P01266
PR
Gene name |
TG |
Protein name |
Thyroglobulin |
Names |
Tg |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7038 |
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
2744 variants for P01266
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs780846892 CA4882765 RCV001170075 |
16 | W>* | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs371315184 CA4882789 RCV001161224 |
32 | R>C | Iodotyrosyl coupling defect Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA372244926 RCV001161228 rs1303871583 |
54 | E>Q | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs116340633 RCV001162774 RCV000962341 CA4882826 |
67 | G>S | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4882834 RCV003155217 RCV000501874 RCV000764740 rs142698837 RCV000760170 RCV001729618 |
77 | G>S | Iodotyrosyl coupling defect TG-Related Disorders [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000503286 rs1554649344 |
90 | V>missing | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000954445 CA4882873 rs35301433 RCV001162775 |
109 | I>V | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4882878 rs114322847 RCV001162776 |
118 | P>L | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP gnomAD |
|
RCV000326360 rs761251603 CA4882883 |
127 | A>T | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4882888 RCV001162777 RCV002483915 rs115677932 |
129 | V>I | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs372138161 RCV001164844 CA4882903 |
152 | R>C | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001164845 rs114781869 RCV001751295 CA4882904 RCV002505745 |
152 | R>H | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4882908 COSM1623625 rs759267330 RCV001329059 |
159 | R>* | Iodotyrosyl coupling defect Variant assessed as Somatic; 0.0 impact. liver [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001164847 CA4882934 rs767567015 |
163 | S>N | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_063034 | 183 | C>Y | TDH3 [UniProt] | Yes | UniProt |
|
CA4882950 rs142432006 COSM1096275 RCV002466492 RCV000383418 |
185 | A>V | Iodotyrosyl coupling defect Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1814692109 RCV001270324 |
217 | A>missing | Congenital hypothyroidism [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000329759 rs886062701 CA10630285 |
233 | G>E | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA4883021 rs146926250 RCV002491464 RCV001159940 RCV001751292 |
283 | R>Q | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001270319 CA210703 RCV000013532 RCV002496346 RCV000299644 rs121912648 |
296 | R>* | Iodotyrosyl coupling defect Congenital hypothyroidism [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs199712883 RCV002480566 RCV001159941 CA4883054 |
309 | T>A | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000988117 rs1001892478 CA186282373 |
316 | V>I | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4883065 RCV001329669 rs138561283 |
320 | R>C | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP gnomAD |
|
CA4883079 RCV001159943 RCV002491465 RCV002558509 rs61745783 |
331 | Q>H | Iodotyrosyl coupling defect Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001159945 COSM3432138 RCV002558510 rs113998044 CA4883092 |
350 | R>Q | Iodotyrosyl coupling defect Variant assessed as Somatic; 0.0 impact. large_intestine Inborn genetic diseases [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs778849740 RCV000013536 |
382 | Y>missing | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002558537 rs149822114 CA4883161 RCV001161338 |
442 | E>G | Iodotyrosyl coupling defect Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002536858 rs748309986 RCV000779551 CA4883165 |
445 | R>* | Iodotyrosyl coupling defect Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001161340 CA4883174 rs61741644 |
455 | R>H | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4883200 rs192077055 RCV000279503 |
511 | N>S | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs180222 CA4883201 VAR_016190 RCV000336766 RCV000248965 |
515 | Q>E | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000954120 CA4883209 RCV000407155 rs116062097 RCV000499577 |
523 | S>P | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000902126 CA4883210 RCV001162888 rs140232663 |
525 | G>R | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002558558 rs763864684 CA4883219 RCV001162889 |
543 | T>S | Iodotyrosyl coupling defect Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10627092 rs886062703 RCV000302472 |
561 | N>D | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA4883236 RCV001162891 rs764293101 |
588 | P>T | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs139516987 CA4883240 COSM1240408 RCV000340940 RCV002523630 |
601 | T>M | Iodotyrosyl coupling defect oesophagus Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs772505924 RCV001164970 CA4883248 |
612 | P>R | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs552359043 RCV000407176 RCV000898524 CA4883247 |
612 | P>T | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4883255 rs144254329 RCV001164971 COSM1096284 |
621 | T>M | Iodotyrosyl coupling defect endometrium Variant assessed as Somatic; 0.000282 impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000903080 rs116417639 CA4883266 COSM1096285 RCV000363126 |
634 | G>R | Iodotyrosyl coupling defect endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001310641 VAR_016853 rs2069548 CA4883276 RCV001164972 |
653 | G>D | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000778851 rs771807370 CA4883278 |
655 | Q>* | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4883288 RCV001164973 RCV002558597 rs140030169 |
673 | M>T | Iodotyrosyl coupling defect Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs184474552 CA372232686 RCV001160052 |
679 | G>D | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4883299 rs114115584 RCV001160053 |
693 | F>L | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1815591671 RCV001270321 |
712 | A>missing | Congenital hypothyroidism [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200611812 RCV000270499 CA4883316 |
717 | R>Q | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_010213 rs180223 RCV000309189 RCV000013534 CA122636 RCV000253912 |
734 | S>A | Iodotyrosyl coupling defect Autoimmune thyroid disease, susceptibility to, 3 (aitd3) Autoimmune thyroid disease, susceptibility to, 3 associated with AITD3 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001270327 rs1815680018 |
746 | L>missing | Congenital hypothyroidism [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4883369 rs766295732 RCV001329058 |
759 | Y>C | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs144826790 CA4883375 RCV001160054 |
767 | G>R | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs746224898 CA4883379 RCV001160055 RCV002558512 |
775 | N>H | Iodotyrosyl coupling defect Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4883381 VAR_049077 RCV000903127 RCV000274431 rs3739274 |
777 | P>L | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4883390 rs752966476 RCV000778925 |
787 | R>* | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1563913177 RCV001161461 |
815 | G>E | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000388671 VAR_049078 CA4883405 rs16904774 |
815 | G>R | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000277985 rs886062704 CA10624825 |
819 | L>F | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001161462 CA4883413 VAR_010214 rs2076737 |
830 | Q>E | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
rs115361039 CA4883431 RCV001162993 RCV000963650 |
854 | R>Q | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000434871 RCV000316549 RCV002523631 CA4883430 rs202196940 RCV002481241 |
854 | R>W | Iodotyrosyl coupling defect Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_002365 RCV000013527 RCV001002732 CA210696 RCV000880032 rs2229843 |
870 | Q>H | Iodotyrosyl coupling defect Premature ovarian failure [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002546611 RCV001333107 CA372237027 rs201893722 |
880 | P>L | Iodotyrosyl coupling defect Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
CA4883450 rs142469107 RCV000373462 |
896 | R>W | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs755672784 CA4883456 RCV000281352 |
903 | E>D | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs773538206 CA4883463 RCV000338757 |
913 | S>P | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs554879042 CA4883501 RCV001165075 |
930 | L>F | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs200208174 RCV001165077 CA4883512 RCV002558601 |
940 | E>A | Iodotyrosyl coupling defect Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000948807 RCV001165078 rs16893332 CA4883551 |
988 | R>H | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_049079 CA4883550 rs16893332 RCV000401261 |
988 | R>P | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000307648 CA4883554 rs142998186 |
993 | A>T | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4883555 RCV000346158 RCV000897362 rs111363334 |
994 | I>V | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000490475 rs115936153 RCV001818511 CA4883596 RCV000964302 |
1012 | P>L | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001158366 rs114772213 RCV002483903 CA4883600 |
1014 | D>H | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA122638 RCV001675580 RCV000013535 RCV000368266 VAR_010215 RCV000254213 rs853326 |
1028 | M>V | Iodotyrosyl coupling defect Autoimmune thyroid disease, susceptibility to, 3 (aitd3) Autoimmune thyroid disease, susceptibility to, 3 AITD3; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002524546 rs780538772 RCV000276023 CA4883615 |
1033 | A>V | Iodotyrosyl coupling defect Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1817399017 RCV001161577 |
1058 | F>Y | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinVar dbSNP |
|
rs11992497 CA4883653 RCV001727709 RCV000959036 RCV000276378 VAR_049080 |
1063 | L>M | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001161578 rs116119508 CA4883656 |
1066 | R>H | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA210707 rs137854433 RCV000013539 |
1077 | C>R | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000272792 rs745902921 CA10630302 |
1081 | R>G | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001163105 CA4883706 rs115670342 RCV000884446 |
1105 | V>I | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000501737 CA4883740 rs375727924 RCV000327788 |
1133 | E>K | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs750140968 RCV001163106 CA4883744 |
1136 | R>Q | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs766130576 RCV001270328 |
1151 | V>missing | Congenital hypothyroidism [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4883764 RCV000968131 RCV001163107 rs61746583 |
1165 | Y>C | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000382408 CA4883785 RCV001727710 RCV000892560 rs138469414 |
1195 | G>R | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs142335537 RCV000288011 RCV000949947 CA4883836 |
1216 | P>L | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4883846 RCV000950738 rs12549018 COSM1454959 RCV002489303 RCV001165188 VAR_049081 |
1222 | S>L | Iodotyrosyl coupling defect large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000013530 CA210700 rs121912647 |
1245 | C>R | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4883871 RCV000324285 rs114944116 RCV000888295 |
1250 | R>L | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs183333809 RCV000378687 CA4883880 |
1259 | P>L | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4883885 VAR_010216 rs2076738 |
1264 | C>R | TDH3; autosomal recessive [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000149144 COSM1180173 rs193920926 CA174439 |
1296 | F>I | Malignant tumor of prostate prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000241944 VAR_010217 RCV000280505 CA4883953 rs2069556 |
1312 | D>G | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4883957 rs765831974 RCV000335521 |
1318 | Q>R | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA4883960 rs535936483 RCV000314482 |
1328 | R>C | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA4883961 COSM1096294 RCV002557354 rs141146573 RCV001158477 |
1328 | R>H | Iodotyrosyl coupling defect endometrium Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs748883405 RCV001158478 CA4883964 |
1332 | Q>H | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4884013 RCV001158479 RCV001751291 rs142264604 |
1365 | N>Y | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4884024 RCV001158480 rs548761622 |
1384 | H>R | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM3358217 RCV000956674 CA4884061 rs115263899 RCV000391527 |
1398 | R>H | Iodotyrosyl coupling defect haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs757789897 CA4884070 RCV001161692 |
1415 | K>Q | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA372246348 RCV001161693 rs374574993 |
1419 | A>E | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4884074 RCV001161694 rs374574993 |
1419 | A>V | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000311184 CA4884078 rs200236155 |
1423 | R>C | Iodotyrosyl coupling defect Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA186306869 rs989763340 RCV000988118 |
1457 | L>V | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000999075 CA4884102 RCV000778926 rs199615848 |
1460 | V>I | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000413485 rs146498231 RCV000361901 CA4884139 RCV002504182 |
1494 | P>L | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4884140 rs61740825 RCV000967105 RCV001163209 |
1495 | V>A | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM150548 rs74590117 RCV001163210 RCV000953588 CA4884141 |
1498 | T>M | Iodotyrosyl coupling defect stomach [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000881430 rs114305064 CA4884168 RCV002536829 |
1513 | D>Y | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM3785870 CA210698 RCV000013528 RCV000579142 RCV002482861 RCV001270322 rs121912646 |
1530 | R>* | lung Iodotyrosyl coupling defect Variant assessed as Somatic; 0.0 impact. pancreas Congenital hypothyroidism [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001165309 CA4884290 RCV000906150 rs115902639 |
1620 | T>M | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000373691 rs112003182 RCV002523632 CA4884293 |
1621 | T>K | Iodotyrosyl coupling defect Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4884328 rs115509019 RCV000279090 RCV002480249 |
1661 | R>H | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000999076 RCV001165310 CA4884329 rs180705321 |
1664 | V>M | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs372120245 CA4884330 RCV001158579 |
1668 | S>N | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001158580 CA4884362 RCV000899498 rs375968742 |
1691 | R>C | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs61744678 RCV000352867 CA4884368 |
1707 | P>S | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000956675 rs61744679 RCV000389981 CA4884370 |
1708 | I>V | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA210826 rs199599591 RCV000190631 |
1728 | C>* | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4884386 RCV001270326 rs376200169 |
1728 | C>R | Congenital hypothyroidism [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000294190 rs61744749 CA4884388 RCV000956676 |
1729 | D>A | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002523633 CA4884389 rs200793895 RCV000349166 |
1730 | R>C | Variant assessed as Somatic; 9.24e-05 impact. Iodotyrosyl coupling defect Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_049082 RCV000881431 CA4884399 rs16904791 RCV001158581 |
1740 | T>K | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001270339 rs112749206 RCV000883878 |
1767 | D>missing | Congenital hypothyroidism [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4884466 RCV001270323 rs73710715 RCV000309599 RCV000883879 |
1790 | I>M | Iodotyrosyl coupling defect Congenital hypothyroidism [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4884468 COSM3318281 RCV001161802 rs140063357 |
1792 | R>H | Iodotyrosyl coupling defect haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs754658907 RCV000363367 CA4884470 |
1796 | Q>* | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs148982115 CA4884534 RCV000391660 |
1829 | R>W | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000305066 rs2069561 VAR_010218 CA4884537 RCV000242253 RCV001651176 |
1838 | D>N | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001161803 rs1828596504 |
1852 | T>A | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000013541 CA210710 rs121912649 RCV002273929 VAR_063035 |
1897 | C>Y | Iodotyrosyl coupling defect TDH3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs141191791 RCV000906539 RCV002537598 CA4884640 RCV001163317 |
1952 | R>Q | Iodotyrosyl coupling defect Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA372235129 rs1255388549 RCV000778852 |
1965 | Y>* | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA4884679 rs56230101 VAR_061173 RCV000246840 RCV000261810 |
1974 | M>T | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs752307255 RCV001165416 CA4884686 |
1989 | I>V | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA4884721 rs190914906 RCV000371741 |
1995 | E>G | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000013531 CA210702 VAR_010219 rs2076739 |
1996 | C>S | Iodotyrosyl coupling defect TDH3; autosomal recessive [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000251808 VAR_010220 CA122634 rs2076740 RCV001723563 RCV000013533 RCV000277644 |
1999 | R>W | Iodotyrosyl coupling defect Autoimmune thyroid disease, susceptibility to, 3 (aitd3) Autoimmune thyroid disease, susceptibility to, 3 benign variant [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002483921 COSM604042 CA4884725 RCV001165417 rs199923962 RCV001529622 |
2001 | D>N | lung Iodotyrosyl coupling defect [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001165419 rs973259430 |
2057 | T>N | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000895861 RCV000332669 rs115436575 CA4884801 CA4884800 |
2061 | G>R | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs755677679 RCV001158693 CA4884838 |
2082 | P>L | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001158694 RCV000959038 rs61743198 CA4884868 |
2091 | D>G | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000377668 rs375424292 CA4884886 RCV000778853 |
2127 | R>* | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000247563 CA4884889 RCV001618426 rs61741457 RCV001158696 |
2132 | S>L | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001158698 rs377383606 CA4884933 |
2173 | R>Q | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs555719562 RCV001161909 COSM141249 CA4884934 |
2177 | R>C | upper_aerodigestive_tract Iodotyrosyl coupling defect [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001161910 CA4884935 rs761804509 |
2177 | R>H | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4884987 rs150133670 RCV001161912 RCV001593300 |
2202 | P>R | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001161913 RCV002558544 COSM254982 rs750846435 CA4884990 |
2208 | R>W | Iodotyrosyl coupling defect Variant assessed as Somatic; 0.0 impact. urinary_tract Inborn genetic diseases [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000892465 RCV000347685 CA4884995 rs138690529 |
2216 | I>V | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs761974404 CA4885006 RCV001161914 |
2227 | Q>H | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_063036 CA4885008 rs370991693 RCV001270320 |
2234 | A>D | Congenital hypothyroidism TDH3; reduces thyroglobulin synthesis and secretion; promotes thyroglobulin retention within the endoplasmic reticulum [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_016863 RCV000013537 RCV001329060 CA210705 RCV001551747 rs2069566 |
2242 | R>H | Iodotyrosyl coupling defect Autoimmune thyroid disease, susceptibility to, 3 [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1472210977 CA372233909 RCV001163433 |
2257 | A>V | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA372234223 rs1229345000 RCV001175129 |
2264 | C>Y | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001163435 CA4885039 rs754805539 |
2266 | Q>R | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000342853 rs201930579 CA4885086 |
2318 | D>N | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4885093 RCV001329061 rs752587385 |
2330 | V>M | Iodotyrosyl coupling defect Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_063037 RCV000013542 CA210711 rs121912650 RCV002496347 COSM116480 |
2336 | R>Q | kidney ovary Iodotyrosyl coupling defect Variant assessed as Somatic; 0.0 impact. TDH3 [Cosmic, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_078338 | 2336 | R>del | TDH3; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs898275076 COSM1551755 CA186294724 RCV000656568 |
2341 | G>S | lung Iodotyrosyl coupling defect Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
rs534667194 RCV000400057 CA4885139 |
2371 | R>Q | Iodotyrosyl coupling defect Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
VAR_063038 CA210709 RCV000013540 rs137854434 |
2375 | G>R | Iodotyrosyl coupling defect Variant assessed as Somatic; 0.0 impact. TDH3 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA4885142 rs778035632 RCV001163723 |
2378 | R>W | Iodotyrosyl coupling defect Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1229074 RCV001163724 CA4885145 rs377043149 |
2379 | R>H | Iodotyrosyl coupling defect large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs777005576 COSM749266 CA4885154 RCV000303259 |
2388 | G>R | lung Iodotyrosyl coupling defect [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10624846 RCV000339250 rs149050873 |
2401 | A>V | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs73354644 RCV000407987 CA4885589 |
2422 | A>T | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001158804 RCV002558401 rs201444172 RCV002505737 CA4885612 |
2455 | R>C | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001158805 RCV000913070 VAR_049083 rs2272707 CA4885613 |
2455 | R>H | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4885640 rs61730222 RCV000947135 RCV001158808 |
2472 | V>L | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001158807 CA4885641 rs61730222 COSM265544 |
2472 | V>M | Iodotyrosyl coupling defect large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4885662 VAR_010221 RCV000244259 RCV000354501 rs2069569 CA372245226 |
2501 | W>R | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs12114109 CA4885713 RCV000274579 VAR_049085 |
2526 | F>L | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4885714 VAR_010222 RCV000249422 RCV001610636 RCV000329782 rs1133076 |
2530 | R>Q | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs565384161 RCV001163532 CA4885717 |
2532 | R>W | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001163533 CA4885722 rs769168191 |
2539 | F>L | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001163534 rs1389900376 CA372249770 |
2544 | Q>H | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000903954 rs2979042 CA4885727 RCV000384284 |
2547 | L>Q | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4885730 RCV002523634 RCV000271223 rs199724462 |
2550 | E>K | Iodotyrosyl coupling defect Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4885732 RCV001163536 rs535231848 |
2553 | D>N | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs370013278 CA4885734 RCV001333112 |
2555 | R>C | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4885757 RCV000897827 rs114211101 RCV000778854 |
2585 | R>W | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4885807 RCV000968850 rs10091530 RCV001163833 |
2616 | N>I | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4885806 RCV000287087 VAR_049086 rs10091530 |
2616 | N>S | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA186346814 rs978923522 RCV001270325 |
2620 | G>D | Congenital hypothyroidism [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs748852916 RCV000377971 CA4885837 |
2641 | E>Q | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4885878 COSM454059 RCV000949747 rs114613744 RCV001163834 |
2676 | R>W | Iodotyrosyl coupling defect breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001329062 rs1852105706 |
2685 | W>* | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4885888 rs775377530 RCV001158913 |
2692 | A>V | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001158914 rs763672890 CA4885912 |
2723 | S>L | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA4885948 rs777891366 RCV001158916 |
2735 | G>R | Iodotyrosyl coupling defect Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000778855 rs758002273 |
2736 | Q>missing | Iodotyrosyl coupling defect [ClinVar] | Yes |
ClinVar dbSNP |
|
CA372243984 rs1256883610 |
3 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4882761 rs755500716 |
3 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA372244020 rs1316252643 |
5 | L>P | No |
ClinGen TOPMed |
|
|
CA372244075 rs1403969743 |
8 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1332458708 CA372244091 |
9 | T>I | No |
ClinGen gnomAD |
|
|
rs1587143065 CA372244084 |
9 | T>P | No |
ClinGen Ensembl |
|
|
CA186323803 rs376079122 |
10 | L>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA372244124 rs1278421972 |
11 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 12 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753032118 CA4882763 |
13 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA186323826 rs544043844 |
14 | I>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs577354103 CA186323831 |
14 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA4882764 rs577354103 |
14 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA372244189 rs1268394257 |
15 | C>F | No |
ClinGen gnomAD |
|
|
CA372244186 rs1268394257 |
15 | C>S | No |
ClinGen gnomAD |
|
|
CA4882766 rs745469083 |
18 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866066332 CA186323841 |
19 | A>T | No |
ClinGen Ensembl |
|
|
rs1587143282 CA372244279 |
20 | N>S | No |
ClinGen Ensembl |
|
|
CA4882768 rs779612122 |
20 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA186323849 rs574422251 |
21 | I>V | No |
ClinGen 1000Genomes gnomAD |
|
| rs143647619 | 22 | F>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143647619 CA186323850 |
22 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372244314 rs1340994770 |
22 | F>L | No |
ClinGen TOPMed |
|
|
CA186323852 rs1024568791 |
23 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 24 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4882784 rs755777744 |
25 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372244624 rs755777744 |
25 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372244631 rs779477989 |
26 | V>L | No |
ClinGen ExAC TOPMed |
|
|
CA4882785 rs779477989 |
26 | V>M | No |
ClinGen ExAC TOPMed |
|
|
CA186324738 rs930523065 |
27 | D>V | No |
ClinGen Ensembl |
|
|
rs114543085 CA4882786 |
28 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000521328 CA372244650 rs1554648860 |
29 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA4882787 rs754496117 |
30 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1404590444 CA372244666 |
31 | L>P | No |
ClinGen gnomAD |
|
|
rs146814857 CA4882790 |
32 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771157696 CA372244747 |
39 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4882794 rs776679893 |
39 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs771157696 CA4882793 |
39 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs539574101 CA4882797 |
40 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA4882796 rs539574101 |
40 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1192657763 CA372244832 |
46 | A>T | No |
ClinGen gnomAD |
|
|
rs1208857552 CA372244845 |
47 | D>N | No |
ClinGen TOPMed |
|
|
CA372244864 rs1478582021 |
48 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM3412765 CA4882802 rs371271403 |
49 | V>M | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA372244918 rs1324784516 |
53 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 53 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372244936 rs1404981492 |
