P53621
PR
Gene name |
COPA |
Protein name |
Coatomer subunit alpha |
Names |
Alpha-coat protein, Alpha-COP, HEP-COP, HEPCOP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1314 |
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
4 structures for P53621
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6PBG | X-ray | 172 A | A | 1-320 | PDB |
| 6TZT | X-ray | 306 A | B/D | 870-1224 | PDB |
| 6U3V | X-ray | 296 A | B/D | 835-1224 | PDB |
| AF-P53621-F1 | Predicted | AlphaFoldDB |
759 variants for P53621
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1647979140 RCV001221526 |
16 | S>N | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA343271689 RCV000805660 rs1252870201 |
84 | R>H | Variant assessed as Somatic; impact. Autoimmune interstitial lung disease-arthritis syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001226129 CA1198416 rs765391058 |
99 | T>M | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1198395 RCV001340984 rs377473059 |
111 | A>T | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001347974 rs1647631957 |
129 | C>R | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1647575840 RCV001225703 |
134 | H>Q | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000536391 CA1198364 rs57425682 |
146 | T>A | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs750764548 CA1198347 RCV000821480 |
170 | K>R | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs770815634 RCV001235032 |
188 | D>V | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs934972773 RCV001232980 CA31517997 |
206 | R>H | Variant assessed as Somatic; impact. Autoimmune interstitial lung disease-arthritis syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA343266882 rs1346948908 RCV001338005 |
217 | M>T | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1659391902 RCV001240514 |
227 | R>H | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000203296 rs864309710 CA339664 VAR_073844 |
230 | K>N | Autoimmune interstitial lung disease-arthritis syndrome AILJK; causes a defect in retrograde transport from the Golgi to the endoplasmic reticulum [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000180776 VAR_073845 CA334830 rs794727993 RCV003156081 |
233 | R>H | Autoimmune interstitial lung disease-arthritis syndrome AILJK [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1557868211 RCV000700608 CA343264564 |
239 | A>P | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001311658 rs1659063174 RCV001201798 |
240 | W>R | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1557868201 CA343264523 RCV000699254 |
241 | E>A | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs794727995 CA334834 VAR_073846 RCV000180778 |
241 | E>K | Autoimmune interstitial lung disease-arthritis syndrome AILJK; causes a defect in retrograde transport from the Golgi to the endoplasmic reticulum [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs794727994 VAR_073847 RCV000180777 CA334832 |
243 | D>G | Autoimmune interstitial lung disease-arthritis syndrome AILJK [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs143714109 RCV001230828 CA1198287 |
256 | V>I | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs143714109 RCV000797293 CA1198286 |
256 | V>L | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001308865 rs1659060523 |
258 | H>Y | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1198285 RCV000808488 rs773636602 |
260 | R>C | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
TCGA novel RCV001307151 rs1659059803 |
264 | I>V | Variant assessed as Somatic; impact. Autoimmune interstitial lung disease-arthritis syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs781647709 RCV000702689 CA1198263 |
288 | R>H | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1659021909 RCV001300665 |
292 | D>Y | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA31512865 rs145706918 RCV001221750 |
321 | R>Q | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001224246 CA1198235 rs569042047 |
324 | P>L | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000653106 rs115066135 CA1198234 |
332 | M>V | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1658978401 RCV001070141 |
357 | L>missing | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1198221 rs769060273 RCV001346517 |
358 | R>Q | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1465029263 RCV001054213 COSM898271 COSM1583643 CA343260460 |
358 | R>W | Variant assessed as Somatic; impact. endometrium Autoimmune interstitial lung disease-arthritis syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
rs764624600 RCV001212127 CA1198202 |
367 | N>S | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1658920265 RCV001064662 |
370 | Y>S | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1198173 RCV001245585 rs200604416 |
402 | S>F | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000653101 RCV003163005 rs559332322 CA1198147 |
407 | A>V | Autoimmune interstitial lung disease-arthritis syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001238497 rs150468408 CA1198121 |
439 | N>S | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs755754729 RCV001315858 CA1198120 |
441 | K>R | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001316301 CA343256201 rs1471394621 |
453 | C>R | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs766188508 RCV001065810 CA1198115 |
463 | N>S | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001048618 rs1658787005 |
466 | L>F | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002555859 rs773125884 CA1198113 RCV001066870 |
467 | R>Q | Autoimmune interstitial lung disease-arthritis syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000690663 CA1198111 rs761705607 |
469 | A>V | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1383766227 CA343255234 RCV001313619 |
486 | V>L | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen gnomAD ClinVar dbSNP |
|
rs1571158645 RCV000804934 CA343255068 |
491 | V>A | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs750319602 CA1198096 RCV001244910 |
494 | V>I | Variant assessed as Somatic; 0.0 impact. Autoimmune interstitial lung disease-arthritis syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs764189695 RCV001342596 CA1198092 |
502 | H>R | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA1198054 rs755234198 RCV001220714 |
529 | R>H | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA1198049 RCV001203158 rs779383710 |
540 | V>I | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1658752272 RCV001342507 |
544 | T>N | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001482876 rs777038735 CA1198029 |
572 | R>W | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001312435 rs1032077330 CA31537068 |
591 | T>N | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001345163 rs1658504046 |
617 | N>D | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002561153 CA1198005 rs539596065 RCV001204308 |
625 | I>V | Autoimmune interstitial lung disease-arthritis syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001047531 rs746774599 |
648 | R>L | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs932482882 RCV001222176 CA31536922 |
654 | E>D | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001242310 rs1014100360 CA31536336 |
662 | L>V | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1197974 rs147312908 RCV000931364 |
672 | N>I | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001245397 rs1658458280 |
696 | R>C | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM898262 CA31536270 rs555657245 RCV001041190 COSM1583650 |
717 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium Autoimmune interstitial lung disease-arthritis syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA31536266 rs1051839166 RCV001207523 |
717 | R>H | Variant assessed as Somatic; 0.0 impact. Autoimmune interstitial lung disease-arthritis syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs763748181 CA1197945 RCV001224590 |
745 | R>C | Variant assessed as Somatic; 0.0 impact. Autoimmune interstitial lung disease-arthritis syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001051396 rs138441444 CA1197944 |
745 | R>H | Variant assessed as Somatic; 9.24e-05 impact. Autoimmune interstitial lung disease-arthritis syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs759567454 CA1197941 RCV001067876 |
747 | R>Q | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001225183 rs941514851 CA31535426 |
758 | A>G | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001305722 rs766436110 CA1197922 |
759 | Y>C | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001327177 rs1658403444 |
766 | G>C | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000653103 rs1334352247 CA343276751 |
772 | E>K | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA1197920 RCV000818396 rs750280942 |
