P11277
Gene name |
SPTB (SPTB1) |
Protein name |
Spectrin beta chain, erythrocytic |
Names |
Beta-I spectrin |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6710 |
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

7 structures for P11277
1730 variants for P11277
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs121918651 RCV000013693 RCV001000731 RCV001781258 |
1 | M>V | Hereditary spherocytosis type 2 [ClinVar] | Yes |
ClinVar dbSNP |
rs753928319 CA7231565 RCV000355095 RCV000297871 |
6 | E>D | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
RCV001753775 RCV001329812 rs138437526 RCV000263879 RCV000356316 CA7231564 |
9 | N>T | Elliptocytosis 3 Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV000290958 RCV000383070 CA7231512 rs757763783 |
74 | R>H | Variant assessed as Somatic; 0.0 impact. Spherocytosis, Dominant [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
rs2082930394 RCV001812264 RCV001262268 |
138 | I>T | Hereditary spherocytosis type 2 [ClinVar] | Yes |
ClinVar dbSNP |
rs121918646 VAR_001352 CA122736 RCV000013684 |
202 | W>R | Hereditary spherocytosis type 2 SPH2; spectrin Kissimmee [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
rs1555371769 RCV003133483 RCV000655908 CA390031881 |
216 | R>Q | Hereditary spherocytosis type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
CA7231385 RCV000403154 COSM1370636 rs764534275 RCV000306714 |
216 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine Spherocytosis, Dominant [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
RCV000352235 RCV002520912 CA7231326 RCV000406739 rs138841945 |
258 | T>M | Spherocytosis, Dominant Variant assessed as Somatic; 0.0007865 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
RCV001810559 rs143599352 CA7231311 RCV001336807 |
291 | G>S | Elliptocytosis 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
CA10635092 RCV000373860 RCV000321491 rs886050627 |
314 | L>V | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
rs146651264 CA7231269 RCV000282927 RCV000379719 |
316 | T>I | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
rs141973081 CA7231248 RCV000329227 RCV000362952 |
350 | V>M | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
CA7231162 RCV000405894 RCV000311567 rs780179918 |
429 | R>Q | Variant assessed as Somatic; 0.0 impact. Spherocytosis, Dominant [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
CA7231158 rs149521594 RCV000298689 RCV001812817 RCV000369811 |
435 | E>Q | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV000338831 RCV000243276 RCV001808673 VAR_001353 RCV000391473 RCV001640502 CA7231156 rs229587 |
439 | S>N | Hereditary spherocytosis type 2 Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV000391465 RCV000281463 COSM171755 RCV003137921 rs752079707 CA7231152 |
443 | R>H | large_intestine Spherocytosis, Dominant [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
RCV000655907 rs1555370967 |
444 | L>missing | Hereditary spherocytosis type 2 [ClinVar] | Yes |
ClinVar dbSNP |
RCV000340064 RCV000287358 COSM106657 rs150698819 CA7231132 |
448 | D>N | Spherocytosis, Dominant skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
RCV000382998 CA7231103 RCV001329810 RCV000291040 RCV002261046 rs140796444 |
498 | R>H | Spherocytosis, Dominant Pyropoikilocytosis, hereditary [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
RCV001002601 rs755636829 RCV000273442 RCV000330884 CA7231096 RCV003137920 |
502 | R>C | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
rs886050625 RCV002522315 RCV000354950 CA10640616 RCV000260602 |
521 | R>C | Spherocytosis, Dominant Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
CA7231079 rs145315673 RCV000403028 RCV000300035 |
526 | T>I | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
RCV000303487 RCV000358248 rs145675502 RCV001329811 RCV001812815 CA7231074 |
536 | D>N | Elliptocytosis 3 Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
CA7231024 RCV000408007 RCV002520911 rs61459051 RCV000306950 |
589 | A>T | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV000385612 RCV000349718 CA10645723 rs886050623 |
599 | G>E | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
RCV000251527 RCV001812688 RCV000295049 VAR_038514 rs3742601 RCV000389341 CA7230994 |
613 | S>I | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs863223304 RCV000013694 |
638 | R>missing | Hereditary spherocytosis type 2 [ClinVar] | Yes |
ClinVar dbSNP |
RCV000243750 rs3742602 RCV000304071 RCV001812689 RCV000267682 CA7230958 COSM1607859 |
687 | R>H | liver Spherocytosis, Dominant [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs755434241 RCV000307726 CA7230947 RCV000362442 |
703 | M>T | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
rs184962510 CA7230944 RCV001859879 RCV000349076 RCV000403276 |
706 | R>C | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV000393004 rs538347576 RCV003137919 RCV000312823 CA7230932 |
717 | R>C | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
rs867858924 RCV000373232 RCV000337297 CA10640611 |
730 | D>N | Spherocytosis, Dominant Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
RCV000322302 RCV000267188 CA7230900 rs147712872 RCV001812812 |
768 | G>D | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
RCV000380614 rs886050621 CA10645713 RCV000326052 |
807 | Q>E | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
RCV000270879 CA7230869 rs144219025 RCV002520910 RCV000365504 |
814 | R>Q | Spherocytosis, Dominant Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
RCV001811601 rs146326769 CA7230848 RCV002249612 RCV001257426 |
840 | R>H | Hereditary spherocytosis type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
RCV000313348 RCV000368002 RCV002520909 CA7230823 rs146031194 |
886 | V>L | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs1555369657 CA390047744 RCV001784220 RCV000655909 |
955 | R>* | Hereditary spherocytosis type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
RCV003137918 rs764571605 RCV000298942 RCV000404059 CA7230723 |
993 | I>M | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
rs1047765 RCV000392924 CA7230689 RCV000342059 |
1031 | D>Y | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
RCV000286900 RCV002261045 RCV000381318 rs143827332 CA7230688 |
1035 | R>W | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV000326706 rs374648585 CA7230658 RCV000290473 |
1104 | A>G | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
RCV000331133 RCV001812810 RCV000385687 rs141173028 CA7230634 |
1142 | R>Q | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs77806 VAR_001354 RCV001808676 RCV000370587 RCV000251016 RCV000276049 CA7230628 RCV001539178 |
1151 | N>D | Hereditary spherocytosis type 2 Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs76283214 CA7230618 RCV000316138 RCV001507849 RCV001001522 RCV000260948 |
1160 | R>H | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
RCV000355761 rs886050620 CA10645701 RCV002522314 RCV000300914 |
1179 | Q>R | Spherocytosis, Dominant Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
RCV000995192 rs149186357 RCV002249601 CA7230553 |
1227 | P>S | Hereditary spherocytosis type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV000984331 rs1594773586 |
1262 | K>missing | Hereditary spherocytosis type 2 [ClinVar] | Yes |
ClinVar dbSNP |
rs150471537 RCV001507847 CA7230456 RCV000655913 |
1306 | R>* | Hereditary spherocytosis type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
RCV000766108 rs1566754467 CA390045083 |
1355 | E>* | Hereditary spherocytosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
CA7230409 rs199780681 RCV003137917 RCV000332747 RCV000296462 |
1359 | R>Q | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
RCV000387164 RCV001507844 RCV000292952 rs189656371 CA7230410 |
1359 | R>W | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs760803657 CA7230403 RCV001329813 RCV002290996 |
1369 | K>E | Elliptocytosis 3 Hereditary spherocytosis type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
rs10132778 CA7230399 RCV000241653 RCV000317379 RCV001812693 VAR_001355 RCV000372015 |
1374 | H>R | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
VAR_001356 RCV000321241 rs17180350 RCV000250003 RCV000266118 RCV001533862 CA7230380 |
1403 | R>Q | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV000241782 rs17245552 VAR_038515 RCV000306018 RCV000360695 RCV001707581 CA7230374 |
1408 | G>R | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV002290981 CA390044638 RCV001002577 RCV001784539 rs1594767593 TCGA novel |
1423 | R>* | Hereditary spherocytosis type 2 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
RCV000313273 CA10640603 rs886050618 RCV000349400 |
1450 | G>V | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
RCV002056405 rs200876438 RCV000349127 CA7230289 RCV000291893 |
1504 | A>V | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
RCV000261981 rs886050617 CA10640601 RCV000354478 |
1536 | D>H | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
RCV000351040 CA7230228 rs760176952 RCV000312530 |
1551 | D>Y | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
RCV000283035 CA7230185 rs375478086 RCV000375251 |
1613 | P>S | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs886050615 RCV000307239 CA10635081 RCV000364199 |
1704 | Q>H | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
RCV000284990 CA7230014 rs772761835 RCV000391797 |
1752 | A>G | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
RCV001508363 RCV000013696 rs267607086 CA210954 |
1756 | R>* | Hereditary spherocytosis type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
CA7230001 RCV000316717 rs756366285 RCV000373712 |
1765 | A>V | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
rs200386310 CA7229963 RCV000490389 |
1819 | E>* | Hereditary spherocytosis type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
rs201267737 CA7229962 RCV002522313 RCV000366566 RCV000328227 |
1819 | E>V | Spherocytosis, Dominant Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
RCV000305906 RCV000507342 RCV002520908 RCV001508362 rs200508249 RCV000397120 CA7229960 |
1823 | D>N | Spherocytosis, Dominant Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
RCV000359511 rs886050613 CA10644518 RCV000302354 |
1844 | E>Q | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
rs1555367359 RCV000655914 CA390040503 |
1875 | Q>* | Hereditary spherocytosis type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
CA7229903 rs148337824 RCV001091049 RCV001329814 |
1884 | A>V | Elliptocytosis 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV000350974 CA7229864 rs773780733 RCV000293689 |
1925 | Q>H | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
RCV000290321 RCV000381850 RCV002522312 RCV001812809 rs764560431 CA7229849 |
1937 | S>C | Spherocytosis, Dominant Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
RCV001812808 RCV001329815 RCV000268024 RCV000325444 rs140141633 CA7229832 |
1972 | R>Q | Elliptocytosis 3 Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV001089553 rs2082214097 |
2014 | F>C | Elliptocytosis 3 [ClinVar] | Yes |
ClinVar dbSNP |
rs121918647 CA122738 RCV000013686 VAR_001357 RCV000013687 |
2018 | A>G | Elliptocytosis 3 Pyropoikilocytosis, hereditary (hpp) Pyropoikilocytosis, hereditary EL3; Cagliary [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
CA122740 RCV002513020 RCV001004906 VAR_001358 RCV000013688 rs121918648 |
2019 | S>P | Elliptocytosis 3 Hereditary spherocytosis type 2 EL3; Providence [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
rs367841692 VAR_001359 COSM3769482 CA7229762 |
2023 | A>V | pancreas EL3; Paris [Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD |
CA390039499 rs1225539653 CA390039498 VAR_001360 |
2024 | W>R | EL3; Linguere [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
COSM1515970 RCV003129752 RCV001004904 VAR_001361 rs121918649 RCV000013691 CA122743 |
2025 | L>R | lung Hereditary spherocytosis type 2 ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL EL3; Buffalo [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
CA390039437 RCV000625738 rs1555366607 |
2032 | L>P | Hereditary spherocytosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
RCV001089997 rs1345709572 |
2040 | T>I | Hereditary spherocytosis type 2 [ClinVar] | Yes |
ClinVar dbSNP |
rs863223303 RCV000013682 |
2046 | K>missing | Elliptocytosis 3 [ClinVar] | Yes |
ClinVar dbSNP |
VAR_001362 rs121918645 RCV001781257 RCV000013679 CA122734 |
2053 | A>P | Elliptocytosis 3 EL3; Kayes [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
rs1594753904 RCV000013683 |
2060 | S>missing | Elliptocytosis 3 [ClinVar] | Yes |
ClinVar dbSNP |
rs1690651311 RCV001329816 |
2061 | W>G | Elliptocytosis 3 [ClinVar] | Yes |
ClinVar dbSNP |
RCV000013692 CA122745 rs121918650 |
2064 | R>P | Elliptocytosis 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
RCV000626334 rs1555366592 |
2066 | A>missing | Hereditary spherocytosis [ClinVar] | Yes |
ClinVar dbSNP |
RCV000349988 rs200787781 RCV003137916 CA7229718 RCV000403325 |
2079 | R>H | Spherocytosis, Dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
CA262681632 rs372733273 RCV000655915 |
2091 | P>T | Congenital hemolytic anemia [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
rs750322310 CA7231568 |
2 | T>A | No |
ClinGen ExAC gnomAD |
|
CA390038475 rs1367842585 |
3 | S>L | No |
ClinGen gnomAD |
|
CA7231561 rs147059670 |
14 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1489551959 CA390038394 |
15 | P>R | No |
ClinGen gnomAD |
|
rs774891298 CA7231559 |
18 | R>K | No |
ClinGen ExAC gnomAD |
|
rs759868093 CA7231560 |
18 | R>W | No |
ClinGen ExAC gnomAD |
|
rs771406838 CA7231558 |
19 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1225208646 CA390038367 |
19 | I>M | No |
ClinGen gnomAD |
|
CA7231557 rs761373465 |
19 | I>T | No |
ClinGen ExAC gnomAD |
|
CA390038362 rs1306400678 |
20 | N>S | No |
ClinGen gnomAD |
|
rs199850904 CA7231556 |
22 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs200116664 CA7231555 |
22 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA262667774 rs200116664 |
22 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390038348 rs1302184341 |
23 | W>R | No |
ClinGen gnomAD |
|
rs771875005 CA7231552 |
25 | A>S | No |
ClinGen ExAC gnomAD |
|
rs771875005 CA7231553 |
25 | A>T | No |
ClinGen ExAC gnomAD |
|
rs745686199 CA7231551 |
25 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7231549 rs369115877 |
28 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs777962458 CA7231547 |
29 | E>K | No |
ClinGen ExAC gnomAD |
|
CA7231543 rs767892082 |
34 | N>S | No |
ClinGen ExAC gnomAD |
|
rs375967688 CA390038238 |
38 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs527744961 CA7231540 |
39 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1351487127 CA390038201 |
44 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs1228690182 CA390038202 |
44 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA7231537 rs768103906 |
45 | I>L | No |
ClinGen ExAC gnomAD |
|
CA262667740 rs1024996523 |
45 | I>M | No |
ClinGen TOPMed gnomAD |
|
CA390038185 rs1336011098 |
47 | A>T | No |
ClinGen TOPMed |
|
CA390036257 rs1157089669 |
51 | E>G | No |
ClinGen TOPMed gnomAD |
|
rs751809792 CA7231523 |
51 | E>K | No |
ClinGen ExAC |
|
CA390036255 rs1157089669 |
51 | E>V | No |
ClinGen TOPMed gnomAD |
|
RCV001002390 CA390036241 rs1452760098 |
52 | R>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000756716 CA390036242 rs1452760098 |
52 | R>Q | No |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001027528 rs1594796374 CA390036247 |
52 | R>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
rs191611922 CA262658556 |
59 | T>I | No |
ClinGen 1000Genomes |
|
CA390036162 rs1594796364 |
59 | T>P | No |
ClinGen Ensembl |
|
CA7231521 rs532240291 |
61 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1428890712 CA390036127 |
64 | V>M | No |
ClinGen TOPMed |
|
CA390036117 rs1594796326 |
65 | N>T | No |
ClinGen Ensembl |
|
CA390036110 rs1242475998 |
66 | S>L | No |
ClinGen TOPMed gnomAD |
|
rs1242475998 CA390036108 |
66 | S>W | No |
ClinGen TOPMed gnomAD |
|
CA390036104 rs1594796304 |
67 | H>P | No |
ClinGen Ensembl |
|
rs760171132 CA7231518 |
67 | H>Q | No |
ClinGen ExAC gnomAD |
|
CA262658548 rs767062363 |
69 | A>D | No |
ClinGen ExAC gnomAD |
|
rs1204232304 CA390036093 |
69 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1204232304 CA390036095 |
69 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA7231516 rs767062363 |
69 | A>V | No |
ClinGen ExAC gnomAD |
|
RCV001812372 CA390036090 rs1566775577 |
70 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
CA390036088 rs1293036930 |
70 | R>P | No |
ClinGen gnomAD |
|
CA390036089 rs1293036930 |
70 | R>Q | No |
ClinGen gnomAD |
|
CA7231515 rs199910491 |
71 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs774078629 CA7231514 |
72 | S>P | No |
ClinGen ExAC gnomAD |
|
rs575005279 CA7231513 |
74 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA7231510 rs769910649 |
75 | I>V | No |
ClinGen ExAC gnomAD |
|
COSM957080 rs781066541 CA7231508 |
77 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs747147135 CA7231506 |
80 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7231503 rs750849788 |
83 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758726427 CA7231504 |
83 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM194079 CA390035955 rs1407023521 |
86 | R>C | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA7231502 COSM1370638 rs200814297 |
86 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA7231501 rs757698672 |
87 | M>V | No |