54 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1050036878 CA186324852 |
55 | D>H | No |
ClinGen Ensembl |
|
|
rs754545420 CA4882804 |
57 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA4882806 rs748159184 |
58 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239281001 CA372245799 |
59 | Q>H | No |
ClinGen gnomAD |
|
|
CA186324865 rs151097288 |
59 | Q>R | No |
ClinGen ESP |
|
|
CA372245803 rs1286496966 |
60 | T>A | No |
ClinGen gnomAD |
|
|
CA4882823 rs764894011 |
65 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA372245884 rs1186537684 |
66 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA372245886 rs1186537684 |
66 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1245830644 CA372245878 |
66 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4882827 rs751397153 |
68 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs372569175 CA4882828 |
68 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1021463864 CA186325896 |
69 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1163103737 CA372245934 |
70 | C>Y | No |
ClinGen gnomAD |
|
|
CA372246011 rs1435298716 |
72 | C>Y | No |
ClinGen TOPMed |
|
|
rs138610595 CA4882830 |
73 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000426382 CA4882829 rs780845778 |
73 | V>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA4882831 rs769981003 |
74 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs986876941 CA186325910 |
74 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1379009545 CA372246051 |
75 | A>T | No |
ClinGen gnomAD |
|
|
CA372246080 rs1406860064 |
76 | N>S | No |
ClinGen gnomAD |
|
|
rs1461934982 CA372246110 |
77 | G>D | No |
ClinGen TOPMed |
|
|
CA372246129 CA372246127 rs1371359714 |
78 | S>R | No |
ClinGen TOPMed |
|
|
CA4882835 rs146942828 |
79 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1587158631 CA372246154 |
80 | V>G | No |
ClinGen Ensembl |
|
|
rs1450292337 CA372246179 |
82 | G>D | No |
ClinGen TOPMed |
|
|
CA372246195 rs1249127652 |
83 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1181511105 CA372246217 |
85 | Q>K | No |
ClinGen TOPMed |
|
|
rs772551103 CA4882837 |
86 | P>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1569189 CA4882838 rs773694618 |
87 | G>E | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4882840 rs765016841 |
88 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4882839 rs137999469 |
88 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA186325974 rs969669521 |
89 | P>L | No |
ClinGen Ensembl |
|
|
CA4882841 rs752351814 |
89 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 90 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1313276149 COSM1551779 CA372246385 |
92 | C>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA4882842 rs762568611 |
92 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372246381 rs1313276149 |
92 | C>Y | No |
ClinGen gnomAD |
|
|
rs755914863 CA4882867 |
95 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs564577099 CA4882868 |
96 | C>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1194583771 CA372246469 |
99 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs531772882 CA372246493 |
101 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4882869 rs531772882 |
101 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 101 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755138375 CA4882870 |
102 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA372246524 rs1172051123 |
103 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA372246529 rs1179445338 |
103 | I>N | No |
ClinGen gnomAD |
|
|
CA372246547 rs1486009477 |
104 | L>S | No |
ClinGen TOPMed |
|
|
CA372246568 rs779095195 |
106 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs779095195 CA4882871 |
106 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA4882872 rs748211829 |
108 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs778441355 CA4882874 |
109 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA4882875 rs747456386 |
110 | N>K | No |
ClinGen ExAC |
|
|
rs771491374 CA4882876 |
111 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771491374 CA372246631 |
111 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1344632057 CA372246652 |
113 | D>N | No |
ClinGen TOPMed |
|
|
CA4882877 rs777124409 |
115 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372246690 rs1328984996 |
116 | Y>C | No |
ClinGen gnomAD |
|
|
CA372246748 rs1434561844 |
121 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs749020016 CA4882880 |
124 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 125 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4882884 rs200217990 COSM204367 |
127 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4882887 rs766218244 |
128 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4882886 rs760598558 |
128 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4882889 rs115677932 |
129 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1247322799 CA372246877 |
131 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1455545639 CA372246883 |
132 | D>A | No |
ClinGen gnomAD |
|
|
CA372246886 rs148669259 |
132 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758415458 CA4882892 |
133 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs758415458 CA186327275 |
133 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1420140253 CA372246894 |
134 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
COSM378551 rs1160217865 CA372246899 |
134 | Q>H | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 135 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_010212 rs2069546 CA186327282 |
135 | Q>H | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs777999068 CA4882893 |
136 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252171484 CA372246917 |
137 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 138 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 138 | C>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4882895 rs141306917 |
139 | W>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4882894 rs752171962 |
139 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291789635 CA372246938 |
140 | C>Y | No |
ClinGen TOPMed |
|
|
CA372246957 rs781719230 |
143 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4882898 rs781719230 |
143 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767319077 CA186327340 |
145 | G>R | No |
ClinGen Ensembl |
|
|
rs1443752235 CA372246976 |
146 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 147 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372246998 rs1587167788 |
148 | V>G | No |
ClinGen Ensembl |
|
|
CA372246993 rs1365215825 |
148 | V>M | No |
ClinGen gnomAD |
|
|
CA4882900 rs770146143 |
149 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs747768707 CA4882902 |
151 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA4882905 rs558045141 |
153 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4882907 COSM1674185 rs776586121 |
155 | G>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4882906 rs139460070 |
155 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1563887596 CA372247044 |
157 | P>T | No |
ClinGen Ensembl |
|
|
rs751049019 COSM264017 CA186327412 |
159 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
RCV000523933 rs775401701 CA4882932 |
160 | C>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA4882933 rs761996143 |
163 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA372247140 rs1278276582 |
165 | E>* | No |
ClinGen TOPMed |
|
| TCGA novel | 168 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4882935 rs143578780 |
169 | R>C | Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs756627185 CA4882936 |
169 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4882937 rs114349877 |
170 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4882939 rs115793379 |
170 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4882938 rs115793379 |
170 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372247179 rs1328658016 |
171 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs146797579 CA4882940 |
172 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370188499 CA4882943 CA4882942 |
174 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs769741081 CA4882945 |
175 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA372247200 CA186328545 rs745843270 |
175 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745843270 CA4882944 |
175 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372247214 rs1587177945 |
177 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 177 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4882947 rs749118989 |
180 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372247231 rs749118989 |
180 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs115145937 CA4882949 RCV000913353 |
181 | P>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4882948 rs145311686 |
181 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372247276 rs1232081516 |
185 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4882952 rs773315457 |
186 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1174684975 CA372247285 |
186 | E>K | No |
ClinGen gnomAD |
|
|
CA186328577 rs773315457 |
186 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1297888870 CA372247317 |
187 | G>E | No |
ClinGen gnomAD |
|
|
CA4882953 rs761122665 |
188 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761122665 CA372247330 |
188 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766937647 CA4882954 |
189 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs766937647 CA372247347 |
189 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4882955 rs147955441 |
190 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4882956 rs755344172 |
191 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs375719895 CA186328611 |
195 | K>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs375719895 CA372247457 |
195 | K>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4882959 rs756916092 |
198 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs780608636 CA4882960 |
199 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1047910540 CA186328642 |
201 | D>H | No |
ClinGen TOPMed |
|
|
CA4882961 rs745415156 |
203 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs887966457 CA186328644 |
206 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs370350049 CA4882963 |
208 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372247666 rs1158391248 |
208 | V>L | No |
ClinGen gnomAD |
|
|
CA4882964 rs187737243 |
212 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1438991997 CA372226613 |
216 | D>G | No |
ClinGen TOPMed |
|
|
rs1380376287 CA372226670 |
219 | V>G | No |
ClinGen gnomAD |
|
|
CA372226716 rs1233821394 |
222 | S>G | No |
ClinGen gnomAD |
|
|
CA372226715 rs1233821394 |
222 | S>R | No |
ClinGen gnomAD |
|
|
rs1043963042 CA186282112 |
223 | S>F | No |
ClinGen TOPMed |
|
|
rs1481861961 CA372226753 |
224 | F>L | No |
ClinGen gnomAD |
|
|
rs747195779 CA4882986 |
224 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1341037250 CA372226815 |
226 | R>W | No |
ClinGen gnomAD |
|
|
CA4882987 rs373314256 |
227 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4882989 rs760079469 |
229 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs199566100 CA4882990 |
230 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763391906 CA4882992 |
231 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4882991 rs775927514 |
231 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1445602697 CA372226920 |
232 | S>C | No |
ClinGen gnomAD |
|
|
rs979139864 CA186282123 |
234 | Y>C | No |
ClinGen Ensembl |
|
|
rs1035049373 CA186282125 |
235 | C>R | No |
ClinGen TOPMed |
|
|
CA186282127 rs896546844 |
236 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA372227004 rs1302009543 |
236 | H>Y | No |
ClinGen gnomAD |
|
|
rs769816089 CA186282129 |
238 | A>T | No |
ClinGen gnomAD |
|
|
rs1563901328 CA372227065 |
239 | D>E | No |
ClinGen Ensembl |
|
|
rs1416187965 CA372227069 |
240 | S>G | No |
ClinGen gnomAD |
|
|
CA372227071 rs1275772118 |
240 | S>N | No |
ClinGen gnomAD |
|
|
rs764300260 CA4882993 |
241 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA4882994 rs750156538 |
242 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs114196514 CA4882996 |
243 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4882995 rs565270285 |
243 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1208505547 CA372227181 |
247 | E>D | No |
ClinGen gnomAD |
|
|
CA4882997 rs141899545 |
248 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4883007 rs745970489 |
250 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA186282232 rs765026795 |
251 | E>Q | No |
ClinGen Ensembl |
|
|
rs1204964703 CA372227315 |
253 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA372227318 rs191424204 |
254 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs963154293 CA186282236 |
256 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA186282238 rs986713045 |
257 | I>F | No |
ClinGen TOPMed |
|
|
rs371193024 CA4883010 |
258 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1284208730 CA372227383 |
259 | D>Y | No |
ClinGen gnomAD |
|
|
rs774556616 CA4883012 |
264 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs760415056 CA4883013 |
269 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4883015 rs776369991 |
276 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs759128374 CA4883016 |
277 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 277 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4883018 rs752741367 |
278 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373005597 CA4883017 |
278 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4883020 rs763994116 |
279 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1347547998 CA372227581 |
280 | L>V | No |
ClinGen gnomAD |
|
|
rs1192342580 CA372227629 |
287 | V>G | No |
ClinGen TOPMed |
|
|
rs746023979 CA4883024 |
289 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA372227642 rs746023979 |
289 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA4883025 rs756255826 |
291 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4883026 rs779983115 |
293 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs749848558 CA4883028 |
295 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749848558 CA4883027 |
295 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868317051 CA186282266 |
296 | R>Q | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA372227701 rs1197795296 |
298 | P>T | No |
ClinGen TOPMed |
|
|
rs376206629 CA4883050 |
299 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA186282334 rs61733833 |
299 | T>P | No |
ClinGen Ensembl |
|
|
rs1392385049 CA372227717 |
300 | K>N | No |
ClinGen gnomAD |
|
|
CA372227739 rs1338948767 |
303 | V>A | No |
ClinGen gnomAD |
|
|
rs1293990748 CA372227752 |
305 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA372227750 rs1293990748 |
305 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs367625126 CA4883053 |
305 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1199244520 CA372227767 |
308 | A>T | No |
ClinGen TOPMed |
|
|
CA4883055 rs544510348 |
310 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1021326095 CA186282358 |
310 | S>N | No |
ClinGen TOPMed |
|
|
rs1563902956 CA372227806 |
311 | F>I | No |
ClinGen Ensembl |
|
|
rs762383833 CA4883056 |
312 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA4883057 rs370413523 |
313 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370413523 CA372227833 |
313 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761727000 CA4883059 |
314 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs767347235 CA4883060 |
315 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883062 rs760420912 |
316 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4883063 rs766532182 |
318 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1462902041 CA372227921 |
319 | C>R | No |
ClinGen gnomAD |
|
|
CA4883067 rs755014012 |
320 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883068 rs779043995 |
321 | R>* | No |
ClinGen ExAC |
|
|
rs753308520 CA4883070 |
321 | R>P | No |
ClinGen ExAC gnomAD |
|
|
COSM3834078 CA4883069 rs753308520 |
321 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA372228025 rs1357585524 |
323 | G>D | No |
ClinGen gnomAD |
|
|
rs1398276252 CA372228062 |
324 | D>E | No |
ClinGen gnomAD |
|
|
CA372228034 rs781559901 |
324 | D>N | No |
ClinGen gnomAD |
|
|
rs781559901 CA186282384 |
324 | D>Y | No |
ClinGen gnomAD |
|
|
rs200812287 CA4883071 |
325 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs149297140 CA4883074 |
327 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4883072 rs747404900 |
327 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs149297140 CA4883073 COSM1096277 |
327 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 328 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4883077 rs773826800 |
328 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs1282078917 CA372228210 |
331 | Q>* | No |
ClinGen gnomAD |
|
|
CA372228226 rs1209350166 |
332 | T>A | No |
ClinGen gnomAD |
|
|
CA4883080 rs368205742 |
332 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372228246 rs1483412433 |
333 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA372228251 rs1429634337 |
333 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 334 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766127668 CA4883082 |
336 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1184491025 CA372228332 |
337 | W>C | No |
ClinGen gnomAD |
|
| TCGA novel | 340 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1377538916 CA372228452 |
341 | A>D | No |
ClinGen gnomAD |
|
|
CA4883084 rs759789389 RCV000895860 |
341 | A>P | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs759789389 CA186282426 |
341 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4883086 rs752858935 |
342 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 342 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372228464 rs765451285 |
342 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883085 rs765451285 |
342 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385670566 CA372228471 |
343 | G>R | No |
ClinGen gnomAD |
|
|
rs925505839 CA186282447 |
344 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 345 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA186282450 rs1049761427 |
345 | E>K | No |
ClinGen TOPMed |
|
|
CA186282453 rs936941525 |
346 | M>I | No |
ClinGen Ensembl |
|
|
rs778441790 CA4883089 |
346 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778441790 CA372228518 |
346 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 347 | H>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1234800456 CA372228528 |
347 | H>D | No |
ClinGen gnomAD |
|
|
CA4883090 rs200412611 |
347 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372228544 rs1237798930 |
348 | G>A | No |
ClinGen gnomAD |
|
|
CA372228538 rs1351081612 |
348 | G>R | No |
ClinGen gnomAD |
|
|
rs1587229476 CA372228549 |
349 | T>P | No |
ClinGen Ensembl |
|
|
rs757630170 CA372228561 |
350 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757630170 CA186282458 |
350 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748943790 CA372228577 |
351 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748943790 CA4883093 |
351 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1158091610 CA372228599 |
352 | Q>* | No |
ClinGen TOPMed |
|
|
rs527800188 CA4883094 |
352 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1171668408 CA372228613 |
353 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM3703363 CA372228644 rs1468400777 |
355 | P>L | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1397206353 CA372228655 |
356 | P>L | No |
ClinGen gnomAD |
|
|
rs1010610771 CA186282468 |
357 | S>F | No |
ClinGen TOPMed |
|
|
rs891695164 CA186282466 |
357 | S>P | No |
ClinGen TOPMed |
|
|
rs769649951 CA372228975 |
361 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769649951 CA4883121 |
361 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1234577305 CA372228995 |
364 | C>F | No |
ClinGen gnomAD |
|
|
rs146293727 RCV000760812 CA372229011 |
367 | E>* | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs146293727 CA4883124 |
367 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146293727 CA372229010 |
367 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4883125 rs774460524 |
368 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs761756429 CA4883126 |
372 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139531784 CA186283723 |
374 | R>S | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA186283726 rs773657271 |
375 | L>H | No |
ClinGen gnomAD |
|
|
CA372229066 rs773657271 |
375 | L>P | No |
ClinGen gnomAD |
|
|
CA372229082 rs1417337721 |
377 | F>L | No |
ClinGen gnomAD |
|
|
CA4883127 rs768088648 |
377 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1156950429 CA372229085 |
378 | G>W | No |
ClinGen TOPMed |
|
|
CA4883128 rs567662997 |
379 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1353375571 CA4883130 |
381 | G>D | No |
ClinGen TOPMed |
|
|
rs1249701351 CA372229105 |
381 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs766725784 CA4883132 |
383 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs553100709 CA372229140 |
383 | F>L | No |
ClinGen 1000Genomes |
|
|
rs866406972 CA186283746 |
387 | D>G | No |
ClinGen Ensembl |
|
|
rs372915472 CA4883138 |
387 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs756665599 CA372229249 |
390 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756665599 CA4883139 |
390 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA186283750 rs142849486 |
391 | S>F | No |
ClinGen ESP gnomAD |
|
|
rs781194412 CA4883140 |
392 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372229281 rs1587246546 |
392 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 392 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372229299 rs1486099749 |
393 | E>A | No |
ClinGen gnomAD |
|
|
rs1212368589 CA372229352 |
395 | R>I | No |
ClinGen gnomAD |
|
|
rs1240374741 CA372229360 |
396 | W>R | No |
ClinGen gnomAD |
|
|
CA186283755 rs969032703 |
397 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA372229393 rs1421550290 |
398 | S>F | No |
ClinGen gnomAD |
|
|
rs1269808386 CA372229390 |
398 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 398 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1365960396 CA372229402 |
399 | P>L | No |
ClinGen TOPMed |
|
|
CA4883142 rs769773530 |
399 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372229406 rs1375711296 |
400 | R>* | No |
ClinGen gnomAD |
|
|
CA4883144 rs749564441 |
400 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1315626597 CA372229422 |
401 | V>E | No |
ClinGen gnomAD |
|
|
rs373267875 CA4883145 |
402 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA372229476 rs1287759338 |
405 | A>V | No |
ClinGen Ensembl |
|
|
rs1232597692 CA372229551 |
410 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA372229548 rs1232597692 |
410 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4883146 rs774383954 |
410 | P>T | No |
ClinGen ExAC gnomAD |
|
|
COSM3432139 CA4883148 rs762257905 |
411 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4883147 rs761962363 |
411 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1388475005 CA372229579 |
412 | I>T | No |
ClinGen TOPMed |
|
|
CA372229681 rs1191555796 |
418 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 419 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372229707 rs1458946678 |
420 | G>R | No |
ClinGen TOPMed |
|
|
rs923808214 CA186283802 |
421 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs201039438 CA4883149 |
423 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4883150 COSM204368 rs761156549 |
423 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs761156549 CA372229752 COSM384144 |
423 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA372229766 rs1455309684 |
424 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4883152 rs754169402 |
424 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1406762503 CA372229776 |
425 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4883153 rs759846480 |
425 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1246191057 CA372229792 |
427 | E>K | No |
ClinGen TOPMed |
|
|
CA4883155 rs751106684 |
430 | S>N | No |
ClinGen ExAC TOPMed |
|
|
rs1254856943 CA372229892 |
432 | Q>* | No |
ClinGen TOPMed |
|
|
rs1230649071 CA372229896 |
432 | Q>R | No |
ClinGen TOPMed |
|
|
rs780557759 CA4883157 |
433 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372229936 rs1372271336 |
435 | V>A | No |
ClinGen gnomAD |
|
|
CA372229961 rs1278054295 |
437 | E>V | No |
ClinGen gnomAD |
|
| TCGA novel | 438 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372230010 rs1392487524 |
441 | K>E | No |
ClinGen gnomAD |
|
|
CA4883160 rs756092932 |
442 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4883162 rs749114918 |
443 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253544839 CA372230059 |
444 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs115514040 CA4883163 |
444 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1007558007 CA186283840 |
445 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA372230105 rs1470279699 |
447 | I>T | No |
ClinGen gnomAD |
|
|
CA4883166 rs772251475 |
449 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372230149 rs772251475 |
449 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1700661 rs1587247613 CA372230143 |
449 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA372230155 rs1460459639 |
450 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 450 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773142559 CA4883168 |
451 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771452968 CA4883170 |
451 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771452968 CA4883171 |
451 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1407481797 CA372230190 |
452 | G>E | No |
ClinGen gnomAD |
|
|
rs1407481797 CA372230194 |
452 | G>V | No |
ClinGen gnomAD |
|
|
CA4883172 rs759899440 |
454 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs765515442 CA4883173 COSM382559 |
455 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4883175 rs61741644 |
455 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767097110 CA4883176 |
457 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1256292616 CA372230265 |
458 | L>H | No |
ClinGen TOPMed |
|
|
rs1563909284 CA372230290 |
460 | F>I | No |
ClinGen Ensembl |
|
|
rs755633747 CA4883178 |
461 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1267422900 CA372230327 |
462 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA186283862 rs145681459 |
463 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753758627 CA4883180 |
466 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA372230389 rs1211535762 |
466 | R>K | No |
ClinGen gnomAD |
|
|
CA4883181 COSM454051 rs754864646 |
467 | L>V | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA186283871 rs187859779 |
469 | Q>H | No |
ClinGen 1000Genomes |
|
|
rs1032355149 CA186283869 |
469 | Q>K | No |
ClinGen Ensembl |
|
|
rs748450118 CA4883183 |
472 | F>S | No |
ClinGen ExAC |
|
| TCGA novel | 474 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1188188937 CA372230520 |
476 | F>Y | No |
ClinGen gnomAD |
|
|
rs777930389 CA4883185 |
477 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1029025832 CA186283887 |
479 | N>H | No |
ClinGen TOPMed |
|
|
rs954955140 CA186283890 |
480 | V>A | No |
ClinGen TOPMed |
|
|
rs1166533435 CA372230545 |
480 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1166533435 CA372230544 |
480 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1396144599 CA372230553 |
481 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 482 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4883188 rs777190518 |
484 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368508965 CA372230604 |
489 | L>F | No |
ClinGen TOPMed |
|
|
rs746361534 CA4883189 |
491 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4883190 rs770248021 |
492 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA4883191 rs775691174 |
493 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767101433 CA4883193 |