773 | S>R | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001224018 rs1658401288 |
783 | E>D | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs765186480 RCV001858781 RCV000994150 CA1197901 |
789 | D>E | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA1197898 RCV001055127 rs145664652 |
793 | K>N | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000695311 rs1557861270 CA343276348 |
800 | P>S | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1197891 RCV000966765 rs199630217 |
807 | N>T | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs144241395 RCV000892961 CA1197870 |
828 | G>E | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000653102 rs778952692 RCV002534193 CA1197863 |
840 | V>A | Autoimmune interstitial lung disease-arthritis syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000531066 CA1197861 rs143115096 |
844 | G>D | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs777487139 CA1197860 RCV001038913 |
846 | G>R | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
TCGA novel RCV001215146 rs1658346694 |
847 | E>K | Variant assessed as Somatic; impact. Autoimmune interstitial lung disease-arthritis syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
CA31534476 rs540161688 RCV000696878 RCV002533467 |
859 | V>L | Autoimmune interstitial lung disease-arthritis syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs575105119 RCV001043472 CA1197813 |
894 | I>T | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1370641046 CA343275136 RCV001331214 |
894 | I>V | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs139398871 CA1197812 RCV000653109 |
895 | S>A | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201089543 CA1197811 RCV001210425 |
897 | G>E | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs764620128 RCV000653100 CA1197806 |
909 | P>S | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001347065 rs1658305088 |
911 | T>A | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs751116790 RCV001040503 |
917 | T>P | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001204354 rs1658297298 |
922 | N>S | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1658296082 RCV001050736 |
935 | S>C | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs552778606 RCV001257135 RCV002570617 CA1197773 |
937 | E>K | Autoimmune interstitial lung disease-arthritis syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001319851 CA1197768 rs368690601 |
941 | R>Q | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs781560092 CA1197745 RCV001054006 |
964 | A>T | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001301035 rs1658261376 |
992 | L>V | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1658260963 RCV001338482 |
994 | N>S | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA343272399 rs761236399 RCV001345673 |
1009 | R>Q | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs764570410 RCV001234118 CA1197708 |
1009 | R>W | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001300740 rs780158500 CA1197697 |
1047 | I>T | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs369330981 RCV001246179 CA1197681 |
1051 | Q>E | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA1197675 RCV000707289 rs138625189 RCV002532866 |
1062 | V>L | Autoimmune interstitial lung disease-arthritis syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs141211632 CA1197667 RCV001299171 |
1083 | R>H | Variant assessed as Somatic; 0.0 impact. Autoimmune interstitial lung disease-arthritis syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs763192047 RCV001323857 CA1197649 |
1094 | S>L | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM898259 rs776528615 RCV000788589 CA1197639 RCV001061573 |
1127 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium Autoimmune interstitial lung disease-arthritis syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA343269358 RCV001314341 rs1389932827 |
1141 | T>I | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001050159 CA1197618 rs768877876 |
1142 | R>Q | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1265302722 RCV001228687 CA343269077 |
1184 | K>N | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1322429024 RCV001229163 CA343268229 |
1217 | R>K | Autoimmune interstitial lung disease-arthritis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA1198496 rs746130948 |
3 | T>A | No |
ClinGen ExAC |
|
| TCGA novel | 8 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1282039866 CA343274097 |
10 | A>V | No |
ClinGen TOPMed |
|
|
CA1198495 rs201864262 |
12 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1571188855 CA343273601 |
16 | S>R | No |
ClinGen Ensembl |
|
|
rs756792974 CA31528170 |
20 | K>R | No |
ClinGen Ensembl |
|
|
rs1248657045 CA343273526 |
22 | P>T | No |
ClinGen gnomAD |
|
|
rs1419799952 CA343273515 |
23 | W>R | No |
ClinGen gnomAD |
|
|
rs773311842 CA1198473 |
23 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA343273479 rs1357644593 |
24 | I>T | No |
ClinGen TOPMed |
|
|
CA1198472 rs770255553 |
28 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs748704153 CA1198471 |
31 | G>R | No |
ClinGen ExAC |
|
| TCGA novel | 32 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1466315807 CA343273359 |
32 | V>I | No |
ClinGen gnomAD |
|
|
CA343273339 rs1269263382 |
33 | I>V | No |
ClinGen gnomAD |
|
|
rs1557877905 CA343273292 |
35 | L>S | No |
ClinGen Ensembl |
|
|
CA343273262 rs1294976871 |
37 | D>G | No |
ClinGen TOPMed |
|
|
rs747408205 CA1198468 |
39 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs755405751 CA343273233 |
39 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1246060887 CA343273193 |
41 | C>F | No |
ClinGen gnomAD |
|
|
CA31528140 rs200362589 |
41 | C>R | No |
ClinGen Ensembl |
|
| TCGA novel | 42 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 42 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1198466 rs756952972 |
48 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1347596037 CA343273036 |
49 | E>D | No |
ClinGen TOPMed |
|
|
COSM380772 rs749016135 CA1198445 |
56 | G>D | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA343272917 rs1474470074 |
56 | G>S | No |
ClinGen gnomAD |
|
|
CA1198444 rs777406755 |
57 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA343272886 rs1571188484 |
58 | D>A | No |
ClinGen Ensembl |
|
|
rs1571188478 CA343272838 |
60 | H>Q | No |
ClinGen Ensembl |
|
|
rs1349528889 CA343272829 |
61 | K>R | No |
ClinGen gnomAD |
|
|
CA1198443 rs755750300 |
62 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs754974131 CA1198440 |
74 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs776753681 CA1198439 |
75 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs905723655 CA31526104 |
77 | V>G | No |
ClinGen Ensembl |
|
|
rs1440253183 CA343271749 |
80 | Y>H | No |
ClinGen gnomAD |
|
|
CA343271696 rs1414048052 |
83 | R>Q | No |
ClinGen gnomAD |
|
|
COSM1583637 CA343271699 COSM898277 rs1334910023 |
83 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA31526101 rs147931821 |
84 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1162024233 CA343271654 |
85 | C>Y | No |
ClinGen gnomAD |
|
|
rs1411644974 CA343271613 |
88 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1411644974 CA343271608 |
88 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1459601247 CA343271475 |
94 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 95 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs919181244 CA31526087 |
97 | R>H | No |
ClinGen TOPMed |
|
|
CA1198413 rs200420166 |
103 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1287643455 CA343270418 |
108 | I>T | No |
ClinGen gnomAD |
|
|
rs1419177728 CA343270402 |
109 | L>Q | No |
ClinGen TOPMed |
|
|
CA343270365 rs1288664325 |
111 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 114 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 115 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750910511 CA31522936 |
118 | R>Q | No |
ClinGen Ensembl |
|
|
rs1802778 CA343270180 CA343270177 |
121 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201795593 CA31522919 |
122 | W>R | No |
ClinGen 1000Genomes |
|
|
rs1283009687 CA343270140 |
123 | Q>L | No |
ClinGen TOPMed |
|
|
rs1417234096 CA343270051 |
128 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1215896211 CA343269870 |
130 | V>A | No |
ClinGen TOPMed |
|
|
rs1352741369 CA343269768 |
135 | N>S | No |
ClinGen gnomAD |
|
|
rs1390435268 CA343269565 CA343269567 |
143 | F>L | No |
ClinGen gnomAD |
|
|
rs879800167 CA31522406 |
145 | P>S | No |
ClinGen gnomAD |
|
|
CA31522382 rs538962895 |
146 | T>R | No |
ClinGen Ensembl |
|
|
CA1198365 rs57425682 |
146 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM463253 CA31522379 rs375088629 |
148 | D>E | kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed |
|
CA343269470 rs1174210182 |
151 | V>A | No |