ClinGen ExAC gnomAD |
|
rs1594796144 CA390035823 |
94 | V>G | No |
ClinGen Ensembl |
|
rs754403061 CA7231500 |
98 | E>D | No |
ClinGen ExAC gnomAD |
|
rs1173811332 CA390035453 |
101 | P>A | No |
ClinGen gnomAD |
|
CA390035401 rs1468904056 |
102 | K>M | No |
ClinGen TOPMed gnomAD |
|
rs761715254 CA7231474 |
104 | T>S | No |
ClinGen ExAC |
|
rs768703842 CA7231472 |
107 | K>N | No |
ClinGen ExAC gnomAD |
|
CA7231473 rs376388962 |
107 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs139094636 COSM1477703 CA7231471 |
109 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA7231469 rs772172809 |
109 | R>H | No |
ClinGen ExAC gnomAD |
|
CA7231470 rs772172809 |
109 | R>L | No |
ClinGen ExAC gnomAD |
|
rs1285245929 CA390035134 |
112 | C>F | No |
ClinGen TOPMed gnomAD |
|
CA7231464 rs778131856 |
118 | K>R | No |
ClinGen ExAC gnomAD |
|
rs1278859505 CA390035021 |
119 | A>S | No |
ClinGen gnomAD |
|
CA262657409 rs1027165019 |
120 | L>F | No |
ClinGen Ensembl |
|
rs756588085 CA7231463 |
124 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7231462 rs371715699 |
127 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
CA7231461 rs779669473 |
127 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs897283858 CA262657394 |
133 | M>T | No |
ClinGen Ensembl |
|
rs11623956 CA7231459 |
136 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1566774323 CA390034668 |
137 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs1406317876 CA390034534 |
143 | H>N | No |
ClinGen gnomAD |
|
CA390034516 rs1158489255 |
143 | H>Q | No |
ClinGen TOPMed gnomAD |
|
rs547207486 CA7231456 |
144 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
COSM176865 CA390034501 rs1245522195 |
144 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
rs2082929857 RCV001812430 |
148 | G>D | No |
ClinVar dbSNP |
|
CA390034450 rs1460952313 |
148 | G>S | No |
ClinGen gnomAD |
|
CA7231453 rs775430901 |
156 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767566180 COSM3401412 CA7231452 |
156 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA390032994 rs1301821602 |
162 | I>L | No |
ClinGen gnomAD |
|
rs1301821602 CA390032992 |
162 | I>V | No |
ClinGen gnomAD |
|
CA7231424 rs773327035 |
164 | V>I | No |
ClinGen ExAC gnomAD |
|
CA390032915 rs1413773421 |
165 | Q>H | No |
ClinGen TOPMed |
|
CA262656394 rs370778123 |
170 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
CA7231422 rs745450272 |
170 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs370778123 CA390032817 |
170 | R>S | No |
ClinGen ESP TOPMed gnomAD |
|
rs777269456 CA7231421 |
172 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390032789 rs1423149594 |
172 | T>P | No |
ClinGen gnomAD |
|
rs769340592 CA7231420 |
173 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs146355737 CA7231417 COSM3386637 |
173 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs146355737 CA7231418 |
173 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs146355737 CA7231419 |
173 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1221464632 CA390032731 |
174 | S>L | No |
ClinGen TOPMed gnomAD |
|
CA262656368 rs1021832540 |
180 | L>M | No |
ClinGen TOPMed gnomAD |
|
CA390032447 rs1217589697 |
185 | M>K | No |
ClinGen TOPMed |
|
rs777334501 CA7231415 |
186 | K>R | No |
ClinGen ExAC gnomAD |
|
CA7231414 rs184200762 |
187 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA390032390 rs1192490558 |
188 | A>S | No |
ClinGen TOPMed |
|
CA7231396 rs369779185 |
190 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs747805892 CA7231395 |
191 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA390032189 rs866674387 |
192 | H>P | No |
ClinGen TOPMed gnomAD |
|
CA262656056 rs866674387 |
192 | H>R | No |
ClinGen TOPMed gnomAD |
|
rs1566772668 CA390032084 |
200 | S>C | No |
ClinGen Ensembl |
|
CA7231393 rs754789252 |
202 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs74666863 CA390032047 |
203 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7231391 rs144388267 |
204 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs765367830 CA7231388 |
210 | A>S | No |
ClinGen ExAC gnomAD |
|
rs762057472 CA7231387 |
211 | L>V | No |
ClinGen ExAC gnomAD |
|
CA390031929 rs1353549870 |
213 | H>Y | No |
ClinGen gnomAD |
|
rs754140720 CA7231386 |
215 | H>Q | No |
ClinGen ExAC |
|
CA390031024 rs1186772948 |
218 | D>E | No |
ClinGen TOPMed |
|
CA7231362 rs200062689 |
218 | D>N | Variant assessed as Somatic; 0.0006492 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1566772276 CA390031000 RCV000761884 |
219 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
rs542040700 CA262655613 |
219 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA390030985 rs1369788122 |
220 | I>M | No |
ClinGen TOPMed |
|
CA7231359 rs768355411 |
221 | D>N | No |
ClinGen ExAC gnomAD |
|
CA390030910 rs1314374830 |
223 | D>G | No |
ClinGen TOPMed |
|
CA262655600 rs200628112 |
229 | N>S | No |
ClinGen Ensembl |
|
CA390030746 rs1289830655 |
231 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA7231354 rs138253722 |
231 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA390030722 rs1256386270 |
235 | E>K | No |
ClinGen gnomAD |
|
CA7231351 rs540089964 |
237 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs756224667 CA7231350 |
239 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1010852820 CA262655552 |
241 | A>S | No |
ClinGen TOPMed |
|
rs752995009 CA7231349 COSM303293 |
243 | R>C | liver central_nervous_system Variant assessed as Somatic; 4.631e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs767726807 CA7231348 |
243 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1169509545 CA390030647 |
246 | G>D | No |
ClinGen gnomAD |
|
rs147062348 CA7231347 |
247 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1485478824 CA390030626 |
249 | P>L | No |
ClinGen TOPMed |
|
CA390030608 rs1594791834 |
252 | D>A | No |
ClinGen Ensembl |
|
CA390030606 rs1246616403 |
252 | D>E | No |
ClinGen gnomAD |
|
CA390030603 rs1183242252 |
253 | P>S | No |
ClinGen gnomAD |
|
CA390030567 rs1461856269 |
256 | V>I | No |
ClinGen gnomAD |
|
rs750955903 CA7231324 |
259 | E>G | No |
ClinGen ExAC gnomAD |
|
rs267604024 CA262655174 COSM135653 |
259 | E>K | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
rs763460080 CA7231323 |
260 | N>D | No |
ClinGen ExAC gnomAD |
|
CA7231322 rs760278236 |
263 | E>K | No |
ClinGen ExAC gnomAD |
|
CA7231321 rs752289369 |
267 | I>L | No |
ClinGen ExAC gnomAD |
|
rs752289369 CA390030493 |
267 | I>V | No |
ClinGen ExAC gnomAD |
|
CA262655152 rs1054520140 |
275 | H>Q | No |
ClinGen TOPMed gnomAD |
|
CA7231319 rs759127935 |
276 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759127935 CA390030428 |
276 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA262655138 rs776564000 COSM957078 |
277 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs778701629 COSM3386635 CA7231318 |
278 | S>F | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA7231317 rs770880582 |
279 | K>R | No |
ClinGen ExAC gnomAD |
|
rs762936267 CA390030405 |
280 | M>L | No |
ClinGen ExAC gnomAD |
|
rs1204218223 CA390030402 |
280 | M>R | No |
ClinGen TOPMed |
|
rs1204218223 CA390030403 |
280 | M>T | No |
ClinGen TOPMed |
|
rs762936267 CA7231316 |
280 | M>V | No |
ClinGen ExAC gnomAD |
|
CA7231315 rs151022993 |
282 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7231314 rs151022993 |
282 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1566771680 CA390030381 |
284 | A>T | No |
ClinGen Ensembl |
|
CA390030371 rs1486458426 |
285 | V>A | No |
ClinGen TOPMed |
|
rs748325242 CA7231313 |
285 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1179544605 CA390030348 |
289 | R>C | No |
ClinGen TOPMed |
|
CA7231284 rs749794973 |
295 | D>A | No |
ClinGen ExAC gnomAD |
|
rs771520744 CA7231283 CA262654484 |
295 | D>E | No |
ClinGen ExAC gnomAD |
|
CA7231282 rs754585879 |
296 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA262654477 rs1002035329 |
298 | I>T | No |
ClinGen Ensembl |
|
rs1594790275 CA390030144 |
298 | I>V | No |
ClinGen Ensembl |
|
rs1594790255 RCV001000873 |
301 | E>missing | No |
ClinVar dbSNP |
|
CA262654464 rs967975857 |
302 | K>E | No |
ClinGen gnomAD |
|
rs748115462 CA262654457 |
302 | K>M | No |
ClinGen Ensembl |
|
rs967975857 CA390030073 |
302 | K>Q | No |
ClinGen gnomAD |
|
CA7231281 rs368472797 |
303 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA262654455 rs1022539299 |
303 | M>K | No |
ClinGen TOPMed |
|
CA390030047 rs1022539299 |
303 | M>T | No |
ClinGen TOPMed |
|
rs766203211 CA7231280 |
305 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs892191009 CA262654431 |
307 | Y>C | No |
ClinGen Ensembl |
|
rs559699714 CA262654440 |
307 | Y>H | No |
ClinGen Ensembl |
|
rs568301999 CA7231278 |
308 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1434727098 CA390029965 |
309 | G>A | No |
ClinGen TOPMed gnomAD |
|
rs199658725 CA7231275 |
309 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs199658725 CA7231276 |
309 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764135314 CA7231274 |
311 | A>T | No |
ClinGen ExAC gnomAD |
|
CA7231272 rs775682407 |
312 | S>L | No |
ClinGen ExAC gnomAD |
|
rs1387815749 CA390029926 |
313 | D>E | No |
ClinGen gnomAD |
|
CA390029943 rs1196226577 |
313 | D>N | No |
ClinGen gnomAD |
|
CA7231270 rs746095514 |
314 | L>P | No |
ClinGen ExAC gnomAD |
|
CA390029919 rs746095514 |
314 | L>R | No |
ClinGen ExAC gnomAD |
|
rs1566770865 CA390029882 |
317 | W>L | No |
ClinGen Ensembl |
|
CA262654361 COSM957076 rs1024800811 |
319 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
rs202239352 CA7231267 |
322 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1374707569 CA390029614 |
323 | T>I | No |
ClinGen gnomAD |
|
rs1424410096 CA390029585 |
324 | V>A | No |
ClinGen gnomAD |
|
rs1333389950 CA390029599 |
324 | V>I | No |
ClinGen gnomAD |
|
CA7231264 RCV001812968 rs143293179 |
328 | R>C | Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] | No |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
rs779720812 CA7231263 |
328 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1175103350 CA390029315 |
332 | N>S | No |
ClinGen gnomAD |
|
CA7231261 rs750069570 |
333 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA7231259 rs200381147 |
335 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1205242254 CA390029197 |
336 | G>D | No |
ClinGen gnomAD |
|
rs1197265603 CA390029165 |
337 | V>A | No |
ClinGen gnomAD |
|
rs1009915997 COSM433257 CA262654244 |
337 | V>I | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA7231255 rs149837193 |
343 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1238023863 CA390028901 |
345 | S>C | No |
ClinGen TOPMed gnomAD |
|
CA390028879 rs1376322051 |
346 | T>I | No |
ClinGen gnomAD |
|
CA390028888 rs1594789979 |
346 | T>P | No |
ClinGen Ensembl |
|
CA390028880 rs1376322051 |
346 | T>S | No |
ClinGen gnomAD |
|
CA7231252 rs139871838 |
348 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7231253 rs139871838 |
348 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7231251 rs373606427 |
348 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7231250 rs763297500 |
349 | T>I | No |
ClinGen ExAC gnomAD |
|
rs1355427206 CA390028711 |
352 | K>N | No |
ClinGen TOPMed |
|
CA7231247 rs748666173 |
353 | P>L | No |
ClinGen ExAC gnomAD |
|
CA7231245 rs771726421 |
354 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390028678 rs1566770599 |
354 | P>S | No |
ClinGen Ensembl |
|
CA390027165 rs1211685510 |
358 | E>D | No |
ClinGen TOPMed gnomAD |
|
rs376523884 CA7231222 |
362 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7231221 rs749002006 |
362 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390027033 rs1594787727 |
365 | L>R | No |
ClinGen Ensembl |
|
CA390026982 rs1594787713 |
368 | T>P | No |
ClinGen Ensembl |
|
rs752604792 CA7231218 |
369 | I>F | No |
ClinGen ExAC gnomAD |
|
CA390026936 rs1594787698 |
370 | Q>K | No |
ClinGen Ensembl |
|
rs781176597 CA7231217 |
370 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs200215995 CA7231216 |
372 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1019802326 CA262651986 |
372 | R>W | No |
ClinGen TOPMed |
|
CA390026855 rs1167992290 |
373 | M>I | No |
ClinGen gnomAD |
|
rs1466812782 CA390026849 |
374 | R>G | No |
ClinGen TOPMed gnomAD |
|
RCV001000816 CA390026837 rs1594787664 |
374 | R>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
CA390026827 rs1378864273 |
375 | A>P | No |
ClinGen TOPMed gnomAD |
|
rs766483443 CA7231214 |
375 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7231213 rs763042691 |
377 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390026703 rs1449934124 |
381 | Y>H | No |
ClinGen gnomAD |
|
CA390026658 rs1266679700 |
383 | P>L | No |
ClinGen gnomAD |
|
CA7231211 COSM338999 rs762308704 |
384 | H>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA390026655 rs1199372701 |
384 | H>Y | No |
ClinGen gnomAD |
|
CA7231208 rs764565903 |
385 | D>E | No |
ClinGen ExAC gnomAD |
|
rs777273263 CA390026632 |
385 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777273263 CA7231209 |
385 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7231207 rs761256991 |
386 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390026613 rs761256991 |
386 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773696890 CA7231206 |
389 | V>A | No |
ClinGen ExAC |
|
rs1276536864 CA390026543 |
390 | S>C | No |
ClinGen gnomAD |
|
CA7231205 rs770497779 |
392 | I>T | No |
ClinGen ExAC gnomAD |
|
rs982432003 CA262651926 |
392 | I>V | No |
ClinGen TOPMed |
|
CA262651901 rs954194255 |
393 | N>S | No |
ClinGen gnomAD |
|
rs748918482 CA7231204 |
394 | R>T | No |
ClinGen ExAC gnomAD |
|
rs768515967 CA7231182 |
395 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390025381 rs1266357450 |
395 | A>T | No |
ClinGen TOPMed |
|
rs768515967 CA7231183 |
395 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746893701 CA7231181 |
402 | A>T | No |
ClinGen ExAC gnomAD |
|
rs780076416 CA7231180 |
402 | A>V | No |
ClinGen ExAC gnomAD |
|
CA390025215 rs1473222862 |
404 | Y>C | No |
ClinGen TOPMed gnomAD |
|
rs372478057 CA7231179 |
405 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA262651032 rs994269978 |
405 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA7231177 rs147447737 |
406 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs779318405 CA7231178 |
406 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7231176 rs200997767 |
407 | E>G | No |
ClinGen ExAC gnomAD |
|
CA262650984 rs78857753 |
408 | L>V | No |
ClinGen Ensembl |
|
CA390025161 rs1228426511 |
409 | A>V | No |
ClinGen gnomAD |
|
rs764345236 CA7231174 |
410 | L>M | No |
ClinGen ExAC |
|
CA262650963 rs1045761828 |
410 | L>P | No |
ClinGen Ensembl |
|
rs868858742 CA262650956 |
411 | R>K | No |
ClinGen Ensembl |
|
rs950142836 CA262650952 |
412 | N>I | No |
ClinGen TOPMed gnomAD |
|
CA7231172 rs753141325 |
416 | R>Q | No |
ClinGen ExAC |
|
rs756541394 CA7231173 |
416 | R>W | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs749872891 CA7231169 |
421 | E>G | No |
ClinGen ExAC gnomAD |
|
CA7231170 rs142982338 |
421 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA390025036 rs749872891 |
421 | E>V | No |
ClinGen ExAC gnomAD |
|
CA390025032 rs1307268322 |
422 | Q>E | No |
ClinGen TOPMed |
|
rs764755827 CA7231168 |
423 | L>V | No |
ClinGen ExAC |
|
CA7231165 rs374066115 |
425 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7231166 COSM470130 rs200818459 |
425 | R>W | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA7231164 rs557868487 |
426 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs977348778 CA262650888 |
426 | R>H | No |
ClinGen gnomAD |
|
rs977348778 CA262650887 |
426 | R>P | No |
ClinGen gnomAD |
|
rs775276485 CA390024953 |
429 | R>W | No |
ClinGen ExAC gnomAD |
|
CA390024890 rs1195596537 |
431 | A>S | No |
ClinGen TOPMed gnomAD |
|
CA390024882 rs1285270460 |
432 | A>T | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA262650814 rs867629503 |
433 | M>I | No |
ClinGen Ensembl |
|
CA7231159 rs143289471 |
433 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs779089363 CA7231160 |
433 | M>V | No |
ClinGen ExAC gnomAD |
|
CA262650803 rs953282126 |
436 | T>S | No |
ClinGen Ensembl |
|
CA7231155 CA390024730 rs753052140 |
439 | S>R | No |
ClinGen ExAC gnomAD |
|
rs781543548 CA7231154 |
442 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA7231153 COSM1227457 rs372278924 |
443 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1594786052 CA390024628 |
445 | V>M | No |
ClinGen Ensembl |
|
CA390024606 rs1162777186 |
446 | A>V | No |
ClinGen gnomAD |
|
rs755750964 CA7231130 |
448 | D>G | No |
ClinGen ExAC gnomAD |
|
CA7231131 rs150698819 |
448 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7231129 rs752448028 |
450 | F>S | No |
ClinGen ExAC |
|
CA7231127 rs759470847 |
451 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390024299 rs1594785227 |
453 | D>A | No |
ClinGen Ensembl |
|
CA390024295 rs200407185 |
453 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs568264177 CA7231126 |
453 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs576643197 CA262649984 |
456 | A>S | No |
ClinGen TOPMed gnomAD |
|
CA390024229 rs1594785207 |
457 | V>G | No |
ClinGen Ensembl |
|
CA7231122 rs377510670 |
460 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1594785199 CA390024188 |
461 | K>Q | No |
ClinGen Ensembl |
|
rs748376558 CA7231121 |
461 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7231120 rs373287476 |
462 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
CA390024138 rs1173000675 |
464 | H>Y | No |
ClinGen gnomAD |
|
CA262649941 rs1034917443 |
