Q09472
EV
Gene name |
EP300 (P300) |
Protein name |
Histone acetyltransferase p300 |
Names |
p300 HAT , EC 2.3.1.48 , E1A-associated protein p300 , Histone butyryltransferase p300 , EC 2.3.1.- , Histone crotonyltransferase p300 , EC 2.3.1.- , Protein 2-hydroxyisobutyryltransferase p300 , EC 2.3.1.- , Protein lactyltransferas p300 , EC 2.3.1.- , Protein propionyltransferase p300 , EC 2.3.1.- |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2033 |
EC number |
2.3.1.48: Transferring groups other than amino-acyl groups |
Protein Class |
CBP/P300-RELATED (PTHR13808) |
Descriptions
Histone acetyltransferase p300 (EP300, also known as p300) is an enzyme that functions as histone acetyltransferase that regulates transcription of genes. It plays an essential role in regulating cell growth and division, prompting cells to mature and assume specialized functions, and preventing the growth of cancerous tumors. EP300 contains several domains including the CH1, KIX, CH3 (ZZ-TAZ2) and NCBD domains, which enable the interaction with numerous transcription factors and the basal transcription machinery. The activity of EP300 is regulated by its RING domain, or autoinhibitory loop within the HAT domain. The RING domain sterically occludes the HAT active site, and the displacement of the RING domain coupled to autoacetylation in trans results in full catalytic activation. Furthermore, the catalytic activity of EP300 is also regulated through acetylation / deacetylation of the autoinhibitory loop in the HAT domain, which impedes the acetyltransferase activity of EP300 but releases the inhibition upon hyper autoacetylation.
Autoinhibitory domains (AIDs)
Target domain |
1285-1664 (HAT domain) |
Relief mechanism |
PTM |
Assay |
Structural analysis, Split protein assay |
Target domain |
1285-1664 (HAT domain) |
Relief mechanism |
PTM |
Assay |
Structural analysis, Split protein assay |
Accessory elements
No accessory elements
References
- Delvecchio M et al. (2013) "Structure of the p300 catalytic core and implications for chromatin targeting and HAT regulation", Nature structural & molecular biology, 20, 1040-6
- Zhang Y et al. (2021) "Nuclear condensates of p300 formed though the structured catalytic core can act as a storage pool of p300 with reduced HAT activity", Nature communications, 12, 4618
Autoinhibited structure
Activated structure
57 structures for Q09472
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1L3E | NMR | - | B | 323-423 | PDB |
| 1P4Q | NMR | - | B | 323-423 | PDB |
| 2K8F | NMR | - | A | 1723-1812 | PDB |
| 2MH0 | NMR | - | B | 1723-1812 | PDB |
| 2MZD | NMR | - | A | 1723-1812 | PDB |
| 3BIY | X-ray | 170 A | A | 1287-1666 | PDB |
| 3I3J | X-ray | 233 A | A/B/C/D/E/F/G/H/I/J/K/L | 1040-1161 | PDB |
| 3IO2 | X-ray | 250 A | A | 1723-1836 | PDB |
| 3P57 | X-ray | 219 A | P | 1726-1835 | PDB |
| 3T92 | X-ray | 150 A | A | 1723-1818 | PDB |
| 4BHW | X-ray | 280 A | PDB | ||
| 4PZR | X-ray | 210 A | A | 1287-1664 | PDB |
| 4PZS | X-ray | 194 A | A | 1287-1664 | PDB |
| 4PZT | X-ray | 280 A | A | 1287-1664 | PDB |
| 5BT3 | X-ray | 105 A | A | 1048-1161 | PDB |
| 5KJ2 | X-ray | 195 A | PDB | ||
| 5LKT | X-ray | 204 A | PDB | ||
| 5LKU | X-ray | 350 A | PDB | ||
| 5LKX | X-ray | 252 A | PDB | ||
| 5LKZ | X-ray | 250 A | PDB | ||
| 5LPK | X-ray | 210 A | A/B/C/D/E/F/G | 1040-1161 | PDB |
| 5LPM | X-ray | 150 A | A/B | 1048-1161 | PDB |
| 5NU5 | X-ray | 160 A | A/B | 1048-1161 | PDB |
| 5XZC | EM | 1070 A | A | 1046-1664 | PDB |
| 6DS6 | X-ray | 195 A | A | 1661-1713 | PDB |
| 6FGN | NMR | - | A | 1723-1812 | PDB |
| 6FGS | NMR | - | A | 1723-1812 | PDB |
| 6GYR | X-ray | 310 A | A/B/C/D | 1046-1664 | PDB |
| 6GYT | X-ray | 250 A | A/B | 1047-1168 | PDB |
| 6K4N | EM | 980 A | A | 1046-1664 | PDB |
| 6PF1 | X-ray | 232 A | A/B | 1287-1663 | PDB |
| 6PGU | X-ray | 172 A | PDB | ||
| 6V8B | X-ray | 313 A | A | 1287-1666 | PDB |
| 6V8K | X-ray | 184 A | PDB | ||
| 6V8N | X-ray | 230 A | A | 1287-1666 | PDB |
| 6V90 | X-ray | 204 A | A | 1287-1666 | PDB |
| 7LJE | X-ray | 261 A | A/B/C/D | 1287-1666 | PDB |
| 7QGS | X-ray | 200 A | A | 330-420 | PDB |
| 7SS8 | X-ray | 215 A | PDB | ||
| 7SSK | X-ray | 236 A | PDB | ||
| 7SZQ | X-ray | 280 A | A | 1279-1666 | PDB |
| 7UGI | X-ray | 200 A | A/B | 1048-1161 | PDB |
| 7VHY | X-ray | 230 A | PDB | ||
| 7VHZ | X-ray | 200 A | PDB | ||
| 7VI0 | X-ray | 210 A | PDB | ||
| 7W9V | EM | 395 A | PDB | ||
| 7XEZ | NMR | - | A | 1723-1812 | PDB |
| 7XFG | NMR | - | A | 1723-1812 | PDB |
| 8E1D | NMR | - | A | 1723-1812 | PDB |
| 8FVF | X-ray | 210 A | A/B | 1048-1161 | PDB |
| 8GZC | X-ray | 200 A | PDB | ||
| 8HAG | EM | 320 A | K | 1048-1836 | PDB |
| 8HAH | EM | 390 A | K | 1048-1836 | PDB |
| 8HAI | EM | 470 A | K | 1048-1836 | PDB |
| 8HAJ | EM | 480 A | K | 1048-1836 | PDB |
| 8HAK | EM | 450 A | N | 1048-1836 | PDB |
| AF-Q09472-F1 | Predicted | AlphaFoldDB |
6549 variants for Q09472
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs181951278 RCV001198506 |
3 | E>K | Menke-Hennekam syndrome 2 [ClinVar] | Yes |
ClinVar 1000Genomes dbSNP |
|
rs2145665490 RCV002592674 |
10 | P>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000508685 CA645509367 rs1555902247 |
24 | S>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
CA10575640 RCV002477332 RCV001175122 RCV000125469 rs886037664 RCV002273956 |
35 | S>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs2145696235 RCV002554127 |
35 | S>C | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002560700 rs1186074560 RCV002286859 |
57 | N>D | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs370355846 RCV002554309 |
69 | G>D | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001849226 rs539635560 RCV002543882 RCV003355525 |
72 | Q>K | Autosomal dominant cerebellar ataxia Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000623701 CA658799553 rs1555905780 |
91 | P>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV003401835 RCV002554128 rs138538553 |
91 | P>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency EP300-related condition [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002543523 rs879722959 |
101 | G>D | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001758418 RCV001837039 rs762557708 |
101 | G>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002533623 RCV001766537 rs1193355188 |
103 | V>I | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000120710 RCV001355125 RCV002517583 rs150245975 CA158492 |
106 | S>G | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001376054 rs2145696782 RCV003317491 |
111 | S>N | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1303897359 RCV002544894 |
120 | S>N | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs757476470 RCV000785095 |
121 | M>I | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001561302 COSM88776 rs200635644 RCV000120711 CA158494 RCV002515841 |
126 | M>V | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV003015312 RCV003015313 RCV003403690 rs138241570 |
150 | S>P | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Inborn genetic diseases EP300-related condition [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002545689 rs142758675 RCV002489936 RCV002545418 |
152 | G>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001027429 rs1601598354 |
165 | M>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002555869 rs2058829252 |
195 | S>* | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA271496 RCV000145959 RCV003430709 rs148693910 |
196 | I>V | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002271904 rs769721953 |
200 | R>* | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar ExAC dbSNP |
|
RCV002492421 RCV002515842 CA158496 RCV000120712 RCV001536992 rs142030651 |
211 | G>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1569090642 RCV000023210 |
213 | G>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002550279 rs2145697647 |
217 | N>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002570500 RCV003438734 rs139130083 RCV001252237 |
217 | N>S | Intellectual disability Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002547613 rs1261612920 RCV002493823 RCV001355626 |
232 | G>A | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs147583157 RCV000286737 RCV002521872 CA10252345 |
247 | M>V | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2058879222 RCV001262411 |
250 | P>R | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA158500 RCV000970586 RCV000120714 RCV002515844 rs142009367 |
251 | N>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10581223 RCV000223783 rs876661318 |
257 | Y>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV002523230 RCV001252241 CA10252355 rs753462821 RCV003258779 |
261 | P>S | Intellectual disability Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2058879988 RCV002245878 |
278 | T>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA158502 RCV000120715 RCV002517584 RCV001530014 rs2230111 VAR_055554 |
289 | M>V | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA411683437 rs1555907094 RCV000623538 |
291 | K>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001252239 rs778066441 |
301 | N>S | Intellectual disability [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002515851 rs587778261 RCV000120731 CA158534 |
308 | P>L | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA249351 RCV003417733 rs762647727 COSM4824823 RCV002517348 RCV001550918 RCV000203150 |
318 | P>A | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Variant assessed as Somatic; MODERATE impact. EP300-related condition [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000623056 CA411683958 rs1555907278 |
356 | Q>* | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001269266 rs747431211 RCV003416142 |
365 | N>S | EP300-related condition [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2145710465 RCV001785344 |
381 | H>Q | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV003415911 CA158536 RCV002515852 rs377368037 RCV000120732 |
384 | S>A | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency EP300-related condition [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs779573838 COSM3740444 RCV003438866 RCV001619773 |
435 | V>I | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency liver [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002533620 rs746628829 |
439 | N>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001787311 rs2145715677 |
475 | Y>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001336368 rs2058919614 |
483 | Q>L | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2058919680 RCV001252694 |
485 | Q>missing | Microcephaly [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000624889 CA658799551 rs1555907749 |
503 | M>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001249755 rs1185038602 |
503 | M>T | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs886057556 RCV000285290 CA10651393 |
506 | M>V | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002514630 COSM88777 RCV001537538 CA158540 RCV000120734 RCV002498560 rs146242251 |
507 | S>G | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency haematopoietic_and_lymphoid_tissue Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs758573292 RCV002553944 |
514 | M>T | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs765266179 CA10252546 RCV003409548 RCV002520051 |
514 | M>V | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency EP300-related condition [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001027430 rs1601610306 |
536 | A>Y | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000415099 CA16043570 rs1057518835 |
540 | Q>R | Abnormal thumb morphology [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002534430 rs142823793 |
543 | M>V | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002579520 rs547550163 |
545 | S>N | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA16044368 RCV000417041 rs1057519397 |
558 | T>A | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1057519397 RCV002545434 |
558 | T>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001255736 COSM96421 RCV000007283 CA250540 rs137853038 |
580 | R>* | Carcinoma of colon Rubinstein-Taybi syndrome due to EP300 haploinsufficiency oesophagus large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV003405464 rs750740148 RCV002570571 RCV002485996 RCV001254709 |
594 | T>M | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Rubinstein-Taybi syndrome due to CREBBP mutations EP300-related condition [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001779375 rs778829658 |
621 | E>K | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV003164264 RCV002552289 rs775426461 |
625 | N>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs137853039 CA253988 RCV000007285 COSM4843126 |
648 | R>* | Variant assessed as Somatic; HIGH impact. Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1601613391 RCV001027431 |
653 | Q>* | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002273348 rs1339311567 |
662 | A>E | Menke-Hennekam syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs749541256 RCV000596331 CA10252687 RCV002532565 |
669 | M>V | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000626809 rs1555908795 CA411688541 |
676 | G>A | Corpus callosum, agenesis of [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002224172 rs199636064 RCV003089163 |
693 | M>T | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001252243 RCV000367429 RCV000120704 CA158481 RCV002515839 RCV001572648 rs61756764 |
697 | S>R | Intellectual disability Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
rs149858781 RCV001716654 RCV002543868 |
704 | P>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000415048 CA16043636 rs1057519012 |
721 | A>missing | Microcephaly [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs879253873 CA10584654 RCV000236044 |
722 | Q>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs766858607 RCV001266433 RCV003405475 |
738 | Q>R | Inborn genetic diseases EP300-related condition [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2059021664 RCV001331931 |
742 | P>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001668332 RCV000893330 CA200927 RCV000174298 rs193026103 |
747 | P>L | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000930917 rs370478867 COSM1308203 |
749 | M>V | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Variant assessed as Somatic; MODERATE impact. urinary_tract [ClinVar, NCI-TCGA, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
rs1601618876 RCV001027432 RCV003332285 |
751 | Y>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002556410 rs544338126 |
754 | R>H | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs374502005 RCV001255813 |
760 | N>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2145736063 RCV002471160 RCV001783198 |
779 | N>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10252839 RCV001731840 RCV002530498 rs755619355 |
783 | A>V | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201480900 RCV002549745 RCV001576395 RCV000990449 |
784 | P>L | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs564786569 RCV002519908 RCV000249192 CA10252843 |
787 | G>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs749702423 COSM1682286 RCV002543791 |
802 | P>L | kidney Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs774840930 RCV000891182 |
838 | R>H | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003413754 RCV000952075 rs201030855 |
858 | T>A | EP300-related condition [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001709491 CA158490 RCV000120709 RCV002515840 rs145714752 |
859 | I>T | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002539684 rs754168978 RCV001688233 |
865 | T>I | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002520052 rs540935486 RCV001573524 RCV003151036 CA10252908 |
870 | P>L | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV003094161 rs772707021 RCV002252646 |
882 | P>R | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003093884 RCV002224886 rs2059034589 |
883 | R>G | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001619864 rs148308496 RCV002545994 |
886 | P>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001269285 rs953108559 |
887 | T>I | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001594332 rs577396026 RCV002579486 |
890 | T>P | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002252930 RCV003101376 rs200499648 RCV003395435 |
891 | T>P | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency EP300-related condition [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000952076 RCV003259021 rs748820220 |
915 | R>H | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs150389014 RCV003061797 |
922 | A>V | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002517582 RCV000120708 CA158488 RCV000445350 RCV000294667 rs148884710 COSM88779 RCV002498558 |
925 | P>T | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency haematopoietic_and_lymphoid_tissue Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM4833752 rs2059047548 RCV001266107 |
952 | S>* | Variant assessed as Somatic; HIGH impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar Ensembl dbSNP |
|
RCV000007286 rs1569108381 |
960 | T>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001837188 rs2145740050 |
987 | P>L | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA411693101 RCV002530499 rs1555909666 |
995 | E>* | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001664278 RCV000079673 CA147264 rs20551 RCV001610362 RCV001664279 VAR_020425 |
997 | I>V | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Menke-Hennekam syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001195547 rs2059050320 |
1004 | D>* | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000509248 CA10253033 rs775368605 |
1011 | E>Q | Developmental and epileptic encephalopathy, 18 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2059050708 RCV001251112 |
1022 | E>* | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1601621506 RCV000856773 |
1024 | K>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555909697 CA658658921 RCV000576254 |
1024 | K>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000886152 RCV002539350 rs1601621514 |
1026 | E>D | Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2145741097 RCV002571270 |
1040 | A>T | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2059051273 RCV001262415 |
1046 | K>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10602464 rs886041830 RCV000490768 RCV000369937 |
1055 | R>* | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000824847 rs1601623271 |
1056 | Q>* | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002546061 rs2059069019 |
1060 | P>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2145747224 RCV001374956 COSM1034536 |
1101 | T>I | Variant assessed as Somatic; MODERATE impact. endometrium Neurodevelopmental disorder [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP |
|
RCV001027433 rs1601624722 |
1124 | M>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003101361 RCV002248233 RCV003101362 COSM1034542 rs777847755 |
1126 | N>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Variant assessed as Somatic; MODERATE impact. endometrium Inborn genetic diseases [ClinVar, NCI-TCGA, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001027434 rs1601624754 |
1147 | E>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1601624790 RCV001007889 |
1162 | Y>* | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA275975 RCV000190511 RCV000990451 rs565779970 |
1191 | Y>* | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002548926 rs1340981566 |
1197 | R>W | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs1305375514 RCV001269286 |
1198 | Y>H | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV002515843 rs587778255 RCV000120713 CA158498 |
1205 | F>L | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV002535954 rs779792116 |
1206 | N>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs143660871 RCV000990452 |
1208 | I>M | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA271494 RCV000145956 rs7285319 |
1222 | P>H | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002245020 RCV001092852 rs1555910482 CA658658922 |
1228 | K>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV003107871 rs2145754777 |
1229 | E>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002549746 RCV000990453 rs1601628237 |
1236 | N>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
CA645509366 RCV000505193 rs1555910602 |
1245 | V>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000679981 rs747187417 |
1250 | C>W | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1601629319 RCV000990454 |
1250 | C>Y | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2145759333 RCV001775296 |
1276 | L>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2059136013 RCV002273133 |
1280 | A>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA411698707 RCV003401414 RCV002252119 RCV001260706 RCV002244870 RCV000439427 rs1555910821 COSM317283 |
1286 | N>S | lung Intellectual disability Rubinstein-Taybi syndrome due to EP300 haploinsufficiency EP300-related condition [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
RCV002275569 rs772897576 |
1295 | S>C | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2145762737 RCV002275628 |
1298 | L>R | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001260705 rs766262045 |
1301 | F>V | Intellectual disability [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2059152743 RCV001171509 |
1303 | E>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003426192 RCV001768588 rs1487546042 |
1324 | R>K | EP300-related condition [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001374951 rs1268191227 |
1326 | V>I | Neurodevelopmental disorder [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
COSM35695 rs2145762914 RCV002553664 |
1337 | P>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency central_nervous_system [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar Ensembl dbSNP |
|
rs886043598 RCV002550364 CA10605705 RCV000364359 |
1355 | Y>* | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD ClinGen |
|
COSM1682287 RCV002552580 rs1440862488 |
1356 | R>* | Variant assessed as Somatic; HIGH impact. Rubinstein-Taybi syndrome due to EP300 haploinsufficiency NS breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar dbSNP gnomAD |
|
rs2059154269 RCV002564060 |
1359 | A>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1464734494 RCV001027435 |
1391 | R>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV000441276 COSM122851 RCV000433004 CA16602839 RCV000432135 RCV000423637 rs1057519889 RCV000424698 RCV000442744 |
1399 | D>N | Medulloblastoma (mdb) Esophageal carcinoma cervix upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. Neoplasm of uterine cervix urinary_tract central_nervous_system lung Squamous cell carcinoma of the head and neck Medulloblastoma Squamous cell lung carcinoma oesophagus [Ensembl, ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000419852 RCV000436887 RCV000426641 RCV000435813 rs1057519889 CA16602840 RCV000443543 COSM96419 RCV000425557 |
1399 | D>Y | Medulloblastoma (mdb) lung Squamous cell carcinoma of the head and neck Esophageal carcinoma Variant assessed as Somatic; MODERATE impact. Medulloblastoma Squamous cell lung carcinoma Neoplasm of uterine cervix oesophagus urinary_tract stomach [Ensembl, Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001252238 RCV002527415 RCV002527414 RCV000513127 CA10253374 rs138855106 |
1405 | R>H | Intellectual disability Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2145765098 RCV003104062 |
1407 | K>T | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1601633708 RCV000825020 |
1411 | T>I | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV003313239 RCV001843903 rs887226313 RCV003401751 |
1412 | A>V | EP300-related condition Hepatoblastoma [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002534378 rs1569117388 |
1444 | D>G | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2145766562 RCV002251287 |
1447 | I>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1448116681 RCV002548646 |
1447 | I>V | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1555911313 CA411702200 RCV000509055 RCV000622438 |
1455 | Q>* | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555911316 CA645509364 RCV002461260 RCV000505218 |
1457 | I>M | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001843862 rs1487932572 |
1458 | P>S | Menke-Hennekam syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1601634247 TCGA novel RCV001027436 |
1464 | Q>* | Variant assessed as Somatic; HIGH impact. Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA Ensembl dbSNP |
|
COSM580210 RCV001733575 rs2145769934 |
1485 | D>Y | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar Ensembl dbSNP |
|
RCV001260707 rs2059176668 |
1495 | L>* | Intellectual disability [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
COSM4387473 rs1555911573 CA411702821 RCV000505247 |
1502 | P>L | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000490787 rs1114167306 CA411702855 |
1504 | F>C | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569118503 RCV002533496 |
1510 | P>R | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV003311974 rs763860567 RCV001374526 |
1511 | N>S | Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2059177123 RCV001266039 |
1526 | E>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000622598 CA658799555 rs1555911580 |
1527 | R>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs1569118537 RCV002245602 RCV001816716 COSM4385260 |
1529 | R>* | Variant assessed as Somatic; HIGH impact. Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
rs374162524 RCV003401676 RCV001764873 |
1542 | K>E | EP300-related condition [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000990456 rs1601636935 |
1565 | R>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10253502 rs144547088 RCV000592770 RCV002532479 |
1575 | N>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002573448 rs1480723806 |
1586 | A>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000433287 rs1057521737 CA16609101 RCV000454987 |
1588 | M>T | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002249938 rs1057517732 |
1595 | F>I | Colorectal cancer [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV003401394 RCV000624116 RCV000433095 RCV000509054 rs1057517732 RCV000414599 CA16043163 |
1595 | F>V | Multiple congenital anomalies Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Inborn genetic diseases EP300-related condition [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002560534 rs2145512052 |
1596 | F>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002553698 rs140154690 RCV003434391 |
1600 | L>V | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2145512343 RCV002561375 |
1612 | I>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA277265 RCV000194142 rs797045559 |
1613 | V>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV002551640 rs2145512676 |
1625 | D>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA273820 COSM1034571 rs139310551 RCV000162342 RCV003335149 |
1645 | R>* | Variant assessed as Somatic; HIGH impact. EP300-related disorders Rubinstein-Taybi syndrome due to EP300 haploinsufficiency endometrium urinary_tract [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA645294125 RCV000490773 rs1555912040 |
1653 | C>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV002536031 rs1601639332 |
1665 | R>H | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2059201116 RCV001763588 RCV003401685 |
1667 | V>L | EP300-related condition [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001262602 rs549834848 |
1698 | T>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs147676363 RCV002515849 CA158522 RCV000120725 RCV001640106 |
1716 | S>T | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA658799556 RCV000623464 rs1555912112 |
1724 | T>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV002471273 RCV002273562 rs2145515250 |
1749 | R>W | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2145515265 RCV001706822 |
1750 | N>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1569120861 RCV002532261 |
1808 | N>H | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1569120903 VAR_081986 RCV000757970 |
1824 | Q>P | Menke-Hennekam syndrome 2 MKHK2 [ClinVar, UniProt] | Yes |
ClinVar UniProt Ensembl dbSNP |
|
RCV001775441 rs2145516079 |
1829 | R>P | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000850550 rs1601639958 |
1831 | R>T | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000757971 rs1569120910 |
1831 | R>missing | Menke-Hennekam syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001775377 rs1379274045 |
1831 | R>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
| VAR_081987 | 1831 | R>del | MKHK2 [UniProt] | Yes | UniProt |
|
RCV000624435 rs1555912151 CA658799557 |
1853 | A>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001027437 rs1601640102 |
1860 | G>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs769796204 RCV002947795 |
1882 | S>G | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs146165770 CA158512 RCV000120720 RCV002515845 RCV000891041 |
1890 | T>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002535200 RCV002493335 RCV000731278 rs749979249 |
1895 | P>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM88785 CA10253695 RCV001252242 RCV000393455 rs140187237 RCV001253557 |
1904 | Q>P | Intellectual disability Rubinstein-Taybi syndrome due to EP300 haploinsufficiency haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555912182 RCV000509056 CA658653864 |
1909 | T>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs1601640370 RCV001027438 |
1917 | P>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1301825643 COSM1205372 RCV002642072 |
1936 | A>V | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001336370 rs1171171784 |
1947 | I>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001336369 rs977251718 |
1947 | I>V | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001541542 rs1301322622 RCV003426173 RCV002570647 |
1957 | P>S | Inborn genetic diseases EP300-related condition [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002516738 RCV000177531 CA243739 rs144626200 |
1986 | P>L | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs763795718 RCV002552364 |
1989 | M>I | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs2059210090 RCV001252240 |
1996 | S>T | Intellectual disability [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000656096 rs1210404526 CA411679955 |
2001 | P>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2059210417 RCV001261286 |
2005 | Q>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002554474 rs1351718424 |
2015 | M>V | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs199650847 CA10253778 RCV000624777 RCV003420079 RCV000900042 |
2031 | P>S | Inborn genetic diseases EP300-related condition [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2145519321 RCV001809083 |
2034 | G>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001289467 rs2059211409 |
2041 | L>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555912238 RCV000677431 |
2066 | Q>* | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002557796 COSM1471496 rs201569846 |
2088 | R>W | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Variant assessed as Somatic; MODERATE impact. prostate [ClinVar, NCI-TCGA, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1762014323 RCV002553513 |
2096 | N>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV002515846 rs200189212 CA158514 RCV001572184 RCV000120721 |
2097 | P>A | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs138584705 RCV002245818 |
2104 | P>R | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs755425119 RCV002555709 |
2106 | M>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2059213237 RCV001331932 |
2117 | T>I | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002548067 RCV002550286 rs755381839 |
2118 | M>V | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003103990 rs886057568 CA10653568 |
2125 | H>R | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs147973806 RCV001668271 RCV002515850 CA158524 RCV000120726 |
2130 | M>I | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001577747 RCV002573241 rs372874467 |
2136 | M>V | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000120722 RCV002515847 RCV001815235 CA158516 COSM4104440 rs587778258 |
2138 | A>V | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000661969 rs745528077 |
2146 | P>H | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV002544072 rs778354178 RCV001756817 |
2158 | M>T | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001554913 RCV002498559 RCV002517585 rs188035979 RCV000120718 CA158508 |
2161 | M>V | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002561393 rs5758252 |
2174 | T>A | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002520062 rs779543207 RCV003430871 RCV000501816 CA10253877 |
2176 | P>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000211093 rs875989807 CA10253887 |
2192 | Q>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs1358846937 RCV001027439 RCV003396617 |
2203 | P>A | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency EP300-related condition [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2059215587 RCV001265860 |
2204 | G>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000120716 rs587778256 RCV001722282 RCV002252064 RCV000490777 CA158504 RCV002518550 |
2209 | N>K | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001358594 RCV003169777 rs368554118 RCV003405599 |
2217 | V>I | Inborn genetic diseases EP300-related condition [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA250542 rs28937578 VAR_014431 RCV000007284 COSM96425 |
2221 | P>Q | Carcinoma of colon large_intestine a colorectal cancer sample [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001538102 CA147275 VAR_038377 rs1046088 RCV002514402 RCV000079681 |
2223 | Q>P | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000850393 rs1601641819 |
2231 | M>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003246994 RCV001596916 rs2145522210 |
2258 | Q>L | Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2059217082 RCV001331933 RCV003320825 |
2262 | Q>H | Menke-Hennekam syndrome 2 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV000394928 RCV001027440 RCV000120717 rs533875300 CA158506 RCV000514498 |
2268 | Q>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001336371 rs1386526100 |
2272 | P>L | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000193166 rs797045560 CA277090 |
2305 | N>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV002573172 RCV001562237 rs140300789 |
2306 | Q>R | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002548969 RCV003418349 rs145312648 COSM3740447 |
2308 | R>C | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency liver Variant assessed as Somatic; MODERATE impact. EP300-related condition [ClinVar, Cosmic, NCI-TCGA] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002562950 rs759647202 RCV003334060 |
2308 | R>H | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003405738 RCV001598296 rs137935821 |
2312 | P>S | EP300-related condition [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002554271 RCV003407915 rs201369756 |
2323 | P>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency EP300-related condition [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2059219404 RCV001265741 |
2330 | R>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000990457 rs1601642386 |
2338 | H>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002514629 rs558456063 CA158532 RCV000120730 |
2340 | V>I | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs147304540 RCV002535453 |
2357 | N>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2059220245 RCV001253334 |
2357 | N>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1263635747 RCV002265941 RCV001092854 |
2361 | Q>R | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001265732 rs2059220495 |
2366 | S>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003441707 RCV000007288 rs1569122847 |
2367 | P>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001250421 rs2059220693 |
2371 | S>T | Menke-Hennekam syndrome 2 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002549840 RCV001248837 rs768061933 RCV003411937 |
2372 | M>V | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency EP300-related condition [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003004997 rs886057571 RCV002996207 |
2379 | N>S | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs587778259 RCV002515848 RCV000120724 CA158520 |
2380 | P>L | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001908486 rs752065194 |
2385 | L>F | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV002562691 rs377508897 RCV003434270 |
2393 | L>V | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001809084 rs1424813619 |
2407 | S>L | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000416791 rs1057519375 CA16044144 |
2408 | Q>missing | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs748325077 RCV001839278 |
2409 | S>R | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs1329239009 RCV002562927 |
2415 | H>T | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1601642812 RCV001027441 |
2415 | H>W | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
| TCGA novel | 1 | M>? | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145665423 | 2 | A>G | No | Ensembl | |
| rs2145665423 | 2 | A>V | No | Ensembl | |
| rs2058682150 | 3 | E>D | No | TOPMed | |
| rs181951278 | 3 | E>Q | No | 1000Genomes | |
| rs2145665445 | 4 | N>I | No | Ensembl | |
| rs2145665440 | 4 | N>Y | No | Ensembl | |
| rs2145665458 | 6 | V>G | No | Ensembl | |
| rs2145665455 | 6 | V>L | No | Ensembl | |
| rs2145665455 | 6 | V>M | No | Ensembl | |
| rs2145665463 | 7 | E>A | No | Ensembl | |
| rs2145665463 | 7 | E>G | No | Ensembl | |
| rs2145665461 | 7 | E>Q | No | Ensembl | |
| rs2145665463 | 7 | E>V | No | Ensembl | |
| rs1601582416 | 8 | P>A | No | Ensembl | |
| rs760995545 | 8 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs760995545 | 8 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1601582416 | 8 | P>S | No | Ensembl | |
| rs2145665484 | 9 | G>A | No | Ensembl | |
| rs1264361255 | 9 | G>R | No | gnomAD | |
| rs1264361255 | 9 | G>W | No | gnomAD | |
| rs2145665490 | 10 | P>A | No | Ensembl | |
| rs764405219 | 10 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs764405219 | 10 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs2145665490 | 10 | P>T | No | Ensembl | |
| rs762278198 | 11 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs765627133 | 11 | P>H | No |
ExAC gnomAD |
|
| rs765627133 | 11 | P>L | No |
ExAC gnomAD |
|
| rs765627133 | 11 | P>R | No |
ExAC gnomAD |
|
| rs762278198 | 11 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs762278198 | 11 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs758786824 | 12 | S>* | No |
ExAC TOPMed gnomAD |
|
| rs758786824 | 12 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs2145665525 | 12 | S>P | No | Ensembl | |
| rs2145665525 | 12 | S>T | No | Ensembl | |
| rs767107086 | 13 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs767107086 | 13 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs2145665545 | 13 | A>P | No | Ensembl | |
| rs767107086 | 13 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs2145665564 | 14 | K>* | No | Ensembl | |
| rs2145665564 | 14 | K>E | No | Ensembl | |
| rs2145665571 | 14 | K>M | No | Ensembl | |
| rs2145665576 | 14 | K>N | No | Ensembl | |
| COSM1308201 | 14 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2145665571 | 14 | K>R | No | Ensembl | |
| rs2145665582 | 15 | R>P | No | Ensembl | |
| rs2145665582 | 15 | R>Q | No | Ensembl | |
| rs757059831 | 16 | P>A | No |
ExAC gnomAD |
|
| rs2145665599 | 16 | P>H | No | Ensembl | |
| rs2145665599 | 16 | P>L | No | Ensembl | |
| rs2145665599 | 16 | P>R | No | Ensembl | |
| rs757059831 | 16 | P>S | No |
ExAC gnomAD |
|
| rs757059831 | 16 | P>T | No |
ExAC gnomAD |
|
| rs2145665611 | 17 | K>* | No | Ensembl | |
|
COSM419540 rs2145665611 |
17 | K>E | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2145665617 | 17 | K>I | No | Ensembl | |
| rs2145665622 | 17 | K>N | No | Ensembl | |
| rs2145665611 | 17 | K>Q | No | Ensembl | |
| rs2145665617 | 17 | K>R | No | Ensembl | |
| rs2145665617 | 17 | K>T | No | Ensembl | |
| rs777392825 | 18 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs777392825 | 18 | L>I | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 18 | L>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs777392825 | 18 | L>V | No |
ExAC TOPMed gnomAD |
|
|
COSM4817436 rs2058682377 |
19 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
| rs2058682377 | 19 | S>L | No | TOPMed | |
| rs2145665635 | 19 | S>P | No | Ensembl | |
| rs1340956941 | 20 | S>C | No |
TOPMed gnomAD |
|
| rs1340956941 | 20 | S>F | No |
TOPMed gnomAD |
|
| rs2145665649 | 20 | S>T | No | Ensembl | |
| TCGA novel | 20 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3992197 | 21 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2145665670 | 21 | P>L | No | Ensembl | |
| rs2145665670 | 21 | P>Q | No | Ensembl | |
| rs2145665670 | 21 | P>R | No | Ensembl | |
| rs2058682425 | 22 | A>P | No | Ensembl | |
| rs2058682425 | 22 | A>S | No | Ensembl | |
| rs2058682425 | 22 | A>T | No | Ensembl | |
| rs755558514 | 22 | A>V | No |
TOPMed gnomAD |
|
| rs778522586 | 23 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs2145665700 | 23 | L>H | No | Ensembl | |
| rs778522586 | 23 | L>I | No |
ExAC TOPMed gnomAD |
|
| rs2145665700 | 23 | L>P | No | Ensembl | |
| rs373061594 | 24 | S>* | No |
ESP ExAC gnomAD |
|
| rs1555902247 | 24 | S>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs373061594 | 24 | S>L | No |
ESP ExAC gnomAD |
|
| rs1478987595 | 24 | S>P | No | TOPMed | |
| rs1478987595 | 24 | S>T | No | TOPMed | |
| rs373061594 | 24 | S>W | No |
ESP ExAC gnomAD |
|
| rs2145665733 | 25 | A>G | No | Ensembl | |
