
665 | G>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_064403 CA342733 RCV000023377 rs151344515 |
666 | M>R | Spinocerebellar ataxia type 28 SCA28 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000031943 CA343032 VAR_064404 rs151344515 |
666 | M>T | Spinocerebellar ataxia type 28 SCA28 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000023376 rs151344514 VAR_064405 RCV000992830 CA342731 RCV002490407 |
666 | M>V | Spinocerebellar ataxia type 28 SCA28 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA343034 RCV000031946 rs151344518 VAR_064406 |
671 | G>E | Spinocerebellar ataxia type 28 SCA28 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_064407 RCV000023378 CA342735 rs151344517 |
671 | G>R | Spinocerebellar ataxia type 28 SCA28 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000005805 rs151344519 CA340421 |
674 | S>L | Spinocerebellar ataxia type 28 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002559257 CA8896321 RCV001197207 rs778455371 |
677 | L>P | Optic atrophy 12 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8896320 RCV003168484 rs551015841 RCV000517688 RCV000330348 |
679 | R>C | Spinocerebellar ataxia type 28 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001773581 rs797045221 RCV001268617 |
688 | P>S | Spinocerebellar ataxia type 28 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA401944050 RCV001091986 rs1598820860 VAR_075198 RCV000995691 |
689 | Y>H | Spinocerebellar ataxia type 28 SCA28 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_075199 | 689 | Y>N | SCA28 [UniProt] | Yes | UniProt |
|
VAR_063545 rs151344520 RCV000005804 CA340419 |
691 | E>K | Spinocerebellar ataxia type 28 SCA28; impaired function shown in a yeast complementation assay [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs151344521 RCV000005806 CA340424 VAR_063546 |
694 | A>E | Spinocerebellar ataxia type 28 SCA28 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_064408 RCV000031947 CA343036 rs151344522 RCV001207352 |
700 | E>K | Spinocerebellar ataxia type 28 SCA28 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000005807 CA340426 rs151344523 VAR_063547 RCV000487661 |
702 | R>Q | Spinocerebellar ataxia type 28 SCA28 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
COSM3362457 CA401943821 RCV001809882 RCV000992832 rs1598820805 |
705 | I>T | Spinocerebellar ataxia type 28 kidney [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV003224221 RCV000195592 RCV002517193 rs139469785 RCV001122821 CA319947 RCV001640294 RCV001640293 |
723 | V>M | Spinocerebellar ataxia type 28 Variant assessed as Somatic; 4.621e-05 impact. Inborn genetic diseases Spastic ataxia 5 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001262989 RCV000369996 RCV000488282 RCV000197194 rs117182113 CA321640 |
772 | L>F | Spinocerebellar ataxia type 28 Spastic ataxia 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000298914 rs886053614 CA10651363 |
782 | E>D | Spinocerebellar ataxia type 28 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000482572 CA8896223 rs200514577 RCV001809441 |
783 | R>W | Spinocerebellar ataxia type 28 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001249483 rs1907449398 |
793 | E>* | Optic atrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1172228973 CA401955653 |
3 | H>Q | No |
ClinGen gnomAD |
|
|
rs1427880587 CA401955656 |
3 | H>R | No |
ClinGen gnomAD |
|
|
rs770110473 CA8896860 |
4 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770110473 CA401955651 |
4 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113810742 CA296726491 |
5 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs113810742 CA401955643 |
5 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA401955631 rs1187942407 |
7 | R>W | No |
ClinGen gnomAD |
|
|
CA401955625 rs1053593126 |
8 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1053593126 CA296726478 |
8 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA296726477 rs889942574 |
9 | W>C | No |
ClinGen gnomAD |
|
|
rs1598843232 CA401955621 |
9 | W>G | No |
ClinGen Ensembl |
|
|
CA401955612 rs1258399102 |
10 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA296726475 RCV000992833 rs1050447923 |
11 | R>G | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA401955608 rs1275518816 |
11 | R>P | No |
ClinGen TOPMed |
|
|
rs1050447923 CA296726467 |
11 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs934230033 CA296726462 |
12 | G>D | No |
ClinGen Ensembl |
|
|
rs1243084934 CA401955595 |
14 | C>S | No |
ClinGen TOPMed |
|
|
rs773265568 CA296726454 |
15 | W>* | No |
ClinGen Ensembl |
|
|
rs1487076555 CA401955585 |
15 | W>G | No |
ClinGen TOPMed |
|
|
CA401955583 rs1184976380 |
15 | W>S | No |
ClinGen TOPMed |
|
|
CA401955575 rs1291402347 |
16 | P>R | No |
ClinGen gnomAD |
|
|
rs1277914690 CA401955579 |
16 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1230338272 CA401955568 |
17 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1475573954 CA401955572 |
17 | R>S | No |
ClinGen TOPMed |
|
|
CA401955565 rs1342360644 |
18 | G>C | No |
ClinGen gnomAD |
|
|
rs1568149481 RCV000760763 CA401955557 |
20 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1341713137 CA401955547 |
21 | Q>* | No |
ClinGen gnomAD |
|
|
CA401955535 rs1403558421 |
23 | L>F | No |
ClinGen TOPMed |
|
|
rs1163762184 CA401955524 |
24 | V>G | No |
ClinGen TOPMed |
|
|
rs1397111933 CA401955527 |
24 | V>L | No |
ClinGen gnomAD |
|
|
rs1432033598 CA401955515 |
26 | G>D | No |
ClinGen gnomAD |
|
|
rs746437793 CA8896856 |
26 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA296726401 rs1042109325 |
27 | G>D | No |
ClinGen TOPMed |
|
|
CA401955507 rs1168163108 |
28 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA296726399 rs1053085369 |
30 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs934659177 CA296726395 |
32 | E>G | No |
ClinGen Ensembl |
|
|
rs1423103070 CA401955485 |
32 | E>K | No |
ClinGen gnomAD |
|
|
rs978801324 CA296726387 |
33 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA401955467 rs1273702289 |
34 | P>L | No |
ClinGen gnomAD |
|
|
rs1193697315 CA401955456 |
36 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1193697315 CA401955457 |
36 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1265512308 CA401955450 |