467 | I>V | No |
ClinGen gnomAD |
|
CA390024085 rs1418100152 |
468 | E>K | No |
ClinGen gnomAD |
|
CA7231116 rs758872603 |
470 | D>N | No |
ClinGen ExAC gnomAD |
|
rs746390869 CA7231115 |
471 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1594785170 CA390024048 |
471 | T>P | No |
ClinGen Ensembl |
|
CA390024017 rs1566766968 |
473 | A>V | No |
ClinGen Ensembl |
|
CA262649911 rs778518936 |
474 | Y>C | No |
ClinGen Ensembl |
|
rs200071450 CA7231112 |
475 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1288189443 CA390023989 |
476 | E>* | No |
ClinGen gnomAD |
|
CA390023991 rs1288189443 |
476 | E>K | No |
ClinGen gnomAD |
|
CA390023984 rs1238093921 |
476 | E>V | No |
ClinGen gnomAD |
|
rs767337494 CA7231111 |
477 | R>Q | No |
ClinGen ExAC |
|
CA390023959 rs1594785116 |
478 | V>G | No |
ClinGen Ensembl |
|
rs1594785122 CA390023968 |
478 | V>M | No |
ClinGen Ensembl |
|
CA390023957 rs1335363319 |
479 | R>G | No |
ClinGen gnomAD |
|
CA7231110 rs754692333 |
480 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1377891764 CA390023939 |
480 | A>V | No |
ClinGen TOPMed |
|
CA7231109 rs751336266 |
481 | L>V | No |
ClinGen ExAC |
|
CA7231108 rs766122956 |
486 | Q>K | No |
ClinGen ExAC gnomAD |
|
rs762902447 CA7231107 |
489 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390023836 rs762902447 |
489 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773068965 CA7231106 |
494 | H>Y | No |
ClinGen ExAC |
|
CA390023707 rs1312059301 |
497 | K>N | No |
ClinGen gnomAD |
|
rs144624027 RCV001812278 CA7231104 |
498 | R>C | Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
CA7231105 rs144624027 |
498 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7231102 rs768807740 |
499 | I>N | No |
ClinGen ExAC gnomAD |
|
CA390023675 rs1325711290 |
499 | I>V | No |
ClinGen TOPMed |
|
rs775790438 CA7231100 COSM957074 |
500 | T>A | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs371029401 CA7231099 |
500 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs550344847 CA7231097 |
501 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs769871954 CA7231095 |
502 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs754641316 CA7231093 |
503 | K>E | No |
ClinGen ExAC gnomAD |
|
rs751281187 CA7231092 |
503 | K>N | No |
ClinGen ExAC gnomAD |
|
CA262649782 rs981578613 |
505 | N>H | No |
ClinGen TOPMed |
|
CA7231090 rs377621722 |
506 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs750365417 COSM2248696 CA7231089 |
508 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs142541718 CA7231088 |
508 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1200072657 CA390023324 |
511 | S>N | No |
ClinGen TOPMed |
|
CA390023285 rs753847520 |
512 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA7231086 rs753847520 |
512 | Y>F | No |
ClinGen ExAC gnomAD |
|
CA390023283 rs753847520 |
512 | Y>S | No |
ClinGen ExAC gnomAD |
|
CA390023177 rs1296320449 |
515 | E>D | No |
ClinGen gnomAD |
|
CA390023174 rs1381156110 |
516 | L>M | No |
ClinGen gnomAD |
|
rs1469177099 CA390023169 |
516 | L>Q | No |
ClinGen TOPMed |
|
COSM957073 rs1181994000 CA390023097 |
520 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
CA7231084 rs760837664 |
521 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs760837664 COSM315579 CA390023076 |
521 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs772481672 CA7231082 |
523 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7231080 rs55752508 VAR_061084 |
525 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
rs55752508 CA262649705 |
525 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1594784903 CA390022980 |
527 | T>P | No |
ClinGen Ensembl |
|
rs969131309 CA262649688 |
528 | L>P | No |
ClinGen Ensembl |
|
CA390022963 rs1377106577 |
529 | A>P | No |
ClinGen TOPMed |
|
rs780802539 CA7231077 |
530 | L>V | No |
ClinGen ExAC gnomAD |
|
rs573438233 CA7231075 |
535 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs758196795 CA7231073 |
539 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7231072 rs750124646 |
540 | S>N | No |
ClinGen ExAC gnomAD |
|
rs140225792 CA7231070 |
542 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
CA390022784 rs1384605202 |
543 | W>R | No |
ClinGen gnomAD |
|
rs267604023 CA262649636 |
544 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs1232155679 CA390021864 |
550 | H>L | No |
ClinGen TOPMed |
|
rs539283144 CA7231048 |
550 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA7231047 rs767667413 |
551 | L>F | No |
ClinGen ExAC gnomAD |
|
rs368886050 CA7231046 |
551 | L>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA390021836 rs1280642082 |
552 | L>F | No |
ClinGen gnomAD |
|
rs376738838 CA7231045 |
553 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1208559492 CA390021835 |
553 | S>P | No |
ClinGen TOPMed gnomAD |
|
rs1003421463 CA262648794 |
554 | A>D | No |
ClinGen Ensembl |
|
CA7231044 rs766824367 |
554 | A>T | No |
ClinGen ExAC gnomAD |
|
CA390021821 rs1278642208 |
555 | E>D | No |
ClinGen gnomAD |
|
CA7231043 rs570709723 |
555 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA390021811 rs1441917693 |
557 | G>R | No |
ClinGen gnomAD |
|
CA390021784 rs1315196865 |
560 | L>F | No |
ClinGen gnomAD |
|
rs765778666 CA7231041 |
562 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7231040 rs762383059 |
563 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7231038 rs771632136 |
565 | D>E | No |
ClinGen ExAC gnomAD |
|
rs556939239 CA7231037 |
566 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs770700837 CA7231035 |
569 | K>E | No |
ClinGen ExAC gnomAD |
|
rs1267571960 CA390021676 |
570 | H>Y | No |
ClinGen TOPMed |
|
rs777550092 CA7231033 |
572 | L>V | No |
ClinGen ExAC gnomAD |
|
CA390021639 rs1485283390 |
573 | M>V | No |
ClinGen gnomAD |
|
CA390021602 rs1455343299 |
575 | A>D | No |
ClinGen TOPMed |
|
rs144668591 CA7231032 |
577 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs781111810 CA7231030 |
578 | A>T | No |
ClinGen ExAC gnomAD |
|
rs776683477 CA7231029 |
580 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs766762166 CA262648693 |
582 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1033968687 CA262648671 |
583 | K>T | No |
ClinGen TOPMed gnomAD |
|
CA7231026 rs758702417 |
584 | V>A | No |
ClinGen ExAC gnomAD |
|
rs903631784 CA262648643 |
586 | A>T | No |
ClinGen Ensembl |
|
CA390021407 rs1343438732 |
590 | A>T | No |
ClinGen gnomAD |
|
rs1416270783 CA390021303 |
595 | T>I | No |
ClinGen gnomAD |
|
rs759151834 CA7231020 |
596 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA7231019 rs773865584 |
597 | G>E | No |
ClinGen ExAC gnomAD |
|
rs748973588 CA7231017 |
598 | K>Q | No |
ClinGen ExAC gnomAD |
|
rs765897258 CA7231000 |
600 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1018237397 CA262647982 |
600 | Y>F | No |
ClinGen gnomAD |
|
CA390021057 rs1196623209 |
603 | C>Y | No |
ClinGen TOPMed |
|
rs772895139 CA7230998 |
605 | P>L | No |
ClinGen ExAC gnomAD |
|
CA390021012 rs1219878096 |
605 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs1301348044 CA390020987 |
607 | V>A | No |
ClinGen gnomAD |
|
rs1377963089 CA390020944 |
610 | D>V | No |
ClinGen gnomAD |
|
CA7230996 rs761729520 |
611 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs148927610 CA7230995 |
611 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA262647952 rs148927610 |
611 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA390020912 rs1353840648 |
613 | S>G | No |
ClinGen gnomAD |
|
CA262647947 rs1034587612 |
617 | Q>L | No |
ClinGen TOPMed |
|
rs1415427504 CA390020816 |
619 | F>I | No |
ClinGen TOPMed |
|
rs1439882520 CA390020779 |
621 | E>K | No |
ClinGen gnomAD |
|
rs779261630 CA7230989 |
624 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390020706 rs1328766457 CA390020707 |
625 | M>I | No |
ClinGen TOPMed |
|
CA390020719 rs1397944514 |
625 | M>V | No |
ClinGen TOPMed |
|
rs757548423 CA7230988 |
626 | A>E | No |
ClinGen ExAC gnomAD |
|
rs1594783138 CA390020683 |
627 | A>G | No |
ClinGen Ensembl |
|
CA7230987 rs754164238 |
628 | G>R | No |
ClinGen ExAC gnomAD |
|
CA7230985 rs375567377 |
629 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7230986 rs778031606 |
629 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA390020637 rs1278230826 |
631 | A>S | No |
ClinGen TOPMed gnomAD |
|
CA390020640 rs1278230826 |
631 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1355258527 CA390020621 |
632 | Q>R | No |
ClinGen TOPMed |
|
rs1372257114 CA390020555 |
637 | K>R | No |
ClinGen gnomAD |
|
rs371216825 CA262647933 COSM1707463 |
638 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
rs1347159378 CA390020524 |
640 | W>R | No |
ClinGen gnomAD |
|
rs750065922 CA7230981 |
642 | F>L | No |
ClinGen ExAC gnomAD |
|
rs1373593604 CA390020472 |
643 | F>V | No |
ClinGen gnomAD |
|
rs764890720 CA7230980 |
644 | W>R | No |
ClinGen ExAC gnomAD |
|
rs2082718032 RCV001812455 |
645 | E>* | No |
ClinVar dbSNP |
|
CA390020426 rs1316572886 |
645 | E>D | No |
ClinGen gnomAD |
|
rs761372149 CA7230978 |
646 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA262647923 rs993529208 |
650 | E>Q | No |
ClinGen TOPMed |
|
rs776443913 CA7230977 |
651 | S>G | No |
ClinGen ExAC gnomAD |
|
CA390020301 rs1250189126 |
654 | K>E | No |
ClinGen gnomAD |
|
CA390020294 rs1189125436 |
654 | K>R | No |
ClinGen gnomAD |
|
CA7230975 rs377670964 |
656 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs775607932 CA7230974 |
657 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390020220 rs1210232258 |
659 | I>F | No |
ClinGen gnomAD |
|
CA390020221 rs1210232258 |
659 | I>V | No |
ClinGen gnomAD |
|
rs375659876 CA7230973 |
660 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7230972 rs375659876 |
660 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA262647902 rs1056571409 |
662 | S>Y | No |
ClinGen TOPMed |
|
CA390020163 rs1237082371 |
663 | L>P | No |
ClinGen gnomAD |
|
rs749496373 CA7230969 |
664 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs141730908 CA7230970 |
664 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs141730908 CA262647855 |
664 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs765506008 CA262647854 |
665 | Y>H | No |
ClinGen gnomAD |
|
CA262647852 rs995821770 |
666 | G>D | No |
ClinGen TOPMed gnomAD |
|
rs900152568 CA262647848 |
668 | D>E | No |
ClinGen TOPMed gnomAD |
|
rs778179430 CA7230968 |
670 | T>I | No |
ClinGen ExAC gnomAD |
|
rs1286630711 CA390019964 |
672 | V>M | No |
ClinGen gnomAD |
|
CA390019882 rs1297984865 |
675 | L>F | No |
ClinGen TOPMed |
|
rs1166073457 CA390019865 |
676 | Q>P | No |
ClinGen gnomAD |
|
CA390019867 rs1166073457 |
676 | Q>R | No |
ClinGen gnomAD |
|
COSM957072 CA7230964 rs755493619 |
677 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs138774947 CA7230963 |
677 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs936565423 CA262647780 |
681 | A>D | No |
ClinGen TOPMed gnomAD |
|
rs753480687 CA390019583 |
684 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756881722 CA7230961 |
684 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1485648469 CA390019593 |
684 | D>V | No |
ClinGen gnomAD |
|
CA7230959 rs763916428 |
687 | R>C | No |
ClinGen ExAC gnomAD |
|
CA390019469 rs1390983563 |
690 | D>A | No |
ClinGen gnomAD |
|
rs868450644 CA262647702 |
692 | H>Q | No |
ClinGen Ensembl |
|
rs987994868 CA262647709 |
692 | H>Y | No |
ClinGen Ensembl |
|
CA390019325 CA7230953 rs770967001 |
695 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7230952 rs749496235 |
696 | I>N | No |
ClinGen ExAC |
|
rs1392664372 CA390019320 |
696 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs773376094 CA7230951 |
697 | F>S | No |
ClinGen ExAC gnomAD |
|
CA7230950 rs770132994 |
698 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs748458507 CA7230949 |
700 | A>V | No |
ClinGen ExAC gnomAD |
|
rs946135261 CA262647608 |
701 | H>R | No |
ClinGen TOPMed gnomAD |
|
CA7230948 rs781545542 |
701 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs112923222 CA390019126 |
705 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1467323426 CA390019138 |
705 | A>T | No |
ClinGen gnomAD |
|
rs112923222 CA7230946 |
705 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
COSM1323429 CA7230942 rs201889680 |
706 | R>H | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs201889680 CA390019110 |
706 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs201889680 CA7230943 |
706 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1331108244 CA390019086 |
707 | K>N | No |
ClinGen TOPMed gnomAD |
|
CA390019056 rs1305006518 |
708 | Q>L | No |
ClinGen TOPMed gnomAD |
|
CA390019046 rs776701697 |
709 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7230941 rs776701697 |
709 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7230940 rs752501133 |
710 | G>R | No |
ClinGen ExAC gnomAD |
|
CA7230938 rs751493156 |
711 | H>Q | No |
ClinGen ExAC gnomAD |
|
CA390018953 rs1399245468 |
712 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs763003753 CA7230935 |
714 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7230934 rs773358270 |
715 | E>K | Variant assessed as Somatic; 9.246e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA390018894 rs1301121444 |
716 | A>D | No |
ClinGen TOPMed |
|
rs769940259 CA7230933 |
716 | A>P | No |
ClinGen ExAC gnomAD |
|
rs199594314 CA7230931 COSM3956154 |
717 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
CA390018884 rs199594314 |
717 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs769054911 CA7230930 |
718 | I>L | No |
ClinGen ExAC gnomAD |
|
rs769054911 CA390018878 |
718 | I>V | No |
ClinGen ExAC gnomAD |
|
rs780490335 CA7230928 |
719 | K>R | No |
ClinGen ExAC gnomAD |
|
CA7230927 rs369224543 |
720 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA390018830 rs1231488517 |
721 | V>L | No |
ClinGen TOPMed gnomAD |
|
rs150328574 CA7230925 |
722 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7230923 rs752447945 |
723 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390018807 rs752447945 |
723 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390018791 rs1327286039 |
724 | Q>* | No |
ClinGen gnomAD |
|
rs781104894 CA7230922 |
725 | W>C | No |
ClinGen ExAC gnomAD |
|
CA390018750 rs1175567202 |
726 | D>E | No |
ClinGen gnomAD |
|
CA390018759 rs1376630629 |
726 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA390018731 rs1432995300 |
727 | Q>H | No |
ClinGen gnomAD |
|
rs1594782650 CA390018740 |
727 | Q>P | No |
ClinGen Ensembl |
|
rs963622491 CA262647487 |
729 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA390018690 rs1159293569 |
730 | D>E | No |
ClinGen gnomAD |
|
CA390018685 rs1471286182 |
731 | L>V | No |
ClinGen TOPMed gnomAD |
|
CA262647476 rs868474604 COSM140032 |
732 | A>T | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
CA7230921 RCV000415846 rs772434433 |
733 | A>P | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7230920 rs751504585 |
733 | A>V | No |
ClinGen ExAC |
|
CA390018595 rs1180860976 |
737 | K>N | No |
ClinGen TOPMed gnomAD |
|
CA262647467 rs536482067 |
738 | N>S | No |
ClinGen 1000Genomes |
|
CA7230919 rs766172170 |
739 | L>F | No |
ClinGen ExAC gnomAD |
|
CA390018551 rs1485098539 |
740 | Q>H | No |
ClinGen gnomAD |
|
CA390018556 rs1208086065 |
740 | Q>R | No |
ClinGen gnomAD |
|
rs1284351415 CA390018548 |
741 | D>H | No |
ClinGen gnomAD |
|
CA7230915 rs369831704 |
743 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
CA390018467 rs1003635786 |
746 | F>C | No |
ClinGen Ensembl |
|
rs1278111786 CA390018475 |
746 | F>L | No |
ClinGen gnomAD |
|
CA262647407 rs1003635786 |
746 | F>S | No |
ClinGen Ensembl |
|
CA390018439 rs1228210390 |
748 | F>S | No |
ClinGen gnomAD |
|
CA7230913 rs769001913 |
749 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1402625880 CA390018396 |
751 | D>G | No |
ClinGen gnomAD |
|
rs775936031 CA7230911 |
751 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA390018382 rs151164761 |
752 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
rs1045108609 CA262647366 |
752 | A>T | No |
ClinGen Ensembl |
|
CA7230910 rs151164761 |
752 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
rs1475445478 CA390018378 |
753 | D>N | No |
ClinGen gnomAD |
|
CA7230908 rs776388224 |
756 | K>E | No |
ClinGen ExAC gnomAD |
|
rs1474848178 CA390018284 |
758 | W>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA390018230 rs769469651 |
760 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390018222 rs1594782497 |
761 | D>Y | No |
ClinGen Ensembl |
|
CA262647338 rs369439568 |
762 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
rs369439568 CA390018199 |
762 | A>T | Variant assessed as Somatic; 9.706e-05 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
rs1052362411 CA262647330 |
763 | H>L | No |
ClinGen Ensembl |
|
CA7230904 rs754670202 |
764 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7230905 rs754670202 |
764 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
RCV000756713 rs376198076 CA262647329 |
764 | R>W | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs751243495 CA7230903 |
766 | L>F | No |
ClinGen ExAC TOPMed |
|
rs779925712 CA7230902 |
767 | S>T | No |
ClinGen ExAC |
|
rs757397544 CA7230898 |
771 | V>G | No |
ClinGen ExAC gnomAD |
|
rs141749822 CA7230897 |
772 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA390017983 rs1343640117 |
772 | G>R | No |
ClinGen gnomAD |
|
rs1396334985 CA390017968 |
773 | Q>K | No |
ClinGen gnomAD |
|
rs1162556241 CA390017948 |
774 | D>V | No |
ClinGen gnomAD |
|
CA7230895 rs551791156 |
775 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA390017919 rs1187745599 |
777 | A>T | No |