ClinGen gnomAD |
|
|
rs138151800 COSM110343 CA31522372 |
157 | Q>P | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs371954050 CA31522369 |
158 | T>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs763758170 CA1198363 |
159 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA343269415 rs1181245936 |
160 | R>H | No |
ClinGen gnomAD |
|
|
rs138387946 CA1198360 |
161 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| VAR_066525 | 164 | I>V | RNA edited version [UniProt] | No | UniProt |
|
CA343268187 rs1424434292 |
166 | G>A | No |
ClinGen gnomAD |
|
|
rs745804176 CA1198359 |
166 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1424434292 CA343268183 |
166 | G>V | No |
ClinGen gnomAD |
|
|
rs1242581995 CA343268125 |
169 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 171 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 176 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1198346 rs375464084 |
176 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752416801 CA1198344 |
177 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA1198343 COSM1583640 COSM898276 rs767163438 |
179 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs552548810 CA1198341 |
180 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1365755608 CA343267382 |
184 | I>M | No |
ClinGen gnomAD |
|
|
rs1436730815 CA343267393 |
184 | I>V | No |
ClinGen gnomAD |
|
|
CA1198340 rs770815634 |
188 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA31518882 rs949278544 |
192 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA343267288 rs1389774554 |
193 | T>I | No |
ClinGen gnomAD |
|
|
CA31518873 rs917872826 |
195 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 196 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343267244 rs1161674313 |
197 | V>L | No |
ClinGen gnomAD |
|
|
CA343267197 rs1368139056 |
201 | L>V | No |
ClinGen gnomAD |
|
|
rs1474704915 CA343267093 |
203 | G>S | No |
ClinGen gnomAD |
|
|
CA343267066 rs1200514688 |
205 | D>N | No |
ClinGen gnomAD |
|
|
rs542220939 CA1198326 |
207 | G>V | No |
ClinGen 1000Genomes ExAC |
|
|
rs754216820 CA1198325 |
211 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1198324 rs141575695 |
211 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA31517988 rs997711747 |
213 | F>S | No |
ClinGen TOPMed |
|
|
CA343266943 rs1206893280 |
214 | H>N | No |
ClinGen gnomAD |
|
|
CA1198323 rs759218973 |
215 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA343266905 rs1571174245 |
215 | P>L | No |
ClinGen Ensembl |
|
|
rs530428285 CA1198322 |
216 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs530428285 CA343266898 |
216 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs967646112 CA343266863 RCV000788651 |
218 | P>H | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs967646112 CA31517970 |
218 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA343266848 rs1464389529 |
219 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
rs765857144 CA1198321 |
220 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1222654299 CA343266841 |
220 | I>V | No |
ClinGen gnomAD |
|
|
CA31517962 rs866914374 |
223 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 224 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343266686 rs1210377236 |
229 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA343266651 rs1328188785 |
231 | I>M | No |
ClinGen gnomAD |
|
|
RCV000487939 rs1064797123 CA16621579 |
238 | K>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA343264544 rs1336130041 |
239 | A>V | No |
ClinGen TOPMed |
|
|
rs1571165829 CA343264461 |
244 | T>P | No |
ClinGen Ensembl |
|
|
CA343264418 rs1406768494 |
246 | R>Q | No |
ClinGen gnomAD |
|
|
rs757787397 CA1198301 |
247 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA343264340 rs1224155447 |
250 | N>S | No |
ClinGen TOPMed |
|
|
rs749970594 CA1198300 |
251 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1198298 rs761879662 |
252 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772355435 CA1198293 |
254 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs760978441 CA1198294 |
254 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA1198292 rs772355435 |
254 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1198290 rs138359166 |
255 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343264195 rs1283789812 |
255 | A>V | No |
ClinGen gnomAD |
|
|
rs1315746682 CA343264186 |
256 | V>A | No |
ClinGen gnomAD |
|
|
rs143714109 CA1198288 |
256 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343264142 rs1571165747 |
258 | H>P | No |
ClinGen Ensembl |
|
| TCGA novel | 259 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343264081 COSM1335504 rs1381216320 COSM1335505 |
260 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs896993360 CA31513974 |
261 | Q>R | No |
ClinGen Ensembl |
|
|
CA1198283 rs779522642 |
263 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs370326354 CA1198282 |
271 | K>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1198281 rs749865699 |
271 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA343263761 rs370326354 |
271 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA343263727 rs1372666467 |
273 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 274 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292754877 CA343263702 |
274 | R>Q | No |
ClinGen TOPMed |
|
|
rs1391925212 CA343263553 |
278 | M>I | No |
ClinGen gnomAD |
|
|
COSM898272 CA343263402 rs1485520703 COSM1583642 |
281 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM1639580 rs1380526285 COSM1639579 CA343263405 |
281 | R>W | large_intestine Variant assessed as Somatic; impact. stomach [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA1198264 rs748420244 |
288 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1269837355 CA343262517 |
289 | R>K | No |
ClinGen gnomAD |
|
|
CA343262434 rs1253097566 |
293 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1203788881 CA343262357 |
298 | A>D | No |
ClinGen TOPMed |
|
|
CA343262364 rs1481905837 |
298 | A>T | No |
ClinGen TOPMed |
|
|
rs771598938 CA1198262 |
299 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1198261 rs188927828 |
301 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs188927828 CA31513461 |
301 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs188927828 CA343262320 |
301 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1413004674 CA343262298 |
302 | N>K | No |
ClinGen TOPMed |
|
|
rs1225712656 CA343262306 |
302 | N>T | No |
ClinGen gnomAD |
|
|
CA31513457 rs912775813 |
302 | N>Y | No |
ClinGen TOPMed |
|
|
rs778278962 CA1198260 |
305 | L>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 306 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343262236 rs1571164778 |
306 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 306 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199749855 CA31513450 |
307 | A>T | No |
ClinGen 1000Genomes |
|
|
CA343262184 rs1166658781 |
308 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 309 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343261950 rs1312536678 |
310 | H>R | No |
ClinGen TOPMed |
|
|
CA343261846 rs1246313874 |
313 | G>S | No |
ClinGen TOPMed |
|
|
rs1348886837 CA343261792 |
314 | M>T | No |
ClinGen gnomAD |
|
|
rs1339367807 CA343261577 |
320 | E>Q | No |
ClinGen TOPMed |
|
|
COSM1165460 CA1198237 COSM1165461 rs747456372 |
321 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1571163759 CA343261456 |
322 | E>D | No |
ClinGen Ensembl |
|
|
CA1198236 rs778654265 |
323 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA343261441 rs1481608457 |
323 | R>W | No |
ClinGen TOPMed |
|
|
rs1179878213 CA343261334 |
327 | A>T | No |
ClinGen TOPMed |
|
|
rs756101024 CA1198232 CA31512845 |
332 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1044346568 CA31512846 |
332 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA1198233 rs115066135 |
332 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1198231 CA343261182 rs752737520 |
334 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM2085609 rs1314783058 CA343261153 COSM2085608 |
335 | Y>C | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1198230 rs780845772 |
335 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs766546034 CA343260979 |
339 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs766546034 CA1198227 |
339 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1171308899 CA343260955 |
340 | F>V | No |
ClinGen TOPMed |
|
|
rs559780460 CA343260898 |
342 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA343260889 rs1383673960 |
342 | R>L | No |
ClinGen gnomAD |
|
|
rs1383673960 CA343260894 |
342 | R>Q | No |
ClinGen gnomAD |
|
|
rs1356777574 CA343260877 |
343 | Q>H | No |
ClinGen TOPMed |
|
|
rs750476340 CA1198225 |
350 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs765356400 CA1198224 |