494 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs114720115 CA372230630 |
494 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4883192 rs114720115 |
494 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4883194 rs772939664 |
496 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1207003729 CA372230671 |
497 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 498 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4883196 rs765980140 |
502 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 503 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372230771 rs1587248390 |
505 | G>S | No |
ClinGen Ensembl |
|
|
rs372589630 CA186283913 |
507 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1191755464 CA372230811 |
508 | S>I | No |
ClinGen gnomAD |
|
|
rs956503916 CA186283916 |
509 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 511 | N>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372230867 COSM1569188 rs1425080150 |
512 | G>A | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 515 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1036922021 CA186283919 |
517 | D>E | No |
ClinGen Ensembl |
|
|
rs777977504 CA4883202 |
517 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs747227863 CA4883203 |
518 | L>W | No |
ClinGen ExAC |
|
|
rs746430574 CA4883206 |
520 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs528498414 CA4883207 |
521 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4883208 rs776018124 |
522 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA372231036 rs1484640950 |
527 | D>A | No |
ClinGen gnomAD |
|
|
rs1563909870 COSM1096282 CA372231030 |
527 | D>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs760386781 CA4883212 |
528 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA372231048 rs1340476743 |
528 | S>P | No |
ClinGen TOPMed |
|
|
CA4883214 rs776248623 |
534 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776248623 CA372231126 |
534 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372231123 rs1465705619 |
534 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4883215 rs759045504 |
535 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs759045504 CA186283949 |
535 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1454102101 CA372231176 |
537 | A>D | No |
ClinGen gnomAD |
|
|
CA915948721 rs1587248925 RCV000999073 |
537 | A>G* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA4883216 rs765107480 |
539 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 539 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752614846 CA4883217 |
540 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA4883218 rs762724774 |
541 | D>G | No |
ClinGen ExAC TOPMed |
|
|
rs889632408 CA186283952 |
541 | D>N | No |
ClinGen Ensembl |
|
|
CA186283957 rs763864684 |
543 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883221 rs538771008 |
544 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4883220 rs751829684 |
544 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA4883222 rs145429573 |
545 | N>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4883223 rs750493958 |
548 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs756163251 CA372231409 |
548 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs756163251 CA4883224 |
548 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA372231412 rs1387124631 |
549 | V>M | No |
ClinGen gnomAD |
|
|
rs780426823 CA4883225 |
550 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749795370 CA4883226 |
551 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA186283987 rs865968567 |
552 | F>L | No |
ClinGen Ensembl |
|
|
rs1260743211 CA372231482 |
553 | G>C | No |
ClinGen gnomAD |
|
|
rs769197454 CA4883227 |
553 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA372231536 rs1396636806 |
554 | F>L | No |
ClinGen gnomAD |
|
|
rs138049823 CA4883228 |
556 | I>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1310072154 CA372231568 |
557 | N>D | No |
ClinGen TOPMed |
|
|
rs1271807971 CA372231588 |
558 | L>P | No |
ClinGen gnomAD |
|
|
CA4883229 rs746697941 |
559 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1022148195 CA372231616 |
561 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs770739054 CA372231618 |
562 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs770739054 CA4883230 |
562 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs776296003 CA4883231 |
564 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458885155 CA372231658 |
567 | F>L | No |
ClinGen gnomAD |
|
|
CA372231653 rs1412717707 |
567 | F>V | No |
ClinGen gnomAD |
|
|
CA372231667 rs1368568969 |
569 | A>S | No |
ClinGen TOPMed |
|
|
CA186284001 rs940844676 |
571 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA372231680 rs1393613539 |
571 | L>P | No |
ClinGen gnomAD |
|
|
CA372231685 rs1458258064 |
572 | L>P | No |
ClinGen gnomAD |
|
|
CA372231690 rs1295020115 |
573 | E>G | No |
ClinGen gnomAD |
|
|
rs1370743270 CA372231704 |
575 | P>L | No |
ClinGen gnomAD |
|
|
rs769343817 CA4883233 |
579 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
| TCGA novel | 580 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775348068 CA4883234 |
583 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 584 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230898948 CA372231771 |
585 | I>V | No |
ClinGen gnomAD |
|
|
CA4883235 rs762856516 |
587 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs751391741 CA4883237 |
589 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1031907068 CA186284014 |
591 | V>M | No |
ClinGen Ensembl |
|
|
rs142629621 CA4883239 |
592 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA372231829 rs1252797300 |
594 | D>G | No |
ClinGen gnomAD |
|
|
rs1587249730 CA372231834 |
595 | L>V | No |
ClinGen Ensembl |
|
|
CA372231841 rs1254443365 |
596 | G>S | No |
ClinGen Ensembl |
|
|
CA372231845 rs1473642818 |
596 | G>V | No |
ClinGen gnomAD |
|
|
CA372231851 rs1208616846 |
597 | D>G | No |
ClinGen TOPMed |
|
|
rs1185859579 CA372231854 |
598 | V>M | No |
ClinGen gnomAD |
|
|
rs1417120648 CA372231860 |
599 | M>V | No |
ClinGen gnomAD |
|
|
CA372231890 rs1461282932 |
603 | L>V | No |
ClinGen gnomAD |
|
|
rs2069547 VAR_016852 CA186284028 |
604 | S>D | requires 2 nucleotide substitutions [UniProt] | No |
ClinGen UniProt Ensembl dbSNP |
|
CA186284031 rs1029660394 |
606 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA4883243 rs536053171 |
607 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA186284038 rs983810681 |
613 | E>* | No |
ClinGen Ensembl |
|
|
rs1321292169 CA372231964 |
613 | E>D | No |
ClinGen TOPMed |
|
|
rs751739518 CA186284044 |
614 | R>K | No |
ClinGen Ensembl |
|
|
CA4883250 rs780106601 |
616 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769237765 CA186284052 |
618 | P>A | No |
ClinGen ExAC |
|
|
rs769237765 CA4883251 |
618 | P>T | No |
ClinGen ExAC |
|
|
CA372232020 rs1587250268 |
619 | S>T | No |
ClinGen Ensembl |
|
|
CA4883253 rs149681938 |
620 | C>R | No |
ClinGen 1000Genomes ExAC |
|
|
rs144254329 CA4883256 |
621 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767336126 CA4883258 |
622 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372232047 rs1254253824 |
623 | E>G | No |
ClinGen TOPMed |
|
|
CA372232062 rs773361770 |
625 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760924981 CA4883261 |
628 | D>G | No |
ClinGen ExAC |
|
|
CA186284071 rs754807140 |
628 | D>Y | No |
ClinGen Ensembl |
|
|
CA4883263 rs753981636 |
629 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA372232088 rs1463637960 |
629 | V>I | No |
ClinGen TOPMed |
|
|
CA186284082 rs2228590 |
630 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1344496823 CA372232125 |
632 | F>Y | No |
ClinGen TOPMed |
|
|
CA372232146 rs116417639 |
634 | G>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372232158 rs1587250599 |
635 | E>A | No |
ClinGen Ensembl |
|
|
COSM326658 rs145612902 CA4883267 |
636 | C>F | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
COSM258811 rs745548824 CA4883269 |
637 | W>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4883268 rs778179419 |
637 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1298734604 CA372232201 |
639 | V>M | No |
ClinGen gnomAD |
|
|
CA372232217 rs755826566 |
640 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883270 rs755826566 |
640 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755826566 CA372232215 |
640 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413570461 CA372232224 |
641 | S>P | No |
ClinGen TOPMed |
|
|
rs1232452218 CA372232242 |
642 | W>* | No |
ClinGen gnomAD |
|
|
rs1312897009 CA372232251 |
643 | G>D | No |
ClinGen gnomAD |
|
|
rs1278168509 CA372232247 |
643 | G>S | No |
ClinGen gnomAD |
|
|
CA4883271 rs1554657542 |
649 | S>L | No |
ClinGen Ensembl |
|
|
rs779528808 CA4883273 |
650 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883275 rs747820218 |
651 | V>A | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 651 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4883274 rs778387526 |
651 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396046502 CA372232340 |
652 | R>G | No |
ClinGen TOPMed |
|
|
rs748062103 CA4883277 |
654 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA4883280 rs760346508 |
656 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs73347488 CA186284097 |
657 | R>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| TCGA novel | 666 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372232531 rs1156264365 |
667 | A>V | No |
ClinGen gnomAD |
|
|
rs776934047 CA4883282 |
668 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776934047 CA372232534 |
668 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883283 rs759691560 |
668 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372232537 rs759691560 |
668 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765396579 CA4883284 |
669 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA372232548 rs765396579 |
669 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA4883285 rs753308331 |
670 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753308331 CA372232559 |
670 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA186284104 rs1005703596 |
670 | Q>R | No |
ClinGen Ensembl |
|
|
rs1308479098 CA372232572 |
671 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs758907619 CA4883286 |
672 | L>P | No |
ClinGen ExAC |
|
|
rs764469728 CA372232591 |
673 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140030169 CA372232597 |
673 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764469728 CA4883287 |
673 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757510967 CA4883289 |
674 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372232616 rs757510967 |
674 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883291 rs371722501 |
675 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1434898610 CA372232652 |
677 | P>A | No |
ClinGen TOPMed |
|
|
CA4883292 rs754538003 |
677 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 678 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs528778595 CA186284113 |
678 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs528778595 CA4883293 |
678 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs184474552 COSM1551773 CA4883294 |
679 | G>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1467010676 CA372232724 |
681 | T>I | No |
ClinGen gnomAD |
|
|
rs1246959281 CA372232802 |
684 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1352599750 CA372232821 |
685 | P>S | No |
ClinGen gnomAD |
|
|
CA372232839 rs1235762040 |
686 | A>P | No |
ClinGen TOPMed |
|
|
rs1189921950 CA372232852 |
686 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs772973081 CA4883296 |
688 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 689 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1406692879 CA372232941 |
689 | S>N | No |
ClinGen gnomAD |
|
|
CA4883298 rs770564295 |
691 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA372233025 rs1587251527 |
692 | H>L | No |
ClinGen Ensembl |
|
|
CA372233071 rs1587251542 |
693 | F>S | No |
ClinGen Ensembl |
|
|
CA372233128 rs1323245562 |
695 | P>L | No |
ClinGen gnomAD |
|
|
CA4883303 rs114718940 |
696 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775743219 CA4883302 |
696 | V>I | No |
ClinGen ExAC |
|
|
rs551099486 CA4883305 |
698 | C>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1273679670 CA372233276 |
700 | N>H | No |
ClinGen TOPMed |
|
|
CA4883306 rs762307517 |
701 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs753535476 CA4883308 |
702 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs767852483 CA4883307 |
702 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754589271 CA4883309 |
703 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA372233388 rs1250584197 |
704 | Y>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 705 | C>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 706 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472655637 CA372233502 |
707 | D>G | No |
ClinGen gnomAD |
|
|
CA186284139 rs955043855 |
708 | A>V | No |
ClinGen Ensembl |
|
|
rs1282455611 CA372233538 |
709 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 709 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372233578 rs1183659265 |
710 | G>D | No |
ClinGen gnomAD |
|
|
CA4883310 rs778493270 |
711 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA4883312 rs145475805 |
713 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777769462 CA4883313 |
715 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA4883314 rs746915736 |
715 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs573918155 CA186284146 |
717 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs573918155 CA4883315 |
717 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883317 rs200611812 |
717 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 719 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4883320 rs374424570 |
720 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372233770 rs1171785836 |
721 | G>E | No |
ClinGen TOPMed |
|
|
rs1358260635 CA372233760 |
721 | G>R | No |
ClinGen gnomAD |
|
|
CA372233785 rs1212554196 |
722 | K>R | No |
ClinGen gnomAD |
|
|
CA4883321 rs768618545 |
723 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 724 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA186284276 rs867035708 |
727 | P>L | No |
ClinGen gnomAD |
|
|
rs766725910 CA4883344 |
728 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA372233961 rs116468671 |
728 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4883345 rs116468671 |
728 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372233956 rs766725910 |
728 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1376099581 CA372233982 |
730 | C>S | No |
ClinGen gnomAD |
|
|
CA372234801 rs1465634897 |
730 | C>S | No |
ClinGen gnomAD |
|
|
CA4883347 rs763762279 |
733 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4883348 rs180223 |
734 | S>P | Autoimmune thyroid disease, susceptibility to, 3 (aitd3) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4883349 rs180223 |
734 | S>T | Autoimmune thyroid disease, susceptibility to, 3 (aitd3) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4883351 rs756034911 |
735 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4883350 rs750383330 |
735 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377074215 CA372234874 |
736 | Q>H | No |
ClinGen TOPMed |
|
|
CA4883354 rs116811188 |
741 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772072270 CA4883358 |
742 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883357 rs772072270 |
742 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145363255 CA186284308 |
742 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145363255 CA4883356 |
742 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1268028256 CA372234913 |
743 | Q>P | No |
ClinGen gnomAD |
|
|
rs1465661652 CA372234926 |
745 | L>Q | No |
ClinGen gnomAD |
|
|
rs1254808517 CA372234931 |
746 | L>V | No |
ClinGen TOPMed |
|
|
rs747501859 CA4883359 |
747 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372234944 rs1305492574 |
748 | N>S | No |
ClinGen gnomAD |
|
|
rs753843881 CA186284320 |
749 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753843881 CA4883362 |
749 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146474584 CA4883361 |
749 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1274747761 CA372234964 |
751 | M>I | No |
ClinGen gnomAD |
|
|
CA186284328 rs369797332 |
751 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372234961 rs1250167751 |
751 | M>T | No |
ClinGen TOPMed |
|
|
CA4883363 rs369797332 |
751 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372234966 rs562863121 |
752 | L>I | No |
ClinGen 1000Genomes gnomAD |
|
|
CA4883364 rs773987957 |
753 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1389253443 CA372234977 |
754 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 754 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4883365 rs373477042 |
756 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372235009 rs750438327 |
757 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883367 rs750438327 |
757 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883368 rs756084634 |
758 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs184309049 CA4883370 |
761 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs184309049 CA372235057 |
761 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs944864204 CA186284356 |
762 | Q>P | No |
ClinGen TOPMed |
|
|
rs1488993992 CA372235125 |
765 | T>I | No |
ClinGen gnomAD |
|
|
rs1368447613 CA372235118 |
765 | T>P | No |
ClinGen TOPMed |
|
|
rs758531003 CA4883374 |
766 | D>G | No |
ClinGen ExAC gnomAD |
|
|
COSM364807 rs1330366991 CA372235131 |
766 | D>N | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1488354731 CA372235186 |
770 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs778743706 CA4883377 |
771 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778743706 CA4883378 |
771 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372235219 rs1471675756 |
773 | Q>E | No |
ClinGen gnomAD |
|
|
rs1412654193 CA372235249 |
775 | N>S | No |
ClinGen gnomAD |
|
|
CA372235248 rs1412654193 |
775 | N>T | No |
ClinGen gnomAD |
|
|
rs770193123 CA4883380 |
776 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs533964411 CA4883383 |
779 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772876046 CA4883384 |
780 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1408712028 CA372235340 |
781 | V>A | No |
ClinGen gnomAD |
|
|
rs760209334 CA372235336 |
781 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs760209334 CA4883385 |
781 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs12543299 CA186284392 |
783 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 783 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs12543299 CA4883387 |
783 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs759314482 CA4883388 |
784 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA372235423 rs1311188670 |
786 | Q>K | No |
ClinGen gnomAD |
|
|
rs780062466 CA4883391 |
787 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372235466 rs1294192732 |
788 | W>R | No |
ClinGen TOPMed |
|
|
CA4883392 rs777924349 |
790 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751652101 CA4883393 |
792 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1484075032 CA372235568 |
793 | K>E | No |
ClinGen gnomAD |
|
|
CA372235615 rs1180105954 |
794 | G>V | No |
ClinGen gnomAD |
|
|
rs1255359464 CA372235619 |
795 | Q>* | No |
ClinGen gnomAD |
|
|
rs1255359464 CA372235630 |
795 | Q>E | No |
ClinGen gnomAD |
|
|
CA372235664 rs1424208101 |
796 | D>H | No |
ClinGen gnomAD |
|
|
CA372235670 rs1166586469 |
796 | D>V | No |
ClinGen gnomAD |
|
|
CA4883395 rs552553018 |
797 | L>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4883396 rs570738847 |
798 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372235713 rs1445139244 |
799 | P>S | No |
ClinGen gnomAD |
|
|
CA372235763 rs1391910312 |
802 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs770108535 CA4883397 |
803 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 803 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780538684 CA4883398 |
804 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA372235816 rs1233477967 |
806 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4883401 rs771869543 |
807 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771869543 CA4883400 |
807 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372235863 rs1275607356 |
809 | Y>H | No |
ClinGen gnomAD |
|
|
CA4883402 rs760105184 |
811 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs770468970 CA4883403 |
812 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA16042706 RCV000412820 rs16904774 |
815 | G>* | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA372235992 rs1563913177 |
815 | G>V | No |
ClinGen Ensembl |
|
|
CA372236010 rs1183384375 |
816 | N>K | No |
ClinGen gnomAD |
|
|
CA4883406 rs764980667 |
818 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1448626153 CA372236041 |
818 | S>R | No |
ClinGen gnomAD |
|
|
rs752511152 CA4883407 |
819 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 821 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 821 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs555902505 CA186284452 |
821 | I>T | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 821 | I>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762678896 CA4883408 |
822 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA372236119 rs1466947390 |
823 | S>R | No |
ClinGen gnomAD |
|
|
CA4883409 rs574349744 |
824 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1362425050 CA372236162 |
825 | Y>C | No |
ClinGen TOPMed |
|
|
CA4883411 rs757341498 |
827 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 829 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372236265 rs1184350815 |
830 | Q>H | No |
ClinGen TOPMed |
|
|
CA4883414 rs150186664 |
831 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 831 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4883415 rs780655110 |
832 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4883417 rs755324792 |
834 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469895800 CA372236323 |
835 | V>E | No |
ClinGen TOPMed |
|
|
rs776175241 CA4883421 |
840 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA186284497 rs1006607280 |
844 | D>G | No |
ClinGen Ensembl |
|
|
CA4883425 rs577479740 |
845 | V>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4883424 rs577479740 |
845 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA186284500 rs115070736 |
845 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed |
|
CA4883427 rs774488860 |
848 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs114900396 CA4883428 |
850 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs114319441 CA4883429 |
851 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1239585030 CA372236542 |
852 | G>R | No |
ClinGen TOPMed |
|
|
rs530062705 CA186284508 |
853 | K>* | No |
ClinGen 1000Genomes |
|
|
CA186284515 rs186434712 |
856 | Q>H | No |
ClinGen 1000Genomes |
|
|
rs140030978 CA4883432 |
856 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4883433 rs754389924 |
857 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs527511755 RCV000977904 CA4883435 |
861 | I>V | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs966178196 CA186284522 |
864 | E>V | No |
ClinGen TOPMed |
|
|
CA372236793 rs1563913658 |
865 | P>R | No |
ClinGen Ensembl |
|
|
CA4883437 rs756965267 |
865 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883438 rs200020471 |
866 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372236811 rs1286008994 |
867 | L>F | No |
ClinGen gnomAD |
|
|
rs61742667 CA4883439 |
870 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4883440 rs775465749 |
871 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs749203798 CA4883441 |
873 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4883442 rs768482464 |
874 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA4883444 rs761470411 |
876 | L>F | No |
ClinGen ExAC gnomAD |
|
|
COSM1454955 rs761470411 CA372236972 |
876 | L>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA372236993 rs1160543732 |
878 | Q>K | No |
ClinGen gnomAD |
|
|
rs201893722 CA186284545 |
880 | P>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA372237030 rs1323186364 |
881 | G>R | No |
ClinGen gnomAD |
|
|
CA372237032 rs1323186364 |
881 | G>W | No |
ClinGen gnomAD |
|
|
rs1350644702 CA372237045 |
883 | Y>C | No |
ClinGen gnomAD |
|
|
CA372237054 rs1587256812 |
884 | S>L | No |
ClinGen Ensembl |
|
|
CA186284549 rs61742720 |
885 | D>N | No |
ClinGen Ensembl |
|
|
rs773236731 CA4883446 |
886 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 887 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372237075 rs1349803945 |
887 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA372237074 rs1349803945 |
887 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA372237102 rs1587256981 |
891 | A>V | No |
ClinGen Ensembl |
|
|
CA372237106 rs1281198204 |
892 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs766551531 CA4883448 |
893 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760901827 CA4883447 |
893 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA4883449 rs754443145 |
894 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA372237119 rs1290188935 |
894 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4883451 rs374707675 COSM204369 |
896 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4883452 rs753127748 |
898 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs780965146 CA4883454 |
899 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA4883455 rs750032865 |
901 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA372237173 rs1428091450 |
902 | D>G | No |
ClinGen TOPMed |
|
|
CA372237182 rs1166944055 |
903 | E>G | No |
ClinGen gnomAD |
|
|
CA4883457 rs779511036 |
904 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs927428140 CA186284577 |
904 | A>P | No |
ClinGen Ensembl |
|
|
rs1330863934 CA372237188 |
905 | G>S | No |
ClinGen gnomAD |
|
|
CA372237194 rs1338590316 |
906 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA372237197 rs1587257400 |
906 | Q>P | No |
ClinGen Ensembl |
|
| TCGA novel | 907 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs151134187 CA4883458 |
907 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs367667964 CA4883459 |
907 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs879557272 CA186284587 |
908 | L>P | No |
ClinGen Ensembl |
|
|
CA372237221 rs1172100998 |
910 | G>R | No |
ClinGen TOPMed |
|
|
rs778661544 CA4883460 |
911 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA372237236 rs771756292 |
912 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771756292 CA4883462 |
912 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883461 rs747975846 |
912 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773538206 CA372237238 |
913 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771174438 CA4883465 |
914 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs776881055 CA4883466 |
917 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187293194 CA372237270 |
918 | L>I | No |
ClinGen gnomAD |
|
|
CA372237279 rs1441988477 |
919 | P>L | No |
ClinGen TOPMed |
|
|
rs1036861607 CA186284620 |
919 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA186284625 rs898412217 |
920 | T>I | No |
ClinGen TOPMed |
|
|
rs776936031 CA4883496 |
922 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs776936031 CA4883495 |
922 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs771299525 CA4883494 |
922 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 923 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4883498 rs556216152 |
923 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4883497 rs556522511 COSM1674186 |
923 | G>R | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs200583950 CA4883500 |
924 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4883503 rs369675355 |
931 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4883502 rs369675355 |
931 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4883504 rs150472791 |
931 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4883505 rs150472791 |