ClinGen gnomAD |
|
CA390017907 rs1594782394 |
778 | T>A | No |
ClinGen Ensembl |
|
rs371595430 CA7230894 |
778 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7230893 rs371595430 |
778 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs150063025 COSM1266748 CA7230890 |
779 | R>Q | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs200389830 CA7230891 |
779 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1275392695 CA390017890 |
780 | A>T | No |
ClinGen gnomAD |
|
CA7230889 rs747601257 |
781 | L>P | No |
ClinGen ExAC gnomAD |
|
CA390017864 rs1216398547 |
782 | G>E | No |
ClinGen gnomAD |
|
CA7230888 rs776282987 |
782 | G>R | No |
ClinGen ExAC gnomAD |
|
CA7230887 rs768150365 |
783 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA262647277 rs983773153 |
783 | K>R | No |
ClinGen gnomAD |
|
CA390017807 rs1357166979 |
786 | K>R | No |
ClinGen TOPMed |
|
rs746692205 CA7230886 |
788 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7230885 rs559474125 |
796 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
COSM247592 CA7230884 rs779141940 |
796 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs768427782 CA262647257 |
797 | G>E | No |
ClinGen gnomAD |
|
rs778881764 CA7230882 CA390017662 |
797 | G>R | No |
ClinGen ExAC gnomAD |
|
CA262647255 rs902395486 |
800 | E>G | No |
ClinGen TOPMed gnomAD |
|
CA7230881 rs757201845 |
801 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7230880 rs566689631 |
803 | E>* | No |
ClinGen ExAC gnomAD |
|
CA7230879 rs546740686 |
803 | E>G | No |
ClinGen ExAC gnomAD |
|
CA7230877 rs753002999 |
804 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1233823929 CA390016624 |
810 | P>L | No |
ClinGen gnomAD |
|
CA7230876 rs767767799 |
810 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs140584449 CA7230873 |
811 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7230872 rs144888014 |
812 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7230870 rs148718822 |
814 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7230871 rs148718822 |
814 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7230868 rs775282320 |
815 | D>N | No |
ClinGen ExAC gnomAD |
|
CA7230867 rs771843664 |
815 | D>V | No |
ClinGen ExAC gnomAD |
|
rs778685523 CA7230865 |
820 | T>A | No |
ClinGen ExAC gnomAD |
|
CA7230864 rs368515091 |
820 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7230862 rs777683294 |
821 | H>R | No |
ClinGen ExAC gnomAD |
|
rs1174835310 CA390016555 |
822 | R>Q | No |
ClinGen gnomAD |
|
rs201338747 CA7230861 |
822 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1409112163 CA390016548 |
823 | L>Q | No |
ClinGen gnomAD |
|
rs752847367 CA7230860 |
824 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7230858 rs150013838 |
827 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201451634 CA7230859 |
827 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7230857 rs751929073 |
829 | L>V | No |
ClinGen ExAC gnomAD |
|
CA390016504 rs1486735780 |
831 | Q>E | No |
ClinGen gnomAD |
|
rs766869436 CA7230856 |
831 | Q>R | No |
ClinGen ExAC |
|
rs1594782154 CA390016486 |
833 | V>G | No |
ClinGen Ensembl |
|
CA7230855 rs763528404 |
833 | V>M | No |
ClinGen ExAC gnomAD |
|
CA390016482 rs1308836800 |
834 | V>E | No |
ClinGen TOPMed gnomAD |
|
CA390016480 rs1308836800 |
834 | V>G | No |
ClinGen TOPMed gnomAD |
|
rs139325158 CA7230853 |
837 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs139325158 CA7230852 |
837 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs759218961 COSM194076 CA7230849 |
840 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA7230847 rs770752260 |
844 | L>P | No |
ClinGen ExAC gnomAD |
|
CA390016413 rs1161709794 |
845 | Q>R | No |
ClinGen gnomAD |
|
RCV001290763 rs2082703730 |
847 | A>missing | No |
ClinVar dbSNP |
|
CA390016396 rs1215505905 |
847 | A>V | No |
ClinGen Ensembl |
|
CA390016378 rs1471849890 |
850 | L>P | No |
ClinGen gnomAD |
|
rs370204007 CA262647087 |
851 | Y>C | No |
ClinGen ESP TOPMed |
|
rs753867736 CA262647056 COSM1227462 |
852 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA262647063 rs753867736 |
852 | T>R | No |
ClinGen TOPMed gnomAD |
|
rs1254118286 CA390016362 |
853 | V>L | No |
ClinGen gnomAD |
|
rs12433436 CA390016352 |
854 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs748190264 CA7230842 CA390016350 |
855 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755198398 CA7230840 |
856 | E>K | No |
ClinGen ExAC TOPMed |
|
CA390016332 rs1328144787 |
857 | T>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1054843687 CA262647031 |
858 | D>N | No |
ClinGen TOPMed |
|
rs942424375 COSM1177615 CA262647018 |
859 | A>T | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
rs1235010327 CA390016320 |
859 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA7230839 rs780538811 |
861 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390016282 rs750883612 CA7230836 |
864 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1363623560 CA390016288 |
864 | M>V | No |
ClinGen TOPMed gnomAD |
|
CA7230835 rs567473643 |
865 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs762232792 CA7230834 |
869 | K>E | No |
ClinGen ExAC |
|
CA390016237 rs1388294619 |
870 | W>C | No |
ClinGen TOPMed gnomAD |
|
rs1171931483 CA390016236 |
871 | L>M | No |
ClinGen TOPMed |
|
CA7230833 rs752212117 |
873 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA390016200 rs1298161867 |
876 | M>V | No |
ClinGen gnomAD |
|
rs770698912 CA7230829 |
880 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762750732 CA7230827 |
881 | E>K | No |
ClinGen ExAC |
|
rs918255341 CA262646978 |
882 | D>G | No |
ClinGen TOPMed |
|
CA262646984 rs181243939 |
882 | D>N | No |
ClinGen 1000Genomes |
|
CA7230826 rs772885580 |
883 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1594781923 CA390015816 |
885 | V>G | No |
ClinGen Ensembl |
|
rs146031194 CA7230824 |
886 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7230821 rs747235133 |
887 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA262646963 rs868238812 |
887 | Q>R | No |
ClinGen Ensembl |
|
CA390015775 rs1354144509 |
888 | H>Q | No |
ClinGen gnomAD |
|
CA390015783 rs1226990297 |
888 | H>R | No |
ClinGen TOPMed |
|
CA7230820 rs780485535 |
888 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs758566525 CA7230819 |
889 | R>K | No |
ClinGen ExAC gnomAD |
|
CA7230800 rs779314843 |
890 | F>L | No |
ClinGen ExAC gnomAD |
|
CA7230798 rs749781587 |
891 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1566762838 CA390015664 |
894 | D>Y | No |
ClinGen Ensembl |
|
rs980370978 CA262646224 |
896 | E>K | No |
ClinGen TOPMed |
|
CA390015601 rs1376811028 |
897 | M>I | No |
ClinGen gnomAD |
|
CA7230796 rs376848372 |
897 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs373593599 CA7230795 |
899 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA390015540 rs1439464736 |
902 | T>I | No |
ClinGen gnomAD |
|
rs746868966 CA262646192 |
903 | Q>H | No |
ClinGen Ensembl |
|
CA390015528 rs1249597109 |
904 | I>T | No |
ClinGen gnomAD |
|
rs765893110 CA7230794 |
906 | G>D | No |
ClinGen ExAC gnomAD |
|
CA7230793 rs758045310 |
907 | V>A | No |
ClinGen ExAC gnomAD |
|
CA390015506 rs1306830178 |
908 | N>D | No |
ClinGen gnomAD |
|
rs750079421 RCV000761883 CA7230792 |
908 | N>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA390015493 rs1566762795 |
910 | A>T | No |
ClinGen Ensembl |
|
CA7230789 rs776584817 |
911 | A>T | No |
ClinGen ExAC gnomAD |
|
CA7230788 rs764059771 |
912 | N>K | No |
ClinGen ExAC gnomAD |
|
CA390015480 rs1594780839 |
912 | N>S | No |
ClinGen Ensembl |
|
CA7230787 rs142637501 |
913 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs775663450 CA7230786 |
913 | S>R | No |
ClinGen ExAC gnomAD |
|
CA390015464 rs1282438063 |
914 | L>F | No |
ClinGen TOPMed |
|
rs1409755521 CA390015468 |
914 | L>W | No |
ClinGen gnomAD |
|
CA390015448 rs1376089312 |
917 | S>G | No |
ClinGen gnomAD |
|
CA262646103 rs951323347 |
919 | H>R | No |
ClinGen TOPMed |
|
rs772095325 CA7230785 |
919 | H>Y | No |
ClinGen ExAC TOPMed |
|
CA390015428 rs1401823259 |
920 | P>A | No |
ClinGen gnomAD |
|
rs944154148 CA262646099 |
920 | P>L | No |
ClinGen Ensembl |
|
rs1401823259 CA390015429 |
920 | P>T | No |
ClinGen gnomAD |
|
rs564951922 CA7230783 |
921 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs147984790 CA7230782 |
921 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
rs564951922 CA7230784 |
921 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs199859148 CA7230781 |
922 | S>G | No |
ClinGen ExAC gnomAD |
|
rs1181287253 CA390015418 |
922 | S>T | No |
ClinGen gnomAD |
|
CA390015396 rs1475506896 |
925 | V>E | No |
ClinGen gnomAD |
|
CA390015394 rs1475506896 |
925 | V>G | No |
ClinGen gnomAD |
|
CA390015376 rs1207462803 |
928 | Y>H | No |
ClinGen gnomAD |
|
rs1404767677 CA390015363 |
929 | Q>H | No |
ClinGen gnomAD |
|
CA262646061 COSM1290311 rs976167557 |
930 | D>G | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs770234768 CA7230779 |
930 | D>N | No |
ClinGen ExAC gnomAD |
|
rs1189194929 CA390015355 |
931 | H>Y | No |
ClinGen TOPMed |
|
CA390015331 rs1331593364 |
934 | T>N | No |
ClinGen TOPMed gnomAD |
|
rs1331593364 CA390015330 |
934 | T>S | No |
ClinGen TOPMed gnomAD |
|
rs199733111 CA7230757 |
936 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776193793 CA262704478 |
938 | A>S | No |
ClinGen Ensembl |
|
CA7230756 rs745310809 |
938 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs867901225 CA262704453 |
941 | T>N | No |
ClinGen gnomAD |
|
rs1404681447 CA390047810 |
943 | V>L | No |
ClinGen gnomAD |
|
rs1404681447 CA390047811 |
943 | V>M | No |
ClinGen gnomAD |
|
rs778518876 COSM957069 CA7230755 |
944 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA390047797 rs1293991279 |
945 | E>A | No |
ClinGen TOPMed |
|
CA7230752 rs374252512 |
946 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs753596088 CA7230753 |
946 | R>W | No |
ClinGen ExAC gnomAD |
|
CA7230750 rs752667759 |
947 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7230751 rs756040841 |
947 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA262704420 rs865914584 |
948 | E>G | No |
ClinGen gnomAD |
|
CA390047786 rs1248808289 |
948 | E>K | No |
ClinGen gnomAD |
|
CA390047775 rs1273842355 |
949 | A>G | No |
ClinGen gnomAD |
|
rs767289762 CA7230749 |
951 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA262704415 rs200830894 |
951 | D>G | No |
ClinGen gnomAD |
|
CA262704403 RCV001812415 rs983201841 |
953 | A>G | No |
ClinGen ClinVar TOPMed dbSNP |
|
CA262704376 rs935007562 |
954 | L>F | No |
ClinGen Ensembl |
|
CA7230747 rs370398211 COSM1227463 |
955 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA390047733 rs1566759394 |
957 | H>Y | No |
ClinGen Ensembl |
|
CA262704374 rs922976456 |
958 | N>D | No |
ClinGen TOPMed gnomAD |
|
rs1354994260 CA390047719 |
959 | Y>N | No |
ClinGen gnomAD |
|
rs200877686 CA7230746 |
960 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA390047710 rs1309335219 |
960 | C>Y | No |
ClinGen gnomAD |
|
rs149316006 RCV001508726 CA7230744 RCV000733349 |
961 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7230745 rs149316006 |
961 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7230743 rs367782249 |
963 | C>Y | No |
ClinGen ESP ExAC gnomAD |
|
rs777063192 CA7230741 |
964 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7230740 rs769006810 |
965 | E>D | No |
ClinGen ExAC gnomAD |
|
rs1175750348 CA390047654 |
968 | K>R | No |
ClinGen TOPMed |
|
rs138556050 CA7230739 COSM241752 |
971 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1408138151 CA390047615 |
973 | K>N | No |
ClinGen gnomAD |
|
CA390047589 rs986293048 |
977 | V>A | No |
ClinGen TOPMed gnomAD |
|
CA262704312 rs986293048 |
977 | V>G | No |
ClinGen TOPMed gnomAD |
|
CA7230734 rs72724498 |
978 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs777627078 CA7230735 |
978 | E>G | No |
ClinGen ExAC gnomAD |
|
CA7230736 rs748944269 |
978 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1314130251 CA390047583 |
979 | S>T | No |
ClinGen gnomAD |
|
CA262704272 rs543732559 |
984 | G>E | No |
ClinGen 1000Genomes gnomAD |
|
CA7230729 rs562590442 |
985 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
COSM1562577 CA7230730 rs371628390 |
985 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA7230728 rs758526994 |
986 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA390047532 rs1566759241 |
987 | L>R | No |
ClinGen Ensembl |
|
CA7230727 rs541056104 |
989 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA7230726 rs550669563 |
989 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390047512 rs1357023468 |
991 | I>V | No |
ClinGen gnomAD |
|
rs776814615 CA7230724 COSM1370624 |
992 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs761057312 CA7230722 |
994 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA7230721 rs776134235 |
999 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390047460 rs1251222122 |
999 | G>R | No |
ClinGen gnomAD |
|
CA7230716 rs146911028 |
1002 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7230717 rs146911028 |
1002 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7230715 rs780815297 |
1002 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs146911028 CA7230718 |
1002 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1226542860 CA390047435 |
1003 | D>V | No |
ClinGen gnomAD |
|
RCV001812280 CA7230712 rs779906104 |
1004 | V>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs151112486 CA390047421 |
1006 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs151112486 CA7230710 |
1006 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs370871216 CA7230709 |
1009 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs377620114 CA7230706 |
1010 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7230705 RCV001810654 rs556377923 |
1010 | R>H | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs377620114 CA7230707 |
1010 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7230704 rs776012646 |
1012 | D>N | No |
ClinGen ExAC gnomAD |
|
rs760141425 CA7230702 |
1014 | L>P | No |
ClinGen ExAC gnomAD |
|
COSM303294 rs573498417 CA7230701 |
1016 | R>C | Variant assessed as Somatic; 0.0 impact. central_nervous_system stomach [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
COSM2248634 rs769384891 CA7230700 |
1016 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs761363915 CA7230699 |
1017 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390047358 rs761363915 |
1017 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1341052202 CA390047337 |
1020 | Q>K | No |
ClinGen Ensembl |
|
CA390047334 rs1206538272 |
1020 | Q>P | No |
ClinGen gnomAD |
|
CA7230697 rs768203873 |
1022 | M>I | No |
ClinGen ExAC gnomAD |
|
CA7230698 rs776399099 |
1022 | M>T | No |
ClinGen ExAC gnomAD |
|
rs142823994 CA390047311 |
1023 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7230694 rs190108600 |
1024 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7230695 rs190108600 |
1024 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA390047303 rs1396905761 |
1025 | H>Y | No |
ClinGen gnomAD |
|
CA7230692 rs778936613 |
1026 | P>A | No |
ClinGen ExAC gnomAD |
|
CA390047281 rs1366865059 |
1028 | Q>R | No |
ClinGen gnomAD |
|
rs1232166362 CA390047273 |
1029 | K>T | No |
ClinGen TOPMed |
|
rs757425728 CA7230691 |
1030 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1047765 CA262704046 |
1031 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1164403722 CA390047246 |
1033 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA390047248 rs1164403722 |
1033 | G>S | No |
ClinGen TOPMed gnomAD |
|
CA390047239 rs1213126107 |
1034 | Q>R | No |
ClinGen TOPMed |
|
rs148507591 CA7230687 |
1035 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
rs1164127919 CA390047227 |
1036 | Q>R | No |
ClinGen gnomAD |
|
CA7230685 rs760088579 |
1038 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs986795772 CA262704000 |
1039 | L>V | No |
ClinGen TOPMed gnomAD |
|
CA390047202 rs1211615857 |
1040 | E>K | No |
ClinGen gnomAD |
|
rs1485350366 CA390047191 |
1041 | E>A | No |
ClinGen TOPMed |
|
rs764635536 CA7230683 |
1042 | L>P | No |
ClinGen ExAC gnomAD |
|
RCV001002152 rs1594775390 RCV003141926 CA390047180 |
1043 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
CA7230682 rs146819160 |
1043 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1228426231 CA390047164 |
1045 | G>S | No |
ClinGen gnomAD |
|
rs1424196999 CA390047161 |
1045 | G>V | No |
ClinGen TOPMed |
|
CA390047145 rs1343868033 |
1048 | Q>* | No |
ClinGen gnomAD |
|
rs199994404 CA262703975 |
1048 | Q>H | No |
ClinGen 1000Genomes |
|
CA390047129 rs1227199684 |
1051 | Q>K | No |
ClinGen gnomAD |
|
CA7230679 rs143644014 |
1052 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7230680 rs768317667 |
1052 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1389071244 CA390047101 |
1055 | D>N | No |
ClinGen gnomAD |
|
CA390047088 rs1594775353 |
1056 | L>F | No |
ClinGen Ensembl |
|
COSM1707461 CA390047081 rs1389145740 |
1058 | G>R | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA262703953 rs763939872 |
1058 | G>V | No |
ClinGen Ensembl |
|
rs962149048 CA262703950 |
1059 | E>A | No |
ClinGen Ensembl |
|
rs775248207 CA7230678 |
1059 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771898660 CA7230677 |
1060 | V>I | No |
ClinGen ExAC gnomAD |
|
CA390047046 rs1372481726 |
1063 | L>P | No |
ClinGen gnomAD |
|
rs375116881 CA390047037 |
1064 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA262703918 rs905862271 |
1066 | F>S | No |
ClinGen TOPMed |
|
CA7230674 rs770789297 |
1068 | Q>K | No |