352 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs369659861 CA1198222 |
354 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369659861 CA1198223 |
354 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA343260512 rs1445372702 |
356 | Q>L | No |
ClinGen gnomAD |
|
|
CA343260458 rs769060273 |
358 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343260194 rs1380599883 |
361 | S>C | No |
ClinGen TOPMed |
|
|
CA343260167 rs1317770746 |
363 | F>L | No |
ClinGen TOPMed |
|
|
rs775976072 CA1198200 |
368 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs761130880 CA1198201 |
368 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 376 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762692575 CA1198197 |
377 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1345125838 CA343259802 |
380 | C>R | No |
ClinGen gnomAD |
|
|
CA1198177 rs139316633 |
382 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1198176 rs776191448 |
387 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1198175 rs768113879 |
390 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs760179251 CA343258523 CA1198174 |
392 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343258515 rs1469662014 |
393 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA31511531 rs867879809 |
394 | Y>C | No |
ClinGen TOPMed |
|
|
rs1422591654 CA343258447 |
395 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 397 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1334993093 CA343258422 |
397 | P>L | No |
ClinGen TOPMed |
|
|
CA1198172 rs772015523 |
405 | P>R | No |
ClinGen ExAC |
|
| rs748206343 | 407 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745626021 CA1198171 |
407 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA343257691 rs1432007406 |
408 | P>L | No |
ClinGen gnomAD |
|
|
CA1198145 rs781468885 |
408 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs755528420 CA1198144 |
409 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA343257585 rs1426201132 |
412 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 413 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343257507 rs1365609152 |
414 | S>L | No |
ClinGen gnomAD |
|
|
CA343257486 rs1175454725 |
415 | G>V | No |
ClinGen TOPMed |
|
|
rs1289638530 CA343257396 |
419 | V>G | No |
ClinGen TOPMed |
|
|
rs750819605 CA1198140 |
419 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750819605 CA343257407 |
419 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760363546 CA343257315 |
422 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1198138 rs760363546 |
422 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191727728 CA343257291 |
423 | R>* | No |
ClinGen gnomAD |
|
|
CA343257289 COSM1162637 COSM1162638 rs1385335743 |
423 | R>Q | pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA343257250 rs1490907370 |
424 | N>S | No |
ClinGen gnomAD |
|
|
rs767077238 CA1198136 |
425 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA1198137 rs767077238 |
425 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM1335500 rs1292511645 CA343257212 COSM1335501 |
425 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA343257097 rs1348698944 |
430 | D>N | No |
ClinGen TOPMed |
|
|
CA31510635 rs759516454 |
431 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199634303 CA1198134 |
431 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1198135 COSM1127304 rs759516454 |
431 | R>W | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1198133 rs766354950 |
433 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs769707936 CA1198132 |
434 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 434 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1300223116 CA343256844 |
435 | L>I | No |
ClinGen gnomAD |
|
|
rs866696447 CA31510219 |
441 | K>N | No |
ClinGen Ensembl |
|
|
rs182089734 CA31510215 |
445 | T>A | No |
ClinGen 1000Genomes |
|
|
rs752416966 CA1198119 |
446 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1198118 rs202149494 |
447 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 447 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343256402 rs1181728026 |
448 | V>I | No |
ClinGen TOPMed |
|
|
rs1338446005 CA343256342 |
449 | Q>P | No |
ClinGen gnomAD |
|
|
rs975489764 CA31510202 |
451 | P>S | No |
ClinGen TOPMed |
|
|
CA343256131 rs1470175981 |
454 | D>H | No |
ClinGen gnomAD |
|
|
rs1160919568 CA343256010 |
457 | F>Y | No |
ClinGen TOPMed |
|
|
CA1198117 rs754389311 |
458 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1431687560 CA343255960 |
459 | A>G | No |
ClinGen gnomAD |
|
|
CA1198116 rs751104177 |
462 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 462 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1234168415 CA343255747 CA343255749 |
470 | D>E | No |
ClinGen TOPMed |
|
|
rs769017937 CA1198109 |
470 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1307001526 CA343255730 |
472 | I>V | No |
ClinGen gnomAD |
|
|
rs747017917 CA1198108 |
477 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772438383 CA1198106 |
481 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs775676631 CA1198107 |
481 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758263655 CA1198097 |
482 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1310306663 CA343255243 |
485 | S>P | No |
ClinGen gnomAD |
|
|
CA31509767 rs777962884 |
489 | S>A | No |
ClinGen Ensembl |
|
|
rs12060052 CA31509758 |
489 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 493 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs565864826 CA1198095 |
495 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA343254861 rs1330712595 |
497 | S>L | No |
ClinGen TOPMed |
|
|
rs753713949 CA1198093 CA343254795 |
500 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA31509721 rs376690561 |
500 | M>T | No |
ClinGen ESP |
|
|
rs915941420 CA31509683 |
503 | V>I | No |
ClinGen Ensembl |
|
|
CA343254717 rs1209776560 |
505 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1198090 rs369175977 |
507 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA343254651 rs772265510 |
509 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1198088 rs759621411 |
510 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1198066 rs770129453 |
510 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs748475372 CA1198065 |
512 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA343254409 rs1234016897 |
513 | I>V | No |
ClinGen gnomAD |
|
|
rs779704582 CA1198064 |
515 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141240745 CA31509545 |
516 | R>C | No |
ClinGen ESP gnomAD |
|
|
CA343254355 rs1431254362 |
516 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs771878020 CA1198063 |
518 | L>V | No |
ClinGen ExAC |
|
|
rs778613191 CA1198061 |
520 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1198060 rs187547429 |
521 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1198059 rs753896321 |
522 | C>R | No |
ClinGen ExAC gnomAD |
|
|
COSM3802484 rs1172763825 CA343254204 COSM3802483 |
524 | I>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs372637241 CA1198057 |
525 | H>L | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 525 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1198055 rs767740500 |
529 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1198053 rs751618999 |
530 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs763024574 CA1198051 |
532 | S>T | No |
ClinGen ExAC |
|
|
CA343253997 rs1263561347 |
534 | A>S | No |
ClinGen gnomAD |
|
|
rs1263561347 CA343254000 |
534 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs773709874 CA1198050 |
536 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1292366705 CA343253901 |
538 | S>N | No |
ClinGen TOPMed |
|
|
rs956728750 CA343253868 |
539 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA31509481 rs956728750 |
539 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1356396327 CA343253876 |
539 | G>R | No |
ClinGen TOPMed |
|
|
rs369979999 CA1198048 |
542 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1198047 rs145564896 |
543 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs76641602 CA1198045 |
553 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA31509464 rs573165317 |
554 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 555 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758422851 CA343281304 |
558 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1023233419 CA31537112 |
559 | G>R | No |
ClinGen gnomAD |
|
|
rs750496001 COSM3418212 COSM3418211 CA1198032 |
562 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA343281250 rs1359293665 |
564 | L>V | No |
ClinGen gnomAD |
|
|
CA1198031 rs372448983 |
567 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA343281215 rs1156311349 |
567 | P>T | No |
ClinGen gnomAD |
|
|
CA343281189 rs1234929314 |
568 | I>M | No |
ClinGen TOPMed |
|
|