37 | R>Q | No |
ClinGen gnomAD |
|
|
rs1285632115 RCV000992826 CA401955444 |
38 | T>K | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1332997885 CA401955417 |
40 | Y>* | No |
ClinGen gnomAD |
|
|
rs1440480207 CA401955419 |
40 | Y>C | No |
ClinGen gnomAD |
|
|
CA401955415 RCV001320974 rs1324490374 |
41 | R>* | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
COSM1750456 CA8896841 rs776352499 |
41 | R>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA401955396 rs1392351783 |
44 | T>A | No |
ClinGen gnomAD |
|
|
rs770433919 CA8896840 |
45 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161540273 CA401955391 |
45 | T>P | No |
ClinGen gnomAD |
|
|
rs770433919 CA401955388 |
45 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368128518 CA401955384 |
46 | Q>K | No |
ClinGen TOPMed |
|
|
CA8896839 rs746661712 |
47 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA296722318 rs199805314 |
48 | R>G | No |
ClinGen 1000Genomes |
|
|
CA8896837 rs771679779 |
49 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1568147292 CA401955362 |
50 | S>G | No |
ClinGen Ensembl |
|
|
CA401955359 rs1232983228 |
50 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 51 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8896836 rs748149058 |
51 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8896835 rs778950401 |
52 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA296722310 rs959377776 |
55 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1598840298 CA401955322 |
56 | T>A | No |
ClinGen Ensembl |
|
|
rs1249339790 CA401955319 |
56 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs768499350 CA8896834 |
57 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs779882681 CA8896832 |
58 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748974374 CA8896833 |
58 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347535850 CA401955300 |
59 | I>S | No |
ClinGen gnomAD |
|
|
CA8896831 rs757484600 |
60 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA401955293 rs1275864956 |
61 | A>T | No |
ClinGen gnomAD |
|
|
rs374268503 CA8896830 |
62 | Y>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs374268503 CA401955286 |
62 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA401955266 rs1568147254 |
64 | R>S | No |
ClinGen Ensembl |
|
|
rs1369143239 CA401955269 |
64 | R>T | No |
ClinGen gnomAD |
|
|
CA8896829 rs777878815 |
66 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs543422544 CA8896828 RCV000992831 |
68 | R>* | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA8896826 rs765665699 |
68 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8896827 rs765665699 |
68 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759959216 CA8896825 |
69 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754215399 CA8896824 |
70 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA296721449 rs904633988 |
73 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1224790702 CA401955163 |
78 | P>R | No |
ClinGen gnomAD |
|
|
CA401955165 rs1484913978 |
78 | P>S | No |
ClinGen gnomAD |
|
|
rs1354961036 CA401955159 |
79 | N>D | No |
ClinGen TOPMed |
|
|
rs754341810 CA401955155 |
79 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1205462143 CA401955150 |
80 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 82 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1307201053 CA401955135 |
82 | N>S | No |
ClinGen gnomAD |
|
|
CA8896802 rs766705942 |
85 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA8896800 rs761076185 |
86 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA401955110 rs761076185 |
86 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 91 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8896797 rs371509337 |
91 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401955059 rs1207533781 |
93 | M>I | No |
ClinGen Ensembl |
|
|
CA8896795 rs768178649 |
93 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA8896796 rs774068096 |
93 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs578148830 CA8896794 |
95 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775447797 CA8896793 |
96 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146886797 CA296721368 |
96 | K>R | No |
ClinGen Ensembl |
|
|
CA401955028 rs1346272202 |
98 | E>Q | No |
ClinGen TOPMed |
|
|
rs993063548 CA296713503 |
98 | E>V | No |
ClinGen Ensembl |
|
| TCGA novel | 99 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8896768 rs776477554 |
100 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA8896767 rs200160430 |
100 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401954995 rs1568145596 |
101 | P>L | No |
ClinGen Ensembl |
|
|
CA401954999 rs1463800464 |
101 | P>S | No |
ClinGen TOPMed |
|
|
rs1245488345 CA401954983 |
103 | A>V | No |
ClinGen gnomAD |
|
|
rs1303202694 CA401954981 |
104 | T>A | No |
ClinGen gnomAD |
|
|
CA8896766 rs528206939 |
104 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA401954974 rs1369878631 |
105 | T>R | No |
ClinGen gnomAD |
|
|
COSM986616 CA8896765 rs774586707 |
106 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM3742547 CA8896764 rs768653338 |
106 | R>H | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA401954966 rs1598837955 |
107 | S>P | No |
ClinGen Ensembl |
|
|
CA401954957 rs1568145571 |
108 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 110 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1289931239 CA401954949 |
110 | G>R | No |
ClinGen gnomAD |
|
|
CA401954938 rs1296870725 |
111 | G>E | No |
ClinGen TOPMed |
|
|
rs779981037 CA8896762 |
113 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 114 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000422616 rs865891494 CA16607553 |
115 | G>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA401954920 rs369885409 |
115 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8896760 rs369885409 |
115 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1178773058 CA401954915 CA401954914 |
116 | G>R | No |
ClinGen gnomAD |
|
|
rs1454825061 CA401954901 |
118 | R>* | No |
ClinGen gnomAD |
|
|
CA8896759 rs144035534 |
118 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs781722307 CA8896758 |
121 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568145530 CA401954869 |