931 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1321702766 CA372238667 |
932 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 933 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372238705 rs1357960977 |
935 | F>I | No |
ClinGen TOPMed |
|
|
CA4883508 rs752718741 |
936 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372238721 rs1431370026 |
936 | I>T | No |
ClinGen gnomAD |
|
|
CA186286654 rs752718741 |
936 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144017276 CA4883509 |
938 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1158331818 CA372238755 |
939 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 940 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746065022 CA4883514 |
946 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745900236 CA4883515 |
949 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs375996100 CA4883519 |
950 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375996100 CA4883518 |
950 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4883517 rs375996100 |
950 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4883516 rs769955755 |
950 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA186286688 rs896007569 |
951 | F>V | No |
ClinGen gnomAD |
|
|
rs774768273 CA4883520 |
952 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA186286690 rs1011211792 |
952 | P>S | No |
ClinGen TOPMed |
|
|
rs1022744909 CA186286713 |
954 | G>R | No |
ClinGen gnomAD |
|
|
CA4883522 rs767858769 |
955 | E>* | No |
ClinGen ExAC TOPMed |
|
|
rs61736740 CA186286719 |
955 | E>A | No |
ClinGen gnomAD |
|
|
rs61736740 CA372238904 |
955 | E>G | No |
ClinGen gnomAD |
|
|
rs767858769 CA186286716 |
955 | E>K | No |
ClinGen ExAC TOPMed |
|
|
CA372238902 rs767858769 |
955 | E>Q | No |
ClinGen ExAC TOPMed |
|
|
rs369152726 CA4883523 |
956 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4883525 rs759082697 |
956 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 959 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372238946 rs1181430730 |
959 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA4883527 rs757867797 |
961 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883528 rs764131708 |
961 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1563920747 CA372238982 |
962 | G>* | No |
ClinGen Ensembl |
|
|
rs148894907 CA4883530 |
962 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372238998 rs1424830864 |
963 | I>M | No |
ClinGen gnomAD |
|
|
CA372239008 rs1368215364 |
964 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA372239013 rs1208861379 |
965 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 966 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372239065 rs1587285172 |
969 | D>A | No |
ClinGen Ensembl |
|
|
CA4883531 rs191579812 |
970 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4883532 rs191579812 |
970 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372239085 rs376439881 |
971 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4883535 rs548419729 |
971 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4883534 rs376439881 |
971 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372239094 rs1382489496 |
972 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA372239091 rs1382489496 |
972 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA372239104 rs1247066902 |
973 | P>A | No |
ClinGen gnomAD |
|
|
CA4883537 rs774900848 |
974 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365322173 CA372239136 |
976 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs867392494 CA186286817 |
977 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs529218847 CA4883540 |
979 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372239166 rs143609789 |
979 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4883541 rs143609789 |
979 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs529218847 CA4883539 |
979 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883542 rs769346188 |
982 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883543 rs775142424 |
983 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4883544 rs775142424 |
983 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs370350125 CA4883545 |
983 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372239240 rs1170461745 |
985 | Q>H | No |
ClinGen gnomAD |
|
| VAR_016854 | 985 | Q>del | No | UniProt | |
|
rs750196077 CA4883549 |
988 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750196077 CA186286876 |
988 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883552 rs754082203 |
990 | S>N | No |
ClinGen ExAC |
|
|
rs1317469310 CA372239302 |
991 | D>G | No |
ClinGen gnomAD |
|
|
CA372239295 rs1453798271 |
991 | D>N | No |
ClinGen gnomAD |
|
|
CA372239324 rs1374407411 |
993 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs111363334 CA4883556 |
994 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114091109 CA4883557 |
995 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 995 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1208011283 CA372239335 |
995 | R>P | No |
ClinGen gnomAD |
|
|
rs114091109 CA372239332 |
995 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775054962 CA4883560 |
997 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA372239349 rs1238833095 |
998 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4883562 rs768382466 |
998 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs774018933 CA4883563 |
999 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1265618995 CA372239367 |
1001 | T>A | No |
ClinGen TOPMed |
|
|
CA372239714 rs1357268814 |
1003 | S>N | No |
ClinGen TOPMed |
|
|
rs765450689 CA4883589 |
1004 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA372239783 rs1490694180 |
1006 | Q>H | No |
ClinGen gnomAD |
|
|
CA4883590 rs115856143 |
1008 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4883591 rs758531254 |
1008 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757804193 CA4883594 |
1009 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883595 COSM1454957 rs375831720 |
1009 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA372239831 rs375831720 |
1009 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs115936153 CA372239868 |
1012 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372239883 rs1426593054 |
1013 | D>G | No |
ClinGen gnomAD |
|
|
CA372239886 rs1426593054 |
1013 | D>V | No |
ClinGen gnomAD |
|
|
rs114772213 CA4883599 COSM218947 |
1014 | D>N | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA4883601 rs772813183 |
1015 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770916833 CA4883603 |
1017 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA372239956 rs1376699508 |
1017 | G>R | No |
ClinGen gnomAD |
|
|
CA372239977 rs1292027913 |
1018 | A>S | No |
ClinGen gnomAD |
|
|
rs1292027913 CA372239971 |
1018 | A>T | No |
ClinGen gnomAD |
|
|
CA372239997 rs1563925497 |
1019 | S>T | No |
ClinGen Ensembl |
|
|
rs985329037 CA186291903 |
1020 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs114452431 CA4883606 |
1023 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775729175 CA4883609 |
1023 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883608 rs775729175 |
1023 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs114452431 CA4883607 |
1023 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA186291918 rs962077113 |
1024 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1235018794 CA372240092 |
1024 | S>P | No |
ClinGen gnomAD |
|
|
rs962077113 CA372240099 |
1024 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA4883610 rs764171548 |
1025 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs768133884 CA4883612 |
1028 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750948770 CA4883613 |
1029 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA372240241 rs1330801550 |
1031 | C>Y | No |
ClinGen gnomAD |
|
|
CA372240255 rs1563925721 |
1032 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 1032 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1415450065 CA372240263 |
1033 | A>T | No |
ClinGen TOPMed |
|
|
rs1587304992 CA372240343 |
1036 | S>I | No |
ClinGen Ensembl |
|
| TCGA novel | 1039 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1428552657 CA372240416 |
1040 | V>A | No |
ClinGen gnomAD |
|
|
CA4883617 rs758094581 |
1041 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs1237954789 CA372240433 |
1041 | Q>R | No |
ClinGen TOPMed |
|
|
CA372240459 rs1563925817 |
1042 | C>Y | No |
ClinGen Ensembl |
|
|
VAR_016855 CA186291953 rs143983705 |
1043 | H>Y | No |
ClinGen UniProt ESP TOPMed dbSNP |
|
|
rs139852375 CA372240491 |
1044 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139852375 CA4883619 |
1044 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139852375 CA4883620 COSM1096291 |
1044 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1225548630 CA372240511 |
1044 | A>V | No |
ClinGen gnomAD |
|
|
rs781164279 CA4883621 |
1045 | G>A | No |
ClinGen ExAC gnomAD |
|
|
COSM1489024 CA372240513 rs1320164743 |
1045 | G>R | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs745783665 CA4883623 |
1046 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1339458744 CA372240523 |
1046 | T>P | No |
ClinGen gnomAD |
|
|
rs745783665 CA4883622 |
1046 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1326153199 CA372240582 |
1047 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1326153199 CA372240584 |
1047 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA372240597 rs1587307666 |
1048 | H>L | No |
ClinGen Ensembl |
|
|
CA4883644 rs142124591 |
1050 | W>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768320340 CA4883645 |
1051 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1207111376 CA372240646 |
1051 | C>Y | No |
ClinGen gnomAD |
|
|
rs1289754001 CA372240650 |
1052 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA372240673 rs1279526735 |
1054 | E>* | No |
ClinGen TOPMed |
|
|
rs151186059 CA4883646 |
1057 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151186059 CA372240714 |
1057 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151186059 CA4883647 |
1057 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_016856 CA186292426 rs1016185504 |
1059 | I>T | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
|
rs897986391 CA186292439 |
1061 | G>D | No |
ClinGen gnomAD |
|
|
rs767000521 CA4883651 |
1061 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372240775 rs1364467943 |
1062 | S>L | No |
ClinGen gnomAD |
|
|
CA372240789 rs1370303930 |
1065 | A>T | No |
ClinGen gnomAD |
|
|
CA4883654 rs200122163 |
1066 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372240793 rs200122163 |
1066 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372240795 rs116119508 |
1066 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200122163 CA4883655 |
1066 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4883657 rs780765199 |
1069 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA4883659 rs755615691 |
1070 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4883681 rs573200938 |
1073 | C>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780022447 CA4883660 |
1073 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs145085612 CA4883683 |
1074 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs145085612 CA372240931 |
1074 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4883682 rs754898170 |
1074 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs758267135 CA372240940 |
1075 | T>I | No |
ClinGen ExAC TOPMed |
|
|
CA4883685 rs758267135 |
1075 | T>R | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 1076 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747214682 CA4883687 |
1078 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs532678471 CA4883688 |
1079 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA4883689 rs776606143 |
1080 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883691 rs745902921 |
1081 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA372241061 rs1453727868 |
1081 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs372114056 CA4883693 |
1082 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4883694 rs776058819 |
1083 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763365021 CA4883695 |
1083 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA372241157 rs1563927434 |
1088 | S>N | No |
ClinGen Ensembl |
|
|
CA4883696 rs764417184 |
1089 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372241175 rs1221472734 |
1089 | W>R | No |
ClinGen gnomAD |
|
|
rs772889117 CA4883697 |
1090 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1091 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4883698 rs760347212 |
1091 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883699 rs766004335 |
1092 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1096 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4883700 rs753305145 |
1096 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA372241341 rs1263051106 |
1097 | N>H | No |
ClinGen gnomAD |
|
|
CA372241349 rs1587311386 |
1097 | N>T | No |
ClinGen Ensembl |
|
|
rs200340687 CA4883701 |
1098 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4883702 rs765156801 |
1101 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA372241443 rs1587311468 |
1102 | D>A | No |
ClinGen Ensembl |
|
|
CA4883705 rs777680221 |
1102 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147030652 CA4883704 |
1102 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4883703 rs147030652 |
1102 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372241490 rs1430125983 |
1104 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs377018632 CA186292958 |
1106 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs377018632 CA372241506 |
1106 | P>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1050230988 CA186292964 |
1107 | A>G | No |
ClinGen TOPMed |
|
|
CA372241534 rs1282521989 |
1107 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA372241532 rs1282521989 |
1107 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs746002205 CA4883709 |
1108 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA4883708 rs781407770 |
1108 | C>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1110 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372241692 rs1326734092 |
1111 | T>S | No |
ClinGen gnomAD |
|
|
CA4883732 rs372960438 |
1113 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1384573217 CA372241733 |
1115 | A>G | No |
ClinGen TOPMed |
|
|
CA4883733 rs748581339 |
1116 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776709128 CA4883735 |
1120 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776709128 CA186293723 |
1120 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883736 rs759197109 |
1121 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142397084 CA372241773 |
1122 | A>P | No |
ClinGen ESP gnomAD |
|
|
CA186293729 rs142397084 |
1122 | A>T | No |
ClinGen ESP gnomAD |
|
|
rs1437649976 CA372241780 |
1123 | G>D | Variant assessed as Somatic; 9.37e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
RCV000425024 rs1057524360 CA16605983 |
1123 | G>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs971581238 CA186293730 |
1125 | W>* | No |
ClinGen Ensembl |
|
|
CA372241798 rs1240278662 |
1126 | C>R | No |
ClinGen gnomAD |
|
|
CA4883737 rs769291145 |
1126 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1587317968 CA372241814 |
1128 | D>A | No |
ClinGen Ensembl |
|
|
CA186293744 rs979848234 |
1129 | P>A | No |
ClinGen TOPMed |
|
|
CA4883739 rs762496683 |
1130 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1281844259 CA372241833 |
1131 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 1132 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4883741 rs185061531 |
1134 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1744541 CA372241848 rs1315034989 |
1134 | E>Q | biliary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA372241862 rs750140968 |
1136 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs116642273 CA4883743 COSM204371 |
1136 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4883745 rs756379508 |
1137 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs201480815 CA4883747 COSM454054 |
1139 | S>L | Variant assessed as Somatic; 4.775e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA372241901 rs1268941704 |
1142 | S>N | No |
ClinGen gnomAD |
|
|
rs1268941704 CA372241900 |
1142 | S>T | No |
ClinGen gnomAD |
|
|
CA372241907 rs1339239695 |
1143 | A>D | No |
ClinGen gnomAD |
|
|
CA372241909 rs1339239695 |
1143 | A>V | No |
ClinGen gnomAD |
|
|
rs1380172137 CA372241913 |
1144 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA372241933 rs949393726 |
1145 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA186294905 rs949393726 |
1145 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA372241950 rs1283730455 |
1147 | S>R | No |
ClinGen gnomAD |
|
|
CA4883759 rs761837837 |
1150 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372241976 rs1208511851 |
1151 | V>A | No |
ClinGen TOPMed |
|
|
rs1479992305 CA372241981 |
1152 | L>F | No |
ClinGen gnomAD |
|
|
rs1379143289 CA372241985 |
1153 | K>E | No |
ClinGen gnomAD |
|
|
CA372241991 rs1157601787 COSM1313727 |
1153 | K>N | Variant assessed as Somatic; 0.0 impact. urinary_tract breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1468342016 CA372241989 |
1153 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1360662478 CA372241998 |
1154 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA372241996 rs1360662478 |
1154 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1238629080 CA372242004 |
1155 | G>E | No |
ClinGen TOPMed |
|
|
rs1266066472 CA372242001 |
1155 | G>R | No |
ClinGen TOPMed |
|
|
CA372242015 rs1420933423 |
1157 | L>V | No |
ClinGen gnomAD |
|
|
CA372242041 rs1364178083 |
1161 | V>F | No |
ClinGen gnomAD |
|
|
CA372242050 rs1386576388 |
1162 | S>T | No |
ClinGen gnomAD |
|
|
rs773071292 CA4883762 |
1163 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4883763 rs760317901 |
1164 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA186294921 rs760317901 |
1164 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs61746583 CA186294950 |
1165 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372242083 rs1344624258 |
1166 | V>I | No |
ClinGen TOPMed |
|
|
rs1218803979 CA372242098 |
1167 | P>L | No |
ClinGen gnomAD |
|
|
CA372242094 rs1321523030 |
1167 | P>S | No |
ClinGen TOPMed |
|
|
rs1289525321 CA372242102 |
1168 | A>T | No |
ClinGen gnomAD |
|
|
CA4883766 rs368700185 |
1169 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA186294962 rs930054743 |
1170 | R>G | No |
ClinGen TOPMed |
|
|
rs765272800 CA4883767 |
1170 | R>T | No |
ClinGen ExAC gnomAD |
|
|
COSM137511 CA372242136 rs1435844880 |
1171 | A>T | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1180676074 CA372242145 |
1171 | A>V | No |
ClinGen gnomAD |
|
|
rs200377204 CA372242172 |
1173 | D>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4883768 rs200377204 |
1173 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1455169249 CA372242179 |
1174 | G>R | No |
ClinGen TOPMed |
|
|
rs778086768 CA4883770 |
1175 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA4883772 rs757682529 |
1176 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000522997 rs1554662694 |
1177 | S>missing | No |
ClinVar dbSNP |
|
|
rs779900722 CA4883773 |
1177 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372242227 rs1393390714 |
1177 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs779900722 CA372242220 |
1177 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883774 rs575819304 |
1178 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372242243 rs1587324405 |
1179 | V>E | No |
ClinGen Ensembl |
|
|
CA4883776 rs773930405 |
1179 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883780 rs374725321 |
1180 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4883778 rs772048773 |
1180 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA186295022 rs899556511 |
1181 | C>R | No |
ClinGen Ensembl |
|
|
rs766144399 CA4883781 |
1181 | C>W | No |
ClinGen ExAC |
|
|
rs1587324489 CA372242286 |
1183 | Q>P | No |
ClinGen Ensembl |
|
| TCGA novel | 1183 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs997010805 CA186295034 |
1184 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA186295036 rs900836123 |
1185 | Q>H | No |
ClinGen TOPMed |
|
|
COSM3698839 rs1194947783 CA372242311 |
1185 | Q>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1238418511 CA372242352 |
1188 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1238418511 CA372242354 |
1188 | C>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1189 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776882110 CA4883782 |
1190 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4883783 rs199858037 |
1191 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1194 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765395219 CA372242451 |
1194 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883786 rs762876395 |
1196 | E>K | No |
ClinGen ExAC |
|
|
CA372242495 rs1587324674 |
1198 | V>G | No |
ClinGen Ensembl |
|
|
CA372242486 rs1469237125 |
1198 | V>M | No |
ClinGen gnomAD |
|
|
rs114579361 CA4883787 |
1199 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs114579361 CA4883788 |
1199 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201453011 CA4883791 |
1201 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4883790 rs757735980 |
1201 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs367767514 CA4883793 |
1202 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs367767514 CA372242521 |
1202 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1378561530 CA372242529 |
1202 | R>H | No |
ClinGen gnomAD |
|
|
CA372242546 rs1587324833 |
1203 | V>G | No |
ClinGen Ensembl |
|
|
rs747758466 CA4883795 |
1203 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs777818583 CA4883797 |
1205 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs746921615 CA4883798 |
1205 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs777818583 CA372242571 |
1205 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA186295118 rs926456581 |
1206 | G>D | No |
ClinGen Ensembl |
|
|
rs1032485742 CA186295124 |
1207 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs369112823 CA372242612 |
1208 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4883800 rs143086996 |
1208 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4883799 rs369112823 |
1208 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4883802 rs545091700 |
1209 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369034345 CA186299504 |
1212 | S>R | No |
ClinGen ESP TOPMed |
|
|
CA4883831 rs754194585 |
1213 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4883835 rs200877580 |
1214 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751074855 CA4883834 |
1214 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA372242934 rs1246530176 |
1215 | C>Y | No |
ClinGen gnomAD |
|
|
CA4883837 rs142335537 |
1216 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749050717 CA4883840 |
1218 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883839 rs779735738 |
1218 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768761690 CA4883842 |
1220 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372242965 rs1159392694 |
1220 | N>S | No |
ClinGen gnomAD |
|
|
CA4883843 rs139820296 |
1221 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149681411 CA4883844 |
1221 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1222 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4883848 rs751571530 |
1223 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3834081 CA186299631 rs757193116 |
1223 | E>D | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1587349629 CA372242987 |
1224 | V>G | No |
ClinGen Ensembl |
|
|
CA372242982 rs1563937703 |
1224 | V>M | No |
ClinGen Ensembl |
|
|
CA372242992 rs1244194887 |
1225 | V>A | No |
ClinGen TOPMed |
|
|
CA4883849 rs759879378 |
1226 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs763803660 CA4883851 |
1228 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883852 rs751201719 |
1229 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs531327518 CA4883853 |
1230 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767044549 CA4883854 |
1231 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA372243052 TCGA novel rs1179466347 |
1232 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA4883855 rs142610289 |
1233 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756018137 CA4883856 |
1233 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs779970659 CA4883857 |
1235 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA4883858 rs369296999 |
1235 | S>L | Variant assessed as Somatic; 9.241e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs369296999 CA372243085 |
1235 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779324624 CA4883860 |
1237 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA372243103 rs1168126745 |
1237 | P>S | No |
ClinGen gnomAD |
|
|
CA186299670 rs767313444 |
1239 | G>A | No |
ClinGen Ensembl |
|
|
CA4883862 rs147622623 |
1239 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA372243170 rs1554664576 |
1242 | M>I | No |
ClinGen Ensembl |
|
|
CA4883864 rs747058307 |
1242 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs142243819 CA4883865 |
1243 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372243176 rs142243819 |
1243 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1380451533 CA372243192 |
1244 | Q>K | No |
ClinGen gnomAD |
|
|
CA4883867 rs759876674 |
1244 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375071844 CA4883870 |
1250 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs114944116 CA4883872 |
1250 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1252 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4883873 rs760224788 |
1252 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1238114567 CA372243316 |
1252 | G>R | No |
ClinGen gnomAD |
|
|
rs766282226 CA4883874 |
1253 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372243334 rs1445325792 |
1254 | W>R | No |
ClinGen gnomAD |
|
|
rs967851004 CA186299772 |
1255 | S>N | No |
ClinGen Ensembl |
|
|
CA4883876 rs150204986 |
1255 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4883878 rs139770730 |
1256 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4883879 rs758712176 |
1258 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA372243412 rs771031102 |
1260 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883882 rs771031102 |
1260 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373580580 CA4883881 |
1260 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372173594 CA4883883 |
1261 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746416178 CA372243425 |
1263 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs746416178 CA4883884 |
1263 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs375533716 CA4883887 |
1265 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1267 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372243450 rs1280353265 |
1267 | E>K | No |
ClinGen gnomAD |
|
|
CA372243464 rs1343210796 |
1268 | S>N | No |
ClinGen gnomAD |
|
|
rs148963953 CA4883889 |
1269 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4883890 rs754517497 |
1270 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770306755 CA4883891 |
1270 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759570683 CA4883893 |
1274 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372243549 rs1195502180 |
1274 | Q>P | No |
ClinGen gnomAD |
|
|
rs1375705127 CA372243576 |
1276 | P>R | No |
ClinGen gnomAD |
|
|
rs1587350404 CA372243573 |
1276 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 1277 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372243589 rs765208846 |
1277 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs143750687 CA4883895 |
1278 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372243600 rs368926894 |
1279 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs546423640 CA4883897 |
1279 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4883896 RCV000419822 rs368926894 |
1279 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA186299867 rs778440184 |