| rs775703248 | 25 | A>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs775703248 | 25 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs775703248 | 25 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs2145665733 | 25 | A>V | No | Ensembl | |
| rs2145665745 | 26 | S>A | No | Ensembl | |
| rs2145665751 | 26 | S>C | No | Ensembl | |
| rs2145665751 | 26 | S>F | No | Ensembl | |
| rs2145665745 | 26 | S>P | No | Ensembl | |
| rs2145665745 | 26 | S>T | No | Ensembl | |
| rs2145665751 | 26 | S>Y | No | Ensembl | |
| rs776993553 | 27 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs776993553 | 27 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs768794905 | 27 | A>P | No |
ExAC gnomAD |
|
| rs768794905 | 27 | A>T | No |
ExAC gnomAD |
|
| rs776993553 | 27 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs762091919 | 28 | S>C | No |
ExAC gnomAD |
|
| rs762091919 | 28 | S>G | No |
ExAC gnomAD |
|
| rs1382860268 | 28 | S>I | No |
TOPMed gnomAD |
|
| rs1382860268 | 28 | S>N | No |
TOPMed gnomAD |
|
| rs1443440938 | 28 | S>R | No | gnomAD | |
| rs762091919 | 28 | S>R | No |
ExAC gnomAD |
|
| rs1382860268 | 28 | S>T | No |
TOPMed gnomAD |
|
| rs1180540617 | 29 | D>E | No | gnomAD | |
| rs2145665807 | 29 | D>G | No | Ensembl | |
| rs2145665820 | 30 | G>A | No | Ensembl | |
| rs2145665814 | 30 | G>C | No | Ensembl | |
| rs2145665820 | 30 | G>D | No | Ensembl | |
| rs2145665814 | 30 | G>S | No | Ensembl | |
| rs2145665831 | 31 | T>A | No | Ensembl | |
| rs2145665839 | 31 | T>I | No | Ensembl | |
| rs2145665839 | 31 | T>K | No | Ensembl | |
| rs2145665831 | 31 | T>P | No | Ensembl | |
| rs2145665839 | 31 | T>R | No | Ensembl | |
| rs2145665831 | 31 | T>S | No | Ensembl | |
| rs1198218045 | 32 | D>H | No |
TOPMed gnomAD |
|
| rs1198218045 | 32 | D>N | No |
TOPMed gnomAD |
|
| rs1198218045 | 32 | D>Y | No |
TOPMed gnomAD |
|
| COSM3424202 | 33 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs764782074 | 34 | G>D | No |
ExAC gnomAD |
|
| rs764782074 | 34 | G>V | No |
ExAC gnomAD |
|
|
rs546292445 RCV000598410 CA10252190 |
35 | S>A | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs2145696247 | 38 | D>V | No | Ensembl | |
| rs2145696261 | 40 | E>* | No | Ensembl | |
| rs2145696267 | 40 | E>V | No | Ensembl | |
| rs2145696274 | 41 | H>D | No | Ensembl | |
| rs1430803896 | 42 | D>N | No |
TOPMed gnomAD |
|
| rs2145696301 | 44 | P>L | No | Ensembl | |
| rs2145696293 | 44 | P>S | No | Ensembl | |
| rs2145696293 | 44 | P>T | No | Ensembl | |
| rs2145696311 | 45 | D>H | No | Ensembl | |
|
RCV001797346 rs2145696320 |
46 | E>V | No |
ClinVar Ensembl dbSNP |
|
| rs2145696329 | 48 | I>V | No | Ensembl | |
| rs370385350 | 49 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs370385350 | 49 | N>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs550774953 | 50 | S>P | No |
TOPMed gnomAD |
|
| rs2145696342 | 50 | S>Y | No | Ensembl | |
| rs2058826373 | 51 | T>A | No |
TOPMed gnomAD |
|
| rs2058826373 | 51 | T>P | No |
TOPMed gnomAD |
|
| rs2145696360 | 54 | G>* | No | Ensembl | |
| rs749461224 | 54 | G>E | No |
ExAC gnomAD |
|
| rs2145696360 | 54 | G>R | No | Ensembl | |
| rs1407218539 | 55 | L>I | No |
TOPMed gnomAD |
|
| rs1407218539 | 55 | L>V | No |
TOPMed gnomAD |
|
| rs2145696382 | 58 | G>A | No | Ensembl | |
|
rs1569090280 RCV001765541 |
59 | G>R | No |
ClinVar Ensembl dbSNP |
|
| rs1569090280 | 59 | G>S | No | Ensembl | |
| rs1345203070 | 60 | D>G | No | gnomAD | |
| rs1569090284 | 60 | D>H | No | Ensembl | |
| COSM1034511 | 61 | I>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs760075261 | 61 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs774675956 | 61 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
|
rs2145696422 COSM88788 |
63 | Q>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
| rs2145696422 | 63 | Q>E | No | Ensembl | |
| rs772562025 | 63 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs776174730 | 64 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs776174730 | 64 | L>I | No |
ExAC TOPMed gnomAD |
|
| rs761323972 | 64 | L>R | No |
ExAC gnomAD |
|
|
COSM254671 rs2145696440 |
65 | Q>* | Variant assessed as Somatic; HIGH impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs764734253 | 65 | Q>P | No |
ExAC TOPMed gnomAD |
|
| rs750071278 | 66 | T>S | No |
ExAC gnomAD |
|
| rs2145696452 | 68 | L>V | No | Ensembl | |
| rs1305468663 | 69 | G>C | No | TOPMed | |
| rs1305468663 | 69 | G>S | No | TOPMed | |
| rs370355846 | 69 | G>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs766141187 | 70 | M>K | No |
ExAC gnomAD |
|
| rs766141187 | 70 | M>T | No |
ExAC gnomAD |
|
| rs1569090318 | 70 | M>V | No | TOPMed | |
|
COSM3785676 rs2145696474 |
71 | V>L | pancreas [Cosmic] | No |
cosmic curated Ensembl |
| rs2058826815 | 72 | Q>H | No | Ensembl | |
| TCGA novel | 73 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1350749198 | 74 | A>T | No | gnomAD | |
| rs2145696496 | 74 | A>V | No | Ensembl | |
| rs2145696504 | 75 | A>P | No | Ensembl | |
| TCGA novel | 75 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145696508 | 76 | S>C | No | Ensembl | |
| rs1046755467 | 77 | K>Q | No | Ensembl | |
| rs1440131696 | 78 | H>P | No | TOPMed | |
| rs2145696523 | 81 | L>M | No | Ensembl | |
| rs2058826931 | 82 | S>L | No | TOPMed | |
| rs2145696533 | 83 | E>K | No | Ensembl | |
| COSM280813 | 84 | L>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001008664 rs1601598122 COSM96440 |
86 | R>* | large_intestine [Cosmic] | No |
cosmic curated ClinVar Ensembl dbSNP |
| rs147121738 | 86 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM1416463 rs147121738 |
86 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs2145696558 | 88 | G>D | No | Ensembl | |
| TCGA novel | 89 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs749494612 | 89 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs2058827012 | 89 | S>R | No | TOPMed | |
| rs749494612 | 89 | S>T | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 90 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145696572 | 90 | S>F | No | Ensembl | |
|
rs1555905780 RCV001171561 |
91 | P>* | No |
ClinVar dbSNP |
|
| rs2058827085 | 91 | P>R | No |
TOPMed gnomAD |
|
| rs2145696596 | 92 | N>H | No | Ensembl | |
| rs141065784 | 93 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs769207085 | 94 | N>D | No |
ExAC gnomAD |
|
| rs1392142896 | 94 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1290523966 | 95 | M>V | No | gnomAD | |
| rs2145696625 | 96 | G>* | No | Ensembl | |
| rs779548244 | 96 | G>A | No |
TOPMed gnomAD |
|
| rs779548244 | 96 | G>E | No |
TOPMed gnomAD |
|
| rs2145696625 | 96 | G>R | No | Ensembl | |
| rs2145696634 | 97 | V>I | No | Ensembl | |
| rs2145696634 | 97 | V>L | No | Ensembl | |
| rs772759955 | 98 | G>V | No |
ExAC gnomAD |
|
| rs2145696644 | 99 | G>D | No | Ensembl | |
| rs1240357634 | 100 | P>S | No | gnomAD | |
| rs762557708 | 101 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs2145696669 | 103 | V>D | No | Ensembl | |
| TCGA novel | 103 | V>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs766053787 | 104 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs2058827322 | 104 | M>K | No |
TOPMed gnomAD |
|
| rs2058827322 | 104 | M>T | No |
TOPMed gnomAD |
|
| rs2058827305 | 104 | M>V | No | Ensembl | |
| rs2145696693 | 105 | A>D | No | Ensembl | |
| rs2145696684 | 105 | A>P | No | Ensembl | |
| rs2145696684 | 105 | A>T | No | Ensembl | |
| rs2145696693 | 105 | A>V | No | Ensembl | |
| rs759419651 | 106 | S>N | No |
ExAC gnomAD |
|
| rs2145696735 | 106 | S>R | No | Ensembl | |
| rs759419651 | 106 | S>T | No |
ExAC gnomAD |
|
|
RCV000479518 CA16621124 rs1064797038 |
107 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1064797038 | 107 | Q>E | No | Ensembl | |
| rs1064797038 | 107 | Q>K | No | Ensembl | |
| rs2145696747 | 107 | Q>P | No | Ensembl | |
| rs2145696759 | 108 | A>D | No | Ensembl | |
| rs2058827420 | 108 | A>T | No | TOPMed | |
| rs2145696759 | 108 | A>V | No | Ensembl | |
| rs2145696768 | 109 | Q>H | No | Ensembl | |
| rs2145696766 | 109 | Q>L | No | Ensembl | |
| rs573942111 | 110 | Q>H | No | gnomAD | |
| rs2145696772 | 110 | Q>K | No | Ensembl | |
| rs1343818300 | 110 | Q>R | No | TOPMed | |
| rs2145696782 | 111 | S>T | No | Ensembl | |
| rs752713674 | 112 | S>N | No |
ExAC gnomAD |
|
| rs752713674 | 112 | S>T | No |
ExAC gnomAD |
|
| rs2145696791 | 113 | P>A | No | Ensembl | |
| rs756031537 | 113 | P>L | No | ExAC | |
| rs2145696791 | 113 | P>T | No | Ensembl | |
| rs2145696804 | 114 | G>A | No | Ensembl | |
| rs2145696804 | 114 | G>E | No | Ensembl | |
| rs2145696799 | 114 | G>R | No | Ensembl | |
| rs2145696804 | 114 | G>V | No | Ensembl | |
| rs764120087 | 116 | G>A | No |
ExAC gnomAD |
|
| rs764120087 | 116 | G>D | No |
ExAC gnomAD |
|
| rs1320689399 | 116 | G>S | No | gnomAD | |
| rs764120087 | 116 | G>V | No |
ExAC gnomAD |
|
| rs2058827570 | 117 | L>M | No | TOPMed | |
| rs2058827570 | 117 | L>V | No | TOPMed | |
| rs753947066 | 118 | I>M | No |
ExAC gnomAD |
|
| rs2145696838 | 119 | N>K | No | Ensembl | |
| rs1303897359 | 120 | S>I | No |
TOPMed gnomAD |
|
| rs2145696845 | 120 | S>R | No | Ensembl | |
| rs1303897359 | 120 | S>T | No |
TOPMed gnomAD |
|
| rs1243111732 | 121 | M>T | No | gnomAD | |
| rs1384393301 | 121 | M>V | No | gnomAD | |
| rs2058827671 | 122 | V>A | No |
TOPMed gnomAD |
|
| rs2058827671 | 122 | V>D | No |
TOPMed gnomAD |
|
| rs1353971704 | 123 | K>R | No | gnomAD | |
| rs1225314246 | 124 | S>R | No | gnomAD | |
| rs746019881 | 126 | M>K | No |
ExAC TOPMed gnomAD |
|
| rs746019881 | 126 | M>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2145696873 | 127 | T>R | No | Ensembl | |
| rs2145696878 | 128 | Q>* | No | Ensembl | |
| rs1244840343 | 128 | Q>H | No | gnomAD | |
| rs149380994 | 128 | Q>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs149380994 | 128 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs780343901 | 129 | A>E | No |
ExAC gnomAD |
|
| rs780343901 | 129 | A>G | No |
ExAC gnomAD |
|
| rs2145696891 | 129 | A>T | No | Ensembl | |
| rs780343901 | 129 | A>V | No |
ExAC gnomAD |
|
| rs146327614 | 130 | G>A | No |
ESP ExAC gnomAD |
|
| rs146327614 | 130 | G>D | No |
ESP ExAC gnomAD |
|
| rs2145696908 | 131 | L>F | No | Ensembl | |
| rs748820102 | 132 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs1601598237 | 132 | T>I | No | Ensembl | |
| rs748820102 | 132 | T>P | No |
ExAC TOPMed gnomAD |
|
| rs748820102 | 132 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs2145696919 | 133 | S>F | No | Ensembl | |
| rs2145696930 | 134 | P>H | No | Ensembl | |
| rs2145696926 | 134 | P>T | No | Ensembl | |
| rs2145696935 | 135 | N>K | No | Ensembl | |
| rs1032496745 | 136 | M>L | No | gnomAD | |
| rs1032496745 | 136 | M>V | No | gnomAD | |
| rs770510487 | 137 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs770510487 | 137 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs770510487 | 137 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs2145696945 | 137 | G>W | No | Ensembl | |
| rs1601598245 | 138 | M>V | No | Ensembl | |
| rs2145696966 | 139 | G>D | No | Ensembl | |
| rs2145696962 | 139 | G>S | No | Ensembl | |
| rs1298489189 | 140 | T>A | No |
TOPMed gnomAD |
|
| rs2145696982 | 141 | S>N | No | Ensembl | |
| rs774152008 | 141 | S>R | No |
ExAC gnomAD |
|
| rs759225589 | 143 | P>A | No |
ExAC gnomAD |
|
| rs759225589 | 143 | P>S | No |
ExAC gnomAD |
|
| rs2145696995 | 144 | N>K | No | Ensembl | |
| rs372121861 | 144 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145697001 | 145 | Q>* | No | Ensembl | |
|
rs2145697001 RCV001767253 |
145 | Q>E | No |
ClinVar Ensembl dbSNP |
|
| rs760595859 | 146 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs760595859 | 146 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs775333441 | 146 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs775333441 | 146 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs760595859 | 146 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs2145697022 | 147 | P>L | No | Ensembl | |
| rs2145697018 | 147 | P>T | No | Ensembl | |
| rs764079704 | 148 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs753658203 | 148 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs764079704 | 148 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs758593351 | 150 | S>* | No |
ExAC TOPMed gnomAD |
|
| rs758593351 | 150 | S>L | No |
ExAC TOPMed gnomAD |
|
|
rs780440242 RCV001558084 |
151 | T>A | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2145697062 | 151 | T>I | No | Ensembl | |
| COSM5366488 | 152 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1485719131 | 152 | G>D | No |
TOPMed gnomAD |
|
| rs1485719131 | 152 | G>V | No |
TOPMed gnomAD |
|
| rs1312379259 | 153 | M>K | No | gnomAD | |
| rs1312379259 | 153 | M>T | No | gnomAD | |
| rs777895834 | 153 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs2145697082 | 154 | M>I | No | Ensembl | |
| rs112711413 | 154 | M>T | No | gnomAD | |
| rs2145697091 | 155 | N>I | No | Ensembl | |
| rs969563495 | 155 | N>Y | No | TOPMed | |
| rs1228235390 | 156 | S>G | No |
TOPMed gnomAD |
|
| rs2145697106 | 156 | S>N | No | Ensembl | |
| rs748538778 | 157 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs748538778 | 157 | P>S | No |
ExAC TOPMed gnomAD |
|
|
rs748538778 RCV001583018 |
157 | P>T | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1291675106 | 158 | V>G | No |
TOPMed gnomAD |
|
| rs2145697125 | 158 | V>I | No | Ensembl | |
| rs778517408 | 159 | N>D | No |
ExAC gnomAD |
|
| rs2145697142 | 160 | Q>* | No | Ensembl | |
| rs991305995 | 160 | Q>R | No | gnomAD | |
| rs745566349 | 161 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs775206469 | 161 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs745566349 | 161 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs2145697185 | 162 | A>D | No | Ensembl | |
| rs928099098 | 162 | A>P | No | Ensembl | |
| rs928099098 | 162 | A>T | No | Ensembl | |
|
TCGA novel rs2145697185 |
162 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs754310554 | 163 | M>V | No |
TOPMed gnomAD |
|
| rs148575477 | 164 | G>* | No |
1000Genomes ExAC gnomAD |
|
| rs1437011115 | 164 | G>A | No | gnomAD | |
| rs1437011115 | 164 | G>E | No | gnomAD | |
| rs148575477 | 164 | G>R | No |
1000Genomes ExAC gnomAD |
|
|
RCV000498309 CA411680919 rs1343346566 |
165 | M>I | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| COSM478996 | 166 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs776659580 | 167 | T>A | No | ExAC | |
| rs757808968 | 168 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs757808968 | 168 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs2058828654 | 168 | G>R | No | TOPMed | |
| rs1258577838 | 169 | M>L | No | gnomAD | |
| rs533349187 | 171 | A>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs533349187 | 171 | A>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2058828746 | 171 | A>T | No | Ensembl | |
| rs533349187 | 171 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs763232496 | 172 | G>A | No |
ExAC gnomAD |
|
| rs763232496 | 172 | G>D | No |
ExAC gnomAD |
|
| rs2145697261 | 172 | G>S | No | Ensembl | |
| rs763232496 | 172 | G>V | No |
ExAC gnomAD |
|
| rs2145697278 | 173 | M>I | No | Ensembl | |
| rs766614618 | 173 | M>L | No |
ExAC gnomAD |
|
| rs766614618 | 173 | M>V | No |
ExAC gnomAD |
|
| rs1200338622 | 175 | P>L | No |
TOPMed gnomAD |
|
| rs2145697286 | 176 | G>R | No | Ensembl | |
| rs2058828858 | 177 | M>I | No | TOPMed | |
| rs1064797288 | 179 | A>D | No |
TOPMed gnomAD |
|
|
RCV000488176 CA16621795 rs1064797288 |
179 | A>G | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs569450790 | 179 | A>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs569450790 | 179 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs569450790 | 179 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1064797288 | 179 | A>V | No |
TOPMed gnomAD |
|
| rs2145697318 | 180 | A>E | No | Ensembl | |
| rs2145697318 | 180 | A>G | No | Ensembl | |
| rs781372388 | 180 | A>P | No |
ExAC gnomAD |
|
| rs781372388 | 180 | A>T | No |
ExAC gnomAD |
|
| rs2145697318 | 180 | A>V | No | Ensembl | |
| rs372409067 | 181 | G>D | No |
ESP TOPMed gnomAD |
|
| rs778607317 | 182 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs778607317 | 182 | N>H | No |
ExAC TOPMed gnomAD |
|
|
RCV001557943 rs201487387 |
182 | N>S | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| COSM1566443 | 184 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2145697360 | 184 | Q>E | No | Ensembl | |
| rs943739309 | 184 | Q>R | No | Ensembl | |
| rs2145697368 | 185 | G>R | No | Ensembl | |
| rs1261239678 | 186 | I>M | No |
TOPMed gnomAD |
|
| rs2058829125 | 186 | I>T | No | TOPMed | |
| rs1485538679 | 186 | I>V | No | TOPMed | |
| rs2145697388 | 187 | M>I | No | Ensembl | |
| rs2145697400 | 188 | P>H | No | Ensembl | |
| rs2145697395 | 188 | P>S | No | Ensembl | |
| rs2058829160 | 190 | Q>* | No | Ensembl | |
| rs2058829160 | 190 | Q>E | No | Ensembl | |
| rs2058829160 | 190 | Q>K | No | Ensembl | |
|
rs199653514 RCV000734261 |
190 | Q>R | No |
ClinVar Ensembl dbSNP |
|
| rs2145697438 | 192 | M>I | No | Ensembl | |
|
RCV000357243 CA10252278 rs771650739 |
192 | M>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs771650739 | 192 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs996577997 | 194 | G>S | No | TOPMed | |
| rs1278810097 | 194 | G>V | No | gnomAD | |
| rs768515859 | 196 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs2145697479 | 197 | G>E | No | Ensembl | |
| rs2058829299 | 197 | G>R | No | Ensembl | |
| rs2145697479 | 197 | G>V | No | Ensembl | |
| rs2145697488 | 198 | A>T | No | Ensembl | |
| rs2145697496 | 198 | A>V | No | Ensembl | |
| rs761775649 | 199 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs761775649 | 199 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs769721953 | 200 | R>G | No | ExAC | |
| rs573151834 | 200 | R>Q | No | gnomAD | |
|
rs2145697523 TCGA novel |
201 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2145697529 | 202 | R>* | No | Ensembl | |
| rs773342339 | 202 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs773342339 | 202 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs2145697540 | 203 | Q>E | No | Ensembl | |
| rs1409497107 | 203 | Q>P | No |
TOPMed gnomAD |
|
| rs1380599822 | 204 | N>D | No |
TOPMed gnomAD |
|
| rs766306644 | 205 | M>I | No |
ExAC gnomAD |
|
| rs763036895 | 205 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs2145697564 | 206 | Q>* | No | Ensembl | |
| rs759630933 | 207 | Y>* | No |
ExAC TOPMed gnomAD |
|
| COSM4104427 | 207 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs548993665 | 207 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA gnomAD |
| rs2145697581 | 209 | N>K | No | Ensembl | |
| rs1372005603 | 210 | P>A | No | gnomAD | |
| rs1372005603 | 210 | P>S | No | gnomAD | |
| rs758521101 | 211 | G>A | No | Ensembl | |
| rs758521101 | 211 | G>D | No | Ensembl | |
| rs142030651 | 211 | G>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2145697612 | 212 | M>I | No | Ensembl | |
| rs753081561 | 212 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs778437552 | 212 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs753081561 | 212 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs2145697622 | 213 | G>E | No | Ensembl | |
| rs2058829590 | 214 | S>N | No | Ensembl | |
| rs2145697630 | 214 | S>R | No | Ensembl | |
| rs2145697631 | 215 | A>T | No | Ensembl | |
| rs1190487041 | 215 | A>V | No | TOPMed | |
| rs890265112 | 216 | G>C | No | TOPMed | |
| rs2145697640 | 216 | G>D | No | Ensembl | |
| rs890265112 | 216 | G>S | No | TOPMed | |
| rs1386790465 | 217 | N>K | No |
TOPMed gnomAD |
|
| rs139130083 | 217 | N>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| COSM4396197 | 219 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1601598539 | 220 | T>I | No | gnomAD | |
| rs2145697662 | 221 | E>G | No | Ensembl | |
| rs2145697668 | 222 | P>S | No | Ensembl | |
| rs2145697668 | 222 | P>T | No | Ensembl | |
| rs746720991 | 223 | L>V | No |
ExAC TOPMed gnomAD |
|
| COSM5647886 | 224 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2058829754 | 224 | Q>H | No | Ensembl | |
| rs781104062 | 226 | G>C | No |
ExAC TOPMed gnomAD |
|
| rs2145697691 | 226 | G>D | No | Ensembl | |
| rs773141352 | 227 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs773141352 | 227 | S>F | No |
ExAC TOPMed gnomAD |
|
| rs769525170 | 227 | S>P | No | ExAC | |
| rs553326360 | 229 | Q>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2058829852 | 229 | Q>R | No |
TOPMed gnomAD |
|
| rs2058829904 | 230 | M>T | No | TOPMed | |
| rs1487016165 | 230 | M>V | No | gnomAD | |
| rs1261612920 | 232 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2145697723 | 232 | G>R | No | Ensembl | |
| rs759842808 | 234 | T>I | No |
ExAC gnomAD |
|
| rs1408853234 | 235 | G>A | No | gnomAD | |
| rs1408853234 | 235 | G>V | No | gnomAD | |
| rs2145697757 | 236 | L>F | No | Ensembl | |
| rs370931638 | 236 | L>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs2058829996 | 237 | R>G | No | TOPMed | |
| rs2145697770 | 237 | R>I | No | Ensembl | |
| rs2145697770 | 237 | R>K | No | Ensembl | |
| rs2145697770 | 237 | R>T | No | Ensembl | |
| rs2145697775 | 238 | G>C | No | Ensembl | |
| rs761125378 | 238 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs2145697775 | 238 | G>S | No | Ensembl | |
|
RCV001568503 rs764511770 |
239 | P>A | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs764511770 | 239 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs2058830075 | 241 | P>S | No | Ensembl | |
| rs971363378 | 242 | L>P | No |
TOPMed gnomAD |
|
| rs2145697810 | 242 | L>V | No | Ensembl | |
| rs892155080 | 243 | K>E | No |
TOPMed gnomAD |
|
| rs2145707390 | 244 | M>I | No | Ensembl | |
| rs201264432 | 244 | M>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1171207318 | 244 | M>T | No |
TOPMed gnomAD |
|
| rs201264432 | 244 | M>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2145707391 | 245 | G>* | No | Ensembl | |
| rs2058879102 | 245 | G>E | No | Ensembl | |
| rs2145707391 | 245 | G>R | No | Ensembl | |
| rs2058879102 | 245 | G>V | No | Ensembl | |
| rs2145707410 | 246 | M>I | No | Ensembl | |
| rs2145707403 | 246 | M>K | No | Ensembl | |
| rs2145707419 | 247 | M>I | No | Ensembl | |
| rs2058879142 | 247 | M>T | No | gnomAD | |
| rs777191526 | 248 | N>H | No |
ExAC TOPMed gnomAD |
|
| rs762095513 | 248 | N>I | No |
ExAC gnomAD |
|
| rs2145707432 | 248 | N>K | No | Ensembl | |
| rs762095513 | 248 | N>S | No |
ExAC gnomAD |
|
|
rs762095513 COSM1734466 |
248 | N>T | pancreas [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs777191526 | 248 | N>Y | No |
ExAC TOPMed gnomAD |
|
| rs2145707442 | 249 | N>D | No | Ensembl | |
|
rs200732771 RCV001769342 |
249 | N>I | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1240905652 | 249 | N>K | No |
TOPMed gnomAD |
|
|
COSM1034513 rs200732771 |
249 | N>S | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs200732771 | 249 | N>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2145707442 | 249 | N>Y | No | Ensembl | |
| rs2145707456 | 250 | P>A | No | Ensembl | |
| rs2058879222 | 250 | P>H | No | Ensembl | |
| rs2058879222 | 250 | P>L | No | Ensembl | |
| rs2145707456 | 250 | P>S | No | Ensembl | |
| rs2145707456 | 250 | P>T | No | Ensembl | |
| rs2145707473 | 251 | N>H | No | Ensembl | |
| rs142009367 | 251 | N>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145707481 | 251 | N>K | No | Ensembl | |
| rs2058879276 | 252 | P>L | No | Ensembl | |
| rs2145707498 | 253 | Y>C | No | Ensembl | |
| rs2145707498 | 253 | Y>F | No | Ensembl | |
| rs1281969693 | 253 | Y>H | No |
TOPMed gnomAD |
|
| rs2058879325 | 254 | G>A | No | Ensembl | |
| rs2145707504 | 254 | G>C | No | Ensembl | |
| rs2058879325 | 254 | G>D | No | Ensembl | |
| rs2145707504 | 254 | G>R | No | Ensembl | |
| rs2058879325 | 254 | G>V | No | Ensembl | |
| rs767063384 | 255 | S>* | No |
ExAC TOPMed gnomAD |
|
| rs763471903 | 255 | S>A | No |
ExAC TOPMed gnomAD |
|
| rs767063384 | 255 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs763471903 | 255 | S>P | No |
ExAC TOPMed gnomAD |
|
| rs763471903 | 255 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs2145707532 | 256 | P>A | No | Ensembl | |
| rs1038337705 | 256 | P>L | No |
TOPMed gnomAD |
|
| rs1038337705 | 256 | P>Q | No |
TOPMed gnomAD |
|
| rs1038337705 | 256 | P>R | No |
TOPMed gnomAD |
|
| rs2145707532 | 256 | P>S | No | Ensembl | |
| rs2145707532 | 256 | P>T | No | Ensembl | |
| rs980878885 | 257 | Y>F | No | TOPMed | |
| rs2145707563 | 257 | Y>* | No | Ensembl | |
| rs980878885 | 257 | Y>C | No | TOPMed | |
| COSM727034 | 257 | Y>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2145707553 | 257 | Y>H | No | Ensembl | |
| rs2145707553 | 257 | Y>N | No | Ensembl | |
| rs201804130 | 258 | T>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs763723986 | 258 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs201804130 | 258 | T>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs763723986 | 258 | T>S | No |
ExAC TOPMed gnomAD |
|
|
rs2145707591 COSM3842758 |
259 | Q>* | Variant assessed as Somatic; HIGH impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2145707591 | 259 | Q>E | No | Ensembl | |
| rs2145707600 | 259 | Q>H | No | Ensembl | |
| rs2145707595 | 259 | Q>L | No | Ensembl | |
| rs2145707595 | 259 | Q>R | No | Ensembl | |
| rs2145707604 | 260 | N>D | No | Ensembl | |
| rs2145707609 | 260 | N>I | No | Ensembl | |
| rs2145707613 | 260 | N>K | No | Ensembl | |
| rs2145707604 | 260 | N>Y | No | Ensembl | |
| rs2058879541 | 261 | P>H | No | Ensembl | |
| rs2058879541 | 261 | P>L | No | Ensembl | |
| rs2058879541 | 261 | P>R | No | Ensembl | |
| rs2145707620 | 262 | G>* | No | Ensembl | |
| rs2145707624 | 262 | G>A | No | Ensembl | |
| rs2145707624 | 262 | G>E | No | Ensembl | |
| rs2145707620 | 262 | G>R | No | Ensembl | |
| rs2145707624 | 262 | G>V | No | Ensembl | |
| rs757031877 | 263 | Q>* | No |
ExAC gnomAD |
|
| rs757031877 | 263 | Q>E | No |
ExAC gnomAD |
|
| rs1486160406 | 263 | Q>H | No | gnomAD | |
| rs757031877 | 263 | Q>K | No |
ExAC gnomAD |
|
| rs144192540 | 263 | Q>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs144192540 | 263 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145707648 | 264 | Q>* | No | Ensembl | |
| rs2145707648 | 264 | Q>E | No | Ensembl | |
| rs1188127391 | 264 | Q>H | No |
TOPMed gnomAD |
|
| rs2145707648 | 264 | Q>K | No | Ensembl | |
| rs2145707653 | 264 | Q>P | No | Ensembl | |
| rs2145707653 | 264 | Q>R | No | Ensembl | |
| rs2058879664 | 265 | I>M | No | TOPMed | |
| rs2145707663 | 265 | I>N | No | Ensembl | |
| rs2145707663 | 265 | I>S | No | Ensembl | |
| rs2145707663 | 265 | I>T | No | Ensembl | |
| rs750375875 | 265 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1455641299 | 266 | G>* | No | Ensembl | |
| rs758375862 | 266 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs758375862 | 266 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs1455641299 | 266 | G>R | No | Ensembl | |
| rs758375862 | 266 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs2145707681 | 267 | A>D | No | Ensembl | |
| rs2145707681 | 267 | A>G | No | Ensembl | |
| rs2145707681 | 267 | A>V | No | Ensembl | |
| rs780344392 | 268 | S>C | No |
ExAC gnomAD |
|
| rs780344392 | 268 | S>G | No |
ExAC gnomAD |
|
| rs2145707696 | 268 | S>N | No | Ensembl | |
| rs2145707706 | 268 | S>R | No | Ensembl | |
| rs2145707696 | 268 | S>T | No | Ensembl | |
| rs2058879757 | 269 | G>A | No | TOPMed | |
| rs971825049 | 269 | G>C | No | Ensembl | |
| rs2058879757 | 269 | G>D | No | TOPMed | |
| rs971825049 | 269 | G>R | No | Ensembl | |
| rs971825049 | 269 | G>S | No | Ensembl | |
| rs2058879757 | 269 | G>V | No | TOPMed | |
| rs550476180 | 270 | L>F | No |
ExAC gnomAD |
|
| rs550476180 | 270 | L>I | No |
ExAC gnomAD |
|
| rs781277803 | 270 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs781277803 | 270 | L>R | No |
ExAC TOPMed gnomAD |
|
| rs550476180 | 270 | L>V | No |
ExAC gnomAD |
|
| rs544515301 | 271 | G>A | No |
1000Genomes ExAC gnomAD |
|
| rs1203084918 | 271 | G>C | No |
TOPMed gnomAD |
|
| rs544515301 | 271 | G>D | No |
1000Genomes ExAC gnomAD |
|
| rs1203084918 | 271 | G>R | No |
TOPMed gnomAD |
|
| rs1203084918 | 271 | G>S | No |
TOPMed gnomAD |
|
| rs544515301 | 271 | G>V | No |
1000Genomes ExAC gnomAD |
|
| rs2145707754 | 272 | L>F | No | Ensembl | |
| rs2145707754 | 272 | L>I | No | Ensembl | |
| rs2145707754 | 272 | L>V | No | Ensembl | |
| rs2145707760 | 273 | Q>* | No | Ensembl | |
| rs2145707760 | 273 | Q>E | No | Ensembl | |
| rs1291106008 | 273 | Q>H | No | gnomAD | |
| rs2145707760 | 273 | Q>K | No | Ensembl | |
| rs2145707765 | 273 | Q>L | No | Ensembl | |
| rs2145707765 | 273 | Q>R | No | Ensembl | |
| rs2145707774 | 274 | I>F | No | Ensembl | |
| rs2145707774 | 274 | I>L | No | Ensembl | |
| rs2145707779 | 274 | I>N | No | Ensembl | |
| rs2145707779 | 274 | I>S | No | Ensembl | |
| rs2145707779 | 274 | I>T | No | Ensembl | |
| rs1226998471 | 275 | Q>* | No | gnomAD | |
| rs1226998471 | 275 | Q>E | No | gnomAD | |
| rs149058635 | 275 | Q>H | No |
1000Genomes ExAC gnomAD |
|
| rs1226998471 | 275 | Q>K | No | gnomAD | |
| rs2145707791 | 275 | Q>L | No | Ensembl | |
| rs2145707791 | 275 | Q>R | No | Ensembl | |
| rs2145707805 | 276 | T>A | No | Ensembl | |
| rs747526162 | 276 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs2145707805 | 276 | T>S | No | Ensembl | |
| rs2145707813 | 277 | K>* | No | Ensembl | |
| rs2145707820 | 277 | K>I | No | Ensembl | |
| rs2145707823 | 277 | K>N | No | Ensembl | |
| rs2145707827 | 278 | T>I | No | Ensembl | |
| rs2145707827 | 278 | T>N | No | Ensembl | |
| rs2145707824 | 278 | T>S | No | Ensembl | |
| rs2145707827 | 278 | T>S | No | Ensembl | |
| rs2145707860 | 279 | V>A | No | Ensembl | |
| rs2145707860 | 279 | V>E | No | Ensembl | |
| rs2145707860 | 279 | V>G | No | Ensembl | |
| rs2145707847 | 279 | V>I | No | Ensembl | |
| rs2145707847 | 279 | V>L | No | Ensembl | |
| rs2145707868 | 280 | L>I | No | Ensembl | |
| rs763554446 | 280 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs2145707868 | 280 | L>V | No | Ensembl | |
|
rs2145707882 COSM4818071 |
281 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA Cosmic |
| rs2145707882 | 281 | S>L | No | Ensembl | |
| rs2145707879 | 281 | S>P | No | Ensembl | |
| rs2145707879 | 281 | S>T | No | Ensembl | |
| rs2145707890 | 282 | N>I | No | Ensembl | |
| rs2145707897 | 282 | N>K | No | Ensembl | |
| rs2145707890 | 282 | N>S | No | Ensembl | |
| rs2145707887 | 282 | N>Y | No | Ensembl | |
| rs2145707906 | 283 | N>I | No | Ensembl | |
| rs2145707906 | 283 | N>T | No | Ensembl | |
| rs2145707902 | 283 | N>Y | No | Ensembl | |
| rs2145707923 | 284 | L>F | No | Ensembl | |
| rs1240260385 | 284 | L>I | No | gnomAD | |
| rs2145707919 | 284 | L>S | No | Ensembl | |
| rs1240260385 | 284 | L>V | No | gnomAD | |
| rs761504502 | 285 | S>A | No |
ExAC TOPMed gnomAD |
|
| rs2145707930 | 285 | S>C | No | Ensembl | |
| rs2145707930 | 285 | S>F | No | Ensembl | |
| rs761504502 | 285 | S>P | No |
ExAC TOPMed gnomAD |
|
| rs761504502 | 285 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs2145707930 | 285 | S>Y | No | Ensembl | |
| rs2145707934 | 286 | P>A | No | Ensembl | |
| rs764980716 | 286 | P>L | No |
ExAC gnomAD |
|
| rs764980716 | 286 | P>Q | No |
ExAC gnomAD |
|
| rs764980716 | 286 | P>R | No |
ExAC gnomAD |
|
| rs2145707934 | 286 | P>S | No | Ensembl | |
| rs2145707934 | 286 | P>T | No | Ensembl | |
| rs1489771690 | 287 | F>C | No |
TOPMed gnomAD |
|
| rs2145707943 | 287 | F>I | No | Ensembl | |
| rs1489771690 | 287 | F>S | No |
TOPMed gnomAD |
|
| rs1489771690 | 287 | F>Y | No |
TOPMed gnomAD |
|
| rs2145707961 | 288 | A>D | No | Ensembl | |
| rs2145707961 | 288 | A>G | No | Ensembl | |
| rs2145707957 | 288 | A>P | No | Ensembl | |
| rs2145707957 | 288 | A>S | No | Ensembl | |
| rs2145707957 | 288 | A>T | No | Ensembl | |
| rs2145707961 | 288 | A>V | No | Ensembl | |
| rs2230111 | 289 | M>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2145707976 | 290 | D>A | No | Ensembl | |
| rs2145707978 | 290 | D>E | No | Ensembl | |
| rs2145707976 | 290 | D>G | No | Ensembl | |
| rs2145707973 | 290 | D>H | No | Ensembl | |
| rs2145707973 | 290 | D>N | No | Ensembl | |
| rs2145707976 | 290 | D>V | No | Ensembl | |
| rs2145707973 | 290 | D>Y | No | Ensembl | |
| rs2145707990 | 291 | K>N | No | Ensembl | |
| rs766430168 | 291 | K>R | No |
ExAC gnomAD |
|
| rs2145707997 | 292 | K>* | No | Ensembl | |
| rs2145707997 | 292 | K>E | No | Ensembl | |
| rs2145707999 | 292 | K>M | No | Ensembl | |
| rs2058880326 | 292 | K>N | No | TOPMed | |
| rs2145707997 | 292 | K>Q | No | Ensembl | |
| rs2145707999 | 292 | K>R | No | Ensembl | |
| rs2145708015 | 293 | A>G | No | Ensembl | |
| rs1413567720 | 293 | A>P | No | gnomAD | |
| rs1413567720 | 293 | A>S | No | gnomAD | |
| rs1413567720 | 293 | A>T | No | gnomAD | |
| rs2145708015 | 293 | A>V | No | Ensembl | |
| rs2145708031 | 294 | V>A | No | Ensembl | |
| rs2145708031 | 294 | V>D | No | Ensembl | |
| rs2145708031 | 294 | V>G | No | Ensembl | |
| rs751473003 | 294 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs751473003 | 294 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs2145708039 | 295 | P>A | No | Ensembl | |
| rs2145708046 | 295 | P>L | No | Ensembl | |
| rs2145708046 | 295 | P>R | No | Ensembl | |
| rs2145708039 | 295 | P>S | No | Ensembl | |
| rs2145708039 | 295 | P>T | No | Ensembl | |
| rs2145708053 | 296 | G>A | No | Ensembl | |
| rs2145708053 | 296 | G>D | No | Ensembl | |
| rs2145708049 | 296 | G>R | No | Ensembl | |
| rs2145708049 | 296 | G>S | No | Ensembl | |
| rs2145708053 | 296 | G>V | No | Ensembl | |
| rs910835301 | 297 | G>A | No | Ensembl | |
| rs910835301 | 297 | G>E | No | Ensembl | |
| rs2145708055 | 297 | G>R | No | Ensembl | |
| rs910835301 | 297 | G>V | No | Ensembl | |
| rs755143118 | 298 | G>* | No |
ExAC TOPMed gnomAD |
|
| rs2145708063 | 298 | G>A | No | Ensembl | |
| rs2145708063 | 298 | G>E | No | Ensembl | |
|
rs755143118 RCV002269788 |
298 | G>R | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2145708083 | 299 | M>I | No | Ensembl | |
| rs748371343 | 299 | M>K | No |
ExAC gnomAD |
|
| rs369047398 | 299 | M>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs748371343 | 299 | M>R | No |
ExAC gnomAD |
|
| rs748371343 | 299 | M>T | No |
ExAC gnomAD |
|
| rs369047398 | 299 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1414372233 | 300 | P>A | No |
TOPMed gnomAD |
|
| rs756328815 | 300 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs756328815 | 300 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs756328815 | 300 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1414372233 | 300 | P>S | No |
TOPMed gnomAD |
|
| rs1414372233 | 300 | P>T | No |
TOPMed gnomAD |
|
| rs2145708100 | 301 | N>H | No | Ensembl | |
| rs778066441 | 301 | N>I | No |
ExAC TOPMed gnomAD |
|
| rs1428592811 | 301 | N>K | No |
TOPMed gnomAD |
|
| rs778066441 | 301 | N>T | No |
ExAC TOPMed gnomAD |
|
| rs2145708100 | 301 | N>Y | No | Ensembl | |
| rs1326543363 | 302 | M>I | No | TOPMed | |
| rs2058880536 | 302 | M>K | No | TOPMed | |
| rs749640819 | 302 | M>L | No |
ExAC gnomAD |
|
| rs2058880536 | 302 | M>R | No | TOPMed | |
| rs749640819 | 302 | M>V | No |
ExAC gnomAD |
|
| rs78040870 | 304 | Q>H | No | TOPMed | |
| rs2145710016 | 305 | Q>* | No | Ensembl | |
| rs1432040176 | 305 | Q>H | No | gnomAD | |
| rs2145710024 | 306 | P>S | No | Ensembl | |
| rs2145710024 | 306 | P>T | No | Ensembl | |
| rs2145710028 | 307 | A>S | No | Ensembl | |
| rs1011229501 | 307 | A>V | No | gnomAD | |
| rs2058889862 | 309 | Q>E | No | TOPMed | |
| rs2058889897 | 309 | Q>H | No | TOPMed | |
| rs376152408 | 309 | Q>P | No | Ensembl | |
| rs2058889907 | 310 | V>F | No | TOPMed | |
| rs2058889907 | 310 | V>I | No | TOPMed | |
| rs769115484 | 311 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs2145710061 | 312 | Q>* | No | Ensembl | |
|
COSM1034515 rs1326401689 |
312 | Q>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs2145710061 | 312 | Q>K | No | Ensembl | |
| rs2058889995 | 312 | Q>L | No | TOPMed | |
| rs2058890033 | 313 | P>A | No | TOPMed | |
| rs1022243558 | 314 | G>A | No |
TOPMed gnomAD |
|
| rs1022243558 | 314 | G>D | No |
TOPMed gnomAD |
|
| rs2145710068 | 314 | G>R | No | Ensembl | |
| rs1304923544 | 315 | L>P | No |
TOPMed gnomAD |
|
| rs1304923544 | 315 | L>Q | No |
TOPMed gnomAD |
|
| rs2058890103 | 317 | T>I | No | gnomAD | |
| rs2145710092 | 317 | T>S | No | Ensembl | |
| rs2058890103 | 317 | T>S | No | gnomAD | |
| rs762647727 | 318 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs766329658 | 319 | V>F | No |
ExAC TOPMed gnomAD |
|
| rs766329658 | 319 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs1340107983 | 320 | A>P | No |
TOPMed gnomAD |
|
| TCGA novel | 320 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs759614013 | 322 | G>A | No |
ExAC gnomAD |
|
| rs759614013 | 322 | G>E | No |
ExAC gnomAD |
|
| TCGA novel | 322 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145710126 | 322 | G>W | No | Ensembl | |
| rs1255718743 | 323 | M>I | No |
TOPMed gnomAD |
|
| rs1211942176 | 323 | M>L | No |
TOPMed gnomAD |
|
| rs1211942176 | 323 | M>V | No |
TOPMed gnomAD |
|
| rs541738407 | 324 | G>D | No | 1000Genomes | |
| rs1243713911 | 325 | S>T | No |
TOPMed gnomAD |
|
| rs2058890308 | 326 | G>E | No | Ensembl | |
| rs1482954806 | 327 | A>T | No | gnomAD | |
|
rs2145710157 COSM1484261 |
327 | A>V | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs767477232 | 328 | H>R | No | ExAC | |
| COSM4104428 | 328 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs2145710174 RCV002214258 |
329 | T>A | No |
ClinVar Ensembl dbSNP |
|
| rs752520263 | 329 | T>R | No |
ExAC gnomAD |
|
| rs2145710186 | 330 | A>T | No | Ensembl | |
| rs2145710190 | 330 | A>V | No | Ensembl | |
| rs760816512 | 332 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs754108081 | 332 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs760816512 | 332 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs760816512 | 332 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2058890458 | 333 | E>D | No |
TOPMed gnomAD |
|
| rs2058890438 | 333 | E>G | No | gnomAD | |
| rs1684574085 | 335 | R>G | No | gnomAD | |
|
TCGA novel rs2145710215 |
335 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2145710223 | 336 | K>N | No | Ensembl | |
| rs1476082621 | 336 | K>R | No | gnomAD | |
| rs1166384976 | 338 | I>M | No | gnomAD | |
| rs1601604791 | 339 | Q>H | No | Ensembl | |
| rs2145710232 | 340 | Q>* | No | Ensembl | |
| rs2145710234 | 340 | Q>H | No | Ensembl | |
| rs2145710237 | 341 | Q>* | No | Ensembl | |
| rs2145710244 | 342 | L>F | No | Ensembl | |
| rs1279221081 | 346 | L>F | No |
TOPMed gnomAD |
|
|
RCV001772677 rs2145710261 |
347 | H>R | No |
ClinVar Ensembl dbSNP |
|
| rs2145710257 | 347 | H>Y | No | Ensembl | |
| rs1569096089 | 348 | A>S | No | gnomAD | |
| rs1569096089 | 348 | A>T | No | gnomAD | |
| rs2145710275 | 348 | A>V | No | Ensembl | |
| rs1186535377 | 349 | H>Q | No |
TOPMed gnomAD |
|
| rs1388226313 | 351 | C>* | No | gnomAD | |
|
rs1388226313 RCV002278943 |
351 | C>W | No |
ClinVar dbSNP gnomAD |
|
| rs2145710297 | 352 | Q>L | No | Ensembl | |
|
rs2145710304 RCV001774554 |
353 | R>C | No |
ClinVar Ensembl dbSNP |
|
| rs1386169409 | 353 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2058890680 | 354 | R>G | No | TOPMed | |
| TCGA novel | 354 | R>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2058890693 | 354 | R>L | No | Ensembl | |
| rs2058890693 | 354 | R>Q | No | Ensembl | |
| rs2058890680 | 354 | R>W | No | TOPMed | |
| rs2145710330 | 355 | E>K | No | Ensembl | |
| rs1555907278 | 356 | Q>E | No | Ensembl | |
| rs372759663 | 356 | Q>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs372759663 | 356 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs559888371 | 357 | A>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs559888371 | 357 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2145710349 | 357 | A>V | No | Ensembl | |
| rs754384744 | 358 | N>D | No | Ensembl | |
| rs2058890818 | 358 | N>S | No | Ensembl | |
| rs1569096128 | 359 | G>E | No | Ensembl | |
| rs1569096128 | 359 | G>V | No | Ensembl | |
| COSM3554881 | 360 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001769167 rs1341704749 |
361 | V>M | No |
ClinVar dbSNP gnomAD |
|
| TCGA novel | 363 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2058890907 | 363 | Q>E | No | TOPMed | |
| rs2058890907 | 363 | Q>K | No | TOPMed | |
| rs754944516 | 363 | Q>P | No | Ensembl | |
|
rs786205557 RCV000171356 CA236175 |
364 | C>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs2145710399 | 364 | C>Y | No | Ensembl | |
| rs747431211 | 365 | N>I | No |
ExAC TOPMed gnomAD |
|
| rs747431211 | 365 | N>T | No |
ExAC TOPMed gnomAD |
|
| rs2145710420 | 366 | L>I | No | Ensembl | |
| rs2145710428 | 367 | P>L | No | Ensembl | |
| rs777402829 | 370 | R>C | No |
ExAC TOPMed |
|
| rs777402829 | 370 | R>G | No |
ExAC TOPMed |
|
|
rs983340187 COSM4104429 |
370 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs983340187 | 370 | R>L | No |
TOPMed gnomAD |
|
| rs2145710454 | 372 | M>I | No | Ensembl | |
| rs1209797540 | 372 | M>V | No | gnomAD | |
| rs2145710456 | 375 | V>I | No | Ensembl | |
| TCGA novel | 381 | H>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM299838 rs2145710469 |
382 | C>Y | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs2058891088 | 383 | Q>R | No | TOPMed | |
| TCGA novel | 384 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1186117620 | 384 | S>L | No | gnomAD | |
| rs1444879613 | 385 | G>R | No | gnomAD | |
| rs779045912 | 386 | K>R | No | Ensembl | |
|
RCV000585153 rs1555907286 CA411684424 |
388 | C>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
| rs1555907286 | 388 | C>W | No | TOPMed | |
| rs1195950990 | 391 | A>G | No | gnomAD | |
| rs2058907556 | 391 | A>P | No | Ensembl | |
| rs2058907556 | 391 | A>S | No | Ensembl | |
| rs2058907556 | 391 | A>T | No | Ensembl | |
| rs1195950990 | 391 | A>V | No | gnomAD | |
| rs2145713385 | 392 | H>D | No | Ensembl | |
| rs765258195 | 392 | H>Q | No |
ExAC gnomAD |
|
| rs2145713385 | 392 | H>Y | No | Ensembl | |
| rs2145713409 | 393 | C>* | No | Ensembl | |
| rs2145713396 | 393 | C>S | No | Ensembl | |
| rs2145713402 | 393 | C>S | No | Ensembl | |