ClinGen ExAC gnomAD |
|
CA7230673 rs371774042 |
1068 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs777736294 CA7230672 |
1072 | D>V | No |
ClinGen ExAC gnomAD |
|
CA262703885 rs1006492983 |
1073 | F>I | No |
ClinGen TOPMed |
|
CA390046979 rs1269972919 |
1073 | F>L | No |
ClinGen TOPMed |
|
rs1205252633 CA390046976 |
1074 | Q>E | No |
ClinGen gnomAD |
|
CA390046977 rs1205252633 |
1074 | Q>K | No |
ClinGen gnomAD |
|
CA390046965 rs1346219302 |
1075 | A>G | No |
ClinGen TOPMed |
|
CA7230670 rs45507992 |
1076 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7230671 rs756334913 |
1076 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1347462204 CA390046954 |
1077 | L>F | No |
ClinGen TOPMed |
|
CA7230669 rs200926839 |
1078 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7230668 rs755447675 |
1080 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1287097479 CA390046930 |
1081 | Q>R | No |
ClinGen Ensembl |
|
rs374585997 CA7230667 |
1083 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA390046908 rs1301265044 |
1084 | V>A | No |
ClinGen TOPMed gnomAD |
|
rs766839603 CA7230666 |
1085 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390046885 rs1429381408 |
1088 | D>Y | No |
ClinGen gnomAD |
|
CA7230664 rs753342542 |
1089 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7230662 rs760294011 |
1091 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390046857 rs1318178118 |
1092 | S>P | No |
ClinGen TOPMed |
|
rs1376847984 CA390046850 |
1093 | L>F | No |
ClinGen gnomAD |
|
CA262703771 rs201653621 |
1095 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA262703763 rs1023515670 |
1096 | A>T | No |
ClinGen TOPMed |
|
CA390046815 rs1180768765 |
1098 | Q>H | No |
ClinGen gnomAD |
|
CA7230661 rs138439282 |
1098 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA390046813 rs1370491661 |
1099 | L>F | No |
ClinGen TOPMed |
|
COSM1370622 rs1241237774 CA390046790 |
1102 | Q>R | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
CA390046780 rs1198368141 |
1103 | H>Q | No |
ClinGen TOPMed gnomAD |
|
rs759269770 CA7230659 |
1103 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390046775 rs374648585 |
1104 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs893624840 CA262703702 |
1106 | I>M | No |
ClinGen TOPMed gnomAD |
|
rs770863430 CA7230657 |
1106 | I>V | No |
ClinGen ExAC |
|
CA390046748 rs1229590428 |
1108 | D>E | No |
ClinGen gnomAD |
|
rs139214218 CA7230656 |
1111 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA390046723 rs748367584 |
1112 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7230653 rs748367584 |
1112 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7230654 rs150796721 |
1112 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7230652 rs781503502 |
1113 | H>R | No |
ClinGen ExAC gnomAD |
|
CA390046714 rs1594775034 |
1114 | Q>E | No |
ClinGen Ensembl |
|
rs1394493410 CA390046686 |
1117 | Y>C | No |
ClinGen gnomAD |
|
rs747335265 CA7230650 |
1119 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7230649 rs553593159 |
1119 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390046674 rs747335265 |
1119 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1395588185 CA390046670 |
1120 | V>I | No |
ClinGen gnomAD |
|
CA7230648 rs775202372 |
1123 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390046622 rs1157779083 |
1126 | K>N | No |
ClinGen gnomAD |
|
rs767091844 CA7230643 |
1128 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7230644 rs752216665 |
1128 | I>T | No |
ClinGen ExAC gnomAD |
|
CA7230645 rs755679221 |
1128 | I>V | No |
ClinGen ExAC gnomAD |
|
CA7230642 rs769684663 |
1129 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
RCV001812371 rs2082573854 |
1131 | Q>* | No |
ClinVar dbSNP |
|
rs1394283404 CA390046593 |
1131 | Q>R | No |
ClinGen TOPMed |
|
CA7230640 rs186859277 |
1132 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs773081060 CA7230638 |
1133 | D>G | No |
ClinGen ExAC gnomAD |
|
CA7230636 rs748167525 |
1135 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs375618460 CA7230637 |
1135 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
RCV001002421 CA7230635 rs776879148 |
1137 | L>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1320997133 CA390046548 |
1139 | L>M | No |
ClinGen gnomAD |
|
rs141173028 CA390046526 |
1142 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA390046528 rs1436929613 |
1142 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA7230632 rs199840127 |
1144 | E>G | No |
ClinGen ExAC gnomAD |
|
CA7230633 rs747247179 |
1144 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs571964071 CA7230631 |
1145 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs199709844 CA262703507 |
1146 | L>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
rs1390340680 CA390046503 |
1147 | D>Y | No |
ClinGen gnomAD |
|
rs77806 CA262703478 |
1151 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7230626 rs767038559 |
1151 | N>K | No |
ClinGen ExAC gnomAD |
|
rs752165358 CA7230627 |
1151 | N>S | No |
ClinGen ExAC gnomAD |
|
CA262703448 rs980602524 |
1152 | A>G | No |
ClinGen TOPMed gnomAD |
|
rs754591398 CA7230625 |
1152 | A>T | No |
ClinGen ExAC |
|
CA7230624 COSM698953 rs751235570 |
1154 | G>D | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA390046463 rs1435734860 |
1154 | G>S | No |
ClinGen TOPMed |
|
rs751235570 CA390046459 |
1154 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA262703431 rs1016291916 |
1155 | R>G | No |
ClinGen TOPMed |
|
rs79725829 CA7230623 |
1157 | W>G | No |
ClinGen ExAC |
|
CA7230622 rs762597840 |
1158 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA262703419 rs771810616 |
1159 | S>G | No |
ClinGen Ensembl |
|
CA390046425 rs1359006770 |
1159 | S>T | No |
ClinGen gnomAD |
|
rs765222922 CA7230620 |
1160 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs76283214 CA7230619 |
1160 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7230617 rs768901063 |
1161 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1300290638 CA390046418 |
1161 | S>R | No |
ClinGen TOPMed |
|
CA390046412 rs1437142594 |
1161 | S>R | No |
ClinGen gnomAD |
|
CA7230615 rs377560569 |
1163 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs377560569 CA390046399 |
1163 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1490726834 CA390046392 |
1165 | A>T | No |
ClinGen gnomAD |
|
CA7230612 rs779282753 |
1166 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs145875201 CA262703353 |
1168 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
rs1388745080 CA390046369 |
1168 | L>P | No |
ClinGen gnomAD |
|
CA7230611 rs749833541 |
1171 | Q>P | No |
ClinGen ExAC gnomAD |
|
CA7230610 rs749833541 |
1171 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs1231541608 CA390046342 |
1172 | E>G | No |
ClinGen TOPMed |
|
rs754503810 CA7230608 |
1175 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1291286548 CA390046318 |
1175 | K>R | No |
ClinGen TOPMed |
|
rs1490223841 CA390046303 |
1177 | A>G | No |
ClinGen gnomAD |
|
rs1275420408 CA390046297 |
1178 | K>R | No |
ClinGen gnomAD |
|
CA7230607 rs143493156 |
1180 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs3210340 CA262703326 |
1180 | A>V | No |
ClinGen Ensembl |
|
rs1007738752 CA262703320 |
1183 | I>V | No |
ClinGen TOPMed |
|
CA390046251 rs1227189633 |
1185 | S>I | No |
ClinGen TOPMed gnomAD |
|
CA390046253 rs1227189633 |
1185 | S>N | No |
ClinGen TOPMed gnomAD |
|
CA390046256 rs1194934142 |
1185 | S>R | No |
ClinGen TOPMed |
|
rs1469756813 CA390046220 |
1188 | E>K | No |
ClinGen gnomAD |
|
rs201441326 CA7230583 |
1190 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs756109744 CA7230582 |
1190 | T>S | No |
ClinGen ExAC |
|
rs767687371 CA7230580 |
1191 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752671489 CA262703083 |
1191 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759671854 CA7230579 |
1192 | A>P | No |
ClinGen ExAC gnomAD |
|
rs766601064 CA7230577 |
1194 | L>W | No |
ClinGen ExAC gnomAD |
|
rs367840098 CA7230575 |
1195 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1566757728 CA390046167 |
1196 | P>R | No |
ClinGen Ensembl |
|
rs1229710369 CA390046153 |
1198 | D>E | No |
ClinGen gnomAD |
|
rs774828453 CA7230572 |
1198 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390046122 rs1389836671 |
1203 | A>E | No |
ClinGen TOPMed gnomAD |
|
rs1452286295 CA390046126 |
1203 | A>T | No |
ClinGen gnomAD |
|
CA390046109 rs1323207561 |
1205 | A>D | No |
ClinGen gnomAD |
|
rs1452230204 CA390046107 |
1206 | G>R | No |
ClinGen gnomAD |
|
rs1363336216 CA390046100 |
1207 | I>V | No |
ClinGen gnomAD |
|
CA7230566 rs139262198 |
1208 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM433254 rs374240422 CA7230567 |
1208 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA7230563 rs752722915 |
1209 | K>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs754992620 CA7230561 |
1212 | D>G | No |
ClinGen ExAC gnomAD |
|
CA390046061 rs1265540580 |
1213 | F>I | No |
ClinGen gnomAD |
|
rs766548051 CA7230559 |
1215 | G>A | No |
ClinGen ExAC gnomAD |
|
CA390046041 rs1348896251 |
1216 | S>A | No |
ClinGen TOPMed |
|
CA390046040 rs1348896251 |
1216 | S>P | No |
ClinGen TOPMed |
|
CA7230558 rs146846892 |
1217 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs368552247 CA7230557 |
1219 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
CA7230556 rs368552247 |
1219 | N>T | No |
ClinGen ESP ExAC gnomAD |
|
rs1300227594 CA390046011 |
1220 | N>H | No |
ClinGen gnomAD |
|
CA7230555 rs201849832 |
1221 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA390046004 rs1381051370 |
1221 | R>W | No |
ClinGen gnomAD |
|
rs777255682 CA390046000 |
1222 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1732556 rs777255682 CA7230554 |
1222 | D>Y | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA262702957 rs1006582019 |
1228 | V>L | No |
ClinGen gnomAD |
|
rs1450292241 CA390045951 |
1229 | D>G | No |
ClinGen gnomAD |
|
CA7230551 rs774029248 |
1230 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1267889389 CA390045915 |
1235 | V>I | No |
ClinGen gnomAD |
|
CA390045903 rs1192844436 |
1237 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
COSM1707459 rs1184589084 CA390045890 |
1238 | G>E | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
CA390045881 rs1445784766 |
1240 | L>I | No |
ClinGen Ensembl |
|
CA390045875 rs1205472431 |
1241 | Y>H | No |
ClinGen gnomAD |
|
CA7230548 rs777400404 |
1243 | D>E | No |
ClinGen ExAC gnomAD |
|
rs976130875 CA262702932 |
1247 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA390045816 rs1373154036 |
1249 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1343483831 CA390045807 |
1250 | Q>R | No |
ClinGen gnomAD |
|
COSM1227456 rs1302660993 CA390045794 |
1252 | I>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA7230545 rs781116290 |
1253 | E>G | No |
ClinGen ExAC gnomAD |
|
rs868131072 CA262702917 |
1253 | E>K | No |
ClinGen Ensembl |
|
CA390045785 rs1347493519 |
1254 | D>N | No |
ClinGen TOPMed |
|
rs965294354 CA262702800 |
1259 | N>K | No |
ClinGen Ensembl |
|
CA390045724 rs1450102801 |
1260 | N>S | No |
ClinGen gnomAD |
|
CA7230508 rs776378723 |
1260 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7230505 rs775350990 |
1261 | E>G | No |
ClinGen ExAC gnomAD |
|
CA7230506 rs746933929 |
1261 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390045704 rs1405209052 |
1263 | A>G | No |
ClinGen gnomAD |
|
rs904850369 CA262702786 |
1263 | A>S | No |
ClinGen TOPMed |
|
CA262702783 rs912491095 |
1266 | A>T | No |
ClinGen Ensembl |
|
CA7230501 rs757483034 |
1267 | S>C | No |
ClinGen ExAC gnomAD |
|
CA262702754 rs765221153 |
1268 | V>I | No |
ClinGen Ensembl |
|
rs765221153 CA262702758 |
1268 | V>L | No |
ClinGen Ensembl |
|
rs201313127 CA7230498 |
1269 | L>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7230500 rs778280369 |
1269 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1267445474 CA390045652 |
1272 | D>A | No |
ClinGen TOPMed |
|
rs370662950 CA7230495 |
1274 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs370662950 CA7230496 |
1274 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1282268795 CA390045629 |
1276 | L>V | No |
ClinGen gnomAD |
|
CA390045619 rs1204568319 |
1277 | Q>H | No |
ClinGen gnomAD |
|
rs764693974 CA7230493 |
1278 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7230492 rs376325010 |
1279 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs369252262 CA7230489 |
1283 | C>F | No |
ClinGen ExAC gnomAD |
|
rs771997733 CA390045568 |
1284 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390045574 rs1343304057 |
1284 | Q>K | No |
ClinGen gnomAD |
|
rs775296073 CA7230488 |
1284 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7230486 rs745845637 |
1285 | E>A | No |
ClinGen ExAC gnomAD |
|
rs1271170656 CA390045546 |
1286 | L>F | No |
ClinGen gnomAD |
|
CA390045542 rs1197292878 |
1287 | T>A | No |
ClinGen gnomAD |
|
CA390045537 rs1490250188 |
1287 | T>I | No |
ClinGen gnomAD |
|
CA390045541 rs1197292878 |
1287 | T>S | No |
ClinGen gnomAD |
|
CA7230469 rs774216236 |
1291 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770916821 CA7230467 |
1292 | D>N | No |
ClinGen ExAC gnomAD |
|
CA7230466 rs763084936 |
1293 | K>E | No |
ClinGen ExAC gnomAD |
|
rs145433957 CA390045494 |
1293 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs770115757 CA7230464 |
1294 | L>M | No |
ClinGen ExAC gnomAD |
|
CA7230461 rs368833188 |
1297 | S>F | No |
ClinGen ESP ExAC TOPMed |
|
rs1350562659 CA614440949 |
1297 | S>I | No |
ClinGen gnomAD |
|
rs368833188 CA390045475 |
1297 | S>Y | No |
ClinGen ESP ExAC TOPMed |
|
rs747412251 CA7230460 |
1300 | V>A | No |
ClinGen ExAC gnomAD |
|
CA262702041 rs948225516 |
1301 | S>C | No |
ClinGen TOPMed |
|
CA7230459 rs780357227 |
1302 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA262702032 rs753297883 |
1303 | D>H | No |
ClinGen ExAC gnomAD |
|
rs753297883 CA7230457 |
1303 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA7230454 rs752416927 |
1306 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA262702004 rs1038287944 CA390045411 |
1307 | N>K | No |
ClinGen TOPMed gnomAD |
|
rs1174904742 CA390045406 |
1308 | L>P | No |
ClinGen gnomAD |
|
rs767333869 CA7230453 |
1309 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7230452 rs759195991 |
1310 | N>K | No |
ClinGen ExAC gnomAD |
|
CA390045394 rs1594772211 |
1310 | N>S | No |
ClinGen Ensembl |
|
rs140446828 CA7230451 |
1312 | W>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1479756011 CA390045368 |
1314 | K>E | No |
ClinGen gnomAD |
|
rs766175855 CA7230449 |
1315 | H>Q | No |
ClinGen ExAC gnomAD |
|
CA390045359 rs1594772189 |
1315 | H>Y | No |
ClinGen Ensembl |
|
rs763029819 CA7230448 |
1317 | A>P | No |
ClinGen ExAC gnomAD |
|
CA7230447 COSM1370618 rs768710888 |
1317 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs1594772168 CA390045328 |
1320 | A>T | No |
ClinGen Ensembl |
|
rs762112620 CA7230445 |
1320 | A>V | No |
ClinGen ExAC gnomAD |
|
CA390045312 rs1308471547 |
1322 | L>R | No |
ClinGen gnomAD |
|
CA262701953 rs541889464 |
1322 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1221739657 CA390045310 |
1323 | A>P | No |
ClinGen gnomAD |
|
CA390045296 rs146778255 |
1325 | H>P | No |
ClinGen ESP TOPMed gnomAD |
|
rs146778255 CA262701952 |
1325 | H>R | No |
ClinGen ESP TOPMed gnomAD |
|
CA390045286 rs1279342786 |
1326 | E>D | No |
ClinGen gnomAD |
|
rs1453923191 CA390045284 |
1327 | G>R | No |
ClinGen gnomAD |
|
rs1408744606 CA390045279 |
1327 | G>V | No |
ClinGen gnomAD |
|
rs1469708148 CA390045270 |
1328 | W>C | No |
ClinGen gnomAD |
|
rs1594772110 CA390045276 |
1328 | W>G | No |
ClinGen Ensembl |
|
rs1299379767 CA390045260 |
1330 | E>G | No |
ClinGen TOPMed |
|
rs1339398663 CA390045255 |
1331 | N>H | No |
ClinGen TOPMed |
|
CA7230440 rs746414660 |
1333 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746414660 CA7230439 |
1333 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
RCV000756712 rs113139501 CA7230438 |
1334 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs758666794 CA262700925 |
1335 | E>K | No |
ClinGen Ensembl |
|
rs865845274 CA262700922 |
1336 | G>R | No |
ClinGen Ensembl |
|
rs1224287786 CA390045204 |
1337 | K>R | No |
ClinGen gnomAD |
|
CA390045194 rs1356759800 |
1338 | Q>L | No |
ClinGen gnomAD |
|
CA7230417 rs746365542 |
1339 | L>R | No |
ClinGen ExAC gnomAD |
|
rs1290056339 CA390045190 |
1339 | L>V | No |
ClinGen gnomAD |
|
rs908533278 CA262700906 |
1347 | T>I | No |
ClinGen TOPMed gnomAD |
|
CA7230413 rs369444753 |
1349 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1163171250 CA390045105 |
1352 | Q>K | No |
ClinGen gnomAD |
|
rs1594770057 RCV001000999 |
1353 | K>missing | No |
ClinVar dbSNP |
|
rs146570433 CA262700889 |
1358 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs905908428 CA262700891 |
1358 | H>R | No |
ClinGen Ensembl |
|
CA390045046 rs1405421214 |
1361 | W>S | No |
ClinGen TOPMed |
|
CA7230408 rs765225112 |
1362 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM273299 CA7230406 rs776511812 |
1363 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1196004546 CA390045020 |
1365 | Q>* | No |
ClinGen gnomAD |
|
rs753842456 CA262700865 |
1366 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753842456 CA7230405 |
1366 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390045009 rs1253412586 |
1367 | T>A | No |
ClinGen gnomAD |
|
CA7230402 rs775843992 |
1371 | K>R | No |
ClinGen ExAC gnomAD |
|
rs142640389 CA7230400 |
1373 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA390044961 rs1221558226 |
1374 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs200559187 CA7230398 |