1280 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA186299868 rs568544559 |
1282 | Q>R | No |
ClinGen Ensembl |
|
|
rs138431235 CA186299870 |
1283 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1161951686 CA372243762 |
1283 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs138431235 CA4883899 |
1283 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4883928 rs745433860 |
1284 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883927 rs745433860 |
1284 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205929803 CA372243783 |
1285 | Q>H | No |
ClinGen TOPMed |
|
|
rs1480262082 CA372243771 |
1285 | Q>K | No |
ClinGen TOPMed |
|
|
CA372243778 rs1230747024 |
1285 | Q>R | No |
ClinGen TOPMed |
|
|
rs1064796627 RCV000485209 CA16618602 |
1286 | L>M | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA372243806 rs1484524207 |
1288 | Q>K | No |
ClinGen Ensembl |
|
|
CA372243817 rs1464297690 |
1289 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA372243816 rs1464297690 |
1289 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1377787342 CA372243826 |
1291 | Q>* | No |
ClinGen gnomAD |
|
|
CA186300706 rs867237696 |
1291 | Q>H | No |
ClinGen Ensembl |
|
|
rs1290522512 CA372243829 |
1291 | Q>R | No |
ClinGen TOPMed |
|
|
CA372243835 rs1393148805 |
1292 | T>N | No |
ClinGen gnomAD |
|
|
rs577857070 CA186300718 |
1293 | Q>H | No |
ClinGen gnomAD |
|
|
CA372243841 rs1339865383 |
1293 | Q>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs774197276 CA4883932 |
1294 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs750621312 CA4883935 |
1295 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883934 rs767833294 |
1295 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs761505057 CA4883933 |
1295 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4883936 rs756225459 |
1297 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1554665183 CA372243873 |
1298 | L>P | No |
ClinGen Ensembl |
|
|
CA4883939 rs549184203 |
1301 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs753868061 CA4883938 |
1301 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA4883940 rs536470244 |
1302 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4883942 rs758680819 |
1303 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372243898 rs1277867584 |
1303 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 1304 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372243920 rs1395151758 |
1305 | M>I | No |
ClinGen gnomAD |
|
|
CA372243912 rs1302817089 |
1305 | M>V | No |
ClinGen TOPMed |
|
|
CA372243934 rs528428282 |
1307 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4883943 rs528428282 |
1307 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA186300759 rs1050964101 |
1307 | S>T | No |
ClinGen TOPMed |
|
|
CA372243947 rs1422949204 |
1308 | A>P | No |
ClinGen TOPMed |
|
|
rs745487347 CA4883944 |
1308 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs769533061 CA4883945 |
1309 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs748737620 CA4883947 |
1310 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs748737620 CA4883948 |
1310 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs546894931 CA4883946 |
1310 | Y>H | No |
ClinGen 1000Genomes ExAC |
|
|
CA4883950 rs542720068 |
1311 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4883951 rs374714835 |
1311 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4883954 rs766533553 |
1313 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA372244044 rs1472610765 |
1314 | L>P | No |
ClinGen TOPMed |
|
|
CA4883956 rs753921202 |
1317 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1023282300 CA186300797 |
1317 | F>L | No |
ClinGen Ensembl |
|
|
CA4883955 rs753921202 |
1317 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1201564675 CA372244101 |
1318 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 1319 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs182776870 CA186300813 |
1321 | I>M | No |
ClinGen 1000Genomes |
|
|
CA372244135 rs1219861414 |
1321 | I>T | No |
ClinGen TOPMed |
|
|
CA4883959 rs116300941 |
1323 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4883958 rs376239243 |
1323 | D>V | No |
ClinGen ESP ExAC |
|
|
rs1193475220 CA372244212 |
1326 | T>K | No |
ClinGen gnomAD |
|
|
rs192226069 RCV000728869 CA4883963 |
1329 | G>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs962149524 CA186300842 |
1331 | C>F | No |
ClinGen Ensembl |
|
|
CA4883965 rs150728539 |
1333 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372244963 rs1246475476 |
1336 | K>* | No |
ClinGen gnomAD |
|
|
CA4883992 rs746111334 |
1337 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs746111334 CA372244980 |
1337 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA4883991 rs746111334 |
1337 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA4883993 rs115731476 COSM1096295 |
1338 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1195695217 CA372244990 |
1338 | F>S | No |
ClinGen gnomAD |
|
|
CA4883994 rs763117671 |
1340 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA372245042 rs1403525902 |
1342 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 1342 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372245039 rs1403525902 |
1342 | V>I | No |
ClinGen gnomAD |
|
|
rs762304795 CA4883997 |
1345 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs878870040 CA186305400 |
1346 | V>I | No |
ClinGen Ensembl |
|
|
CA372245095 rs752217675 |
1347 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs752217675 CA4884002 |
1347 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4884003 rs757890854 |
1350 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs746921713 CA4884005 |
1352 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA372245151 rs114157534 COSM1496792 |
1353 | Q>* | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs114157534 CA4884006 |
1353 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA186305453 rs950769836 |
1353 | Q>P | No |
ClinGen Ensembl |
|
| TCGA novel | 1354 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372245156 rs1289667345 |
1354 | V>M | No |
ClinGen gnomAD |
|
|
rs1335880630 CA372245164 |
1355 | G>S | No |
ClinGen gnomAD |
|
|
rs780874463 CA4884007 |
1357 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256349623 CA372245194 |
1358 | T>I | No |
ClinGen gnomAD |
|
|
rs745621238 CA186305471 |
1359 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA186305476 rs140517359 |
1361 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4884009 rs144469844 COSM1096298 |
1361 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4884010 rs775766333 |
1362 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA4884011 rs148492122 |
1363 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372245234 rs1189609985 |
1363 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 1364 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372245277 rs1168098795 |
1367 | T>I | No |
ClinGen gnomAD |
|
|
rs1465803661 CA372245281 |
1368 | W>R | No |
ClinGen gnomAD |
|
|
CA4884017 rs773941678 |
1371 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4884016 rs372280039 |
1371 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4884018 rs75503568 |
1373 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA372245348 rs1467203432 |
1374 | D>G | No |
ClinGen TOPMed |
|
|
rs1356536313 CA372245353 |
1375 | I>L | No |
ClinGen gnomAD |
|
| TCGA novel | 1375 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4884019 COSM326659 rs151255365 |
1376 | P>T | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA4884022 rs763629516 |
1378 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763629516 CA4884021 |
1378 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4884023 rs757201985 |
1382 | D>Y | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA372245446 rs548761622 |
1384 | H>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372245443 rs1440728508 |
1384 | H>Y | No |
ClinGen gnomAD |
|
|
CA4884025 rs750239188 |
1385 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372245453 rs1587369404 |
1385 | D>Y | No |
ClinGen Ensembl |
|
|
CA4884026 rs755913115 |
1386 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4884027 rs755913115 |
1386 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486535958 CA372245462 |
1386 | I>V | No |
ClinGen gnomAD |
|
|
CA186306652 rs533140471 |
1389 | A>D | No |
ClinGen 1000Genomes gnomAD |
|
|
CA4884052 rs747583392 |
1389 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs533140471 CA372245977 |
1389 | A>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs776998417 CA4884055 CA4884054 |
1390 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1391 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768367681 CA4884056 |
1392 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4884057 rs768367681 |
1392 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761267740 CA4884058 |
1395 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1206612680 CA372246126 |
1397 | G>V | No |
ClinGen gnomAD |
|
|
CA4884060 rs140482581 |
1398 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4884062 rs115263899 |
1398 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372246135 rs1193856624 |
1399 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs753750745 CA4884063 |
1401 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4884064 rs372049713 |
1405 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs903287769 CA186306731 |
1406 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
COSM224702 rs765607149 CA4884065 |
1407 | S>L | large_intestine skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA372246253 rs1216379291 |
1408 | F>L | No |
ClinGen TOPMed |
|
|
rs752935474 CA4884066 |
1408 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA372246311 rs1461163094 |
1413 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1414 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369573219 CA4884069 |
1414 | S>P | No |
ClinGen ESP ExAC TOPMed |
|
|
CA372246323 rs1347329492 |
1415 | K>R | No |
ClinGen TOPMed |
|
|
CA4884071 rs781663710 |
1416 | T>A | No |
ClinGen ExAC |
|
|
CA372246330 rs373993261 |
1416 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4884072 rs373993261 |
1416 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771566027 CA4884076 |
1422 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200236155 CA4884077 |
1423 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4884079 COSM304326 rs146594373 |
1423 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs776688425 CA372246379 |
1424 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776688425 CA4884080 |
1424 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372246400 rs1478045048 |
1425 | L>P | No |
ClinGen TOPMed |
|
|
rs1478045048 CA372246399 |
1425 | L>R | No |
ClinGen TOPMed |
|
|
CA372246411 rs1372165310 |
1426 | Q>P | No |
ClinGen TOPMed |
|
|
rs1456081611 CA372246433 |
1428 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 1429 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4884082 rs759444294 |
1431 | G>D | No |
ClinGen ExAC |
|
|
rs1013622380 CA186306772 |
1431 | G>S | No |
ClinGen Ensembl |
|
|
CA4884083 rs765157522 |
1432 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372246499 rs765157522 |
1432 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4884084 rs373334446 |
1433 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372246523 rs1367106334 |
1435 | R>G | No |
ClinGen gnomAD |
|
|
rs758663733 CA4884085 |
1436 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA372246542 rs1165930424 |
1436 | T>I | No |
ClinGen gnomAD |
|
|
CA186306795 rs2069558 VAR_016857 |
1437 | W>R | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs751732294 CA4884087 |
1438 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4884086 rs764158920 |
1438 | F>S | No |
ClinGen ExAC |
|
|
CA372246590 rs1364915503 |
1440 | C>S | No |
ClinGen gnomAD |
|
|
CA4884089 rs376342651 |
1441 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1443 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756562460 CA4884091 |
1443 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4884092 rs200116338 |
1447 | V>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749547496 CA4884093 |
1449 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs965143153 CA372246747 |
1450 | S>I | No |
ClinGen gnomAD |
|
|
rs965143153 CA186306843 |
1450 | S>N | No |
ClinGen gnomAD |
|
|
CA4884094 CA4884095 rs114024189 |
1450 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs976398214 CA186306861 |
1452 | A>G | No |
ClinGen TOPMed |
|
|
rs1315077807 CA372246769 |
1452 | A>T | No |
ClinGen gnomAD |
|
|
rs976398214 CA372246773 |
1452 | A>V | No |
ClinGen TOPMed |
|
|
CA4884096 rs746577645 |
1453 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA372246779 rs1217596545 |
1453 | S>N | No |
ClinGen gnomAD |
|
|
CA372246787 rs770534867 |
1454 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA4884097 rs770534867 |
1454 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA4884098 rs770534867 |
1454 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA4884100 rs769800036 |
1456 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372246845 rs777825620 COSM1158845 |
1459 | C>* | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs199615848 CA372246851 |
1460 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251802652 CA372247269 |
1460 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs149439101 CA186311282 |
1461 | K>T | No |
ClinGen ESP TOPMed gnomAD |
|
| VAR_016858 | 1463 | P>H | No | UniProt | |
|
rs774142193 CA4884123 |
1466 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs373609995 CA4884124 |
1467 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs933779749 CA186311299 |
1468 | S>F | No |
ClinGen gnomAD |
|
|
CA186311323 rs776134406 |
1473 | C>R | No |
ClinGen Ensembl |
|
| TCGA novel | 1474 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4884127 rs750567859 |
1475 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1477 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372247456 rs1215599058 |
1477 | P>L | No |
ClinGen gnomAD |
|
|
rs1261676104 CA372247465 |
1478 | V>A | No |
ClinGen gnomAD |
|
|
rs766958097 CA4884130 |
1479 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA4884128 rs760729122 |
1479 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4884129 rs766958097 |
1479 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA4884131 COSM604049 rs755472930 |
1480 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA372247530 rs1180343164 |
1484 | Q>* | No |
ClinGen TOPMed |
|
|
rs753055209 CA4884133 |
1484 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4884135 rs780990359 |
1485 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA372247542 rs756976077 |
1485 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756976077 CA4884134 |
1485 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372247550 rs1474779111 |
1486 | G>R | No |
ClinGen Ensembl |
|
|
rs745433898 CA4884136 |
1489 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA372247589 rs1324760905 |
1489 | A>V | No |
ClinGen gnomAD |
|
|
rs1394584499 CA372247591 |
1490 | C>R | No |
ClinGen gnomAD |
|
|
CA186311426 rs987721722 |
1491 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4884137 rs554374802 |
1491 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs946398303 CA186311430 |
1493 | C>Y | No |
ClinGen Ensembl |
|
|
rs779573343 CA4884138 |
1494 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs879190174 CA186311435 |
1497 | R>K | No |
ClinGen Ensembl |
|
|
CA4884143 rs772336211 |
1501 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs760782651 CA4884145 |
1503 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA186311451 rs558146403 |
1503 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA372247727 rs142799664 |
1504 | A>P | No |
ClinGen ESP gnomAD |
|
|
CA186311456 rs142799664 |
1504 | A>T | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 1505 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1014310000 CA186311457 |
1506 | S>N | No |
ClinGen gnomAD |
|
|
rs759976520 CA4884148 |
1510 | C>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1515 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764571216 CA4884169 |
1515 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1515 | Q>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372247854 rs1452162610 |
1517 | N>S | No |
ClinGen TOPMed |
|
|
rs200687678 CA4884171 |
1518 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs753345703 CA4884173 |
1519 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs754487178 CA4884174 |
1520 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA4884175 rs778861204 |
1520 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA372247898 rs1587421830 |
1524 | D>A | No |
ClinGen Ensembl |
|
|
rs532885276 COSM241885 CA4884179 |
1525 | Q>H | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1529 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4884180 rs771126854 |
1529 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA372247939 rs121912646 |
1530 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4884181 rs139187590 |
1530 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4884183 rs769967497 |
1531 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs769967497 CA4884182 |
1531 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs763563370 CA4884184 |
1531 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1318248741 CA372247949 |
1532 | S>I | No |
ClinGen TOPMed |
|
|
CA4884187 rs762221625 |
1535 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4884186 rs774642343 |
1535 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs765995450 CA4884188 |
1536 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs753497510 CA4884190 |
1536 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752145033 CA4884192 |
1538 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA4884191 rs764748064 |
1538 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA186313809 rs919200471 |
1539 | G>R | No |
ClinGen TOPMed |
|
|
rs1272052308 CA372248036 |
1540 | K>R | No |
ClinGen gnomAD |
|
|
rs758336562 CA4884193 |
1541 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs758336562 CA4884194 |
1541 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA372248080 rs1563959889 |
1543 | C>* | No |
ClinGen Ensembl |
|
|
rs1233519918 CA372248073 |
1543 | C>G | No |
ClinGen gnomAD |
|
|
COSM78639 CA372248076 rs1280870983 |
1543 | C>S | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA372248108 rs1349796033 |
1545 | D>A | No |
ClinGen gnomAD |
|
|
CA4884196 rs757055635 |
1546 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA4884198 rs145690097 |
1547 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs780281439 CA4884200 |
1549 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3318254 CA4884199 rs773795717 |
1549 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1479288358 CA372248196 |
1556 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 1556 | T>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4884203 rs774897423 |
1557 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs762124117 CA4884204 |
1558 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762124117 CA372248208 |
1558 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773400464 CA4884206 |
1560 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs934177345 COSM1330296 CA186313855 |
1561 | E>K | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA372248233 rs1159365574 |
1562 | D>E | No |
ClinGen Ensembl |
|
|
rs764803746 CA4884208 |
1563 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1225957118 CA372248245 |
1564 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 1564 | Q>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1367929551 CA372248251 |
1565 | C>Y | No |
ClinGen TOPMed |
|
|
CA372248256 rs148510036 |
1566 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750297490 CA4884232 |
1568 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs767348746 CA4884231 |
1568 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs755948833 CA4884233 |
1571 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4884235 rs776521801 |
1574 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755202156 CA4884236 |
1575 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1167395823 CA372249065 |
1577 | S>* | No |
ClinGen gnomAD |
|
|
rs144241506 CA4884237 |
1580 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372249111 rs144241506 |
1580 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146574874 CA372249133 |
1581 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374297725 CA372249143 |
1582 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759010973 COSM1096306 CA4884239 |
1582 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4884241 rs186309027 |
1583 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771256923 CA4884242 |
1583 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4884243 rs141316336 |
1584 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1226127208 CA372249177 |
1585 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA372249179 rs1340388622 |
1586 | P>A | No |
ClinGen TOPMed |
|
|
CA186317624 rs921787654 |
1586 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA372249185 rs1207890459 |
1587 | V>M | No |
ClinGen gnomAD |
|
|
rs539732702 CA4884245 |
1588 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA186317631 rs77093775 |
1589 | V>G | No |
ClinGen Ensembl |
|
|
rs368512066 CA4884247 |
1591 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA372249260 rs1217113359 |
1592 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA372249256 rs1217113359 |
1592 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA372249262 rs1258602787 |
1592 | K>T | No |
ClinGen gnomAD |
|
|
CA186317657 rs1053887198 |
1593 | V>F | No |
ClinGen gnomAD |
|
|
rs1431578455 CA372249316 |
1596 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1431578455 CA372249317 |
1596 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1171641952 CA372249323 |
1597 | E>K | No |
ClinGen gnomAD |
|
|
rs773250444 CA4884249 |
1599 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4884253 rs145098737 |
1600 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1454963 CA4884252 rs145098737 |
1600 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA372249377 rs1381271353 |
1601 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1381271353 CA372249376 |
1601 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA372249395 rs765373393 |
1602 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA372249384 rs1587446162 |
1602 | Q>K | No |
ClinGen Ensembl |
|
|
rs151306598 CA4884256 |
1605 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs559707026 CA4884278 |
1607 | C>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372249956 rs1563972212 |
1608 | T>P | No |
ClinGen Ensembl |
|
|
rs756415023 CA4884280 |
1610 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs747788493 CA4884282 |
1611 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747788493 CA372249989 |
1611 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372250001 rs1324691588 |
1612 | A>P | No |
ClinGen gnomAD |
|
|
rs1378791397 CA372250017 |
1613 | C>* | No |
ClinGen TOPMed |
|
| TCGA novel | 1613 | C>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1437848294 CA372250047 |
1616 | F>L | No |
ClinGen gnomAD |
|
|
CA4884287 rs114101452 |
1618 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4884288 rs759423976 |
1619 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1619 | S>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372250075 rs1167677783 |
1619 | S>T | No |
ClinGen TOPMed |
|
|
rs1331533488 CA372250086 |
1620 | T>S | No |
ClinGen gnomAD |
|
|
rs112003182 COSM1454980 CA4884292 |
1621 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs768065119 CA4884295 |
1623 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1625 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4884296 rs750918282 |
1626 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA186320264 rs374186378 |
1627 | C>Y | No |
ClinGen ESP gnomAD |
|
|
rs1253676857 CA372250180 |
1629 | F>I | No |
ClinGen gnomAD |
|
|
CA372250184 rs1356281373 |
1629 | F>S | No |
ClinGen gnomAD |
|
|
rs1253676857 CA372250182 |
1629 | F>V | No |
ClinGen gnomAD |
|
|
CA4884297 rs143415940 |
1631 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766658997 CA4884298 |
1632 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA186320268 rs371785994 |
1633 | T>K | No |
ClinGen Ensembl |
|
|
rs758183389 CA4884300 |
1636 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4884301 rs777563646 |
1638 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA372250285 rs1228719347 |
1643 | D>E | No |
ClinGen TOPMed |
|
|
rs1240885663 CA372250288 |
1644 | Q>E | No |
ClinGen gnomAD |
|
|
CA372250294 rs1442079882 |
1644 | Q>H | No |
ClinGen gnomAD |
|
|
COSM454057 rs555316512 CA4884324 |
1646 | R>* | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA186321654 rs573560722 |
1647 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372250331 rs1587475570 |
1648 | A>V | No |
ClinGen Ensembl |
|
|
CA186321659 rs1004511703 |
1651 | N>S | No |
ClinGen Ensembl |
|
|
CA372250353 rs1449473602 |
1652 | S>* | No |
ClinGen gnomAD |
|
|
rs1471808050 CA372250365 |
1654 | A>P | No |
ClinGen TOPMed |
|
|
rs1471808050 CA372250364 |
1654 | A>T | No |
ClinGen TOPMed |
|
|
CA4884327 rs371659816 |
1655 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371659816 CA372250374 |
1655 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM604045 rs1453114223 CA372250378 |
1656 | S>N | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA372250392 rs1157629555 |
1658 | G>R | No |
ClinGen gnomAD |
|
|
rs1235782834 CA372250408 |
1660 | L>H | No |
ClinGen TOPMed |
|
|
CA186321664 rs901793224 |
1661 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1316407588 CA372250437 |
1665 | K>E | No |
ClinGen gnomAD |
|
|
rs957207158 CA372250470 |
1669 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA372250474 rs1563975577 |
1670 | G>S | No |
ClinGen Ensembl |
|
|
CA372250499 rs1233442277 |
1673 | S>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1673 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1275249189 CA372250502 |
1674 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1346816972 CA372250526 |
1678 | L>M | No |
ClinGen gnomAD |
|
|
rs1221723696 CA372250529 |
1678 | L>S | No |
ClinGen gnomAD |
|
|
rs145809177 CA4884332 |
1679 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145809177 CA4884333 |
1679 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1680 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372250547 rs1011422832 |
1681 | G>C | No |
ClinGen gnomAD |
|
|
CA186321720 rs1011422832 |
1681 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1682 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372251183 rs1250560667 |
1683 | G>R | No |
ClinGen TOPMed |
|
|
CA4884358 rs760209530 |
1684 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1328158017 CA372251204 |
1685 | T>I | No |
ClinGen TOPMed |
|
|
rs933801495 CA186325703 |
1686 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs753289505 CA4884360 |
1686 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA372251236 rs1290996645 |
1689 | Q>R | No |
ClinGen gnomAD |
|
|
CA372251255 rs752529458 |
1691 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4884363 rs752529458 |
1691 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758188887 CA4884364 |
1692 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777383143 CA4884365 |
1693 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1693 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372251295 rs1421516219 |
1695 | T>I | No |
ClinGen Ensembl |
|
|
CA372251315 rs1479929400 |
1698 | Q>K | No |
ClinGen Ensembl |
|
|
CA372251321 rs1410341209 |
1698 | Q>R | No |
ClinGen Ensembl |
|
|
rs1587499541 CA372251341 |
1700 | M>L | No |
ClinGen Ensembl |
|
|
CA4884367 rs770991527 |
1701 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1702 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1483550797 CA372251375 |
1703 | G>R | No |
ClinGen gnomAD |
|
|
rs1255748251 CA372251399 |