123 | D>G | No |
ClinGen Ensembl |
|
|
CA8896756 rs139232594 |
123 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401954854 rs1202279476 |
125 | S>C | No |
ClinGen gnomAD |
|
|
CA401954846 rs757859208 CA8896754 |
126 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs752336670 CA8896755 RCV000518579 |
126 | H>Y | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1015976659 CA296713359 |
127 | W>* | No |
ClinGen Ensembl |
|
|
rs1211346308 CA401954828 |
129 | S>T | No |
ClinGen gnomAD |
|
|
CA401954823 rs1346639007 |
129 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA8896753 rs752310091 |
131 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs764723311 CA8896752 |
133 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1250198307 CA401954781 |
134 | G>S | No |
ClinGen gnomAD |
|
|
CA296713209 rs747350748 |
136 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs747350748 CA8896738 |
136 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA401954739 rs758108965 |
140 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758108965 COSM986615 CA8896736 |
140 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 141 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs542241761 CA8896735 |
142 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA296713177 rs1045085059 |
144 | R>K | No |
ClinGen Ensembl |
|
|
rs200249258 CA8896734 RCV000992834 |
145 | M>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA401954702 rs200249258 |
145 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8896732 rs753776330 |
148 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs766261237 CA8896731 |
148 | L>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 148 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA296713171 rs753776330 |
148 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs377111283 CA8896729 |
151 | A>T | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA8896728 rs767215960 |
153 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA323160 RCV000992835 rs863223888 RCV000198626 |
155 | G>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA8896727 rs763297112 |
155 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1184084274 CA401954629 |
156 | G>* | No |
ClinGen gnomAD |
|
|
rs559781535 RCV000520245 CA296713136 |
158 | M>L | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs559781535 CA8896726 |
158 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 161 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs919194107 CA296713116 |
161 | L>F | No |
ClinGen Ensembl |
|
|
CA296713098 rs200108488 |
167 | G>A | No |
ClinGen 1000Genomes |
|
|
CA401954558 rs1234429070 |
167 | G>R | No |
ClinGen gnomAD |
|
|
CA401954539 rs1334842252 |
169 | E>D | No |
ClinGen gnomAD |
|
|
rs1291751221 CA401954531 |
171 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA401954517 rs1444834665 |
172 | W>C | No |
ClinGen gnomAD |
|
|
rs1158325509 CA401954523 |
172 | W>G | No |
ClinGen gnomAD |
|
|
CA401954485 rs1336534371 |
177 | N>D | No |
ClinGen gnomAD |
|
|
RCV001507396 CA8896724 RCV000517175 rs371921200 |
177 | N>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs368594369 RCV000713022 CA8896723 |
179 | Y>C | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs368594369 CA296713073 |
179 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 187 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8896714 rs779513123 |
189 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA401954362 rs1304179259 |
193 | K>R | No |
ClinGen gnomAD |
|
|
CA16620663 rs1020519204 RCV000481682 |
194 | R>C | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs148364117 CA8896712 |
194 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1022175149 CA296710686 |
197 | R>* | No |
ClinGen TOPMed |
|
|
rs1243579849 CA401954327 |
199 | T>N | No |
ClinGen gnomAD |
|
|
rs144401350 CA401954306 |
202 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144401350 CA8896711 |
202 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 204 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1568144326 CA401954279 |
207 | V>I | No |
ClinGen Ensembl |
|
|
rs753001755 CA8896708 |
208 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs893103050 CA296710662 |
209 | G>W | No |
ClinGen Ensembl |
|
|
CA8896691 rs757098780 |
210 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA8896688 rs377249792 |
211 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA296707724 rs112234987 |
211 | Y>H | No |
ClinGen Ensembl |
|
|
CA401954233 rs1346072536 |
212 | V>A | No |
ClinGen gnomAD |
|
|
CA8896687 rs201966169 |
212 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766492056 CA8896686 |
215 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA401954207 rs1215258983 |
216 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1598834278 CA401954150 |
224 | R>W | No |
ClinGen Ensembl |
|
| TCGA novel | 227 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1312004496 CA401954116 |
229 | L>S | No |
ClinGen TOPMed |
|
|
rs866451447 CA296707666 |
231 | Q>K | No |
ClinGen Ensembl |
|
|
rs1217613379 CA401954071 |
235 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 238 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs973549928 CA296707654 |
238 | E>Q | No |
ClinGen TOPMed |
|
|
rs774733416 CA8896681 |
239 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8896679 COSM563226 rs748957187 |
240 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1598834248 CA401954035 |
241 | V>G | No |
ClinGen Ensembl |
|
|
rs201199498 CA296707624 |
241 | V>M | No |
ClinGen Ensembl |
|
|
CA401954030 rs1355932627 |
242 | P>S | No |
ClinGen gnomAD |
|
|
CA296707618 rs963184141 |
243 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs963184141 CA401954026 |
243 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1014982319 CA296707578 |
244 | V>A | No |
ClinGen TOPMed |
|
|
rs1409424178 CA401954012 |
245 | Y>F | No |
ClinGen TOPMed |
|
|
CA401954002 rs1416823026 |
246 | I>M | No |
ClinGen gnomAD |
|
|
rs1408894692 CA401954007 |
246 | I>V | No |
ClinGen gnomAD |
|
|
CA8896678 rs537688223 |
247 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1568142906 CA401953993 |
248 | E>A | No |
ClinGen Ensembl |
|
|
CA401953951 rs1236358510 |