1376 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1052947217 CA262700839 |
1377 | A>T | No |
ClinGen Ensembl |
|
CA390044923 rs775995989 |
1380 | S>I | No |
ClinGen ExAC gnomAD |
|
CA7230396 rs775995989 |
1380 | S>N | No |
ClinGen ExAC gnomAD |
|
CA390044910 rs371649655 |
1382 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7230393 rs569713799 |
1382 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs746513424 CA7230394 |
1382 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs367610564 CA7230391 |
1383 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1194374612 CA390044906 |
1383 | L>P | No |
ClinGen gnomAD |
|
rs778901641 CA7230390 |
1384 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7230389 rs757113392 |
1384 | R>H | No |
ClinGen ExAC gnomAD |
|
rs894413251 CA262700814 |
1387 | T>S | No |
ClinGen TOPMed |
|
rs1405959110 CA390044876 |
1388 | H>R | No |
ClinGen gnomAD |
|
CA262700796 rs1055690350 |
1390 | D>H | No |
ClinGen TOPMed |
|
rs886050619 CA390044847 |
1392 | N>K | No |
ClinGen TOPMed |
|
CA7230387 rs764068701 |
1392 | N>S | No |
ClinGen ExAC gnomAD |
|
rs144621253 CA7230386 CA390044831 |
1394 | W>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1337694456 CA390044820 |
1396 | S>N | No |
ClinGen gnomAD |
|
rs759799491 CA7230384 |
1397 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759799491 CA7230383 |
1397 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs17180350 CA7230381 |
1403 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs545984220 CA7230382 |
1403 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA262700760 rs950346432 |
1404 | S>L | No |
ClinGen Ensembl |
|
CA7230378 rs770206796 |
1406 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs147131185 CA7230377 |
1407 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA390044749 rs1159711774 |
1407 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs1159711774 CA390044751 |
1407 | P>T | No |
ClinGen TOPMed gnomAD |
|
rs17245552 CA7230375 |
1408 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA390044745 rs1594769822 |
1408 | G>D | No |
ClinGen Ensembl |
|
CA7230373 rs778846532 |
1410 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1460335603 CA390044701 |
1415 | N>H | No |
ClinGen TOPMed gnomAD |
|
CA262700712 rs921527857 |
1415 | N>S | No |
ClinGen TOPMed gnomAD |
|
rs1460335603 CA390044702 |
1415 | N>Y | No |
ClinGen TOPMed gnomAD |
|
CA7230370 rs777704033 |
1416 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs975597244 CA262700706 |
1416 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs756040224 CA7230369 |
1417 | M>K | No |
ClinGen ExAC gnomAD |
|
CA262700694 rs1021660417 |
1418 | L>F | No |
ClinGen Ensembl |
|
rs1271230465 CA390044673 |
1419 | A>V | No |
ClinGen gnomAD |
|
rs150323295 CA7230351 |
1423 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs781231618 RCV001812506 CA7230350 |
1425 | E>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs780282298 CA7230347 |
1426 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754988940 CA7230349 |
1426 | D>V | No |
ClinGen ExAC gnomAD |
|
rs750776585 CA7230345 |
1428 | V>G | No |
ClinGen ExAC gnomAD |
|
CA390044607 rs567454803 |
1428 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7230346 rs567454803 |
1428 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA390044594 rs1240452276 |
1430 | V>M | No |
ClinGen gnomAD |
|
CA7230343 rs757836263 COSM957062 |
1431 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA262699348 COSM698955 rs943876155 |
1431 | R>Q | lung Variant assessed as Somatic; 0.0 impact. skin [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
rs759052809 CA7230340 |
1433 | E>D | No |
ClinGen ExAC gnomAD |
|
rs764712285 CA7230341 |
1433 | E>G | No |
ClinGen ExAC gnomAD |
|
CA7230339 rs773768310 |
1434 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs1277028532 CA390044565 |
1435 | L>V | No |
ClinGen TOPMed gnomAD |
|
CA390044557 rs1300958852 |
1436 | G>E | No |
ClinGen gnomAD |
|
rs1346828165 CA390044561 |
1436 | G>R | No |
ClinGen gnomAD |
|
CA262699277 rs953675033 |
1440 | A>S | No |
ClinGen TOPMed |
|
CA7230336 rs773051278 |
1441 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs769530469 CA7230335 |
1442 | V>M | No |
ClinGen ExAC gnomAD |
|
rs747947771 CA7230334 |
1445 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390044457 rs1431504811 |
1451 | D>E | No |
ClinGen gnomAD |
|
rs997243304 CA262699245 |
1452 | A>T | No |
ClinGen TOPMed |
|
rs768609633 CA7230331 |
1452 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1487199875 CA390044437 |
1455 | S>G | No |
ClinGen TOPMed |
|
rs371440362 CA262699239 |
1457 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
rs371440362 CA262699224 |
1457 | E>Q | No |
ClinGen ESP TOPMed gnomAD |
|
CA390044410 rs1233259263 |
1458 | K>N | No |
ClinGen gnomAD |
|
COSM1235254 rs148127231 CA7230328 |
1459 | R>Q | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA gnomAD |
rs780155773 CA7230329 |
1459 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs757639847 CA7230325 |
1462 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779323039 CA390044392 |
1462 | D>N | No |
ClinGen ExAC gnomAD |
|
rs779323039 CA7230326 |
1462 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs754260970 CA7230324 |
1465 | E>D | No |
ClinGen ExAC gnomAD |
|
rs1160994776 CA390044371 |
1465 | E>G | No |
ClinGen TOPMed |
|
rs1280762398 CA390044375 |
1465 | E>K | No |
ClinGen gnomAD |
|
CA390044364 rs1358996802 |
1466 | P>R | No |
ClinGen TOPMed |
|
rs756714150 CA7230322 |
1470 | R>G | No |
ClinGen ExAC gnomAD |
|
rs570908790 CA7230321 |
1471 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA390044278 rs1408422452 |
1479 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA7230320 rs765869279 |
1480 | K>R | No |
ClinGen ExAC gnomAD |
|
rs1409357450 CA390044255 |
1483 | I>F | No |
ClinGen Ensembl |
|
rs1377781579 CA390044245 |
1484 | S>N | No |
ClinGen TOPMed |
|
rs143829550 CA7230317 |
1484 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
CA7230314 rs140697785 |
1485 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7230313 rs140697785 |
1485 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
RCV001001225 CA7230315 rs373557486 |
1485 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1184164788 CA390044197 |
1491 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA7230294 rs763942503 |
1492 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1295859631 CA390044177 |
1493 | W>G | No |
ClinGen gnomAD |
|
rs1295859631 CA390044179 |
1493 | W>R | No |
ClinGen gnomAD |
|
rs1594766743 CA390044165 |
1494 | V>G | No |
ClinGen Ensembl |
|
rs772053165 CA7230291 |
1495 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1594766703 CA390044144 |
1497 | R>S | No |
ClinGen Ensembl |
|
rs1303977341 CA390044121 |
1501 | A>V | No |
ClinGen gnomAD |
|
rs141214410 CA262698807 |
1504 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
rs1421043694 CA390044098 |
1505 | D>G | No |
ClinGen gnomAD |
|
COSM3401410 rs1429001823 CA390044102 |
1505 | D>N | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
rs1190796752 CA390044090 |
1506 | Y>C | No |
ClinGen TOPMed gnomAD |
|
CA7230285 rs375743316 |
1509 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA262698759 rs979945351 |
1510 | L>P | No |
ClinGen Ensembl |
|
rs1251163772 CA390044063 |
1511 | Q>K | No |
ClinGen TOPMed |
|
CA7230284 rs748548058 |
1512 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1468130075 CA390044049 |
1513 | V>L | No |
ClinGen TOPMed |
|
CA7230282 rs755530704 |
1515 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1297820684 CA390044031 |
1516 | F>L | No |
ClinGen gnomAD |
|
rs756897454 CA7230279 |
1517 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7230280 rs146588994 |
1517 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs146588994 CA7230281 |
1517 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs200187680 CA7230278 |
1519 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA262698720 rs890997122 |
1520 | N>T | No |
ClinGen TOPMed gnomAD |
|
CA390043970 rs1240372784 |
1522 | T>I | No |
ClinGen gnomAD |
|
CA7230248 rs765352994 |
1524 | Q>K | No |
ClinGen ExAC gnomAD |
|
rs1457666793 CA390043955 |
1525 | N>D | No |
ClinGen gnomAD |
|
CA7230247 rs373724473 |
1525 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1457666793 CA390043954 |
1525 | N>Y | No |
ClinGen gnomAD |
|
rs1411392408 CA390043930 |
1528 | L>P | No |
ClinGen Ensembl |
|
rs747387364 CA7230244 |
1529 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390043928 rs747387364 |
1529 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775909340 CA7230243 |
1530 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs149999354 CA390043913 |
1531 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs149999354 CA7230242 |
1531 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs149999354 CA390043912 |
1531 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7230240 rs200639803 |
1532 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs868739957 CA262695926 |
1533 | R>Q | No |
ClinGen gnomAD |
|
CA7230238 rs140301241 |
1533 | R>W | Variant assessed as Somatic; 4.67e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA390043899 rs1400842547 |
1534 | V>A | No |
ClinGen gnomAD |
|
CA7230237 rs780839859 |
1536 | D>G | No |
ClinGen ExAC gnomAD |
|
CA7230234 rs766366799 |
1541 | G>W | No |
ClinGen ExAC gnomAD |
|
rs1460983869 CA390043831 |
1545 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA262695859 rs753726387 |
1547 | A>T | No |
ClinGen gnomAD |
|
rs758456079 CA7230233 |
1547 | A>V | No |
ClinGen ExAC gnomAD |
|
rs377634587 COSM40652 CA7230231 |
1548 | A>V | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA390043801 rs1336461504 |
1549 | E>D | No |
ClinGen TOPMed |
|
CA390043800 rs776854894 |
1550 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776854894 CA7230229 |
1550 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1266754 rs760176952 CA7230227 |
1551 | D>N | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1239239273 CA390043787 |
1552 | C>R | No |
ClinGen gnomAD |
|
rs1359866151 CA390043762 |
1555 | L>F | No |
ClinGen gnomAD |
|
rs1307153504 CA390043761 |
1555 | L>P | No |
ClinGen TOPMed |
|
CA7230226 RCV001507835 rs140648376 |
1557 | E>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7230225 rs373885193 |
1558 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs746416668 CA7230224 |
1558 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs373885193 CA390043743 |
1558 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA390043731 rs1465230559 |
1560 | G>E | No |
ClinGen TOPMed |
|
rs769407207 CA7230222 |
1561 | H>P | No |
ClinGen ExAC gnomAD |
|
rs878914236 CA262695772 |
1561 | H>Y | No |
ClinGen gnomAD |
|
CA7230221 rs147213872 |
1563 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA390043707 rs1472065566 |
1564 | S>N | No |
ClinGen gnomAD |
|
CA7230220 rs780852707 |
1565 | S>T | No |
ClinGen ExAC gnomAD |
|
rs1427578525 CA390043683 |
1567 | D>E | No |
ClinGen TOPMed |
|
rs138126360 RCV001000295 CA7230218 RCV002068749 |
1567 | D>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7230219 rs138126360 |
1567 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7230216 rs139446085 |
1570 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7230217 rs780033343 |
1570 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA262695735 rs927272478 |
1571 | E>V | No |
ClinGen TOPMed |
|
rs750432544 CA7230215 |
1573 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1437656100 CA390043649 |
1574 | A>T | No |
ClinGen TOPMed |
|
rs368865153 CA7230212 |
1575 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA390043638 rs1594762236 |
1576 | R>G | No |
ClinGen Ensembl |
|
CA390043625 rs1337741915 |
1578 | Q>E | No |
ClinGen gnomAD |
|
rs927773729 CA262695697 |
1578 | Q>R | No |
ClinGen Ensembl |
|
RCV001508365 rs760938057 |
1579 | R>* | No |
ClinVar dbSNP |
|
CA7230209 rs376789095 |
1579 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA390043614 rs1350852044 |
1580 | L>V | No |
ClinGen TOPMed gnomAD |
|
rs372204766 CA7230206 |
1583 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7230205 rs372204766 |
1583 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1329787884 CA390043587 |
1584 | N>S | No |
ClinGen TOPMed |
|
rs776051162 CA7230203 |
1585 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA390043576 rs1421537038 |
1586 | A>T | No |
ClinGen TOPMed gnomAD |
|
RCV001813125 rs746722532 |
1589 | Y>* | No |
ClinVar dbSNP |
|
CA7230199 rs549797168 |
1591 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7230198 rs536189861 |
1592 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA7230197 rs778870352 |
1593 | A>E | No |
ClinGen ExAC gnomAD |
|
rs778870352 CA390043523 |
1593 | A>V | No |
ClinGen ExAC gnomAD |
|
rs138279396 CA390043517 CA390043516 |
1594 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7230195 rs753933934 |
1594 | D>N | No |
ClinGen ExAC gnomAD |
|
CA7230193 rs756327499 |
1595 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1330864772 CA390043459 |
1602 | E>D | No |
ClinGen gnomAD |
|
CA390043461 rs1434837735 |
1602 | E>G | No |
ClinGen gnomAD |
|
COSM194074 CA390043466 rs1180402020 |
1602 | E>K | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
rs4899145 CA7230189 |
1606 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs527302642 CA7230191 |
1606 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs527302642 CA7230190 |
1606 | Y>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs763407007 CA7230187 |
1607 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1018561609 CA262695642 |
1608 | I>L | No |
ClinGen TOPMed |
|
rs1169975625 CA390043422 |
1608 | I>T | No |
ClinGen gnomAD |
|
rs1427595749 CA390043414 |
1610 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA7230183 rs775215288 |
1614 | K>E | No |
ClinGen ExAC gnomAD |
|
CA390043336 rs537141390 |
1619 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7230163 rs537141390 |
1619 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA390043335 rs1322921068 |
1619 | A>V | No |
ClinGen gnomAD |
|
rs229592 CA390043326 |
1620 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA390043331 rs1594761407 |
1620 | I>V | No |
ClinGen Ensembl |
|
CA390043325 rs1229350121 |
1621 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs1361492153 CA390043300 |
1624 | K>M | No |
ClinGen gnomAD |
|
CA7230160 rs749125417 |
1625 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390043291 rs1392262841 |
1626 | H>N | No |
ClinGen Ensembl |
|
CA390043276 COSM1370606 rs755882611 |
1628 | R>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA7230159 rs755882611 |
1628 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390043277 rs1457032754 |
1628 | R>W | No |
ClinGen gnomAD |
|
RCV001810679 rs372503030 CA7230158 |
1631 | R>C | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs201082918 CA7230157 |
1631 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs201082918 CA390043256 |
1631 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs781286844 CA390043251 |
1632 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1411013976 CA390043252 |
1632 | A>S | No |
ClinGen gnomAD |
|
rs1411013976 CA390043254 |
1632 | A>T | No |
ClinGen gnomAD |
|
rs781286844 CA7230156 |
1632 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390043237 rs1594761292 |
1633 | V>G | No |
ClinGen Ensembl |
|
rs1264943949 CA390043244 |
1633 | V>M | No |
ClinGen TOPMed gnomAD |
|
CA7230154 rs747251107 |
1634 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs901736099 CA262691929 |
1635 | D>G | No |
ClinGen TOPMed |
|
rs780335342 CA390043213 |
1635 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs780335342 CA7230153 |
1635 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1299401986 CA390043190 |
1636 | Y>C | No |
ClinGen TOPMed |
|
CA390043197 rs1323954872 |
1636 | Y>N | No |
ClinGen TOPMed gnomAD |
|
CA390043173 rs1227874792 |
1637 | G>S | No |
ClinGen gnomAD |
|
rs368063704 CA7230151 |
1638 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs765799075 CA7230150 |
1639 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1359689800 CA390043127 |
1641 | K>E | No |
ClinGen gnomAD |
|
CA390043122 rs1293840327 |
1641 | K>R | No |
ClinGen gnomAD |
|
rs1459384589 CA390043111 |
1642 | Q>E | No |
ClinGen gnomAD |
|
rs867559352 CA262691904 |
1644 | A>V | No |
ClinGen Ensembl |
|
rs1004837830 CA262691884 |
1645 | S>N | No |
ClinGen TOPMed |
|
CA7230148 rs752231474 |
1646 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA7230149 rs111849078 |
1646 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1425099247 CA390043042 |
1647 | A>S | No |
ClinGen gnomAD |
|
CA7230147 rs766992918 |
1649 | G>D | No |
ClinGen ExAC gnomAD |
|
rs766992918 CA390043004 |
1649 | G>V | No |
ClinGen ExAC gnomAD |
|
rs759219902 CA7230146 |
1652 | S>C | No |
ClinGen ExAC gnomAD |
|
CA390042955 rs1261470871 |
1653 | A>V | No |
ClinGen gnomAD |
|
CA390042917 rs1192200629 |
1656 | P>S | No |
ClinGen gnomAD |
|
rs567367723 CA262691837 |
1658 | G>E | No |
ClinGen TOPMed gnomAD |
|
CA262690545 rs1049329878 |
1661 | I>V | No |
ClinGen TOPMed |
|
CA7230109 rs749681760 |
1664 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1023936846 CA262690510 |
1664 | L>P | No |
ClinGen Ensembl |
|
rs778089194 CA7230108 |
1665 | Q>K | No |
ClinGen ExAC gnomAD |
|
CA390042564 rs1256890835 |
1666 | G>E | No |
ClinGen gnomAD |
|
RCV001091050 rs2082308925 |
1668 | V>missing | No |
ClinVar dbSNP |
|