1705 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1184632929 CA372251396 |
1705 | Y>C | No |
ClinGen gnomAD |
|
|
rs1563982304 CA372251391 |
1705 | Y>H | No |
ClinGen Ensembl |
|
|
rs1587499618 CA372251405 |
1706 | N>T | No |
ClinGen Ensembl |
|
|
rs776105050 CA4884371 |
1709 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4884373 rs769100474 |
1712 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1370953390 CA372251496 |
1712 | A>T | No |
ClinGen gnomAD |
|
|
rs774515536 CA4884374 |
1713 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1314271375 CA372251525 |
1714 | G>A | No |
ClinGen gnomAD |
|
|
CA372251524 rs1314271375 |
1714 | G>E | No |
ClinGen gnomAD |
|
|
CA186325803 rs369146959 |
1716 | N>K | No |
ClinGen ESP gnomAD |
|
|
rs766003525 CA4884376 |
1716 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759016310 CA4884378 |
1718 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752652095 CA4884380 |
1719 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs752652095 CA4884381 |
1719 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1201201061 CA372251565 |
1720 | A>T | No |
ClinGen gnomAD |
|
|
rs577918394 CA186325810 |
1720 | A>V | No |
ClinGen Ensembl |
|
|
rs1250032683 CA372251582 |
1722 | L>I | No |
ClinGen TOPMed |
|
|
rs757554833 CA4884384 |
1723 | F>Y | No |
ClinGen ExAC TOPMed |
|
|
CA372251610 rs1187990290 |
1725 | L>F | No |
ClinGen gnomAD |
|
|
rs1187990290 CA372251611 |
1725 | L>V | No |
ClinGen gnomAD |
|
|
CA4884385 rs536812542 |
1726 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 1727 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1096309 CA372251642 rs1466257413 |
1729 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA4884391 rs558908602 |
1730 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200793895 CA4884390 |
1730 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA186325850 rs115269259 |
1731 | D>G | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1563982595 CA372251690 |
1734 | C>Y | No |
ClinGen Ensembl |
|
|
rs759139106 CA4884394 |
1735 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764758076 CA4884395 |
1737 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA4884397 rs115053637 |
1738 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4884398 rs763921684 |
1739 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA372251756 rs1416261617 |
1741 | Q>* | No |
ClinGen TOPMed |
|
|
CA372251758 rs1191623297 |
1741 | Q>R | No |
ClinGen gnomAD |
|
|
CA4884400 rs771343263 |
1742 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1452886315 CA372251773 |
1743 | Q>E | No |
ClinGen gnomAD |
|
|
rs1563982720 CA372251785 |
1744 | G>R | No |
ClinGen Ensembl |
|
|
CA4884402 rs750708321 |
1745 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1171363927 CA372227795 |
1747 | I>V | No |
ClinGen TOPMed |
|
|
rs367877691 CA4884434 |
1748 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4884432 rs769500436 |
1748 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4884435 rs768069064 |
1750 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1471586935 CA372227865 |
1753 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA186284120 rs905226160 |
1753 | S>N | No |
ClinGen Ensembl |
|
|
CA4884438 rs772125005 |
1754 | S>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1755 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4884439 rs371749973 |
1756 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760517517 CA4884440 |
1757 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA372227906 rs1424929648 |
1757 | V>F | No |
ClinGen gnomAD |
|
|
CA372227907 rs1424929648 |
1757 | V>L | No |
ClinGen gnomAD |
|
|
rs1002157911 CA186284124 |
1760 | C>R | No |
ClinGen Ensembl |
|
|
rs766675619 CA4884441 |
1761 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA186284127 rs375073316 |
1762 | V>A | No |
ClinGen ESP |
|
|
rs754029660 CA4884442 |
1764 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759765067 CA4884443 |
1766 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765236212 CA4884445 |
1767 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372228124 rs1563991669 |
1768 | P>L | No |
ClinGen Ensembl |
|
|
rs758959438 CA4884447 |
1771 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA4884449 rs751958414 |
1773 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4884448 rs778247747 |
1773 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4884451 rs781567372 |
1774 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs748921152 CA4884452 |
1774 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748921152 CA372228239 |
1774 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4884453 rs754604734 |
1775 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778346770 CA4884454 |
1776 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186106042 CA372228287 |
1776 | T>I | No |
ClinGen gnomAD |
|
|
CA372228292 rs1186106042 |
1776 | T>R | No |
ClinGen gnomAD |
|
|
rs539754083 CA4884455 |
1777 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772180170 CA4884456 |
1777 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773261557 CA4884457 |
1778 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1779 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372228390 rs1359831943 |
1782 | Y>H | No |
ClinGen gnomAD |
|
|
CA4884463 rs775612855 |
1786 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299583470 CA372228469 |
1787 | H>Y | No |
ClinGen gnomAD |
|
|
CA4884464 rs762985917 |
1788 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA372228482 rs762985917 COSM749269 |
1788 | Q>K | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4884465 rs764630001 |
1789 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs536801147 CA4884467 |
1792 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs536801147 CA186284160 |
1792 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4884469 rs750788940 |
1793 | L>R | No |
ClinGen ExAC |
|
|
rs1464861162 CA372228589 |
1797 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 1797 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4884472 rs747710960 |
1799 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1477212432 CA372228628 |
1800 | K>R | No |
ClinGen gnomAD |
|
|
CA4884474 rs145792419 |
1801 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1281900826 CA372230048 |
1801 | S>R | No |
ClinGen gnomAD |
|
|
CA4884492 rs777433572 |
1802 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1209724477 CA372230066 |
1803 | T>A | No |
ClinGen gnomAD |
|
|
CA372230086 rs1291041050 |
1804 | P>H | No |
ClinGen gnomAD |
|
|
CA372230091 rs1291041050 |
1804 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA186288049 rs1025035828 |
1804 | P>S | No |
ClinGen Ensembl |
|
|
rs751065289 CA4884493 |
1805 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs757207718 CA4884494 |
1807 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4884495 rs368521956 |
1808 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs531835386 CA4884496 |
1808 | T>I | No |
ClinGen 1000Genomes ExAC |
|
|
rs531835386 CA186288056 |
1808 | T>N | No |
ClinGen 1000Genomes ExAC |
|
|
rs372291947 CA4884497 |
1810 | D>N | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 1810 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761677329 CA4884499 |
1811 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4884500 rs768854927 |
1811 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768854927 CA372230202 |
1811 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372230214 rs1163706507 |
1812 | F>L | No |
ClinGen gnomAD |
|
|
rs1587587014 CA372230230 |
1813 | T>A | No |
ClinGen Ensembl |
|
|
CA4884502 rs761925611 |
1813 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761925611 CA186288067 |
1813 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761925611 CA4884503 |
1813 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773791605 CA4884504 |
1814 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1474248492 CA372230249 |
1814 | N>S | No |
ClinGen TOPMed |
|
|
rs914114710 CA186288071 |
1816 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA4884505 rs761047115 |
1816 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372230314 rs1331661844 |
1817 | Q>H | No |
ClinGen gnomAD |
|
|
rs1402068280 CA372230310 |
1817 | Q>R | No |
ClinGen gnomAD |
|
|
rs1465731109 CA372230370 |
1820 | L>P | No |
ClinGen TOPMed |
|
|
rs766857104 CA4884506 |
1821 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA4884507 rs754197962 |
1821 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372230388 rs754197962 |
1821 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467473939 CA372231180 |
1825 | D>H | No |
ClinGen TOPMed |
|
|
CA372231201 rs377106482 |
1826 | M>L | No |
ClinGen ESP ExAC TOPMed |
|
|
rs377106482 CA4884533 |
1826 | M>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA4884535 rs764227297 |
1829 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173685713 CA372231262 |
1830 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1831 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372231265 rs1376752137 |
1831 | E>Q | No |
ClinGen gnomAD |
|
|
rs1177993020 CA372231308 |
1833 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1177993020 CA372231314 |
1833 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs369835918 CA4884536 |
1833 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs976168958 CA186288660 |
1834 | G>A | No |
ClinGen TOPMed |
|
|
rs976168958 CA372231336 |
1834 | G>V | No |
ClinGen TOPMed |
|
|
RCV000627572 rs1554681801 |
1837 | K>missing | No |
ClinVar dbSNP |
|
|
rs748407079 CA4884538 |
1838 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1838 | D>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758493300 CA372231447 |
1839 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4884539 rs758493300 |
1839 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564009232 CA372231458 |
1840 | V>A | No |
ClinGen Ensembl |
|
|
CA186288680 rs151113631 |
1840 | V>M | No |
ClinGen ESP gnomAD |
|
|
rs777968832 CA4884540 |
1841 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA372231475 rs1224311795 |
1842 | R>G | No |
ClinGen gnomAD |
|
|
CA4884541 rs756062007 |
1842 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771603935 CA4884542 |
1843 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208172264 CA372231498 |
1844 | A>S | No |
ClinGen gnomAD |
|
|
rs373076511 CA4884543 |
1846 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs889616993 CA186290916 |
1850 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA372232783 rs1392781060 |
1853 | T>P | No |
ClinGen TOPMed |
|
|
rs1388664766 CA372232803 |
1853 | T>R | No |
ClinGen gnomAD |
|
|
CA372232867 rs1292459211 |
1856 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1429350723 CA372232860 |
1856 | F>V | No |
ClinGen gnomAD |
|
|
rs1356481713 CA372232908 |
1858 | P>S | No |
ClinGen gnomAD |
|
|
rs912775942 CA186290926 |
1859 | V>A | No |
ClinGen Ensembl |
|
|
rs867374221 CA186290939 |
1860 | D>Y | No |
ClinGen Ensembl |
|
|
CA4884573 rs776062488 |
1861 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA4884574 COSM339533 rs759529451 |
1863 | Q>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA372233048 rs1457810288 |
1863 | Q>P | No |
ClinGen TOPMed |
|
|
rs1239356633 CA372233068 |
1864 | V>L | No |
ClinGen gnomAD |
|
|
rs370980114 CA4884576 |
1865 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372233146 rs1295171374 |
1867 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA372233187 rs1380144306 |
1869 | N>S | No |
ClinGen TOPMed |
|
|
rs201193012 CA186290944 |
1870 | Q>E | No |
ClinGen gnomAD |
|
|
rs1310039086 CA372233256 |
1873 | S>P | No |
ClinGen gnomAD |
|
|
CA372233311 rs1208876654 |
1875 | Q>K | No |
ClinGen gnomAD |
|
|
CA186290951 rs1040939418 |
1877 | H>N | No |
ClinGen TOPMed |
|
|
rs1243165985 CA372233450 |
1879 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA372233481 rs1457759013 |
1880 | F>C | No |
ClinGen Ensembl |
|
|
CA4884577 rs762632775 |
1880 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1489890580 CA372233507 |
1881 | K>R | No |
ClinGen TOPMed |
|
|
rs763899990 CA4884578 |
1882 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223206070 CA372233552 |
1883 | L>V | No |
ClinGen TOPMed |
|
|
CA4884580 rs757483872 |
1885 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4884579 rs751861442 |
1885 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA372233616 rs1187468786 |
1887 | Q>E | No |
ClinGen gnomAD |
|
|
rs781431822 CA4884581 |
1888 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs750514091 CA4884582 |
1888 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4884583 rs561825173 |
1889 | A>E | No |
ClinGen 1000Genomes ExAC |
|
|
rs1175830675 CA372233653 |
1889 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA372233685 rs1406872727 |
1890 | N>I | No |
ClinGen gnomAD |
|
| TCGA novel | 1892 | W>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780406166 CA4884584 |
1892 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs199667072 CA186291025 |
1894 | L>F | No |
ClinGen Ensembl |
|
|
CA372233793 rs1431249332 |
1895 | S>F | No |
ClinGen gnomAD |
|
|
CA4884586 rs768937349 |
1896 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287132845 CA372233965 |
1896 | R>H | No |
ClinGen gnomAD |
|
|
rs754309649 CA4884602 |
1898 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1450178339 CA372233993 |
1899 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA372234000 rs1222206851 |
1900 | E>K | No |
ClinGen gnomAD |
|
|
rs779309129 CA4884604 |
1901 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748509614 CA4884605 |
1901 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA372234018 rs1428433222 |
1902 | S>F | No |
ClinGen TOPMed |
|
|
CA4884607 rs780797972 |
1904 | C>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1904 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372234036 rs1335946117 |
1905 | Q>* | No |
ClinGen gnomAD |
|
|
CA4884608 rs745473655 |
1906 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4884610 COSM1454988 rs367688576 |
1907 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1468832349 CA372234057 |
1908 | E>A | No |
ClinGen TOPMed |
|
| TCGA novel | 1909 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA186291894 rs965332065 |
1909 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 1910 | T>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1306447202 CA372234070 |
1910 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA372234077 rs1426259192 |
1911 | E>G | No |
ClinGen TOPMed |
|
|
rs762807254 CA4884611 |
1912 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4884612 rs768698688 |
1913 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1407563447 CA372234091 |
1913 | A>V | No |
ClinGen gnomAD |
|
|
rs1448097217 CA372234096 |
1914 | S>C | No |
ClinGen TOPMed |
|
|
rs774352451 CA4884613 |
1916 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1240410257 CA372234113 |
1917 | F>L | No |
ClinGen gnomAD |
|
|
CA186291914 rs866844700 |
1918 | T>I | No |
ClinGen Ensembl |
|
|
CA4884615 rs767374452 |
1918 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1245758049 CA372234129 |
1919 | C>F | No |
ClinGen gnomAD |
|
|
rs899947293 CA186291915 |
1920 | T>A | No |
ClinGen Ensembl |
|
|
rs1303012148 CA372234136 |
1920 | T>I | No |
ClinGen gnomAD |
|
|
CA4884619 rs753941478 |
1921 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1438521493 CA372234448 |
1923 | P>L | No |
ClinGen gnomAD |
|
|
rs577872355 CA4884620 |
1923 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4884621 rs201240635 |
1924 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372234459 rs1443907055 |
1924 | E>D | No |
ClinGen gnomAD |
|
|
CA372234452 rs958265580 |
1924 | E>K | No |
ClinGen gnomAD |
|
|
rs958265580 CA186291935 |
1924 | E>Q | No |
ClinGen gnomAD |
|
|
rs544871977 CA186291947 |
1925 | A>G | No |
ClinGen 1000Genomes |
|
|
CA4884622 rs753111786 |
1925 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4884625 rs745510396 |
1928 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA186291954 rs1021193452 |
1930 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 1930 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1392663049 CA372234601 |
1931 | I>N | No |
ClinGen gnomAD |
|
|
rs115877910 CA4884626 |
1931 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372234634 rs779484127 |
1933 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs748823956 CA4884628 |
1934 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1587618417 RCV000850357 |
1935 | N>missing | No |
ClinVar dbSNP |
|
|
rs768751908 CA4884629 |
1935 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA186291967 VAR_016859 rs2069562 |
1936 | A>T | No |
ClinGen UniProt dbSNP gnomAD |
|
|
rs1226632023 CA372234688 |
1938 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA372234691 rs1226632023 |
1938 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1587618476 CA372234697 |
1939 | C>Y | No |
ClinGen Ensembl |
|
|
rs774454754 CA4884631 |
1940 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs373545363 CA186291970 |
1940 | R>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA372234721 rs1554683485 |
1941 | L>P | No |
ClinGen Ensembl |
|
|
CA372234764 rs1244764731 |
1945 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs982243242 CA186291980 |
1947 | P>R | No |
ClinGen TOPMed |
|
|
CA186291977 COSM1096314 rs925873451 |
1947 | P>S | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA4884634 rs773006124 |
1948 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1373339885 CA372234787 |
1949 | A>P | No |
ClinGen gnomAD |
|
|
CA372234795 rs1404633336 |
1950 | L>P | No |
ClinGen gnomAD |
|
|
rs199539350 CA4884636 |
1950 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369705913 CA4884638 COSM1454989 |
1952 | R>W | large_intestine Variant assessed as Somatic; 4.647e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP NCI-TCGA TOPMed gnomAD |
|
CA372234819 rs1380926961 |
1953 | K>E | No |
ClinGen gnomAD |
|
|
CA372234992 rs1305032741 |
1955 | V>A | No |
ClinGen gnomAD |
|
|
CA372235007 rs1390876905 |
1956 | I>M | No |
ClinGen gnomAD |
|
|
CA186293156 rs1051684563 |
1956 | I>T | No |
ClinGen TOPMed |
|
|
CA372235000 rs1426755775 |
1956 | I>V | No |
ClinGen TOPMed |
|
|
rs752255731 CA4884668 |
1959 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4884669 rs758310992 |
1961 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1962 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA186293177 rs867855657 |
1964 | F>V | No |
ClinGen Ensembl |
|
|
rs1223211224 CA372235110 |
1964 | F>Y | No |
ClinGen gnomAD |
|
|
rs1290699659 CA372235133 |
1966 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs777747219 CA4884670 |
1966 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA4884671 rs531115217 COSM1096317 |
1967 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4884672 rs542988060 |
1967 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1251923924 CA372235167 |
1969 | P>A | No |
ClinGen gnomAD |
|
|
rs368355594 COSM3736459 CA4884675 |
1969 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA372235173 rs368355594 |
1969 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372235185 rs1384925951 |
1970 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA372235183 rs1384925951 |
1970 | F>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1971 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1971 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4884678 rs762988037 |
1973 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4884680 rs774942370 |
1974 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs56230101 CA372235243 |
1974 | M>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4884681 rs762161350 |
1975 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1298797221 CA372235259 |
1975 | G>R | No |
ClinGen gnomAD |
|
|
CA372235272 rs894425388 |
1976 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs374368216 CA4884684 |
1976 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA186293259 rs1011988917 |
1976 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA186293258 rs894425388 |
1976 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA186293261 rs748239110 |
1977 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 1977 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372235300 rs1383182629 |
1978 | I>V | No |
ClinGen gnomAD |
|
|
CA372235319 rs1270534480 |
1979 | R>G | No |
ClinGen gnomAD |
|
|
CA186293267 rs1044608747 |
1980 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA372235415 rs1459481955 |
1983 | P>L | No |
ClinGen gnomAD |
|
|
rs1182219262 CA372235434 |
1984 | M>V | No |
ClinGen gnomAD |
|
|
rs1243052906 CA372235525 |
1988 | S>T | No |
ClinGen gnomAD |
|
|
rs757951468 CA4884687 |
1990 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757951468 COSM1454990 CA372235582 |
1990 | S>Y | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs777109612 COSM315892 CA4884688 |
1991 | N>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA372235650 rs1415493862 |
1992 | G>E | No |
ClinGen TOPMed |
|
|
rs751517022 CA4884689 |
1992 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs371667757 CA186295071 CA4884720 |
1993 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1457261377 CA372236496 |
1993 | F>S | No |
ClinGen TOPMed |
|
|
CA372236495 rs1457261377 |
1993 | F>Y | No |
ClinGen TOPMed |
|
|
CA186295076 rs971546113 |
1994 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA372236503 rs971546113 |
1994 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA372236533 rs1587635739 |
1995 | E>D | No |
ClinGen Ensembl |
|
|
CA4884722 rs777075341 COSM1489026 |
1998 | R>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA186295085 rs780979504 COSM3942531 |
1998 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs769362434 CA4884723 |
1999 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372236607 rs199923962 |
2001 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750388959 CA4884727 |
2002 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467472504 CA372236657 |
2003 | D>G | No |
ClinGen TOPMed |
|
|
rs753571286 CA4884730 CA372236776 |
2010 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA186295123 rs951703506 |
2010 | G>V | No |
ClinGen Ensembl |
|
|
rs755268298 CA4884731 |
2015 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1288546003 CA372236877 |
2016 | Q>L | No |
ClinGen gnomAD |
|
|
CA372236909 rs1221947406 |
2018 | K>E | No |
ClinGen gnomAD |
|
|
CA4884733 rs752919118 |
2018 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs757874903 CA4884775 |
2019 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs757874903 CA372237299 |
2019 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746336433 CA4884777 |
2020 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4884779 rs780396834 |
2021 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4884780 rs747857283 |
2022 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs772749997 CA4884782 |
2024 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA372237326 rs772749997 COSM1551758 |
2024 | C>Y | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs760157004 CA4884783 |
2026 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA4884785 rs776469447 |
2029 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA186295861 rs958155731 |
2029 | S>I | No |
ClinGen TOPMed |
|
|
CA4884787 rs765424647 |
2034 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs375837893 CA4884788 |
2036 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1204087787 CA372237406 |
2036 | S>N | No |
ClinGen gnomAD |
|
|
CA186295893 rs982210139 |
2037 | E>V | No |
ClinGen Ensembl |
|
|
CA4884790 rs764376788 |
2041 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA186295908 rs926306065 |
2042 | A>S | No |
ClinGen Ensembl |
|
|
CA585277714 rs1191958760 |
2042 | A>V | No |
ClinGen gnomAD |
|
|
rs1373281819 CA372237449 |
2042 | A>V | No |
ClinGen gnomAD |
|
|
rs1478537343 CA585277715 |
2043 | W>* | No |
ClinGen gnomAD |
|
|
CA585277716 rs1173599374 |
2043 | W>* | No |
ClinGen gnomAD |
|
|
rs1427839472 CA372237455 |
2043 | W>L | No |
ClinGen gnomAD |
|
|
CA4884791 rs751735110 |
2044 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1569185 CA4884792 rs573866267 |
2044 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4884793 rs573866267 |
2044 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM362637 CA372237460 rs751735110 |
2044 | R>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA372237470 rs1564023765 |
2046 | L>V | No |
ClinGen Ensembl |
|
|
rs756585904 CA372237482 |
2047 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs973259430 CA186295924 |
2057 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA372237551 rs973259430 |
2057 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA372237564 rs1220599335 |
2059 | P>L | No |
ClinGen gnomAD |
|
|
rs141876854 CA4884799 |
2060 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs868786926 CA186295949 |
2061 | G>K | No |
ClinGen Ensembl |
|
|
CA372237583 rs1484807075 |
2062 | W>* | No |
ClinGen gnomAD |
|
|
rs143645885 CA4884803 |
2064 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1403317292 CA372239384 |
2067 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 2068 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2068 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4884832 rs150850621 |
2068 | A>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs150850621 CA372239385 |
2068 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs886873052 CA186303339 |
2069 | Q>H | No |
ClinGen Ensembl |
|
|
CA4884833 rs765651112 |
2070 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372239408 rs1309730186 |
2071 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs753105045 CA4884834 |
2072 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372239413 rs753105045 |
2072 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359001137 CA372239419 |
2073 | P>A | No |
ClinGen TOPMed |
|
|
rs1359001137 CA372239418 |
2073 | P>S | No |
ClinGen TOPMed |
|
|
CA372239426 rs1290632809 |
2074 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1416338914 CA372239451 |
2077 | P>L | No |
ClinGen TOPMed |
|
|
CA4884836 rs780873069 |
2077 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA186303363 rs1008353697 |
2078 | L>F | No |
ClinGen gnomAD |
|
|
rs114087638 CA186303364 |
2081 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed |
|
CA4884837 rs202243807 |
2082 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372239482 rs1479947978 |
2083 | S>C | No |
ClinGen gnomAD |
|
|
CA372239484 rs779638531 |
2084 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1447792682 CA372239486 |
2084 | L>H | No |
ClinGen TOPMed |
|
|
CA4884839 rs779638531 |
2084 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1564036453 CA372239493 |
2085 | T>R | No |
ClinGen Ensembl |
|
|
rs1478933108 CA372229112 |
2088 | V>A | No |
ClinGen gnomAD |
|
|
rs575534729 CA4884867 |
2090 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| VAR_016860 | 2091 | D>E | No | UniProt | |
| TCGA novel | 2091 | D>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202227846 CA4884870 |
2092 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4884869 rs776093551 |
2092 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs202227846 CA372229163 |
2092 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372229173 rs1239097330 |
2093 | W>* | No |
ClinGen TOPMed |
|
|
CA372229207 rs1389460758 |
2096 | L>P | No |
ClinGen TOPMed |
|
|
rs1391609441 CA372229202 |
2096 | L>V | No |
ClinGen TOPMed |
|
|
CA4884873 rs760470737 |
2097 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150031397 CA4884874 |
2097 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1367962875 CA372229221 |
2098 | L>I | No |
ClinGen TOPMed |
|
|
rs1367962875 CA372229223 |
2098 | L>V | No |
ClinGen TOPMed |
|
|
rs1376689050 CA372229270 |
2101 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1376689050 CA372229266 |
2101 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
RCV000414376 rs1022412169 CA16042624 |
2102 | V>L | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs754565889 CA4884876 |