252 | S>C | No |
ClinGen gnomAD |
|
|
rs763265663 CA8896661 |
253 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA296706894 rs775232542 |
254 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 257 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA296706863 rs999201682 |
257 | M>V | No |
ClinGen Ensembl |
|
|
CA401953910 rs1307518582 |
259 | P>H | No |
ClinGen gnomAD |
|
|
rs759197142 CA8896658 |
259 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8896657 rs776071698 |
260 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs374353312 CA8896656 |
260 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs772022830 CA8896653 |
261 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA401953884 rs1456889376 |
264 | I>V | No |
ClinGen gnomAD |
|
|
RCV000597768 rs1555672386 CA401953858 |
268 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8896649 rs750649847 |
269 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA296706757 rs375692897 |
270 | T>I | No |
ClinGen gnomAD |
|
|
rs375692897 CA401953842 |
270 | T>N | No |
ClinGen gnomAD |
|
|
rs781266429 CA8896648 |
271 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252502195 CA401953834 |
272 | R>G | No |
ClinGen gnomAD |
|
|
CA401953805 rs1207977094 |
276 | A>D | No |
ClinGen gnomAD |
|
|
CA401953795 rs1381207077 |
278 | I>V | No |
ClinGen TOPMed |
|
|
RCV000429519 RCV001796041 CA8896646 rs200759046 |
281 | T>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA401953776 rs1317339894 |
281 | T>R | No |
ClinGen TOPMed |
|
|
CA401953778 rs200759046 |
281 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401953767 rs763429903 |
283 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758696616 COSM1182166 RCV000197308 CA321759 |
283 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1234626438 CA401953758 |
285 | M>L | No |
ClinGen gnomAD |
|
|
rs1057524764 RCV000436350 CA16607548 |
285 | M>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1037656742 CA296706735 |
287 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
RCV000992837 rs1598833620 CA401953735 |
288 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA401953727 rs748162809 |
289 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776289671 CA8896641 |
290 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs534930122 CA296706709 |
290 | S>I | No |
ClinGen TOPMed |
|
|
rs534930122 CA296706718 |
290 | S>N | No |
ClinGen TOPMed |
|
|
CA296706695 rs779115725 |
290 | S>R | No |
ClinGen Ensembl |
|
|
CA8896639 rs532179680 |
292 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs773301900 CA8896638 |
297 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1435637180 CA401953674 |
298 | V>G | No |
ClinGen gnomAD |
|
|
rs772182556 CA8896637 |
299 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401953653 rs1430176783 |
301 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1262374549 CA401953649 |
302 | E>K | No |
ClinGen gnomAD |
|
|
rs369272247 CA296706654 |
303 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA401953634 rs1411437191 |
304 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 304 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 309 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA296706617 rs77620459 |
314 | E>G | No |
ClinGen TOPMed |
|
|
CA296706612 rs77620459 |
314 | E>V | No |
ClinGen TOPMed |
|
|
CA8896631 rs757352786 |
315 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8896632 rs781355221 |
315 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 319 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA16043026 RCV000413869 rs1057518024 |
322 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1568142469 CA401953487 |
325 | N>H | No |
ClinGen Ensembl |
|
|
rs758896120 CA8896628 |
328 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA401953418 rs1315266180 |
334 | Q>E | No |
ClinGen gnomAD |
|
|
rs1555672367 CA323324 |
338 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA401953322 rs1452894670 |
347 | T>A | No |
ClinGen TOPMed |
|
|
RCV000713014 rs1191222406 CA401953318 |
347 | T>S | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA401953321 rs1452894670 |
347 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 348 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1568141800 CA401953316 |
348 | G>S | No |
ClinGen Ensembl |
|
|
CA8896602 rs141642080 |
349 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555672209 CA323723 |
351 | G>D | No |
ClinGen Ensembl |
|
|
rs980194837 CA296705231 |
358 | A>P | No |
ClinGen Ensembl |
|
|
CA401953242 rs1598832612 |
360 | A>G | No |
ClinGen Ensembl |
|
|
CA401953246 rs751179511 |
360 | A>P | No |
ClinGen TOPMed |
|
|
CA296705227 rs751179511 |
360 | A>T | No |
ClinGen TOPMed |
|
|
CA401953231 rs1459875879 |
362 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 363 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769564788 CA8896597 |
363 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1598832590 CA401953221 |
364 | E>G | No |
ClinGen Ensembl |
|
|
rs773354745 CA8896595 |
364 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA401953210 rs1326471610 |
366 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs772075125 CA8896594 |
366 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs201766848 CA296705218 |
371 | T>A | No |
ClinGen 1000Genomes |
|
|
rs1297419090 CA401953165 |
373 | S>G | No |
ClinGen TOPMed |
|
|
rs1379327542 CA401953147 |
375 | S>F | No |
ClinGen gnomAD |
|
|
CA401953151 rs1453944727 |
375 | S>P | No |
ClinGen gnomAD |
|
|
rs778835119 CA8896592 |
378 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401953098 rs1568141724 |
382 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA16620662 rs1064795281 RCV000486261 |
385 | G>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA296705196 rs965616699 |
386 | P>A | No |
ClinGen TOPMed |
|
|
CA401953039 rs1412231167 |
390 | R>* | No |
ClinGen gnomAD |
|
|
CA8896563 rs757002208 |
390 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1191970934 CA401953005 |
395 | L>F | No |
ClinGen gnomAD |
|
|
rs902778804 CA296702621 |
396 | A>D | No |
ClinGen Ensembl |
|
|
CA10607087 rs886044707 RCV000391292 |
396 | A>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs777357028 CA401952997 |