rs762273358 CA1198030 |
569 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs762273358 CA343281178 |
569 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1162410358 CA343281168 |
570 | V>I | No |
ClinGen gnomAD |
|
|
rs764622211 CA1198028 |
572 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1019251978 CA31537086 |
573 | V>M | No |
ClinGen TOPMed |
|
|
CA31537085 rs1007906183 |
577 | N>S | No |
ClinGen TOPMed |
|
|
rs774090398 CA1198026 |
579 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1238576 COSM1238577 rs368055100 CA1198023 |
583 | R>G | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA343280927 rs1291284170 |
585 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA31537081 COSM381266 rs757143045 |
586 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs145861956 CA1198022 |
586 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1272309771 CA343280907 |
587 | P>T | No |
ClinGen gnomAD |
|
|
CA343280891 rs1214923127 |
588 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs751473108 CA31537069 |
588 | R>Q | No |
ClinGen TOPMed |
|
|
rs1214923127 CA343280889 |
588 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs762223365 CA1198021 |
592 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA343280834 rs1400161197 |
592 | I>V | No |
ClinGen gnomAD |
|
|
rs1295798485 CA343280707 |
599 | F>L | No |
ClinGen gnomAD |
|
|
CA343280677 rs1215963235 |
600 | K>M | No |
ClinGen TOPMed |
|
|
rs1406294779 CA343280669 |
601 | L>V | No |
ClinGen gnomAD |
|
|
CA31537061 rs999410882 |
602 | A>V | No |
ClinGen TOPMed |
|
|
CA343280610 rs1403560888 |
604 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1163944622 CA343280621 |
604 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 605 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343280587 rs1421317683 |
606 | R>G | No |
ClinGen gnomAD |
|
|
CA1198019 rs777845758 |
609 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343280532 rs1423249244 |
610 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| rs1434130898 | 611 | V>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1307775575 CA343280500 |
613 | H>P | No |
ClinGen TOPMed |
|
|
CA343280503 rs1331770477 |
613 | H>Y | No |
ClinGen gnomAD |
|
|
rs766102154 CA1198007 |
614 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs762565847 CA1198006 |
615 | V>M | No |
ClinGen ExAC |
|
|
rs1318746070 CA343280457 |
619 | K>R | No |
ClinGen TOPMed |
|
|
CA343280372 rs1169847660 |
632 | K>E | No |
ClinGen gnomAD |
|
|
rs769256606 CA1198004 |
635 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA343280338 rs1435149409 |
637 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 641 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA31536938 rs1049665620 |
648 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs746774599 CA1198001 |
648 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746774599 CA1198000 |
648 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343280253 rs1457569844 |
649 | F>C | No |
ClinGen gnomAD |
|
|
CA343280257 rs1199630800 |
649 | F>L | No |
ClinGen gnomAD |
|
|
CA1197997 rs746141698 |
650 | S>N | No |
ClinGen ExAC |
|
|
CA1197998 rs772323112 |
650 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA343280243 rs1412145355 |
651 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1197996 rs528466335 |
658 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA31536350 rs1024535818 |
661 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA343279893 rs1385609289 |
665 | A>P | No |
ClinGen TOPMed |
|
|
CA343279862 rs1314595703 |
666 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1380121466 CA343279768 |
670 | D>E | No |
ClinGen gnomAD |
|
|
CA31536333 rs776425202 |
671 | K>R | No |
ClinGen TOPMed |
|
|
CA343279657 rs1305920090 |
675 | E>G | No |
ClinGen TOPMed |
|
|
rs1441993634 CA343279666 |
675 | E>K | No |
ClinGen TOPMed |
|
|
CA31536319 rs1041959480 |
683 | L>V | No |
ClinGen TOPMed |
|
|
rs112109460 CA343279443 |
685 | G>R | No |
ClinGen Ensembl |
|
|
rs112109460 CA31536316 |
685 | G>W | No |
ClinGen Ensembl |
|
| TCGA novel | 688 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343279362 rs376444376 |
690 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376444376 CA1197971 |
690 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1379060735 CA343279297 |
693 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 695 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373887625 CA1197970 |
696 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343279252 rs373887625 |
696 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343279217 rs1255936881 |
698 | K>R | No |
ClinGen gnomAD |
|
|
rs751981710 CA1197968 |
699 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA1197967 CA343279190 rs764761582 |
699 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343279199 rs1252834280 |
699 | N>T | No |
ClinGen TOPMed |
|
|
CA343279176 rs1193812788 |
700 | F>C | No |
ClinGen TOPMed |
|
|
rs946260744 CA31536279 |
702 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 703 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1263191116 CA343279081 |
706 | L>P | No |
ClinGen gnomAD |
|
|
rs1267191574 CA343279004 |
712 | N>D | No |
ClinGen gnomAD |
|
|
rs912164380 CA31536271 |
712 | N>S | No |
ClinGen TOPMed |
|
|
CA343278983 rs1284877622 |
714 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA343278930 rs1051839166 |
717 | R>L | No |
ClinGen gnomAD |
|
|
CA1197965 rs555657245 |
717 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162516358 CA343278908 |
720 | M>T | No |
ClinGen TOPMed |
|
|
rs932156999 CA31536264 |
721 | K>N | No |
ClinGen Ensembl |
|
|
CA1197964 rs763658574 |
722 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 726 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1571152149 CA343278721 |
727 | K>M | No |
ClinGen Ensembl |
|
|
rs1303515989 CA343278677 |
729 | M>I | No |
ClinGen gnomAD |
|
|
CA343278607 rs1390727057 |
733 | Y>C | No |
ClinGen gnomAD |
|
|
CA343278605 rs1390727057 |
733 | Y>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA343278555 rs1324287086 |
736 | A>S | No |
ClinGen gnomAD |
|
|
CA1197946 rs753420955 |
743 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs767326556 CA1197942 |
747 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA343278354 rs1257209835 |
749 | L>M | No |
ClinGen gnomAD |
|
|
CA343278330 rs1557861801 |
751 | N>H | No |
ClinGen Ensembl |
|
|
rs1198179371 CA343278322 |
752 | C>R | No |
ClinGen gnomAD |
|
|
CA343278305 rs1337700856 |
754 | Q>R | No |
ClinGen gnomAD |
|
|
CA343278300 rs1257826486 |
755 | K>E | No |
ClinGen gnomAD |
|
|
CA1197924 rs754871731 |
756 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1197923 rs751449627 |
757 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA343276937 rs941514851 |
758 | A>V | No |
ClinGen TOPMed |
|
|
CA343276922 rs766436110 |
759 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 760 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1231813336 CA343276879 |
764 | T>I | No |
ClinGen TOPMed |
|
|
CA343276779 rs1571151126 |
770 | E>A | No |
ClinGen Ensembl |
|
|
rs762792902 CA343276768 |
771 | A>P | No |
ClinGen ExAC |
|
|
CA1197921 rs762792902 |
771 | A>T | No |
ClinGen ExAC |
|
|
rs74125574 CA1197919 |
773 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs913037992 CA31535390 |
777 | T>I | No |
ClinGen Ensembl |
|
|
CA343276458 rs1162505662 |
786 | P>S | No |
ClinGen gnomAD |
|
|
CA31535292 rs1006500981 |
788 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA343276410 rs1571150894 |
789 | D>A | No |
ClinGen Ensembl |
|
|
rs1195901074 CA343276414 |
789 | D>H | No |
ClinGen gnomAD |
|
|
CA31535290 rs951046768 |
790 | P>S | No |
ClinGen Ensembl |
|
|
rs1214197748 CA343276394 |
791 | N>K | No |
ClinGen gnomAD |
|
|
rs1314405901 CA343276389 |
792 | A>G | No |
ClinGen TOPMed |
|
|
rs761517421 CA1197900 |
793 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1197899 rs201804449 |
793 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA343276357 rs879887676 |
798 | P>A | No |
ClinGen TOPMed |
|
|
rs368086805 CA1197897 |
798 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA31535273 rs879887676 |
798 | P>S | No |
ClinGen TOPMed |
|
|
rs775588427 CA1197896 |
799 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1248964 CA1197894 COSM1248963 rs760093872 |
801 | I>V | liver oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA343276325 rs1571150794 |
803 | P>S | No |
ClinGen Ensembl |
|
|
CA1197893 rs774696742 |
805 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350461366 CA343276312 |
805 | D>N | No |
ClinGen gnomAD |
|
|
CA343276306 rs1428214237 |
806 | T>A | No |
ClinGen TOPMed |
|
|
CA1197892 rs771264275 |
806 | T>N | No |
ClinGen ExAC |
|
|
rs199630217 CA343276299 |
807 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1464135690 CA343276281 |