| rs2145713402 | 393 | C>Y | No | Ensembl | |
| rs2145713411 | 394 | A>P | No | Ensembl | |
| rs2145713411 | 394 | A>T | No | Ensembl | |
| rs2145713416 | 394 | A>V | No | Ensembl | |
| rs2145713427 | 395 | S>C | No | Ensembl | |
| rs2145713427 | 395 | S>F | No | Ensembl | |
| rs2145713422 | 395 | S>P | No | Ensembl | |
| rs2145713422 | 395 | S>T | No | Ensembl | |
| rs2145713439 | 396 | S>C | No | Ensembl | |
| rs2145713439 | 396 | S>F | No | Ensembl | |
| rs2145713439 | 396 | S>Y | No | Ensembl | |
| rs773503228 | 397 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs773503228 | 397 | R>G | No |
ExAC gnomAD |
|
| rs2145713455 | 397 | R>L | No | Ensembl | |
| rs2145713455 | 397 | R>P | No | Ensembl | |
|
rs2145713455 COSM1205366 |
397 | R>Q | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs2145713467 | 398 | Q>L | No | Ensembl | |
| rs2145713467 | 398 | Q>R | No | Ensembl | |
| rs763065341 | 399 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs2145713478 | 399 | I>N | No | Ensembl | |
| rs2145713487 | 400 | I>T | No | Ensembl | |
|
COSM4821120 rs2145713499 |
401 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA Cosmic |
| rs766810525 | 401 | S>A | No |
ExAC gnomAD |
|
| rs2145713499 | 401 | S>L | No | Ensembl | |
| rs2145713512 | 402 | H>D | No | Ensembl | |
| rs751869865 | 402 | H>Q | No |
ExAC gnomAD |
|
| rs2145713512 | 402 | H>Y | No | Ensembl | |
| rs2145713520 | 403 | W>* | No | Ensembl | |
| rs2145713527 | 403 | W>* | No | Ensembl | |
| rs2145713527 | 403 | W>C | No | Ensembl | |
| rs2145713520 | 403 | W>L | No | Ensembl | |
| rs2145713520 | 403 | W>S | No | Ensembl | |
| rs2145713531 | 404 | K>E | No | Ensembl | |
| rs2145713536 | 404 | K>N | No | Ensembl | |
| rs1485326129 | 405 | N>I | No |
TOPMed gnomAD |
|
| rs1242358857 | 405 | N>K | No | TOPMed | |
| rs1485326129 | 405 | N>S | No |
TOPMed gnomAD |
|
| rs2145713539 | 405 | N>Y | No | Ensembl | |
| rs2058907885 | 406 | C>* | No | gnomAD | |
| rs2145713555 | 406 | C>F | No | Ensembl | |
| rs2145713552 | 406 | C>S | No | Ensembl | |
| rs2145713555 | 406 | C>S | No | Ensembl | |
| rs2145713555 | 406 | C>Y | No | Ensembl | |
| rs2058907899 | 407 | T>A | No | Ensembl | |
| rs2145713579 | 407 | T>I | No | Ensembl | |
| rs2145713579 | 407 | T>R | No | Ensembl | |
| rs2058907899 | 407 | T>S | No | Ensembl | |
| rs2058907940 | 408 | R>* | No |
TOPMed gnomAD |
|
| rs2145713596 | 408 | R>K | No | Ensembl | |
| rs2145713603 | 408 | R>S | No | Ensembl | |
| rs2145713596 | 408 | R>T | No | Ensembl | |
| rs2145713608 | 409 | H>D | No | Ensembl | |
| rs2145713608 | 409 | H>N | No | Ensembl | |
| rs2058907979 | 409 | H>Q | No | TOPMed | |
| rs1466532504 | 409 | H>R | No |
TOPMed gnomAD |
|
| rs2145713625 | 410 | D>A | No | Ensembl | |
| rs2145713629 | 410 | D>E | No | Ensembl | |
| rs2145713621 | 410 | D>H | No | Ensembl | |
| rs2145713621 | 410 | D>N | No | Ensembl | |
| rs2145713625 | 410 | D>V | No | Ensembl | |
| rs2145713635 | 411 | C>S | No | Ensembl | |
| rs1465737142 | 411 | C>S | No | gnomAD | |
| rs2145713635 | 411 | C>Y | No | Ensembl | |
| rs2145713639 | 412 | P>A | No | Ensembl | |
| rs2145713646 | 412 | P>L | No | Ensembl | |
| rs2145713646 | 412 | P>R | No | Ensembl | |
| rs2145713639 | 412 | P>S | No | Ensembl | |
| rs2145713639 | 412 | P>T | No | Ensembl | |
| rs2145713664 | 413 | V>E | No | Ensembl | |
| rs2145713655 | 413 | V>L | No | Ensembl | |
| rs2145713655 | 413 | V>M | No | Ensembl | |
| rs2145713682 | 414 | C>* | No | Ensembl | |
| rs2145713672 | 414 | C>G | No | Ensembl | |
| rs2145713678 | 414 | C>S | No | Ensembl | |
| rs2145713672 | 414 | C>S | No | Ensembl | |
| rs2145713682 | 414 | C>W | No | Ensembl | |
| rs2145713678 | 414 | C>Y | No | Ensembl | |
| rs2145713688 | 415 | L>V | No | Ensembl | |
| rs2145713694 | 416 | P>A | No | Ensembl | |
| rs2145713696 | 416 | P>H | No | Ensembl | |
| rs2145713696 | 416 | P>L | No | Ensembl | |
| rs2145713696 | 416 | P>R | No | Ensembl | |
| rs2145713694 | 416 | P>T | No | Ensembl | |
| rs755604535 | 417 | L>F | No |
ExAC gnomAD |
|
| rs2145713719 | 417 | L>H | No | Ensembl | |
| rs755604535 | 417 | L>I | No |
ExAC gnomAD |
|
| rs755604535 | 417 | L>V | No |
ExAC gnomAD |
|
| rs2145713726 | 418 | K>* | No | Ensembl | |
| rs1601606215 | 418 | K>R | No | Ensembl | |
|
RCV001733442 rs2058908118 |
419 | N>D | No |
ClinVar TOPMed dbSNP |
|
| TCGA novel | 419 | N>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2058908153 | 419 | N>K | No | gnomAD | |
| TCGA novel | 419 | N>M | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1408353465 | 419 | N>T | No | gnomAD | |
| rs2145713745 | 420 | A>D | No | Ensembl | |
| rs2145713745 | 420 | A>G | No | Ensembl | |
| rs2145713741 | 420 | A>P | No | Ensembl | |
| rs2145713741 | 420 | A>T | No | Ensembl | |
| rs2145713745 | 420 | A>V | No | Ensembl | |
| rs2145713751 | 421 | G>A | No | Ensembl | |
| rs2145713749 | 421 | G>R | No | Ensembl | |
| rs2145713749 | 421 | G>S | No | Ensembl | |
| rs2145713751 | 421 | G>V | No | Ensembl | |
| rs2145713758 | 422 | D>E | No | Ensembl | |
| rs2145713754 | 422 | D>H | No | Ensembl | |
| rs2145713754 | 422 | D>N | No | Ensembl | |
| TCGA novel | 423 | K>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145713766 | 423 | K>E | No | Ensembl | |
| rs1308032551 | 423 | K>N | No | gnomAD | |
| rs2145713768 | 423 | K>R | No | Ensembl | |
| rs2145713774 | 424 | R>K | No | Ensembl | |
| rs2145713774 | 424 | R>T | No | Ensembl | |
| rs2145713780 | 425 | N>K | No | Ensembl | |
| rs1256617012 | 425 | N>S | No | Ensembl | |
| rs2145713785 | 426 | Q>E | No | Ensembl | |
| rs2145713794 | 427 | Q>* | No | Ensembl | |
| rs2145713794 | 427 | Q>E | No | Ensembl | |
| rs2058908242 | 427 | Q>H | No | gnomAD | |
| rs201341021 | 428 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs2145715436 | 428 | P>L | No | Ensembl | |
| rs201341021 | 428 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs201341021 | 428 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs571437585 | 429 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1569097978 | 430 | L>V | No | Ensembl | |
| rs1421345069 | 431 | T>A | No |
TOPMed gnomAD |
|
| rs1488235491 | 431 | T>I | No |
TOPMed gnomAD |
|
| rs1421345069 | 431 | T>S | No |
TOPMed gnomAD |
|
| rs1488235491 | 431 | T>S | No |
TOPMed gnomAD |
|
| rs1601607023 | 433 | A>S | No | Ensembl | |
| rs1043170222 | 434 | P>R | No | Ensembl | |
| rs1187171723 | 434 | P>S | No | gnomAD | |
| rs1378167419 | 435 | V>A | No | TOPMed | |
| rs779573838 | 435 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs2145715490 | 436 | G>A | No | Ensembl | |
| rs1200880655 | 437 | L>P | No |
TOPMed gnomAD |
|
| rs2058918645 | 438 | G>R | No | Ensembl | |
| rs2058918695 | 440 | P>H | No | TOPMed | |
| rs2058918731 | 441 | S>G | No | Ensembl | |
| rs2058918760 | 441 | S>T | No | Ensembl | |
| rs1250504736 | 442 | S>A | No |
TOPMed gnomAD |
|
|
RCV002251809 rs2145715515 |
443 | L>missing | No |
ClinVar dbSNP |
|
| rs1386270162 | 443 | L>I | No |
TOPMed gnomAD |
|
| rs1386270162 | 443 | L>V | No |
TOPMed gnomAD |
|
| rs1407415699 | 445 | V>E | No | gnomAD | |
| rs1407415699 | 445 | V>G | No | gnomAD | |
| rs368630029 | 445 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
|
TCGA novel rs368630029 |
445 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ESP ExAC TOPMed gnomAD |
| rs2145715541 | 446 | G>D | No | Ensembl | |
| rs780940794 | 447 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs2145715549 | 448 | Q>* | No | Ensembl | |
| rs1225951181 | 449 | S>P | No | TOPMed | |
|
COSM3842759 rs769721803 |
450 | A>V | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
rs151308825 RCV000897686 |
451 | P>A | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs140538515 | 451 | P>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs151308825 | 451 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs2058919025 | 452 | N>D | No | Ensembl | |
| rs2058919059 | 452 | N>K | No | TOPMed | |
| TCGA novel | 452 | N>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs774469864 | 452 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs774469864 | 452 | N>T | No |
ExAC TOPMed gnomAD |
|
| rs1315254953 | 453 | L>V | No | gnomAD | |
| rs759784538 | 454 | S>G | No |
ExAC gnomAD |
|
| rs2145715600 | 454 | S>R | No | Ensembl | |
| rs772616175 | 455 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs775990510 | 456 | V>I | No |
ExAC TOPMed gnomAD |
|
|
RCV001767557 rs2145715608 |
457 | S>N | No |
ClinVar Ensembl dbSNP |
|
| rs761319515 | 458 | Q>H | No |
ExAC gnomAD |
|
| rs764518848 | 459 | I>F | No |
ExAC gnomAD |
|
| rs764518848 | 459 | I>V | No |
ExAC gnomAD |
|
| rs2058919214 | 460 | D>E | No | Ensembl | |
| rs2145715618 | 460 | D>H | No | Ensembl | |
| rs2058919234 | 461 | P>H | No | TOPMed | |
| rs2058919234 | 461 | P>R | No | TOPMed | |
| rs372093137 | 462 | S>G | No |
ESP TOPMed gnomAD |
|
| rs2145715643 | 466 | R>* | No | Ensembl | |
| rs2058919302 | 467 | A>G | No |
TOPMed gnomAD |
|
| rs2058919302 | 467 | A>V | No |
TOPMed gnomAD |
|
| rs587778262 | 468 | Y>C | No |
TOPMed gnomAD |
|
|
RCV000120733 CA158538 rs587778262 |
468 | Y>F | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs2145715655 | 469 | A>V | No | Ensembl | |
| rs2145715663 | 470 | A>T | No | Ensembl | |
| rs2058919406 | 474 | P>L | No | TOPMed | |
| rs762400446 | 474 | P>T | No |
ExAC gnomAD |
|
| rs1474018422 | 476 | Q>K | No | gnomAD | |
| rs2145715683 | 477 | V>E | No | Ensembl | |
| rs2145715690 | 478 | N>K | No | Ensembl | |
| rs781034708 | 478 | N>S | No |
ExAC gnomAD |
|
| rs2145715691 | 479 | Q>* | No | Ensembl | |
| rs1161953844 | 479 | Q>H | No | gnomAD | |
| COSM1034517 | 479 | Q>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3842760 rs2145715700 |
480 | M>I | breast [Cosmic] | No |
cosmic curated Ensembl |
| rs1601607143 | 480 | M>K | No | Ensembl | |
|
rs1601607143 RCV000901700 |
480 | M>T | No |
ClinVar Ensembl dbSNP |
|
|
rs533244094 RCV000730620 |
481 | P>L | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs533244094 | 481 | P>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1410543176 | 481 | P>S | No |
TOPMed gnomAD |
|
| rs1410543176 | 481 | P>T | No |
TOPMed gnomAD |
|
| rs770942428 | 482 | T>I | No |
ExAC gnomAD |
|
| rs749213051 | 482 | T>P | No |
ExAC gnomAD |
|
| rs770942428 | 482 | T>R | No |
ExAC gnomAD |
|
| rs2145715728 | 483 | Q>* | No | Ensembl | |
| rs779031630 | 483 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs1373733990 | 484 | P>H | No |
TOPMed gnomAD |
|
| rs1373733990 | 484 | P>L | No |
TOPMed gnomAD |
|
| rs746157532 | 484 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs746157532 | 484 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs1395684400 | 485 | Q>H | No |
TOPMed gnomAD |
|
|
RCV000730042 rs772407988 |
485 | Q>K | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2145715754 | 485 | Q>R | No | Ensembl | |
| rs145739685 | 486 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145715763 | 487 | Q>* | No | Ensembl | |
| rs2145715765 | 488 | A>E | No | Ensembl | |
| rs1208185210 | 488 | A>T | No | gnomAD | |
| rs2145715765 | 488 | A>V | No | Ensembl | |
| rs761121417 | 489 | K>E | No | ExAC | |
| rs769024926 | 489 | K>N | No |
ExAC gnomAD |
|
| rs2145715778 | 490 | N>K | No | Ensembl | |
| rs2145715788 | 492 | Q>* | No | Ensembl | |
| rs1327757200 | 492 | Q>H | No | TOPMed | |
| rs200851376 | 493 | N>S | No |
TOPMed gnomAD |
|
| rs2145715793 | 493 | N>Y | No | Ensembl | |
| rs2145715806 | 494 | Q>H | No | Ensembl | |
| rs1208201455 | 494 | Q>R | No | gnomAD | |
| rs2145715814 | 495 | Q>* | No | Ensembl | |
| rs2145715814 | 495 | Q>K | No | Ensembl | |
| rs2058919933 | 496 | P>A | No | Ensembl | |
| rs886241076 | 497 | G>A | No |
TOPMed gnomAD |
|
| rs886241076 | 497 | G>V | No |
TOPMed gnomAD |
|
| rs2145715828 | 498 | Q>* | No | Ensembl | |
| rs777025732 | 499 | S>F | No |
ExAC gnomAD |
|
| rs2058920011 | 500 | P>A | No | Ensembl | |
| COSM3554882 | 500 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1484262 | 501 | Q>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1569098140 | 502 | G>D | No | Ensembl | |
| rs1004678987 | 502 | G>S | No | TOPMed | |
| rs762358333 | 503 | M>I | No |
ExAC gnomAD |
|
| rs1447654523 | 503 | M>L | No | TOPMed | |
| COSM3694077 | 504 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1016094137 | 504 | R>Q | No |
TOPMed gnomAD |
|
| rs551859098 | 504 | R>W | No |
1000Genomes ExAC gnomAD |
|
| rs2145715900 | 505 | P>H | No | Ensembl | |
| rs2145715900 | 505 | P>R | No | Ensembl | |
| rs2145715894 | 505 | P>S | No | Ensembl | |
| rs2145715894 | 505 | P>T | No | Ensembl | |
|
rs1601607265 RCV001008565 |
506 | M>missing | No |
ClinVar dbSNP |
|
| rs886057556 | 506 | M>L | No | TOPMed | |
| rs2145715918 | 507 | S>N | No | Ensembl | |
| rs528872126 | 508 | N>I | No | Ensembl | |
| rs1159111129 | 508 | N>K | No |
TOPMed gnomAD |
|
| rs528872126 | 508 | N>T | No | Ensembl | |
| rs752280089 | 509 | M>I | No |
ExAC gnomAD |
|
| rs1333033420 | 509 | M>L | No | gnomAD | |
| rs374245119 | 511 | A>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs374245119 | 511 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1601610210 | 512 | S>G | No | Ensembl | |
|
TCGA novel rs1471843291 |
513 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1471843291 | 513 | P>R | No |
TOPMed gnomAD |
|
| TCGA novel | 513 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs765266179 | 514 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs2058947592 | 515 | G>A | No | TOPMed | |
| rs1197538598 | 515 | G>R | No | gnomAD | |
| rs1601610243 | 516 | V>I | No | Ensembl | |
| rs1601610243 | 516 | V>L | No | Ensembl | |
| TCGA novel | 517 | N>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1450953457 | 520 | V>A | No | gnomAD | |
| rs569889324 | 520 | V>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 521 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1056486476 | 521 | G>V | No | Ensembl | |
| rs1186236584 | 522 | V>G | No |
TOPMed gnomAD |
|
| rs2145720630 | 523 | Q>H | No | Ensembl | |
| rs1389348879 | 523 | Q>K | No | gnomAD | |
|
rs1452596865 RCV001574063 |
524 | T>M | No |
ClinVar TOPMed dbSNP |
|
| rs781470107 | 525 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs781470107 | 525 | P>R | No |
ExAC TOPMed gnomAD |
|
|
rs886042427 RCV000296246 CA10604224 |
525 | P>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs2058947815 | 527 | L>F | No | TOPMed | |
| rs1194977637 | 527 | L>R | No |
TOPMed gnomAD |
|
| rs1365968069 | 528 | L>F | No | gnomAD | |
| rs1365968069 | 528 | L>I | No | gnomAD | |
| rs2145720668 | 528 | L>P | No | Ensembl | |
| rs1365968069 | 528 | L>V | No | gnomAD | |
| rs538308049 | 529 | S>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2058947909 | 530 | D>N | No | gnomAD | |
| TCGA novel | 531 | S>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145720688 | 531 | S>T | No | Ensembl | |
| rs771622894 | 532 | M>L | No |
ExAC gnomAD |
|
| TCGA novel | 532 | M>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774952188 RCV001771372 |
532 | M>T | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs771622894 | 532 | M>V | No |
ExAC gnomAD |
|
| rs890823217 | 534 | H>D | No |
TOPMed gnomAD |
|
| rs760313923 | 534 | H>L | No |
ExAC gnomAD |
|
| rs760313923 | 534 | H>R | No |
ExAC gnomAD |
|
| rs890823217 | 534 | H>Y | No |
TOPMed gnomAD |
|
| rs2145720706 | 536 | A>T | No | Ensembl | |
| rs1005332096 | 537 | I>M | No | Ensembl | |
| TCGA novel | 538 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1465825778 | 539 | S>C | No | gnomAD | |
| rs1304757773 | 542 | P>R | No | gnomAD | |
| rs2145722617 | 542 | P>T | No | Ensembl | |
| rs769750942 | 544 | M>L | No | ExAC | |
| rs773135785 | 545 | S>G | No |
ExAC gnomAD |
|
| rs547550163 | 545 | S>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs759693947 | 545 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs547550163 | 545 | S>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs1408462801 COSM1251229 |
546 | E>K | oesophagus [Cosmic] | No |
cosmic curated gnomAD |
| rs1441399138 | 548 | A>V | No |
TOPMed gnomAD |
|
| rs767446971 | 549 | S>G | No |
ExAC gnomAD |
|
| rs753017200 | 549 | S>N | No |
ExAC gnomAD |
|
| rs756301077 | 549 | S>R | No |
ExAC gnomAD |
|
| rs778180439 | 550 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs2145722673 | 550 | V>M | No | Ensembl | |
| rs1481865764 | 551 | P>A | No |
TOPMed gnomAD |
|
| TCGA novel | 551 | P>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2058959745 | 551 | P>L | No | gnomAD | |
|
COSM1205370 rs1481865764 |
551 | P>S | large_intestine [Cosmic] | No |
cosmic curated TOPMed gnomAD |
|
rs587778263 RCV000120735 CA158542 |
552 | S>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2058959778 | 553 | L>V | No | TOPMed | |
| rs754192020 | 554 | G>C | No |
ExAC gnomAD |
|
| rs1205592710 | 555 | P>H | No | gnomAD | |
|
COSM3554883 rs1205592710 |
555 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1462894661 | 556 | M>T | No | TOPMed | |
| rs779503787 | 556 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs1266602071 | 557 | P>L | No | TOPMed | |
| rs2145722715 | 557 | P>S | No | Ensembl | |
| rs897501495 | 559 | A>P | No |
TOPMed gnomAD |
|
| rs897501495 | 559 | A>T | No |
TOPMed gnomAD |
|
| rs2145722735 | 559 | A>V | No | Ensembl | |
| rs1433822758 | 560 | A>T | No | gnomAD | |
| COSM4300068 | 561 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs374523754 | 561 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145722751 | 562 | P>Q | No | Ensembl | |
| rs1423561729 | 562 | P>S | No | gnomAD | |
| rs2145722755 | 563 | S>Y | No | Ensembl | |
| rs1434555035 | 564 | T>A | No |
TOPMed gnomAD |
|
| rs1315952738 | 564 | T>N | No | TOPMed | |
| rs769554031 | 565 | T>A | No |
ExAC gnomAD |
|
| rs1027406489 | 565 | T>I | No | TOPMed | |
| rs1027406489 | 565 | T>S | No | TOPMed | |
| rs2058960092 | 566 | G>E | No | Ensembl | |
| rs1372753839 | 567 | I>V | No |
TOPMed gnomAD |
|
| rs953144031 | 568 | R>Q | No |
TOPMed gnomAD |
|
|
rs1046073854 COSM187709 |
568 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
| rs2145722775 | 570 | Q>* | No | Ensembl | |
| rs1298081293 | 570 | Q>R | No |
TOPMed gnomAD |
|
| rs1388005979 | 572 | H>R | No | gnomAD | |
| rs926253992 | 573 | E>K | No |
TOPMed gnomAD |
|
| rs2058960221 | 574 | D>N | No | Ensembl | |
| rs2058960242 | 575 | I>M | No | TOPMed | |
|
RCV001533977 rs201036817 |
576 | T>N | No |
ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
| rs1228601501 | 577 | Q>K | No | gnomAD | |
| rs985954510 | 577 | Q>R | No |
TOPMed gnomAD |
|
| rs2145722808 | 578 | D>E | No | Ensembl | |
| rs2145722806 | 578 | D>N | No | Ensembl | |
| rs2145722816 | 580 | R>P | No | Ensembl | |
|
COSM274975 rs2145722816 |
580 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| TCGA novel | 581 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2058960342 | 581 | N>S | No | Ensembl | |
| TCGA novel | 582 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 582 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1339748510 | 583 | L>I | No | gnomAD | |
| rs1339748510 | 583 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2058960398 | 586 | K>E | No | gnomAD | |
| rs760772299 | 587 | L>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1416468 | 587 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs764109950 | 588 | V>A | No |
ExAC gnomAD |
|
| rs764109950 | 588 | V>D | No |
ExAC gnomAD |
|
| rs1457616974 | 588 | V>I | No |
TOPMed gnomAD |
|
| rs765699230 | 589 | Q>K | No |
ExAC gnomAD |
|
| rs2058973651 | 594 | T>A | No | Ensembl | |
|
COSM1416470 RCV003312563 rs886057557 |
595 | P>L | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
| TCGA novel | 596 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145724933 | 598 | A>D | No | Ensembl | |
| rs2145724933 | 598 | A>V | No | Ensembl | |
| COSM1034526 | 599 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1292560683 | 599 | A>V | No | gnomAD | |
| rs1199063480 | 602 | D>E | No | gnomAD | |
| TCGA novel | 602 | D>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777400518 COSM1205371 |
604 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs2145724948 | 604 | R>W | No | Ensembl | |
| rs2058973814 | 605 | M>I | No | Ensembl | |
| rs2058973828 | 606 | E>D | No | Ensembl | |
| rs2145724966 | 612 | A>T | No | Ensembl | |
| rs2058973901 | 613 | R>Q | No | TOPMed | |
| TCGA novel | 613 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145724986 | 615 | V>I | No | Ensembl | |
| rs2058973976 | 619 | M>I | No | TOPMed | |
| rs1394208815 | 621 | E>A | No |
TOPMed gnomAD |
|
| rs1394208815 | 621 | E>G | No |
TOPMed gnomAD |
|
| rs778829658 | 621 | E>Q | No |
ExAC gnomAD |
|
| rs745665740 | 622 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs1569102735 | 623 | A>T | No | Ensembl | |
| rs771836492 | 624 | N>D | No |
ExAC gnomAD |
|
| rs1186474207 | 624 | N>K | No | gnomAD | |
| rs2145725035 | 626 | R>G | No | Ensembl | |
|
rs1299332607 COSM127889 |
627 | A>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs1280109939 | 627 | A>E | No | gnomAD | |
| rs1280109939 | 627 | A>G | No | gnomAD | |
| rs2145725820 | 627 | A>P | No | Ensembl | |
| rs2145725820 | 627 | A>S | No | Ensembl | |
| rs2145725820 | 627 | A>T | No | Ensembl | |
|
COSM5057844 rs1280109939 |
627 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs2145725837 | 628 | E>* | No | Ensembl | |
| rs773330899 | 628 | E>D | No |
ExAC gnomAD |
|
| rs2145725837 | 628 | E>K | No | Ensembl | |
| rs2145725837 | 628 | E>Q | No | Ensembl | |
| rs2145725844 | 628 | E>V | No | Ensembl | |
| rs144594889 | 629 | Y>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145725852 | 629 | Y>D | No | Ensembl | |
| rs2145725855 | 629 | Y>F | No | Ensembl | |
| rs2145725852 | 629 | Y>N | No | Ensembl | |
| rs2145725860 | 630 | Y>* | No | Ensembl | |
|
rs2145725863 COSM1308202 |
631 | H>D | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2145725866 | 631 | H>L | No | Ensembl | |
| rs771462863 | 631 | H>Q | No |
ExAC gnomAD |
|
| rs2145725863 | 631 | H>Y | No | Ensembl | |
| rs2145725872 | 632 | L>P | No | Ensembl | |
| rs2145725881 | 633 | L>P | No | Ensembl | |
| rs2145725877 | 633 | L>V | No | Ensembl | |
| rs2145725897 | 634 | A>D | No | Ensembl | |
| rs2145725897 | 634 | A>G | No | Ensembl | |
| rs2145725891 | 634 | A>P | No | Ensembl | |
| rs2145725891 | 634 | A>S | No | Ensembl | |
| rs2145725891 | 634 | A>T | No | Ensembl | |
| rs2145725897 | 634 | A>V | No | Ensembl | |
|
rs774853270 TCGA novel |
635 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC gnomAD NCI-TCGA |
| rs2145725906 | 635 | E>K | No | Ensembl | |
| rs2145725909 | 635 | E>V | No | Ensembl | |
| rs2145725912 | 636 | K>* | No | Ensembl | |
| rs2145725913 | 636 | K>I | No | Ensembl | |
| rs2145725924 | 637 | I>F | No | Ensembl | |
| rs1271497250 | 637 | I>M | No | gnomAD | |
| rs2145725929 | 637 | I>N | No | Ensembl | |
| rs2145725929 | 637 | I>S | No | Ensembl | |
| rs2145725929 | 637 | I>T | No | Ensembl | |
| rs2145725924 | 637 | I>V | No | Ensembl | |
| rs376635222 | 638 | Y>C | No |
ESP ExAC gnomAD |
|
| rs2145725941 | 638 | Y>H | No | Ensembl | |
| rs2145725941 | 638 | Y>N | No | Ensembl | |
| rs2145725956 | 639 | K>* | No | Ensembl | |
| rs768155857 | 639 | K>M | No |
ExAC TOPMed gnomAD |
|
| rs1601613374 | 639 | K>N | No | Ensembl | |
| rs2145725956 | 639 | K>Q | No | Ensembl | |
| rs768155857 | 639 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs2145725968 | 640 | I>M | No | Ensembl | |
| rs2145725974 | 641 | Q>* | No | Ensembl | |
| rs2145725974 | 641 | Q>E | No | Ensembl | |
| rs2145725986 | 641 | Q>H | No | Ensembl | |
| rs2145725979 | 641 | Q>L | No | Ensembl | |
| rs2145725979 | 641 | Q>R | No | Ensembl | |
| rs753184724 | 642 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs2145725993 | 643 | E>* | No | Ensembl | |
|
TCGA novel rs1452218762 |
643 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
rs2145725993 COSM224101 |
643 | E>K | skin [Cosmic] | No |
cosmic curated Ensembl |
| rs2145725993 | 643 | E>Q | No | Ensembl | |
| rs2145726000 | 643 | E>V | No | Ensembl | |
| rs2145726014 | 644 | L>I | No | Ensembl | |
| rs761263817 | 644 | L>R | No |
ExAC gnomAD |
|
| rs2145726014 | 644 | L>V | No | Ensembl | |
| rs2145726030 | 645 | E>D | No | Ensembl | |
| rs2145726028 | 645 | E>K | No | Ensembl | |
| rs2145726028 | 645 | E>Q | No | Ensembl | |
| rs764779052 | 646 | E>D | No |
ExAC gnomAD |
|
| rs2145726036 | 646 | E>V | No | Ensembl | |
| rs2145726046 | 647 | K>* | No | Ensembl | |
| rs2145726048 | 647 | K>I | No | Ensembl | |
| rs2145726054 | 647 | K>N | No | Ensembl | |
| rs2145726048 | 647 | K>T | No | Ensembl | |
| rs137853039 | 648 | R>G | No | Ensembl | |
| rs2058979612 | 648 | R>L | No | gnomAD | |
| rs2058979612 | 648 | R>P | No | gnomAD | |
| rs2058979612 | 648 | R>Q | No | gnomAD | |
| rs2145726068 | 649 | R>M | No | Ensembl | |
| rs2145726073 | 649 | R>S | No | Ensembl | |
| rs2145726068 | 649 | R>T | No | Ensembl | |
| rs2145726077 | 650 | T>N | No | Ensembl | |
| rs2145726077 | 650 | T>S | No | Ensembl | |
| rs2145726089 | 651 | R>* | No | Ensembl | |
| rs2145726092 | 651 | R>K | No | Ensembl | |
| rs2145726097 | 651 | R>S | No | Ensembl | |
| rs2145726092 | 651 | R>T | No | Ensembl | |
| rs1451066650 | 652 | L>I | No | gnomAD | |
| rs2058979647 | 652 | L>P | No | TOPMed | |
| rs2058979647 | 652 | L>Q | No | TOPMed | |
| rs1451066650 | 652 | L>V | No | gnomAD | |
| rs1601613391 | 653 | Q>E | No | Ensembl | |
| rs1601613391 | 653 | Q>K | No | Ensembl | |
| rs2145726110 | 653 | Q>R | No | Ensembl | |
| rs2145726115 | 654 | K>* | No | Ensembl | |
| rs2145726117 | 654 | K>M | No | Ensembl | |
| rs2145726121 | 654 | K>N | No | Ensembl | |
| rs2145726117 | 654 | K>R | No | Ensembl | |
| rs2145726129 | 655 | Q>* | No | Ensembl | |
| rs2145726129 | 655 | Q>E | No | Ensembl | |
| rs199679406 | 655 | Q>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2145726129 | 655 | Q>K | No | Ensembl | |
| rs1405828471 | 656 | N>I | No | gnomAD | |
| rs2145726148 | 656 | N>K | No | Ensembl | |
| rs1405828471 | 656 | N>S | No | gnomAD | |
| rs1405828471 | 656 | N>T | No | gnomAD | |
| rs779881493 | 657 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs368441668 | 657 | M>L | No |
ESP ExAC gnomAD |
|
| rs368441668 | 657 | M>V | No |
ESP ExAC gnomAD |
|
| rs973317775 | 658 | L>I | No |
TOPMed gnomAD |
|
| rs2145726162 | 658 | L>P | No | Ensembl | |
| rs2145726162 | 658 | L>Q | No | Ensembl | |
| rs973317775 | 658 | L>V | No |
TOPMed gnomAD |
|
| rs868285862 | 659 | P>A | No | Ensembl | |
| rs2145726176 | 659 | P>L | No | Ensembl | |
| rs2145726176 | 659 | P>Q | No | Ensembl | |
| rs2145726176 | 659 | P>R | No | Ensembl | |
| rs868285862 | 659 | P>S | No | Ensembl | |
| rs868285862 | 659 | P>T | No | Ensembl | |
| rs2145726191 | 660 | N>I | No | Ensembl | |
| rs2145726198 | 660 | N>K | No | Ensembl | |
| rs2145726191 | 660 | N>S | No | Ensembl | |
| rs2145726191 | 660 | N>T | No | Ensembl | |
| rs2145726187 | 660 | N>Y | No | Ensembl | |
| rs2145726205 | 661 | A>D | No | Ensembl | |
| rs2145726205 | 661 | A>G | No | Ensembl | |
| rs2058979827 | 661 | A>P | No | TOPMed | |
| rs2058979827 | 661 | A>T | No | TOPMed | |
| rs2145726205 | 661 | A>V | No | Ensembl | |
| rs1339311567 | 662 | A>G | No |
TOPMed gnomAD |
|
| rs934248421 | 662 | A>T | No | gnomAD | |
| rs1339311567 | 662 | A>V | No |
TOPMed gnomAD |
|
| rs148463226 | 663 | G>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2145726231 | 663 | G>C | No | Ensembl | |
| rs148463226 | 663 | G>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2145726231 | 663 | G>R | No | Ensembl | |
| rs2145726231 | 663 | G>S | No | Ensembl | |
| rs148463226 | 663 | G>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2145726247 | 664 | M>I | No | Ensembl | |
| rs529145180 | 664 | M>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs547684073 | 664 | M>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
RCV001566880 rs547684073 |
664 | M>T | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs529145180 | 664 | M>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2145726260 | 665 | V>D | No | Ensembl | |
| rs2145726256 | 665 | V>F | No | Ensembl | |
| rs2145726260 | 665 | V>G | No | Ensembl | |
| rs2145726256 | 665 | V>I | No | Ensembl | |
| rs2145726256 | 665 | V>L | No | Ensembl | |
| rs1248254534 | 666 | P>L | No | gnomAD | |
| rs1248254534 | 666 | P>R | No | gnomAD | |
| rs2145726264 | 666 | P>S | No | Ensembl | |
| rs2145726264 | 666 | P>T | No | Ensembl | |
| rs2145726276 | 667 | V>D | No | Ensembl | |
| rs1311246363 | 668 | S>A | No | gnomAD | |
| rs2145726290 | 668 | S>F | No | Ensembl | |
| rs2145726290 | 668 | S>Y | No | Ensembl | |
| rs2145726311 | 669 | M>I | No | Ensembl | |
| rs771268691 | 669 | M>K | No |
ExAC gnomAD |
|
| rs749541256 | 669 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs143626506 | 670 | N>I | No |
ESP ExAC gnomAD |
|
| rs143626506 | 670 | N>S | No |
ESP ExAC gnomAD |
|
| rs143626506 | 670 | N>T | No |
ESP ExAC gnomAD |
|
| rs2145726315 | 670 | N>Y | No | Ensembl | |
| rs2145726328 | 671 | P>A | No | Ensembl | |
| rs2145726331 | 671 | P>L | No | Ensembl | |
| rs2145726331 | 671 | P>Q | No | Ensembl | |
| rs2145726331 | 671 | P>R | No | Ensembl | |
| rs2145726328 | 671 | P>S | No | Ensembl | |
| rs2145726328 | 671 | P>T | No | Ensembl | |
| rs147177332 | 672 | G>A | No |
ESP TOPMed gnomAD |
|
| rs147177332 | 672 | G>E | No |
ESP TOPMed gnomAD |
|
| rs2145726342 | 672 | G>R | No | Ensembl | |
| rs147177332 | 672 | G>V | No |
ESP TOPMed gnomAD |
|
| rs2145726342 | 672 | G>W | No | Ensembl | |
| rs2145726365 | 673 | P>A | No | Ensembl | |
| rs2145726375 | 673 | P>H | No | Ensembl | |
| rs2145726375 | 673 | P>L | No | Ensembl | |
| rs2145726375 | 673 | P>R | No | Ensembl | |
| rs2145726365 | 673 | P>S | No | Ensembl | |
| rs2145726365 | 673 | P>T | No | Ensembl | |
| rs772528449 | 674 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs1325544787 | 674 | N>I | No |
TOPMed gnomAD |
|
| rs2145726399 | 674 | N>K | No | Ensembl | |
| rs1325544787 | 674 | N>T | No |
TOPMed gnomAD |
|
| rs772528449 | 674 | N>Y | No |
ExAC TOPMed gnomAD |
|
| rs1394264199 | 675 | M>L | No | Ensembl | |
| rs775906243 | 675 | M>R | No |
ExAC gnomAD |
|
| rs775906243 | 675 | M>T | No |
ExAC gnomAD |
|
| rs1394264199 | 675 | M>V | No | Ensembl | |
| rs2145726419 | 676 | G>* | No | Ensembl | |
| rs1555908795 | 676 | G>E | No | Ensembl | |
| rs2145726419 | 676 | G>R | No | Ensembl | |
| rs1555908795 | 676 | G>V | No | Ensembl | |
| rs1316719013 | 677 | Q>* | No |
TOPMed gnomAD |
|
| rs1316719013 | 677 | Q>E | No |
TOPMed gnomAD |
|
| rs2145726444 | 677 | Q>H | No | Ensembl | |
| rs1316719013 | 677 | Q>K | No |
TOPMed gnomAD |
|
| rs764718613 | 677 | Q>L | No |
ExAC gnomAD |
|
| rs764718613 | 677 | Q>R | No |
ExAC gnomAD |
|
| rs1246231485 | 678 | P>L | No |
TOPMed gnomAD |
|
| rs1246231485 | 678 | P>Q | No |
TOPMed gnomAD |
|
| rs1246231485 | 678 | P>R | No |
TOPMed gnomAD |
|
| rs2145726456 | 679 | Q>* | No | Ensembl | |
| rs2145726456 | 679 | Q>E | No | Ensembl | |
| rs2145726456 | 679 | Q>K | No | Ensembl | |
| rs2145726461 | 679 | Q>L | No | Ensembl | |
| rs2145726461 | 679 | Q>R | No | Ensembl | |
| rs762389769 | 680 | P>A | No |
ExAC gnomAD |
|
| rs2145726478 | 680 | P>L | No | Ensembl | |
| rs2145726478 | 680 | P>Q | No | Ensembl | |
| rs2145726478 | 680 | P>R | No | Ensembl | |
| rs762389769 | 680 | P>S | No |
ExAC gnomAD |
|
| rs762389769 | 680 | P>T | No |
ExAC gnomAD |
|
| rs2145726493 | 681 | G>* | No | Ensembl | |
| rs1358237815 | 681 | G>A | No |
TOPMed gnomAD |
|
| rs1358237815 | 681 | G>E | No |
TOPMed gnomAD |
|
| rs2145726493 | 681 | G>R | No | Ensembl | |
|
TCGA novel rs2058980437 |
682 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs2145726517 | 682 | M>K | No | Ensembl | |
| rs2145726509 | 682 | M>L | No | Ensembl | |
| rs2145726517 | 682 | M>R | No | Ensembl | |
| rs2145726528 | 683 | T>A | No | Ensembl | |
| rs2058980456 | 683 | T>I | No | Ensembl | |
| rs2058980456 | 683 | T>N | No | Ensembl | |
| rs2145726528 | 683 | T>S | No | Ensembl | |
| rs2058980456 | 683 | T>S | No | Ensembl | |
| rs1268144984 | 684 | S>C | No | gnomAD | |
| rs1268144984 | 684 | S>F | No | gnomAD | |
| rs2145726544 | 684 | S>T | No | Ensembl | |
| rs2145726552 | 685 | N>D | No | Ensembl | |
| rs2145732233 | 685 | N>I | No | Ensembl | |
| rs2145726552 | 685 | N>Y | No | Ensembl | |
| rs2059012704 | 686 | G>A | No | Ensembl | |
| rs1466693116 | 686 | G>C | No | gnomAD | |
| rs2059012704 | 686 | G>D | No | Ensembl | |
| rs1466693116 | 686 | G>R | No | gnomAD | |
| rs1466693116 | 686 | G>S | No | gnomAD | |
| rs2059012704 | 686 | G>V | No | Ensembl | |
| rs2145732249 | 687 | P>A | No | Ensembl | |
| rs2059012716 | 687 | P>H | No |
TOPMed gnomAD |
|
| rs2059012716 | 687 | P>L | No |
TOPMed gnomAD |
|
| rs2145732249 | 687 | P>S | No | Ensembl | |
| rs2145732249 | 687 | P>T | No | Ensembl | |
| rs1381186006 | 688 | L>P | No | Ensembl | |
| rs767283642 | 688 | L>V | No |
ExAC TOPMed gnomAD |
|
|
rs1601617065 RCV001008436 |
689 | P>missing | No |
ClinVar dbSNP |
|
| rs2145732271 | 689 | P>A | No | Ensembl | |
| rs1018942944 | 689 | P>R | No | TOPMed | |
| rs2145732271 | 689 | P>S | No | Ensembl | |
| rs2145732283 | 690 | D>A | No | Ensembl | |
| rs2145732287 | 690 | D>E | No | Ensembl | |
| rs2145732283 | 690 | D>G | No | Ensembl | |
| rs2059012785 | 690 | D>H | No | TOPMed | |
| rs2145732283 | 690 | D>V | No | Ensembl | |
| rs2059012785 | 690 | D>Y | No | TOPMed | |
| rs2145732290 | 691 | P>A | No | Ensembl | |
| rs764100324 | 691 | P>L | No |
ExAC gnomAD |
|
| rs764100324 | 691 | P>R | No |
ExAC gnomAD |
|
| rs2145732290 | 691 | P>S | No | Ensembl | |
| rs2145732290 | 691 | P>T | No | Ensembl | |
| rs2145732305 | 692 | S>C | No | Ensembl | |
| TCGA novel | 692 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1309154528 | 692 | S>N | No | gnomAD | |
| rs1555909203 | 692 | S>R | No | Ensembl | |
| rs1309154528 | 692 | S>T | No | gnomAD | |
| rs2145732328 | 693 | M>I | No | Ensembl | |
| rs199636064 | 693 | M>K | No | gnomAD | |
| rs151147205 | 693 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs757439018 | 694 | I>F | No |
ExAC TOPMed gnomAD |
|
| rs757439018 | 694 | I>L | No |
ExAC TOPMed gnomAD |
|
| rs2145732343 | 694 | I>M | No | Ensembl | |
| rs2145732337 | 694 | I>N | No | Ensembl | |
| rs757439018 | 694 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs200624197 | 695 | R>C | No |
1000Genomes gnomAD |
|
| rs200624197 | 695 | R>G | No |
1000Genomes gnomAD |
|
| rs1331329852 | 695 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1331329852 | 695 | R>P | No |
TOPMed gnomAD |
|
| rs200624197 | 695 | R>S | No |
1000Genomes gnomAD |
|
| rs746155590 | 696 | G>A | No |
ExAC gnomAD |
|
| rs746155590 | 696 | G>D | No |
ExAC gnomAD |
|
| rs2145732358 | 696 | G>R | No | Ensembl | |
| rs2145732358 | 696 | G>S | No | Ensembl | |
| rs746155590 | 696 | G>V | No |
ExAC gnomAD |
|
| rs758631140 | 697 | S>C | No |
ExAC gnomAD |
|
| rs758631140 | 697 | S>G | No |
ExAC gnomAD |
|
| rs2059012954 | 697 | S>I | No | TOPMed | |
|
rs2059012954 COSM160790 |
697 | S>N | breast [Cosmic] | No |
cosmic curated TOPMed |
| rs2059012954 | 697 | S>T | No | TOPMed | |
| rs980024399 | 698 | V>A | No |
TOPMed gnomAD |
|
| rs980024399 | 698 | V>E | No |
TOPMed gnomAD |
|
| rs980024399 | 698 | V>G | No |
TOPMed gnomAD |
|
|
rs2145732378 COSM4137484 |
698 | V>L | ovary [Cosmic] | No |
cosmic curated Ensembl |
| rs2145732378 | 698 | V>M | No | Ensembl | |
| rs1481692627 | 699 | P>A | No |
TOPMed gnomAD |
|
| rs1481692627 | 699 | P>S | No |
TOPMed gnomAD |
|
| rs1481692627 | 699 | P>T | No |
TOPMed gnomAD |
|
| rs2145732399 | 700 | N>K | No | Ensembl | |
| rs2145732396 | 700 | N>Y | No | Ensembl | |
| rs2145732403 | 701 | Q>E | No | Ensembl | |
| rs2145732406 | 701 | Q>H | No | Ensembl | |
| rs2145732403 | 701 | Q>K | No | Ensembl | |
| rs764358336 | 701 | Q>L | No | Ensembl | |
| rs2059013087 | 702 | M>I | No | TOPMed | |
| rs1288930920 | 702 | M>K | No | gnomAD | |
| TCGA novel | 702 | M>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1288930920 | 702 | M>R | No | gnomAD | |
| rs1288930920 | 702 | M>T | No | gnomAD | |
| rs1258333494 | 702 | M>V | No | TOPMed | |
| rs2145732439 | 703 | M>I | No | Ensembl | |
| rs2145732431 | 703 | M>K | No | Ensembl | |
| rs2145732422 | 703 | M>L | No | Ensembl | |
| rs2145732422 | 703 | M>V | No | Ensembl | |
| rs149858781 | 704 | P>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145732453 | 704 | P>H | No | Ensembl | |
| rs2145732453 | 704 | P>L | No | Ensembl | |
| rs2145732453 | 704 | P>R | No | Ensembl | |
| rs149858781 | 704 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145732463 | 705 | R>* | No | Ensembl | |
| rs2145732463 | 705 | R>G | No | Ensembl | |
| rs201889581 | 705 | R>P | No | TOPMed | |
| rs201889581 | 705 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs2145732475 | 706 | I>K | No | Ensembl | |
| rs367905602 | 706 | I>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145732475 | 706 | I>T | No | Ensembl | |
| rs367905602 | 706 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145732478 | 707 | T>N | No | Ensembl | |
| rs1219217509 | 707 | T>P | No |
TOPMed gnomAD |
|
| rs1219217509 | 707 | T>S | No |
TOPMed gnomAD |
|
| rs2145732478 | 707 | T>S | No | Ensembl | |
| rs992638094 | 708 | P>A | No | TOPMed | |
| rs2145732486 | 708 | P>L | No | Ensembl | |
| rs2145732486 | 708 | P>Q | No | Ensembl | |
| rs2145732486 | 708 | P>R | No | Ensembl | |
| rs992638094 | 708 | P>S | No | TOPMed | |
| rs992638094 | 708 | P>T | No | TOPMed | |
| rs2059013182 | 709 | Q>E | No | Ensembl | |
| rs748630545 | 709 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs1195683197 | 710 | S>C | No |
TOPMed gnomAD |
|
| rs1195683197 | 710 | S>F | No |
TOPMed gnomAD |
|
| rs2145732502 | 710 | S>T | No | Ensembl | |
| rs1195683197 | 710 | S>Y | No |
TOPMed gnomAD |
|
| rs2145732507 | 711 | G>C | No | Ensembl | |
| rs2145732507 | 711 | G>R | No | Ensembl | |
| rs2145732507 | 711 | G>S | No | Ensembl | |
| rs2145734018 | 712 | L>F | No | Ensembl | |
| rs2145734014 | 712 | L>S | No | Ensembl | |
| rs2145734025 | 713 | N>I | No | Ensembl | |
| rs2145734021 | 713 | N>Y | No | Ensembl | |
| rs2145734029 | 714 | Q>* | No | Ensembl | |
| rs2145734029 | 714 | Q>E | No | Ensembl | |
| rs1244240290 | 714 | Q>H | No | gnomAD | |
| rs2145734029 | 714 | Q>K | No | Ensembl | |
| rs1216703492 | 714 | Q>L | No |
TOPMed gnomAD |
|
| rs1216703492 | 714 | Q>P | No |
TOPMed gnomAD |
|
| rs1216703492 | 714 | Q>R | No |
TOPMed gnomAD |
|
| rs1569106291 | 715 | F>C | No | Ensembl | |
| rs1569106291 | 715 | F>Y | No | Ensembl | |
| rs1555909323 | 716 | G>A | No | Ensembl | |
| rs2145734045 | 716 | G>C | No | Ensembl | |
| rs1555909323 | 716 | G>D | No | Ensembl | |
| rs1555909323 | 716 | G>V | No | Ensembl | |
| rs2145734058 | 717 | Q>* | No | Ensembl | |
| rs2145734058 | 717 | Q>E | No | Ensembl | |
| rs763114512 | 717 | Q>H | No |
ExAC gnomAD |
|
| rs2145734062 | 717 | Q>L | No | Ensembl | |
| rs2145734081 | 718 | M>I | No | Ensembl | |
| rs1476439746 | 718 | M>K | No | gnomAD | |
| rs1476439746 | 718 | M>R | No | gnomAD | |
| rs1476439746 | 718 | M>T | No | gnomAD | |
| rs199552095 | 719 | S>C | No | Ensembl | |
| rs199552095 | 719 | S>G | No | Ensembl | |
| rs2059020948 | 719 | S>N | No | TOPMed | |
| rs2059020948 | 719 | S>T | No | TOPMed | |
| rs2145734098 | 720 | M>I | No | Ensembl | |
| rs1162177712 | 720 | M>L | No |
TOPMed gnomAD |
|
| rs2145734094 | 720 | M>R | No | Ensembl | |
| rs1162177712 | 720 | M>V | No |
TOPMed gnomAD |
|
| rs2145734109 | 721 | A>D | No | Ensembl | |
| rs2145734109 | 721 | A>G | No | Ensembl | |
| rs2145734109 | 721 | A>V | No | Ensembl | |
| rs1416474419 | 722 | Q>* | No | gnomAD | |
| rs1416474419 | 722 | Q>K | No | gnomAD | |
| rs751846757 | 722 | Q>L | No |
ExAC gnomAD |
|
| rs751846757 | 722 | Q>P | No |
ExAC gnomAD |
|
| rs751846757 | 722 | Q>R | No |
ExAC gnomAD |
|
| rs755152564 | 723 | P>A | No | ExAC | |
| rs2145734140 | 723 | P>H | No | Ensembl | |
| rs2145734140 | 723 | P>L | No | Ensembl | |
| rs2145734140 | 723 | P>R | No | Ensembl | |
| rs755152564 | 723 | P>S | No | ExAC | |
| rs755152564 | 723 | P>T | No | ExAC | |
| rs781594668 | 724 | P>A | No |
ExAC gnomAD |
|
| rs1041249174 | 724 | P>H | No | Ensembl | |
| rs1041249174 | 724 | P>L | No | Ensembl | |
| rs1041249174 | 724 | P>R | No | Ensembl | |
| rs781594668 | 724 | P>S | No |
ExAC gnomAD |
|
| rs73885743 | 725 | I>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs375822328 | 725 | I>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs375822328 | 725 | I>T | No |
ESP ExAC TOPMed gnomAD |
|
|
rs73885743 RCV000120705 CA158483 |
725 | I>V | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs778286798 | 726 | V>I | No |
ExAC gnomAD |
|
| rs778286798 | 726 | V>L | No |
ExAC gnomAD |
|
| rs749711387 | 727 | P>A | No |
ExAC gnomAD |
|
| rs771666573 | 727 | P>H | No |
ExAC gnomAD |
|
| rs771666573 | 727 | P>L | No |
ExAC gnomAD |
|
| rs771666573 | 727 | P>R | No |
ExAC gnomAD |
|
| rs749711387 | 727 | P>S | No |
ExAC gnomAD |
|
| rs1354874707 | 728 | R>G | No |
TOPMed gnomAD |
|
| rs746729196 | 728 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs746729196 | 728 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1354874707 | 728 | R>W | No |
TOPMed gnomAD |
|
| rs2145734208 | 729 | Q>* | No | Ensembl | |
| rs2145734208 | 729 | Q>E | No | Ensembl | |
| rs1336784957 | 729 | Q>H | No |
TOPMed gnomAD |
|
| rs2145734210 | 729 | Q>L | No | Ensembl | |
| rs2059021271 | 730 | T>A | No | gnomAD | |
| rs747985335 | 730 | T>I | No |
ExAC gnomAD |
|
| rs747985335 | 730 | T>N | No |
ExAC gnomAD |
|
| rs747985335 | 730 | T>S | No |
ExAC gnomAD |
|
| rs1290732977 | 731 | P>A | No |
TOPMed gnomAD |
|
| rs769662215 | 731 | P>H | No |
ExAC gnomAD |
|
| rs769662215 | 731 | P>L | No |
ExAC gnomAD |
|
| rs769662215 | 731 | P>R | No |
ExAC gnomAD |
|
| rs1290732977 | 731 | P>S | No |
TOPMed gnomAD |
|
| rs1290732977 | 731 | P>T | No |
TOPMed gnomAD |
|
| rs1486959230 | 732 | P>A | No | gnomAD | |
| rs910443361 | 732 | P>L | No |
TOPMed gnomAD |
|
| rs910443361 | 732 | P>R | No |
TOPMed gnomAD |
|
| rs1486959230 | 732 | P>S | No | gnomAD | |
| rs1486959230 | 732 | P>T | No | gnomAD | |
| rs1256254363 | 733 | L>F | No |