2103 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754565889 CA4884877 |
2103 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372229311 rs1266807337 |
2104 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 2107 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372229353 rs1357530512 |
2107 | I>V | No |
ClinGen gnomAD |
|
|
CA372229504 rs1587757233 |
2112 | V>I | No |
ClinGen Ensembl |
|
|
CA4884880 rs777694254 CA372229550 |
2114 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA186287708 rs760443386 |
2114 | H>R | No |
ClinGen gnomAD |
|
|
CA4884879 rs758257644 |
2114 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2115 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4884881 rs746778671 |
2115 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4884882 rs757516158 |
2117 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA186287720 rs917790942 |
2120 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1587757325 CA372229673 |
2121 | S>N | No |
ClinGen Ensembl |
|
|
CA372229718 rs1330118221 |
2123 | F>I | No |
ClinGen TOPMed |
|
|
rs781688385 CA186287726 |
2123 | F>Y | No |
ClinGen Ensembl |
|
|
CA372229749 rs1472221724 |
2124 | S>F | No |
ClinGen gnomAD |
|
|
rs1383018981 CA372229738 |
2124 | S>P | No |
ClinGen gnomAD |
|
|
CA4884884 rs746048170 |
2126 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1267702 rs749862463 CA4884887 |
2127 | R>Q | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1400203312 CA372229798 |
2128 | D>N | No |
ClinGen gnomAD |
|
|
rs1564071352 CA372229823 |
2129 | L>H | No |
ClinGen Ensembl |
|
|
CA4884888 rs142609908 |
2129 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372229853 rs1304348679 |
2130 | C>W | No |
ClinGen TOPMed |
|
|
rs1368018743 CA372229842 |
2130 | C>Y | No |
ClinGen TOPMed |
|
|
rs144940759 CA186287748 |
2131 | L>F | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 2131 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1400621547 CA372229875 |
2132 | S>P | No |
ClinGen TOPMed |
|
|
CA372229886 rs1564071404 |
2133 | E>K | No |
ClinGen Ensembl |
|
|
rs775118166 CA4884915 |
2134 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs775118166 CA4884914 |
2134 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs751500175 CA4884917 |
2136 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA4884918 rs761677788 |
2137 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA4884919 rs767357278 |
2139 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372230770 rs1401886919 |
2141 | L>F | No |
ClinGen gnomAD |
|
|
rs1299187319 CA372230786 |
2142 | I>N | No |
ClinGen gnomAD |
|
|
rs889351281 CA186288174 |
2144 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 2147 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372230852 rs1233716260 |
2147 | T>S | No |
ClinGen gnomAD |
|
|
rs61740824 CA186288184 |
2148 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs2069564 VAR_016861 |
2149 | P>L | No |
UniProt dbSNP |
|
|
CA4884923 rs754051778 |
2151 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA372230898 rs754051778 |
2151 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs770215648 CA186288198 |
2152 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1489025369 CA372230923 |
2153 | R>* | No |
ClinGen gnomAD |
|
|
CA186288206 rs141340310 |
2153 | R>S | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA4884925 rs143469458 |
2155 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs755017883 CA4884924 |
2155 | M>V | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel CA4884926 rs748723565 |
2156 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
rs968457241 CA186288218 |
2157 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs968457241 CA372230989 |
2157 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA372231104 rs1361404486 |
2165 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA372231106 rs1361404486 |
2165 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA372231114 rs1461485325 |
2166 | S>G | No |
ClinGen gnomAD |
|
|
rs1421657099 CA372231130 |
2167 | L>V | No |
ClinGen gnomAD |
|
|
rs1031353698 CA186288230 |
2170 | Q>E | No |
ClinGen Ensembl |
|
|
CA4884930 rs2069565 |
2170 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
VAR_016862 rs2069565 CA186288237 |
2170 | Q>R | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
CA372231213 rs1387236117 |
2171 | N>H | No |
ClinGen gnomAD |
|
|
rs762595592 COSM1635667 CA4884932 |
2173 | R>* | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA186288249 rs370464790 |
2174 | L>V | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 2175 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309610565 CA372231307 |
2176 | L>F | No |
ClinGen gnomAD |
|
|
CA372231322 rs761804509 |
2177 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs555719562 CA372231317 |
2177 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767410396 CA4884936 |
2178 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2179 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750268002 CA4884937 |
2180 | A>D | No |
ClinGen ExAC |
|
|
CA372231375 rs1587762598 |
2180 | A>P | No |
ClinGen Ensembl |
|
|
rs1587762640 CA372231387 |
2181 | T>P | No |
ClinGen Ensembl |
|
|
rs373083190 CA4884938 |
2183 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA186288288 rs970371764 |
2184 | Y>C | No |
ClinGen Ensembl |
|
|
rs148004631 COSM1454993 CA4884941 |
2185 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs770118724 CA4884940 |
2185 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1321349086 CA372231504 |
2187 | P>A | No |
ClinGen TOPMed |
|
|
CA372231510 rs1178395088 |
2187 | P>L | No |
ClinGen gnomAD |
|
|
CA4884977 rs746987440 |
2188 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA4884980 rs770871826 |
2189 | I>N | No |
ClinGen ExAC gnomAD |
|
|
RCV000967756 CA4884978 rs140792871 |
2189 | I>V | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
rs759430007 CA372232667 |
2191 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs759430007 CA372232669 |
2191 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763207427 CA4884985 |
2194 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2195 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs939101203 CA186290902 |
2195 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 2196 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA186290907 rs911842449 |
2196 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA372232818 rs1488041827 |
2196 | A>V | No |
ClinGen gnomAD |
|
|
rs1163117568 CA372232873 |
2199 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA372232868 rs1163117568 |
2199 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA372232907 rs1243790167 |
2200 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA372232954 rs1476961905 |
2202 | P>S | No |
ClinGen gnomAD |
|
|
rs1425541764 CA372232964 |
2203 | I>V | No |
ClinGen gnomAD |
|
|
CA372232998 rs1203009876 |
2205 | T>S | No |
ClinGen TOPMed |
|
|
rs1455401565 CA372233014 COSM1600207 |
2206 | H>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs376287568 CA4884988 |
2207 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780339765 CA4884992 |
2208 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759993655 CA186290946 |
2212 | R>W | No |
ClinGen Ensembl |
|
|
CA4884993 rs775044481 |
2213 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs765513775 CA372233156 |
2214 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs765513775 CA186290961 |
2214 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs747857156 CA4884994 |
2215 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA372233180 rs1318007768 |
2215 | A>P | No |
ClinGen TOPMed |
|
|
rs770300996 CA4884998 |
2218 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs770300996 CA4884999 |
2218 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4885002 rs769720524 |
2219 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA4885001 rs769720524 |
2219 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs763331647 CA372233319 |
2220 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4885003 rs763331647 |
2220 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372233370 rs1554698764 |
2222 | W>C | No |
ClinGen Ensembl |
|
|
CA372233396 rs1423088698 |
2224 | Q>R | No |
ClinGen TOPMed |
|
|
rs774341069 CA4885005 |
2225 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1243171950 CA372233451 COSM604422 |
2227 | Q>K | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1564077508 CA372233460 |
2227 | Q>L | No |
ClinGen Ensembl |
|
|
CA186291038 rs752999227 |
2229 | L>F | No |
ClinGen gnomAD |
|
|
CA186291061 rs937880196 |
2231 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA4885007 rs201514086 |
2232 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372233547 rs1587773487 |
2233 | Y>H | No |
ClinGen Ensembl |
|
|
rs542245773 CA4885009 |
2235 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1443580698 CA372233608 |
2236 | P>A | No |
ClinGen gnomAD |
|
|
rs145564745 CA4885010 |
2236 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1674191 CA372233627 rs1241079774 |
2237 | P>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 2239 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1280039966 CA372233668 |
2240 | E>K | No |
ClinGen TOPMed |
|
|
rs763309772 CA4885012 |
2242 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1227803080 CA372233757 |
2244 | Q>L | No |
ClinGen gnomAD |
|
|
CA372233782 rs1217566110 |
2245 | A>V | No |
ClinGen gnomAD |
|
|
CA372233806 rs1290527704 |
2247 | E>* | No |
ClinGen gnomAD |
|
|
CA372233832 rs1398587296 |
2248 | P>L | No |
ClinGen TOPMed |
|
|
rs751135331 CA4885013 |
2250 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA186291144 rs1028352274 |
2251 | W>* | No |
ClinGen Ensembl |
|
|
CA372233865 rs1342751413 |
2251 | W>G | No |
ClinGen TOPMed |
|
|
CA372233864 rs1342751413 |
2251 | W>R | No |
ClinGen TOPMed |
|
|
CA372233877 rs1196565092 |
2253 | G>S | No |
ClinGen gnomAD |
|
|
rs1458028569 CA372233887 |
2254 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA4885015 rs780506441 |
2256 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199683856 CA4885016 |
2257 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4885017 rs769847055 |
2258 | S>N | No |
ClinGen ExAC |
|
|
rs1163272336 CA372233931 |
2259 | K>N | No |
ClinGen gnomAD |
|
|
rs780033161 CA4885018 |
2260 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372233953 rs1564077825 |
2261 | R>T | No |
ClinGen Ensembl |
|
|
CA4885037 rs780160683 |
2263 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1343882962 CA372234244 |
2265 | W>C | No |
ClinGen gnomAD |
|
|
rs1263677261 CA372234265 |
2267 | P>R | No |
ClinGen TOPMed |
|
|
rs1036560795 CA186292428 |
2268 | G>D | No |
ClinGen Ensembl |
|
|
CA372234282 rs1281979345 |
2269 | T>I | No |
ClinGen gnomAD |
|
|
CA372234285 rs1381073379 |
2270 | R>G | No |
ClinGen gnomAD |
|
|
CA186292431 rs756875427 |
2270 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA4885040 rs756875427 |
2270 | R>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2272 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs80160085 CA372234321 |
2273 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4885041 rs80160085 |
2273 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372234344 rs1429590381 |
2275 | P>L | No |
ClinGen gnomAD |
|
|
CA372234350 rs1195814327 |
2276 | G>E | No |
ClinGen gnomAD |
|
|
CA372234348 rs1339380053 |
2276 | G>R | No |
ClinGen TOPMed |
|
|
rs1310024152 CA372234393 |
2280 | D>Y | No |
ClinGen TOPMed |
|
|
CA186292460 rs374390455 |
2281 | C>Y | No |
ClinGen ESP TOPMed |
|
| rs774153375 | 2282 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773330248 CA4885044 |
2283 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372234507 rs1564079377 |
2287 | F>I | No |
ClinGen Ensembl |
|
|
CA4885045 rs747115507 |
2288 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA4885046 rs770960694 |
2289 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA186292510 rs1048256271 |
2290 | Q>* | No |
ClinGen TOPMed |
|
|
rs1385617568 CA372234560 |
2290 | Q>P | No |
ClinGen gnomAD |
|
|
CA186292511 rs114404536 |
2292 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs137871955 CA4885068 |
2293 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM454058 rs137871955 CA186294401 |
2293 | A>T | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1479831632 CA372235301 |
2293 | A>V | No |
ClinGen TOPMed |
|
|
rs75712093 CA186294410 |
2294 | P>L | No |
ClinGen Ensembl |
|
|
CA372235332 rs1200366997 |
2295 | N>I | No |
ClinGen TOPMed |
|
|
rs149348416 CA372235334 |
2295 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs80285078 CA4885071 |
2296 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4885070 rs80285078 RCV000972456 |
2296 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1327478325 CA372235372 |
2298 | V>M | No |
ClinGen TOPMed |
|
|
CA4885073 rs115707520 |
2299 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1587785183 CA372235405 |
2300 | V>L | No |
ClinGen Ensembl |
|
|
CA4885074 rs754990517 |
2301 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA372235463 rs1178302524 |
2303 | H>Y | No |
ClinGen gnomAD |
|
|
CA186294478 rs963057622 |
2306 | M>T | No |
ClinGen TOPMed |
|
|
rs752638981 CA4885076 |
2306 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273191568 CA372235567 |
2308 | R>G | No |
ClinGen TOPMed |
|
|
CA186294483 rs753387361 |
2308 | R>K | No |
ClinGen Ensembl |
|
|
CA4885077 rs758191213 |
2308 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 2309 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs974791474 CA186294508 |
2310 | E>D | No |
ClinGen TOPMed |
|
|
CA372235622 rs1166985345 |
2311 | S>G | No |
ClinGen gnomAD |
|
|
CA372235626 rs1397901996 |
2311 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 2312 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781377138 CA4885081 |
2314 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4885082 rs535581469 |
2315 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA186294566 rs986970171 |
2316 | A>G | No |
ClinGen TOPMed |
|
|
CA4885084 rs780459363 |
2316 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs565749357 CA4885088 |
2319 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs141903233 CA4885087 |
2319 | G>S | No |
ClinGen ESP ExAC TOPMed |
|
|
CA4885089 rs770684224 |
2320 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA372235827 rs1475559081 |
2321 | F>S | No |
ClinGen gnomAD |
|
|
CA372235872 rs1481682153 |
2323 | A>V | No |
ClinGen gnomAD |
|
|
rs776297740 CA4885090 |
2326 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA186294645 rs778837963 |
2329 | I>V | No |
ClinGen Ensembl |
|
|
rs914583219 CA186294664 |
2332 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 2332 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2335 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4885098 rs144875913 |
2336 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1339017515 CA372236106 |
2338 | G>A | No |
ClinGen gnomAD |
|
|
rs114331060 CA4885100 |
2344 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 2345 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1253243061 CA372237876 |
2346 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA372237877 rs1253243061 |
2346 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4885123 rs779593378 |
2348 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA4885122 rs755059149 |
2348 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA372237903 rs1587806762 |
2349 | E>G | No |
ClinGen Ensembl |
|
|
rs1014647249 CA186300527 |
2349 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA372237914 rs1160547555 |
2350 | V>E | No |
ClinGen gnomAD |
|
|
rs748596718 CA4885124 |
2351 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA372237922 rs1347545594 |
2351 | S>N | No |
ClinGen TOPMed |
|
|
rs927864946 CA186300551 |
2351 | S>R | No |
ClinGen gnomAD |
|
|
CA372237977 rs1227869889 |
2355 | G>E | No |
ClinGen TOPMed |
|
|
rs745569697 CA372237983 |
2356 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4885127 rs745569697 |
2356 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3382123 rs147955511 CA4885129 |
2361 | A>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1224391463 CA372238048 |
2362 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs753867679 CA4885132 |
2364 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs761682079 CA4885133 |
2364 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs761682079 CA372238065 |
2364 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1402628866 CA372238078 |
2365 | W>* | No |
ClinGen TOPMed |
|
|
CA372238079 rs1402628866 |
2365 | W>C | No |
ClinGen TOPMed |
|
|
rs767275205 CA4885134 |
2366 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs767275205 CA372238092 |
2366 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1469626352 CA372238094 |
2367 | Q>K | No |
ClinGen gnomAD |
|
|
CA4885135 rs199566847 |
2367 | Q>P | No |
ClinGen ExAC |
|
|
CA186300597 rs199566847 |
2367 | Q>R | No |
ClinGen ExAC |
|
|
CA4885137 rs766646972 |
2368 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760848145 CA4885136 |
2368 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs201101763 CA4885138 |
2369 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1470211451 CA372238118 |
2369 | H>Y | No |
ClinGen gnomAD |
|
|
rs1410846026 CA372238138 COSM79075 |
2371 | R>* | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs866579848 CA186300629 |
2372 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA4885140 rs765347953 |
2374 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA372238193 rs1587807012 |
2376 | D>G | No |
ClinGen Ensembl |
|
|
CA4885143 rs747373357 |
2378 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1240409 rs61742878 RCV000888518 CA4885144 |
2379 | R>C | liver oesophagus [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA372238217 rs377043149 |
2379 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369236885 CA372238221 |
2380 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369236885 COSM247802 CA4885147 |
2380 | V>M | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1213401909 CA372238237 |
2381 | S>F | No |
ClinGen gnomAD |
|
|
rs1355714560 CA372238253 |
2383 | A>E | No |
ClinGen TOPMed |
|
|
CA372238266 rs1322445352 |
2384 | A>G | No |
ClinGen gnomAD |
|
|
CA4885149 rs748101495 |
2385 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2385 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772016260 CA186300675 |
2386 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4885150 rs772016260 |
2386 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144905796 COSM604417 CA4885151 |
2386 | R>H | lung endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4885152 rs201917315 |
2387 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777005576 CA372238304 |
2388 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4885156 rs765477121 |
2389 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1476396356 CA372238335 |
2390 | D>G | No |
ClinGen gnomAD |
|
|
CA372238360 rs1166448338 |
2392 | A>T | No |
ClinGen gnomAD |
|
|
CA372238393 rs1331106666 |
2394 | I>M | No |
ClinGen gnomAD |
|
|
rs752789418 CA4885157 |
2394 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396080645 CA372238384 |
2394 | I>V | No |
ClinGen gnomAD |
|
|
CA4885159 rs764687255 |
2398 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372238443 rs1357217404 |
2399 | A>S | No |
ClinGen gnomAD |
|
|
rs543721029 CA4885161 |
2400 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1587807276 CA372238543 |
2405 | Q>P | No |
ClinGen Ensembl |
|
|
rs1197227251 CA372238572 |
2406 | L>P | No |
ClinGen gnomAD |
|
|
CA372238589 rs754623645 |
2407 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1471802611 CA372238581 |
2407 | F>L | No |
ClinGen TOPMed |
|
|
CA4885164 rs754623645 |
2407 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA4885167 rs747673148 |
2408 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747673148 CA4885166 |
2408 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4885165 rs778434193 |
2408 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 2409 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372238608 rs1486916833 |
2409 | R>T | No |
ClinGen gnomAD |
|
|
CA4885168 rs777769800 |
2410 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372238616 rs777769800 |
2410 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444750485 CA372238625 |
2410 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 2411 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4885169 rs746860982 |
2411 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146711963 CA4885171 |
2413 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770906751 CA4885170 |
2413 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs200705981 CA186334043 |
2414 | G>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200705981 CA4885580 |
2414 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769050898 CA4885581 COSM129686 |
2415 | G>S | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM3412767 rs139465983 CA4885583 |
2417 | A>T | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4885584 rs765981571 |
2418 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753468842 CA4885585 |
2419 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA372244034 rs1588080282 |
2419 | S>P | No |
ClinGen Ensembl |
|
|
CA372244043 rs753468842 |
2419 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4885586 rs531027218 |
2420 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372244071 rs531027218 |
2420 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1490579510 CA372244095 |
2421 | A>D | No |
ClinGen TOPMed |
|
|
CA4885590 rs73354644 |
2422 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751428040 CA4885591 |
2422 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4885593 rs114811758 |
2423 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372244169 rs1454918638 |
2424 | I>F | No |
ClinGen gnomAD |
|
|
rs145427634 CA4885594 |
2424 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769833652 CA4885595 |
2425 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372244253 rs1304268800 |
2428 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 2429 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780079218 CA4885596 |
2429 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1408343134 CA372244305 |
2430 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA4885597 rs749843868 |
2430 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769173796 CA4885598 |
2431 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2432 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4885599 rs774802955 |
2433 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4885601 rs772426918 |
2434 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762093563 CA4885600 |
2434 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs776207162 CA4885602 |
2436 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4885604 rs181268619 |
2440 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1226444585 CA372244418 |
2441 | S>C | No |
ClinGen gnomAD |
|
|
CA186334167 rs984956668 |
2441 | S>N | No |
ClinGen Ensembl |
|
|
CA186334174 rs946628708 |
2443 | P>A | No |
ClinGen TOPMed |
|
|
rs1323535588 CA372244441 |
2444 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1184955426 CA372244455 |
2446 | S>C | No |
ClinGen gnomAD |
|
|
CA186334192 rs905016241 |
2446 | S>P | No |
ClinGen TOPMed |
|
|
rs762509078 CA4885607 |
2447 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372244462 CA372244463 rs1444653329 |
2447 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 2449 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4885609 rs751455739 |
2450 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs757056280 CA4885610 |
2453 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA372244500 rs757056280 |
2453 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA186334222 COSM1623632 rs2272707 |
2455 | R>L | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA372244510 rs201444172 |
2455 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1004244765 CA186334231 |
2456 | Q>* | No |
ClinGen TOPMed |
|
|
rs149102678 CA4885614 |
2456 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372244530 rs1302940843 |
2458 | P>R | No |
ClinGen TOPMed |
|
|
rs201280992 CA4885615 |
2458 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754988585 CA4885616 |
2459 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA372244538 rs1317108265 |
2460 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs779409681 CA4885617 |
2460 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4885618 rs748678686 |
2461 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4885619 rs374246286 |
2463 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1403853921 CA372244568 |
2464 | D>E | No |
ClinGen TOPMed |
|
|
CA372244563 rs1437133083 |
2464 | D>Y | No |
ClinGen TOPMed |
|
|
rs1481485390 CA372244576 |
2466 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1481485390 CA372244577 RCV000502203 |
2466 | Q>E | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1198386570 CA372244583 |
2466 | Q>H | No |
ClinGen gnomAD |
|
|
rs1461393675 CA372244597 |
2468 | K>N | No |
ClinGen gnomAD |
|
|
CA372244700 rs2069568 VAR_049084 |
2469 | L>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1588084358 CA372244706 |
2470 | L>P | No |
ClinGen Ensembl |
|
|
CA186334876 rs902099910 |
2471 | A>S | No |
ClinGen TOPMed |
|
|
rs768321234 CA4885642 |
2473 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4885643 rs773891454 |
2474 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1224979983 CA372244755 |
2474 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA372244757 rs1315843699 |
2475 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761179947 CA4885645 |
2477 | H>R | No |
ClinGen ExAC |
|
|
CA372244804 rs1487161073 |
2478 | Y>C | No |
ClinGen gnomAD |
|
|
CA4885646 rs767523971 |
2478 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs772956775 COSM1700670 CA4885647 |
2479 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1347295113 CA372244833 COSM1700671 |
2480 | G>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 2481 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs878862936 CA186334907 |
2483 | I>L | No |
ClinGen Ensembl |
|
|
rs139123826 CA186334917 |
2484 | D>G | No |
ClinGen ESP TOPMed |
|
|
rs766152332 CA4885649 |
2484 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4885650 rs766152332 |
2484 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406017855 CA372244899 |
2485 | G>S | No |
ClinGen gnomAD |
|
|
rs765324261 CA4885652 |
2486 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4885651 rs202166621 |
2486 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372244944 rs1287577483 |
2487 | F>C | No |
ClinGen gnomAD |
|
|
CA4885653 rs752849508 |
2488 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4885655 rs778353394 |
2489 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143135039 CA4885656 |
2489 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs781666811 CA4885658 |
2490 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs115860194 CA4885657 |
2490 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs888904025 CA372245038 |
2492 | P>A | No |
ClinGen gnomAD |
|
|
CA186334935 rs888904025 |
2492 | P>S | No |
ClinGen gnomAD |
|
|
rs768445997 CA4885660 |
2494 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA186334949 rs1021759162 |
2496 | L>P | No |
ClinGen Ensembl |
|
|
CA4885661 rs778391676 |
2500 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA186334957 rs998901877 |
2500 | L>S | No |
ClinGen TOPMed |
|
|
CA372245237 rs1225125695 |
2501 | W>* | No |
ClinGen gnomAD |
|
|
CA4885663 rs116726914 |
2501 | W>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs116726914 CA186334965 |
2501 | W>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4885664 rs773261263 CA4885665 |
2502 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1469876400 CA372245276 |
2503 | E>D | No |
ClinGen gnomAD |
|
|
CA4885666 rs770756324 |
2504 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA372245304 rs1442788021 |