809 | P>L | No |
ClinGen gnomAD |
|
|
CA343276263 rs1418807624 |
812 | T>I | No |
ClinGen gnomAD |
|
|
CA343276258 rs1184922172 |
813 | V>L | No |
ClinGen gnomAD |
|
|
CA343276237 rs1557861228 |
816 | G>E | No |
ClinGen Ensembl |
|
|
rs1247850893 CA343276232 |
817 | F>V | No |
ClinGen gnomAD |
|
|
rs1173506852 CA343276219 |
818 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 818 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1193363414 CA343276203 |
821 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1197889 rs768230341 |
821 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA1197888 rs746504023 |
822 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA343276184 rs1260412264 |
824 | S>N | No |
ClinGen gnomAD |
|
|
CA343276170 rs1198810741 |
826 | G>R | No |
ClinGen gnomAD |
|
|
CA343276135 rs1208545752 |
830 | A>T | No |
ClinGen TOPMed |
|
|
rs866353575 CA31534690 |
832 | A>V | No |
ClinGen Ensembl |
|
|
CA1197869 rs746722049 |
833 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1197868 rs775283020 |
835 | I>V | No |
ClinGen ExAC TOPMed |
|
|
rs771649069 CA1197866 |
836 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1309695304 CA343276047 |
837 | I>V | No |
ClinGen gnomAD |
|
|
rs745391240 CA1197865 |
839 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA31534616 rs756355274 |
847 | E>D | No |
ClinGen ExAC |
|
|
rs1412971009 CA343275905 |
848 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 849 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 850 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 851 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1425171090 CA343275838 |
853 | L>S | No |
ClinGen gnomAD |
|
|
rs1483372961 CA343275819 |
854 | D>E | No |
ClinGen gnomAD |
|
|
CA343275803 CA343275801 rs1387443394 |
855 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 856 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs540161688 CA1197842 |
859 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1310108654 CA343275677 |
862 | T>A | No |
ClinGen TOPMed |
|
|
CA31534471 rs12062289 |
863 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA343275666 rs12062289 |
863 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1244880666 CA343275652 |
864 | G>S | No |
ClinGen TOPMed |
|
|
CA1197839 rs755236228 |
866 | G>E | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs1571149810 CA343275607 |
867 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA343275615 rs1293391820 |
867 | D>N | No |
ClinGen TOPMed |
|
|
rs1204298316 CA343275598 |
868 | D>N | No |
ClinGen TOPMed |
|
|
CA343275567 rs1222094117 |
870 | L>V | No |
ClinGen gnomAD |
|
|
CA343275538 rs1222645406 |
872 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1197836 rs780062845 |
875 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA31534461 rs780062845 |
875 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758505885 CA1197835 |
877 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343275488 rs1179939057 |
877 | G>R | No |
ClinGen TOPMed |
|
|
CA343275402 rs1342391081 |
884 | E>D | No |
ClinGen gnomAD |
|
| rs778904236 | 884 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343275396 rs200807488 |
885 | D>H | No |
ClinGen gnomAD |
|
|
CA31534454 rs200807488 |
885 | D>N | No |
ClinGen gnomAD |
|
|
rs1382148734 CA343275375 |
886 | L>Q | No |
ClinGen gnomAD |
|
|
rs941880762 CA31534452 |
887 | E>D | No |
ClinGen TOPMed |
|
|
rs750834336 CA1197832 |
892 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396829399 CA343275120 |
895 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs779531855 CA1197809 |
898 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA1197810 rs750545966 |
898 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757887150 CA1197808 |
901 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250907692 CA343275009 |
903 | E>D | No |
ClinGen gnomAD |
|
|
rs1459238441 CA343274995 |
905 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA343274985 rs1421041370 |
906 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1195472923 CA343274987 |
906 | F>S | No |
ClinGen gnomAD |
|
|
CA343274953 rs1235570677 |
911 | T>I | No |
ClinGen gnomAD |
|
|
rs1185691037 CA343274941 |
913 | G>E | No |
ClinGen TOPMed |
|
|
rs756554726 CA1197805 |
915 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1197804 rs751116790 |
917 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA31533923 rs760264532 |
918 | Q>E | No |
ClinGen Ensembl |
|
|
rs1445340491 CA343274911 |
918 | Q>R | No |
ClinGen TOPMed |
|
|
CA1197781 rs765920287 |
921 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 924 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764656530 CA1197778 |
930 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs372660936 CA1197777 |
931 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343274789 rs1188958445 |
934 | G>D | No |
ClinGen gnomAD |
|
|
rs764048827 CA1197775 |
936 | F>Y | No |
ClinGen ExAC |
|
|
CA1197772 rs150910743 |
938 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1448141499 CA343274754 |
940 | M>V | No |
ClinGen gnomAD |
|
|
rs200318072 CA1197771 |
941 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1197769 rs200318072 |
941 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1197750 rs763097073 |
945 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA343273314 rs1274215639 |
949 | V>I | No |
ClinGen gnomAD |
|
|
rs770192389 CA1197748 |
959 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA343273008 rs1234304516 |
962 | T>I | No |
ClinGen TOPMed |
|
|
CA343272975 rs1268296372 |
964 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1035996357 CA31533323 |
965 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs940845491 CA31533321 |
967 | R>C | No |
ClinGen TOPMed |
|
|
CA31533316 COSM414388 rs867858880 |
967 | R>H | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs769012841 CA1197744 |
968 | T>K | No |
ClinGen ExAC |
|
|
rs199945391 CA1197741 |
970 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199945391 CA1197742 |
970 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1197740 rs753332973 |
977 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1197738 rs755584598 |
979 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs138364965 CA31533260 |
980 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1166608037 CA343272716 |
981 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 982 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1455972014 CA343272652 |
983 | P>L | No |
ClinGen gnomAD |
|
|
rs530747468 CA1197736 |
984 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1197735 rs530747468 |
984 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343272642 rs530747468 |
984 | N>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1193465763 CA343272611 |
985 | R>C | No |
ClinGen gnomAD |
|
|
rs1193465763 CA343272613 |
985 | R>G | No |
ClinGen gnomAD |
|
|
rs766688773 CA1197733 |
985 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1197734 rs766688773 |
985 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279476417 CA343272530 |
989 | D>N | No |
ClinGen gnomAD |
|
|
rs750607186 CA1197712 |
992 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA343272502 rs1318446628 |
993 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1318446628 CA343272503 |
993 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1224538172 CA343272487 |
995 | G>D | No |
ClinGen gnomAD |
|
|
rs1224538172 CA343272485 |
995 | G>V | No |
ClinGen gnomAD |
|
|
CA343272470 rs1271305963 |
998 | A>S | No |
ClinGen TOPMed |
|
|
CA1197710 rs761919408 |
998 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs112685797 CA31532985 |
1002 | K>R | No |
ClinGen TOPMed |
|
|
CA343272420 rs1557859778 |
1006 | L>V | No |
ClinGen Ensembl |
|
|
CA1197707 rs761236399 |
1009 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs895057627 CA31532973 |
1012 | L>Q | No |
ClinGen Ensembl |
|
|
CA1197706 rs775980693 |
1013 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775980693 CA343272375 |
1013 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1014 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs936542407 CA31532953 |
1018 | T>A | No |
ClinGen Ensembl |
|
|
CA1197704 rs746255109 |
1019 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs555340124 CA31532939 |
1024 | E>G | No |
ClinGen Ensembl |
|
|
rs772882348 CA1197703 |
1024 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs769374695 CA1197702 |
1027 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747675106 CA1197701 |
1030 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA343272230 rs1557859742 |
1035 | S>C | No |
ClinGen Ensembl |
|
|
CA1197700 rs780627335 |
1036 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA343272206 rs1389280986 |
1039 | L>V | No |