TOPMed gnomAD |
|
| rs2145734239 | 733 | L>H | No | Ensembl | |
| rs1256254363 | 733 | L>V | No |
TOPMed gnomAD |
|
|
TCGA novel rs2145734245 |
734 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2145734245 | 734 | Q>E | No | Ensembl | |
| rs762767626 | 734 | Q>H | No |
ExAC gnomAD |
|
| rs779657418 | 734 | Q>L | No |
ExAC TOPMed gnomAD |
|
|
RCV002214259 rs779657418 |
734 | Q>R | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2145734259 | 735 | H>D | No | Ensembl | |
| rs1416253825 | 735 | H>Q | No |
TOPMed gnomAD |
|
| rs2145734259 | 735 | H>Y | No | Ensembl | |
| rs1405333535 | 736 | H>D | No | gnomAD | |
| rs2145734271 | 736 | H>L | No | Ensembl | |
| rs1405333535 | 736 | H>N | No | gnomAD | |
| rs1405333535 | 736 | H>Y | No | gnomAD | |
| rs1399702248 | 737 | G>A | No | gnomAD | |
| rs1399702248 | 737 | G>E | No | gnomAD | |
| rs2145734276 | 737 | G>R | No | Ensembl | |
| rs2145734288 | 738 | Q>* | No | Ensembl | |
| rs2145734288 | 738 | Q>E | No | Ensembl | |
| rs2145734302 | 738 | Q>H | No | Ensembl | |
| rs766858607 | 738 | Q>P | No |
TOPMed gnomAD |
|
| rs1158275222 | 739 | L>* | No | TOPMed | |
| rs2145734312 | 739 | L>F | No | Ensembl | |
| rs2145734305 | 739 | L>M | No | Ensembl | |
| rs1158275222 | 739 | L>S | No | TOPMed | |
| rs2145734305 | 739 | L>V | No | Ensembl | |
| rs1158275222 | 739 | L>W | No | TOPMed | |
| rs2145734329 | 740 | A>D | No | Ensembl | |
| rs2145734329 | 740 | A>G | No | Ensembl | |
| rs2145734318 | 740 | A>P | No | Ensembl | |
| rs2145734318 | 740 | A>S | No | Ensembl | |
| rs2145734318 | 740 | A>T | No | Ensembl | |
| rs2145734329 | 740 | A>V | No | Ensembl | |
| COSM4824049 | 741 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2145734338 | 741 | Q>E | No | Ensembl | |
| rs943320429 | 741 | Q>H | No | TOPMed | |
| rs1345712877 | 741 | Q>L | No | gnomAD | |
| rs1345712877 | 741 | Q>P | No | gnomAD | |
| rs2145734352 | 742 | P>A | No | Ensembl | |
| rs1376992475 | 742 | P>L | No |
TOPMed gnomAD |
|
| rs1376992475 | 742 | P>R | No |
TOPMed gnomAD |
|
| rs2145734352 | 742 | P>S | No | Ensembl | |
| rs2145734366 | 743 | G>A | No | Ensembl | |
| rs2145734366 | 743 | G>E | No | Ensembl | |
| rs2145734361 | 743 | G>R | No | Ensembl | |
| rs1312164936 | 744 | A>D | No |
TOPMed gnomAD |
|
| rs1312164936 | 744 | A>G | No |
TOPMed gnomAD |
|
| rs1312164936 | 744 | A>V | No |
TOPMed gnomAD |
|
| rs2145734385 | 745 | L>F | No | Ensembl | |
| rs2145734385 | 745 | L>I | No | Ensembl | |
| rs2145734385 | 745 | L>V | No | Ensembl | |
| rs1474813282 | 746 | N>D | No | TOPMed | |
| rs766548877 | 746 | N>I | No |
ExAC TOPMed gnomAD |
|
| rs1281296058 | 746 | N>K | No | gnomAD | |
| rs766548877 | 746 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs766548877 | 746 | N>T | No |
ExAC TOPMed gnomAD |
|
| rs1474813282 | 746 | N>Y | No | TOPMed | |
| rs368925714 | 747 | P>A | No |
ESP TOPMed gnomAD |
|
| rs193026103 | 747 | P>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs193026103 | 747 | P>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs368925714 | 747 | P>S | No |
ESP TOPMed gnomAD |
|
| rs368925714 | 747 | P>T | No |
ESP TOPMed gnomAD |
|
| rs754582079 | 748 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs754582079 | 748 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs754582079 | 748 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs750891008 | 748 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs750891008 | 748 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs747874824 | 749 | M>I | No |
ExAC gnomAD |
|
| rs370478867 | 749 | M>L | No |
ESP ExAC gnomAD |
|
| rs1433543827 | 750 | G>A | No | gnomAD | |
| rs2145735740 | 750 | G>C | No | Ensembl | |
|
rs1433543827 RCV001765249 |
750 | G>D | No |
ClinVar dbSNP gnomAD |
|
| rs2145735740 | 750 | G>R | No | Ensembl | |
| rs2145735740 | 750 | G>S | No | Ensembl | |
| rs1433543827 | 750 | G>V | No | gnomAD | |
|
rs755815528 RCV000729940 |
751 | Y>C | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs755815528 | 751 | Y>F | No |
ExAC TOPMed gnomAD |
|
| rs1201708291 | 751 | Y>H | No | TOPMed | |
| rs1201708291 | 751 | Y>N | No | TOPMed | |
| rs2145735762 | 752 | G>A | No | Ensembl | |
| rs2145735762 | 752 | G>E | No | Ensembl | |
| rs1338244902 | 752 | G>R | No |
TOPMed gnomAD |
|
| rs2145735762 | 752 | G>V | No | Ensembl | |
| rs1338244902 | 752 | G>W | No |
TOPMed gnomAD |
|
| rs2145735772 | 753 | P>A | No | Ensembl | |
| rs375255068 | 753 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs375255068 | 753 | P>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145735772 | 753 | P>S | No | Ensembl | |
| rs2145735772 | 753 | P>T | No | Ensembl | |
|
rs2145735782 RCV001752613 |
754 | R>C | No |
ClinVar Ensembl dbSNP |
|
| rs2145735782 | 754 | R>G | No | Ensembl | |
| rs544338126 | 754 | R>L | No |
TOPMed gnomAD |
|
| rs544338126 | 754 | R>P | No |
TOPMed gnomAD |
|
| rs1212637702 | 755 | M>I | No |
TOPMed gnomAD |
|
| rs2145735800 | 755 | M>K | No | Ensembl | |
| rs2145735793 | 755 | M>L | No | Ensembl | |
| rs2145735800 | 755 | M>R | No | Ensembl | |
| rs2145735800 | 755 | M>T | No | Ensembl | |
| rs2145735793 | 755 | M>V | No | Ensembl | |
| rs2145735810 | 756 | Q>* | No | Ensembl | |
| rs2145735810 | 756 | Q>E | No | Ensembl | |
| rs1262217184 | 756 | Q>H | No | gnomAD | |
| rs2145735810 | 756 | Q>K | No | Ensembl | |
| rs2145735814 | 756 | Q>L | No | Ensembl | |
| rs2145735819 | 757 | Q>* | No | Ensembl | |
| rs2145735819 | 757 | Q>E | No | Ensembl | |
| rs2059028191 | 757 | Q>H | No | TOPMed | |
| rs2145735822 | 757 | Q>L | No | Ensembl | |
| rs2145735822 | 757 | Q>R | No | Ensembl | |
| rs749043606 | 758 | P>A | No |
ExAC gnomAD |
|
| rs749043606 | 758 | P>S | No |
ExAC gnomAD |
|
| rs749043606 | 758 | P>T | No |
ExAC gnomAD |
|
| rs2145735837 | 759 | S>C | No | Ensembl | |
| rs2145735837 | 759 | S>F | No | Ensembl | |
| rs2145735837 | 759 | S>Y | No | Ensembl | |
| rs2145735846 | 760 | N>H | No | Ensembl | |
| rs374502005 | 760 | N>I | No |
ExAC TOPMed gnomAD |
|
| rs2145735851 | 760 | N>K | No | Ensembl | |
| rs2145735846 | 760 | N>Y | No | Ensembl | |
| rs2145735854 | 761 | Q>* | No | Ensembl | |
| rs2145735854 | 761 | Q>E | No | Ensembl | |
| rs778740989 | 761 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs2145735854 | 761 | Q>K | No | Ensembl | |
| rs2059028253 | 761 | Q>L | No | gnomAD | |
|
COSM1682285 rs2059028253 |
761 | Q>R | large_intestine [Cosmic] | No |
cosmic curated gnomAD |
| rs2145735861 | 762 | G>C | No | Ensembl | |
| rs745785745 | 762 | G>D | No |
ExAC gnomAD |
|
| rs2145735861 | 762 | G>R | No | Ensembl | |
| rs2145735861 | 762 | G>S | No | Ensembl | |
| rs745785745 | 762 | G>V | No |
ExAC gnomAD |
|
| rs2145735869 | 763 | Q>* | No | Ensembl | |
| rs2145735869 | 763 | Q>E | No | Ensembl | |
| rs1305724298 | 763 | Q>H | No |
TOPMed gnomAD |
|
| rs2145735873 | 763 | Q>L | No | Ensembl | |
| rs775547353 | 764 | F>L | No |
ExAC gnomAD |
|
| rs2145735883 | 764 | F>Y | No | Ensembl | |
| rs2145735890 | 765 | L>F | No | Ensembl | |
| rs2145735894 | 765 | L>H | No | Ensembl | |
| rs2145735890 | 765 | L>I | No | Ensembl | |
| rs2145735894 | 765 | L>P | No | Ensembl | |
| rs2145735890 | 765 | L>V | No | Ensembl | |
| rs2145735903 | 766 | P>A | No | Ensembl | |
| rs760686401 | 766 | P>H | No | ExAC | |
| rs760686401 | 766 | P>L | No | ExAC | |
| rs760686401 | 766 | P>R | No | ExAC | |
| rs2145735903 | 766 | P>S | No | Ensembl | |
| rs2145735903 | 766 | P>T | No | Ensembl | |
|
rs2145735909 COSM445041 |
767 | Q>* | Variant assessed as Somatic; HIGH impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2145735909 | 767 | Q>E | No | Ensembl | |
|
TCGA novel rs2145735916 |
767 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs2145735909 | 767 | Q>K | No | Ensembl | |
| rs768761731 | 767 | Q>L | No |
ExAC gnomAD |
|
| rs1601618939 | 768 | T>I | No | TOPMed | |
| rs1601618939 | 768 | T>N | No | TOPMed | |
| rs2145735923 | 768 | T>S | No | Ensembl | |
| rs1601618939 | 768 | T>S | No | TOPMed | |
|
rs2145735938 RCV001816325 |
769 | Q>* | No |
ClinVar Ensembl dbSNP |
|
| rs2145735938 | 769 | Q>E | No | Ensembl | |
| rs2145735948 | 769 | Q>H | No | Ensembl | |
| rs2145735938 | 769 | Q>K | No | Ensembl | |
| rs1162871227 | 769 | Q>L | No | gnomAD | |
| rs1162871227 | 769 | Q>R | No | gnomAD | |
| rs2145735952 | 770 | F>I | No | Ensembl | |
| rs2145735952 | 770 | F>V | No | Ensembl | |
| rs2145735966 | 771 | P>A | No | Ensembl | |
| rs2145735969 | 771 | P>L | No | Ensembl | |
| rs2145735969 | 771 | P>Q | No | Ensembl | |
| rs2145735969 | 771 | P>R | No | Ensembl | |
| rs2145735966 | 771 | P>S | No | Ensembl | |
| rs2145735966 | 771 | P>T | No | Ensembl | |
| rs776869457 | 772 | S>* | No |
ExAC gnomAD |
|
| rs776869457 | 772 | S>L | No |
ExAC gnomAD |
|
| rs2145735978 | 772 | S>P | No | Ensembl | |
| rs2145735978 | 772 | S>T | No | Ensembl | |
| rs2145735998 | 773 | Q>* | No | Ensembl | |
| rs2145735998 | 773 | Q>E | No | Ensembl | |
| rs1349816234 | 773 | Q>H | No |
TOPMed gnomAD |
|
| rs1439889516 | 773 | Q>L | No |
TOPMed gnomAD |
|
| rs1439889516 | 773 | Q>P | No |
TOPMed gnomAD |
|
| rs1439889516 | 773 | Q>R | No |
TOPMed gnomAD |
|
| rs2059028572 | 774 | G>* | No | Ensembl | |
| rs2145736016 | 774 | G>A | No | Ensembl | |
| rs2145736016 | 774 | G>E | No | Ensembl | |
| rs2059028572 | 774 | G>R | No | Ensembl | |
| rs2145736016 | 774 | G>V | No | Ensembl | |
|
RCV001772781 rs2145736030 |
775 | M>I | No |
Ensembl ClinVar dbSNP |
|
| rs2145736028 | 775 | M>K | No | Ensembl | |
| rs1356673309 | 775 | M>L | No | gnomAD | |
| rs2145736028 | 775 | M>R | No | Ensembl | |
| rs1356673309 | 775 | M>V | No | gnomAD | |
| rs2145736037 | 776 | N>D | No | Ensembl | |
| rs2145736037 | 776 | N>H | No | Ensembl | |
| rs765611366 | 776 | N>I | No |
ExAC gnomAD |
|
| rs2145736048 | 776 | N>K | No | Ensembl | |
| rs765611366 | 776 | N>S | No |
ExAC gnomAD |
|
| rs2145736037 | 776 | N>Y | No | Ensembl | |
| rs2145736052 | 777 | V>E | No | Ensembl | |
| rs2145736052 | 777 | V>G | No | Ensembl | |
| rs751005704 | 777 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs751005704 | 777 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs2145736059 | 778 | T>A | No | Ensembl | |
| rs2145736059 | 778 | T>P | No | Ensembl | |
| rs2145736059 | 778 | T>S | No | Ensembl | |
| rs767194422 | 779 | N>I | No |
ExAC gnomAD |
|
| TCGA novel | 779 | N>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145736073 | 779 | N>K | No | Ensembl | |
| rs767194422 | 779 | N>S | No |
ExAC gnomAD |
|
| rs2145736080 | 780 | I>F | No | Ensembl | |
| rs2145736080 | 780 | I>L | No | Ensembl | |
| rs752268285 | 780 | I>M | No |
ExAC gnomAD |
|
| rs145863376 | 780 | I>N | No |
ESP TOPMed gnomAD |
|
| rs145863376 | 780 | I>S | No |
ESP TOPMed gnomAD |
|
| rs145863376 | 780 | I>T | No |
ESP TOPMed gnomAD |
|
| rs2145736093 | 781 | P>L | No | Ensembl | |
| rs1232350549 | 781 | P>S | No | gnomAD | |
| rs1232350549 | 781 | P>T | No | gnomAD | |
| rs2145736103 | 782 | L>* | No | Ensembl | |
| rs2145736108 | 782 | L>F | No | Ensembl | |
| rs2145736102 | 782 | L>M | No | Ensembl | |
| rs2145736103 | 782 | L>S | No | Ensembl | |
| rs755619355 | 783 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs755619355 | 783 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs2145736111 | 783 | A>P | No | Ensembl | |
| rs2145736111 | 783 | A>S | No | Ensembl | |
| rs2145736111 | 783 | A>T | No | Ensembl | |
| rs1352652949 | 784 | P>A | No | gnomAD | |
| rs201480900 | 784 | P>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs201480900 | 784 | P>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1352652949 | 784 | P>S | No | gnomAD | |
| rs1352652949 | 784 | P>T | No | gnomAD | |
| rs2145736143 | 785 | S>C | No | Ensembl | |
| rs2145736143 | 785 | S>F | No | Ensembl | |
| rs2145736143 | 785 | S>Y | No | Ensembl | |
| rs2145736155 | 786 | S>C | No | Ensembl | |
| rs2145736155 | 786 | S>G | No | Ensembl | |
| rs2145736158 | 786 | S>N | No | Ensembl | |
| rs145803296 | 786 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145736158 | 786 | S>T | No | Ensembl | |
| rs2145736174 | 787 | G>A | No | Ensembl | |
| rs564786569 | 787 | G>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2145736174 | 787 | G>D | No | Ensembl | |
| rs564786569 | 787 | G>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1251735393 | 788 | Q>* | No |
TOPMed gnomAD |
|
| rs1251735393 | 788 | Q>E | No |
TOPMed gnomAD |
|
| rs1259764343 | 788 | Q>H | No | gnomAD | |
| rs1251735393 | 788 | Q>K | No |
TOPMed gnomAD |
|
| rs2145736187 | 788 | Q>L | No | Ensembl | |
| rs2145736187 | 788 | Q>R | No | Ensembl | |
| rs2145736195 | 789 | A>D | No | Ensembl | |
| rs2145736195 | 789 | A>G | No | Ensembl | |
| rs1474261122 | 789 | A>P | No | gnomAD | |
| rs1474261122 | 789 | A>T | No | gnomAD | |
| rs2145736195 | 789 | A>V | No | Ensembl | |
| rs2145736199 | 790 | P>A | No | Ensembl | |
| rs2145736203 | 790 | P>L | No | Ensembl | |
| rs2145736203 | 790 | P>R | No | Ensembl | |
| rs2145736199 | 790 | P>S | No | Ensembl | |
| rs2145736199 | 790 | P>T | No | Ensembl | |
| rs2145736214 | 791 | V>E | No | Ensembl | |
| rs1484112527 | 791 | V>L | No |
TOPMed gnomAD |
|
| rs1484112527 | 791 | V>M | No |
TOPMed gnomAD |
|
| rs2145736223 | 792 | S>C | No | Ensembl | |
| rs2145736223 | 792 | S>F | No | Ensembl | |
| rs2145736216 | 792 | S>P | No | Ensembl | |
| rs2145736216 | 792 | S>T | No | Ensembl | |
| rs2145736223 | 792 | S>Y | No | Ensembl | |
| rs2145736228 | 793 | Q>* | No | Ensembl | |
| rs2145736228 | 793 | Q>E | No | Ensembl | |
| rs2145736236 | 793 | Q>H | No | Ensembl | |
| rs2145736228 | 793 | Q>K | No | Ensembl | |
| rs2145736232 | 793 | Q>R | No | Ensembl | |
| rs2145737058 | 794 | A>T | No | Ensembl | |
| rs755050734 | 796 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs1184805299 | 797 | S>C | No |
TOPMed gnomAD |
|
| rs781326261 | 798 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs748375495 | 799 | S>C | No |
ExAC gnomAD |
|
| rs932158547 | 800 | S>A | No |
TOPMed gnomAD |
|
| rs770068312 | 800 | S>C | No |
ExAC gnomAD |
|
| rs770068312 | 800 | S>F | No |
ExAC gnomAD |
|
| TCGA novel | 800 | S>F | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs932158547 | 800 | S>P | No |
TOPMed gnomAD |
|
| rs773502157 | 801 | C>F | No |
ExAC gnomAD |
|
| rs2059032664 | 802 | P>A | No | Ensembl | |
| rs749702423 | 802 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs749702423 | 802 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs775049547 | 803 | V>L | No |
ExAC gnomAD |
|
| rs775049547 | 803 | V>M | No |
ExAC gnomAD |
|
| rs1601619467 | 804 | N>T | No | Ensembl | |
| rs2059032768 | 805 | S>A | No | TOPMed | |
| rs143383109 | 805 | S>C | No | Ensembl | |
| rs143383109 | 805 | S>F | No | Ensembl | |
| rs1357727063 | 806 | P>H | No |
TOPMed gnomAD |
|
| rs1357727063 | 806 | P>L | No |
TOPMed gnomAD |
|
| rs760059559 | 806 | P>S | No |
ExAC gnomAD |
|
| rs760059559 | 806 | P>T | No |
ExAC gnomAD |
|
| rs776195688 | 807 | I>T | No |
ExAC gnomAD |
|
|
rs201054979 RCV000079671 CA221692 |
807 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1057026423 | 808 | M>L | No |
TOPMed gnomAD |
|
| rs761174121 | 808 | M>T | No |
ExAC gnomAD |
|
| rs1057026423 | 808 | M>V | No |
TOPMed gnomAD |
|
| rs2059032950 | 810 | P>S | No | TOPMed | |
| rs750026216 | 811 | G>A | No |
ExAC gnomAD |
|
| rs750026216 | 811 | G>V | No |
ExAC gnomAD |
|
| COSM4828896 | 813 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2145737155 | 813 | Q>R | No | Ensembl | |
| rs2145737158 | 814 | G>E | No | Ensembl | |
| rs2145737162 | 815 | S>G | No | Ensembl | |
| rs947645254 | 815 | S>T | No | Ensembl | |
| rs2145737177 | 818 | H>Y | No | Ensembl | |
| rs2145737186 | 819 | C>* | No | Ensembl | |
| rs1216878499 | 819 | C>G | No | gnomAD | |
| rs1313772316 | 821 | Q>H | No | Ensembl | |
| rs1257437151 | 823 | P>L | No |
TOPMed gnomAD |
|
| rs1257437151 | 823 | P>R | No |
TOPMed gnomAD |
|
| rs1454353858 | 823 | P>T | No | Ensembl | |
|
COSM254668 rs867077693 |
824 | Q>* | urinary_tract [Cosmic] | No |
cosmic curated Ensembl |
| rs2145737204 | 824 | Q>H | No | Ensembl | |
| rs377743319 | 824 | Q>P | No | Ensembl | |
|
RCV001806584 rs751515727 |
825 | P>S | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs1319677638 | 826 | A>G | No | TOPMed | |
| rs1569107317 | 826 | A>S | No | TOPMed | |
| rs1569107317 | 826 | A>T | No | TOPMed | |
| rs754928894 | 827 | L>H | No |
ExAC gnomAD |
|
| rs2145737214 | 827 | L>I | No | Ensembl | |
| VAR_014428 | 827 | L>P | a breast cancer sample [UniProt] | No | UniProt |
| rs1042140896 | 828 | H>D | No | Ensembl | |
| rs2145737225 | 829 | Q>L | No | Ensembl | |
| rs2145737229 | 831 | S>* | No | Ensembl | |
| rs2145737229 | 831 | S>L | No | Ensembl | |
| rs2059033262 | 832 | P>H | No |
TOPMed gnomAD |
|
| rs2145737235 | 832 | P>S | No | Ensembl | |
|
RCV001774336 COSM1484263 rs1803789601 |
833 | S>L | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP |
| rs1368661997 | 834 | P>L | No | Ensembl | |
| rs538738624 | 834 | P>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs371316522 | 835 | V>A | No |
ESP ExAC TOPMed gnomAD |
|
|
RCV000762075 rs1569107347 |
835 | V>I | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1601619590 | 836 | P>A | No | Ensembl | |
| rs1192330545 | 836 | P>H | No | gnomAD | |
| rs1192330545 | 836 | P>L | No | gnomAD | |
| rs1601619590 | 836 | P>S | No | Ensembl | |
| rs1601619590 | 836 | P>T | No | Ensembl | |
| rs771469134 | 837 | S>G | No |
ExAC gnomAD |
|
| rs2145737275 | 837 | S>T | No | Ensembl | |
|
rs1215000818 COSM269098 |
838 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1215000818 | 838 | R>G | No |
TOPMed gnomAD |
|
| rs774840930 | 838 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs774840930 | 838 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs1215000818 | 838 | R>S | No |
TOPMed gnomAD |
|
| rs2145737285 | 839 | T>I | No | Ensembl | |
| rs2145737284 | 839 | T>P | No | Ensembl | |
| rs2145737285 | 839 | T>S | No | Ensembl | |
| rs1162321286 | 840 | P>L | No | gnomAD | |
| rs2059033514 | 840 | P>S | No | Ensembl | |
| TCGA novel | 840 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145737297 | 841 | T>P | No | Ensembl | |
| rs1601619615 | 841 | T>S | No | Ensembl | |
| rs2145737297 | 841 | T>S | No | Ensembl | |
|
rs2059033606 COSM1721877 |
842 | P>S | NS [Cosmic] | No |
cosmic curated Ensembl |
| rs2059033606 | 842 | P>T | No | Ensembl | |
| rs2145737319 | 843 | H>P | No | Ensembl | |
| rs1205516970 | 843 | H>Q | No |
TOPMed gnomAD |
|
| rs2145737314 | 843 | H>Y | No | Ensembl | |
| rs2145737328 | 844 | H>D | No | Ensembl | |
| rs202070031 | 845 | T>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs202070031 | 845 | T>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2145737337 | 845 | T>S | No | Ensembl | |
| rs202070031 | 845 | T>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1029166382 | 846 | P>L | No |
TOPMed gnomAD |
|
| rs886057560 | 846 | P>S | No | TOPMed | |
| rs764698803 | 847 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs2145737368 | 847 | P>L | No | Ensembl | |
| rs2145737368 | 847 | P>Q | No | Ensembl | |
| rs764698803 | 847 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs764698803 | 847 | P>T | No |
ExAC TOPMed gnomAD |
|
|
RCV000735050 rs1569107391 |
848 | S>missing | No |
ClinVar dbSNP |
|
| rs2145737375 | 848 | S>T | No | Ensembl | |
| rs894531031 | 850 | G>R | No | Ensembl | |
| rs2145737379 | 851 | A>T | No | Ensembl | |
| TCGA novel | 851 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145737385 | 852 | Q>H | No | Ensembl | |
| rs2059033826 | 852 | Q>L | No | TOPMed | |
| rs2145737387 | 853 | Q>* | No | Ensembl | |
| rs2145737389 | 853 | Q>H | No | Ensembl | |
| rs2145737395 | 854 | P>S | No | Ensembl | |
| rs1235418307 | 855 | P>L | No | gnomAD | |
| rs1012101301 | 855 | P>S | No |
TOPMed gnomAD |
|
| rs2145737404 | 856 | A>P | No | Ensembl | |
| rs2145737404 | 856 | A>T | No | Ensembl | |
| rs751375792 | 858 | T>I | No |
ExAC gnomAD |
|
| rs751375792 | 858 | T>R | No |
ExAC gnomAD |
|
| rs145714752 | 859 | I>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs754671617 | 859 | I>V | No |
ExAC gnomAD |
|
| rs2145737438 | 860 | P>T | No | Ensembl | |
| rs1257662278 | 862 | P>L | No |
TOPMed gnomAD |
|
| rs1257662278 | 862 | P>R | No |
TOPMed gnomAD |
|
| rs777976440 | 863 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs777976440 | 863 | V>L | No |
ExAC TOPMed gnomAD |
|
|
COSM1714420 rs2145737461 |
864 | P>S | skin [Cosmic] | No |
cosmic curated Ensembl |
| rs1197417099 | 865 | T>A | No |
TOPMed gnomAD |
|
| rs1419240539 | 866 | P>H | No | gnomAD | |
| rs1419240539 | 866 | P>L | No | gnomAD | |
| rs1427681457 | 866 | P>S | No |
TOPMed gnomAD |
|
| rs1427681457 | 866 | P>T | No |
TOPMed gnomAD |
|
| rs1601619713 | 867 | P>A | No | Ensembl | |
| rs2145737487 | 867 | P>L | No | Ensembl | |
|
COSM3554886 rs1601619713 |
867 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2145737490 | 868 | A>P | No | Ensembl | |
| rs2145737490 | 868 | A>S | No | Ensembl | |
| rs2145737490 | 868 | A>T | No | Ensembl | |
| rs2145737494 | 868 | A>V | No | Ensembl | |
| rs2145737499 | 869 | M>I | No | Ensembl | |
| rs2059034189 | 869 | M>V | No | Ensembl | |
| rs1471135273 | 870 | P>S | No | gnomAD | |
| rs1471135273 | 870 | P>T | No | gnomAD | |
| TCGA novel | 871 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2059034280 | 871 | P>L | No | Ensembl | |
| rs1419062360 | 871 | P>S | No | gnomAD | |
| rs2145737513 | 872 | G>A | No | Ensembl | |
| rs947846464 | 873 | P>A | No |
TOPMed gnomAD |
|
| rs2059034317 | 873 | P>R | No | gnomAD | |
|
rs2145737519 COSM254666 |
874 | Q>* | urinary_tract [Cosmic] | No |
cosmic curated Ensembl |
| rs377763622 | 874 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145737525 | 875 | S>T | No | Ensembl | |
|
RCV000120707 rs587778254 CA158486 |
876 | Q>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs587778254 | 876 | Q>R | No | gnomAD | |
| rs772289466 | 877 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs772289466 | 877 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs747453239 | 879 | H>P | No |
ExAC gnomAD |
|
| rs2145737544 | 879 | H>Y | No | Ensembl | |
| rs1216596140 | 880 | P>A | No | gnomAD | |
| rs2059034461 | 880 | P>L | No | TOPMed | |
| rs1216596140 | 880 | P>S | No | gnomAD | |
| rs1486901560 | 881 | P>H | No |
TOPMed gnomAD |
|
| rs1486901560 | 881 | P>L | No |
TOPMed gnomAD |
|
| rs1341258230 | 881 | P>S | No | TOPMed | |
| rs1341258230 | 881 | P>T | No | TOPMed | |
| rs2059034542 | 882 | P>S | No | Ensembl | |
| rs762383634 | 883 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1178542381 | 884 | Q>H | No | gnomAD | |
| rs770584503 | 884 | Q>R | No |
ExAC gnomAD |
|
| rs2145737580 | 885 | T>I | No | Ensembl | |
| rs2145737577 | 885 | T>S | No | 1000Genomes | |
| rs148308496 | 886 | P>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1436028814 | 886 | P>H | No |
TOPMed gnomAD |
|
| rs1436028814 | 886 | P>L | No |
TOPMed gnomAD |
|
| rs61757374 | 888 | P>A | No | gnomAD | |
| rs2145737597 | 888 | P>L | No | Ensembl | |
| rs61757374 | 888 | P>S | No | gnomAD | |
| rs2145737611 | 889 | P>L | No | Ensembl | |
| rs2059034746 | 889 | P>S | No | Ensembl | |
| rs2059034746 | 889 | P>T | No | Ensembl | |
| rs577396026 | 890 | T>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs200499648 | 891 | T>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1432735340 | 891 | T>I | No | gnomAD | |
| rs1432735340 | 891 | T>K | No | gnomAD | |
| rs1432735340 | 891 | T>R | No | gnomAD | |
| rs2145737635 | 893 | L>F | No | Ensembl | |
| rs2145737641 | 894 | P>L | No | Ensembl | |
| rs562204994 | 894 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs367737000 | 895 | Q>P | No | Ensembl | |
| rs2145737648 | 896 | Q>* | No | Ensembl | |
| rs2145737648 | 896 | Q>K | No | Ensembl | |
| rs1239883671 | 897 | V>A | No | gnomAD | |
| rs1239883671 | 897 | V>E | No | gnomAD | |
| rs1239883671 | 897 | V>G | No | gnomAD | |
|
rs1375233087 RCV002275813 |
897 | V>L | No |
ClinVar dbSNP gnomAD |
|
| rs1375233087 | 897 | V>M | No | gnomAD | |
|
COSM1236625 rs2145737669 |
898 | Q>* | autonomic_ganglia [Cosmic] | No |
cosmic curated Ensembl |
| rs2145737674 | 898 | Q>H | No | Ensembl | |
| rs947661982 | 899 | P>H | No | gnomAD | |
| rs947661982 | 899 | P>R | No | gnomAD | |
| rs1350707827 | 899 | P>S | No |
TOPMed gnomAD |
|
| rs1350707827 | 899 | P>T | No |
TOPMed gnomAD |
|
| rs2059035002 | 902 | P>R | No | TOPMed | |
| rs2059035021 | 903 | A>P | No | gnomAD | |
| rs2059035021 | 903 | A>T | No | gnomAD | |
| rs2145737690 | 903 | A>V | No | Ensembl | |
| rs1277346643 | 904 | A>E | No | gnomAD | |
| rs2145737694 | 904 | A>T | No | Ensembl | |
| rs1277346643 | 904 | A>V | No | gnomAD | |
| rs763211430 | 905 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs763211430 | 905 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs2145737705 | 906 | S>Y | No | Ensembl | |
| rs757344870 | 907 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs2145737713 | 907 | A>T | No | Ensembl | |
| rs757344870 | 907 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1601619865 | 908 | D>A | No | Ensembl | |
| rs758849844 | 908 | D>H | No |
ExAC gnomAD |
|
| rs1601619865 | 908 | D>V | No | Ensembl | |
| rs2059035180 | 909 | Q>* | No | TOPMed | |
| rs2059035180 | 909 | Q>E | No | TOPMed | |
| rs2145737738 | 910 | P>A | No | Ensembl | |
| rs747583900 | 911 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs769157336 | 911 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs2145737748 | 912 | Q>* | No | Ensembl | |
| rs1171907394 | 912 | Q>H | No | gnomAD | |
| rs1477025018 | 912 | Q>R | No |
TOPMed gnomAD |
|
| rs2145737761 | 913 | Q>* | No | Ensembl | |
| rs2059035310 | 913 | Q>P | No | TOPMed | |
| rs2059035324 | 914 | P>R | No | TOPMed | |
| rs2145737766 | 914 | P>T | No | Ensembl | |
|
COSM1284744 rs377517076 |
915 | R>C | Variant assessed as Somatic; MODERATE impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs748820220 | 915 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs748820220 | 915 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs377517076 | 915 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs148531930 | 916 | S>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2145737790 | 917 | Q>K | No | Ensembl | |
| rs2145737795 | 918 | Q>* | No | Ensembl | |
| rs774092833 | 918 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs2145737795 | 918 | Q>K | No | Ensembl | |
|
rs141403873 RCV001567218 RCV000145952 CA172144 |
919 | S>N | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs771958951 | 920 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs2145737805 | 920 | T>P | No | Ensembl | |
| rs2145737805 | 920 | T>S | No | Ensembl | |
| rs2059035483 | 921 | A>T | No | Ensembl | |
| rs2145737817 | 921 | A>V | No | Ensembl | |
| rs775141102 | 922 | A>P | No |
ExAC gnomAD |
|
| rs2059035606 | 923 | S>C | No | TOPMed | |
| rs2059035606 | 923 | S>F | No | TOPMed | |
| rs1601619922 | 924 | V>A | No | Ensembl | |
| rs1226011403 | 924 | V>I | No | TOPMed | |
|
rs587778253 CA158485 RCV000120706 |
926 | T>missing | No |
ClinGen ClinVar dbSNP |
|
| rs1308147468 | 926 | T>I | No |
TOPMed gnomAD |
|
| rs1308147468 | 926 | T>N | No |
TOPMed gnomAD |
|
| rs1601619945 | 926 | T>P | No | Ensembl | |
| rs750719207 | 927 | P>L | No |
ExAC gnomAD |
|
| rs750719207 | 927 | P>Q | No |
ExAC gnomAD |
|
| rs750719207 | 927 | P>R | No |
ExAC gnomAD |
|
| rs1274868610 | 927 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1274868610 | 927 | P>T | No |
TOPMed gnomAD |
|
| rs1601619962 | 928 | T>A | No | Ensembl | |
| rs758548160 | 928 | T>I | No |
ExAC gnomAD |
|
| rs1601619962 | 928 | T>P | No | Ensembl | |
| rs1242637692 | 929 | A>T | No | gnomAD | |
| rs2059035899 | 929 | A>V | No | gnomAD | |
|
COSM1034530 rs147198241 |
930 | P>L | endometrium [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs147198241 | 930 | P>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs1317037243 | 930 | P>S | No | TOPMed | |
| rs1317037243 | 930 | P>T | No | TOPMed | |
| rs2059035986 | 932 | L>F | No | TOPMed | |
| rs1465336902 | 932 | L>P | No | gnomAD | |
| rs2145737935 | 933 | P>L | No | Ensembl | |
| rs2059036023 | 933 | P>S | No | Ensembl | |
| rs564126491 | 934 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2145737941 | 934 | P>T | No | Ensembl | |
| rs2059036094 | 935 | Q>* | No | Ensembl | |
| rs2145737962 | 937 | A>V | No | Ensembl | |
|
RCV001797410 rs2145737964 |
938 | T>A | No |
ClinVar Ensembl dbSNP |
|
| rs2145737964 | 938 | T>S | No | Ensembl | |
| rs2145737971 | 939 | P>A | No | Ensembl | |
| rs2145737984 | 939 | P>R | No | Ensembl | |
| rs2145737971 | 939 | P>T | No | Ensembl | |
| COSM1034532 | 940 | L>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2145739746 | 942 | Q>K | No | Ensembl | |
| rs2059047388 | 943 | P>S | No | TOPMed | |
| rs776566287 | 944 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs776566287 | 944 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs747913710 | 945 | V>I | No |
ExAC gnomAD |
|
|
rs2059047440 RCV001751902 |
946 | S>R | No |
ClinVar TOPMed dbSNP |
|
| rs1364798285 | 947 | I>F | No |
TOPMed gnomAD |
|
|
rs769634882 COSM1291254 |
947 | I>T | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs1364798285 | 947 | I>V | No |
TOPMed gnomAD |
|
| rs2145739782 | 948 | E>D | No | Ensembl | |
| COSM1416472 | 949 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2145739785 | 949 | G>R | No | Ensembl | |
| rs2145739787 | 950 | Q>* | No | Ensembl | |
| rs1157162767 | 950 | Q>L | No | gnomAD | |
| rs2145739792 | 951 | V>E | No | Ensembl | |
| rs185943038 | 952 | S>P | No |
1000Genomes ExAC gnomAD |
|
| rs2059047570 | 953 | N>D | No | gnomAD | |
| rs1208697239 | 953 | N>I | No | gnomAD | |
| rs1304109853 | 954 | P>R | No | gnomAD | |
| rs1435830772 | 954 | P>T | No |
TOPMed gnomAD |
|
| rs2059047642 | 955 | P>A | No | Ensembl | |
| rs61758152 | 956 | S>C | No | TOPMed | |
| rs1336264533 | 956 | S>P | No | TOPMed | |
| rs1158998511 | 957 | T>A | No |
TOPMed gnomAD |
|
| rs774604668 | 957 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs774604668 | 957 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs368761748 | 958 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs767934388 | 958 | S>N | No |
ExAC gnomAD |
|
|
RCV001551350 rs1308182502 |
959 | S>I | No |
ClinVar dbSNP gnomAD |
|
| TCGA novel | 959 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 961 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2059047848 | 962 | V>M | No | Ensembl | |
| rs753062814 | 963 | N>S | No |
ExAC gnomAD |
|
| rs1342949087 | 964 | S>C | No | gnomAD | |
| rs1342949087 | 964 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2059047949 | 965 | Q>* | No | Ensembl | |
| rs374345478 | 965 | Q>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs374345478 | 965 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1601621208 | 966 | A>D | No | Ensembl | |
| rs2145739899 | 966 | A>T | No | Ensembl | |
| rs1601621208 | 966 | A>V | No | Ensembl | |
| rs1251522603 | 967 | I>L | No |
TOPMed gnomAD |
|
| rs754327481 | 967 | I>S | No |
ExAC TOPMed gnomAD |
|
| rs1251522603 | 967 | I>V | No |
TOPMed gnomAD |
|
| rs747887653 | 968 | A>D | No |
ExAC gnomAD |
|
| rs747887653 | 968 | A>G | No |
ExAC gnomAD |
|
| rs2145739919 | 968 | A>P | No | Ensembl | |
| rs747887653 | 968 | A>V | No |
ExAC gnomAD |
|
| rs367954257 | 969 | E>K | No |
ESP TOPMed |
|
| rs962656169 | 970 | K>R | No | TOPMed | |
| rs1237911107 | 971 | Q>* | No | gnomAD | |
| rs779702196 | 971 | Q>H | No |
ExAC gnomAD |
|
| rs1237911107 | 971 | Q>K | No | gnomAD | |
| TCGA novel | 971 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs372133519 | 972 | P>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs1375484182 | 972 | P>L | No |
TOPMed gnomAD |
|
| rs780935417 | 973 | S>A | No |
ExAC gnomAD |
|
| rs2145739966 | 974 | Q>K | No | Ensembl | |
|
rs747919289 COSM1205368 |
974 | Q>R | large_intestine [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs1228197874 | 975 | E>V | No | TOPMed | |
| rs1286014640 | 976 | V>M | No | TOPMed | |
| rs749225428 | 977 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs2059048338 | 978 | M>I | No | Ensembl | |
| rs771056612 | 978 | M>K | No |
ExAC TOPMed gnomAD |
|
| rs918284554 | 980 | A>T | No | Ensembl | |
| rs774408703 | 980 | A>V | No |
ExAC gnomAD |
|
| rs930217973 | 981 | K>E | No | Ensembl | |
| rs759543952 | 981 | K>R | No |
ExAC gnomAD |
|
| rs2059048426 | 982 | M>I | No | Ensembl | |
| TCGA novel | 982 | M>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1344794415 | 983 | E>K | No | TOPMed | |
| rs2145740017 | 984 | V>E | No | Ensembl | |
| rs2059048484 | 985 | D>E | No | Ensembl | |
| rs1232641756 | 985 | D>G | No | gnomAD | |
| rs943723908 | 985 | D>N | No | TOPMed | |
| rs1258741946 | 986 | Q>P | No | gnomAD | |
| rs2059048525 | 987 | P>S | No | Ensembl | |
| rs2059048566 | 989 | P>A | No | gnomAD | |
| rs2145740054 | 989 | P>Q | No | Ensembl | |
| rs2059048566 | 989 | P>S | No | gnomAD | |
| rs987040002 | 990 | A>T | No | gnomAD | |
| rs2145740065 | 990 | A>V | No | Ensembl | |
| rs772291437 | 991 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs775729787 | 992 | T>A | No |
ExAC gnomAD |
|
|
RCV001754788 rs760974878 |
992 | T>N | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs760974878 | 992 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs2145740077 | 994 | P>A | No | Ensembl | |
| rs764485471 | 994 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs764485471 | 994 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs2145740077 | 994 | P>S | No | Ensembl | |
| rs2145740077 | 994 | P>T | No | Ensembl | |
|
RCV001772901 rs1555909666 |
995 | E>K | No |
ClinVar Ensembl dbSNP |
|
| rs1193303632 | 996 | D>G | No | gnomAD | |
| rs942887282 | 996 | D>Y | No | gnomAD | |
| rs2059050200 | 1000 | S>A | No | Ensembl | |
| rs1434557433 | 1000 | S>C | No |
TOPMed gnomAD |
|
| rs1434557433 | 1000 | S>F | No |
TOPMed gnomAD |
|
| rs2059050200 | 1000 | S>P | No | Ensembl | |
| rs2059050200 | 1000 | S>T | No | Ensembl | |
| rs1434557433 | 1000 | S>Y | No |
TOPMed gnomAD |
|
| rs2145740584 | 1001 | K>* | No | Ensembl | |
| rs2145740584 | 1001 | K>E | No | Ensembl | |
| rs2145740590 | 1001 | K>I | No | Ensembl | |
| rs1484054044 | 1001 | K>N | No | gnomAD | |
| rs2145740584 | 1001 | K>Q | No | Ensembl | |
| rs2059050253 | 1002 | V>A | No | Ensembl | |
| rs2145740601 | 1002 | V>L | No | Ensembl | |
| rs2145740601 | 1002 | V>M | No | Ensembl | |
| rs2145740613 | 1003 | E>* | No | Ensembl | |
| rs2145740621 | 1003 | E>D | No | Ensembl | |
| rs2145740616 | 1003 | E>G | No | Ensembl | |
| rs2145740613 | 1003 | E>K | No | Ensembl | |
| rs2145740613 | 1003 | E>Q | No | Ensembl | |
| rs2145740616 | 1003 | E>V | No | Ensembl | |
| rs2145740634 | 1004 | D>E | No | Ensembl | |
| rs767033317 | 1004 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs2145740624 | 1004 | D>H | No | Ensembl | |
| rs2145740624 | 1004 | D>N | No | Ensembl | |
| rs767033317 | 1004 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs2059050296 | 1005 | C>R | No | Ensembl | |
| rs1412870015 | 1005 | C>S | No | gnomAD | |
| rs1412870015 | 1005 | C>Y | No | gnomAD | |
| rs1419447951 | 1006 | K>* | No |
TOPMed gnomAD |
|
| rs1419447951 | 1006 | K>E | No |
TOPMed gnomAD |
|
| rs2145740649 | 1006 | K>I | No | Ensembl | |
| rs2145740652 | 1006 | K>N | No | Ensembl | |
| rs2145740661 | 1007 | M>I | No | Ensembl | |
| rs1457700018 | 1007 | M>L | No |
TOPMed gnomAD |
|
| rs2059050391 | 1007 | M>R | No |
TOPMed gnomAD |
|
| rs2059050391 | 1007 | M>T | No |
TOPMed gnomAD |
|
| rs1457700018 | 1007 | M>V | No |
TOPMed gnomAD |
|
| rs2145740665 | 1008 | E>* | No | Ensembl | |
| rs2145740675 | 1008 | E>D | No | Ensembl | |
| rs2145740670 | 1008 | E>G | No | Ensembl | |
| rs2145740665 | 1008 | E>K | No | Ensembl | |
| rs2145740665 | 1008 | E>Q | No | Ensembl | |
| rs2145740670 | 1008 | E>V | No | Ensembl | |
| rs2145740680 | 1009 | S>A | No | Ensembl | |
| rs2145740686 | 1009 | S>C | No | Ensembl | |
| rs2145740686 | 1009 | S>F | No | Ensembl | |
| rs2145740680 | 1009 | S>P | No | Ensembl | |
| rs2145740680 | 1009 | S>T | No | Ensembl | |
| rs2145740686 | 1009 | S>Y | No | Ensembl | |
| rs1160165961 | 1010 | T>A | No | gnomAD | |
| rs2145740701 | 1010 | T>I | No | Ensembl | |
| rs2145740701 | 1010 | T>N | No | Ensembl | |
| rs1160165961 | 1010 | T>P | No | gnomAD | |
| rs2145740701 | 1010 | T>S | No | Ensembl | |
| rs1160165961 | 1010 | T>S | No | gnomAD | |
| rs2145740728 | 1011 | E>D | No | Ensembl | |
| rs775368605 | 1011 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs2145740726 | 1011 | E>V | No | Ensembl | |
| rs2145740733 | 1012 | T>A | No | Ensembl | |
| rs1158151813 | 1012 | T>I | No |
TOPMed gnomAD |
|
| rs1158151813 | 1012 | T>K | No |
TOPMed gnomAD |
|
| rs1158151813 | 1012 | T>R | No |
TOPMed gnomAD |
|
| rs2145740733 | 1012 | T>S | No | Ensembl | |
| rs2145740759 | 1013 | E>D | No | Ensembl | |
|
rs1234168115 COSM96423 VAR_014429 |
1013 | E>G | large_intestine breast a breast cancer sample [Cosmic, UniProt] | No |
cosmic curated UniProt TOPMed dbSNP gnomAD |
| rs2145740752 | 1013 | E>K | No | Ensembl | |
| rs2145740752 | 1013 | E>Q | No | Ensembl | |
|
rs1601621480 RCV001008470 |
1014 | E>missing | No |
ClinVar dbSNP |
|
|
COSM96511 rs2145740765 |
1014 | E>* | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs2145740777 | 1014 | E>D | No | Ensembl | |
| rs2145740765 | 1014 | E>K | No | Ensembl | |
| rs2145740765 | 1014 | E>Q | No | Ensembl | |
| rs2145740772 | 1014 | E>V | No | Ensembl | |
| rs2145740784 | 1015 | R>* | No | Ensembl | |
| rs2145740784 | 1015 | R>G | No | Ensembl | |
| rs2145740795 | 1015 | R>I | No | Ensembl | |
| rs2145740795 | 1015 | R>K | No | Ensembl | |
| rs756993580 | 1015 | R>S | No |
ExAC gnomAD |
|
| rs2145740795 | 1015 | R>T | No | Ensembl | |
| rs2145740801 | 1016 | S>C | No | Ensembl | |
| rs2145740801 | 1016 | S>G | No | Ensembl | |
| rs200558984 | 1016 | S>I | No |
1000Genomes ExAC gnomAD |
|
| rs2145740810 | 1017 | T>I | No | Ensembl | |
| rs2145740810 | 1017 | T>N | No | Ensembl | |
| rs2145740808 | 1017 | T>S | No | Ensembl | |
| rs2145740810 | 1017 | T>S | No | Ensembl | |
|
rs912824248 COSM5818110 |
1018 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2059050645 | 1018 | E>A | No |
TOPMed gnomAD |
|
| rs2145740823 | 1018 | E>D | No | Ensembl | |
| rs912824248 | 1018 | E>K | No | Ensembl | |
| rs912824248 | 1018 | E>Q | No | Ensembl | |
| rs2059050645 | 1018 | E>V | No |
TOPMed gnomAD |
|
| rs2145740830 | 1019 | L>F | No | Ensembl | |
| rs2145740827 | 1019 | L>I | No | Ensembl | |
| rs2145740827 | 1019 | L>V | No | Ensembl | |
| rs2145740836 | 1020 | K>* | No | Ensembl | |
| rs2145740839 | 1020 | K>I | No | Ensembl | |
| rs1601621496 | 1020 | K>N | No | Ensembl | |
| rs2145740839 | 1020 | K>R | No | Ensembl | |
| rs2145740852 | 1021 | T>I | No | Ensembl | |
| rs2145740852 | 1021 | T>N | No | Ensembl | |
| rs2145740845 | 1021 | T>S | No | Ensembl | |
| rs2145740852 | 1021 | T>S | No | Ensembl | |
| rs2145740864 | 1022 | E>* | No | Ensembl | |
| rs2145740864 | 1022 | E>K | No | Ensembl | |
| rs2145740864 | 1022 | E>Q | No | Ensembl | |
| rs2145740866 | 1022 | E>V | No | Ensembl | |
| rs2145740880 | 1023 | I>L | No | Ensembl | |
| rs2145740899 | 1024 | K>* | No | Ensembl | |
| rs2145740903 | 1024 | K>I | No | Ensembl | |
| rs2145740910 | 1025 | E>D | No | Ensembl | |
| rs1304596486 | 1025 | E>G | No | TOPMed | |
| rs1448005255 | 1025 | E>K | No | gnomAD | |
| rs1448005255 | 1025 | E>Q | No | gnomAD | |
| rs1304596486 | 1025 | E>V | No | TOPMed | |
| rs2145740918 | 1026 | E>G | No | Ensembl | |
|
TCGA novel rs2145740913 |
1026 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2145740913 | 1026 | E>Q | No | Ensembl | |
| rs2145740918 | 1026 | E>V | No | Ensembl | |
| rs1311854931 | 1027 | E>A | No |
TOPMed gnomAD |
|
| rs2145740935 | 1027 | E>D | No | Ensembl | |
| rs1311854931 | 1027 | E>G | No |
TOPMed gnomAD |
|
| rs2145740925 | 1027 | E>K | No | Ensembl | |
| rs2145740925 | 1027 | E>Q | No | Ensembl | |
| rs1311854931 | 1027 | E>V | No |
TOPMed gnomAD |
|
| rs1601621523 | 1028 | D>A | No | Ensembl | |
| rs746999540 | 1028 | D>E | No |
ExAC gnomAD |
|
| rs780182045 | 1028 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs780182045 | 1028 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs780182045 | 1028 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs2145740950 | 1029 | Q>L | No | Ensembl | |
| rs2145740952 | 1030 | P>A | No | Ensembl | |
| rs2145740958 | 1030 | P>L | No | Ensembl | |
| rs2145740958 | 1030 | P>Q | No | Ensembl | |
| rs2145740958 | 1030 | P>R | No | Ensembl | |
| rs2145740952 | 1030 | P>S | No | Ensembl | |
| rs2145740952 | 1030 | P>T | No | Ensembl | |
| rs1278777066 | 1031 | S>G | No | gnomAD | |
| rs2145740975 | 1031 | S>N | No | Ensembl | |
| rs1778881265 | 1031 | S>R | No | Ensembl | |
| rs1278777066 | 1031 | S>R | No | gnomAD | |
| rs2145740975 | 1031 | S>T | No | Ensembl | |
| rs1313424704 | 1032 | T>A | No |
TOPMed gnomAD |
|
| rs2145740988 | 1032 | T>I | No | 1000Genomes | |
| rs2145740988 | 1032 | T>N | No | 1000Genomes | |
| rs1313424704 | 1032 | T>P | No |
TOPMed gnomAD |
|
| rs2145740988 | 1032 | T>S | No | 1000Genomes | |
| rs1313424704 | 1032 | T>S | No |
TOPMed gnomAD |
|
| rs1601621541 | 1033 | S>* | No | TOPMed | |
| rs2145740997 | 1033 | S>A | No | Ensembl | |
| rs1601621541 | 1033 | S>L | No | TOPMed | |
| rs2145740997 | 1033 | S>P | No | Ensembl | |
| rs2145740997 | 1033 | S>T | No | Ensembl | |
| rs2145741014 | 1034 | A>D | No | Ensembl | |
| rs2145741014 | 1034 | A>G | No | Ensembl | |
| rs2145741009 | 1034 | A>P | No | Ensembl | |
| rs2145741009 | 1034 | A>S | No | Ensembl | |
| rs2145741009 | 1034 | A>T | No | Ensembl | |
| rs2145741014 | 1034 | A>V | No | Ensembl | |
| rs2145741034 | 1035 | T>I | No | Ensembl | |
| rs2145741034 | 1035 | T>N | No | Ensembl | |
| rs2145741034 | 1035 | T>S | No | Ensembl | |
| rs2145741028 | 1035 | T>S | No | Ensembl | |
| rs1180296301 | 1036 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1180296301 | 1036 | Q>E | No | gnomAD | |
| rs2059051010 | 1036 | Q>H | No | Ensembl | |
| rs1180296301 | 1036 | Q>K | No | gnomAD | |
| rs748555887 | 1036 | Q>L | No |