CA7230107 rs756672281 |
1668 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1477804445 CA390042539 |
1668 | V>M | No |
ClinGen TOPMed |
|
CA7230106 rs751016084 |
1669 | D>E | No |
ClinGen ExAC gnomAD |
|
CA7230105 rs201504825 |
1671 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs762226943 CA7230104 |
1672 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756999416 CA7230101 |
1673 | A>P | No |
ClinGen ExAC gnomAD |
|
CA7230102 rs756999416 |
1673 | A>S | No |
ClinGen ExAC gnomAD |
|
rs756999416 CA390042457 |
1673 | A>T | No |
ClinGen ExAC gnomAD |
|
rs773895447 CA7230100 |
1674 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7230097 rs775419321 |
1675 | L>V | No |
ClinGen ExAC gnomAD |
|
CA390042380 rs188341589 |
1678 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7230095 rs188341589 |
1678 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7230094 rs774655120 COSM2248549 |
1679 | A>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs868011757 CA262690341 |
1680 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs111611921 CA7230090 |
1682 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs111611921 CA7230091 |
1682 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748760619 CA7230089 COSM174055 |
1682 | R>H | ovary large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs748760619 CA390042313 |
1682 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781558180 CA7230088 |
1683 | K>R | No |
ClinGen ExAC gnomAD |
|
RCV000733351 CA7230087 rs141226650 |
1684 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs148074782 CA7230085 |
1684 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7230086 rs148074782 |
1684 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1489168804 CA390042287 |
1685 | K>E | No |
ClinGen gnomAD |
|
CA390042256 rs1204496414 |
1687 | E>G | No |
ClinGen gnomAD |
|
CA390042264 rs1200865169 |
1687 | E>K | No |
ClinGen TOPMed |
|
rs375616137 CA7230082 |
1688 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7230079 rs767572838 |
1689 | M>I | No |
ClinGen ExAC gnomAD |
|
rs752610763 CA7230080 |
1689 | M>V | No |
ClinGen ExAC gnomAD |
|
CA7230077 rs774600016 |
1694 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1362857968 CA390042134 |
1695 | L>F | No |
ClinGen gnomAD |
|
RCV001001746 CA7230074 rs199551302 |
1697 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs763298902 CA7230075 |
1697 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390042074 rs1165481787 |
1699 | T>N | No |
ClinGen gnomAD |
|
rs748477590 CA390042065 |
1700 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM3719661 rs748477590 CA7230072 |
1700 | D>N | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA7230069 rs369208136 |
1701 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7230070 rs369208136 |
1701 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1260772700 CA390042019 |
1703 | E>* | No |
ClinGen gnomAD |
|
CA390042012 rs1192288927 |
1703 | E>A | No |
ClinGen gnomAD |
|
rs778444104 CA7230068 |
1713 | A>V | No |
ClinGen ExAC gnomAD |
|
rs376122148 CA262690122 |
1714 | S>T | No |
ClinGen ESP |
|
CA262690117 rs991520284 |
1715 | S>C | No |
ClinGen TOPMed gnomAD |
|
CA7230067 rs146532725 |
1716 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs777293570 CA7230065 |
1717 | E>K | No |
ClinGen ExAC gnomAD |
|
COSM3744412 CA7230063 rs752454815 CA7230064 |
1721 | D>E | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA390041732 rs1487638521 |
1721 | D>Y | No |
ClinGen TOPMed |
|
CA7230060 rs145753633 |
1725 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1439284112 CA390041633 |
1726 | T>I | No |
ClinGen gnomAD |
|
rs762481264 CA7230032 |
1727 | L>F | No |
ClinGen ExAC gnomAD |
|
CA262689596 RCV001812432 rs753928257 |
1729 | R>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7230030 rs769460523 |
1729 | R>L | No |
ClinGen ExAC gnomAD |
|
rs769460523 CA262689561 |
1729 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA7230031 rs753928257 |
1729 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1278963787 CA390041502 |
1730 | D>E | No |
ClinGen gnomAD |
|
rs747858034 CA390041517 |
1730 | D>N | No |
ClinGen ExAC gnomAD |
|
CA7230029 rs747858034 |
1730 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA390041460 rs1361177309 |
1733 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs781000542 CA7230028 |
1733 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390041418 rs1311263389 |
1736 | A>T | No |
ClinGen gnomAD |
|
CA7230026 rs561976171 |
1737 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7230027 rs149727354 |
1737 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1216559614 CA390041409 |
1738 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs541815393 CA262689487 |
1740 | G>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
rs1422841899 CA390041388 |
1741 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
COSM1370604 rs745940095 CA7230023 |
1741 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA262689418 rs929853070 |
1745 | E>Q | No |
ClinGen TOPMed |
|
rs764312726 CA7230019 |
1746 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs200080131 CA7230020 |
1746 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA7230018 rs756419736 |
1749 | N>D | No |
ClinGen ExAC gnomAD |
|
CA7230017 rs753089242 |
1749 | N>S | No |
ClinGen ExAC gnomAD |
|
CA7230015 rs760005477 |
1751 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA262689368 rs772761835 |
1752 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772761835 CA262689358 |
1752 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764588479 CA7230013 |
1754 | I>V | No |
ClinGen ExAC gnomAD |
|
rs374977591 CA262689334 |
1755 | E>K | No |
ClinGen ESP |
|
RCV001813118 rs776376302 CA262689316 |
1756 | R>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs776376302 CA7230011 |
1756 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7230010 rs768458105 |
1758 | I>F | No |
ClinGen ExAC gnomAD |
|
CA390041287 rs1288432051 |
1758 | I>T | No |
ClinGen TOPMed |
|
rs775200185 CA7230008 |
1759 | D>N | No |
ClinGen ExAC gnomAD |
|
CA7230006 rs745859916 |
1760 | A>T | No |
ClinGen ExAC gnomAD |
|
CA7230005 rs778913256 |
1760 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1264873239 CA390041272 |
1761 | G>S | No |
ClinGen gnomAD |
|
rs200617821 CA7230003 RCV001811009 |
1763 | S>G | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1222896246 CA390041251 |
1764 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs1318954030 CA390041218 |
1769 | A>T | No |
ClinGen gnomAD |
|
rs375893423 CA7229997 |
1770 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
rs953620091 CA262689201 |
1771 | W>R | No |
ClinGen TOPMed |
|
rs1360974439 CA390041195 |
1772 | K>T | No |
ClinGen gnomAD |
|
CA390041182 rs1389090249 |
1774 | G>R | No |
ClinGen TOPMed |
|
rs761370429 CA7229995 |
1776 | N>Y | No |
ClinGen ExAC gnomAD |
|
rs763816993 CA7229993 |
1777 | E>K | No |
ClinGen ExAC gnomAD |
|
CA390041151 rs1490526768 |
1778 | M>I | No |
ClinGen gnomAD |
|
CA390041104 rs1321981607 |
1785 | L>F | No |
ClinGen TOPMed |
|
rs1011120419 CA262689128 |
1786 | I>T | No |
ClinGen TOPMed |
|
rs1594758947 CA390041086 |
1788 | T>A | No |
ClinGen Ensembl |
|
rs1167836684 CA390041081 COSM957057 |
1788 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA7229989 rs745688508 |
1789 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA262689089 rs139477432 |
1789 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
rs1192295823 CA390041071 |
1790 | M>I | No |
ClinGen gnomAD |
|
rs1030785965 CA262689086 |
1790 | M>V | No |
ClinGen TOPMed |
|
CA7229988 rs768086142 |
1792 | L>Q | No |
ClinGen ExAC gnomAD |
|
CA390041018 rs1251681287 |
1794 | A>G | No |
ClinGen gnomAD |
|
rs749332448 CA7229986 |
1795 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1356951148 CA390041004 |
1797 | Y>H | No |
ClinGen TOPMed |
|
rs769986867 CA7229984 |
1800 | H>P | No |
ClinGen ExAC gnomAD |
|
rs769986867 CA390040982 |
1800 | H>R | No |
ClinGen ExAC gnomAD |
|
rs777877007 CA7229985 |
1800 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA7229982 rs781493805 |
1801 | R>C | No |
ClinGen ExAC gnomAD |
|
CA7229983 rs781493805 |
1801 | R>G | No |
ClinGen ExAC gnomAD |
|
rs755253000 CA7229981 |
1801 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390040971 rs1594758877 |
1802 | Y>C | No |
ClinGen Ensembl |
|
rs142051792 CA7229978 |
1805 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA262689005 rs1046495906 |
1805 | T>S | No |
ClinGen TOPMed |
|
rs753387708 CA7229977 |
1806 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs143950158 CA7229975 |
1808 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1372870402 CA390040911 |
1812 | L>F | No |
ClinGen gnomAD |
|
CA7229972 rs142187216 |
1813 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA390040895 rs1458297386 |
1814 | D>G | No |
ClinGen gnomAD |
|
rs1193527563 CA390040898 |
1814 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA7229969 rs751881161 |
1815 | E>K | No |
ClinGen ExAC gnomAD |
|
CA390040884 rs1480466529 |
1816 | K>E | No |
ClinGen gnomAD |
|
rs773272203 CA7229968 |
1817 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs548493652 CA7229967 |
1818 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7229966 rs748286261 |
1818 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7229964 rs200386310 |
1819 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1304147798 CA390040850 |
1821 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA262688893 rs763716590 |
1822 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs138157205 CA390040834 |
1824 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs138157205 CA7229958 |
1824 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA390040827 rs1173587715 |
1825 | G>E | No |
ClinGen gnomAD |
|
rs370441240 CA7229955 |
1828 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs370441240 CA7229956 |
1828 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs766226678 CA7229953 RCV000756717 |
1829 | S>N | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs773088290 CA7229952 |
1830 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773088290 CA7229951 |
1830 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773088290 CA390040797 |
1830 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs532526634 CA7229948 |
1832 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1352830843 CA390040782 |
1833 | S>P | No |
ClinGen gnomAD |
|
CA262688783 rs1025613350 |
1834 | F>L | No |
ClinGen Ensembl |
|
rs1340521360 CA390040759 |
1836 | R>P | No |
ClinGen gnomAD |
|
CA390040760 rs1340521360 |
1836 | R>Q | No |
ClinGen gnomAD |
|
rs1237768541 CA390040761 |
1836 | R>W | No |
ClinGen gnomAD |
|
rs1327485592 CA390040757 |
1837 | V>M | No |
ClinGen gnomAD |
|
CA7229946 rs747322463 |
1838 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775861576 CA7229945 |
1840 | A>D | No |
ClinGen ExAC gnomAD |
|
CA390040727 rs772509663 CA7229944 |
1841 | F>L | No |
ClinGen ExAC gnomAD |
|
CA390040732 rs1420676524 |
1841 | F>L | No |
ClinGen gnomAD |
|
rs1157307521 CA390040726 |
1842 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs1157307521 CA390040725 |
1842 | E>Q | No |
ClinGen TOPMed gnomAD |
|
rs553755523 CA7229943 |
1843 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs534004149 COSM76583 CA7229941 |
1843 | R>Q | ovary Variant assessed as Somatic; 5.233e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
CA7229942 rs553755523 |
1843 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA262688718 rs895736691 |
1844 | E>G | No |
ClinGen gnomAD |
|
rs1474309123 CA390040708 |
1845 | L>F | No |
ClinGen gnomAD |
|
rs1394325411 CA390040707 |
1845 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA7229939 rs780809373 |
1846 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1384561485 COSM1515968 CA390040685 |
1849 | G>C | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
rs751142647 CA7229937 |
1850 | V>G | No |
ClinGen ExAC gnomAD |
|
CA7229936 rs377094747 |
1851 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs369630504 CA7229915 |
1858 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA390040600 rs1594757359 |
1860 | T>P | No |
ClinGen Ensembl |
|
rs757007250 CA7229914 |
1861 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390040593 rs757007250 |
1861 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7229913 rs375479678 |
1861 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs763962262 CA7229912 |
1866 | Y>F | No |
ClinGen ExAC gnomAD |
|
CA390040564 rs1238188714 |
1866 | Y>H | No |
ClinGen gnomAD |
|
CA7229911 rs760795766 |
1868 | G>A | No |
ClinGen ExAC gnomAD |
|
rs1271832569 CA390040530 |
1871 | A>T | No |
ClinGen gnomAD |
|
rs775750950 CA7229910 |
1872 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1306312978 CA390040518 |
1873 | A>T | No |
ClinGen gnomAD |
|
CA7229908 rs759894414 |
1879 | Q>K | No |
ClinGen ExAC gnomAD |
|
rs185125059 CA7229907 |
1879 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA7229906 rs771256092 |
1880 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390040459 rs1328396050 CA390040458 |
1881 | V>L | No |
ClinGen gnomAD |
|
rs373473270 CA390040441 |
1884 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
RCV001297481 rs373473270 CA7229904 |
1884 | A>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7229901 rs779601232 |
1887 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390040403 rs1209365743 |
1890 | D>A | No |
ClinGen gnomAD |
|
CA7229897 rs757030587 RCV001002645 |
1890 | D>N | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7229896 rs753608080 |
1892 | C>R | No |
ClinGen ExAC gnomAD |
|
CA390040377 rs1371219955 |
1894 | G>E | No |
ClinGen gnomAD |
|
CA7229894 rs116677071 |
1894 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs759689339 CA7229891 COSM194073 |
1895 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs1357134262 CA390040372 |
1895 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs1357134262 CA390040370 |
1895 | R>L | No |
ClinGen TOPMed gnomAD |
|
CA7229890 rs147607076 |
1896 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1310916716 CA390040368 |
1896 | R>W | No |
ClinGen gnomAD |
|
CA7229889 rs147013623 |
1897 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA262686908 rs148911293 |
1897 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
CA390040359 rs1398484902 |
1898 | Q>K | No |
ClinGen gnomAD |
|
CA390040357 rs1566744840 |
1898 | Q>R | No |
ClinGen Ensembl |
|
rs763349032 CA7229888 |
1899 | L>I | No |
ClinGen ExAC gnomAD |
|
rs773500781 CA7229887 |
1900 | V>M | No |
ClinGen ExAC gnomAD |
|
CA390040344 rs1448965155 |
1901 | D>N | No |
ClinGen Ensembl |
|
CA390040333 rs747851511 |
1902 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7229886 rs747851511 |
1902 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7229884 rs200540305 |
1903 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs745394216 CA7229882 |
1904 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs145604702 CA7229881 |
1906 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs770527904 CA7229880 |
1907 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA7229879 rs368348495 |
1907 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA390040301 rs368348495 |
1907 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs576500528 CA7229878 |
1909 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs756115510 CA7229877 |
1910 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA262686798 rs756115510 |
1910 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1291643280 CA390040266 |
1912 | A>D | No |
ClinGen gnomAD |
|
rs752611530 CA7229876 |
1913 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs201489818 CA7229875 |
1913 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7229874 rs755057264 |
1914 | D>V | No |
ClinGen ExAC gnomAD |
|
CA390040250 rs1428484387 |
1915 | L>F | No |
ClinGen gnomAD |
|
CA7229871 rs149678681 |
1917 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs766604416 CA7229872 |
1917 | S>P | No |
ClinGen ExAC gnomAD |
|
CA7229869 rs374275794 |
1921 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
CA7229870 rs374275794 |
1921 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
CA7229868 rs201844140 |
1921 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1420592937 CA390040204 |
1922 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs764617663 CA390040191 |
1924 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs182057003 CA262686717 |
1924 | R>Q | No |
ClinGen 1000Genomes TOPMed |
|
rs764617663 CA7229866 |
1924 | R>W | Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs759057720 CA7229865 |
1925 | Q>L | No |
ClinGen ExAC gnomAD |
|
CA390040176 rs139457633 |
1926 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA390040181 rs1469854717 |
1926 | I>V | No |
ClinGen gnomAD |
|
rs1232851302 CA390040175 |
1927 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA390040136 rs1307874385 |
1932 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA7229850 rs754243214 |
1935 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1202249104 CA390040065 |
1941 | L>P | No |
ClinGen gnomAD |
|
CA390040050 rs1468563153 |
1943 | K>R | No |
ClinGen TOPMed |
|
CA7229847 rs772454723 |
1944 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs370190815 CA390040025 |
1946 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA390040016 rs1302137506 |
1948 | I>V | No |
ClinGen gnomAD |
|
CA7229844 rs772947721 |
1949 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390039999 rs1410690035 |