397 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209733231 CA401952995 |
397 | R>Q | No |
ClinGen gnomAD |
|
|
rs777357028 CA8896560 |
397 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs955150348 CA296702616 |
399 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs955150348 CA401952984 |
399 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1480133333 CA401952974 |
400 | A>G | No |
ClinGen TOPMed |
|
|
rs757837635 CA8896559 |
401 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA8896558 RCV000996650 rs752662018 |
401 | P>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA296702595 rs975327072 |
404 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA8896557 rs148282611 |
404 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA401952953 rs975327072 |
404 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 410 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1598830386 CA401952891 RCV000996649 |
413 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1445430197 CA401952883 |
414 | R>K | No |
ClinGen gnomAD |
|
|
rs768858248 CA8896551 |
415 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8896549 rs775691919 |
418 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA296702557 rs200836923 |
419 | G>D | No |
ClinGen Ensembl |
|
|
rs772516038 CA296702545 |
424 | Q>H | No |
ClinGen TOPMed |
|
|
rs1216082158 CA401952804 |
426 | E>Q | No |
ClinGen TOPMed |
|
|
CA401952782 rs1168932758 |
428 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 428 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401952783 rs1400241931 |
428 | E>V | No |
ClinGen gnomAD |
|
|
CA401952757 RCV000521763 rs151344512 |
432 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1306713448 CA401952745 |
434 | L>M | No |
ClinGen TOPMed |
|
|
CA8896547 rs746376727 |
438 | M>T | No |
ClinGen ExAC |
|
|
rs1908311940 RCV001311897 |
444 | T>A | No |
ClinVar dbSNP |
|
|
RCV000992827 rs749105981 |
445 | T>missing | No |
ClinVar dbSNP |
|
|
rs754423066 CA8896519 |
445 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs368011609 CA8896516 |
448 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs773169376 RCV000713016 |
448 | V>missing | No |
ClinVar dbSNP |
|
|
CA401952560 rs1313757842 |
449 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 451 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA296701084 rs868044931 |
451 | A>V | No |
ClinGen gnomAD |
|
|
rs867453730 CA296701068 |
452 | G>D | No |
ClinGen Ensembl |
|
|
CA401952521 rs1419397227 |
452 | G>S | No |
ClinGen gnomAD |
|
|
CA401952479 RCV000999534 rs1378484093 |
455 | R>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA401952478 rs1378484093 |
455 | R>G | No |
ClinGen gnomAD |
|
|
rs756058528 CA8896514 |
459 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 460 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758755204 CA8896512 |
464 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs752910099 CA8896511 |
465 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA296701016 rs914992281 |
467 | G>E | No |
ClinGen TOPMed |
|
|
COSM986610 rs777218796 CA8896508 |
470 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA401952274 rs1233396292 |
474 | F>V | No |
ClinGen gnomAD |
|
|
rs753000167 CA8896493 |
484 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA8896491 rs549787555 |
486 | I>V | No |
ClinGen 1000Genomes |
|
|
CA296700853 rs779230346 |
487 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200110947 CA296700866 |
487 | F>L | No |
ClinGen 1000Genomes |
|
|
CA401952059 rs1294679535 |
488 | K>E | No |
ClinGen TOPMed |
|
|
rs755204659 CA8896489 |
488 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 490 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401952019 rs1301237417 |
491 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs753902034 CA8896488 |
492 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA401952000 rs1340859041 |
492 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs531301543 CA8896487 |
493 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA401951944 rs1267798105 |
497 | D>V | No |
ClinGen TOPMed |
|
|
rs1476692585 CA401951932 |
498 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1209681314 CA401951928 |
498 | S>N | No |
ClinGen TOPMed |
|
|
rs750868061 CA8896485 |
499 | T>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 501 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762123700 CA8896483 |
504 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1253449139 CA401951832 |
505 | L>* | No |
ClinGen gnomAD |
|
| TCGA novel | 506 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774012113 CA8896482 |
508 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8896480 rs762665023 |
510 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA401951769 rs762665023 |
510 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 511 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1598829248 CA401951751 |
511 | S>F | No |
ClinGen Ensembl |
|
|
RCV000440649 CA8896479 rs768121027 |
512 | L>F | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1005670966 RCV000489336 CA296700786 |
514 | P>S | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA8896478 rs769294488 |
518 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 520 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1438560243 CA401951624 |
521 | V>A | No |
ClinGen TOPMed |
|
|
CA401951616 rs1184287085 |
522 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 522 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1419934629 CA401951580 |
524 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA296698475 rs977495151 |
525 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs771842511 CA8896454 |
526 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA401951510 rs1438358338 |
529 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8896451 rs756205069 |
539 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401951341 rs1401264860 |
540 | I>V | No |
ClinGen TOPMed |
|
|
CA296698446 rs967110947 |
542 | Q>E | No |
ClinGen TOPMed |
|
|
rs745994921 CA8896450 |
542 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
RCV000440574 CA8896448 rs757821473 |
549 | I>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA401951203 rs1238111547 |