ExAC TOPMed gnomAD |
|
| rs748555887 | 1036 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs2059051031 | 1037 | S>L | No | Ensembl | |
| rs2145741059 | 1037 | S>P | No | Ensembl | |
| rs2145741059 | 1037 | S>T | No | Ensembl | |
| rs2145741075 | 1038 | S>C | No | Ensembl | |
| rs2145741075 | 1038 | S>F | No | Ensembl | |
| rs2145741071 | 1038 | S>T | No | Ensembl | |
| rs2145741075 | 1038 | S>Y | No | Ensembl | |
| rs770254783 | 1039 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2145741082 | 1039 | P>S | No | Ensembl | |
| rs2145741102 | 1040 | A>D | No | Ensembl | |
| rs2145741102 | 1040 | A>G | No | Ensembl | |
| rs2145741097 | 1040 | A>P | No | Ensembl | |
| rs2145741097 | 1040 | A>S | No | Ensembl | |
| rs2145741102 | 1040 | A>V | No | Ensembl | |
| rs1191694445 | 1041 | P>L | No |
TOPMed gnomAD |
|
| rs1191694445 | 1041 | P>Q | No |
TOPMed gnomAD |
|
| rs1191694445 | 1041 | P>R | No |
TOPMed gnomAD |
|
| rs2145741106 | 1041 | P>S | No | Ensembl | |
| rs2145741106 | 1041 | P>T | No | Ensembl | |
| rs1445263887 | 1042 | G>A | No | gnomAD | |
| rs1445263887 | 1042 | G>E | No | gnomAD | |
|
rs2145741121 COSM359759 |
1042 | G>R | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs1445263887 | 1042 | G>V | No | gnomAD | |
|
COSM4385250 rs2145741136 |
1043 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2145741136 | 1043 | Q>E | No | Ensembl | |
| rs2145741149 | 1043 | Q>H | No | Ensembl | |
| rs2145741136 | 1043 | Q>K | No | Ensembl | |
| rs2145741145 | 1043 | Q>L | No | Ensembl | |
| rs2145741145 | 1043 | Q>R | No | Ensembl | |
| rs2145741158 | 1044 | S>* | No | Ensembl | |
| rs2145741158 | 1044 | S>L | No | Ensembl | |
| rs2145741153 | 1044 | S>P | No | Ensembl | |
| rs2145741153 | 1044 | S>T | No | Ensembl | |
| rs2145741169 | 1045 | K>* | No | Ensembl | |
| COSM3153131 | 1045 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2059051354 | 1047 | K>E | No | Ensembl | |
| rs763541064 | 1047 | K>N | No |
ExAC gnomAD |
|
| rs2059051385 | 1047 | K>R | No | Ensembl | |
| TCGA novel | 1047 | K>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145741191 | 1048 | I>F | No | Ensembl | |
| rs2145741191 | 1048 | I>L | No | Ensembl | |
| rs2145744498 | 1048 | I>N | No | Ensembl | |
| rs2145744498 | 1048 | I>T | No | Ensembl | |
| rs2145744527 | 1049 | F>L | No | Ensembl | |
| rs2145744512 | 1049 | F>L | No | Ensembl | |
| rs2145744520 | 1049 | F>S | No | Ensembl | |
| rs2145744520 | 1049 | F>Y | No | Ensembl | |
| rs2145744533 | 1050 | K>* | No | Ensembl | |
| rs2145744536 | 1050 | K>I | No | Ensembl | |
| rs2145744543 | 1051 | P>A | No | Ensembl | |
|
RCV001773204 rs2145744549 |
1051 | P>L | No |
ClinVar Ensembl dbSNP |
|
| rs2145744549 | 1051 | P>Q | No | Ensembl | |
| rs2145744549 | 1051 | P>R | No | Ensembl | |
| rs2145744543 | 1051 | P>S | No | Ensembl | |
| rs2145744567 | 1052 | E>D | No | Ensembl | |
| rs2145744564 | 1052 | E>K | No | Ensembl | |
| rs2145744564 | 1052 | E>Q | No | Ensembl | |
| rs2145744579 | 1053 | E>A | No | Ensembl | |
| rs1316859635 | 1053 | E>D | No | gnomAD | |
| rs2059068845 | 1053 | E>K | No | Ensembl | |
| rs2059068845 | 1053 | E>Q | No | Ensembl | |
| rs2145744595 | 1054 | L>Q | No | Ensembl | |
| rs886041830 | 1055 | R>G | No | Ensembl | |
| rs2145744613 | 1055 | R>P | No | Ensembl | |
|
TCGA novel rs2145744613 |
1055 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs1601623271 | 1056 | Q>E | No | Ensembl | |
| rs2145744636 | 1056 | Q>H | No | Ensembl | |
| rs2145744628 | 1056 | Q>L | No | Ensembl | |
| rs2145744628 | 1056 | Q>R | No | Ensembl | |
| rs1029271881 | 1057 | A>E | No | TOPMed | |
| rs1029271881 | 1057 | A>G | No | TOPMed | |
| rs2145744640 | 1057 | A>P | No | Ensembl | |
| rs2145744640 | 1057 | A>T | No | Ensembl | |
| rs1029271881 | 1057 | A>V | No | TOPMed | |
| rs2145744660 | 1058 | L>M | No | Ensembl | |
| rs2145744667 | 1058 | L>P | No | Ensembl | |
| rs2145744667 | 1058 | L>Q | No | Ensembl | |
| rs2145744660 | 1058 | L>V | No | Ensembl | |
| rs2059069000 | 1059 | M>I | No | TOPMed | |
| rs2145744682 | 1059 | M>K | No | Ensembl | |
| rs2145744676 | 1059 | M>L | No | Ensembl | |
| rs2145744682 | 1059 | M>R | No | Ensembl | |
| rs2145744676 | 1059 | M>V | No | Ensembl | |
| rs2059069019 | 1060 | P>A | No | Ensembl | |
| rs2145744700 | 1060 | P>Q | No | Ensembl | |
| rs2145744700 | 1060 | P>R | No | Ensembl | |
| rs2059069019 | 1060 | P>T | No | Ensembl | |
| rs1220712414 | 1061 | T>A | No | gnomAD | |
| rs2059069080 | 1061 | T>S | No | Ensembl | |
| rs1220712414 | 1061 | T>S | No | gnomAD | |
| rs1488654362 | 1062 | L>F | No | gnomAD | |
| rs2145744746 | 1063 | E>D | No | Ensembl | |
| rs2145744741 | 1063 | E>G | No | Ensembl | |
| rs2145744734 | 1063 | E>K | No | Ensembl | |
| rs2145744734 | 1063 | E>Q | No | Ensembl | |
| rs2145744741 | 1063 | E>V | No | Ensembl | |
| rs2145744753 | 1064 | A>P | No | Ensembl | |
| rs2145744753 | 1064 | A>T | No | Ensembl | |
| rs1195853173 | 1064 | A>V | No | gnomAD | |
| rs2145744761 | 1065 | L>H | No | Ensembl | |
| rs2145744776 | 1066 | Y>* | No | Ensembl | |
| rs2145744771 | 1066 | Y>F | No | Ensembl | |
| rs2145744771 | 1066 | Y>S | No | Ensembl | |
| rs776310672 | 1067 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs776310672 | 1067 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs2059069219 | 1067 | R>H | No |
TOPMed gnomAD |
|
| rs2059069219 | 1067 | R>P | No |
TOPMed gnomAD |
|
| rs776310672 | 1067 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs2145744789 | 1068 | Q>E | No | Ensembl | |
| rs2145744789 | 1068 | Q>K | No | Ensembl | |
|
RCV001806621 rs2145744796 |
1069 | D>N | No |
ClinVar Ensembl dbSNP |
|
| rs2145744800 | 1070 | P>A | No | Ensembl | |
| rs2145744807 | 1070 | P>Q | No | Ensembl | |
| rs2145744807 | 1070 | P>R | No | Ensembl | |
| rs2145744800 | 1070 | P>S | No | Ensembl | |
| rs2145744800 | 1070 | P>T | No | Ensembl | |
| rs761438118 | 1071 | E>D | No |
ExAC gnomAD |
|
| rs2145744818 | 1071 | E>K | No | Ensembl | |
| rs2145744818 | 1071 | E>Q | No | Ensembl | |
| rs2145744832 | 1072 | S>C | No | Ensembl | |
| rs2145744832 | 1072 | S>F | No | Ensembl | |
| rs2145744832 | 1072 | S>Y | No | Ensembl | |
| rs2145744844 | 1073 | L>F | No | Ensembl | |
| rs2145744844 | 1073 | L>I | No | Ensembl | |
| rs2145744844 | 1073 | L>V | No | Ensembl | |
| rs2145744856 | 1074 | P>A | No | Ensembl | |
| rs2145744863 | 1074 | P>H | No | Ensembl | |
| rs2145744863 | 1074 | P>L | No | Ensembl | |
| rs2145744863 | 1074 | P>R | No | Ensembl | |
|
COSM4991528 rs2145744856 |
1074 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2145744856 | 1074 | P>T | No | Ensembl | |
|
rs750235600 COSM5859455 |
1076 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs750235600 | 1076 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs2145744876 | 1076 | R>H | No | Ensembl | |
| rs2145744876 | 1076 | R>P | No | Ensembl | |
| rs750235600 | 1076 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs2145744888 | 1077 | Q>E | No | Ensembl | |
| rs751423301 | 1077 | Q>H | No |
ExAC gnomAD |
|
| rs2145744888 | 1077 | Q>K | No | Ensembl | |
| rs2145744896 | 1078 | P>A | No | Ensembl | |
|
COSM1714421 rs896289522 |
1078 | P>L | skin [Cosmic] | No |
cosmic curated Ensembl |
| rs2145744896 | 1078 | P>T | No | Ensembl | |
| rs2145744910 | 1079 | V>L | No | Ensembl | |
| rs2145744910 | 1079 | V>M | No | Ensembl | |
| rs2059069436 | 1080 | D>H | No |
TOPMed gnomAD |
|
| rs2059069436 | 1080 | D>N | No |
TOPMed gnomAD |
|
| rs1401321985 | 1082 | Q>H | No | gnomAD | |
| rs1461863256 | 1083 | L>F | No |
TOPMed gnomAD |
|
| rs1198563248 | 1089 | Y>* | No |
TOPMed gnomAD |
|
| rs2059082079 | 1091 | D>N | No | Ensembl | |
| rs1014185175 | 1094 | K>T | No | TOPMed | |
|
COSM419539 rs1270990992 |
1095 | S>I | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
| rs1270662372 | 1097 | M>L | No | Ensembl | |
| TCGA novel | 1099 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145747216 | 1100 | S>Y | No | Ensembl | |
| rs1001603740 | 1102 | I>M | No | Ensembl | |
| rs2059082221 | 1102 | I>V | No | gnomAD | |
| rs1287768278 | 1105 | K>T | No | gnomAD | |
| rs1177303075 | 1107 | D>E | No | gnomAD | |
| rs2145747245 | 1108 | T>N | No | Ensembl | |
| TCGA novel | 1109 | G>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374163115 CA10604851 RCV000273129 |
1110 | Q>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1173758442 | 1111 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1466110187 | 1111 | Y>H | No | gnomAD | |
| rs1273250543 | 1112 | Q>* | No |
TOPMed gnomAD |
|
| rs1273250543 | 1112 | Q>E | No |
TOPMed gnomAD |
|
| rs2145747271 | 1112 | Q>H | No | Ensembl | |
| rs1273250543 | 1112 | Q>K | No |
TOPMed gnomAD |
|
| rs2145747270 | 1112 | Q>R | No | Ensembl | |
| rs2145747276 | 1113 | E>* | No | Ensembl | |
| rs2145747282 | 1113 | E>G | No | Ensembl | |
| rs2145747276 | 1113 | E>K | No | Ensembl | |
|
COSM1034538 rs2145747282 |
1113 | E>V | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs747691752 | 1114 | P>S | No |
ExAC gnomAD |
|
| rs747691752 | 1114 | P>T | No |
ExAC gnomAD |
|
| rs2145747305 | 1115 | W>* | No | Ensembl | |
| rs1569110906 | 1115 | W>* | No | Ensembl | |
| rs2145747305 | 1115 | W>C | No | Ensembl | |
| rs2145747298 | 1115 | W>R | No | Ensembl | |
| rs1569110906 | 1115 | W>S | No | Ensembl | |
| rs20554 | 1116 | Q>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2145747315 | 1117 | Y>D | No | Ensembl | |
| rs2145747318 | 1117 | Y>F | No | Ensembl | |
| rs2145747315 | 1117 | Y>H | No | Ensembl | |
| rs2145747330 | 1118 | V>A | No | Ensembl | |
| rs2145747330 | 1118 | V>D | No | Ensembl | |
| rs2145747330 | 1118 | V>G | No | Ensembl | |
| rs368486518 | 1118 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs368486518 | 1118 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1305496497 | 1119 | D>E | No |
TOPMed gnomAD |
|
| rs2145747351 | 1119 | D>G | No | Ensembl | |
| rs759315982 | 1119 | D>H | No |
ExAC gnomAD |
|
|
COSM1034540 rs759315982 |
1119 | D>N | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs2145747351 | 1119 | D>V | No | Ensembl | |
| rs759315982 | 1119 | D>Y | No |
ExAC gnomAD |
|
| rs2145747360 | 1120 | D>E | No | Ensembl | |
| rs2145747358 | 1120 | D>G | No | Ensembl | |
| rs767582855 | 1120 | D>H | No |
ExAC gnomAD |
|
| rs767582855 | 1120 | D>N | No |
ExAC gnomAD |
|
| rs2145747358 | 1120 | D>V | No | Ensembl | |
|
COSM318353 rs767582855 |
1120 | D>Y | lung [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs775528334 | 1121 | I>T | No |
ExAC gnomAD |
|
| rs2145747382 | 1122 | W>* | No | Ensembl | |
| rs2145747382 | 1122 | W>C | No | Ensembl | |
|
TCGA novel rs2145747375 |
1122 | W>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2145747375 | 1122 | W>S | No | Ensembl | |
| rs1555910120 | 1123 | L>F | No | Ensembl | |
| rs1555910120 | 1123 | L>I | No | Ensembl | |
| rs2145747391 | 1123 | L>P | No | Ensembl | |
| rs1555910120 | 1123 | L>V | No | Ensembl | |
| rs2145747401 | 1124 | M>I | No | Ensembl | |
| rs2145747396 | 1124 | M>L | No | Ensembl | |
| rs2145747396 | 1124 | M>V | No | Ensembl | |
| rs149806482 | 1125 | F>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145747405 | 1125 | F>V | No | Ensembl | |
| rs2145747409 | 1125 | F>Y | No | Ensembl | |
| rs2145747417 | 1126 | N>Y | No | Ensembl | |
| rs2145747427 | 1127 | N>D | No | Ensembl | |
| rs2145747432 | 1127 | N>I | No | Ensembl | |
| rs750559237 | 1127 | N>K | No | Ensembl | |
| rs2145747427 | 1127 | N>Y | No | Ensembl | |
| rs2145747443 | 1128 | A>D | No | Ensembl | |
| rs2145747443 | 1128 | A>G | No | Ensembl | |
| rs2145747439 | 1128 | A>P | No | Ensembl | |
| rs2145747439 | 1128 | A>T | No | Ensembl | |
| rs2145747443 | 1128 | A>V | No | Ensembl | |
| rs2145747456 | 1129 | W>* | No | Ensembl | |
| rs2145747451 | 1129 | W>* | No | Ensembl | |
|
TCGA novel rs2145747456 |
1129 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2145747451 | 1129 | W>L | No | Ensembl | |
| rs2145747451 | 1129 | W>S | No | Ensembl | |
| rs986865243 | 1130 | L>F | No | Ensembl | |
| rs2145747464 | 1131 | Y>D | No | Ensembl | |
| rs2145747472 | 1131 | Y>F | No | Ensembl | |
| rs2145747464 | 1131 | Y>H | No | Ensembl | |
|
rs2145747464 COSM1632621 |
1131 | Y>N | liver [Cosmic] | No |
cosmic curated Ensembl |
| rs2145747480 | 1132 | N>I | No | Ensembl | |
| rs2145747487 | 1132 | N>K | No | Ensembl | |
| rs2145747480 | 1132 | N>S | No | Ensembl | |
| rs2145747474 | 1132 | N>Y | No | Ensembl | |
| rs1203250209 | 1133 | R>G | No | gnomAD | |
| rs2145747503 | 1133 | R>L | No | Ensembl | |
| rs2145747503 | 1133 | R>P | No | Ensembl | |
| rs2145747503 | 1133 | R>Q | No | Ensembl | |
| rs1203250209 | 1133 | R>W | No | gnomAD | |
| rs2145747505 | 1134 | K>* | No | Ensembl | |
| rs2145747513 | 1134 | K>I | No | Ensembl | |
| rs2059082812 | 1134 | K>N | No | Ensembl | |
| rs2059082822 | 1135 | T>A | No | Ensembl | |
| rs2145747527 | 1135 | T>I | No | Ensembl | |
| rs2059082822 | 1135 | T>P | No | Ensembl | |
| rs2145747527 | 1135 | T>R | No | Ensembl | |
| rs2059082822 | 1135 | T>S | No | Ensembl | |
| rs2145747537 | 1136 | S>* | No | Ensembl | |
| rs2145747537 | 1136 | S>L | No | Ensembl | |
| rs754143540 | 1137 | R>G | No |
ExAC gnomAD |
|
|
COSM318354 rs757413185 |
1137 | R>L | lung [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs757413185 | 1137 | R>P | No |
ExAC gnomAD |
|
| rs757413185 | 1137 | R>Q | No |
ExAC gnomAD |
|
| rs754143540 | 1137 | R>W | No |
ExAC gnomAD |
|
|
rs1555910122 CA16621125 RCV000479597 |
1138 | V>missing | No |
ClinGen ClinVar dbSNP |
|
| rs2145747583 | 1138 | V>A | No | Ensembl | |
| rs2145747583 | 1138 | V>E | No | Ensembl | |
| rs2145747583 | 1138 | V>G | No | Ensembl | |
| rs2145747576 | 1138 | V>I | No | Ensembl | |
| rs2145747576 | 1138 | V>L | No | Ensembl | |
| rs952398016 | 1139 | Y>* | No | TOPMed | |
|
rs2145747595 COSM1416475 |
1139 | Y>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2145747595 | 1139 | Y>F | No | Ensembl | |
|
TCGA novel rs2145747591 |
1139 | Y>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2145747603 | 1140 | K>* | No | Ensembl | |
| rs2145747613 | 1140 | K>N | No | Ensembl | |
| rs2145747603 | 1140 | K>Q | No | Ensembl | |
| rs2145747609 | 1140 | K>R | No | Ensembl | |
| rs2145747628 | 1141 | Y>* | No | Ensembl | |
| rs2145747624 | 1141 | Y>C | No | Ensembl | |
| rs2145747619 | 1141 | Y>D | No | Ensembl | |
| rs2145747624 | 1141 | Y>F | No | Ensembl | |
| rs2145747619 | 1141 | Y>H | No | Ensembl | |
| rs2145747619 | 1141 | Y>N | No | Ensembl | |
| rs2145747624 | 1141 | Y>S | No | Ensembl | |
| rs76268515 | 1142 | C>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2145747635 | 1142 | C>R | No | Ensembl | |
| rs2145747639 | 1142 | C>S | No | Ensembl | |
| rs2145747635 | 1142 | C>S | No | Ensembl | |
| rs76268515 | 1142 | C>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2145747639 | 1142 | C>Y | No | Ensembl | |
|
rs2059082907 RCV001310811 |
1143 | S>C | No |
ClinVar Ensembl dbSNP |
|
| rs2059082907 | 1143 | S>F | No | Ensembl | |
| rs2145747655 | 1143 | S>P | No | Ensembl | |
| rs2145747655 | 1143 | S>T | No | Ensembl | |
| rs2145747673 | 1144 | K>* | No | Ensembl | |
| rs1422775274 | 1144 | K>M | No |
TOPMed gnomAD |
|
| rs2145747680 | 1144 | K>N | No | Ensembl | |
| rs1422775274 | 1144 | K>R | No |
TOPMed gnomAD |
|
| rs2145747687 | 1145 | L>F | No | Ensembl | |
| rs2145747689 | 1145 | L>H | No | Ensembl | |
| rs2145747687 | 1145 | L>I | No | Ensembl | |
| rs2145747689 | 1145 | L>P | No | Ensembl | |
| rs2145747687 | 1145 | L>V | No | Ensembl | |
| rs2145747704 | 1146 | S>C | No | Ensembl | |
| rs2145747704 | 1146 | S>F | No | Ensembl | |
| rs2145747700 | 1146 | S>T | No | Ensembl | |
| rs2145747730 | 1147 | E>D | No | Ensembl | |
| rs2145747726 | 1147 | E>G | No | Ensembl | |
| rs2145747718 | 1147 | E>K | No | Ensembl | |
| rs2145747718 | 1147 | E>Q | No | Ensembl | |
| rs2145747726 | 1147 | E>V | No | Ensembl | |
| rs2145747742 | 1148 | V>D | No | Ensembl | |
| rs2145747742 | 1148 | V>G | No | Ensembl | |
| rs750777340 | 1148 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs750777340 | 1148 | V>L | No |
ExAC gnomAD |
|
| rs2145747749 | 1149 | F>I | No | Ensembl | |
| rs758726314 | 1149 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs2145747753 | 1149 | F>Y | No | Ensembl | |
| rs2059083016 | 1150 | E>D | No | Ensembl | |
| rs2145747761 | 1150 | E>K | No | Ensembl | |
| rs2145747761 | 1150 | E>Q | No | Ensembl | |
| rs2145747766 | 1150 | E>V | No | Ensembl | |
| rs2145747771 | 1151 | Q>* | No | Ensembl | |
| rs2145747771 | 1151 | Q>E | No | Ensembl | |
| rs2145747771 | 1151 | Q>K | No | Ensembl | |
| rs2145747782 | 1152 | E>K | No | Ensembl | |
| rs2145747782 | 1152 | E>Q | No | Ensembl | |
| rs2145747787 | 1153 | I>F | No | Ensembl | |
| rs2145747791 | 1153 | I>N | No | Ensembl | |
| rs2145747791 | 1153 | I>S | No | Ensembl | |
| rs2145747787 | 1153 | I>V | No | Ensembl | |
| rs1480643114 | 1154 | D>E | No | Ensembl | |
| rs2145747801 | 1154 | D>H | No | Ensembl | |
| rs2145747801 | 1154 | D>N | No | Ensembl | |
| rs2145747812 | 1155 | P>A | No | Ensembl | |
| rs747493771 | 1155 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs747493771 | 1155 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs747493771 | 1155 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs2145747812 | 1155 | P>S | No | Ensembl | |
| rs2145747812 | 1155 | P>T | No | Ensembl | |
| TCGA novel | 1156 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145747835 | 1156 | V>E | No | Ensembl | |
| rs2145747832 | 1156 | V>L | No | Ensembl | |
|
rs2145747832 TCGA novel |
1156 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2145747853 | 1157 | M>I | No | Ensembl | |
| rs2145747847 | 1157 | M>K | No | Ensembl | |
| rs2145747840 | 1157 | M>L | No | Ensembl | |
|
CA10603515 rs886041739 RCV000268127 |
1158 | Q>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs886041739 | 1158 | Q>E | No | gnomAD | |
| rs886041739 | 1158 | Q>K | No | gnomAD | |
| rs2145747863 | 1158 | Q>R | No | Ensembl | |
| rs2145747870 | 1159 | S>C | No | Ensembl | |
| rs555232561 | 1159 | S>I | No |
ExAC gnomAD |
|
| rs555232561 | 1159 | S>N | No |
ExAC gnomAD |
|
| rs2145747879 | 1159 | S>R | No | Ensembl | |
| rs555232561 | 1159 | S>T | No |
ExAC gnomAD |
|
| rs1463870283 | 1160 | L>F | No |
TOPMed gnomAD |
|
| rs2145747893 | 1160 | L>H | No | Ensembl | |
| rs2145747893 | 1160 | L>P | No | Ensembl | |
| rs1463870283 | 1160 | L>V | No |
TOPMed gnomAD |
|
| rs2145747906 | 1161 | G>* | No | Ensembl | |
| rs2145747914 | 1161 | G>A | No | Ensembl | |
| rs2145747914 | 1161 | G>E | No | Ensembl | |
| rs2145747906 | 1161 | G>R | No | Ensembl | |
| rs2145747914 | 1161 | G>V | No | Ensembl | |
| rs2145747919 | 1162 | Y>* | No | Ensembl | |
| rs2145747916 | 1162 | Y>N | No | Ensembl | |
| rs2145747939 | 1163 | C>* | No | Ensembl | |
| rs2145747933 | 1163 | C>S | No | Ensembl | |
| rs2145747925 | 1163 | C>S | No | Ensembl | |
| rs2145747933 | 1163 | C>Y | No | Ensembl | |
| rs2145747943 | 1164 | C>S | No | Ensembl | |
|
COSM5487677 rs2145747943 |
1164 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2145747953 | 1165 | G>A | No | Ensembl | |
| rs2145747953 | 1165 | G>D | No | Ensembl | |
| rs2145747950 | 1165 | G>S | No | Ensembl | |
| rs2145747953 | 1165 | G>V | No | Ensembl | |
| rs1391404154 | 1166 | R>K | No | gnomAD | |
| rs1391404154 | 1166 | R>T | No | gnomAD | |
| rs2145747972 | 1167 | K>E | No | Ensembl | |
| rs748766837 | 1167 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs2145749431 | 1168 | L>F | No | Ensembl | |
| rs2145749424 | 1168 | L>M | No | Ensembl | |
| rs2145749434 | 1169 | E>* | No | Ensembl | |
| rs2145749450 | 1169 | E>D | No | Ensembl | |
| rs2145749444 | 1169 | E>G | No | Ensembl | |
| rs2145749434 | 1169 | E>K | No | Ensembl | |
| rs2145749434 | 1169 | E>Q | No | Ensembl | |
| rs2145749444 | 1169 | E>V | No | Ensembl | |
| rs2145749457 | 1170 | F>I | No | Ensembl | |
|
rs2145749467 TCGA novel |
1170 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs2145749464 | 1170 | F>S | No | Ensembl | |
| rs1359275063 | 1171 | S>P | No | gnomAD | |
| rs2059089369 | 1172 | P>A | No | Ensembl | |
| rs2145749485 | 1172 | P>L | No | Ensembl | |
| rs2145749485 | 1172 | P>Q | No | Ensembl | |
| rs2145749485 | 1172 | P>R | No | Ensembl | |
| rs2059089369 | 1172 | P>S | No | Ensembl | |
| rs2059089369 | 1172 | P>T | No | Ensembl | |
| rs753309224 | 1173 | Q>* | No |
ExAC gnomAD |
|
| rs753309224 | 1173 | Q>E | No |
ExAC gnomAD |
|
| rs2145749518 | 1173 | Q>H | No | Ensembl | |
| rs753309224 | 1173 | Q>K | No |
ExAC gnomAD |
|
| rs2145749512 | 1173 | Q>L | No | Ensembl | |
| rs2145749512 | 1173 | Q>R | No | Ensembl | |
| rs2145749522 | 1174 | T>A | No | Ensembl | |
| rs2145749526 | 1174 | T>I | No | Ensembl | |
| rs2145749526 | 1174 | T>R | No | Ensembl | |
| rs2145749522 | 1174 | T>S | No | Ensembl | |
| rs2145749543 | 1175 | L>P | No | Ensembl | |
| rs2145749543 | 1175 | L>Q | No | Ensembl | |
| rs2059089448 | 1175 | L>V | No | Ensembl | |
| rs2145749559 | 1176 | C>* | No | Ensembl | |
| rs2059089478 | 1176 | C>F | No |
TOPMed gnomAD |
|
| rs2145749549 | 1176 | C>G | No | Ensembl | |
| rs2145749549 | 1176 | C>S | No | Ensembl | |
| rs2059089478 | 1176 | C>S | No |
TOPMed gnomAD |
|
| rs2145749570 | 1177 | C>S | No | Ensembl | |
| rs2145749565 | 1177 | C>S | No | Ensembl | |
| TCGA novel | 1177 | C>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145749574 | 1177 | C>W | No | Ensembl | |
| rs2145749570 | 1177 | C>Y | No | Ensembl | |
| rs199535477 | 1178 | Y>* | No |
TOPMed gnomAD |
|
| rs1601625486 | 1178 | Y>C | No | Ensembl | |
| rs1601625486 | 1178 | Y>F | No | Ensembl | |
| rs2145749578 | 1178 | Y>N | No | Ensembl | |
| rs2145749595 | 1179 | G>A | No | Ensembl | |
| rs1425344418 | 1179 | G>C | No |
TOPMed gnomAD |
|
| rs2145749595 | 1179 | G>D | No | Ensembl | |
| rs1425344418 | 1179 | G>R | No |
TOPMed gnomAD |
|
| rs1425344418 | 1179 | G>S | No |
TOPMed gnomAD |
|
| rs2145749607 | 1180 | K>* | No | Ensembl | |
| rs2145749609 | 1180 | K>I | No | Ensembl | |
| rs2145749613 | 1180 | K>N | No | Ensembl | |
| rs2145749609 | 1180 | K>R | No | Ensembl | |
| rs2145749619 | 1181 | Q>* | No | Ensembl | |
| rs2145749619 | 1181 | Q>E | No | Ensembl | |
| rs2145749619 | 1181 | Q>K | No | Ensembl | |
| rs2145749622 | 1181 | Q>L | No | Ensembl | |
| rs2145749622 | 1181 | Q>R | No | Ensembl | |
| rs2145749637 | 1182 | L>* | No | Ensembl | |
| rs2145749644 | 1182 | L>F | No | Ensembl | |
| rs2145749628 | 1182 | L>M | No | Ensembl | |
| rs2145749637 | 1182 | L>S | No | Ensembl | |
| rs2145749628 | 1182 | L>V | No | Ensembl | |
| rs2145749637 | 1182 | L>W | No | Ensembl | |
| rs2145749664 | 1183 | C>* | No | Ensembl | |
| rs2145749650 | 1183 | C>G | No | Ensembl | |
| rs2145749650 | 1183 | C>S | No | Ensembl | |
| rs2145749656 | 1183 | C>S | No | Ensembl | |
| rs2145749664 | 1183 | C>W | No | Ensembl | |
|
rs2145749656 COSM1205373 |
1183 | C>Y | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs2145749668 | 1184 | T>P | No | Ensembl | |
| rs2145749668 | 1184 | T>S | No | Ensembl | |
| rs2145749678 | 1185 | I>K | No | Ensembl | |
| rs1489896703 | 1185 | I>L | No | TOPMed | |
| rs1489896703 | 1185 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs2145749686 | 1186 | P>A | No | Ensembl | |
| rs2145749689 | 1186 | P>H | No | Ensembl | |
| rs2145749689 | 1186 | P>L | No | Ensembl | |
| rs2145749689 | 1186 | P>R | No | Ensembl | |
| rs2145749686 | 1186 | P>S | No | Ensembl | |
| rs2145749686 | 1186 | P>T | No | Ensembl | |
| rs745492786 | 1187 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs745492786 | 1187 | R>G | No |
ExAC TOPMed gnomAD |
|
|
rs1289132149 COSM1034544 |
1187 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1289132149 | 1187 | R>P | No |
TOPMed gnomAD |
|
| rs745492786 | 1187 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs2145749714 | 1188 | D>E | No | Ensembl | |
| rs2145749705 | 1188 | D>H | No | Ensembl | |
| rs2145749705 | 1188 | D>N | No | Ensembl | |
| rs2145749712 | 1188 | D>V | No | Ensembl | |
| rs2145749705 | 1188 | D>Y | No | Ensembl | |
| rs2145749723 | 1189 | A>D | No | Ensembl | |
| rs2145749723 | 1189 | A>G | No | Ensembl | |
| rs2145749718 | 1189 | A>T | No | Ensembl | |
|
COSM4385252 rs2145749723 |
1189 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs975609094 | 1190 | T>A | No | TOPMed | |
| rs975609094 | 1190 | T>P | No | TOPMed | |
| rs975609094 | 1190 | T>S | No | TOPMed | |
| rs2059089676 | 1191 | Y>C | No | Ensembl | |
| rs2145749740 | 1191 | Y>N | No | Ensembl | |
| rs1159368614 | 1192 | Y>* | No |
TOPMed gnomAD |
|
| rs2145749751 | 1192 | Y>F | No | Ensembl | |
| rs2145749751 | 1192 | Y>S | No | Ensembl | |
| rs2145749761 | 1193 | S>C | No | Ensembl | |
| rs2145749766 | 1193 | S>N | No | Ensembl | |
| rs2145749770 | 1193 | S>R | No | Ensembl | |
| rs2145749766 | 1193 | S>T | No | Ensembl | |
| rs2145749777 | 1194 | Y>* | No | Ensembl | |
| rs2145749774 | 1194 | Y>N | No | Ensembl | |
| rs2145749780 | 1195 | Q>E | No | Ensembl | |
| rs2145749788 | 1195 | Q>H | No | Ensembl | |
| rs2145749785 | 1195 | Q>L | No | Ensembl | |
| rs2145749792 | 1196 | N>I | No | Ensembl | |
| rs2145749796 | 1196 | N>K | No | Ensembl | |
| rs2145749792 | 1196 | N>S | No | Ensembl | |
| rs2145749792 | 1196 | N>T | No | Ensembl | |
| rs1340981566 | 1197 | R>G | No | TOPMed | |
| rs2145749809 | 1197 | R>K | No | Ensembl | |
| rs1158403153 | 1197 | R>S | No | gnomAD | |
| rs2145752320 | 1198 | Y>C | No | Ensembl | |
| rs1305375514 | 1198 | Y>D | No | TOPMed | |
| rs2145752320 | 1198 | Y>F | No | Ensembl | |
| rs1305375514 | 1198 | Y>N | No | TOPMed | |
| rs2145752324 | 1199 | H>D | No | Ensembl | |
| rs2145752327 | 1199 | H>L | No | Ensembl | |
| rs2145752324 | 1199 | H>N | No | Ensembl | |
| rs2145752331 | 1199 | H>Q | No | Ensembl | |
|
COSM3554888 rs2145752324 |
1199 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2145752339 | 1200 | F>L | No | Ensembl | |
| rs2059102985 | 1200 | F>V | No | TOPMed | |
| rs2145752351 | 1201 | C>* | No | Ensembl | |
| rs2145752347 | 1201 | C>F | No | Ensembl | |
| rs2145752342 | 1201 | C>R | No | Ensembl | |
| rs2145752347 | 1201 | C>S | No | Ensembl | |
|
COSM3153139 rs2145752347 |
1201 | C>Y | upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. central_nervous_system [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2145752360 | 1202 | E>D | No | Ensembl | |
| rs2145752353 | 1202 | E>G | No | Ensembl | |
| rs2145752352 | 1202 | E>Q | No | Ensembl | |
| rs2145752353 | 1202 | E>V | No | Ensembl | |
| rs2145752365 | 1203 | K>* | No | Ensembl | |
| rs2145752365 | 1203 | K>E | No | Ensembl | |
| rs2145752370 | 1203 | K>M | No | Ensembl | |
| rs750162474 | 1203 | K>N | No |
ExAC gnomAD |
|
| rs758126148 | 1204 | C>* | No |
ExAC TOPMed gnomAD |
|
| rs2145752376 | 1204 | C>G | No | Ensembl | |
| rs2145752376 | 1204 | C>S | No | Ensembl | |
| rs2145752386 | 1205 | F>I | No | Ensembl | |
| rs2145752386 | 1205 | F>L | No | Ensembl | |
| rs2145752390 | 1205 | F>Y | No | Ensembl | |
| rs2145752400 | 1206 | N>D | No | Ensembl | |
| rs779792116 | 1206 | N>I | No |
ExAC TOPMed gnomAD |
|
| rs2145752410 | 1206 | N>K | No | Ensembl | |
| rs2145752400 | 1206 | N>Y | No | Ensembl | |
| rs2145752413 | 1207 | E>* | No | Ensembl | |
| rs2145752416 | 1207 | E>D | No | Ensembl | |
| rs2145752422 | 1208 | I>N | No | Ensembl | |
| rs2145752422 | 1208 | I>S | No | Ensembl | |
| rs1312106734 | 1209 | Q>H | No | gnomAD | |
| rs2145752441 | 1210 | G>A | No | Ensembl | |
| rs2145752441 | 1210 | G>E | No | Ensembl | |
| rs2145752436 | 1210 | G>R | No | Ensembl | |
| rs2145752441 | 1210 | G>V | No | Ensembl | |
| rs2145752436 | 1210 | G>W | No | Ensembl | |
| rs2145752453 | 1211 | E>* | No | Ensembl | |
| rs748106711 | 1211 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1222731247 | 1211 | E>G | No | gnomAD | |
| rs2145752453 | 1211 | E>K | No | Ensembl | |
| rs2145752453 | 1211 | E>Q | No | Ensembl | |
| rs1222731247 | 1211 | E>V | No | gnomAD | |
| rs769831996 | 1212 | S>C | No |
ExAC gnomAD |
|
| rs769831996 | 1212 | S>G | No |
ExAC gnomAD |
|
| rs911135531 | 1212 | S>R | No |
TOPMed gnomAD |
|
| rs2145752464 | 1212 | S>T | No | Ensembl | |
| rs2145752476 | 1213 | V>A | No | Ensembl | |
| rs2145752476 | 1213 | V>D | No | Ensembl | |
| rs2145752476 | 1213 | V>G | No | Ensembl | |
| rs773284676 | 1213 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs773284676 | 1213 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs2145752484 | 1214 | S>A | No | Ensembl | |
|
rs2059103239 COSM3554889 |
1214 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2145752484 | 1214 | S>T | No | Ensembl | |
| COSM280814 | 1214 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2145752494 | 1215 | L>M | No | Ensembl | |
| rs762963571 | 1216 | G>A | No |
ExAC gnomAD |
|
| rs762963571 | 1216 | G>E | No |
ExAC gnomAD |
|
| rs2145752498 | 1216 | G>R | No | Ensembl | |
| rs762963571 | 1216 | G>V | No |
ExAC gnomAD |
|
| rs2145752498 | 1216 | G>W | No | Ensembl | |
| rs2145752525 | 1217 | D>E | No | Ensembl | |
| rs2145752519 | 1217 | D>G | No | Ensembl | |
| rs1085307911 | 1217 | D>H | No | Ensembl | |
| TCGA novel | 1217 | D>M | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1085307911 CA411696538 RCV000489263 |
1217 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2145752519 | 1217 | D>V | No | Ensembl | |
| rs1085307911 | 1217 | D>Y | No | Ensembl | |
| rs1601626980 | 1218 | D>A | No | Ensembl | |
| rs1200223003 | 1218 | D>E | No | gnomAD | |
|
COSM187712 rs1601626980 |
1218 | D>G | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs2145752530 | 1218 | D>H | No | Ensembl | |
| rs2145752530 | 1218 | D>N | No | Ensembl | |
| rs1601626980 | 1218 | D>V | No | Ensembl | |
| rs1231119644 | 1219 | P>A | No | gnomAD | |
| rs2145752548 | 1219 | P>H | No | Ensembl | |
| rs2145752548 | 1219 | P>L | No | Ensembl | |
| rs2145752548 | 1219 | P>R | No | Ensembl | |
| rs1231119644 | 1219 | P>S | No | gnomAD | |
| rs1231119644 | 1219 | P>T | No | gnomAD | |
| rs1176732027 | 1220 | S>C | No |
TOPMed gnomAD |
|
| rs1176732027 | 1220 | S>F | No |
TOPMed gnomAD |
|
| rs771166857 | 1220 | S>P | No |
ExAC gnomAD |
|
| rs1176732027 | 1220 | S>Y | No |
TOPMed gnomAD |
|
| rs2145752569 | 1221 | Q>* | No | Ensembl | |
| rs1425934652 | 1221 | Q>H | No |
TOPMed gnomAD |
|
| rs2145752572 | 1221 | Q>L | No | Ensembl | |
| rs2145752572 | 1221 | Q>R | No | Ensembl | |
| rs2145752583 | 1222 | P>A | No | Ensembl | |
| rs7285319 | 1222 | P>L | No | Ensembl | |
| rs7285319 | 1222 | P>R | No | Ensembl | |
| rs2145752583 | 1222 | P>S | No | Ensembl | |
| rs2145752583 | 1222 | P>T | No | Ensembl | |
| COSM4774852 | 1223 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3800225 | 1223 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2059103490 | 1223 | Q>H | No | TOPMed | |
| rs2145752601 | 1224 | T>A | No | Ensembl | |
| rs2145752607 | 1224 | T>I | No | Ensembl | |
| rs2145752607 | 1224 | T>N | No | Ensembl | |
| rs2145752607 | 1224 | T>S | No | Ensembl | |
| rs2145752601 | 1224 | T>S | No | Ensembl | |
| COSM1034546 | 1228 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001291579 rs866430850 |
1229 | E>* | No |
ClinVar Ensembl dbSNP |
|
| rs138247696 | 1229 | E>D | No |
ESP TOPMed |
|
| rs866430850 | 1229 | E>K | No | Ensembl | |
| rs746090478 | 1230 | Q>E | No |
ExAC gnomAD |
|
| rs746090478 | 1230 | Q>K | No |
ExAC gnomAD |
|
| rs1166503571 | 1230 | Q>L | No |
TOPMed gnomAD |
|
| rs1166503571 | 1230 | Q>R | No |
TOPMed gnomAD |
|
| rs936858675 | 1231 | F>I | No |
TOPMed gnomAD |
|
| rs2059114638 | 1233 | K>R | No | Ensembl | |
| TCGA novel | 1234 | R>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1340775159 | 1234 | R>S | No | gnomAD | |
| rs775923978 | 1235 | K>R | No |
ExAC TOPMed gnomAD |
|
| COSM3153146 | 1236 | N>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM5047132 | 1236 | N>M | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4856801 | 1237 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs760887361 | 1238 | T>I | No |
ExAC gnomAD |
|
| rs764718091 | 1243 | L>Q | No |
ExAC TOPMed gnomAD |
|
| rs764718091 | 1243 | L>R | No |
ExAC TOPMed gnomAD |
|
| rs778760907 | 1244 | F>L | No |
ExAC gnomAD |
|
|
rs2145756387 RCV001556761 |
1247 | C>Y | No |
ClinVar Ensembl dbSNP |
|
| rs200852894 | 1249 | E>D | No |
1000Genomes ExAC gnomAD |
|
| rs2059122292 | 1249 | E>G | No | gnomAD | |
| rs1032317413 | 1251 | G>E | No | gnomAD | |
| rs373249130 | 1251 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145756416 | 1254 | M>I | No | Ensembl | |
| rs1378942192 | 1254 | M>V | No | gnomAD | |
| COSM4913673 | 1255 | H>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2145756424 | 1256 | Q>* | No | Ensembl | |
| TCGA novel | 1256 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs781696301 | 1256 | Q>P | No |
ExAC TOPMed gnomAD |
|
| rs781696301 | 1256 | Q>R | No |
ExAC TOPMed gnomAD |
|
|
rs2145756430 RCV002222939 |
1258 | C>R | No |
ClinVar Ensembl dbSNP |
|
| rs2145756435 | 1258 | C>Y | No | Ensembl | |
| rs2059122419 | 1259 | V>A | No | Ensembl | |
| rs770447172 | 1261 | H>N | No |
ExAC gnomAD |
|
| rs770447172 | 1261 | H>Y | No |
ExAC gnomAD |
|
| rs2059122460 | 1262 | H>Q | No | Ensembl | |
| rs1244474837 | 1262 | H>Y | No | TOPMed | |
| rs773553894 | 1263 | E>Q | No |
ExAC gnomAD |
|
| rs759129154 | 1264 | I>L | No |
ExAC gnomAD |
|
| rs1460264080 | 1267 | P>L | No | gnomAD | |
| rs1203373368 | 1268 | A>P | No |
TOPMed gnomAD |
|
| rs1203373368 | 1268 | A>S | No |
TOPMed gnomAD |
|
| rs1203373368 | 1268 | A>T | No |
TOPMed gnomAD |
|
| rs2145756484 | 1269 | G>E | No | Ensembl | |
| rs2059122574 | 1269 | G>R | No | Ensembl | |
| rs190692702 | 1271 | V>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs190692702 | 1271 | V>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs190692702 | 1271 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs2145759316 RCV001816326 |
1273 | D>G | No |
ClinVar Ensembl dbSNP |
|
| rs2145759312 | 1273 | D>N | No | Ensembl | |
| rs2145759323 | 1274 | G>D | No | Ensembl | |
| rs1395370853 | 1275 | C>S | No | TOPMed | |
| rs79276543 | 1275 | C>W | No |
ExAC gnomAD |
|
| rs2145759326 | 1275 | C>Y | No | Ensembl | |
| rs78336815 | 1276 | L>F | No | gnomAD | |
| rs1375932118 | 1276 | L>S | No | TOPMed | |
| rs2059135980 | 1279 | S>N | No |
TOPMed gnomAD |
|
| rs1314655636 | 1279 | S>R | No |
TOPMed gnomAD |
|
| rs2059136013 | 1280 | A>T | No | Ensembl | |
| rs2059136029 | 1280 | A>V | No | TOPMed | |
|
RCV000627215 CA411698651 rs1555910814 COSM1034550 |
1281 | R>* | Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
COSM1034552 RCV001548168 rs764929476 |
1281 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
| rs182500857 | 1282 | T>A | No | 1000Genomes | |
| rs1167267185 | 1283 | R>G | No | gnomAD | |
| COSM4831595 | 1283 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1034554 | 1285 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2058037783 | 1285 | E>G | No | Ensembl | |
| rs1417280123 | 1285 | E>Q | No |
TOPMed gnomAD |
|
| rs1555910821 | 1286 | N>I | No | TOPMed | |
| rs2145759380 | 1287 | K>N | No | Ensembl | |
| rs1391290844 | 1287 | K>R | No | gnomAD | |
| rs1199213594 | 1288 | F>L | No |
TOPMed gnomAD |
|
|
RCV000658451 rs1555910822 |
1289 | S>F | No |
ClinVar Ensembl dbSNP |
|
| rs2059136198 | 1290 | A>T | No | gnomAD | |
| rs773270724 | 1290 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1555910825 | 1291 | K>N | No | Ensembl | |
| TCGA novel | 1292 | R>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145762722 | 1294 | P>A | No | Ensembl | |
| rs2145762725 | 1294 | P>L | No | Ensembl | |
| rs2059152538 | 1296 | T>A | No | Ensembl | |
| rs1262147367 | 1299 | G>A | No | gnomAD | |
| rs2145762743 | 1299 | G>C | No | Ensembl | |
| rs1262147367 | 1299 | G>D | No | gnomAD | |
| rs2145762743 | 1299 | G>R | No | Ensembl | |
| rs766262045 | 1301 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs1204377100 | 1301 | F>S | No | gnomAD | |
| rs2059152782 | 1303 | E>D | No | Ensembl | |
| rs2145762764 | 1303 | E>G | No | Ensembl | |
|
RCV000658942 rs1555911073 |
1305 | R>C | No |
ClinVar Ensembl dbSNP |
|
| rs767689250 | 1305 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs767689250 | 1305 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs1444094353 | 1308 | D>E | No |
TOPMed gnomAD |
|
| rs756292109 | 1310 | L>R | No |
ExAC gnomAD |
|
| rs2145762783 | 1311 | R>W | No | Ensembl | |
|
COSM78937 RCV000657651 rs1555911075 |
1312 | R>* | Variant assessed as Somatic; HIGH impact. ovary large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs2059152930 COSM4821763 |
1312 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes TOPMed |
| rs2145762792 | 1313 | Q>* | No | Ensembl | |
| rs2145762792 | 1313 | Q>E | No | Ensembl | |
| rs2145762799 | 1315 | H>Y | No | Ensembl | |
| rs2145762808 | 1316 | P>T | No | Ensembl | |
| rs1407281166 | 1317 | E>D | No | gnomAD | |
| rs1337488856 | 1317 | E>Q | No | gnomAD | |
| rs2145762816 | 1318 | S>* | No | Ensembl | |
| rs2145762823 | 1319 | G>A | No | Ensembl | |
| rs2145762821 | 1319 | G>R | No | Ensembl | |
| rs2145762826 | 1321 | V>D | No | Ensembl | |
| rs2059153034 | 1322 | T>A | No | TOPMed | |
| TCGA novel | 1322 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145762840 | 1323 | V>I | No | Ensembl | |
| COSM1034556 | 1326 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1326 | V>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1327 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145762851 | 1327 | H>Y | No | Ensembl | |
| rs1223884893 | 1328 | A>G | No |
TOPMed gnomAD |
|
| rs1223884893 | 1328 | A>V | No |
TOPMed gnomAD |
|
| rs2145762867 | 1329 | S>C | No | Ensembl | |
| rs2145762880 | 1330 | D>E | No | Ensembl | |
| rs2145762871 | 1330 | D>H | No | Ensembl | |
| rs2145762876 | 1330 | D>V | No | Ensembl | |
| rs757601786 | 1332 | T>I | No |
ExAC gnomAD |
|
| TCGA novel | 1332 | T>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs754552219 | 1333 | V>M | No |
ExAC gnomAD |
|
| TCGA novel | 1334 | E>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145762900 | 1334 | E>* | No | Ensembl | |
| rs2145762905 | 1334 | E>D | No | Ensembl | |
| rs2145762909 | 1335 | V>I | No | Ensembl | |
| rs2145762914 | 1337 | P>A | No | Ensembl | |
| rs2145762918 | 1337 | P>Q | No | Ensembl | |
| TCGA novel | 1337 | P>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145762923 | 1338 | G>A | No | Ensembl | |
| rs2145762933 | 1339 | M>I | No | Ensembl | |
| TCGA novel | 1339 | M>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1064795607 RCV000479346 CA16621126 |
1339 | M>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2145762936 | 1341 | A>T | No | Ensembl | |
| rs1227352702 | 1341 | A>V | No |
TOPMed gnomAD |
|
| rs2145762942 | 1342 | R>M | No | Ensembl | |
| rs1174786622 | 1343 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2145763293 | 1343 | F>I | No | Ensembl | |
| rs1174786622 | 1343 | F>S | No | gnomAD | |
| rs2145763293 | 1343 | F>V | No | Ensembl | |
| rs1024911578 | 1344 | V>A | No | Ensembl | |
| rs1024911578 | 1344 | V>E | No | Ensembl | |
| TCGA novel | 1344 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145763327 | 1345 | D>A | No | Ensembl | |
| rs1411084947 | 1345 | D>E | No | gnomAD | |
| rs2145763327 | 1345 | D>G | No | Ensembl | |
| rs2145763318 | 1345 | D>H | No | Ensembl | |
| rs2145763318 | 1345 | D>N | No | Ensembl | |
| rs2145763327 | 1345 | D>V | No | Ensembl | |
| rs2145763318 | 1345 | D>Y | No | Ensembl | |
| rs2145763336 | 1346 | S>C | No | Ensembl | |
| rs1196479554 | 1346 | S>I | No | Ensembl | |
| rs1196479554 | 1346 | S>N | No | Ensembl | |
| rs1196479554 | 1346 | S>T | No | Ensembl | |
| rs2145763347 | 1347 | G>A | No | Ensembl | |
| rs2145763347 | 1347 | G>E | No | Ensembl | |
| rs2145763347 | 1347 | G>V | No | Ensembl | |
| rs2059154086 | 1348 | E>D | No | TOPMed | |
| rs2145763360 | 1348 | E>G | No | Ensembl | |
| rs2145763355 | 1348 | E>K | No | Ensembl | |
| rs2145763355 | 1348 | E>Q | No | Ensembl | |
| rs2145763360 | 1348 | E>V | No | Ensembl | |
| rs2145763375 | 1349 | M>I | No | Ensembl | |
| rs2145763373 | 1349 | M>K | No | Ensembl | |
| rs2145763369 | 1349 | M>L | No | Ensembl | |
| rs2145763385 | 1350 | A>E | No | Ensembl | |
| rs2145763385 | 1350 | A>G | No | Ensembl | |
| rs2145763379 | 1350 | A>P | No | Ensembl | |
| rs2145763379 | 1350 | A>S | No | Ensembl | |
|
rs2145763379 COSM1034558 |
1350 | A>T | endometrium [Cosmic] | No |
cosmic curated Ensembl |
| rs2145763385 | 1350 | A>V | No | Ensembl | |
|
COSM1034560 rs2059154120 |
1351 | E>* | Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
| rs2145763403 | 1351 | E>D | No | Ensembl | |
| rs2059154120 | 1351 | E>K | No | TOPMed | |
| rs2059154120 | 1351 | E>Q | No | TOPMed | |
| rs2145763398 | 1351 | E>V | No | Ensembl | |
| rs748959061 | 1352 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs748959061 | 1352 | S>F | No |
ExAC TOPMed gnomAD |
|
| rs1391544940 | 1352 | S>T | No | TOPMed | |
| rs748959061 | 1352 | S>Y | No |
ExAC TOPMed gnomAD |
|
| rs1353213083 | 1353 | F>I | No | gnomAD | |
| rs1353213083 | 1353 | F>V | No | gnomAD | |
| rs2145763422 | 1354 | P>L | No | Ensembl | |
| rs2145763422 | 1354 | P>R | No | Ensembl | |
| COSM3912893 | 1354 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2145763439 | 1355 | Y>C | No | Ensembl | |
| rs2145763439 | 1355 | Y>F | No | Ensembl | |
| rs2145763434 | 1355 | Y>N | No | Ensembl | |
| rs1440862488 | 1356 | R>G | No | gnomAD | |
| rs1303184977 | 1356 | R>L | No | gnomAD | |
| rs1303184977 | 1356 | R>P | No | gnomAD | |
|
COSM4104435 rs1303184977 |
1356 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1347049247 | 1357 | T>I | No | gnomAD | |
| rs1347049247 | 1357 | T>N | No | gnomAD | |
| rs1347049247 | 1357 | T>S | No | gnomAD | |
| rs2145763471 | 1358 | K>* | No | Ensembl | |
| rs2059154283 | 1358 | K>I | No | Ensembl | |
| rs2145763477 | 1358 | K>N | No | Ensembl | |
| rs2059154283 | 1358 | K>R | No | Ensembl | |
| rs2059154283 | 1358 | K>T | No | Ensembl | |
| rs2059154306 | 1359 | A>D | No | TOPMed | |
| rs2059154306 | 1359 | A>G | No | TOPMed | |
| rs2145763481 | 1359 | A>P | No | Ensembl | |
| rs2145763481 | 1359 | A>S | No | Ensembl | |
| rs2145763481 | 1359 | A>T | No | Ensembl | |