ClinGen TOPMed |
|
|
rs34997807 CA31532922 VAR_033803 |
1040 | V>G | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1261081916 CA343272194 |
1041 | V>L | No |
ClinGen gnomAD |
|
|
rs1261081916 CA343272196 |
1041 | V>M | No |
ClinGen gnomAD |
|
|
CA1197699 rs754965215 |
1043 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs746879914 CA1197698 |
1044 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA343272156 rs1327793787 |
1046 | E>G | No |
ClinGen TOPMed |
|
|
CA1197696 rs758222612 |
1048 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA1197682 rs776431514 |
1050 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746546316 CA1197680 |
1056 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs772182530 CA1197678 |
1058 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1668137 rs745660172 CA1197677 COSM1668138 |
1058 | R>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs199897630 CA31532779 |
1061 | I>T | No |
ClinGen Ensembl |
|
|
CA1197676 rs141984877 |
1061 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1197673 rs777993833 |
1065 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767991810 CA1197670 |
1066 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767991810 CA1197671 |
1066 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1197669 rs760021738 |
1068 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA343271939 rs1469049589 |
1077 | T>I | No |
ClinGen gnomAD |
|
|
CA343271925 rs1252109492 |
1080 | Q>K | No |
ClinGen TOPMed |
|
|
CA1197668 rs751952742 |
1083 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs141211632 CA1197666 |
1083 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343271877 rs1251975274 |
1084 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1086 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1197664 rs768460182 |
1086 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA1197650 rs766935648 |
1088 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA31532338 rs753915542 |
1090 | Y>C | No |
ClinGen TOPMed |
|
|
CA31532324 rs1022843599 |
1093 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1095 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1097 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1011911109 CA31532300 |
1097 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 1100 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343271419 rs1455524699 |
1101 | M>T | No |
ClinGen gnomAD |
|
|
rs763822817 CA1197647 |
1101 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs760468807 CA1197646 |
1103 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA343271306 rs1181768536 |
1104 | V>G | No |
ClinGen gnomAD |
|
|
rs1471624244 CA343271284 |
1105 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1106 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259718803 CA343271268 |
1106 | R>H | No |
ClinGen gnomAD |
|
|
rs775285095 CA1197645 |
1107 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1454415813 CA343271227 |
1107 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 1110 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759108773 CA1197643 |
1111 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343271138 rs181135283 |
1111 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343271076 rs1557859318 |
1115 | L>F | No |
ClinGen Ensembl |
|
|
CA343270894 rs1351885792 |
1122 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA343270882 rs1259728190 |
1122 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1571146978 CA343270866 |
1123 | T>I | No |
ClinGen Ensembl |
|
|
CA1197641 rs149398610 |
1126 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200991611 CA1197642 |
1126 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1197640 rs749061726 |
1127 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA343270729 rs1320012168 |
1131 | L>F | No |
ClinGen gnomAD |
|
|
rs1384001854 CA343270720 CA343270719 |
1132 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA343270693 rs1158634304 |
1133 | P>L | No |
ClinGen gnomAD |
|
|
CA1197637 rs748305561 |
1136 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406915153 CA343270617 |
1137 | V>M | No |
ClinGen TOPMed |
|
|
CA1197636 rs368351562 |
1138 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1140 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs530195912 CA31531673 |
1146 | S>C | No |
ClinGen TOPMed |
|
|
rs530195912 CA343269330 |
1146 | S>F | No |
ClinGen TOPMed |
|
|
rs780116918 CA1197616 |
1149 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs760894494 CA1197615 |
1153 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343269281 rs760894494 |
1153 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779542068 CA1197613 |
1157 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs915967287 CA31531649 |
1158 | L>F | No |
ClinGen TOPMed |
|
|
CA343269246 rs1341427045 |
1159 | N>D | No |
ClinGen gnomAD |
|
|
CA1197612 rs757736121 |
1159 | N>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1159 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1197608 rs751033322 |
1162 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs754600665 CA1197609 |
1162 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA343269222 rs1243134474 |
1162 | M>V | No |
ClinGen TOPMed |
|
|
COSM898258 rs765977981 CA1197607 COSM1583653 |
1163 | H>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs762434301 CA1197606 |
1164 | N>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1165 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773178506 CA1197605 |
1165 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA343269188 rs765123561 |
1167 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs765123561 CA1197604 |
1167 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1197603 rs761622581 |
1168 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1170 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1197602 rs776432073 |
1171 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA343269158 rs1189969466 |
1171 | A>V | No |
ClinGen TOPMed |
|
|
CA343269147 rs1460107280 |
1173 | Y>C | No |
ClinGen TOPMed |
|
|
rs772329332 CA1197598 |
1174 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775562836 CA1197599 |
1174 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA343269134 rs1204653314 |
1176 | I>V | No |
ClinGen gnomAD |
|
|
rs745912040 CA1197597 |
1178 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1197596 rs373521245 |
1178 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343269101 rs771515903 |
1181 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771515903 CA1197595 |
1181 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778132219 CA1197593 |
1182 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA343269087 rs1365822478 COSM1145998 COSM676758 |
1183 | E>G | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1281324220 CA343269067 |
1186 | P>T | No |
ClinGen gnomAD |
|
|
rs756429023 CA1197592 |
1188 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA343269020 rs1306656376 |
1190 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 1191 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343269008 rs1437130413 |
1191 | C>Y | No |
ClinGen gnomAD |
|
|
CA1197591 rs751280163 |
1193 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1175868624 CA343268882 |
1196 | F>V | No |
ClinGen gnomAD |
|
|
CA1197589 rs757939740 |
1199 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs113526342 CA31531471 |
1203 | V>A | No |
ClinGen Ensembl |
|
|
CA343268680 rs1324502575 |
1204 | T>A | No |
ClinGen TOPMed |
|
|
CA343268381 rs1305487230 |
1211 | K>R | No |
ClinGen TOPMed |
|
|
CA343268365 rs1353530371 |
1212 | D>N | No |
ClinGen TOPMed |
|
|
CA343268282 rs1241519396 |
1214 | I>N | No |
ClinGen TOPMed |
|
|
rs752491205 CA1197562 |
1216 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1227110286 CA343268081 |
1221 | L>R | No |
ClinGen gnomAD |
|
|
CA1197561 rs767865430 |
1221 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs759764245 CA1197560 |
1222 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs774710055 COSM1583654 CA1197559 COSM898257 |
1224 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs766622969 CA1197558 |
1224 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with P53621
[MIM: 616414]: Autoimmune interstitial lung, joint, and kidney disease (AILJK)
An autoimmune disease characterized by inflammatory arthritis, interstitial lung disease, and immune complex-mediated renal disease. {ECO:0000269|PubMed:25894502}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autoimmune disease characterized by inflammatory arthritis, interstitial lung disease, and immune complex-mediated renal disease. {ECO:0000269|PubMed:25894502}. Note=The disease is caused by variants affecting the gene represented in this entry.