549 | I>V | No |
ClinGen gnomAD |
|
|
rs11553521 RCV000714233 |
550 | E>= | No |
ClinVar dbSNP |
|
|
CA401951177 rs11553521 |
550 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149121681 CA8896446 |
551 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752315700 CA8896445 |
553 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 554 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1339626496 CA401950126 |
556 | L>S | No |
ClinGen gnomAD |
|
|
CA401950039 rs1275856807 |
559 | K>R | No |
ClinGen gnomAD |
|
|
rs763265106 CA296694909 COSM158948 |
560 | T>M | NS Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1359236372 CA401949982 |
561 | Q>R | No |
ClinGen gnomAD |
|
|
CA401949967 rs552006318 |
562 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401949964 rs1598825342 |
562 | V>G | No |
ClinGen Ensembl |
|
|
rs552006318 CA8896425 |
562 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201510736 CA401949869 |
567 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8896423 rs758811358 |
569 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401949795 rs1598825323 |
570 | T>N | No |
ClinGen Ensembl |
|
|
rs1598825313 RCV000992828 |
571 | V>missing | No |
ClinVar dbSNP |
|
|
rs753148089 CA8896421 |
571 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1206676989 CA401949788 |
571 | V>L | No |
ClinGen TOPMed |
|
|
CA401949763 rs1269843321 |
572 | A>G | No |
ClinGen gnomAD |
|
|
CA296694866 rs562861748 |
572 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs562861748 CA8896420 |
572 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1442855643 CA401949662 |
577 | G>A | No |
ClinGen TOPMed |
|
|
CA8896418 RCV000713017 rs551042055 |
579 | A>V | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
COSM986609 rs760219294 CA8896416 |
580 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1481897707 CA401949543 |
584 | Y>C | No |
ClinGen gnomAD |
|
|
CA401949546 rs1598825277 |
584 | Y>D | No |
ClinGen Ensembl |
|
|
rs767536465 CA8896414 |
586 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs374828650 RCV000197062 CA321506 |
588 | A>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1598825243 CA401948686 |
589 | D>A | No |
ClinGen Ensembl |
|
|
rs1057524515 CA16608709 RCV000418471 |
594 | V>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1478579517 CA401947774 |
599 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1484572691 CA401947726 |
601 | K>R | No |
ClinGen gnomAD |
|
|
CA8896371 rs767666933 |
606 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8896368 rs749806446 |
607 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382874892 CA401947532 |
609 | L>F | No |
ClinGen gnomAD |
|
|
CA8896365 rs143133676 |
610 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 612 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401947451 rs1466468513 |
612 | E>D | No |
ClinGen gnomAD |
|
|
rs1329597848 CA401947436 |
613 | Q>E | No |
ClinGen TOPMed |
|
|
CA8896364 rs745569812 |
614 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA401947374 rs387906889 |
616 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401947383 rs1598822921 RCV000999533 |
616 | Y>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 620 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8896363 rs756912142 |
621 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA8896362 rs746562101 |
622 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA401947142 rs1303415632 |
626 | C>Y | No |
ClinGen TOPMed |
|
|
rs1907906987 RCV001311896 |
627 | M>L | No |
ClinVar dbSNP |
|
| TCGA novel | 628 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8896360 rs752570332 |
628 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA401947066 rs1482663054 |
629 | L>S | No |
ClinGen gnomAD |
|
|
rs1181983521 CA401947069 |
629 | L>V | No |
ClinGen gnomAD |
|
|
rs1421286434 CA401947055 |
630 | G>S | No |
ClinGen gnomAD |
|
|
CA401947015 rs1202345883 |
632 | R>* | No |
ClinGen gnomAD |
|
|
rs1320367366 CA401947012 |
632 | R>Q | No |
ClinGen gnomAD |
|
|
rs1255318384 CA401946961 |
635 | E>A | No |
ClinGen TOPMed |
|
|
rs1198529180 CA401946904 |
637 | I>M | No |
ClinGen gnomAD |
|
|
rs1598822875 CA401946901 |
638 | F>I | No |
ClinGen Ensembl |
|
|
CA401946748 rs1226952405 |
644 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA401946757 rs1318389235 |
644 | T>S | No |
ClinGen TOPMed |
|
|
CA8896355 rs762095994 |
647 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774638640 CA8896354 |
647 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1907903994 RCV001091987 |
650 | L>V | No |
ClinVar dbSNP |
|
|
rs1448905464 CA401946601 |
651 | R>K | No |
ClinGen gnomAD |
|
|
rs773323558 CA296692236 |
652 | K>R | No |
ClinGen Ensembl |
|
|
CA16620661 rs1064796804 RCV000482649 |
659 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000996648 CA401944435 RCV000516755 rs1555670564 |
662 | V>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs771230386 CA8896327 |
663 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA322720 rs1555670562 |
665 | G>V | No |
ClinGen Ensembl |
|
|
rs151344514 CA8896326 |
666 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs772809204 CA8896325 |
667 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA8896324 rs771589955 |
670 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1568133930 CA401944283 |
672 | Q>H | No |
ClinGen Ensembl |
|
|
rs747656097 CA8896323 |
673 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1159411980 CA401944259 |
674 | S>Y | No |
ClinGen gnomAD |
|
|
rs1907788208 RCV001288731 |
675 | F>L | No |
ClinVar dbSNP |
|
|
rs753122246 CA8896319 |
679 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401944182 rs1363377088 |
680 | Q>* | No |
ClinGen gnomAD |
|
|
rs369024207 CA8896318 |
681 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA401944160 rs1383634575 |
682 | D>N | No |
ClinGen gnomAD |
|
|
CA8896316 RCV000713018 rs751855138 |
683 | M>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA401944106 rs1164105639 |
685 | L>S | No |
ClinGen TOPMed |
|
|
CA401944096 rs1379716047 |
686 | E>Q | No |
ClinGen gnomAD |
|
|
rs797045221 CA208922 RCV001657978 RCV000194628 |