1950 | A>G | No |
ClinGen TOPMed |
|
rs138039383 CA7229843 RCV000756718 |
1952 | I>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1594755901 CA390039975 |
1954 | T>P | No |
ClinGen Ensembl |
|
CA7229841 rs776627782 |
1955 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7229842 rs747917733 COSM285341 |
1955 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA7229839 rs746858620 |
1956 | S>N | No |
ClinGen ExAC gnomAD |
|
CA7229840 rs768636719 |
1956 | S>R | No |
ClinGen ExAC gnomAD |
|
CA390039961 rs1041944546 |
1956 | S>R | No |
ClinGen TOPMed |
|
CA390039949 rs1594755885 |
1958 | N>T | No |
ClinGen Ensembl |
|
rs199572062 CA7229838 |
1959 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA7229837 rs758361668 |
1964 | E>G | No |
ClinGen ExAC gnomAD |
|
CA262685237 rs779077726 |
1966 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA7229836 rs143489400 |
1966 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA7229835 rs779077726 |
1966 | G>V | No |
ClinGen ExAC gnomAD |
|
CA7229834 rs144016437 |
1967 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1482611902 CA390039883 |
1968 | S>C | No |
ClinGen gnomAD |
|
rs1280691745 CA390039873 |
1970 | L>P | No |
ClinGen TOPMed gnomAD |
|
CA390039874 rs1280691745 |
1970 | L>Q | No |
ClinGen TOPMed gnomAD |
|
CA7229833 rs529298380 |
1972 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1594755834 CA390039851 |
1974 | H>D | No |
ClinGen Ensembl |
|
rs959784550 CA262685187 |
1974 | H>R | No |
ClinGen TOPMed gnomAD |
|
CA7229830 rs753088107 |
1976 | A>T | No |
ClinGen ExAC gnomAD |
|
CA7229804 rs201049665 |
1981 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7229803 rs201049665 |
1981 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs146513976 CA7229801 RCV000756714 |
1981 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs146513976 CA7229802 |
1981 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7229799 rs145664609 |
1982 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA390039746 rs1274699639 |
1988 | M>V | No |
ClinGen gnomAD |
|
CA7229797 rs749393104 |
1989 | S>C | No |
ClinGen ExAC gnomAD |
|
CA7229796 rs777814175 |
1990 | R>S | No |
ClinGen ExAC gnomAD |
|
CA7229795 rs368955956 |
1991 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1228595311 CA390039722 |
1991 | R>S | No |
ClinGen gnomAD |
|
rs1220872610 CA390039688 |
1996 | E>K | No |
ClinGen TOPMed |
|
rs573846501 CA7229794 |
1997 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA390039672 rs1395246319 |
1998 | W>R | No |
ClinGen gnomAD |
|
CA262684462 rs760877945 |
2000 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA7229793 rs376489437 |
2001 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs148593138 CA7229792 |
2001 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA262684428 rs148593138 |
2001 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1168342444 CA390039635 |
2003 | E>G | No |
ClinGen gnomAD |
|
rs144839610 CA7229790 |
2004 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7229789 rs372967907 |
2004 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7229791 rs144839610 |
2004 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA390039627 rs1454353070 |
2005 | L>F | No |
ClinGen gnomAD |
|
CA390039625 rs1254275602 |
2005 | L>P | No |
ClinGen gnomAD |
|
rs140490240 CA7229786 |
2006 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs767230972 CA7229785 |
2006 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767230972 CA7229784 |
2006 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767230972 CA390039621 |
2006 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA262684333 rs1027966609 |
2007 | M>I | No |
ClinGen Ensembl |
|
CA390039576 rs1377241560 |
2011 | V>A | No |
ClinGen gnomAD |
|
CA7229766 rs755580710 |
2012 | C>Y | No |
ClinGen ExAC gnomAD |
|
CA390039559 rs1413431965 |
2013 | Q>H | No |
ClinGen gnomAD |
|
CA390039562 rs1406790023 |
2013 | Q>R | No |
ClinGen gnomAD |
|
rs752332760 CA7229765 |
2015 | S>L | No |
ClinGen ExAC gnomAD |
|
rs754723993 CA7229763 |
2017 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs775701663 CA262682865 |
2019 | S>F | No |
ClinGen gnomAD |
|
CA390039517 rs1405939052 |
2020 | V>G | No |
ClinGen TOPMed |
|
rs1486186891 CA390039521 |
2020 | V>L | No |
ClinGen TOPMed gnomAD |
|
rs929734499 RCV001811591 CA262682848 |
2021 | A>P | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1028735989 CA262682846 |
2022 | E>D | No |
ClinGen TOPMed gnomAD |
|
CA390039501 rs367841692 |
2023 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA390039488 rs1327398928 |
2025 | L>V | No |
ClinGen gnomAD |
|
CA390039444 rs1287925327 |
2031 | Y>C | No |
ClinGen gnomAD |
|
rs745476248 COSM3956152 CA262682837 |
2034 | S>N | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA390039422 rs1206516197 |
2035 | G>R | No |
ClinGen TOPMed gnomAD |
|
CA390039420 rs1206516197 |
2035 | G>W | No |
ClinGen TOPMed gnomAD |
|
CA7229758 rs373697277 |
2039 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA390039380 rs1345709572 |
2040 | T>R | No |
ClinGen gnomAD |
|
CA7229756 rs776954379 |
2041 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1279582799 CA390039363 |
2043 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA390039360 rs1165149172 |
2043 | S>R | No |
ClinGen gnomAD |
|
CA390039362 rs1279582799 |
2043 | S>T | No |
ClinGen TOPMed gnomAD |
|
CA390039352 rs1416341754 |
2045 | E>K | No |
ClinGen gnomAD |
|
rs906427175 COSM348969 CA262682723 |
2050 | R>S | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA262682718 rs12888773 |
2051 | H>Q | No |
ClinGen Ensembl |
|
rs200806426 CA7229751 |
2057 | S>Y | No |
ClinGen 1000Genomes ExAC |
|
rs756849461 RCV001290762 CA7229750 |
2058 | T>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs780791721 CA7229748 |
2060 | S>G | No |
ClinGen ExAC gnomAD |
|
CA390039230 rs1302703654 |
2062 | A>E | No |
ClinGen gnomAD |
|
rs1310397240 CA390039227 |
2063 | E>K | No |
ClinGen gnomAD |
|
CA7229745 rs779889677 |
2064 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA7229746 rs779889677 |
2064 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs121918650 CA7229744 |
2064 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
RCV001810627 rs143894722 CA7229743 |
2065 | F>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1327732912 CA390039203 |
2067 | A>T | No |
ClinGen TOPMed |
|
rs1454069256 CA390039175 |
2071 | P>S | No |
ClinGen TOPMed |
|
CA7229741 rs138377308 |
2073 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA390039137 rs1235889026 |
2075 | E>G | No |
ClinGen gnomAD |
|
CA7229719 rs192618182 |
2079 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs759910047 CA7229717 |
2080 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs146990471 CA7229716 |
2081 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1361547791 CA390039100 |
2081 | I>V | No |
ClinGen TOPMed |
|
rs1164312867 CA390039095 |
2082 | A>T | No |
ClinGen TOPMed |
|
CA7229715 rs771454363 |
2083 | E>D | No |
ClinGen ExAC gnomAD |
|
rs1186658009 CA390039089 |
2083 | E>K | No |
ClinGen gnomAD |
|
CA7229713 rs773712048 |
2084 | R>I | No |
ClinGen ExAC gnomAD |
|
rs773712048 CA7229714 |
2084 | R>K | No |
ClinGen ExAC gnomAD |
|
rs746553902 CA390039070 |
2086 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746553902 CA7229711 COSM1227460 |
2086 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA7229710 rs201339590 |
2087 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs201339590 CA7229709 |
2087 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA7229687 rs771754701 |
2091 | P>L | No |
ClinGen ExAC gnomAD |
|
rs745447608 CA7229686 CA262681626 |
2093 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1328912901 CA390038920 |
2093 | E>K | No |
ClinGen gnomAD |
|
rs748216421 CA262681623 |
2094 | E>K | No |
ClinGen Ensembl |
|
rs774068563 CA7229685 |
2094 | E>V | No |
ClinGen ExAC gnomAD |
|
CA390038857 rs1312598730 |
2100 | G>R | No |
ClinGen gnomAD |
|
rs1330172047 CA390038814 |
2103 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs749123042 CA7229683 RCV001002502 |
2105 | S>A | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1395474623 CA390038786 |
2105 | S>F | No |
ClinGen gnomAD |
|
rs1456168742 CA390038780 |
2106 | H>D | No |
ClinGen TOPMed gnomAD |
|
rs1456168742 CA390038781 |
2106 | H>Y | No |
ClinGen TOPMed gnomAD |
|
rs1566741532 CA390038758 |
2107 | H>L | No |
ClinGen Ensembl |
|
rs1594752693 CA390038749 |
2107 | H>Q | No |
ClinGen Ensembl |
|
CA7229682 rs369676353 |
2108 | A>V | No |
ClinGen ESP ExAC TOPMed |
|
rs1193748994 CA390038731 |
2109 | A>T | No |
ClinGen gnomAD |
|
rs748245626 CA7229680 |
2109 | A>V | No |
ClinGen ExAC gnomAD |
|
CA7229675 rs758734157 |
2111 | E>K | No |
ClinGen ExAC gnomAD |
|
CA7229676 rs758734157 |
2111 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs750835527 CA7229674 |
2113 | T>M | No |
ClinGen ExAC gnomAD |
|
rs762377368 CA7229672 |
2115 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390038660 rs1212051430 |
2115 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs112886579 CA262681531 |
2116 | V>G | No |
ClinGen Ensembl |
|
CA262681479 rs375155686 |
2120 | S>F | No |
ClinGen ESP TOPMed |
|
rs773831998 CA7229668 |
2121 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7229667 rs770745304 |
2121 | R>H | No |
ClinGen ExAC gnomAD |
|
CA390038603 rs1205508644 |
2122 | L>F | No |
ClinGen TOPMed |
|
rs151232626 CA7229666 |
2122 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7229665 rs773195221 |
2124 | S>R | No |
ClinGen ExAC gnomAD |
|
CA390038578 rs1384892799 |
2126 | W>R | No |
ClinGen gnomAD |
|
CA7229664 rs769849087 |
2126 | W>S | No |
ClinGen ExAC gnomAD |
|
CA7229663 rs747968623 |
2129 | L>V | No |
ClinGen ExAC gnomAD |
|
rs371741651 CA7229662 |
2133 | P>S | No |
ClinGen ESP ExAC |
|
rs368060934 CA262681428 |
2134 | S>F | No |
ClinGen ESP TOPMed |
|
CA7229659 rs747154534 |
2136 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA262681406 rs747154534 |
2136 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7229660 rs768567783 |
2136 | P>T | No |
ClinGen ExAC gnomAD |
|
CA7229658 rs780235497 |
2137 | Y>C | No |
ClinGen ExAC gnomAD |
No associated diseases with P11277
4 regional properties for P11277
11 GO annotations of cellular component
Name | Definition |
---|---|
actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
cell junction | A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. |
cell projection | A prolongation or process extending from a cell, e.g. a flagellum or axon. |
cell surface | The external part of the cell wall and/or plasma membrane. |
cortical actin cytoskeleton | The portion of the actin cytoskeleton, comprising filamentous actin and associated proteins, that lies just beneath the plasma membrane. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
intrinsic component of the cytoplasmic side of the plasma membrane | The component of a plasma membrane consisting of gene products and protein complexes that have some covalently attached part (e.g. peptide sequence or GPI anchor) which is embedded in the cytoplasmic side of the plasma membrane only. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
spectrin | Membrane associated dimeric protein (240 and 220 kDa) of erythrocytes. Forms a complex with ankyrin, actin and probably other components of the membrane cytoskeleton, so that there is a mesh of proteins underlying the plasma membrane, potentially restricting the lateral mobility of integral proteins. |
spectrin-associated cytoskeleton | The part of the cytoskeleton composed of spectrin, protein 4.1 and ankyrin. Spectrin-associated cytoskeleton is associated with the plasma membrane. |
4 GO annotations of molecular function
Name | Definition |
---|---|
actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
ankyrin binding | Binding to ankyrin, a 200 kDa cytoskeletal protein that attaches other cytoskeletal proteins to integral membrane proteins. |
structural constituent of cytoskeleton | The action of a molecule that contributes to the structural integrity of a cytoskeletal structure. |
2 GO annotations of biological process
Name | Definition |
---|---|
actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
actin filament capping | The binding of a protein or protein complex to the end of an actin filament, thus preventing the addition, exchange or removal of further actin subunits. |
9 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
O15020 | SPTBN2 | Spectrin beta chain, non-erythrocytic 2 | Homo sapiens (Human) | PR |
Q01082 | SPTBN1 | Spectrin beta chain, non-erythrocytic 1 | Homo sapiens (Human) | PR |
P35609 | ACTN2 | Alpha-actinin-2 | Homo sapiens (Human) | EV |
Q08043 | ACTN3 | Alpha-actinin-3 | Homo sapiens (Human) | SS |
O43707 | ACTN4 | Alpha-actinin-4 | Homo sapiens (Human) | SS |
P12814 | ACTN1 | Alpha-actinin-1 | Homo sapiens (Human) | SS |
Q62261 | Sptbn1 | Spectrin beta chain, non-erythrocytic 1 | Mus musculus (Mouse) | PR |
P15508 | Sptb | Spectrin beta chain, erythrocytic | Mus musculus (Mouse) | PR |
Q9QWN8 | Sptbn2 | Spectrin beta chain, non-erythrocytic 2 | Rattus norvegicus (Rat) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MTSATEFENV | GNQPPYSRIN | ARWDAPDDEL | DNDNSSARLF | ERSRIKALAD | EREVVQKKTF |
70 | 80 | 90 | 100 | 110 | 120 |
TKWVNSHLAR | VSCRITDLYK | DLRDGRMLIK | LLEVLSGEML | PKPTKGKMRI | HCLENVDKAL |
130 | 140 | 150 | 160 | 170 | 180 |
QFLKEQRVHL | ENMGSHDIVD | GNHRLVLGLI | WTIILRFQIQ | DIVVQTQEGR | ETRSAKDALL |
190 | 200 | 210 | 220 | 230 | 240 |
LWCQMKTAGY | PHVNVTNFTS | SWKDGLAFNA | LIHKHRPDLI | DFDKLKDSNA | RHNLEHAFNV |
250 | 260 | 270 | 280 | 290 | 300 |
AERQLGIIPL | LDPEDVFTEN | PDEKSIITYV | VAFYHYFSKM | KVLAVEGKRV | GKVIDHAIET |
310 | 320 | 330 | 340 | 350 | 360 |
EKMIEKYSGL | ASDLLTWIEQ | TITVLNSRKF | ANSLTGVQQQ | LQAFSTYRTV | EKPPKFQEKG |
370 | 380 | 390 | 400 | 410 | 420 |
NLEVLLFTIQ | SRMRANNQKV | YTPHDGKLVS | DINRAWESLE | EAEYRRELAL | RNELIRQEKL |
430 | 440 | 450 | 460 | 470 | 480 |
EQLARRFDRK | AAMRETWLSE | NQRLVAQDNF | GYDLAAVEAA | KKKHEAIETD | TAAYEERVRA |
490 | 500 | 510 | 520 | 530 | 540 |
LEDLAQELEK | ENYHDQKRIT | ARKDNILRLW | SYLQELLQSR | RQRLETTLAL | QKLFQDMLHS |
550 | 560 | 570 | 580 | 590 | 600 |
IDWMDEIKAH | LLSAEFGKHL | LEVEDLLQKH | KLMEADIAIQ | GDKVKAITAA | TLKFTEGKGY |
610 | 620 | 630 | 640 | 650 | 660 |
QPCDPQVIQD | RISHLEQCFE | ELSNMAAGRK | AQLEQSKRLW | KFFWEMDEAE | SWIKEKEQIY |
670 | 680 | 690 | 700 | 710 | 720 |
SSLDYGKDLT | SVLILQRKHK | AFEDELRGLD | AHLEQIFQEA | HGMVARKQFG | HPQIEARIKE |
730 | 740 | 750 | 760 | 770 | 780 |
VSAQWDQLKD | LAAFCKKNLQ | DAENFFQFQG | DADDLKAWLQ | DAHRLLSGED | VGQDEGATRA |
790 | 800 | 810 | 820 | 830 | 840 |
LGKKHKDFLE | ELEESRGVME | HLEQQAQGFP | EEFRDSPDVT | HRLQALRELY | QQVVAQADLR |
850 | 860 | 870 | 880 | 890 | 900 |
QQRLQEALDL | YTVFGETDAC | ELWMGEKEKW | LAEMEMPDTL | EDLEVVQHRF | DILDQEMKTL |
910 | 920 | 930 | 940 | 950 | 960 |
MTQIDGVNLA | ANSLVESGHP | RSREVKQYQD | HLNTRWQAFQ | TLVSERREAV | DSALRVHNYC |
970 | 980 | 990 | 1000 | 1010 | 1020 |
VDCEETSKWI | TDKTKVVEST | KDLGRDLAGI | IAIQRKLSGL | ERDVAAIQAR | VDALERESQQ |
1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
LMDSHPEQKE | DIGQRQKHLE | ELWQGLQQSL | QGQEDLLGEV | SQLQAFLQDL | DDFQAWLSIT |
1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
QKAVASEDMP | ESLPEAEQLL | QQHAGIKDEI | DGHQDSYQRV | KESGEKVIQG | QTDPEYLLLG |
1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
QRLEGLDTGW | NALGRMWESR | SHTLAQCLGF | QEFQKDAKQA | EAILSNQEYT | LAHLEPPDSL |
1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
EAAEAGIRKF | EDFLGSMENN | RDKVLSPVDS | GNKLVAEGNL | YSDKIKEKVQ | LIEDRHRKNN |
1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
EKAQEASVLL | RDNLELQNFL | QNCQELTLWI | NDKLLTSQDV | SYDEARNLHN | KWLKHQAFVA |
1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
ELASHEGWLE | NIDAEGKQLM | DEKPQFTALV | SQKLEALHRL | WDELQATTKE | KTQHLSAARS |
1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
SDLRLQTHAD | LNKWISAMED | QLRSDDPGKD | LTSVNRMLAK | LKRVEDQVNV | RKEELGELFA |
1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
QVPSMGEEGG | DADLSIEKRF | LDLLEPLGRR | KKQLESSRAK | LQISRDLEDE | TLWVEERLPL |
1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
AQSADYGTNL | QTVQLFMKKN | QTLQNEILGH | TPRVEDVLQR | GQQLVEAAEI | DCQDLEERLG |
1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
HLQSSWDRLR | EAAAGRLQRL | RDANEAQQYY | LDADEAEAWI | GEQELYVISD | EIPKDEEGAI |
1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
VMLKRHLRQQ | RAVEDYGRNI | KQLASRAQGL | LSAGHPEGEQ | IIRLQGQVDK | HYAGLKDVAE |
1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
ERKRKLENMY | HLFQLKRETD | DLEQWISEKE | LVASSPEMGQ | DFDHVTLLRD | KFRDFARETG |
1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
AIGQERVDNV | NAFIERLIDA | GHSEAATIAE | WKDGLNEMWA | DLLELIDTRM | QLLAASYDLH |
1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
RYFYTGAEIL | GLIDEKHREL | PEDVGLDAST | AESFHRVHTA | FERELHLLGV | QVQQFQDVAT |
1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
RLQTAYAGEK | AEAIQNKEQE | VSAAWQALLD | ACAGRRTQLV | DTADKFRFFS | MARDLLSWME |
1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
SIIRQIETQE | RPRDVSSVEL | LMKYHQGINA | EIETRSKNFS | ACLELGESLL | QRQHQASEEI |
1990 | 2000 | 2010 | 2020 | 2030 | 2040 |
REKLQQVMSR | RKEMNEKWEA | RWERLRMLLE | VCQFSRDASV | AEAWLIAQEP | YLASGDFGHT |
2050 | 2060 | 2070 | 2080 | 2090 | 2100 |
VDSVEKLIKR | HEAFEKSTAS | WAERFAALEK | PTTLELKERQ | IAERPAEETG | PQEEEGETAG |
2110 | 2120 | 2130 | |||
EAPVSHHAAT | ERTSPVSLWS | RLSSSWESLQ | PEPSHPY |