| rs2059154306 | 1359 | A>V | No | TOPMed | |
| rs2145763490 | 1360 | L>F | No | Ensembl | |
| rs2145763490 | 1360 | L>I | No | Ensembl | |
| rs2145763490 | 1360 | L>V | No | Ensembl | |
| rs2145763502 | 1361 | F>I | No | Ensembl | |
| rs2145763502 | 1361 | F>L | No | Ensembl | |
| rs2145763514 | 1361 | F>L | No | Ensembl | |
| rs2145763510 | 1361 | F>Y | No | Ensembl | |
| rs1464888363 | 1362 | A>D | No |
TOPMed gnomAD |
|
| rs1464888363 | 1362 | A>G | No |
TOPMed gnomAD |
|
| rs2145763518 | 1362 | A>P | No | Ensembl | |
| rs2145763518 | 1362 | A>S | No | Ensembl | |
| rs2145763518 | 1362 | A>T | No | Ensembl | |
| rs1464888363 | 1362 | A>V | No |
TOPMed gnomAD |
|
| rs2145763540 | 1363 | F>I | No | Ensembl | |
| rs2145763556 | 1363 | F>L | No | Ensembl | |
| rs2145763547 | 1363 | F>S | No | Ensembl | |
| rs2145763547 | 1363 | F>Y | No | Ensembl | |
| rs2145763563 | 1364 | E>* | No | Ensembl | |
| rs2145763581 | 1364 | E>D | No | Ensembl | |
| rs2145763572 | 1364 | E>G | No | Ensembl | |
| rs2145763563 | 1364 | E>K | No | Ensembl | |
| rs2145763563 | 1364 | E>Q | No | Ensembl | |
| rs2145763572 | 1364 | E>V | No | Ensembl | |
| rs2145763588 | 1365 | E>* | No | Ensembl | |
| rs1282460795 | 1365 | E>D | No | gnomAD | |
| rs2145763588 | 1365 | E>K | No | Ensembl | |
| rs2145763588 | 1365 | E>Q | No | Ensembl | |
| rs2145763592 | 1365 | E>V | No | Ensembl | |
| rs1362394296 | 1366 | I>F | No | gnomAD | |
| rs1362394296 | 1366 | I>L | No | gnomAD | |
| rs778852528 | 1366 | I>N | No |
ExAC gnomAD |
|
| rs778852528 | 1366 | I>S | No |
ExAC gnomAD |
|
| rs778852528 | 1366 | I>T | No |
ExAC gnomAD |
|
| rs1362394296 | 1366 | I>V | No | gnomAD | |
| rs2145763610 | 1367 | D>G | No | Ensembl | |
| rs2145763605 | 1367 | D>H | No | Ensembl | |
| rs2145763605 | 1367 | D>N | No | Ensembl | |
| rs2145763610 | 1367 | D>V | No | Ensembl | |
|
rs2145763605 COSM3554890 |
1367 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
|
rs1601633128 RCV001009166 |
1368 | G>missing | No |
ClinVar dbSNP |
|
| rs2145763634 | 1368 | G>A | No | Ensembl | |
| rs2145763621 | 1368 | G>C | No | Ensembl | |
| rs2145763634 | 1368 | G>D | No | Ensembl | |
| rs2145763621 | 1368 | G>R | No | Ensembl | |
| rs2145763621 | 1368 | G>S | No | Ensembl | |
| rs2145763634 | 1368 | G>V | No | Ensembl | |
| rs2145763653 | 1369 | V>A | No | Ensembl | |
| rs2145763653 | 1369 | V>D | No | Ensembl | |
| rs2145763653 | 1369 | V>G | No | Ensembl | |
| rs2145763672 | 1370 | D>A | No | Ensembl | |
| rs2059154475 | 1370 | D>E | No | TOPMed | |
| rs2145763672 | 1370 | D>G | No | Ensembl | |
| rs2059154460 | 1370 | D>H | No | Ensembl | |
| rs2059154460 | 1370 | D>N | No | Ensembl | |
| rs2145763672 | 1370 | D>V | No | Ensembl | |
| rs1481710031 | 1371 | L>M | No |
TOPMed gnomAD |
|
| rs2145763689 | 1371 | L>P | No | Ensembl | |
| rs2145763689 | 1371 | L>Q | No | Ensembl | |
| rs2145763689 | 1371 | L>R | No | Ensembl | |
| rs1481710031 | 1371 | L>V | No |
TOPMed gnomAD |
|
| rs2145763721 | 1372 | C>* | No | Ensembl | |
| rs760707534 | 1372 | C>F | No |
ExAC gnomAD |
|
| rs2145763700 | 1372 | C>G | No | Ensembl | |
| rs760707534 | 1372 | C>S | No |
ExAC gnomAD |
|
| rs2145763700 | 1372 | C>S | No | Ensembl | |
| rs2145763721 | 1372 | C>W | No | Ensembl | |
|
rs760707534 COSM4387468 |
1372 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs768757244 | 1373 | F>C | No |
ExAC TOPMed gnomAD |
|
| rs2145763725 | 1373 | F>I | No | Ensembl | |
| rs2145763735 | 1373 | F>L | No | Ensembl | |
| rs768757244 | 1373 | F>Y | No |
ExAC TOPMed gnomAD |
|
| rs2145763744 | 1374 | F>I | No | Ensembl | |
| rs2145763744 | 1374 | F>L | No | Ensembl | |
| rs2145763749 | 1374 | F>L | No | Ensembl | |
| rs2145763762 | 1375 | G>A | No | Ensembl | |
| rs2145763754 | 1375 | G>C | No | Ensembl | |
| rs2145763762 | 1375 | G>D | No | Ensembl | |
|
rs2145763754 COSM317284 |
1375 | G>R | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs2145763754 | 1375 | G>S | No | Ensembl | |
| rs2145763762 | 1375 | G>V | No | Ensembl | |
| rs2145763782 | 1376 | M>I | No | Ensembl | |
| rs2145763776 | 1376 | M>K | No | Ensembl | |
| rs2145763774 | 1376 | M>L | No | Ensembl | |
| rs2145763776 | 1376 | M>R | No | Ensembl | |
| rs2145763776 | 1376 | M>T | No | Ensembl | |
| rs2145763787 | 1377 | H>D | No | Ensembl | |
| rs2059154553 | 1377 | H>L | No | TOPMed | |
| rs2145763787 | 1377 | H>N | No | Ensembl | |
| rs776773800 | 1377 | H>Q | No |
ExAC TOPMed gnomAD |
|
|
COSM187715 rs2059154553 |
1377 | H>R | large_intestine [Cosmic] | No |
cosmic curated TOPMed |
| rs2145763787 | 1377 | H>Y | No | Ensembl | |
| rs2145763809 | 1378 | V>A | No | Ensembl | |
| rs2145763809 | 1378 | V>D | No | Ensembl | |
| rs2145763809 | 1378 | V>G | No | Ensembl | |
| rs1481450420 | 1378 | V>I | No | TOPMed | |
| rs1481450420 | 1378 | V>L | No | TOPMed | |
| rs765387011 | 1379 | Q>* | No |
ExAC gnomAD |
|
| rs765387011 | 1379 | Q>E | No |
ExAC gnomAD |
|
| rs750808966 | 1379 | Q>H | No |
ExAC gnomAD |
|
| rs765387011 | 1379 | Q>K | No |
ExAC gnomAD |
|
| rs2145763818 | 1379 | Q>L | No | Ensembl | |
| rs1418025767 | 1380 | E>D | No | gnomAD | |
| rs2145763823 | 1380 | E>K | No | Ensembl | |
| rs2145763823 | 1380 | E>Q | No | Ensembl | |
| rs2145763825 | 1380 | E>V | No | Ensembl | |
| rs2145763838 | 1381 | Y>C | No | Ensembl | |
| rs2145763838 | 1381 | Y>F | No | Ensembl | |
| rs2145763834 | 1381 | Y>H | No | Ensembl | |
| rs2145763834 | 1381 | Y>N | No | Ensembl | |
| rs2145763838 | 1381 | Y>S | No | Ensembl | |
| rs2145763857 | 1382 | G>A | No | Ensembl | |
| rs2145763857 | 1382 | G>D | No | Ensembl | |
| rs2145763849 | 1382 | G>R | No | Ensembl | |
| rs2145763849 | 1382 | G>S | No | Ensembl | |
| rs2145763857 | 1382 | G>V | No | Ensembl | |
| rs1429636888 | 1383 | S>C | No | gnomAD | |
| rs1429636888 | 1383 | S>F | No | gnomAD | |
| rs1429636888 | 1383 | S>Y | No | gnomAD | |
| rs2145763883 | 1384 | D>A | No | Ensembl | |
| rs1366876915 | 1384 | D>E | No |
TOPMed gnomAD |
|
| rs2145763877 | 1384 | D>H | No | Ensembl | |
| rs2145763877 | 1384 | D>N | No | Ensembl | |
| rs2145763877 | 1384 | D>Y | No | Ensembl | |
| rs1181179827 | 1385 | C>* | No |
TOPMed gnomAD |
|
|
COSM97816 rs2145763898 |
1385 | C>F | lung upper_aerodigestive_tract [Cosmic] | No |
cosmic curated Ensembl |
| rs2145763891 | 1385 | C>S | No | Ensembl | |
| rs2145763898 | 1385 | C>S | No | Ensembl | |
| rs1181179827 | 1385 | C>W | No |
TOPMed gnomAD |
|
|
rs2145763898 COSM1308206 |
1385 | C>Y | upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. urinary_tract [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs962701388 | 1386 | P>A | No | Ensembl | |
| rs1419832020 | 1386 | P>H | No | gnomAD | |
| rs1419832020 | 1386 | P>L | No | gnomAD | |
| rs1419832020 | 1386 | P>R | No | gnomAD | |
| rs962701388 | 1386 | P>S | No | Ensembl | |
| rs962701388 | 1386 | P>T | No | Ensembl | |
| rs2145763922 | 1387 | P>A | No | Ensembl | |
| rs2145763929 | 1387 | P>L | No | Ensembl | |
| rs2145763929 | 1387 | P>Q | No | Ensembl | |
| rs2145763929 | 1387 | P>R | No | Ensembl | |
| rs2145763922 | 1387 | P>S | No | Ensembl | |
| rs2145763922 | 1387 | P>T | No | Ensembl | |
| rs2145763937 | 1388 | P>A | No | Ensembl | |
| rs2145763943 | 1388 | P>H | No | Ensembl | |
| rs2145763937 | 1388 | P>S | No | Ensembl | |
| rs2145763937 | 1388 | P>T | No | Ensembl | |
| rs2145763952 | 1389 | N>H | No | Ensembl | |
| rs2145763961 | 1389 | N>K | No | Ensembl | |
| rs2059154724 | 1389 | N>S | No |
TOPMed gnomAD |
|
| rs2145763952 | 1389 | N>Y | No | Ensembl | |
| rs763263565 | 1390 | Q>E | No |
ExAC gnomAD |
|
| rs2145763967 | 1390 | Q>H | No | Ensembl | |
| rs763263565 | 1390 | Q>K | No |
ExAC gnomAD |
|
| rs2145763976 | 1391 | R>G | No | Ensembl | |
| rs2145763979 | 1391 | R>K | No | Ensembl | |
| rs2145763979 | 1391 | R>M | No | Ensembl | |
| rs2145763979 | 1391 | R>T | No | Ensembl | |
| rs2145763976 | 1391 | R>W | No | Ensembl | |
| rs2145764931 | 1392 | R>* | No | Ensembl | |
| rs2145764933 | 1392 | R>I | No | Ensembl | |
| rs2145764933 | 1392 | R>K | No | Ensembl | |
| rs756783773 | 1392 | R>S | No |
ExAC gnomAD |
|
| rs2145764933 | 1392 | R>T | No | Ensembl | |
| rs1349382502 | 1393 | V>A | No | gnomAD | |
| rs2059158153 | 1393 | V>L | No | Ensembl | |
| TCGA novel | 1393 | V>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1349382502 | 1393 | V>E | No | gnomAD | |
| rs2059158153 | 1393 | V>I | No | Ensembl | |
| rs2145764970 | 1394 | Y>* | No | Ensembl | |
| rs2145764966 | 1394 | Y>F | No | Ensembl | |
| rs2145764963 | 1394 | Y>N | No | Ensembl | |
| rs2145764966 | 1394 | Y>S | No | Ensembl | |
| rs2145764972 | 1395 | I>L | No | Ensembl | |
|
RCV001768928 rs937597399 |
1395 | I>M | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs2145764978 | 1396 | S>C | No | Ensembl | |
| rs2145764978 | 1396 | S>F | No | Ensembl | |
| rs2145764978 | 1396 | S>Y | No | Ensembl | |
| TCGA novel | 1397 | Y>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000487041 CA16621127 rs1064794624 |
1397 | Y>missing | No |
ClinGen ClinVar dbSNP |
|
| rs377652798 | 1397 | Y>* | No |
ESP ExAC TOPMed gnomAD |
|
| COSM1034562 | 1397 | Y>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2145764989 | 1397 | Y>F | No | Ensembl | |
|
RCV000599065 rs1555911201 CA658799554 |
1398 | L>missing | No |
ClinGen ClinVar dbSNP |
|
| rs2145765004 | 1398 | L>F | No | Ensembl | |
| rs2145765004 | 1398 | L>I | No | Ensembl | |
| COSM727029 | 1398 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2145765007 | 1398 | L>R | No | Ensembl | |
| rs2145765004 | 1398 | L>V | No | Ensembl | |
| rs2145765022 | 1399 | D>E | No | Ensembl | |
| rs2145765017 | 1399 | D>G | No | Ensembl | |
| rs1057519889 | 1399 | D>H | Medulloblastoma (mdb) [Ensembl] | No | Ensembl |
| TCGA novel | 1399 | D>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145765017 | 1399 | D>V | No | Ensembl | |
| rs2145765024 | 1400 | S>C | No | Ensembl | |
|
COSM5049516 rs2145765028 |
1400 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs1218064209 | 1400 | S>R | No |
TOPMed gnomAD |
|
| rs2145765028 | 1400 | S>T | No | Ensembl | |
| rs2145765036 | 1401 | V>A | No | Ensembl | |
| rs2145765036 | 1401 | V>D | No | Ensembl | |
| rs2145765033 | 1401 | V>I | No | Ensembl | |
| rs2145765033 | 1401 | V>L | No | Ensembl | |
| rs1048138769 | 1402 | H>D | No |
TOPMed gnomAD |
|
| rs2145765046 | 1402 | H>L | No | Ensembl | |
| rs2145765049 | 1402 | H>Q | No | Ensembl | |
| rs1048138769 | 1402 | H>Y | No |
TOPMed gnomAD |
|
| rs1569116968 | 1403 | F>L | No | Ensembl | |
| rs2145765058 | 1404 | F>L | No | Ensembl | |
| rs2145765055 | 1404 | F>L | No | Ensembl | |
| rs758324686 | 1405 | R>C | No |
ExAC gnomAD |
|
| rs758324686 | 1405 | R>G | No |
ExAC gnomAD |
|
| rs138855106 | 1405 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs138855106 | 1405 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs758324686 | 1405 | R>S | No |
ExAC gnomAD |
|
| rs2145765092 | 1406 | P>A | No | Ensembl | |
| rs931349295 | 1406 | P>H | No | Ensembl | |
| rs931349295 | 1406 | P>L | No | Ensembl | |
| rs931349295 | 1406 | P>R | No | Ensembl | |
| rs2145765092 | 1406 | P>S | No | Ensembl | |
| rs2145765092 | 1406 | P>T | No | Ensembl | |
| rs2145765104 | 1407 | K>* | No | Ensembl | |
| rs2145765112 | 1407 | K>I | No | Ensembl | |
| rs142802640 | 1407 | K>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145765104 | 1407 | K>Q | No | Ensembl | |
| rs2145765126 | 1408 | C>* | No | Ensembl | |
| rs942542597 | 1408 | C>F | No | TOPMed | |
| rs2145765119 | 1408 | C>S | No | Ensembl | |
| rs942542597 | 1408 | C>S | No | TOPMed | |
| rs2145765126 | 1408 | C>W | No | Ensembl | |
|
rs2145765137 COSM419538 |
1409 | L>F | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
cosmic curated Ensembl NCI-TCGA Cosmic |
| rs2145765134 | 1409 | L>M | No | Ensembl | |
| rs2059158445 | 1410 | R>G | No | Ensembl | |
| rs2145765152 | 1410 | R>K | No | Ensembl | |
|
TCGA novel rs2145765152 |
1410 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| COSM4605343 | 1410 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2059158445 | 1410 | R>W | No | Ensembl | |
| TCGA novel | 1411 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1601633708 | 1411 | T>S | No | Ensembl | |
| rs887226313 | 1412 | A>E | No |
TOPMed gnomAD |
|
| rs887226313 | 1412 | A>G | No |
TOPMed gnomAD |
|
| rs1338405902 | 1412 | A>P | No | gnomAD | |
| rs1338405902 | 1412 | A>S | No | gnomAD | |
| rs1338405902 | 1412 | A>T | No | gnomAD | |
| rs2145765183 | 1413 | V>D | No | Ensembl | |
| rs2145765177 | 1413 | V>I | No | Ensembl | |
| rs2145765177 | 1413 | V>L | No | Ensembl | |
| rs2059158543 | 1414 | Y>* | No | TOPMed | |
|
COSM727028 rs2145765199 |
1414 | Y>C | lung ovary liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| TCGA novel | 1414 | Y>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145765199 | 1414 | Y>F | No | Ensembl | |
| rs2145765190 | 1414 | Y>H | No | Ensembl | |
| rs2145765190 | 1414 | Y>N | No | Ensembl | |
| rs2145765199 | 1414 | Y>S | No | Ensembl | |
| rs2145765206 | 1415 | H>D | No | Ensembl | |
| rs2145765206 | 1415 | H>N | No | Ensembl | |
| rs748268510 | 1415 | H>R | No |
ExAC gnomAD |
|
| rs2145765235 | 1416 | E>G | No | Ensembl | |
| rs2059158572 | 1416 | E>K | No | Ensembl | |
| rs2059158572 | 1416 | E>Q | No | Ensembl | |
| rs2145765258 | 1417 | I>M | No | Ensembl | |
| rs2145765251 | 1417 | I>N | No | Ensembl | |
| rs1039568620 | 1418 | L>I | No |
TOPMed gnomAD |
|
| rs2145765272 | 1418 | L>Q | No | Ensembl | |
| rs1039568620 | 1418 | L>V | No |
TOPMed gnomAD |
|
| rs1444385942 | 1419 | I>L | No | gnomAD | |
| rs1278019392 | 1419 | I>N | No |
TOPMed gnomAD |
|
|
rs1278019392 COSM3964352 |
1419 | I>T | lung [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs2145765285 | 1420 | G>* | No | Ensembl | |
| rs2145765290 | 1420 | G>A | No | Ensembl | |
| rs2145765290 | 1420 | G>E | No | Ensembl | |
| rs2145765285 | 1420 | G>R | No | Ensembl | |
| rs2145765290 | 1420 | G>V | No | Ensembl | |
| rs769846473 | 1421 | Y>C | No |
ExAC gnomAD |
|
| rs2145765299 | 1421 | Y>N | No | Ensembl | |
| rs1362594048 | 1422 | L>* | No |
TOPMed gnomAD |
|
| rs780779983 | 1422 | L>I | No |
ExAC gnomAD |
|
| rs1362594048 | 1422 | L>S | No |
TOPMed gnomAD |
|
| rs780779983 | 1422 | L>V | No |
ExAC gnomAD |
|
| rs2059158722 | 1423 | E>D | No | gnomAD | |
| rs1322106232 | 1423 | E>G | No |
TOPMed gnomAD |
|
| rs2145765311 | 1423 | E>K | No | Ensembl | |
| rs2145765311 | 1423 | E>Q | No | Ensembl | |
| rs2145765323 | 1424 | Y>* | No | Ensembl | |
| rs2145765319 | 1424 | Y>N | No | Ensembl | |
| rs1285984054 | 1425 | V>A | No |
TOPMed gnomAD |
|
| rs1285984054 | 1425 | V>D | No |
TOPMed gnomAD |
|
| rs1285984054 | 1425 | V>G | No |
TOPMed gnomAD |
|
| rs749509887 | 1425 | V>I | No | ExAC | |
| rs749509887 | 1425 | V>L | No | ExAC | |
| rs2145765336 | 1426 | K>N | No | Ensembl | |
| rs2145765340 | 1427 | K>R | No | Ensembl | |
| rs2145765345 | 1428 | L>* | No | Ensembl | |
| rs2145765345 | 1428 | L>S | No | Ensembl | |
| rs1488422086 | 1428 | L>V | No | gnomAD | |
| rs2145765354 | 1429 | G>C | No | Ensembl | |
| rs2145766327 | 1430 | Y>* | No | Ensembl | |
| rs2145766324 | 1430 | Y>C | No | Ensembl | |
| rs2145766324 | 1430 | Y>F | No | Ensembl | |
| rs2145766334 | 1431 | T>I | No | Ensembl | |
| rs2145766334 | 1431 | T>K | No | Ensembl | |
| rs2059162773 | 1431 | T>P | No | gnomAD | |
| rs2145766334 | 1431 | T>R | No | Ensembl | |
| rs2059162773 | 1431 | T>S | No | gnomAD | |
| rs2145766350 | 1432 | T>A | No | Ensembl | |
| rs2145766364 | 1432 | T>I | No | Ensembl | |
| rs2145766364 | 1432 | T>R | No | Ensembl | |
| rs2145766350 | 1432 | T>S | No | Ensembl | |
| rs2145766377 | 1433 | G>A | No | Ensembl | |
| rs2145766377 | 1433 | G>E | No | Ensembl | |
| rs2145766372 | 1433 | G>R | No | Ensembl | |
| rs2145766377 | 1433 | G>V | No | Ensembl | |
| rs2145766372 | 1433 | G>W | No | Ensembl | |
| rs2059162854 | 1434 | H>D | No | Ensembl | |
| rs2145766390 | 1434 | H>L | No | Ensembl | |
| rs2145766395 | 1434 | H>Q | No | Ensembl | |
|
COSM3740445 rs2145766390 |
1434 | H>R | liver [Cosmic] | No |
cosmic curated Ensembl |
| rs2059162854 | 1434 | H>Y | No | Ensembl | |
| rs2145766398 | 1435 | I>N | No | Ensembl | |
| rs2145766398 | 1435 | I>S | No | Ensembl | |
| rs2145766398 | 1435 | I>T | No | Ensembl | |
|
rs893031937 RCV001665380 |
1436 | W>* | No |
ClinVar Ensembl dbSNP |
|
| rs2145766411 | 1436 | W>* | No | Ensembl | |
| rs2145766411 | 1436 | W>C | No | Ensembl | |
|
COSM4387469 rs893031937 |
1436 | W>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| COSM6008923 | 1436 | W>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs893031937 | 1436 | W>S | No | Ensembl | |
| rs769217956 | 1437 | A>E | No |
ExAC gnomAD |
|
| rs769217956 | 1437 | A>G | No |
ExAC gnomAD |
|
| rs2145766414 | 1437 | A>P | No | Ensembl | |
| rs2145766414 | 1437 | A>S | No | Ensembl | |
| rs2145766414 | 1437 | A>T | No | Ensembl | |
|
COSM1196512 rs769217956 |
1437 | A>V | lung [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs2145766438 | 1438 | C>F | No | Ensembl | |
|
COSM3357343 rs2145766432 |
1438 | C>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
| rs2145766432 | 1438 | C>S | No | Ensembl | |
| rs2145766438 | 1438 | C>S | No | Ensembl | |
| rs2145766438 | 1438 | C>Y | No | Ensembl | |
| rs1336066957 | 1439 | P>A | No | TOPMed | |
| rs2145766449 | 1439 | P>L | No | Ensembl | |
| rs2145766449 | 1439 | P>Q | No | Ensembl | |
| rs2145766449 | 1439 | P>R | No | Ensembl | |
| rs1336066957 | 1439 | P>S | No | TOPMed | |
| rs1336066957 | 1439 | P>T | No | TOPMed | |
| rs2145766457 | 1440 | P>A | No | Ensembl | |
|
COSM1682288 rs2145766461 |
1440 | P>L | lung large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs2145766461 | 1440 | P>Q | No | Ensembl | |
| rs2145766461 | 1440 | P>R | No | Ensembl | |
| rs2145766457 | 1440 | P>S | No | Ensembl | |
| rs2145766470 | 1441 | S>N | No | Ensembl | |
| rs2145766474 | 1441 | S>R | No | Ensembl | |
| rs2145766470 | 1441 | S>T | No | Ensembl | |
| rs2145766479 | 1442 | E>* | No | Ensembl | |
| rs2145766488 | 1442 | E>D | No | Ensembl | |
| rs2145766479 | 1442 | E>K | No | Ensembl | |
| rs2145766479 | 1442 | E>Q | No | Ensembl | |
| rs2145766486 | 1442 | E>V | No | Ensembl | |
| rs2145766491 | 1443 | G>* | No | Ensembl | |
| rs2145766495 | 1443 | G>A | No | Ensembl | |
| rs2145766495 | 1443 | G>E | No | Ensembl | |
| rs2145766491 | 1443 | G>R | No | Ensembl | |
| rs2145766495 | 1443 | G>V | No | Ensembl | |
| rs2145766521 | 1444 | D>E | No | Ensembl | |
| rs2145766498 | 1444 | D>H | No | Ensembl | |
| rs2145766498 | 1444 | D>N | No | Ensembl | |
| rs1569117388 | 1444 | D>V | No | Ensembl | |
| rs2145766534 | 1445 | D>E | No | Ensembl | |
| rs2145766527 | 1445 | D>H | No | Ensembl | |
| rs2145766527 | 1445 | D>N | No | Ensembl | |
| rs2145766527 | 1445 | D>Y | No | Ensembl | |
| rs2145766548 | 1446 | Y>* | No | Ensembl | |
| rs2145766541 | 1446 | Y>C | No | Ensembl | |
| rs2145766541 | 1446 | Y>F | No | Ensembl | |
| rs2145766537 | 1446 | Y>H | No | Ensembl | |
| rs2145766537 | 1446 | Y>N | No | Ensembl | |
| rs1448116681 | 1447 | I>L | No |
TOPMed gnomAD |
|
| rs766096734 | 1447 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs2145766562 | 1447 | I>T | No | Ensembl | |
| rs113856266 | 1448 | F>I | No | Ensembl | |
| rs1301481387 | 1448 | F>L | No |
TOPMed gnomAD |
|
| rs113856266 | 1448 | F>L | No | Ensembl | |
| rs2059163007 | 1448 | F>S | No | Ensembl | |
| rs2145766581 | 1449 | H>D | No | Ensembl | |
| rs2059163036 | 1449 | H>L | No | TOPMed | |
| rs2145766581 | 1449 | H>N | No | Ensembl | |
| rs2059163036 | 1449 | H>P | No | TOPMed | |
| rs137986257 | 1449 | H>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145766581 | 1449 | H>Y | No | Ensembl | |
| rs2145766602 | 1450 | C>* | No | Ensembl | |
| rs2145766597 | 1450 | C>S | No | Ensembl | |
| rs2145766602 | 1450 | C>W | No | Ensembl | |
|
COSM254672 rs2145766609 |
1451 | H>L | urinary_tract [Cosmic] | No |
cosmic curated Ensembl |
|
rs2145766609 COSM1484264 |
1451 | H>P | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs373752539 | 1451 | H>Q | No |
ESP ExAC TOPMed gnomAD |
|
| COSM1034564 | 1451 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2145766607 | 1451 | H>Y | No | Ensembl | |
| rs2145766621 | 1452 | P>A | No | Ensembl | |
|
rs2145766624 COSM135925 |
1452 | P>H | skin [Cosmic] | No |
cosmic curated Ensembl |
|
rs2145766624 COSM13867 |
1452 | P>L | upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2145766624 | 1452 | P>R | No | Ensembl | |
| rs2145766621 | 1452 | P>S | No | Ensembl | |
| rs767216111 | 1453 | P>A | No |
ExAC gnomAD |
|
| rs2145766635 | 1453 | P>H | No | Ensembl | |
| rs767216111 | 1453 | P>T | No |
ExAC gnomAD |
|
| TCGA novel | 1453 | P>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145766635 | 1453 | P>L | No | Ensembl | |
| rs767216111 | 1453 | P>S | No |
ExAC gnomAD |
|
| rs2145766658 | 1454 | D>E | No | Ensembl | |
| rs2059163106 | 1454 | D>H | No | gnomAD | |
| rs2059163106 | 1454 | D>N | No | gnomAD | |
| rs1555911313 | 1455 | Q>E | No | Ensembl | |
|
rs2145766671 COSM1308207 |
1455 | Q>H | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs1555911313 | 1455 | Q>K | No | Ensembl | |
| rs2145766667 | 1455 | Q>L | No | Ensembl | |
| COSM320131 | 1455 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2059163145 | 1456 | K>M | No | Ensembl | |
| rs2145766679 | 1456 | K>N | No | Ensembl | |
| rs2059163145 | 1456 | K>R | No | Ensembl | |
| rs1487932572 | 1458 | P>A | No | gnomAD | |
| rs2145766689 | 1458 | P>H | No | Ensembl | |
| rs2145766689 | 1458 | P>L | No | Ensembl | |
| rs2145766689 | 1458 | P>R | No | Ensembl | |
| rs1487932572 | 1458 | P>T | No | gnomAD | |
| rs2145766694 | 1459 | K>* | No | Ensembl | |
|
TCGA novel rs2145766698 |
1459 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2145766694 | 1459 | K>Q | No | Ensembl | |
| rs2145766698 | 1459 | K>R | No | Ensembl | |
| rs1205543825 | 1460 | P>A | No | gnomAD | |
| rs2145766708 | 1460 | P>H | No | Ensembl | |
| rs2145766708 | 1460 | P>L | No | Ensembl | |
| rs2145766708 | 1460 | P>R | No | Ensembl | |
| rs1205543825 | 1460 | P>S | No | gnomAD | |
| rs1205543825 | 1460 | P>T | No | gnomAD | |
| rs2145766712 | 1461 | K>* | No | Ensembl | |
| rs2145766718 | 1461 | K>M | No | Ensembl | |
| rs1380558833 | 1461 | K>N | No | TOPMed | |
| rs2145766718 | 1461 | K>R | No | Ensembl | |
| rs2145766718 | 1461 | K>T | No | Ensembl | |
| rs2145766724 | 1462 | R>* | No | Ensembl | |
| rs2145766724 | 1462 | R>G | No | Ensembl | |
| rs1263559023 | 1462 | R>P | No | gnomAD | |
| rs1263559023 | 1462 | R>Q | No | gnomAD | |
| COSM4104436 | 1463 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2145766735 | 1463 | L>V | No | Ensembl | |
| rs1601634247 | 1464 | Q>E | No | Ensembl | |
| rs2145766748 | 1464 | Q>H | No | Ensembl | |
| rs1601634247 | 1464 | Q>K | No | Ensembl | |
|
COSM350324 rs2145766746 |
1464 | Q>L | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs2145766746 | 1464 | Q>R | No | Ensembl | |
| rs2145766750 | 1465 | E>* | No | Ensembl | |
| rs2145766764 | 1465 | E>D | No | Ensembl | |
| rs2145766758 | 1465 | E>G | No | Ensembl | |
| rs2145766750 | 1465 | E>K | No | Ensembl | |
| rs2145766750 | 1465 | E>Q | No | Ensembl | |
| rs2145766758 | 1465 | E>V | No | Ensembl | |
| rs2145766780 | 1466 | W>* | No | Ensembl | |
| rs2059163270 | 1466 | W>* | No | Ensembl | |
|
COSM4978064 rs2145766780 |
1466 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2059163250 | 1466 | W>G | No | gnomAD | |
|
COSM1205369 rs2059163270 |
1466 | W>L | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2059163250 | 1466 | W>R | No | gnomAD | |
| rs2059163270 | 1466 | W>S | No | Ensembl | |
| rs2145766788 | 1467 | Y>F | No | Ensembl | |
|
COSM220521 rs200897987 |
1467 | Y>N | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated 1000Genomes |
| rs903021800 | 1468 | K>I | No | Ensembl | |
| rs903021800 | 1468 | K>R | No | Ensembl | |
| rs2145766801 | 1469 | K>N | No | Ensembl | |
| rs2145766797 | 1469 | K>R | No | Ensembl | |
| COSM3153169 | 1470 | M>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2145766805 | 1470 | M>K | No | Ensembl | |
| rs1569117424 | 1470 | M>L | No | Ensembl | |
| rs2145766808 | 1471 | L>F | No | Ensembl | |
| rs2145766808 | 1471 | L>I | No | Ensembl | |
| rs2145766808 | 1471 | L>V | No | Ensembl | |
| rs752425179 | 1472 | D>A | No |
ExAC gnomAD |
|
| rs2145766824 | 1472 | D>E | No | Ensembl | |
| rs2145766817 | 1472 | D>H | No | Ensembl | |
| rs2145766817 | 1472 | D>N | No | Ensembl | |
| rs752425179 | 1472 | D>V | No |
ExAC gnomAD |
|
| rs2145766817 | 1472 | D>Y | No | Ensembl | |
| rs1159592531 | 1473 | K>E | No | Ensembl | |
| rs1441978460 | 1473 | K>N | No | TOPMed | |
| rs1159592531 | 1473 | K>Q | No | Ensembl | |
| rs2059163372 | 1473 | K>R | No | Ensembl | |
| rs1187857902 | 1474 | A>D | No | gnomAD | |
| rs1187857902 | 1474 | A>G | No | gnomAD | |
| rs2145766833 | 1474 | A>P | No | Ensembl | |
| rs2145766833 | 1474 | A>T | No | Ensembl | |
| rs1187857902 | 1474 | A>V | No | gnomAD | |
| rs2145766847 | 1475 | V>A | No | Ensembl | |
| rs2145766847 | 1475 | V>E | No | Ensembl | |
| rs2145766847 | 1475 | V>G | No | Ensembl | |
| rs1003159846 | 1475 | V>I | No |
TOPMed gnomAD |
|
| rs1003159846 | 1475 | V>L | No |
TOPMed gnomAD |
|
| rs2145766853 | 1476 | S>* | No | Ensembl | |
| rs2145766853 | 1476 | S>L | No | Ensembl | |
| rs2145766850 | 1476 | S>T | No | Ensembl | |
| rs1385723029 | 1477 | E>D | No | gnomAD | |
| rs2145766864 | 1477 | E>K | No | Ensembl | |
| rs2145766864 | 1477 | E>Q | No | Ensembl | |
| rs2145766870 | 1477 | E>V | No | Ensembl | |
|
RCV001255098 rs1445337631 |
1478 | R>C | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1445337631 | 1478 | R>G | No |
TOPMed gnomAD |
|
| rs756061989 | 1478 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs756061989 | 1478 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs756061989 | 1478 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs1445337631 | 1478 | R>S | No |
TOPMed gnomAD |
|
| rs2059163497 | 1479 | I>L | No | TOPMed | |
| rs2059163497 | 1479 | I>V | No | TOPMed | |
| rs1056896827 | 1480 | V>D | No | Ensembl | |
| rs1056896827 | 1480 | V>G | No | Ensembl | |
| rs753948138 | 1480 | V>I | No |
ExAC gnomAD |
|
| rs753948138 | 1480 | V>L | No |
ExAC gnomAD |
|
| rs1289873199 | 1481 | H>D | No |
TOPMed gnomAD |
|
| rs2145766914 | 1481 | H>L | No | Ensembl | |
| rs1289873199 | 1481 | H>N | No |
TOPMed gnomAD |
|
| rs2145766914 | 1481 | H>P | No | Ensembl | |
| rs2145766920 | 1481 | H>Q | No | Ensembl | |
| rs1289873199 | 1481 | H>Y | No |
TOPMed gnomAD |
|
| rs1324202061 | 1482 | D>G | No | gnomAD | |
| rs2145766924 | 1482 | D>H | No | Ensembl | |
| rs2145766924 | 1482 | D>N | No | Ensembl | |
| rs2145766947 | 1483 | Y>* | No | Ensembl | |
| rs757248482 | 1483 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs757248482 | 1483 | Y>F | No |
ExAC TOPMed gnomAD |
|
| rs2145766932 | 1483 | Y>H | No | Ensembl | |
| rs2145766932 | 1483 | Y>N | No | Ensembl | |
| rs757248482 | 1483 | Y>S | No |
ExAC TOPMed gnomAD |
|
| rs2145766951 | 1484 | K>E | No | Ensembl | |
| rs2145766953 | 1484 | K>M | No | Ensembl | |
| rs2145766960 | 1484 | K>N | No | Ensembl | |
| rs2145766953 | 1484 | K>R | No | Ensembl | |
| rs2059176550 | 1485 | D>E | No | gnomAD | |
| rs1569118473 | 1485 | D>G | No | gnomAD | |
| rs2145769934 | 1485 | D>H | No | Ensembl | |
| rs2145769934 | 1485 | D>N | No | Ensembl | |
| rs1299351736 | 1486 | I>V | No | gnomAD | |
| rs1348293551 | 1487 | F>L | No | gnomAD | |
| rs2145769947 | 1487 | F>L | No | Ensembl | |
|
TCGA novel rs2145769952 |
1488 | K>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2145769952 | 1488 | K>E | No | Ensembl | |
| rs2145769956 | 1488 | K>I | No | Ensembl | |
| rs2059176597 | 1488 | K>N | No | Ensembl | |
| rs2059176610 | 1489 | Q>* | No | TOPMed | |
| rs2059176610 | 1489 | Q>E | No | TOPMed | |
| rs2059176610 | 1489 | Q>K | No | TOPMed | |
| rs2145769970 | 1489 | Q>L | No | Ensembl | |
| rs2145769970 | 1489 | Q>R | No | Ensembl | |
| rs2145769982 | 1490 | A>D | No | Ensembl | |
| rs2145769982 | 1490 | A>G | No | Ensembl | |
| COSM1034566 | 1490 | A>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2145769974 | 1490 | A>P | No | Ensembl | |
| rs2145769974 | 1490 | A>S | No | Ensembl | |
| rs2145769974 | 1490 | A>T | No | Ensembl | |
| rs2145769982 | 1490 | A>V | No | Ensembl | |
| rs2145769988 | 1491 | T>A | No | Ensembl | |
| rs2145769994 | 1491 | T>I | No | Ensembl | |
| rs2145769994 | 1491 | T>N | No | Ensembl | |
| rs2145769988 | 1491 | T>P | No | Ensembl | |
| rs2145769988 | 1491 | T>S | No | Ensembl | |
| rs2145769994 | 1491 | T>S | No | Ensembl | |
| rs1408820045 | 1492 | E>* | No | gnomAD | |
| rs2145770012 | 1492 | E>D | No | Ensembl | |
| rs1408820045 | 1492 | E>K | No | gnomAD | |
| rs1408820045 | 1492 | E>Q | No | gnomAD | |
| rs2145770014 | 1493 | D>H | No | Ensembl | |
| rs2145770014 | 1493 | D>N | No | Ensembl | |
| TCGA novel | 1493 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145770020 | 1494 | R>* | No | Ensembl | |
| rs2145770020 | 1494 | R>G | No | Ensembl | |
| rs2145770024 | 1494 | R>K | No | Ensembl | |
| rs2145770024 | 1494 | R>T | No | Ensembl | |
| rs2145770043 | 1495 | L>F | No | Ensembl | |
| rs2145770032 | 1495 | L>I | No | Ensembl | |
| rs2145770032 | 1495 | L>V | No | Ensembl | |
| rs2145770047 | 1496 | T>A | No | Ensembl | |
| rs2145770052 | 1496 | T>I | No | Ensembl | |
| rs2145770052 | 1496 | T>K | No | Ensembl | |
| rs2145770047 | 1496 | T>P | No | Ensembl | |
|
rs2145770052 RCV001766865 |
1496 | T>R | No |
ClinVar Ensembl dbSNP |
|
| rs2145770047 | 1496 | T>S | No | Ensembl | |
| rs2145770066 | 1497 | S>C | No | Ensembl | |
| rs2145770066 | 1497 | S>G | No | Ensembl | |
| rs2059176681 | 1497 | S>N | No | TOPMed | |
| rs2145770076 | 1497 | S>R | No | Ensembl | |
| rs2059176681 | 1497 | S>T | No | TOPMed | |
| rs2145770085 | 1498 | A>P | No | Ensembl | |
| rs2145770085 | 1498 | A>S | No | Ensembl | |
|
rs2145770085 COSM220523 |
1498 | A>T | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
| rs2145770093 | 1499 | K>* | No | Ensembl | |
| rs2145770093 | 1499 | K>E | No | Ensembl | |
| rs2145770100 | 1499 | K>M | No | Ensembl | |
| rs2145770105 | 1499 | K>N | No | Ensembl | |
| rs2145770107 | 1500 | E>* | No | Ensembl | |
| rs2145770111 | 1500 | E>D | No | Ensembl | |
| rs2145770110 | 1500 | E>G | No | Ensembl | |
| rs2145770107 | 1500 | E>K | No | Ensembl | |
| rs2145770107 | 1500 | E>Q | No | Ensembl | |
| rs2145770110 | 1500 | E>V | No | Ensembl | |
| rs2145770118 | 1501 | L>* | No | Ensembl | |
| rs368320273 | 1501 | L>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2145770115 | 1501 | L>M | No | Ensembl | |
| rs2145770118 | 1501 | L>S | No | Ensembl | |
| rs2145770115 | 1501 | L>V | No | Ensembl | |
| rs2145770127 | 1502 | P>A | No | Ensembl | |
| rs2145770127 | 1502 | P>S | No | Ensembl | |
| rs2145770127 | 1502 | P>T | No | Ensembl | |
| rs2145770134 | 1503 | Y>F | No | Ensembl | |
| rs2145770139 | 1504 | F>I | No | Ensembl | |
| rs2145770139 | 1504 | F>L | No | Ensembl | |
| rs773749974 | 1504 | F>L | No |
ExAC TOPMed gnomAD |
|
|
rs1555911574 COSM1535435 COSM6162156 |
1505 | E>* | lung Variant assessed as Somatic; HIGH impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic TOPMed |
| rs2059176809 | 1505 | E>D | No | Ensembl | |
| rs2145770154 | 1505 | E>G | No | Ensembl | |
| rs1555911574 | 1505 | E>K | No | TOPMed | |
| rs1555911574 | 1505 | E>Q | No | TOPMed | |
| rs2145770154 | 1505 | E>V | No | Ensembl | |
| rs2145770177 | 1506 | G>A | No | Ensembl | |
| rs2145770170 | 1506 | G>C | No | Ensembl | |
| rs2145770177 | 1506 | G>D | No | Ensembl | |
| rs2145770170 | 1506 | G>R | No | Ensembl | |
| rs2145770170 | 1506 | G>S | No | Ensembl | |
|
COSM88781 rs2145770177 |
1506 | G>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
| rs745337408 | 1507 | D>E | No |
ExAC gnomAD |
|
| rs2145770189 | 1507 | D>G | No | Ensembl | |
| COSM1661670 | 1507 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2145770189 | 1507 | D>V | No | Ensembl | |
| rs2145770199 | 1508 | F>L | No | Ensembl | |
| rs771739537 | 1508 | F>L | No |
ExAC gnomAD |
|
| rs775090772 | 1508 | F>S | No |
ExAC gnomAD |
|
| rs771739537 | 1508 | F>V | No |
ExAC gnomAD |
|
| rs775090772 | 1508 | F>Y | No |
ExAC gnomAD |
|
| rs2145770204 | 1509 | W>* | No | Ensembl | |
| rs2145770210 | 1509 | W>* | No | Ensembl | |
| rs2145770210 | 1509 | W>C | No | Ensembl | |
| rs2145770204 | 1509 | W>L | No | Ensembl | |
| rs2145770204 | 1509 | W>S | No | Ensembl | |
| rs2145770215 | 1510 | P>A | No | Ensembl | |
| rs1569118503 | 1510 | P>H | No | Ensembl | |
| rs1569118503 | 1510 | P>L | No | Ensembl | |
| rs2145770215 | 1510 | P>S | No | Ensembl | |
| rs2145770215 | 1510 | P>T | No | Ensembl | |
|
rs763860567 VAR_074021 |
1511 | N>I | No |
ExAC TOPMed gnomAD UniProt |
|
| rs763860567 | 1511 | N>T | No |
ExAC TOPMed gnomAD |
|
| rs2145770227 | 1511 | N>Y | No | Ensembl | |
| rs2145770244 | 1512 | V>D | No | Ensembl | |
| rs2145770244 | 1512 | V>G | No | Ensembl | |
| rs2145770236 | 1512 | V>I | No | Ensembl | |
| rs2145770236 | 1512 | V>L | No | Ensembl | |
| rs1479222067 | 1513 | L>M | No |
TOPMed gnomAD |
|
| rs1479222067 | 1513 | L>V | No |
TOPMed gnomAD |
|
| rs2145770256 | 1514 | E>* | No | Ensembl | |
| rs2145770269 | 1514 | E>D | No | Ensembl | |
| rs2145770264 | 1514 | E>G | No | Ensembl | |
|
COSM1716512 rs2145770256 |
1514 | E>K | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2145770256 | 1514 | E>Q | No | Ensembl | |
| rs2145770264 | 1514 | E>V | No | Ensembl | |
| rs2145770276 | 1515 | E>K | No | Ensembl | |
| rs2145770279 | 1515 | E>V | No | Ensembl | |
| rs2145770283 | 1516 | S>C | No | Ensembl | |
| rs2145770283 | 1516 | S>G | No | Ensembl | |
| rs2145770290 | 1516 | S>I | No | Ensembl | |
| rs2145770290 | 1516 | S>N | No | Ensembl | |
| rs2145770291 | 1516 | S>R | No | Ensembl | |
| rs2145770290 | 1516 | S>T | No | Ensembl | |
| rs776697057 | 1517 | I>L | No |
ExAC gnomAD |
|
| rs2145770296 | 1517 | I>N | No | Ensembl | |
|
TCGA novel rs2145770296 |
1517 | I>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2145770296 | 1517 | I>T | No | Ensembl | |
| rs2145770304 | 1518 | K>* | No | Ensembl | |
| rs2145770304 | 1518 | K>E | No | Ensembl | |
| rs2145770310 | 1518 | K>N | No | Ensembl | |
| rs2145770318 | 1519 | E>* | No | Ensembl | |
| rs2145770328 | 1519 | E>D | No | Ensembl | |
| rs2145770318 | 1519 | E>K | No | Ensembl | |
| rs2145770318 | 1519 | E>Q | No | Ensembl | |
| rs2145770325 | 1519 | E>V | No | Ensembl | |
| rs761660410 | 1520 | L>M | No |
ExAC TOPMed gnomAD |
|
| rs761660410 | 1520 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs1233535680 | 1521 | E>* | No | TOPMed | |
| rs2145770347 | 1521 | E>D | No | Ensembl | |
| rs1233535680 | 1521 | E>K | No | TOPMed | |
|
COSM254673 rs1233535680 |
1521 | E>Q | urinary_tract [Cosmic] | No |
cosmic curated TOPMed |
| rs1161955852 | 1522 | Q>E | No |
TOPMed gnomAD |
|
| rs765163038 | 1522 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs1161955852 | 1522 | Q>K | No |
TOPMed gnomAD |
|
| rs2145770353 | 1522 | Q>R | No | Ensembl | |
| rs2145770373 | 1523 | E>D | No | Ensembl | |
| rs2145770367 | 1523 | E>G | No | Ensembl | |
| rs2145770361 | 1523 | E>K | No | Ensembl | |
| rs2145770361 | 1523 | E>Q | No | Ensembl | |
| rs2145770367 | 1523 | E>V | No | Ensembl | |
| rs2145770380 | 1524 | E>* | No | Ensembl | |
| rs2059177112 | 1524 | E>D | No | gnomAD | |
| rs2145770380 | 1524 | E>K | No | Ensembl | |
| rs2145770380 | 1524 | E>Q | No | Ensembl | |
| rs2145770397 | 1525 | E>D | No | Ensembl | |
| rs1429199171 | 1525 | E>K | No | TOPMed | |
| rs1429199171 | 1525 | E>Q | No | TOPMed | |
| rs2145770392 | 1525 | E>V | No | Ensembl | |
|
COSM1308208 rs2145770409 |
1526 | E>D | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2145770406 | 1526 | E>G | No | Ensembl | |
| rs2145770401 | 1526 | E>K | No | Ensembl | |
| rs2145770401 | 1526 | E>Q | No | Ensembl | |
| rs2145770406 | 1526 | E>V | No | Ensembl | |
| rs2145770415 | 1527 | R>I | No | Ensembl | |
| rs2145770415 | 1527 | R>K | No | Ensembl | |
| rs2145770415 | 1527 | R>T | No | Ensembl | |
| rs2145770423 | 1528 | K>E | No | Ensembl | |
| rs2145770425 | 1528 | K>I | No | Ensembl | |
| rs2145770432 | 1528 | K>N | No | Ensembl | |
| rs2145770425 | 1528 | K>R | No | Ensembl | |
| rs2145770425 | 1528 | K>T | No | Ensembl | |
| rs1569118537 | 1529 | R>G | No | Ensembl | |
| rs2059177171 | 1529 | R>P | No | TOPMed | |
| rs2059177171 | 1529 | R>Q | No | TOPMed | |
| rs2145770462 | 1530 | E>* | No | Ensembl | |
| rs2145770466 | 1530 | E>D | No | Ensembl | |
| rs2145770462 | 1530 | E>K | No | Ensembl | |
| rs2145770462 | 1530 | E>Q | No | Ensembl | |
| rs2145770473 | 1531 | E>A | No | Ensembl | |
| rs2145770476 | 1531 | E>D | No | Ensembl | |
| rs2059177183 | 1531 | E>K | No |
TOPMed gnomAD |
|
| rs2145770480 | 1532 | N>D | No | Ensembl | |
| rs2145770480 | 1532 | N>H | No | Ensembl | |
| rs2145770486 | 1532 | N>I | No | Ensembl | |
| rs2145770490 | 1532 | N>K | No | Ensembl | |
| rs2145770486 | 1532 | N>S | No | Ensembl | |
| rs2145770480 | 1532 | N>Y | No | Ensembl | |
| rs2145770496 | 1533 | T>A | No | Ensembl | |
| rs886057561 | 1533 | T>I | No | Ensembl | |
| rs886057561 | 1533 | T>N | No | Ensembl | |
| rs886057561 | 1533 | T>S | No | Ensembl | |
| rs2059177246 | 1534 | S>I | No | Ensembl | |
| rs2059177246 | 1534 | S>N | No | Ensembl | |
| rs758523229 | 1534 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs2059177246 | 1534 | S>T | No | Ensembl | |
| rs2145770521 | 1535 | N>K | No | Ensembl | |
| rs766758292 | 1535 | N>S | No |
ExAC TOPMed gnomAD |
|
|
COSM3842762 rs2145770530 |
1536 | E>D | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2145770525 | 1536 | E>K | No | Ensembl | |
| rs2145770525 | 1536 | E>Q | No | Ensembl | |
| rs2145770534 | 1537 | S>G | No | Ensembl | |
| rs2145770540 | 1537 | S>I | No | Ensembl | |
| rs2145770540 | 1537 | S>N | No | Ensembl | |
| rs1303397164 | 1537 | S>R | No |
TOPMed gnomAD |
|
| rs2145770540 | 1537 | S>T | No | Ensembl | |
| rs2145770547 | 1538 | T>A | No | Ensembl | |
| rs2145770553 | 1538 | T>I | No | Ensembl | |
| rs2145770553 | 1538 | T>K | No | Ensembl | |
| rs2145770547 | 1538 | T>P | No | Ensembl | |
| rs2145770553 | 1538 | T>R | No | Ensembl | |
| rs2145770547 | 1538 | T>S | No | Ensembl | |
| rs112022505 | 1539 | D>E | No |
ESP TOPMed |
|
| rs2145770562 | 1539 | D>G | No | Ensembl | |
| rs2145770561 | 1539 | D>H | No | Ensembl | |
| rs2145770561 | 1539 | D>N | No | Ensembl | |
| rs2145770562 | 1539 | D>V | No | Ensembl | |
| rs1191455708 | 1540 | V>M | No |
TOPMed gnomAD |
|
| rs778189001 | 1541 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs1408199548 | 1541 | T>I | No | gnomAD | |
| TCGA novel | 1542 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs753807459 | 1543 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs753807459 | 1543 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs1453264502 | 1544 | D>E | No | gnomAD | |
| COSM88791 | 1547 | N>M | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1483018665 | 1551 | K>N | No | Ensembl | |
| rs376183002 | 1552 | N>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs746455751 | 1553 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs756278305 | 1556 | T>I | No |
ExAC gnomAD |
|
| rs2145771993 | 1557 | S>N | No | Ensembl | |
| rs2145771997 | 1557 | S>R | No | Ensembl | |
| rs2145772006 | 1561 | S>N | No | Ensembl | |
| rs2145772007 | 1561 | S>R | No | Ensembl | |
| rs1266606478 | 1562 | S>N | No | gnomAD | |
| rs1329140714 | 1562 | S>R | No | gnomAD | |
| rs564848230 | 1563 | L>V | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1564 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs773091606 | 1566 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs773091606 | 1566 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs1569119043 | 1567 | N>K | No | Ensembl | |
| rs1186173163 | 1567 | N>T | No | gnomAD | |
| rs139796173 | 1569 | K>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145772067 | 1571 | P>R | No | Ensembl | |
| rs913846956 | 1571 | P>S | No | Ensembl | |
| rs952188763 | 1572 | G>R | No | TOPMed | |
| rs2145772089 | 1573 | M>I | No | Ensembl | |
| rs759652679 | 1573 | M>L | No |
ExAC gnomAD |
|
| rs759652679 | 1573 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs2145772097 | 1574 | P>H | No | Ensembl | |
| rs2145772097 | 1574 | P>L | No | Ensembl | |
| rs2145772094 | 1574 | P>S | No | Ensembl | |
| rs2059184127 | 1575 | N>D | No | TOPMed | |
| TCGA novel | 1575 | N>M | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2059184189 | 1576 | V>A | No | TOPMed | |
| rs926338099 | 1576 | V>I | No | Ensembl | |
| rs926338099 | 1576 | V>L | No | Ensembl | |
| rs2145772119 | 1577 | S>C | No | Ensembl | |
| rs760998327 | 1579 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs760998327 | 1579 | D>N | No |
ExAC TOPMed gnomAD |
|
| COSM4838629 | 1581 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1581 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145772135 | 1581 | S>T | No | Ensembl | |
| rs2145772139 | 1582 | Q>K | No | Ensembl | |
| rs757772388 | 1583 | K>R | No |
ExAC gnomAD |
|
| rs2059184350 | 1585 | Y>N | No | Ensembl | |
| rs2145772163 | 1586 | A>D | No | Ensembl | |
| rs2145772163 | 1586 | A>V | No | Ensembl | |
| rs2145772169 | 1587 | T>S | No | Ensembl | |
| rs2145772178 | 1588 | M>I | No | Ensembl | |
| rs2145772182 | 1589 | E>K | No | Ensembl | |
| rs2145772188 | 1591 | H>Q | No | Ensembl | |
| TCGA novel | 1593 | E>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145512015 | 1594 | V>A | No | Ensembl | |
| rs2145512015 | 1594 | V>D | No | Ensembl | |
| rs2145512006 | 1594 | V>F | No | Ensembl | |
| rs2145512015 | 1594 | V>G | No | Ensembl | |
| rs2145512006 | 1594 | V>I | No | Ensembl | |
| rs2145512006 | 1594 | V>L | No | Ensembl | |
| rs1451036964 | 1595 | F>L | No |
TOPMed gnomAD |
|
| TCGA novel | 1596 | F>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs777000525 | 1596 | F>L | No |
ExAC gnomAD |
|
| rs2145512066 | 1596 | F>S | No | Ensembl | |
| rs2145512066 | 1596 | F>Y | No | Ensembl | |
| rs2145512087 | 1597 | V>A | No | Ensembl | |
| rs2145512087 | 1597 | V>E | No | Ensembl | |