688 | P>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs765987297 CA319815 RCV000195472 |
689 | Y>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA401944027 rs1568133901 RCV000713019 |
690 | S>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8896314 rs764867109 |
692 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA8896315 rs764867109 |
692 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA296690297 rs936478675 |
692 | A>V | No |
ClinGen TOPMed |
|
|
rs1385150203 CA401943991 |
693 | T>A | No |
ClinGen TOPMed |
|
|
rs752790105 CA8896313 |
693 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA401943932 rs1283740247 |
697 | I>T | No |
ClinGen gnomAD |
|
|
rs1598820833 RCV000999532 CA401943925 |
698 | D>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA401943876 rs1598820822 RCV000999531 |
701 | V>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 701 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754307169 COSM181022 CA8896309 |
702 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA401943842 rs759124842 |
703 | I>M | No |
ClinGen gnomAD |
|
|
rs1363786303 CA401943854 |
703 | I>V | No |
ClinGen TOPMed |
|
|
rs915219018 CA296690266 |
705 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 706 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA296690262 rs375011339 |
706 | N>S | No |
ClinGen ESP |
|
|
rs766758709 CA8896308 |
707 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA8896304 rs771747701 |
710 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771747701 CA401943743 |
710 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399438718 COSM273913 CA401943732 |
711 | R>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1178428398 CA401943703 |
713 | V>G | No |
ClinGen gnomAD |
|
|
CA8896302 rs773790965 |
713 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs768153900 CA8896301 |
714 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768153900 CA296690241 COSM986605 |
714 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8896300 rs749184882 |
714 | A>V | No |
ClinGen ExAC |
|
| TCGA novel | 716 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 717 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401943654 rs1427649172 |
718 | E>Q | No |
ClinGen gnomAD |
|
|
CA296690238 rs959447081 |
721 | A>G | No |
ClinGen Ensembl |
|
|
CA401943596 rs1188983661 |
721 | A>T | No |
ClinGen gnomAD |
|
|
rs561135750 CA8896298 |
725 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA401943522 CA401943520 rs1444231167 |
725 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA401950945 rs1201134171 |
726 | V>L | No |
ClinGen TOPMed |
|
|
CA401950938 rs1206135897 |
727 | A>T | No |
ClinGen gnomAD |
|
|
rs532751601 CA8896247 |
728 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA401950931 rs1258415605 |
728 | L>R | No |
ClinGen TOPMed |
|
|
CA8896246 rs532751601 |
728 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 729 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8896245 rs752028185 RCV000523627 |
729 | L>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1440744464 CA401950921 |
730 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 732 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000908677 CA8896243 rs562544252 |
732 | E>G | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs752335461 COSM1182165 CA8896242 |
734 | E>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
TCGA novel CA401950889 rs1381673558 |
735 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA401950865 rs1568130549 |
738 | K>R | No |
ClinGen Ensembl |
|
| rs757726488 | 745 | L>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401950802 rs1270837132 |
747 | P>A | No |
ClinGen gnomAD |
|
|
rs764873565 CA8896239 |
747 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 748 | R>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA296683816 rs543969956 |
751 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8896237 rs543969956 |
751 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1051686753 CA296683813 |
752 | E>G | No |
ClinGen TOPMed |
|
|
rs1466831338 CA401950754 |
754 | S>C | No |
ClinGen gnomAD |
|
|
rs1373242929 CA401950751 |
755 | T>A | No |
ClinGen gnomAD |
|
|
CA8896235 rs760520565 |
756 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA325386 rs777855072 |
758 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763166296 CA8896233 |
763 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775647575 CA296683807 |
765 | S>I | No |
ClinGen ExAC TOPMed |
|
|
rs769883388 CA8896231 |
765 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs775647575 CA8896232 |
765 | S>T | No |
ClinGen ExAC TOPMed |
|
|
rs1432314136 CA401950652 |
769 | D>V | No |
ClinGen TOPMed |
|
|
CA8896230 rs745988988 |
770 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781129886 CA8896229 |
770 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs745988988 CA401950649 |
770 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA296683802 rs969327635 |
771 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8896227 rs117182113 |
772 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA296683797 rs1013647519 |
772 | L>P | No |
ClinGen Ensembl |
|
|
RCV000713020 rs1568130466 CA401950613 |
776 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 780 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1381991624 CA401950586 |
780 | N>Y | No |
ClinGen gnomAD |
|
|
CA323574 rs753450684 COSM1182164 RCV000199030 |
783 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA8896222 rs765789778 |
784 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA296683788 rs375358651 |
785 | K>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs760674564 CA8896221 |
785 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8896220 rs750261394 |
786 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs761546721 CA8896218 |
787 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1199201333 CA401950533 |
788 | E>* | No |
ClinGen TOPMed |
|
|
CA8896217 rs752878017 |
790 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1378945672 CA401950507 |
790 | P>S | No |
ClinGen TOPMed |
|
|
CA8896216 rs372136184 |
791 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 793 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401950424 rs1479807481 |