11 regional properties for P53621
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | WD40 repeat | 2 - 39 | IPR001680-1 |
| repeat | WD40 repeat | 40 - 165 | IPR001680-2 |
| repeat | WD40 repeat | 194 - 318 | IPR001680-3 |
| domain | Coatomer, WD associated region | 343 - 766 | IPR006692 |
| domain | Coatomer, alpha subunit, C-terminal | 815 - 1224 | IPR010714 |
| conserved_site | WD40 repeat, conserved site | 150 - 164 | IPR019775 |
| repeat | G-protein beta WD-40 repeat | 108 - 122 | IPR020472-1 |
| repeat | G-protein beta WD-40 repeat | 150 - 164 | IPR020472-2 |
| repeat | G-protein beta WD-40 repeat | 264 - 278 | IPR020472-3 |
| domain | Anaphase-promoting complex subunit 4-like, WD40 domain | 212 - 291 | IPR024977 |
| domain | Coatomer subunit alpha, WD Associated Region | 324 - 774 | IPR047312 |
Functions
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| COPI vesicle coat | One of two multimeric complexes that forms a membrane vesicle coat. The mammalian COPI subunits are called alpha-, beta-, beta'-, gamma-, delta-, epsilon- and zeta-COP. Vesicles with COPI coats are found associated with Golgi membranes at steady state. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| 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. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| growth cone | The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| transport vesicle | Any of the vesicles of the constitutive secretory pathway, which carry cargo from the endoplasmic reticulum to the Golgi, between Golgi cisternae, from the Golgi to the ER (retrograde transport) or to destinations within or outside the cell. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| hormone activity | The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects; all bind receptors and trigger some biological process. |
| structural molecule activity | The action of a molecule that contributes to the structural integrity of a complex or its assembly within or outside a cell. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| endoplasmic reticulum to Golgi vesicle-mediated transport | The directed movement of substances from the endoplasmic reticulum (ER) to the Golgi, mediated by COP II vesicles. Small COP II coated vesicles form from the ER and then fuse directly with the cis-Golgi. Larger structures are transported along microtubules to the cis-Golgi. |
| intra-Golgi vesicle-mediated transport | The directed movement of substances within the Golgi, mediated by small transport vesicles. These either fuse with the cis-Golgi or with each other to form the membrane stacks known as the cis-Golgi reticulum (network). |
| intracellular protein transport | The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. |
| pancreatic juice secretion | The regulated release of pancreatic juice by the exocrine pancreas into the upper part of the intestine. Pancreatic juice is slightly alkaline and contains numerous enzymes and inactive enzyme precursors including alpha-amylase, chymotrypsinogen, lipase, procarboxypeptidase, proelastase, prophospholipase A2, ribonuclease, and trypsinogen. Its high concentration of bicarbonate ions helps to neutralize the acid from the stomach. |
| retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | The directed movement of substances from the Golgi back to the endoplasmic reticulum, mediated by vesicles bearing specific protein coats such as COPI or COG. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P53622 | COP1 | Coatomer subunit alpha | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P35605 | COPB2 | Coatomer subunit beta' | Bos taurus (Bovine) | PR |
| O62621 | beta'COP | Coatomer subunit beta' | Drosophila melanogaster (Fruit fly) | PR |
| P35606 | COPB2 | Coatomer subunit beta' | Homo sapiens (Human) | PR |
| O55029 | Copb2 | Coatomer subunit beta' | Mus musculus (Mouse) | PR |
| Q8CIE6 | Copa | Coatomer subunit alpha | Mus musculus (Mouse) | PR |
| O35142 | Copb2 | Coatomer subunit beta' | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLTKFETKSA | RVKGLSFHPK | RPWILTSLHN | GVIQLWDYRM | CTLIDKFDEH | DGPVRGIDFH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KQQPLFVSGG | DDYKIKVWNY | KLRRCLFTLL | GHLDYIRTTF | FHHEYPWILS | ASDDQTIRVW |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NWQSRTCVCV | LTGHNHYVMC | AQFHPTEDLV | VSASLDQTVR | VWDISGLRKK | NLSPGAVESD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VRGITGVDLF | GTTDAVVKHV | LEGHDRGVNW | AAFHPTMPLI | VSGADDRQVK | IWRMNESKAW |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EVDTCRGHYN | NVSCAVFHPR | QELILSNSED | KSIRVWDMSK | RTGVQTFRRD | HDRFWVLAAH |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PNLNLFAAGH | DGGMIVFKLE | RERPAYAVHG | NMLHYVKDRF | LRQLDFNSSK | DVAVMQLRSG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SKFPVFNMSY | NPAENAVLLC | TRASNLENST | YDLYTIPKDA | DSQNPDAPEG | KRSSGLTAVW |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VARNRFAVLD | RMHSLLIKNL | KNEITKKVQV | PNCDEIFYAG | TGNLLLRDAD | SITLFDVQQK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RTLASVKISK | VKYVIWSADM | SHVALLAKHA | IVICNRKLDA | LCNIHENIRV | KSGAWDESGV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FIYTTSNHIK | YAVTTGDHGI | IRTLDLPIYV | TRVKGNNVYC | LDRECRPRVL | TIDPTEFKFK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LALINRKYDE | VLHMVRNAKL | VGQSIIAYLQ | KKGYPEVALH | FVKDEKTRFS | LALECGNIEI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ALEAAKALDD | KNCWEKLGEV | ALLQGNHQIV | EMCYQRTKNF | DKLSFLYLIT | GNLEKLRKMM |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KIAEIRKDMS | GHYQNALYLG | DVSERVRILK | NCGQKSLAYL | TAATHGLDEE | AESLKETFDP |
| 790 | 800 | 810 | 820 | 830 | 840 |
| EKETIPDIDP | NAKLLQPPAP | IMPLDTNWPL | LTVSKGFFEG | TIASKGKGGA | LAADIDIDTV |
| 850 | 860 | 870 | 880 | 890 | 900 |
| GTEGWGEDAE | LQLDEDGFVE | ATEGLGDDAL | GKGQEEGGGW | DVEEDLELPP | ELDISPGAAG |
| 910 | 920 | 930 | 940 | 950 | 960 |
| GAEDGFFVPP | TKGTSPTQIW | CNNSQLPVDH | ILAGSFETAM | RLLHDQVGVI | QFGPYKQLFL |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| QTYARGRTTY | QALPCLPSMY | GYPNRNWKDA | GLKNGVPAVG | LKLNDLIQRL | QLCYQLTTVG |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| KFEEAVEKFR | SILLSVPLLV | VDNKQEIAEA | QQLITICREY | IVGLSVETER | KKLPKETLEQ |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| QKRICEMAAY | FTHSNLQPVH | MILVLRTALN | LFFKLKNFKT | AATFARRLLE | LGPKPEVAQQ |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| TRKILSACEK | NPTDAYQLNY | DMHNPFDICA | ASYRPIYRGK | PVEKCPLSGA | CYSPEFKGQI |
| 1210 | 1220 | ||||
| CRVTTVTEIG | KDVIGLRISP | LQFR |