| rs2145512087 | 1597 | V>G | No | Ensembl | |
| rs2145512076 | 1597 | V>L | No | Ensembl | |
| rs2145512076 | 1597 | V>M | No | Ensembl | |
| rs2145512111 | 1598 | I>F | No | Ensembl | |
| rs2145512111 | 1598 | I>L | No | Ensembl | |
| rs2145512125 | 1598 | I>M | No | Ensembl | |
| rs2145512116 | 1598 | I>N | No | Ensembl | |
| rs2145512116 | 1598 | I>S | No | Ensembl | |
| rs2145512116 | 1598 | I>T | No | Ensembl | |
| rs2145512111 | 1598 | I>V | No | Ensembl | |
|
COSM1416486 rs762125682 |
1599 | R>C | large_intestine [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs762125682 | 1599 | R>G | No |
ExAC TOPMed gnomAD |
|
|
rs1204823509 COSM88783 |
1599 | R>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated gnomAD |
| rs1204823509 | 1599 | R>L | No | gnomAD | |
| rs1204823509 | 1599 | R>P | No | gnomAD | |
| rs140154690 | 1600 | L>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2145512176 | 1600 | L>H | No | Ensembl | |
| rs140154690 | 1600 | L>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2145512176 | 1600 | L>P | No | Ensembl | |
| rs2145512194 | 1601 | I>F | No | Ensembl | |
| rs2145512202 | 1601 | I>N | No | Ensembl | |
| rs2145512202 | 1601 | I>S | No | Ensembl | |
| rs2145512202 | 1601 | I>T | No | Ensembl | |
| rs2145512222 | 1602 | A>G | No | Ensembl | |
| rs2145512216 | 1602 | A>P | No | Ensembl | |
| rs2145512216 | 1602 | A>T | No | Ensembl | |
| rs2145512222 | 1602 | A>V | No | Ensembl | |
| rs2145512241 | 1603 | G>A | No | Ensembl | |
| rs2145512232 | 1603 | G>C | No | Ensembl | |
| rs2145512241 | 1603 | G>D | No | Ensembl | |
| rs2145512232 | 1603 | G>R | No | Ensembl | |
| rs2145512232 | 1603 | G>S | No | Ensembl | |
| rs2145512241 | 1603 | G>V | No | Ensembl | |
| rs2145512260 | 1604 | P>A | No | Ensembl | |
| rs1417064660 | 1604 | P>H | No |
TOPMed gnomAD |
|
| rs1417064660 | 1604 | P>L | No |
TOPMed gnomAD |
|
| rs2145512260 | 1604 | P>S | No | Ensembl | |
| rs2145512260 | 1604 | P>T | No | Ensembl | |
| rs2145512284 | 1605 | A>G | No | Ensembl | |
| rs2145512277 | 1605 | A>P | No | Ensembl | |
| rs2145512277 | 1605 | A>S | No | Ensembl | |
| rs2145512277 | 1605 | A>T | No | Ensembl | |
| rs2145512284 | 1605 | A>V | No | Ensembl | |
| rs754513034 | 1606 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs2145512299 | 1606 | A>P | No | Ensembl | |
| rs2145512299 | 1606 | A>S | No | Ensembl | |
| rs2145512299 | 1606 | A>T | No | Ensembl | |
| rs754513034 | 1606 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs2145512322 | 1607 | N>H | No | Ensembl | |
| rs767060302 | 1607 | N>I | No | ExAC | |
| rs2145512337 | 1607 | N>K | No | Ensembl | |
| rs767060302 | 1607 | N>S | No | ExAC | |
| rs767060302 | 1607 | N>T | No | ExAC | |
| rs2145512322 | 1607 | N>Y | No | Ensembl | |
| rs2145512351 | 1608 | S>P | No | Ensembl | |
| rs2145512351 | 1608 | S>T | No | Ensembl | |
| rs1426583497 | 1609 | L>M | No |
TOPMed gnomAD |
|
| rs2145512372 | 1609 | L>P | No | Ensembl | |
| rs2145512372 | 1609 | L>Q | No | Ensembl | |
| rs1458591540 | 1610 | P>A | No |
TOPMed gnomAD |
|
| rs771861948 | 1610 | P>L | No | Ensembl | |
| rs1458591540 | 1610 | P>S | No |
TOPMed gnomAD |
|
| rs1458591540 | 1610 | P>T | No |
TOPMed gnomAD |
|
| rs2145512406 | 1611 | P>A | No | Ensembl | |
| rs2059200109 | 1611 | P>H | No | TOPMed | |
| rs2059200109 | 1611 | P>L | No | TOPMed | |
| rs2145512406 | 1611 | P>S | No | Ensembl | |
| rs2145512406 | 1611 | P>T | No | Ensembl | |
| rs2145512419 | 1612 | I>F | No | Ensembl | |
| rs2145512419 | 1612 | I>L | No | Ensembl | |
| rs2145512426 | 1612 | I>N | No | Ensembl | |
| rs2145512426 | 1612 | I>S | No | Ensembl | |
| rs2145512426 | 1612 | I>T | No | Ensembl | |
| rs2145512454 | 1613 | V>A | No | Ensembl | |
| rs2145512454 | 1613 | V>D | No | Ensembl | |
| rs2059200142 | 1613 | V>F | No | TOPMed | |
| rs2145512454 | 1613 | V>G | No | Ensembl | |
| rs2145512475 | 1614 | D>A | No | Ensembl | |
| rs755816596 | 1614 | D>E | No |
ExAC gnomAD |
|
| rs2145512475 | 1614 | D>G | No | Ensembl | |
| rs2145512465 | 1614 | D>H | No | Ensembl | |
| rs2145512465 | 1614 | D>N | No | Ensembl | |
| rs2145512475 | 1614 | D>V | No | Ensembl | |
| rs2145512465 | 1614 | D>Y | No | Ensembl | |
| rs2145512487 | 1615 | P>H | No | Ensembl | |
| rs2145512487 | 1615 | P>L | No | Ensembl | |
| rs2145512487 | 1615 | P>R | No | Ensembl | |
| rs777530816 | 1615 | P>S | No |
1000Genomes ExAC gnomAD |
|
| rs777530816 | 1615 | P>T | No |
1000Genomes ExAC gnomAD |
|
| rs2145512502 | 1616 | D>A | No | Ensembl | |
| rs2145512510 | 1616 | D>E | No | Ensembl | |
| rs2145512498 | 1616 | D>H | No | Ensembl | |
| rs2145512498 | 1616 | D>N | No | Ensembl | |
| rs2145512502 | 1616 | D>V | No | Ensembl | |
| rs2145512498 | 1616 | D>Y | No | Ensembl | |
| rs2145512520 | 1617 | P>H | No | Ensembl | |
| rs2145512520 | 1617 | P>L | No | Ensembl | |
| rs2145512515 | 1617 | P>T | No | Ensembl | |
| rs757100115 | 1618 | L>F | No |
ExAC gnomAD |
|
| rs2145512541 | 1618 | L>H | No | Ensembl | |
| rs2145512541 | 1618 | L>P | No | Ensembl | |
| rs2145512555 | 1619 | I>F | No | Ensembl | |
| rs2145512555 | 1619 | I>L | No | Ensembl | |
| rs1021520881 | 1619 | I>M | No |
TOPMed gnomAD |
|
| rs2054738189 | 1619 | I>N | No |
TOPMed gnomAD |
|
| rs2054738189 | 1619 | I>T | No |
TOPMed gnomAD |
|
| rs2145512555 | 1619 | I>V | No | Ensembl | |
| rs1246489818 | 1620 | P>A | No |
TOPMed gnomAD |
|
| rs2145512581 | 1620 | P>H | No | Ensembl | |
| rs1246489818 | 1620 | P>S | No |
TOPMed gnomAD |
|
| rs1246489818 | 1620 | P>T | No |
TOPMed gnomAD |
|
| rs779048506 | 1621 | C>* | No |
ExAC TOPMed gnomAD |
|
| rs2145512613 | 1621 | C>F | No | Ensembl | |
| rs2145512605 | 1621 | C>R | No | Ensembl | |
| rs2145512605 | 1621 | C>S | No | Ensembl | |
| rs2145512613 | 1621 | C>S | No | Ensembl | |
| rs779048506 | 1621 | C>W | No |
ExAC TOPMed gnomAD |
|
| rs2145512613 | 1621 | C>Y | No | Ensembl | |
| rs2145512644 | 1622 | D>A | No | Ensembl | |
| rs2145512651 | 1622 | D>E | No | Ensembl | |
| rs2145512644 | 1622 | D>G | No | Ensembl | |
| rs745809259 | 1622 | D>H | No |
ExAC gnomAD |
|
|
COSM3424203 rs745809259 |
1622 | D>N | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs2145512644 | 1622 | D>V | No | Ensembl | |
| rs745809259 | 1622 | D>Y | No |
ExAC gnomAD |
|
| rs1246532199 | 1623 | L>V | No | gnomAD | |
| rs2145512668 | 1624 | M>L | No | Ensembl | |
| rs2145512668 | 1624 | M>V | No | Ensembl | |
| rs2145512690 | 1625 | D>G | No | Ensembl | |
| rs2059200335 | 1625 | D>H | No | TOPMed | |
|
COSM1235064 rs2145512690 |
1625 | D>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
| rs2059200335 | 1625 | D>Y | No | TOPMed | |
|
RCV001268073 rs2059200372 |
1626 | G>missing | No |
ClinVar dbSNP |
|
| rs2145512725 | 1626 | G>A | No | Ensembl | |
| rs2145512725 | 1626 | G>D | No | Ensembl | |
| rs2145512710 | 1626 | G>R | No | Ensembl | |
| rs2145512710 | 1626 | G>S | No | Ensembl | |
| rs2145512725 | 1626 | G>V | No | Ensembl | |
| rs2059200406 | 1627 | R>G | No | Ensembl | |
|
rs2145512758 COSM1416487 |
1627 | R>L | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs2145512758 | 1627 | R>P | No | Ensembl | |
|
rs2145512758 COSM363359 |
1627 | R>Q | lung [Cosmic] | No |
cosmic curated Ensembl |
|
COSM88784 rs2059200406 |
1627 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine urinary_tract haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2145512791 | 1628 | D>A | No | Ensembl | |
| rs938606062 | 1628 | D>E | No |
TOPMed gnomAD |
|
| rs2145512791 | 1628 | D>G | No | Ensembl | |
| rs2145512784 | 1628 | D>H | No | Ensembl | |
| rs2145512784 | 1628 | D>N | No | Ensembl | |
| rs2145512791 | 1628 | D>V | No | Ensembl | |
| rs2145512784 | 1628 | D>Y | No | Ensembl | |
| rs2059200421 | 1629 | A>G | No | TOPMed | |
| rs2145512810 | 1629 | A>P | No | Ensembl | |
| rs2145512810 | 1629 | A>T | No | Ensembl | |
|
rs2059200421 COSM187721 |
1629 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
| rs2145512839 | 1630 | F>C | No | Ensembl | |
| rs2145512834 | 1630 | F>I | No | Ensembl | |
| rs2145512834 | 1630 | F>L | No | Ensembl | |
| rs2145512839 | 1630 | F>S | No | Ensembl | |
| rs2145512834 | 1630 | F>V | No | Ensembl | |
| rs2145512839 | 1630 | F>Y | No | Ensembl | |
| rs2059200484 | 1631 | L>F | No | Ensembl | |
| rs2145512856 | 1631 | L>H | No | Ensembl | |
| rs2145512856 | 1631 | L>P | No | Ensembl | |
| rs2059200517 | 1632 | T>M | No | TOPMed | |
| rs2145512875 | 1632 | T>P | No | Ensembl | |
| rs2059200517 | 1632 | T>R | No | TOPMed | |
| rs2145512875 | 1632 | T>S | No | Ensembl | |
| rs2059200561 | 1633 | L>M | No | Ensembl | |
| rs2145512909 | 1633 | L>P | No | Ensembl | |
| rs2059200561 | 1633 | L>V | No | Ensembl | |
| rs1186817795 | 1634 | A>E | No | gnomAD | |
| rs1186817795 | 1634 | A>G | No | gnomAD | |
| rs2145512926 | 1634 | A>P | No | Ensembl | |
| rs2145512926 | 1634 | A>S | No | Ensembl | |
| rs2145512926 | 1634 | A>T | No | Ensembl | |
| rs1186817795 | 1634 | A>V | No | gnomAD | |
| rs2145512963 | 1635 | R>K | No | Ensembl | |
| rs1247485753 | 1635 | R>S | No | gnomAD | |
| rs2145512963 | 1635 | R>T | No | Ensembl | |
| rs2145512986 | 1636 | D>A | No | Ensembl | |
| rs886057562 | 1636 | D>E | No | Ensembl | |
| rs2145512986 | 1636 | D>G | No | Ensembl | |
| rs2145512980 | 1636 | D>H | No | Ensembl | |
| rs2145512980 | 1636 | D>N | No | Ensembl | |
| rs2145512986 | 1636 | D>V | No | Ensembl | |
| rs2145512980 | 1636 | D>Y | No | Ensembl | |
| rs2145513006 | 1637 | K>* | No | Ensembl | |
| rs2145513006 | 1637 | K>E | No | Ensembl | |
| rs2145513020 | 1637 | K>M | No | Ensembl | |
| rs2145513029 | 1637 | K>N | No | Ensembl | |
| rs2145513020 | 1637 | K>R | No | Ensembl | |
| rs2145513020 | 1637 | K>T | No | Ensembl | |
| rs2145513035 | 1638 | H>D | No | Ensembl | |
| rs2145513042 | 1638 | H>L | No | Ensembl | |
| rs2145513035 | 1638 | H>N | No | Ensembl | |
| rs2145513042 | 1638 | H>P | No | Ensembl | |
| rs2145513046 | 1638 | H>Q | No | Ensembl | |
| rs2145513042 | 1638 | H>R | No | Ensembl | |
| rs2145513035 | 1638 | H>Y | No | Ensembl | |
|
COSM305992 rs2145513062 |
1639 | L>P | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
|
rs2145513072 COSM4898642 |
1640 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs765581834 | 1640 | E>D | No |
ExAC gnomAD |
|
| rs2145513078 | 1640 | E>G | No | Ensembl | |
| rs2145513072 | 1640 | E>K | No | Ensembl | |
| rs2145513072 | 1640 | E>Q | No | Ensembl | |
| rs2145513078 | 1640 | E>V | No | Ensembl | |
| rs1883958229 | 1641 | F>C | No | Ensembl | |
|
TCGA novel rs1167185688 |
1641 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
gnomAD NCI-TCGA |
| rs1883958229 | 1641 | F>S | No | Ensembl | |
| rs2145513087 | 1641 | F>V | No | Ensembl | |
| rs1883958229 | 1641 | F>Y | No | Ensembl | |
| rs2145513113 | 1642 | S>C | No | Ensembl | |
|
rs2145513113 COSM224615 |
1642 | S>F | skin [Cosmic] | No |
cosmic curated Ensembl |
| rs2145513105 | 1642 | S>P | No | Ensembl | |
| rs2145513105 | 1642 | S>T | No | Ensembl | |
| rs2145513113 | 1642 | S>Y | No | Ensembl | |
| rs2145513130 | 1643 | S>* | No | Ensembl | |
| rs2145513130 | 1643 | S>L | No | Ensembl | |
| rs2145513128 | 1643 | S>T | No | Ensembl | |
| rs773501564 | 1644 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs1360412888 | 1644 | L>H | No |
TOPMed gnomAD |
|
| rs1360412888 | 1644 | L>P | No |
TOPMed gnomAD |
|
| rs773501564 | 1644 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs139310551 | 1645 | R>G | No | Ensembl | |
| rs2145513170 | 1645 | R>L | No | Ensembl | |
| rs2145513170 | 1645 | R>P | No | Ensembl | |
| TCGA novel | 1645 | R>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2145513170 COSM4856715 |
1645 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2145513187 | 1646 | R>* | No | Ensembl | |
| rs2059200792 | 1646 | R>I | No | TOPMed | |
| rs2059200792 | 1646 | R>K | No | TOPMed | |
| rs2145513206 | 1646 | R>S | No | Ensembl | |
| rs2059200792 | 1646 | R>T | No | TOPMed | |
| rs2145513218 | 1647 | A>D | No | Ensembl | |
| rs2145513218 | 1647 | A>G | No | Ensembl | |
| rs2059200805 | 1647 | A>S | No | Ensembl | |
| rs2145513218 | 1647 | A>V | No | Ensembl | |
| rs2145513234 | 1648 | Q>* | No | Ensembl | |
| rs2145513234 | 1648 | Q>E | No | Ensembl | |
| rs2145513250 | 1648 | Q>H | No | Ensembl | |
| rs2145513234 | 1648 | Q>K | No | Ensembl | |
| rs2145513241 | 1648 | Q>L | No | Ensembl | |
| rs2145513241 | 1648 | Q>R | No | Ensembl | |
| TCGA novel | 1648 | Q>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1466086622 | 1649 | W>* | No | gnomAD | |
| rs2145513263 | 1649 | W>* | No | Ensembl | |
| rs2145513263 | 1649 | W>C | No | Ensembl | |
| rs1466086622 | 1649 | W>L | No | gnomAD | |
| rs1466086622 | 1649 | W>S | No | gnomAD | |
| rs2145513278 | 1650 | S>C | No | Ensembl | |
|
rs2145513278 COSM1416488 |
1650 | S>F | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
|
VAR_014430 COSM96424 rs2145513278 |
1650 | S>Y | pancreas a pancreatic cancer sample [Cosmic, UniProt] | No |
cosmic curated Ensembl UniProt |
| rs1287966635 | 1651 | T>A | No |
TOPMed gnomAD |
|
| rs2145513308 | 1651 | T>N | No | Ensembl | |
| rs2145513308 | 1651 | T>S | No | Ensembl | |
| rs1287966635 | 1651 | T>S | No |
TOPMed gnomAD |
|
| rs752285575 | 1652 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs2047573478 | 1652 | M>K | No |
TOPMed gnomAD |
|
| rs878991820 | 1652 | M>L | No | Ensembl | |
|
rs2047573478 COSM1190460 |
1652 | M>T | lung [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs878991820 | 1652 | M>V | No | Ensembl | |
| rs2145513358 | 1653 | C>* | No | Ensembl | |
| rs1456102763 | 1653 | C>F | No | gnomAD | |
| rs2145513349 | 1653 | C>G | No | Ensembl | |
| rs2145513349 | 1653 | C>R | No | Ensembl | |
| rs2145513349 | 1653 | C>S | No | Ensembl | |
| rs1456102763 | 1653 | C>S | No | gnomAD | |
| rs2145513358 | 1653 | C>W | No | Ensembl | |
| rs1456102763 | 1653 | C>Y | No | gnomAD | |
| rs2145513387 | 1654 | M>I | No | Ensembl | |
| rs2145513383 | 1654 | M>K | No | Ensembl | |
| rs1319384976 | 1654 | M>L | No | gnomAD | |
| rs1319384976 | 1654 | M>V | No | gnomAD | |
| rs1379274191 | 1656 | V>A | No | gnomAD | |
| rs1379274191 | 1656 | V>E | No | gnomAD | |
| rs2145513402 | 1656 | V>L | No | Ensembl | |
| rs2145513402 | 1656 | V>M | No | Ensembl | |
| rs2145513418 | 1657 | E>* | No | Ensembl | |
| rs140500249 | 1657 | E>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145513425 | 1657 | E>G | No | Ensembl | |
| rs2145513418 | 1657 | E>K | No | Ensembl | |
| rs2145513418 | 1657 | E>Q | No | Ensembl | |
| rs2145513425 | 1657 | E>V | No | Ensembl | |
| rs2145513438 | 1658 | L>M | No | Ensembl | |
| rs1310166107 | 1658 | L>P | No | gnomAD | |
| rs1310166107 | 1658 | L>Q | No | gnomAD | |
| rs2145513438 | 1658 | L>V | No | Ensembl | |
| rs2145513462 | 1659 | H>D | No | Ensembl | |
| rs2145513471 | 1659 | H>L | No | Ensembl | |
| rs2145513462 | 1659 | H>N | No | Ensembl | |
| rs2145513471 | 1659 | H>P | No | Ensembl | |
| rs1339471238 | 1659 | H>Q | No | gnomAD | |
| rs2145513471 | 1659 | H>R | No | Ensembl | |
| rs2145513462 | 1659 | H>Y | No | Ensembl | |
| rs2145513491 | 1660 | T>A | No | Ensembl | |
| rs2145513499 | 1660 | T>K | No | Ensembl | |
|
rs2145513499 RCV002222796 |
1660 | T>M | No |
ClinVar Ensembl dbSNP |
|
| rs2145513491 | 1660 | T>P | No | Ensembl | |
| rs2145513499 | 1660 | T>R | No | Ensembl | |
| rs2145513491 | 1660 | T>S | No | Ensembl | |
| rs757181782 | 1661 | Q>* | No |
ExAC gnomAD |
|
| rs757181782 | 1661 | Q>E | No |
ExAC gnomAD |
|
| rs2145513521 | 1661 | Q>H | No | Ensembl | |
| rs757181782 | 1661 | Q>K | No |
ExAC gnomAD |
|
| rs2145513526 | 1662 | S>C | No | Ensembl | |
| rs2145513526 | 1662 | S>G | No | Ensembl | |
| rs2145513533 | 1662 | S>R | No | Ensembl | |
| rs2145513526 | 1662 | S>R | No | Ensembl | |
| rs2145513541 | 1663 | Q>* | No | Ensembl | |
| rs2145513541 | 1663 | Q>E | No | Ensembl | |
| rs2145513555 | 1663 | Q>H | No | Ensembl | |
| rs2145513541 | 1663 | Q>K | No | Ensembl | |
| rs2145513549 | 1663 | Q>L | No | Ensembl | |
| rs2145513549 | 1663 | Q>R | No | Ensembl | |
| rs2145513566 | 1664 | D>A | No | Ensembl | |
| rs2145513572 | 1664 | D>E | No | Ensembl | |
| rs2145513566 | 1664 | D>G | No | Ensembl | |
| rs2145513560 | 1664 | D>H | No | Ensembl | |
| rs2145513560 | 1664 | D>N | No | Ensembl | |
| rs2145513566 | 1664 | D>V | No | Ensembl | |
| rs201883596 | 1665 | R>C | No |
1000Genomes ExAC gnomAD |
|
| rs1601639332 | 1665 | R>P | No | Ensembl | |
| rs2145513597 | 1666 | F>C | No | Ensembl | |
| rs2145513591 | 1666 | F>I | No | Ensembl | |
| rs2145513591 | 1666 | F>L | No | Ensembl | |
| rs2145513601 | 1666 | F>L | No | Ensembl | |
| rs2145513591 | 1666 | F>V | No | Ensembl | |
| rs2145513597 | 1666 | F>Y | No | Ensembl | |
| rs2145513612 | 1667 | V>D | No | Ensembl | |
| rs2059201116 | 1667 | V>I | No | Ensembl | |
| rs1425746701 | 1668 | Y>* | No |
TOPMed gnomAD |
|
| rs2145513639 | 1668 | Y>C | No | Ensembl | |
| rs2145513639 | 1668 | Y>F | No | Ensembl | |
| rs2145513636 | 1668 | Y>H | No | Ensembl | |
| rs2145513636 | 1668 | Y>N | No | Ensembl | |
| rs2145513639 | 1668 | Y>S | No | Ensembl | |
| rs2145513663 | 1669 | T>I | No | Ensembl | |
| rs2145513663 | 1669 | T>N | No | Ensembl | |
| rs2145513658 | 1669 | T>P | No | Ensembl | |
| rs2145513658 | 1669 | T>S | No | Ensembl | |
| rs2145513663 | 1669 | T>S | No | Ensembl | |
| rs2145513690 | 1670 | C>* | No | Ensembl | |
| rs2145513675 | 1670 | C>R | No | Ensembl | |
| rs2145513675 | 1670 | C>S | No | Ensembl | |
| rs2145513681 | 1670 | C>S | No | Ensembl | |
| rs2145513690 | 1670 | C>W | No | Ensembl | |
| rs2145513699 | 1671 | N>D | No | Ensembl | |
| rs2145513705 | 1671 | N>I | No | Ensembl | |
| rs2145513710 | 1671 | N>K | No | Ensembl | |
| rs2145513705 | 1671 | N>S | No | Ensembl | |
| rs2145513699 | 1671 | N>Y | No | Ensembl | |
| COSM1034573 | 1672 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs150000512 | 1672 | E>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2145513717 | 1672 | E>K | No | Ensembl | |
| rs2145513717 | 1672 | E>Q | No | Ensembl | |
| rs2145513722 | 1672 | E>V | No | Ensembl | |
| rs2145513746 | 1673 | C>* | No | Ensembl | |
| rs2145513732 | 1673 | C>G | No | Ensembl | |
| rs2145513732 | 1673 | C>S | No | Ensembl | |
| rs2145513746 | 1673 | C>W | No | Ensembl | |
| rs2145513739 | 1673 | C>Y | No | Ensembl | |
| rs2145513756 | 1674 | K>* | No | Ensembl | |
| rs2145513756 | 1674 | K>E | No | Ensembl | |
| rs2059201201 | 1674 | K>M | No | TOPMed | |
| rs2145513769 | 1674 | K>N | No | Ensembl | |
| rs2059201201 | 1674 | K>R | No | TOPMed | |
| rs2059201201 | 1674 | K>T | No | TOPMed | |
| rs2145513774 | 1675 | H>D | No | Ensembl | |
| rs2145513774 | 1675 | H>N | No | Ensembl | |
| rs779813733 | 1675 | H>Q | No |
ExAC gnomAD |
|
| rs2145513774 | 1675 | H>Y | No | Ensembl | |
| rs2145513788 | 1676 | H>D | No | Ensembl | |
| rs2145513794 | 1676 | H>L | No | Ensembl | |
| rs2145513788 | 1676 | H>N | No | Ensembl | |
| rs747152661 | 1676 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs2145513788 | 1676 | H>Y | No | Ensembl | |
| rs2059201245 | 1677 | V>L | No | Ensembl | |
| rs2059201245 | 1677 | V>M | No | Ensembl | |
| rs2145513831 | 1678 | E>D | No | Ensembl | |
| rs2145513827 | 1678 | E>G | No | Ensembl | |
| rs2145513819 | 1678 | E>K | No | Ensembl | |
| rs2145513819 | 1678 | E>Q | No | Ensembl | |
| rs2145513827 | 1678 | E>V | No | Ensembl | |
| rs2145513841 | 1679 | T>A | No | Ensembl | |
| rs2145513848 | 1679 | T>I | No | Ensembl | |
| rs2145513841 | 1679 | T>P | No | Ensembl | |
| rs2145513848 | 1679 | T>R | No | Ensembl | |
| rs2145513841 | 1679 | T>S | No | Ensembl | |
|
COSM96420 rs1254380600 |
1680 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs1254380600 | 1680 | R>G | No | gnomAD | |
|
COSM1416489 rs748485911 |
1680 | R>H | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs748485911 | 1680 | R>P | No | Ensembl | |
| rs1254380600 | 1680 | R>S | No | gnomAD | |
| rs2145513880 | 1681 | W>* | No | Ensembl | |
| rs2145513891 | 1681 | W>* | No | Ensembl | |
| rs2145513891 | 1681 | W>C | No | Ensembl | |
| rs2145513880 | 1681 | W>L | No | Ensembl | |
| rs2145513880 | 1681 | W>S | No | Ensembl | |
| rs2145513901 | 1682 | H>D | No | Ensembl | |
| rs2145513910 | 1682 | H>L | No | Ensembl | |
| rs2145513901 | 1682 | H>N | No | Ensembl | |
| rs2145513910 | 1682 | H>P | No | Ensembl | |
| rs2145513916 | 1682 | H>Q | No | Ensembl | |
| rs2145513910 | 1682 | H>R | No | Ensembl | |
| rs2145513901 | 1682 | H>Y | No | Ensembl | |
| rs2145513935 | 1683 | C>* | No | Ensembl | |
|
RCV002274337 rs2145513922 |
1683 | C>R | No |
ClinVar Ensembl dbSNP |
|
| rs2145513922 | 1683 | C>S | No | Ensembl | |
| rs2145513929 | 1683 | C>S | No | Ensembl | |
| rs2145513935 | 1683 | C>W | No | Ensembl | |
| rs2145513929 | 1683 | C>Y | No | Ensembl | |
| rs2145513939 | 1684 | T>A | No | Ensembl | |
| rs2145513948 | 1684 | T>I | No | Ensembl | |
| rs2145513939 | 1684 | T>P | No | Ensembl | |
| rs2145513939 | 1684 | T>S | No | Ensembl | |
| rs2145513948 | 1684 | T>S | No | Ensembl | |
| rs748374833 | 1685 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs748374833 | 1685 | V>D | No |
ExAC TOPMed gnomAD |
|
| rs748374833 | 1685 | V>G | No |
ExAC TOPMed gnomAD |
|
| rs2145513962 | 1685 | V>I | No | Ensembl | |
| rs2145513962 | 1685 | V>L | No | Ensembl | |
| rs2145513993 | 1686 | C>* | No | Ensembl | |
| rs2145513985 | 1686 | C>F | No | Ensembl | |
| rs2145513981 | 1686 | C>R | No | Ensembl | |
| rs2145513981 | 1686 | C>S | No | Ensembl | |
| rs2145513985 | 1686 | C>S | No | Ensembl | |
| rs2145513993 | 1686 | C>W | No | Ensembl | |
| rs2145513985 | 1686 | C>Y | No | Ensembl | |
| rs2145514015 | 1687 | E>D | No | Ensembl | |
| rs2145514007 | 1687 | E>G | No | Ensembl | |
| rs2145514002 | 1687 | E>K | No | Ensembl | |
| rs2145514002 | 1687 | E>Q | No | Ensembl | |
| rs2145514007 | 1687 | E>V | No | Ensembl | |
| rs1322495375 | 1689 | Y>C | No | Ensembl | |
|
TCGA novel rs190025023 |
1690 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA 1000Genomes ExAC TOPMed gnomAD |
| rs2145514797 | 1690 | D>H | No | Ensembl | |
|
RCV000522722 CA411708045 rs1555912107 |
1692 | C>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA411708044 rs1555912107 RCV000521831 |
1692 | C>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs202062917 | 1693 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1423610065 | 1695 | C>* | No | TOPMed | |
| rs2145514827 | 1695 | C>Y | No | Ensembl | |
|
RCV001824482 rs549834848 |
1698 | T>A | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1351412281 | 1698 | T>I | No | gnomAD | |
|
RCV001092853 rs2059203421 |
1699 | K>E | No |
ClinVar Ensembl dbSNP |
|
| rs1292894731 | 1700 | N>K | No | gnomAD | |
| rs1433963913 | 1700 | N>T | No | gnomAD | |
| rs2145514885 | 1702 | D>E | No | Ensembl | |
| rs2145514883 | 1702 | D>H | No | Ensembl | |
|
RCV001756810 rs2145514891 |
1704 | K>E | No |
ClinVar Ensembl dbSNP |
|
| rs2145514891 | 1704 | K>Q | No | Ensembl | |
| rs2059203471 | 1704 | K>R | No | TOPMed | |
| rs1266804484 | 1706 | E>D | No | TOPMed | |
| rs2145514908 | 1707 | K>I | No | Ensembl | |
| TCGA novel | 1709 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs778118211 | 1709 | G>V | No |
ExAC gnomAD |
|
| rs2145514942 | 1711 | G>A | No | Ensembl | |
| rs2145514966 | 1713 | D>Y | No | Ensembl | |
| rs2145514983 | 1714 | D>N | No | Ensembl | |
| rs2145514986 | 1715 | E>V | No | Ensembl | |
| rs147676363 | 1716 | S>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2059203650 | 1716 | S>R | No |
TOPMed gnomAD |
|
|
RCV001837149 rs779154669 |
1717 | N>S | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2145515026 | 1718 | N>K | No | Ensembl | |
| rs1323901624 | 1718 | N>S | No | gnomAD | |
| COSM4849197 | 1719 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2145515035 | 1720 | Q>* | No | Ensembl | |
| rs1295866662 | 1721 | A>P | No |
TOPMed gnomAD |
|
| rs1295866662 | 1721 | A>T | No |
TOPMed gnomAD |
|
| rs1601639695 | 1722 | A>P | No | Ensembl | |
| rs1601639695 | 1722 | A>T | No | Ensembl | |
| rs2145515056 | 1722 | A>V | No | Ensembl | |
| rs370154248 | 1723 | A>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145515060 | 1723 | A>P | No | Ensembl | |
| rs2145515060 | 1723 | A>T | No | Ensembl | |
| rs370154248 | 1723 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs775304566 | 1724 | T>I | No |
ExAC gnomAD |
|
| rs1601639715 | 1724 | T>P | No | Ensembl | |
| rs2059203871 | 1726 | S>R | No | Ensembl | |
| rs886057564 | 1727 | P>S | No |
TOPMed gnomAD |
|
| rs931364072 | 1728 | G>S | No |
TOPMed gnomAD |
|
| rs2145515111 | 1729 | D>E | No | Ensembl | |
| rs1182102504 | 1729 | D>N | No | gnomAD | |
|
COSM320129 rs2145515118 |
1730 | S>F | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs2059203971 | 1731 | R>C | No | TOPMed | |
| rs2059203984 | 1731 | R>H | No | Ensembl | |
| rs2059203984 | 1731 | R>L | No | Ensembl | |
| rs2059203984 | 1731 | R>P | No | Ensembl | |
| rs2145515142 | 1732 | R>C | No | Ensembl | |
|
COSM1177798 rs772712660 |
1732 | R>H | endometrium [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs772712660 | 1732 | R>P | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1733 | L>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs762527097 | 1733 | L>M | No |
ExAC TOPMed gnomAD |
|
| rs2145515165 | 1733 | L>P | No | Ensembl | |
| TCGA novel | 1735 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145515176 | 1736 | Q>* | No | Ensembl | |
|
COSM4104437 rs2145515182 |
1737 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs1389352663 | 1737 | R>H | No | gnomAD | |
| rs1389352663 | 1737 | R>P | No | gnomAD | |
| rs1458740271 | 1738 | C>Y | No | gnomAD | |
|
COSM1308209 rs2059204141 |
1739 | I>M | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
| TCGA novel | 1742 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145515231 | 1745 | A>T | No | Ensembl | |
|
rs2145515233 TCGA novel |
1746 | C>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs1285033196 | 1746 | C>W | No |
TOPMed gnomAD |
|
| rs759298489 | 1749 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2145515270 | 1751 | A>T | No | Ensembl | |
| rs2145515274 | 1751 | A>V | No | Ensembl | |
| rs2145515290 | 1753 | C>S | No | Ensembl | |
| TCGA novel | 1753 | C>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145515294 | 1753 | C>Y | No | Ensembl | |
| TCGA novel | 1754 | S>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145515302 | 1754 | S>P | No | Ensembl | |
| rs1358517771 | 1756 | P>S | No | gnomAD | |
| rs1358517771 | 1756 | P>T | No | gnomAD | |
| rs2145515345 | 1758 | C>* | No | Ensembl | |
| rs2145515345 | 1758 | C>W | No | Ensembl | |
| rs2145515339 | 1758 | C>Y | No | Ensembl | |
| rs2145515351 | 1759 | Q>E | No | Ensembl | |
| rs2059204415 | 1759 | Q>H | No | Ensembl | |
| rs2145515351 | 1759 | Q>K | No | Ensembl | |
| COSM478998 | 1760 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2145515365 | 1761 | M>K | No | Ensembl | |
| TCGA novel | 1761 | M>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2059204444 | 1762 | K>T | No | gnomAD | |
| rs2145515376 | 1763 | R>Q | No | Ensembl | |
| rs1266719702 | 1763 | R>W | No | gnomAD | |
| rs2145515389 | 1764 | V>D | No | Ensembl | |
| TCGA novel | 1764 | V>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145515384 | 1764 | V>I | No | Ensembl | |
| rs2145515394 | 1766 | Q>* | No | Ensembl | |
| rs2059204487 | 1766 | Q>L | No | Ensembl | |
| rs2145515405 | 1767 | H>Y | No | Ensembl | |
| rs1043874095 | 1769 | K>N | No | Ensembl | |
| rs2059204519 | 1769 | K>R | No |
TOPMed gnomAD |
|
| rs2145515423 | 1770 | G>D | No | Ensembl | |
| rs1187590603 | 1771 | C>* | No | gnomAD | |
| rs2145515436 | 1771 | C>Y | No | Ensembl | |
| rs2145515453 | 1773 | R>Q | No | Ensembl | |
| rs1238889159 | 1773 | R>W | No | gnomAD | |
| rs2145515463 | 1775 | T>N | No | Ensembl | |
| rs2145515472 | 1776 | N>K | No | Ensembl | |
| rs1471595114 | 1776 | N>S | No | gnomAD | |
| rs2145515500 | 1778 | G>A | No | Ensembl | |
| rs2145515500 | 1778 | G>E | No | Ensembl | |
| rs2059204658 | 1778 | G>R | No | TOPMed | |
|
rs779153578 COSM4156325 |
1779 | C>G | thyroid [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs779153578 | 1779 | C>R | No |
ExAC gnomAD |
|
| rs779153578 | 1779 | C>S | No |
ExAC gnomAD |
|
| rs746272811 | 1779 | C>W | No |
ExAC gnomAD |
|
| rs2145515516 | 1779 | C>Y | No | Ensembl | |
| rs2145515529 | 1780 | P>L | No | Ensembl | |
| rs2145515529 | 1780 | P>R | No | Ensembl | |
| rs758812559 | 1780 | P>T | No |
ExAC gnomAD |
|
| rs1400234265 | 1781 | I>L | No | gnomAD | |
| rs1334893388 | 1781 | I>M | No | gnomAD | |
| rs2145515549 | 1782 | C>Y | No | Ensembl | |
| rs2145515559 | 1783 | K>N | No | Ensembl | |
| TCGA novel | 1784 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1785 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145515576 | 1786 | I>F | No | Ensembl | |
| rs2145515592 | 1787 | A>G | No | Ensembl | |
| rs2145515585 | 1787 | A>T | No | Ensembl | |
| rs2145515592 | 1787 | A>V | No | Ensembl | |
| rs2145515600 | 1788 | L>V | No | Ensembl | |
| COSM145369 | 1790 | C>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2145515614 | 1790 | C>S | No | Ensembl | |
|
rs2145515633 TCGA novel |
1791 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs1248713252 | 1791 | Y>F | No | TOPMed | |
| rs2145515637 | 1792 | H>Y | No | Ensembl | |
| rs2145515649 | 1793 | A>T | No | Ensembl | |
| rs2059204888 | 1794 | K>R | No | TOPMed | |
| rs2145515673 | 1795 | H>L | No | Ensembl | |
| rs2145515673 | 1795 | H>P | No | Ensembl | |
| rs2145515669 | 1795 | H>Y | No | Ensembl | |
| rs748793403 | 1796 | C>* | No |
ExAC gnomAD |
|
| rs2145515680 | 1796 | C>Y | No | Ensembl | |
| rs770531865 | 1797 | Q>P | No |
ExAC gnomAD |
|
| rs770531865 | 1797 | Q>R | No |
ExAC gnomAD |
|
| rs2145515714 | 1801 | C>G | No | Ensembl | |
| TCGA novel | 1801 | C>M | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1457168691 | 1802 | P>A | No | TOPMed | |
| rs1200588584 | 1802 | P>L | No |
TOPMed gnomAD |
|
| rs1200588584 | 1802 | P>R | No |
TOPMed gnomAD |
|
| rs2145515741 | 1803 | V>L | No | Ensembl | |
| rs2145515741 | 1803 | V>M | No | Ensembl | |
| rs371065099 | 1804 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145515747 | 1804 | P>S | No | Ensembl | |
| rs2145515747 | 1804 | P>T | No | Ensembl | |
| rs2145515778 | 1806 | C>* | No | Ensembl | |
| rs2145515778 | 1806 | C>W | No | Ensembl | |
| rs2145515772 | 1806 | C>Y | No | Ensembl | |
| rs2145515797 | 1807 | L>Q | No | Ensembl | |
| rs2145515814 | 1809 | I>T | No | Ensembl | |
| rs2059205179 | 1810 | K>R | No | TOPMed | |
| rs2145515856 | 1811 | Q>H | No | Ensembl | |
| rs2145515847 | 1811 | Q>K | No | Ensembl | |
| rs2145515861 | 1812 | K>M | No | Ensembl | |
| rs2145515870 | 1813 | L>F | No | Ensembl | |
| rs2145515870 | 1813 | L>I | No | Ensembl | |
| rs1601639901 | 1813 | L>P | No | Ensembl | |
| rs765425263 | 1814 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs765425263 | 1814 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
rs757325753 RCV001572211 |
1814 | R>W | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1432882937 | 1815 | Q>* | No | gnomAD | |
| rs1432882937 | 1815 | Q>K | No | gnomAD | |
| rs2145515926 | 1816 | Q>* | No | Ensembl | |
| rs2145515934 | 1817 | Q>H | No | Ensembl | |
| rs2145515941 | 1818 | L>M | No | Ensembl | |
| rs2145515953 | 1819 | Q>* | No | Ensembl | |
| rs2086786386 | 1820 | H>Q | No | TOPMed | |
| COSM4104438 | 1820 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1371356088 | 1820 | H>Y | No | gnomAD | |
| rs747329417 | 1821 | R>P | No |
ExAC gnomAD |
|
| rs747329417 | 1821 | R>Q | No |
ExAC gnomAD |
|
| rs2059205398 | 1822 | L>Q | No | TOPMed | |
| rs2145516000 | 1824 | Q>* | No | Ensembl | |
| rs2145516016 | 1824 | Q>H | No | Ensembl | |
| rs2145516000 | 1824 | Q>K | No | Ensembl | |
| rs2145516019 | 1825 | A>D | No | Ensembl | |
| rs2145516019 | 1825 | A>V | No | Ensembl | |
| rs2145516031 | 1826 | Q>* | No | Ensembl | |
|
RCV002214260 rs2145516037 |
1826 | Q>P | No |
ClinVar Ensembl dbSNP |
|
| rs2145516056 | 1827 | M>I | No | Ensembl | |
| rs2145516050 | 1827 | M>K | No | Ensembl | |
| rs2145516043 | 1827 | M>L | No | Ensembl | |
| COSM3554892 | 1828 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1057518002 CA16043185 RCV000414170 |
1828 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs2145516075 RCV001816327 COSM1416492 |
1829 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine prostate [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP |
| rs2145516079 | 1829 | R>H | No | Ensembl | |
| COSM3783562 | 1830 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1601639958 | 1831 | R>K | No | Ensembl | |
| rs2145516105 | 1832 | M>K | No | Ensembl | |
| rs2145516114 | 1833 | A>D | No | Ensembl | |
| rs2145516111 | 1833 | A>T | No | Ensembl | |
| rs2145516114 | 1833 | A>V | No | Ensembl | |
| rs2145516123 | 1834 | S>N | No | Ensembl | |
| rs2145516137 | 1835 | M>I | No | Ensembl | |
| rs2145516133 | 1835 | M>L | No | Ensembl | |
|
TCGA novel rs2145516140 |
1836 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs199725323 | 1836 | Q>H | No |
TOPMed gnomAD |
|
| rs1439243688 | 1837 | R>G | No |
TOPMed gnomAD |
|
| rs755471385 | 1837 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs755471385 | 1837 | R>P | No |
ExAC TOPMed gnomAD |
|
|
rs755471385 RCV001822601 |
1837 | R>Q | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV001761102 rs1439243688 |
1837 | R>W | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs2145516170 | 1838 | T>A | No | Ensembl | |
| rs2059205609 | 1838 | T>I | No | gnomAD | |
| rs2059205609 | 1838 | T>S | No | gnomAD | |
| rs1569120925 | 1839 | G>D | No | Ensembl | |
| rs2059205635 | 1839 | G>S | No | Ensembl | |
| rs2059205716 | 1840 | V>A | No | Ensembl | |
| rs2145516211 | 1840 | V>M | No | Ensembl | |
| rs1443665462 | 1841 | V>A | No |
TOPMed gnomAD |
|
| rs1274954980 | 1842 | G>A | No | gnomAD | |
| rs1232872137 | 1842 | G>R | No | gnomAD | |
| rs1232872137 | 1842 | G>W | No | gnomAD | |
| rs2145516257 | 1843 | Q>* | No | Ensembl | |
| COSM3842764 | 1843 | Q>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2145516268 | 1844 | Q>E | No | Ensembl | |
| rs1483819669 | 1844 | Q>H | No |
TOPMed gnomAD |
|
| rs2145516281 | 1845 | Q>* | No | Ensembl | |
| rs961948567 | 1845 | Q>H | No |
TOPMed gnomAD |
|
| rs2145516285 | 1845 | Q>R | No | Ensembl | |
| rs2145516293 | 1846 | G>A | No | Ensembl | |
| rs1354041913 | 1847 | L>F | No | TOPMed | |
| rs770464817 | 1847 | L>P | No | ExAC | |
| rs972384890 | 1848 | P>H | No | gnomAD | |
| rs972384890 | 1848 | P>L | No | gnomAD | |
| rs1200933754 | 1849 | S>F | No | gnomAD | |
| rs199544223 | 1849 | S>P | No |
ExAC gnomAD |
|
|
rs2145516343 RCV002267372 |
1850 | P>R | No |
ClinVar Ensembl dbSNP |
|
| rs199771020 | 1851 | T>A | No |
ExAC TOPMed gnomAD |
|
|
RCV000120719 CA158510 rs587778257 |
1851 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs199771020 | 1851 | T>P | No |
ExAC TOPMed gnomAD |
|
| rs199771020 | 1851 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs2145516390 | 1852 | P>A | No | Ensembl | |
| rs2059206073 | 1852 | P>L | No |
TOPMed gnomAD |
|
| rs2145516390 | 1852 | P>T | No | Ensembl | |
| rs922820001 | 1853 | A>D | No | Ensembl | |
| rs922820001 | 1853 | A>G | No | Ensembl | |
| rs922820001 | 1853 | A>V | No | Ensembl | |
| rs2059206124 | 1854 | T>A | No | gnomAD | |
| rs2145516427 | 1854 | T>I | No | Ensembl | |
| rs2145516427 | 1854 | T>N | No | Ensembl | |
| rs201644988 | 1855 | P>L | No | TOPMed | |
| rs1166589601 | 1856 | T>A | No | gnomAD | |
| rs373942196 | 1856 | T>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs373942196 | 1856 | T>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145516478 | 1857 | T>I | No | Ensembl | |
|
CA221694 rs398123610 RCV000079680 |
1858 | P>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2145516500 | 1858 | P>L | No | Ensembl | |
| rs398123610 | 1858 | P>T | No | Ensembl | |
| rs1326145389 | 1859 | T>I | No | gnomAD | |
| rs1326145389 | 1859 | T>N | No | gnomAD | |
|
rs1085307564 CA645294126 RCV000489152 |
1860 | G>missing | No |
ClinGen ClinVar dbSNP |
|
| rs765402877 | 1860 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs765402877 | 1860 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs2059206293 | 1860 | G>S | No |
TOPMed gnomAD |
|
| rs2145516543 | 1861 | Q>K | No | Ensembl | |
| rs750460918 | 1861 | Q>L | No |
ExAC gnomAD |
|
| rs750460918 | 1861 | Q>P | No |
ExAC gnomAD |
|
| rs750460918 | 1861 | Q>R | No |
ExAC gnomAD |
|
| rs2145516559 | 1862 | Q>* | No | Ensembl | |
|
rs2145516559 RCV001754445 |
1862 | Q>E | No |
ClinVar Ensembl dbSNP |
|
| rs2145516567 | 1862 | Q>H | No | Ensembl | |
|
COSM1238789 rs1297677732 |
1863 | P>S | oesophagus [Cosmic] | No |
cosmic curated gnomAD |
| rs1297677732 | 1863 | P>T | No | gnomAD | |
| rs2145516590 | 1864 | T>I | No | Ensembl | |
| rs2145516590 | 1864 | T>N | No | Ensembl | |
| rs2145516584 | 1864 | T>S | No | Ensembl | |
| rs1601640115 | 1865 | T>P | No | Ensembl | |
| rs763290593 | 1866 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs763290593 | 1866 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs763290593 | 1866 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs2145516634 | 1867 | Q>* | No | Ensembl | |
| rs1250353355 | 1867 | Q>H | No |
TOPMed gnomAD |
|
| rs2145516638 | 1867 | Q>R | No | Ensembl | |
| rs781609478 | 1868 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs755349993 | 1868 | T>P | No |
ExAC TOPMed gnomAD |
|
| rs755349993 | 1868 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs1178696144 | 1869 | P>R | No | gnomAD | |
| rs2059206569 | 1869 | P>S | No | Ensembl | |
| rs2059206569 | 1869 | P>T | No | Ensembl | |
| rs2145516720 | 1870 | Q>H | No | Ensembl | |
| rs2059206625 | 1871 | P>R | No | TOPMed | |
| rs2145516730 | 1871 | P>S | No | Ensembl | |
| rs2145516730 | 1871 | P>T | No | Ensembl | |
| rs2145516745 | 1872 | T>S | No | Ensembl | |
| rs2145516759 | 1872 | T>S | No | Ensembl | |
|
rs1555912169 RCV001771098 |
1873 | S>missing | No |
ClinVar dbSNP |
|
| rs756515164 | 1873 | S>F | No |
ExAC gnomAD |
|
| rs2145516779 | 1874 | Q>* | No | Ensembl | |
| rs2145516791 | 1874 | Q>H | No | Ensembl | |
| rs2059206716 | 1874 | Q>L | No | TOPMed | |
| rs2059206716 | 1874 | Q>R | No | TOPMed | |
| rs564190922 | 1875 | P>L | No |
1000Genomes ExAC gnomAD |
|
| rs200149159 | 1875 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs200149159 | 1875 | P>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2145516833 | 1876 | Q>H | No | Ensembl | |
| rs2145516827 | 1876 | Q>R | No | Ensembl | |
| rs779646635 | 1877 | P>A | No |
ExAC gnomAD |
|
| rs1458770443 | 1877 | P>H | No |
TOPMed gnomAD |
|
|
rs1458770443 COSM3554893 |
1877 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
| rs1458770443 | 1877 | P>R | No |
TOPMed gnomAD |
|
| rs779646635 | 1877 | P>S | No |
ExAC gnomAD |
|
| rs746826181 | 1878 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs1484157418 | 1878 | T>I | No |
TOPMed gnomAD |
|
|
RCV002248121 COSM727026 rs1484157418 |
1878 | T>N | lung [Cosmic] | No |
cosmic curated ClinVar TOPMed dbSNP gnomAD |
| rs746826181 | 1878 | T>P | No |
ExAC TOPMed gnomAD |
|
| rs746826181 | 1878 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs141530780 | 1879 | P>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs141530780 | 1879 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145516873 | 1879 | P>S | No | Ensembl | |
| rs2145516873 | 1879 | P>T | No | Ensembl | |
| rs2145516886 | 1880 | P>H | No | Ensembl | |
| rs2145516886 | 1880 | P>L | No | Ensembl | |
| rs2145516886 | 1880 | P>R | No | Ensembl | |
| rs761815222 | 1881 | N>I | No |
ExAC gnomAD |
|
| rs2145516905 | 1881 | N>K | No | Ensembl | |
| rs761815222 | 1881 | N>S | No |
ExAC gnomAD |
|
| rs773457115 | 1882 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs1320303195 | 1883 | M>V | No | TOPMed | |
| rs1014165112 | 1884 | P>A | No | TOPMed | |
| rs1340670077 | 1884 | P>L | No |
TOPMed gnomAD |
|
| rs1014165112 | 1884 | P>S | No | TOPMed | |
| rs1014165112 | 1884 | P>T | No | TOPMed | |
| rs2145516958 | 1885 | P>A | No | Ensembl | |
| rs763093656 | 1885 | P>L | No |
ExAC gnomAD |
|
| rs1334155887 | 1886 | Y>D | No | gnomAD | |
| rs1209285898 | 1886 | Y>S | No | gnomAD | |
| rs766755825 | 1888 | P>R | No |
ExAC gnomAD |
|
| rs751791250 | 1889 | R>G | No |
ExAC gnomAD |
|
| rs759882424 | 1889 | R>K | No |
ExAC gnomAD |
|
| rs1312367245 | 1889 | R>S | No |
TOPMed gnomAD |
|
| rs759882424 | 1889 | R>T | No |
ExAC gnomAD |
|
| rs767925282 | 1890 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs146165770 | 1890 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs2145517044 RCV002244503 |
1891 | Q>E | No |
ClinVar Ensembl dbSNP |
|
| rs2145517047 | 1891 | Q>H | No | Ensembl | |
| rs1416149846 | 1892 | A>D | No | gnomAD | |
| rs778217143 | 1892 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs778217143 | 1892 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1416149846 | 1892 | A>V | No | gnomAD | |
| rs2145517066 | 1893 | A>T | No | Ensembl | |
| rs2145517071 | 1893 | A>V | No | Ensembl | |
| rs2145517076 | 1894 | G>C | No | Ensembl | |
| rs2145517076 | 1894 | G>R | No | Ensembl | |
| rs2145517076 | 1894 | G>S | No | Ensembl | |
| rs2145517098 | 1895 | P>L | No | Ensembl | |
| rs749979249 | 1895 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs2145517111 | 1896 | V>A | No | Ensembl | |
| rs2145517111 | 1896 | V>G | No | Ensembl | |
| rs779633140 | 1896 | V>M | No |
ExAC gnomAD |
|
| rs1361207000 | 1897 | S>C | No |
TOPMed gnomAD |
|
| rs1361207000 | 1897 | S>F | No |
TOPMed gnomAD |
|
| rs2059207391 | 1898 | Q>* | No | Ensembl | |
| rs1397417369 | 1898 | Q>H | No |
TOPMed gnomAD |
|
| rs2059207391 | 1898 | Q>K | No | Ensembl | |
| rs781054865 | 1898 | Q>L | No |
ExAC gnomAD |
|
| rs781054865 | 1898 | Q>R | No |
ExAC gnomAD |
|
| rs1456530371 | 1899 | G>A | No |
TOPMed gnomAD |
|
| rs1456530371 | 1899 | G>D | No |
TOPMed gnomAD |
|
| rs1300307107 | 1899 | G>R | No |
TOPMed gnomAD |
|
| rs1300307107 | 1899 | G>S | No |
TOPMed gnomAD |
|
| rs1456530371 | 1899 | G>V | No |
TOPMed gnomAD |
|
| rs2145517160 | 1900 | K>* | No | Ensembl | |
| rs2145517165 | 1900 | K>M | No | Ensembl | |
| rs2145517165 | 1900 | K>R | No | Ensembl | |