795 | V>A | No |
ClinGen gnomAD |
|
|
CA8896212 rs747587382 |
796 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs770852797 CA8896213 |
796 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs773545779 RCV000520927 CA8896211 |
798 | N>Q | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA8896210 rs772687780 |
798 | N>Y | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q9Y4W6
[MIM: 125630]: Vibratory urticaria (VBU)
An autosomal dominant disorder characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum. {ECO:0000269|PubMed:26841242}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant disorder characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum. {ECO:0000269|PubMed:26841242}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q9Y4W6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9Y4W6 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| m-AAA complex | Protease complex of the mitochondrial inner membrane that is involved in mitochondrial protein turnover and in processing of proteins imported into mitochondria. |
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| ATP-dependent peptidase activity | Catalysis of the hydrolysis of peptide bonds, driven by ATP hydrolysis. |
| metalloendopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions. |
| metallopeptidase activity | Catalysis of the hydrolysis of peptide bonds by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions. |
| unfolded protein binding | Binding to an unfolded protein. |
| zinc ion binding | Binding to a zinc ion (Zn). |
17 GO annotations of biological process
| Name | Definition |
|---|---|
| axonogenesis | De novo generation of a long process of a neuron, including the terminal branched region. Refers to the morphogenesis or creation of shape or form of the developing axon, which carries efferent (outgoing) action potentials from the cell body towards target cells. |
| calcium import into the mitochondrion | A process in which a calcium ion (Ca2+) is transported from the cytosol into the mitochondrial matrix. |
| cristae formation | The assembly of cristae, the inwards folds of the inner mitochondrial membrane. |
| membrane protein proteolysis | The proteolytic cleavage of a transmembrane protein leading to the release of its intracellular or ecto-domains. |
| mitochondrial calcium ion homeostasis | Any process involved in the maintenance of an internal steady state of calcium ions within the cytoplasm of a cell or between mitochondria and their surroundings. |
| mitochondrial fusion | Merging of two or more mitochondria within a cell to form a single compartment. |
| mitochondrial protein processing | The peptide cleavage of mitochondrial proteins, including cleavage contributing to their import. |
| muscle cell development | The process whose specific outcome is the progression of a muscle cell over time, from its formation to the mature structure. Muscle cell development does not include the steps involved in committing an unspecified cell to the muscle cell fate. |
| myelination | The process in which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier. |
| nerve development | The process whose specific outcome is the progression of a nerve over time, from its formation to the mature structure. |
| neuromuscular junction development | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a neuromuscular junction. |
| protein autoprocessing | Processing which a protein carries out itself. This involves actions such as the autolytic removal of residues to generate the mature form of the protein. |
| protein processing | Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. |
| protein-containing complex assembly | The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. |
| proteolysis | The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. |
| regulation of multicellular organism growth | Any process that modulates the frequency, rate or extent of growth of the body of an organism so that it reaches its usual body size. |
| righting reflex | A reflex process in which an animal immediately tries to turn over after being placed in a supine position. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q2KJI7 | AFG3L2 | AFG3-like protein 2 | Bos taurus (Bovine) | PR |
| Q9UQ90 | SPG7 | Paraplegin | Homo sapiens (Human) | PR |
| Q3ULF4 | Spg7 | Paraplegin | Mus musculus (Mouse) | PR |
| Q7TT47 | Spg7 | Paraplegin | Rattus norvegicus (Rat) | PR |
| Q8W585 | FTSH8 | ATP-dependent zinc metalloprotease FTSH 8, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAHRCLRLWG | RGGCWPRGLQ | QLLVPGGVGP | GEQPCLRTLY | RFVTTQARAS | RNSLLTDIIA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AYQRFCSRPP | KGFEKYFPNG | KNGKKASEPK | EVMGEKKESK | PAATTRSSGG | GGGGGGKRGG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KKDDSHWWSR | FQKGDIPWDD | KDFRMFFLWT | ALFWGGVMFY | LLLKRSGREI | TWKDFVNNYL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SKGVVDRLEV | VNKRFVRVTF | TPGKTPVDGQ | YVWFNIGSVD | TFERNLETLQ | QELGIEGENR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VPVVYIAESD | GSFLLSMLPT | VLIIAFLLYT | IRRGPAGIGR | TGRGMGGLFS | VGETTAKVLK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DEIDVKFKDV | AGCEEAKLEI | MEFVNFLKNP | KQYQDLGAKI | PKGAILTGPP | GTGKTLLAKA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TAGEANVPFI | TVSGSEFLEM | FVGVGPARVR | DLFALARKNA | PCILFIDEID | AVGRKRGRGN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FGGQSEQENT | LNQLLVEMDG | FNTTTNVVIL | AGTNRPDILD | PALLRPGRFD | RQIFIGPPDI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KGRASIFKVH | LRPLKLDSTL | EKDKLARKLA | SLTPGFSGAD | VANVCNEAAL | IAARHLSDSI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NQKHFEQAIE | RVIGGLEKKT | QVLQPEEKKT | VAYHEAGHAV | AGWYLEHADP | LLKVSIIPRG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KGLGYAQYLP | KEQYLYTKEQ | LLDRMCMTLG | GRVSEEIFFG | RITTGAQDDL | RKVTQSAYAQ |
| 670 | 680 | 690 | 700 | 710 | 720 |
| IVQFGMNEKV | GQISFDLPRQ | GDMVLEKPYS | EATARLIDDE | VRILINDAYK | RTVALLTEKK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ADVEKVALLL | LEKEVLDKND | MVELLGPRPF | AEKSTYEEFV | EGTGSLDEDT | SLPEGLKDWN |
| 790 | |||||
| KEREKEKEEP | PGEKVAN |