2505 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs778470679 CA186334985 |
2507 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs752802019 CA4885670 |
2508 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs980888558 CA186335011 |
2510 | S>I | No |
ClinGen TOPMed |
|
|
CA4885671 rs763149541 |
2510 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs980888558 CA372245384 |
2510 | S>T | No |
ClinGen TOPMed |
|
|
rs1371495669 CA372245419 |
2512 | Q>P | No |
ClinGen TOPMed |
|
|
rs764074852 CA4885672 |
2513 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2513 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372245465 rs781746640 |
2514 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757815753 COSM1720674 CA4885674 |
2514 | D>N | Variant assessed as Somatic; 0.0 impact. NS [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA372245452 rs757815753 |
2514 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1036754438 COSM1623633 CA186335052 |
2515 | G>R | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA372245467 rs1036754438 |
2515 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1314997972 CA372245482 |
2516 | L>F | No |
ClinGen gnomAD |
|
|
rs1360857341 CA372245491 |
2517 | I>T | No |
ClinGen gnomAD |
|
|
rs750849260 CA4885677 |
2518 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA4885678 rs756368168 |
2519 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs756368168 CA372245503 |
2519 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs778641647 CA4885679 |
2520 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747745496 CA4885680 |
2522 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs747745496 CA372245521 |
2522 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2529 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA186344824 rs779592637 |
2530 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs761057592 CA186344828 |
2531 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761057592 CA4885715 |
2531 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4885718 rs755300748 |
2532 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA186344846 COSM1455005 rs755300748 |
2532 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4885719 rs146191554 |
2533 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372249702 rs1270739246 |
2534 | S>G | No |
ClinGen gnomAD |
|
|
CA186344854 rs983878331 |
2536 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs756823931 CA4885721 |
2538 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA186344869 COSM604414 rs767307057 |
2540 | Y>* | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs745866132 CA4885723 |
2540 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362462775 CA372249750 |
2541 | Q>* | No |
ClinGen gnomAD |
|
|
rs780001174 CA4885725 |
2541 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA4885724 rs756028059 |
2541 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs774728112 CA4885726 |
2542 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA186344884 rs78984822 |
2542 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 2547 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2979042 CA4885728 |
2547 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372249785 rs1194642250 |
2547 | L>V | No |
ClinGen TOPMed |
|
|
CA372249790 rs1336457757 |
2548 | G>C | No |
ClinGen gnomAD |
|
|
rs771343185 CA4885733 |
2554 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA186344906 rs772620359 |
2554 | A>S | No |
ClinGen Ensembl |
|
|
CA186344919 rs370013278 |
2555 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4885735 rs373473584 COSM1229067 |
2555 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs144050001 COSM3785871 CA4885737 |
2556 | V>I | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs767107955 CA4885739 |
2557 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767107955 CA4885740 |
2557 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4885742 rs557866225 |
2558 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA186345015 rs1045820558 |
2559 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs375673173 CA186345019 |
2561 | T>I | No |
ClinGen ESP |
|
|
CA4885743 rs368587657 |
2563 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372249876 rs1588126831 |
2563 | Y>D | No |
ClinGen Ensembl |
|
|
CA372249897 rs1449237680 |
2566 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs753803011 CA4885744 |
2566 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1422347274 CA372249912 |
2568 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs778821869 CA4885746 |
2568 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs146474537 CA4885748 |
2570 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs543488634 CA4885749 |
2572 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1244388982 CA372249983 |
2573 | Y>C | No |
ClinGen TOPMed |
|
|
rs771026858 CA4885751 |
2575 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs140831359 CA186345099 |
2576 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA372250056 rs149730707 |
2578 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA186345103 rs115015716 |
2578 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4885753 rs115015716 |
2578 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149730707 CA4885752 |
2578 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775853858 CA4885755 |
2584 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775853858 CA372250145 |
2584 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146323019 CA372250156 |
2585 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4885758 rs146323019 |
2585 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4885781 rs752664668 |
2586 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA372250563 rs1489488581 |
2586 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1489488581 CA372250565 |
2586 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4885782 rs758332514 |
2588 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751775674 CA372250603 |
2591 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs751775674 CA4885784 |
2591 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs757520733 CA4885785 |
2592 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs781230513 CA4885786 |
2592 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs745950808 CA4885787 |
2593 | I>V | No |
ClinGen ExAC |
|
|
rs141609051 CA4885790 |
2595 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141609051 CA4885791 |
2595 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774758173 CA372250636 CA4885792 |
2596 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA372250644 rs748414457 |
2598 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA4885793 rs748414457 |
2598 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA372250650 rs1482381402 |
2599 | A>T | No |
ClinGen gnomAD |
|
|
rs1365948913 CA372250655 |
2599 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA372250659 rs1236351790 |
2600 | W>* | No |
ClinGen TOPMed |
|
| TCGA novel | 2600 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1200144110 CA372250667 |
2601 | A>S | No |
ClinGen gnomAD |
|
|
rs776359923 CA4885795 |
2604 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs888902596 CA186346766 |
2604 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs759171140 CA4885796 |
2605 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 2605 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764832505 CA4885797 |
2605 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768687340 CA186346775 |
2606 | G>R | No |
ClinGen Ensembl |
|
|
rs1018632204 CA186346785 |
2607 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA372250725 rs908919079 |
2607 | N>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 2608 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4885800 rs569252473 |
2608 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 2609 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372250774 rs1231359561 |
2610 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA4885801 rs763886811 |
2610 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA372250794 rs1373380416 |
2611 | Y>* | No |
ClinGen TOPMed |
|
|
CA4885802 rs751400389 |
2611 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs756935449 CA4885803 |
2612 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 2613 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4885804 rs767739755 |
2613 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1163976357 CA372250827 |
2614 | P>L | No |
ClinGen TOPMed |
|
|
CA372250821 rs147063782 |
2614 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147063782 CA4885805 |
2614 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372250835 rs1162785268 |
2615 | E>G | No |
ClinGen gnomAD |
|
|
rs1167909326 CA372250875 |
2618 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4885809 rs755533156 |
2619 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 2621 | S>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753954841 CA372252476 |
2623 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA372252474 rs1361626369 |
2623 | E>V | No |
ClinGen gnomAD |
|
|
rs1321536850 CA372252493 |
2626 | A>V | No |
ClinGen gnomAD |
|
|
rs1588154072 CA372252499 |
2627 | D>G | No |
ClinGen Ensembl |
|
|
CA4885830 rs551893763 |
2628 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs779493543 CA4885829 |
2628 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4885831 rs758868285 |
2630 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs141942440 CA186355529 |
2633 | G>E | No |
ClinGen ESP |
|
|
rs1320857276 CA372252543 |
2634 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 2635 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372252554 rs1554731090 |
2636 | F>Y | No |
ClinGen Ensembl |
|
|
CA372252562 rs1588154123 |
2637 | Y>S | No |
ClinGen Ensembl |
|
|
CA372252568 rs150676561 |
2638 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150676561 CA4885833 |
2638 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 2638 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2294024 CA4885835 |
2640 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs953351224 CA186355545 |
2640 | Y>C | No |
ClinGen Ensembl |
|
| TCGA novel | 2641 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1426716160 CA372252586 |
2641 | E>G | No |
ClinGen gnomAD |
|
|
rs748852916 CA4885836 |
2641 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4885838 rs774386751 |
2642 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA4885841 rs771911095 |
2647 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372252623 rs771911095 |
2647 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773002556 CA4885842 |
2648 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA372252643 rs373751930 |
2649 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372252641 rs1440731338 |
2649 | K>R | No |
ClinGen TOPMed |
|
|
CA186355603 rs938416215 |
2650 | S>R | No |
ClinGen Ensembl |
|
|
COSM1096334 CA4885844 rs766615768 |
2652 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs114055648 CA4885846 |
2654 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372252706 CA4885847 rs765232148 |
2656 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA372252696 rs1363110225 |
2656 | M>V | No |
ClinGen TOPMed |
|
|
rs146172131 CA4885848 |
2657 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4885850 rs778359953 |
2660 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA186355662 rs74364760 |
2661 | H>Y | No |
ClinGen 1000Genomes |
|
| TCGA novel | 2662 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372252801 rs1266498278 |
2664 | R>G | No |
ClinGen gnomAD |
|
|
rs748861793 CA4885854 |
2666 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs775312304 CA4885873 |
2669 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4885875 rs747685482 |
2670 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4885874 rs778559501 |
2670 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757851867 CA372253018 |
2671 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757851867 CA4885876 |
2671 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372253016 rs757851867 |
2671 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1383783074 CA372253028 |
2672 | Y>H | No |
ClinGen gnomAD |
|
|
CA4885879 rs770774670 |
2676 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776307291 CA4885880 |
2677 | K>Q | No |
ClinGen ExAC |
|
|
rs1588156485 CA372253109 |
2678 | V>A | No |
ClinGen Ensembl |
|
|
rs1450920704 CA372253129 |
2680 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1330828075 CA372253157 |
2682 | A>V | No |
ClinGen gnomAD |
|
|
rs1377662259 CA372253166 |
2683 | T>N | No |
ClinGen gnomAD |
|
|
rs1377662259 CA372253167 |
2683 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 2686 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA186356683 rs530272451 COSM749253 |
2687 | D>E | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA4885882 rs769942851 |
2687 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs376496042 CA4885883 |
2689 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747046942 CA186356686 |
2690 | P>R | No |
ClinGen Ensembl |
|
|
rs764239765 CA4885886 |
2691 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4885887 rs531167775 |
2691 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA372253263 rs531167775 |
2691 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372253261 rs531167775 |
2691 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA186356709 rs976522290 |
2693 | G>R | No |
ClinGen TOPMed |
|
|
CA4885889 rs768009199 |
2694 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1313729 CA4885891 rs756459399 |
2695 | E>D | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA186356725 rs945747007 |
2695 | E>K | No |
ClinGen TOPMed |
|
|
CA4885890 rs750756628 |
2695 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA4885892 rs764816968 |
2696 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764816968 CA372253313 |
2696 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA186356742 rs201128277 |
2697 | Y>* | No |
ClinGen 1000Genomes |
|
|
CA372253354 rs1305625392 COSM604412 |
2698 | K>N | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA4885893 rs561370673 |
2698 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA186356750 rs867916302 |
2701 | S>G | No |
ClinGen TOPMed |
|
|
rs373291254 CA4885894 |
2701 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs929650595 CA186356788 |
2702 | E>K | No |
ClinGen Ensembl |
|
|
rs777256258 CA4885895 |
2704 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs1367406942 CA372253431 |
2705 | P>H | No |
ClinGen TOPMed |
|
|
rs116299430 CA4885896 |
2706 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1096336 rs890862536 CA186356815 |
2707 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA4885898 rs143950166 |
2707 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4885899 rs745673880 |
2708 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1217648641 CA372253479 |
2709 | G>V | No |
ClinGen gnomAD |
|
|
CA4885901 rs780464961 |
2710 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA4885902 rs749517425 |
2713 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA186356863 rs1055215249 |
2714 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4885904 rs774585616 |
2715 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA4885905 rs115574138 |
2716 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA186356886 rs900697094 |
2717 | F>S | No |
ClinGen Ensembl |
|
|
CA372253588 rs1258721562 |
2718 | W>* | No |
ClinGen gnomAD |
|
|
CA372253582 rs1258721562 |
2718 | W>L | No |
ClinGen gnomAD |
|
|
CA372253606 rs772485045 |
2719 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4885906 rs772485045 |
2719 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372253618 rs1588156748 |
2720 | K>T | No |
ClinGen Ensembl |
|
|
CA372253648 rs1174442850 |
2722 | I>T | No |
ClinGen gnomAD |
|
|
rs766731108 CA4885909 |
2722 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4885910 rs752408881 |
2723 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs752408881 CA4885911 |
2723 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2724 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1046477999 CA186356957 |
2726 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4885914 rs756744668 |
2727 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372253691 rs756744668 |
2727 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4885915 rs781042173 |
2728 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA186356980 rs766934113 |
2729 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 2730 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750344846 CA4885917 |
2730 | D>N | No |
ClinGen ExAC |
|
|
rs748368271 CA4885943 |
2731 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1054097801 CA186357964 |
2732 | A>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 2732 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758470590 CA4885945 |
2732 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA372253933 rs1296015264 |
2734 | G>S | No |
ClinGen gnomAD |
|
|
CA372253956 CA372253955 rs746997831 |
2737 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs746997831 CA4885949 |
2737 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs771463421 CA4885951 |
2739 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA372253976 rs1263937635 |
2740 | S>R | No |
ClinGen TOPMed |
|
|
CA372253995 rs1227003936 |
2743 | E>Q | No |
ClinGen gnomAD |
|
|
rs866863243 CA186358035 |
2744 | E>D | No |
ClinGen Ensembl |
|
|
CA4885952 rs151202676 |
2745 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 2745 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs181114893 CA4885954 |
2746 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs761512925 COSM370283 CA372254021 |
2747 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs761512925 CA4885956 |
2747 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767019917 CA4885957 |
2747 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4885959 rs760062634 |
2749 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA186358120 rs913638610 |
2749 | S>Y | No |
ClinGen TOPMed |
|
|
CA4885960 rs766440097 |
2750 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs753802423 CA4885961 |
2752 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2754 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4885962 rs754857798 |
2754 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372254092 rs1398947167 |
2759 | Q>* | No |
ClinGen gnomAD |
|
|
rs765116879 CA4885964 |
2759 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA186358161 rs910088864 |
2761 | P>Q | No |
ClinGen TOPMed |
|
|
rs758655882 CA4885966 |
2763 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1450512678 CA372254134 |
2765 | T>I | No |
ClinGen gnomAD |
|
|
rs1450512678 CA372254132 |
2765 | T>N | No |
ClinGen gnomAD |
|
|
CA4885967 rs202215145 |
2766 | Y>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747138432 CA4885968 |
2768 | K>N | No |
ClinGen ExAC gnomAD |
2 associated diseases with P01266
[MIM: 274700]: Thyroid dyshormonogenesis 3 (TDH3)
A disorder due to thyroid dyshormonogenesis, causing large goiters of elastic and soft consistency in the majority of patients. Although the degree of thyroid dysfunction varies considerably among patients with defective thyroglobulin synthesis, patients usually have a relatively high serum free triiodothyronine (T3) concentration with disproportionately low free tetraiodothyronine (T4) level. The maintenance of relatively high free T3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases. {ECO:0000269|PubMed:10199792, ECO:0000269|PubMed:16477365, ECO:0000269|PubMed:17244789, ECO:0000269|PubMed:17532758, ECO:0000269|PubMed:19509106, ECO:0000269|PubMed:27305979}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 608175]: Autoimmune thyroid disease 3 (AITD3)
A complex autoimmune disorder comprising two related diseases affecting the thyroid
Without disease ID
- A disorder due to thyroid dyshormonogenesis, causing large goiters of elastic and soft consistency in the majority of patients. Although the degree of thyroid dysfunction varies considerably among patients with defective thyroglobulin synthesis, patients usually have a relatively high serum free triiodothyronine (T3) concentration with disproportionately low free tetraiodothyronine (T4) level. The maintenance of relatively high free T3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases. {ECO:0000269|PubMed:10199792, ECO:0000269|PubMed:16477365, ECO:0000269|PubMed:17244789, ECO:0000269|PubMed:17532758, ECO:0000269|PubMed:19509106, ECO:0000269|PubMed:27305979}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A complex autoimmune disorder comprising two related diseases affecting the thyroid
No regional properties for P01266
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P01266 | |||
Functions
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| hormone activity | The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects; all bind receptors and trigger some biological process. |
| identical protein binding | Binding to an identical protein or proteins. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| hormone biosynthetic process | The chemical reactions and pathways resulting in the formation of any hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone. |
| iodide transport | The directed movement of iodide into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| regulation of myelination | Any process that modulates the frequency, rate or extent of the formation of a myelin sheath around nerve axons. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| thyroid gland development | The process whose specific outcome is the progression of the thyroid gland over time, from its formation to the mature structure. The thyroid gland is an endoderm-derived gland that produces thyroid hormone. |
| thyroid hormone generation | The formation of either of the compounds secreted by the thyroid gland, mainly thyroxine and triiodothyronine. This is achieved by the iodination and joining of tyrosine molecules to form the precursor thyroglobin, proteolysis of this precursor gives rise to the thyroid hormones. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MALVLEIFTL | LASICWVSAN | IFEYQVDAQP | LRPCELQRET | AFLKQADYVP | QCAEDGSFQT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VQCQNDGRSC | WCVGANGSEV | LGSRQPGRPV | ACLSFCQLQK | QQILLSGYIN | STDTSYLPQC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QDSGDYAPVQ | CDVQQVQCWC | VDAEGMEVYG | TRQLGRPKRC | PRSCEIRNRR | LLHGVGDKSP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PQCSAEGEFM | PVQCKFVNTT | DMMIFDLVHS | YNRFPDAFVT | FSSFQRRFPE | VSGYCHCADS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QGRELAETGL | ELLLDEIYDT | IFAGLDLPST | FTETTLYRIL | QRRFLAVQSV | ISGRFRCPTK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| CEVERFTATS | FGHPYVPSCR | RNGDYQAVQC | QTEGPCWCVD | AQGKEMHGTR | QQGEPPSCAE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GQSCASERQQ | ALSRLYFGTS | GYFSQHDLFS | SPEKRWASPR | VARFATSCPP | TIKELFVDSG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LLRPMVEGQS | QQFSVSENLL | KEAIRAIFPS | RGLARLALQF | TTNPKRLQQN | LFGGKFLVNV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GQFNLSGALG | TRGTFNFSQF | FQQLGLASFL | NGGRQEDLAK | PLSVGLDSNS | STGTPEAAKK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DGTMNKPTVG | SFGFEINLQE | NQNALKFLAS | LLELPEFLLF | LQHAISVPED | VARDLGDVME |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TVLSSQTCEQ | TPERLFVPSC | TTEGSYEDVQ | CFSGECWCVN | SWGKELPGSR | VRGGQPRCPT |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DCEKQRARMQ | SLMGSQPAGS | TLFVPACTSE | GHFLPVQCFN | SECYCVDAEG | QAIPGTRSAI |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GKPKKCPTPC | QLQSEQAFLR | TVQALLSNSS | MLPTLSDTYI | PQCSTDGQWR | QVQCNGPPEQ |
| 790 | 800 | 810 | 820 | 830 | 840 |
| VFELYQRWEA | QNKGQDLTPA | KLLVKIMSYR | EAASGNFSLF | IQSLYEAGQQ | DVFPVLSQYP |
| 850 | 860 | 870 | 880 | 890 | 900 |
| SLQDVPLAAL | EGKRPQPREN | ILLEPYLFWQ | ILNGQLSQYP | GSYSDFSTPL | AHFDLRNCWC |
| 910 | 920 | 930 | 940 | 950 | 960 |
| VDEAGQELEG | MRSEPSKLPT | CPGSCEEAKL | RVLQFIRETE | EIVSASNSSR | FPLGESFLVA |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| KGIRLRNEDL | GLPPLFPPRE | AFAEQFLRGS | DYAIRLAAQS | TLSFYQRRRF | SPDDSAGASA |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| LLRSGPYMPQ | CDAFGSWEPV | QCHAGTGHCW | CVDEKGGFIP | GSLTARSLQI | PQCPTTCEKS |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| RTSGLLSSWK | QARSQENPSP | KDLFVPACLE | TGEYARLQAS | GAGTWCVDPA | SGEELRPGSS |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| SSAQCPSLCN | VLKSGVLSRR | VSPGYVPACR | AEDGGFSPVQ | CDQAQGSCWC | VMDSGEEVPG |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| TRVTGGQPAC | ESPRCPLPFN | ASEVVGGTIL | CETISGPTGS | AMQQCQLLCR | QGSWSVFPPG |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| PLICSLESGR | WESQLPQPRA | CQRPQLWQTI | QTQGHFQLQL | PPGKMCSADY | ADLLQTFQVF |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| ILDELTARGF | CQIQVKTFGT | LVSIPVCNNS | SVQVGCLTRE | RLGVNVTWKS | RLEDIPVASL |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| PDLHDIERAL | VGKDLLGRFT | DLIQSGSFQL | HLDSKTFPAE | TIRFLQGDHF | GTSPRTWFGC |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| SEGFYQVLTS | EASQDGLGCV | KCPEGSYSQD | EECIPCPVGF | YQEQAGSLAC | VPCPVGRTTI |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| SAGAFSQTHC | VTDCQRNEAG | LQCDQNGQYR | ASQKDRGSGK | AFCVDGEGRR | LPWWETEAPL |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| EDSQCLMMQK | FEKVPESKVI | FDANAPVAVR | SKVPDSEFPV | MQCLTDCTED | EACSFFTVST |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| TEPEISCDFY | AWTSDNVACM | TSDQKRDALG | NSKATSFGSL | RCQVKVRSHG | QDSPAVYLKK |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| GQGSTTTLQK | RFEPTGFQNM | LSGLYNPIVF | SASGANLTDA | HLFCLLACDR | DLCCDGFVLT |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| QVQGGAIICG | LLSSPSVLLC | NVKDWMDPSE | AWANATCPGV | TYDQESHQVI | LRLGDQEFIK |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| SLTPLEGTQD | TFTNFQQVYL | WKDSDMGSRP | ESMGCRKDTV | PRPASPTEAG | LTTELFSPVD |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| LNQVIVNGNQ | SLSSQKHWLF | KHLFSAQQAN | LWCLSRCVQE | HSFCQLAEIT | ESASLYFTCT |
| 1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
| LYPEAQVCDD | IMESNAQGCR | LILPQMPKAL | FRKKVILEDK | VKNFYTRLPF | QKLMGISIRN |
| 1990 | 2000 | 2010 | 2020 | 2030 | 2040 |
| KVPMSEKSIS | NGFFECERRC | DADPCCTGFG | FLNVSQLKGG | EVTCLTLNSL | GIQMCSEENG |
| 2050 | 2060 | 2070 | 2080 | 2090 | 2100 |
| GAWRILDCGS | PDIEVHTYPF | GWYQKPIAQN | NAPSFCPLVV | LPSLTEKVSL | DSWQSLALSS |
| 2110 | 2120 | 2130 | 2140 | 2150 | 2160 |
| VVVDPSIRHF | DVAHVSTAAT | SNFSAVRDLC | LSECSQHEAC | LITTLQTQPG | AVRCMFYADT |
| 2170 | 2180 | 2190 | 2200 | 2210 | 2220 |
| QSCTHSLQGQ | NCRLLLREEA | THIYRKPGIS | LLSYEASVPS | VPISTHGRLL | GRSQAIQVGT |
| 2230 | 2240 | 2250 | 2260 | 2270 | 2280 |
| SWKQVDQFLG | VPYAAPPLAE | RRFQAPEPLN | WTGSWDASKP | RASCWQPGTR | TSTSPGVSED |
| 2290 | 2300 | 2310 | 2320 | 2330 | 2340 |
| CLYLNVFIPQ | NVAPNASVLV | FFHNTMDREE | SEGWPAIDGS | FLAAVGNLIV | VTASYRVGVF |
| 2350 | 2360 | 2370 | 2380 | 2390 | 2400 |
| GFLSSGSGEV | SGNWGLLDQV | AALTWVQTHI | RGFGGDPRRV | SLAADRGGAD | VASIHLLTAR |
| 2410 | 2420 | 2430 | 2440 | 2450 | 2460 |
| ATNSQLFRRA | VLMGGSALSP | AAVISHERAQ | QQAIALAKEV | SCPMSSSQEV | VSCLRQKPAN |
| 2470 | 2480 | 2490 | 2500 | 2510 | 2520 |
| VLNDAQTKLL | AVSGPFHYWG | PVIDGHFLRE | PPARALKRSL | WVEVDLLIGS | SQDDGLINRA |
| 2530 | 2540 | 2550 | 2560 | 2570 | 2580 |
| KAVKQFEESR | GRTSSKTAFY | QALQNSLGGE | DSDARVEAAA | TWYYSLEHST | DDYASFSRAL |
| 2590 | 2600 | 2610 | 2620 | 2630 | 2640 |
| ENATRDYFII | CPIIDMASAW | AKRARGNVFM | YHAPENYGHG | SLELLADVQF | ALGLPFYPAY |
| 2650 | 2660 | 2670 | 2680 | 2690 | 2700 |
| EGQFSLEEKS | LSLKIMQYFS | HFIRSGNPNY | PYEFSRKVPT | FATPWPDFVP | RAGGENYKEF |
| 2710 | 2720 | 2730 | 2740 | 2750 | 2760 |
| SELLPNRQGL | KKADCSFWSK | YISSLKTSAD | GAKGGQSAES | EEEELTAGSG | LREDLLSLQE |
| PGSKTYSK |