| rs2059207460 | 1901 | A>E | No | gnomAD | |
| rs2059207460 | 1901 | A>G | No | gnomAD | |
| rs2145517179 | 1901 | A>P | No | Ensembl | |
| rs2145517179 | 1901 | A>S | No | Ensembl | |
| rs2145517179 | 1901 | A>T | No | Ensembl | |
| rs2145517206 | 1902 | A>G | No | Ensembl | |
| rs2145517202 | 1902 | A>T | No | Ensembl | |
| rs2145517206 | 1902 | A>V | No | Ensembl | |
| rs2145517218 | 1903 | G>A | No | Ensembl | |
| rs747857690 | 1903 | G>C | No |
ExAC gnomAD |
|
| rs2145517218 | 1903 | G>D | No | Ensembl | |
| rs747857690 | 1903 | G>S | No |
ExAC gnomAD |
|
|
rs2145517232 COSM1566441 |
1904 | Q>* | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs2145517232 | 1904 | Q>E | No | Ensembl | |
| rs2145517258 | 1904 | Q>H | No | Ensembl | |
| rs2145517232 | 1904 | Q>K | No | Ensembl | |
| rs140187237 | 1904 | Q>L | No |
ExAC TOPMed gnomAD |
|
| rs140187237 | 1904 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs2145517269 | 1905 | V>E | No | Ensembl | |
| rs2145517269 | 1905 | V>G | No | Ensembl | |
| rs2059207559 | 1905 | V>L | No | Ensembl | |
| rs2059207559 | 1905 | V>M | No | Ensembl | |
| rs2145517275 | 1906 | T>A | No | Ensembl | |
| rs749435586 | 1906 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs749435586 | 1906 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs2145517275 | 1906 | T>P | No | Ensembl | |
| rs2145517275 | 1906 | T>S | No | Ensembl | |
| rs749435586 | 1906 | T>S | No |
ExAC TOPMed gnomAD |
|
|
rs1601640325 RCV001008524 |
1907 | P>missing | No |
ClinVar dbSNP |
|
| rs1034013330 | 1907 | P>S | No |
TOPMed gnomAD |
|
| rs1315029784 | 1908 | P>A | No | gnomAD | |
| rs1284977519 | 1908 | P>L | No | gnomAD | |
| rs1315029784 | 1908 | P>S | No | gnomAD | |
| rs1315029784 | 1908 | P>T | No | gnomAD | |
| rs201791719 | 1909 | T>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs759814127 | 1909 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs759814127 | 1909 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs201791719 | 1909 | T>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs201791719 | 1909 | T>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs759814127 | 1909 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs2145517358 | 1910 | P>A | No | Ensembl | |
| rs2059207843 | 1910 | P>H | No | TOPMed | |
| rs2059207843 | 1910 | P>L | No | TOPMed | |
| rs2145517358 | 1910 | P>S | No | Ensembl | |
| rs2145517358 | 1910 | P>T | No | Ensembl | |
| rs764637829 | 1911 | P>H | No |
ExAC gnomAD |
|
| rs764637829 | 1911 | P>L | No |
ExAC gnomAD |
|
| rs761000930 | 1911 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs2145517396 | 1912 | Q>* | No | Ensembl | |
| rs2145517404 | 1912 | Q>H | No | Ensembl | |
| rs1189099611 | 1912 | Q>P | No | Ensembl | |
| rs1189099611 | 1912 | Q>R | No | Ensembl | |
| rs955248478 | 1913 | T>A | No |
TOPMed gnomAD |
|
| rs955248478 | 1913 | T>P | No |
TOPMed gnomAD |
|
| rs1485568560 | 1914 | A>P | No | gnomAD | |
| rs1485568560 | 1914 | A>T | No | gnomAD | |
| rs1183312131 | 1914 | A>V | No | gnomAD | |
| rs2145517447 | 1915 | Q>* | No | Ensembl | |
| rs2145517458 | 1915 | Q>H | No | Ensembl | |
| rs2145517453 | 1915 | Q>L | No | Ensembl | |
| rs2145517453 | 1915 | Q>R | No | Ensembl | |
| rs2145517464 | 1916 | P>A | No | Ensembl | |
| rs2145517477 | 1916 | P>L | No | Ensembl | |
| rs2145517477 | 1916 | P>Q | No | Ensembl | |
| rs2145517464 | 1916 | P>S | No | Ensembl | |
| rs754332975 | 1917 | P>A | No |
ExAC gnomAD |
|
| rs962200420 | 1917 | P>L | No |
TOPMed gnomAD |
|
| rs962200420 | 1917 | P>R | No |
TOPMed gnomAD |
|
| rs754332975 | 1917 | P>S | No |
ExAC gnomAD |
|
| rs1377707314 | 1918 | L>F | No | gnomAD | |
| rs2145517515 | 1918 | L>H | No | Ensembl | |
| rs1377707314 | 1918 | L>I | No | gnomAD | |
| rs2145517515 | 1918 | L>P | No | Ensembl | |
| rs2145517525 | 1919 | P>A | No | Ensembl | |
| rs2145517532 | 1919 | P>L | No | Ensembl | |
| rs2145517525 | 1919 | P>S | No | Ensembl | |
| rs985714434 | 1920 | G>A | No | Ensembl | |
| rs985714434 | 1920 | G>E | No | Ensembl | |
| rs2145517547 | 1920 | G>R | No | Ensembl | |
| rs985714434 | 1920 | G>V | No | Ensembl | |
| rs2145517547 | 1920 | G>W | No | Ensembl | |
| rs2145517564 | 1921 | P>A | No | Ensembl | |
| rs2145517574 | 1921 | P>H | No | Ensembl | |
| rs2145517564 | 1921 | P>S | No | Ensembl | |
| rs2145517564 | 1921 | P>T | No | Ensembl | |
| TCGA novel | 1922 | P>H | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145517590 | 1922 | P>L | No | Ensembl | |
| rs2145517590 | 1922 | P>Q | No | Ensembl | |
| rs1310722628 | 1922 | P>S | No | gnomAD | |
| rs911494106 | 1923 | P>A | No | Ensembl | |
| rs2145517613 | 1923 | P>L | No | Ensembl | |
| rs911494106 | 1923 | P>S | No | Ensembl | |
| rs2145517632 | 1924 | A>E | No | Ensembl | |
| rs1374440979 | 1924 | A>P | No | gnomAD | |
| rs1374440979 | 1924 | A>S | No | gnomAD | |
| rs1374440979 | 1924 | A>T | No | gnomAD | |
| rs2145517632 | 1924 | A>V | No | Ensembl | |
| rs2145517642 | 1925 | A>G | No | Ensembl | |
| rs2145517637 | 1925 | A>P | No | Ensembl | |
| rs2145517637 | 1925 | A>T | No | Ensembl | |
| rs2145517642 | 1925 | A>V | No | Ensembl | |
| rs2145517657 | 1926 | V>L | No | Ensembl | |
| rs2145517657 | 1926 | V>M | No | Ensembl | |
| rs2145517671 | 1927 | E>K | No | Ensembl | |
| rs2145517671 | 1927 | E>Q | No | Ensembl | |
| rs2145517678 | 1927 | E>V | No | Ensembl | |
| rs376626285 | 1928 | M>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145517682 | 1928 | M>R | No | Ensembl | |
| rs2145517694 | 1929 | A>E | No | Ensembl | |
| rs2145517694 | 1929 | A>G | No | Ensembl | |
| rs2145517687 | 1929 | A>P | No | Ensembl | |
| rs2145517687 | 1929 | A>S | No | Ensembl | |
| rs2145517687 | 1929 | A>T | No | Ensembl | |
| rs2145517694 | 1929 | A>V | No | Ensembl | |
| rs1371176366 | 1930 | M>I | No | gnomAD | |
| rs2145517715 | 1930 | M>K | No | Ensembl | |
| rs754682486 | 1930 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs2145517715 | 1930 | M>R | No | Ensembl | |
| rs754682486 | 1930 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs2145517729 | 1931 | Q>* | No | Ensembl | |
| rs2145517729 | 1931 | Q>E | No | Ensembl | |
| rs2059208172 | 1931 | Q>H | No | Ensembl | |
| rs2145517729 | 1931 | Q>K | No | Ensembl | |
| rs2145517737 | 1931 | Q>L | No | Ensembl | |
| rs2145517737 | 1931 | Q>R | No | Ensembl | |
| rs2145517748 | 1932 | I>N | No | Ensembl | |
| rs2145517748 | 1932 | I>S | No | Ensembl | |
| rs2145517758 | 1933 | Q>* | No | Ensembl | |
| rs2145517758 | 1933 | Q>E | No | Ensembl | |
| rs2145517777 | 1933 | Q>H | No | Ensembl | |
| rs2145517758 | 1933 | Q>K | No | Ensembl | |
| rs2145517767 | 1933 | Q>L | No | Ensembl | |
| rs2145517767 | 1933 | Q>P | No | Ensembl | |
| rs2145517767 | 1933 | Q>R | No | Ensembl | |
| rs2145517783 | 1934 | R>* | No | Ensembl | |
| rs2145517783 | 1934 | R>G | No | Ensembl | |
| rs2145517786 | 1934 | R>K | No | Ensembl | |
| rs2145517793 | 1934 | R>S | No | Ensembl | |
| rs2145517786 | 1934 | R>T | No | Ensembl | |
| rs979617423 | 1935 | A>G | No | Ensembl | |
| rs2059208193 | 1935 | A>P | No | Ensembl | |
| rs2059208193 | 1935 | A>T | No | Ensembl | |
| rs979617423 | 1935 | A>V | No | Ensembl | |
| rs1301825643 | 1936 | A>E | No | gnomAD | |
| rs1301825643 | 1936 | A>G | No | gnomAD | |
| rs2145517823 | 1936 | A>P | No | Ensembl | |
| rs2145517823 | 1936 | A>T | No | Ensembl | |
| rs2145517853 | 1937 | E>D | No | Ensembl | |
| rs2145517857 | 1938 | T>A | No | Ensembl | |
| rs1236533772 | 1938 | T>M | No |
TOPMed gnomAD |
|
| rs2145517857 | 1938 | T>P | No | Ensembl | |
| rs1236533772 | 1938 | T>R | No |
TOPMed gnomAD |
|
| rs2145517857 | 1938 | T>S | No | Ensembl | |
| rs2145517873 | 1939 | Q>* | No | Ensembl | |
| rs2145517873 | 1939 | Q>E | No | Ensembl | |
| rs1206391467 | 1939 | Q>H | No | gnomAD | |
| rs1347403274 | 1939 | Q>L | No | gnomAD | |
| rs1347403274 | 1939 | Q>P | No | gnomAD | |
| rs1347403274 | 1939 | Q>R | No | gnomAD | |
| rs2145517900 | 1940 | R>C | No | Ensembl | |
| rs2145517900 | 1940 | R>G | No | Ensembl | |
| rs749239035 | 1940 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs749239035 | 1940 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs2145517900 | 1940 | R>S | No | Ensembl | |
| rs2145517918 | 1941 | Q>* | No | Ensembl | |
| rs2145517918 | 1941 | Q>E | No | Ensembl | |
| rs2145517931 | 1941 | Q>H | No | Ensembl | |
| rs2059208379 | 1941 | Q>R | No | Ensembl | |
| rs2059208419 | 1942 | M>I | No | Ensembl | |
| rs917923226 | 1942 | M>K | No |
TOPMed gnomAD |
|
| rs2145517935 | 1942 | M>L | No | Ensembl | |
| rs917923226 | 1942 | M>R | No |
TOPMed gnomAD |
|
| rs917923226 | 1942 | M>T | No |
TOPMed gnomAD |
|
| rs2145517970 | 1943 | A>D | No | Ensembl | |
| rs2145517970 | 1943 | A>G | No | Ensembl | |
| rs2145517970 | 1943 | A>V | No | Ensembl | |
| rs2145517988 | 1944 | H>L | No | Ensembl | |
| rs1294306284 | 1944 | H>N | No | TOPMed | |
| rs2145517988 | 1944 | H>P | No | Ensembl | |
|
RCV002248127 rs142885571 |
1944 | H>Q | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1294306284 | 1944 | H>Y | No | TOPMed | |
| rs745900576 | 1945 | V>A | No |
ExAC gnomAD |
|
| rs745900576 | 1945 | V>E | No |
ExAC gnomAD |
|
| rs745900576 | 1945 | V>G | No |
ExAC gnomAD |
|
| rs774508702 | 1945 | V>L | No |
ExAC TOPMed gnomAD |
|
|
RCV002265349 COSM5859462 rs774508702 |
1945 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs2145518029 | 1946 | Q>E | No | Ensembl | |
| rs772381985 | 1946 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs2059208578 | 1947 | I>N | No | Ensembl | |
| rs2059208578 | 1947 | I>S | No | Ensembl | |
| COSM1034575 | 1948 | F>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2145518071 | 1948 | F>L | No | Ensembl | |
| rs2145518067 | 1948 | F>S | No | Ensembl | |
| rs1267665674 | 1949 | Q>* | No |
TOPMed gnomAD |
|
| rs1267665674 | 1949 | Q>E | No |
TOPMed gnomAD |
|
| rs1192534143 | 1949 | Q>H | No | TOPMed | |
| rs1267665674 | 1949 | Q>K | No |
TOPMed gnomAD |
|
| rs2145518099 | 1950 | R>K | No | Ensembl | |
| rs2145518099 | 1950 | R>M | No | Ensembl | |
|
COSM27189 rs1470129141 |
1950 | R>S | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs2145518099 | 1950 | R>T | No | Ensembl | |
| rs2145518094 | 1950 | R>W | No | Ensembl | |
| rs2145518114 | 1951 | P>A | No | Ensembl | |
| rs2145518124 | 1951 | P>Q | No | Ensembl | |
| rs2145518114 | 1951 | P>S | No | Ensembl | |
| rs2145518114 | 1951 | P>T | No | Ensembl | |
| rs775556373 | 1952 | I>F | No |
ExAC TOPMed gnomAD |
|
| rs775556373 | 1952 | I>L | No |
ExAC TOPMed gnomAD |
|
| rs751723154 | 1952 | I>M | No |
TOPMed gnomAD |
|
| rs1170019761 | 1952 | I>N | No |
TOPMed gnomAD |
|
| rs1170019761 | 1952 | I>T | No |
TOPMed gnomAD |
|
|
rs775556373 COSM3842766 |
1952 | I>V | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs372759477 | 1953 | Q>H | No |
ESP TOPMed gnomAD |
|
| rs2145518153 | 1953 | Q>K | No | Ensembl | |
| rs2059208731 | 1953 | Q>L | No | Ensembl | |
| rs2059208731 | 1953 | Q>P | No | Ensembl | |
| rs2059208731 | 1953 | Q>R | No | Ensembl | |
| rs2145518190 | 1954 | H>D | No | Ensembl | |
| rs2145518190 | 1954 | H>N | No | Ensembl | |
| rs565858141 | 1954 | H>Q | No |
1000Genomes ExAC gnomAD |
|
| rs761088915 | 1954 | H>R | No |
ExAC gnomAD |
|
| rs2145518190 | 1954 | H>Y | No | Ensembl | |
| rs1369604399 | 1955 | Q>H | No |
TOPMed gnomAD |
|
| rs2145518219 | 1955 | Q>K | No | Ensembl | |
| rs1443263885 | 1956 | M>I | No | gnomAD | |
| rs2145518252 | 1956 | M>K | No | Ensembl | |
| rs1311637459 | 1956 | M>L | No |
TOPMed gnomAD |
|
| rs1311637459 | 1956 | M>V | No |
TOPMed gnomAD |
|
| rs1301322622 | 1957 | P>A | No |
TOPMed gnomAD |
|
| rs1370619661 | 1957 | P>H | No | gnomAD | |
| rs1370619661 | 1957 | P>L | No | gnomAD | |
| rs1370619661 | 1957 | P>R | No | gnomAD | |
| rs1301322622 | 1957 | P>T | No |
TOPMed gnomAD |
|
|
rs2145518271 RCV002276110 |
1958 | P>missing | No |
ClinVar dbSNP |
|
| rs1374385672 | 1958 | P>A | No | TOPMed | |
|
COSM5944158 rs776916559 |
1958 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1374385672 | 1958 | P>S | No | TOPMed | |
| rs1374385672 | 1958 | P>T | No | TOPMed | |
| rs1306151890 | 1959 | M>I | No |
TOPMed gnomAD |
|
| rs2145518308 | 1959 | M>K | No | Ensembl | |
| rs2145518321 | 1960 | T>N | No | Ensembl | |
| rs751120457 | 1961 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs2145518336 | 1961 | P>H | No | Ensembl | |
| rs2145518336 | 1961 | P>L | No | Ensembl | |
| rs751120457 | 1961 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs751120457 | 1961 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs2145518356 | 1962 | M>I | No | Ensembl | |
| rs1470207509 | 1962 | M>L | No | gnomAD | |
| TCGA novel | 1962 | M>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1470207509 | 1962 | M>V | No | gnomAD | |
| rs754423861 | 1963 | A>D | No |
ExAC gnomAD |
|
| rs754423861 | 1963 | A>G | No |
ExAC gnomAD |
|
| rs1191276393 | 1963 | A>P | No |
TOPMed gnomAD |
|
| rs1191276393 | 1963 | A>S | No |
TOPMed gnomAD |
|
| rs1191276393 | 1963 | A>T | No |
TOPMed gnomAD |
|
| rs754423861 | 1963 | A>V | No |
ExAC gnomAD |
|
| rs767256506 | 1964 | P>A | No |
ExAC gnomAD |
|
| rs2145518390 | 1964 | P>H | No | Ensembl | |
| rs2145518390 | 1964 | P>L | No | Ensembl | |
| rs2145518390 | 1964 | P>R | No | Ensembl | |
| rs767256506 | 1964 | P>S | No |
ExAC gnomAD |
|
| rs767256506 | 1964 | P>T | No |
ExAC gnomAD |
|
| rs2145518408 | 1965 | M>I | No | Ensembl | |
| rs2145518406 | 1965 | M>K | No | Ensembl | |
| rs1176275491 | 1965 | M>L | No | gnomAD | |
| rs1176275491 | 1965 | M>V | No | gnomAD | |
| rs1165191542 | 1966 | G>A | No |
TOPMed gnomAD |
|
| rs369570698 | 1966 | G>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs1165191542 | 1966 | G>D | No |
TOPMed gnomAD |
|
| rs369570698 | 1966 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1165191542 | 1966 | G>V | No |
TOPMed gnomAD |
|
| rs1055425094 | 1967 | M>V | No |
TOPMed gnomAD |
|
| rs2145518448 | 1968 | N>K | No | Ensembl | |
| rs753635032 | 1968 | N>S | No |
ExAC gnomAD |
|
| rs1177814170 | 1969 | P>L | No |
TOPMed gnomAD |
|
| rs757245862 | 1969 | P>S | No |
ExAC gnomAD |
|
| rs746013036 | 1970 | P>L | No |
ExAC gnomAD |
|
| rs746013036 | 1970 | P>R | No |
ExAC gnomAD |
|
| rs1437362111 | 1970 | P>S | No |
TOPMed gnomAD |
|
| rs780323686 | 1971 | P>L | No |
ExAC gnomAD |
|
| rs772034350 | 1971 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs2145518509 | 1972 | M>I | No | Ensembl | |
| rs373725137 | 1972 | M>L | No |
ESP TOPMed gnomAD |
|
|
RCV003430821 CA10605703 rs373725137 RCV000404366 |
1972 | M>V | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
| rs747238037 | 1973 | T>I | No |
ExAC gnomAD |
|
| rs1212378369 | 1974 | R>G | No | gnomAD | |
| rs2145518532 | 1974 | R>S | No | Ensembl | |
| rs2059209380 | 1974 | R>T | No |
TOPMed gnomAD |
|
| rs1273051199 | 1975 | G>D | No | gnomAD | |
| rs781601164 | 1975 | G>R | No | Ensembl | |
| rs781601164 | 1975 | G>S | No | Ensembl | |
| rs1273051199 | 1975 | G>V | No | gnomAD | |
| rs1427345303 | 1976 | P>A | No |
TOPMed gnomAD |
|
|
rs1427345303 RCV001593506 |
1976 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
| rs777002800 | 1977 | S>T | No |
ExAC gnomAD |
|
| rs2059209493 | 1978 | G>E | No | TOPMed | |
| rs1253320448 | 1978 | G>R | No |
TOPMed gnomAD |
|
| rs2145518589 | 1979 | H>D | No | Ensembl | |
| rs375204555 | 1979 | H>L | No | ESP | |
| rs375204555 | 1979 | H>R | No | ESP | |
| rs2059209553 | 1980 | L>W | No | gnomAD | |
| rs1569121477 | 1981 | E>A | No | gnomAD | |
| rs955056237 | 1981 | E>D | No |
TOPMed gnomAD |
|
| rs1569121477 | 1981 | E>G | No | gnomAD | |
| rs2059209567 | 1981 | E>K | No | TOPMed | |
| rs2145518631 | 1982 | P>R | No | Ensembl | |
| rs2059209629 | 1982 | P>S | No | Ensembl | |
| rs1419768039 | 1983 | G>E | No | gnomAD | |
|
COSM3554894 rs1182301516 |
1983 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
gnomAD NCI-TCGA Cosmic |
| rs2059209719 | 1985 | G>V | No | gnomAD | |
| rs144626200 | 1986 | P>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs144626200 | 1986 | P>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2059209741 | 1986 | P>S | No | gnomAD | |
| rs1240648345 | 1987 | T>A | No |
TOPMed gnomAD |
|
| rs2145518693 | 1987 | T>K | No | Ensembl | |
| rs2145518693 | 1987 | T>R | No | Ensembl | |
| rs2059209841 | 1988 | G>A | No |
TOPMed gnomAD |
|
| rs2059209841 | 1988 | G>E | No |
TOPMed gnomAD |
|
| rs2145518700 | 1988 | G>R | No | Ensembl | |
|
RCV000762076 rs760421892 |
1989 | M>R | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs753730194 | 1990 | Q>* | No |
ExAC gnomAD |
|
| rs2145518752 | 1990 | Q>H | No | Ensembl | |
| rs753730194 | 1990 | Q>K | No |
ExAC gnomAD |
|
| rs551322744 | 1990 | Q>R | No |
1000Genomes ExAC gnomAD |
|
| rs778970417 | 1991 | Q>R | No |
ExAC gnomAD |
|
|
rs2059209950 RCV001268041 |
1992 | Q>missing | No |
ClinVar dbSNP |
|
| rs1332146367 | 1992 | Q>* | No | Ensembl | |
| rs1332146367 | 1992 | Q>E | No | Ensembl | |
| rs758290915 | 1992 | Q>H | No |
ExAC gnomAD |
|
| rs1332146367 | 1992 | Q>K | No | Ensembl | |
| rs2145518790 | 1993 | P>S | No | Ensembl | |
| rs2059210040 | 1994 | P>L | No | Ensembl | |
| rs2059210040 | 1994 | P>R | No | Ensembl | |
| rs2059210023 | 1994 | P>S | No | TOPMed | |
| rs2059210023 | 1994 | P>T | No | TOPMed | |
| rs768897698 | 1995 | W>C | No |
ExAC TOPMed gnomAD |
|
| rs2059210090 | 1996 | S>N | No |
TOPMed gnomAD |
|
| rs2059210110 | 1996 | S>R | No | TOPMed | |
| rs1601640764 | 1997 | Q>R | No | Ensembl | |
| rs2145518832 | 1998 | G>A | No | Ensembl | |
| rs1417305999 | 1999 | G>A | No |
TOPMed gnomAD |
|
| rs1417305999 | 1999 | G>E | No |
TOPMed gnomAD |
|
| rs2059210140 | 1999 | G>R | No | Ensembl | |
| rs748603241 | 2000 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs2059210198 | 2000 | L>M | No | TOPMed | |
| rs2059210198 | 2000 | L>V | No | TOPMed | |
| rs1210404526 | 2001 | P>A | No | gnomAD | |
| rs145026388 | 2001 | P>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs145026388 | 2001 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs145026388 | 2001 | P>R | No |
ESP ExAC TOPMed gnomAD |
|
| COSM1308211 | 2002 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1296116927 | 2002 | Q>K | No | gnomAD | |
| rs773556639 | 2002 | Q>P | No |
ExAC gnomAD |
|
| rs771512182 | 2003 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs1569121542 | 2003 | P>L | No | gnomAD | |
| rs771512182 | 2003 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs771512182 | 2003 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs369518618 | 2004 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145518956 | 2005 | Q>* | No | Ensembl | |
| rs760227533 | 2005 | Q>H | No | ExAC | |
| rs2145518976 | 2007 | Q>* | No | Ensembl | |
| rs753531005 | 2007 | Q>H | No |
ExAC gnomAD |
|
|
RCV001528370 rs763892493 VAR_080731 |
2007 | Q>R | found in a patient with spinocerebellar ataxia; uncertain significance [UniProt] | No |
ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
| rs2145518983 | 2008 | S>C | No | Ensembl | |
| COSM445043 | 2008 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM478999 | 2008 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2059210499 | 2009 | G>E | No | Ensembl | |
| rs2145518988 | 2009 | G>R | No | Ensembl | |
| rs2059210499 | 2009 | G>V | No | Ensembl | |
| rs2145519016 | 2010 | M>I | No | Ensembl | |
| rs2145519011 | 2010 | M>R | No | Ensembl | |
| rs761737628 | 2011 | P>L | No |
ExAC gnomAD |
|
| rs2145519019 | 2011 | P>S | No | Ensembl | |
| rs992236147 | 2012 | R>G | No |
TOPMed gnomAD |
|
| rs2145519038 | 2012 | R>K | No | Ensembl | |
| rs2145519046 | 2013 | P>A | No | Ensembl | |
| rs2059210585 | 2013 | P>L | No | Ensembl | |
| rs2059210585 | 2013 | P>Q | No | Ensembl | |
| rs556131924 | 2014 | A>D | No |
1000Genomes ExAC gnomAD |
|
| rs556131924 | 2014 | A>G | No |
1000Genomes ExAC gnomAD |
|
| rs1282539269 | 2014 | A>P | No | gnomAD | |
| rs556131924 | 2014 | A>V | No |
1000Genomes ExAC gnomAD |
|
| rs753072432 | 2015 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1601640837 | 2015 | M>T | No | Ensembl | |
|
rs2145519103 COSM4104439 |
2016 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA Cosmic |
| rs2059210790 | 2016 | M>R | No | TOPMed | |
| rs766263691 | 2016 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs1217562225 | 2017 | S>* | No |
TOPMed gnomAD |
|
| rs1349363022 | 2017 | S>A | No |
TOPMed gnomAD |
|
| rs1217562225 | 2017 | S>L | No |
TOPMed gnomAD |
|
| rs1349363022 | 2017 | S>P | No |
TOPMed gnomAD |
|
| rs2145519126 | 2018 | V>E | No | Ensembl | |
| rs2145519118 | 2018 | V>M | No | Ensembl | |
| rs2145519131 | 2019 | A>D | No | Ensembl | |
| rs2145519131 | 2019 | A>V | No | Ensembl | |
| rs573696044 | 2020 | Q>H | No | gnomAD | |
| rs2059210926 | 2021 | H>R | No | TOPMed | |
| rs1345270118 | 2021 | H>Y | No | gnomAD | |
| rs2145519172 | 2023 | Q>H | No | Ensembl | |
| rs2145519168 | 2023 | Q>K | No | Ensembl | |
| rs2059210944 | 2024 | P>A | No | Ensembl | |
| rs2145519179 | 2024 | P>H | No | Ensembl | |
| rs755035922 | 2025 | L>F | No |
ExAC gnomAD |
|
| rs2145519188 | 2026 | N>Y | No | Ensembl | |
| rs200460407 | 2028 | A>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs781459575 | 2028 | A>T | No |
ExAC gnomAD |
|
| rs200460407 | 2028 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs778019402 | 2029 | P>S | No |
ExAC gnomAD |
|
| rs2145519243 | 2030 | Q>* | No | Ensembl | |
| rs199650847 | 2031 | P>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1433089339 | 2031 | P>L | No |
TOPMed gnomAD |
|
| rs1433089339 | 2031 | P>Q | No |
TOPMed gnomAD |
|
| rs1397675543 | 2032 | G>E | No |
TOPMed gnomAD |
|
| rs201324169 | 2032 | G>R | No | 1000Genomes | |
| rs1397675543 | 2032 | G>V | No |
TOPMed gnomAD |
|
| rs1295031994 | 2033 | L>S | No |
TOPMed gnomAD |
|
| rs774980236 | 2034 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs1441073777 | 2035 | Q>H | No |
TOPMed gnomAD |
|
| rs768280269 | 2035 | Q>R | No |
ExAC gnomAD |
|
| rs2145519349 | 2036 | V>E | No | Ensembl | |
| rs2145519368 | 2037 | G>A | No | Ensembl | |
| rs2145519368 | 2037 | G>D | No | Ensembl | |
| rs1298444427 | 2037 | G>S | No | TOPMed | |
| rs2145519394 | 2038 | I>T | No | Ensembl | |
| rs761386616 | 2038 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs764896987 | 2039 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs2145519407 | 2039 | S>N | No | Ensembl | |
| rs1274849558 | 2039 | S>R | No | gnomAD | |
| rs2145519407 | 2039 | S>T | No | Ensembl | |
| rs2145519428 | 2040 | P>Q | No | Ensembl | |
| rs2059211391 | 2040 | P>S | No | TOPMed | |
| rs772911697 | 2041 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs2145519454 | 2041 | L>H | No | Ensembl | |
| rs2145519454 | 2041 | L>P | No | Ensembl | |
| rs772911697 | 2041 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs546354866 | 2043 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs546354866 | 2043 | P>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2145519470 | 2043 | P>S | No | Ensembl | |
| rs2145519470 | 2043 | P>T | No | Ensembl | |
| rs1457697396 | 2044 | G>A | No | TOPMed | |
| rs1457697396 | 2044 | G>D | No | TOPMed | |
| rs2145519499 | 2045 | T>I | No | Ensembl | |
| rs2145519512 | 2046 | V>E | No | Ensembl | |
| rs1452095592 | 2046 | V>M | No |
TOPMed gnomAD |
|
| rs766361391 | 2048 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs766361391 | 2048 | Q>K | No |
ExAC TOPMed gnomAD |
|
| rs2145519555 | 2050 | A>D | No | Ensembl | |
| rs2145519555 | 2050 | A>G | No | Ensembl | |
| rs2145519545 | 2050 | A>P | No | Ensembl | |
| rs2145519545 | 2050 | A>T | No | Ensembl | |
| rs941288117 | 2052 | Q>E | No | Ensembl | |
| rs1166498480 | 2053 | N>K | No |
TOPMed gnomAD |
|
| rs2145519574 | 2053 | N>T | No | Ensembl | |
| COSM3554895 | 2054 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs758996869 | 2056 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs752770043 | 2056 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs756318910 | 2057 | T>I | No |
ExAC gnomAD |
|
| rs756318910 | 2057 | T>S | No |
ExAC gnomAD |
|
|
TCGA novel rs2145519639 |
2058 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2145519664 | 2059 | R>S | No | Ensembl | |
|
RCV001818010 rs2145519648 |
2059 | R>missing | No |
ClinVar dbSNP |
|
| rs1295897899 | 2059 | R>G | No |
TOPMed gnomAD |
|
| rs1327804982 | 2059 | R>T | No | gnomAD | |
| rs1295897899 | 2059 | R>W | No |
TOPMed gnomAD |
|
|
rs2059211839 RCV001786572 |
2060 | S>C | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs2059211839 | 2060 | S>Y | No |
TOPMed gnomAD |
|
| rs2145519685 | 2061 | P>H | No | Ensembl | |
| rs1356752023 | 2061 | P>S | No |
TOPMed gnomAD |
|
| rs375710969 | 2062 | S>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs375710969 | 2062 | S>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs926128388 | 2063 | S>P | No |
TOPMed gnomAD |
|
| rs2059211952 | 2064 | P>L | No | Ensembl | |
| rs1555912238 | 2066 | Q>K | No | Ensembl | |
| rs2059212032 | 2066 | Q>R | No | Ensembl | |
| rs2145519768 | 2067 | Q>* | No | Ensembl | |
| TCGA novel | 2068 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2059212056 | 2068 | Q>R | No | Ensembl | |
| rs2145519795 | 2069 | Q>K | No | Ensembl | |
| rs1430512329 | 2072 | S>N | No | gnomAD | |
| rs1430512329 | 2072 | S>T | No | gnomAD | |
| rs2145519838 | 2073 | I>L | No | Ensembl | |
| rs772898987 | 2074 | L>F | No |
ExAC gnomAD |
|
| rs2145519856 | 2075 | H>L | No | Ensembl | |
| rs543501228 | 2075 | H>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs766166888 | 2076 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs766166888 | 2076 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2145519879 | 2076 | A>V | No | Ensembl | |
| COSM4878676 | 2077 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1464462547 | 2077 | N>S | No | TOPMed | |
| rs1416285236 | 2078 | P>R | No | gnomAD | |
| rs774071786 | 2079 | Q>H | No |
ExAC gnomAD |
|
| rs2145519916 | 2081 | L>M | No | Ensembl | |
| rs2145519926 | 2082 | A>T | No | Ensembl | |
| rs2145519931 | 2083 | A>T | No | Ensembl | |
| rs2145519938 | 2083 | A>V | No | Ensembl | |
| rs1168630145 | 2084 | F>L | No |
TOPMed gnomAD |
|
| COSM1034577 | 2084 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1386769292 | 2085 | I>V | No | gnomAD | |
| rs2145519958 | 2086 | K>N | No | Ensembl | |
| rs2145519963 | 2087 | Q>* | No | Ensembl | |
|
RCV001815915 rs767446483 |
2087 | Q>H | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs201569846 | 2088 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2145519975 | 2088 | R>Q | No | Ensembl | |
| rs2145519980 | 2089 | A>T | No | Ensembl | |
| rs2145519985 | 2089 | A>V | No | Ensembl | |
| rs1018366144 | 2090 | A>G | No | Ensembl | |
| rs2145519997 | 2090 | A>T | No | Ensembl | |
| rs1018366144 | 2090 | A>V | No | Ensembl | |
|
rs2059212476 RCV001767126 |
2092 | Y>D | No |
ClinVar dbSNP gnomAD |
|
| rs2059212476 | 2092 | Y>H | No | gnomAD | |
| rs764284032 | 2093 | A>D | No |
ExAC gnomAD |
|
| rs2145520023 | 2093 | A>P | No | Ensembl | |
| rs2145520023 | 2093 | A>T | No | Ensembl | |
| rs764284032 | 2093 | A>V | No |
ExAC gnomAD |
|
| rs1569121834 | 2094 | N>K | No | Ensembl | |
|
rs757490161 RCV001658752 |
2094 | N>S | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs779436208 | 2095 | S>P | No |
ExAC TOPMed gnomAD |
|
| rs750769421 | 2096 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs200189212 | 2097 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1190484549 | 2098 | Q>H | No | gnomAD | |
| rs2145520104 | 2098 | Q>R | No | Ensembl | |
| rs2059212643 | 2099 | P>L | No |
TOPMed gnomAD |
|
| rs2145520114 | 2099 | P>S | No | Ensembl | |
| rs2145520114 | 2099 | P>T | No | Ensembl | |
| rs1601641121 | 2100 | I>L | No | Ensembl | |
| rs1569121857 | 2101 | P>L | No | Ensembl | |
| rs747661904 | 2101 | P>S | No |
ExAC gnomAD |
|
| rs747661904 | 2101 | P>T | No |
ExAC gnomAD |
|
| rs375274986 | 2104 | P>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs138584705 | 2104 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs138584705 | 2104 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs375274986 | 2104 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs375274986 | 2104 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1001115554 | 2105 | G>D | No | Ensembl | |
| rs1001115554 | 2105 | G>V | No | Ensembl | |
| rs771948378 | 2106 | M>L | No |
ExAC gnomAD |
|
| rs111530329 | 2106 | M>I | No | Ensembl | |
| rs771948378 | 2106 | M>V | No |
ExAC gnomAD |
|
| rs2145520217 | 2107 | P>A | No | Ensembl | |
| rs2145520217 | 2107 | P>S | No | Ensembl | |
| rs760736215 | 2108 | Q>P | No |
ExAC TOPMed gnomAD |
|
| rs760736215 | 2108 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs2145520235 | 2109 | G>W | No | Ensembl | |
| rs2145520246 | 2110 | Q>* | No | Ensembl | |
| rs2145520246 | 2110 | Q>E | No | Ensembl | |
| rs2059213035 | 2111 | P>A | No | Ensembl | |
| rs1391903919 | 2111 | P>R | No | gnomAD | |
| rs2059213035 | 2111 | P>S | No | Ensembl | |
| rs2059213035 | 2111 | P>T | No | Ensembl | |
| rs762151570 | 2112 | G>A | No |
ExAC gnomAD |
|
| rs762151570 | 2112 | G>E | No |
ExAC gnomAD |
|
| rs2059213094 | 2113 | L>P | No | Ensembl | |
| rs2059213094 | 2113 | L>Q | No | Ensembl | |
| rs2145520284 | 2114 | Q>* | No | Ensembl | |
| rs141593868 | 2114 | Q>H | No |
ESP ExAC gnomAD |
|
| rs2145520291 | 2114 | Q>R | No | Ensembl | |
| rs540687308 | 2115 | P>L | No | 1000Genomes | |
| rs2145520300 | 2115 | P>S | No | Ensembl | |
| rs780484236 | 2116 | P>A | No |
ExAC gnomAD |
|
| rs2059213201 | 2116 | P>L | No | TOPMed | |
| rs780484236 | 2116 | P>S | No |
ExAC gnomAD |
|
| rs998587751 | 2117 | T>A | No | TOPMed | |
| rs2059213237 | 2117 | T>N | No | Ensembl | |
| rs998587751 | 2117 | T>S | No | TOPMed | |
| rs2059213237 | 2117 | T>S | No | Ensembl | |
| rs2145520364 | 2118 | M>I | No | Ensembl | |
| rs2145520359 | 2118 | M>K | No | Ensembl | |
| rs2145520366 | 2119 | P>A | No | Ensembl | |
| rs2145520366 | 2119 | P>S | No | Ensembl | |
| rs2145520374 | 2120 | G>A | No | Ensembl | |
| rs886057567 | 2120 | G>C | No | Ensembl | |
| rs886057567 | 2120 | G>S | No | Ensembl | |
| rs2059213303 | 2121 | Q>E | No | TOPMed | |
| rs559582949 | 2121 | Q>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs748755126 | 2122 | Q>H | No |
ExAC gnomAD |
|
| rs1330110291 | 2122 | Q>P | No | TOPMed | |
| COSM727025 | 2123 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2059213415 | 2124 | V>A | No | Ensembl | |
| rs2059213415 | 2124 | V>G | No | Ensembl | |
|
rs2059213395 TCGA novel |
2124 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs2059213395 | 2124 | V>L | No | TOPMed | |
| COSM727024 | 2125 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2145520439 | 2125 | H>Y | No | Ensembl | |
| rs2059213520 | 2126 | S>F | No | TOPMed | |
| rs1454919025 | 2126 | S>P | No | TOPMed | |
| rs2059213520 | 2126 | S>Y | No | TOPMed | |
| rs760676839 | 2127 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs768432479 | 2128 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs1374644901 | 2128 | P>L | No | gnomAD | |
| rs1374644901 | 2128 | P>Q | No | gnomAD | |
| rs768432479 | 2128 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs1840765647 | 2129 | A>D | No | TOPMed | |
| rs2145520498 | 2129 | A>T | No | Ensembl | |
| rs1840765647 | 2129 | A>V | No | TOPMed | |
|
RCV000997934 rs1299853803 |
2130 | M>T | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1462265075 | 2130 | M>V | No | gnomAD | |
| rs2145520543 | 2131 | Q>* | No | Ensembl | |
| rs2145520543 | 2131 | Q>K | No | Ensembl | |
| rs886057569 | 2132 | N>I | No | Ensembl | |
| rs1440211714 | 2133 | M>I | No |
TOPMed gnomAD |
|
| rs530630090 | 2133 | M>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs761955163 | 2133 | M>V | No |
ExAC gnomAD |
|
| rs773555512 | 2134 | N>K | No |
ExAC gnomAD |
|
| rs2145520579 | 2135 | P>A | No | Ensembl | |
| rs1219302352 | 2136 | M>K | No | TOPMed | |
| rs1219302352 | 2136 | M>T | No | TOPMed | |
| rs2145520595 | 2137 | Q>* | No | Ensembl | |
| rs587778258 | 2138 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs1601641306 | 2139 | G>R | No | Ensembl | |
| rs367685222 | 2140 | V>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs367685222 | 2140 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs1376578445 | 2141 | Q>E | No |
TOPMed gnomAD |
|
| rs1479937842 | 2141 | Q>H | No | gnomAD | |
| rs756742207 | 2142 | R>K | No |
ExAC gnomAD |
|
| rs903503580 | 2143 | A>G | No | Ensembl | |
|
rs2145520663 COSM35612 |
2143 | A>T | central_nervous_system [Cosmic] | No |
cosmic curated Ensembl |
| rs903503580 | 2143 | A>V | No | Ensembl | |
| rs1455153764 | 2144 | G>D | No | gnomAD | |
| rs1455153764 | 2144 | G>V | No | gnomAD | |
| rs2145520708 | 2146 | P>A | No | Ensembl | |
| rs745528077 | 2146 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs2145520708 | 2146 | P>S | No | Ensembl | |
| rs757934635 | 2147 | Q>E | No |
ExAC gnomAD |
|
| rs2059214109 | 2147 | Q>R | No | Ensembl | |
| rs2145520742 | 2148 | Q>* | No | Ensembl | |
| rs779923623 | 2149 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs2059214132 | 2149 | Q>R | No |
TOPMed gnomAD |
|
| rs2145520770 | 2150 | P>T | No | Ensembl | |
| rs746744380 | 2151 | Q>E | No |
ExAC gnomAD |
|
| TCGA novel | 2151 | Q>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145520802 | 2153 | Q>* | No | Ensembl | |
| rs2059214253 | 2154 | L>F | No | TOPMed | |
| rs2059214253 | 2154 | L>I | No | TOPMed | |
| rs1395341107 | 2155 | Q>* | No | gnomAD | |
| rs1395341107 | 2155 | Q>E | No | gnomAD | |
| rs2145520826 | 2155 | Q>H | No | Ensembl | |
| rs371166699 | 2155 | Q>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs371166699 | 2155 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145520836 | 2156 | P>S | No | Ensembl | |
| rs2145520854 | 2157 | P>S | No | Ensembl | |
| rs748298164 | 2158 | M>I | No |
ExAC gnomAD |
|
| rs1367145568 | 2158 | M>V | No |
TOPMed gnomAD |
|
| rs2145520896 | 2159 | G>* | No | Ensembl | |
| rs2145520896 | 2159 | G>R | No | Ensembl | |
| rs2145520917 | 2160 | G>E | No | Ensembl | |
| rs1569122054 | 2160 | G>R | No | Ensembl | |
| rs1569122054 | 2160 | G>W | No | Ensembl | |
| rs1218584241 | 2161 | M>I | No | gnomAD | |
| rs2145520935 | 2162 | S>G | No | Ensembl | |
| rs773365574 | 2162 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs2145520940 | 2162 | S>T | No | Ensembl | |
| rs2059214454 | 2163 | P>A | No | TOPMed | |
|
RCV000882950 rs1013716287 |
2163 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
| rs2145520977 | 2164 | Q>H | No | Ensembl | |
| rs2059214509 | 2164 | Q>L | No | Ensembl | |
| rs2059214509 | 2164 | Q>R | No | Ensembl | |
| rs138656422 | 2165 | A>D | No |
1000Genomes ExAC gnomAD |
|
| rs2059214523 | 2165 | A>T | No | Ensembl | |
| rs138656422 | 2165 | A>V | No |
1000Genomes ExAC gnomAD |
|
| rs2145520997 | 2167 | Q>* | No | Ensembl | |
|
CA158526 rs566357328 RCV000120727 |
2168 | M>I | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1187838839 | 2168 | M>L | No | gnomAD | |
| rs371107766 | 2169 | N>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs1477344615 | 2169 | N>S | No | gnomAD | |
| rs1463124826 | 2170 | M>I | No | gnomAD | |
| rs1419903766 | 2170 | M>L | No |
TOPMed gnomAD |
|
| rs1419903766 | 2170 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs753195576 | 2171 | N>H | No |
ExAC gnomAD |
|
| rs1349587000 | 2171 | N>K | No |
TOPMed gnomAD |
|
| rs756550248 | 2172 | H>L | No |
ExAC TOPMed gnomAD |
|
| rs756550248 | 2172 | H>P | No |
ExAC TOPMed gnomAD |
|
| rs139382344 | 2172 | H>Q | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 2172 | H>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2059214744 | 2173 | N>D | No | TOPMed | |
|
RCV001786826 rs1555912302 |
2173 | N>T | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs5758252 | 2174 | T>P | No |
ExAC TOPMed gnomAD |
|
|
rs5758252 VAR_038376 |
2174 | T>S | No |
UniProt ExAC TOPMed dbSNP gnomAD |
|
| rs1337564459 | 2175 | M>I | No | gnomAD | |
|
COSM88786 rs758104803 |
2175 | M>L | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs746871804 | 2176 | P>H | No |
ExAC gnomAD |
|
| rs746871804 | 2176 | P>L | No |
ExAC gnomAD |
|
| rs779543207 | 2176 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs1486351196 | 2177 | S>A | No | TOPMed | |
| rs1316927373 | 2177 | S>L | No | gnomAD | |
| rs754808991 | 2178 | Q>R | No | ExAC | |
| rs201097711 | 2180 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs745390323 | 2180 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs745390323 | 2180 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs149611960 | 2181 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs1259603610 | 2182 | I>M | No | gnomAD | |
| rs1443927819 | 2182 | I>T | No | gnomAD | |
| rs749295430 | 2183 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs2145521200 | 2184 | R>* | No | Ensembl | |
| rs2145521200 | 2184 | R>G | No | Ensembl | |
| rs2145521209 | 2184 | R>I | No | Ensembl | |
| rs2145521209 | 2184 | R>K | No | Ensembl | |
| rs2145521209 | 2184 | R>T | No | Ensembl | |
| rs1413325383 | 2185 | R>Q | No |
TOPMed gnomAD |
|
| rs2145521229 | 2186 | Q>* | No | Ensembl | |
| rs2145521229 | 2186 | Q>E | No | Ensembl | |
| rs375241990 | 2186 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145521237 | 2187 | Q>E | No | Ensembl | |
| rs2145521237 | 2187 | Q>K | No | Ensembl | |
| rs2145521259 | 2188 | M>K | No | Ensembl | |
| rs1244699705 | 2188 | M>L | No | gnomAD | |
| rs1244699705 | 2188 | M>V | No | gnomAD | |
| rs1569122143 | 2189 | M>I | No | TOPMed | |
| rs760010321 | 2189 | M>K | No | ExAC | |
| rs760010321 | 2189 | M>T | No | ExAC | |
| rs1161334506 | 2189 | M>V | No | gnomAD | |
| rs2145521297 | 2190 | Q>* | No | Ensembl | |
| rs2145521297 | 2190 | Q>E | No | Ensembl | |
| rs2059215324 | 2192 | Q>E | No | Ensembl | |
| rs2059215324 | 2192 | Q>K | No | Ensembl | |
| rs2145521338 | 2193 | Q>* | No | Ensembl | |
| rs2145521350 | 2194 | Q>K | No | Ensembl | |
| rs2059215356 | 2194 | Q>R | No | TOPMed | |
| rs2145521377 | 2196 | G>E | No | Ensembl | |
|
rs587778260 RCV000120728 CA158528 |
2196 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2145521386 | 2197 | A>T | No | Ensembl | |
| rs377595736 | 2197 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs370216095 | 2198 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145521415 | 2199 | P>A | No | Ensembl | |
| rs2145521415 | 2199 | P>T | No | Ensembl | |
| rs766113308 | 2200 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs766113308 | 2200 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs1281461560 | 2200 | G>R | No |
TOPMed gnomAD |
|
| rs766113308 | 2200 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs2145521455 | 2201 | I>K | No | Ensembl | |
| rs2145521455 | 2201 | I>R | No | Ensembl | |
| rs781155908 | 2201 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs374411105 | 2202 | G>R | No |
ESP ExAC gnomAD |
|
| rs374411105 | 2202 | G>S | No |
ESP ExAC gnomAD |
|
| rs1233278896 | 2203 | P>L | No | gnomAD | |
| rs1358846937 | 2203 | P>T | No |
TOPMed gnomAD |
|
| rs2145521490 | 2204 | G>R | No | Ensembl | |
| TCGA novel | 2205 | M>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145521516 | 2206 | A>G | No | Ensembl | |
| COSM4104441 | 2206 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2145521511 | 2206 | A>T | No | Ensembl | |
| rs2145521516 | 2206 | A>V | No | Ensembl | |
| rs1211014285 | 2208 | H>R | No | gnomAD | |
| rs770907743 | 2209 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs2145521556 | 2210 | Q>* | No | Ensembl | |
| rs1413036883 | 2210 | Q>H | No |
TOPMed gnomAD |
|
|
rs778982671 COSM215865 |
2211 | F>L | NS [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs2059215764 | 2211 | F>S | No | TOPMed | |
| rs2059215796 | 2212 | Q>* | No | TOPMed | |
| rs2145521595 | 2213 | Q>* | No | Ensembl | |
| rs2145521599 | 2213 | Q>H | No | Ensembl | |
| rs2145521595 | 2213 | Q>K | No | Ensembl | |
| rs2145521602 | 2214 | P>A | No | Ensembl | |
| rs140819454 | 2214 | P>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs140819454 | 2214 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2145521602 | 2214 | P>S | No | Ensembl | |
| COSM4854311 | 2215 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs2145521625 COSM479000 |
2215 | Q>K | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs1333876461 | 2216 | G>R | No |
TOPMed gnomAD |
|
| rs2059215893 | 2217 | V>G | No | gnomAD | |
| rs2059215932 | 2219 | Y>C | No | Ensembl | |
| rs929892694 | 2219 | Y>H | No | Ensembl | |
| rs762593304 | 2220 | P>A | No |
ExAC gnomAD |
|
|
RCV002211051 rs555467754 |
2220 | P>L | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs555467754 | 2220 | P>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs28937578 COSM1416496 |
2221 | P>L | large_intestine [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs1305050514 | 2222 | Q>* | No | gnomAD | |
| rs111265631 | 2222 | Q>R | No | Ensembl | |
| rs2145521728 | 2223 | Q>* | No | Ensembl | |
| rs2145521728 | 2223 | Q>K | No | Ensembl | |
| rs1199829299 | 2225 | Q>R | No | gnomAD | |
| rs372813939 | 2226 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs752587236 | 2226 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs757157815 | 2227 | M>I | No |
ExAC gnomAD |
|
| rs777828940 | 2227 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs374135370 | 2227 | M>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs777828940 | 2227 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs778884302 | 2228 | Q>* | No |
ExAC gnomAD |
|
| rs778884302 | 2228 | Q>E | No |
ExAC gnomAD |
|
| rs142722688 | 2229 | H>N | No | ESP | |
| rs758664705 | 2229 | H>Q | No |
ExAC gnomAD |
|
| rs142722688 | 2229 | H>Y | No | ESP | |
| rs1165581771 | 2230 | H>Q | No | TOPMed | |
| rs1411994052 | 2231 | M>I | No |
TOPMed gnomAD |
|
| rs780235974 | 2231 | M>L | No |
ExAC gnomAD |
|
| rs780235974 | 2231 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs151009770 | 2232 | Q>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs140852765 | 2232 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs151009770 | 2232 | Q>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs767941984 | 2232 | Q>P | No | gnomAD | |
| rs767941984 | 2232 | Q>R | No | gnomAD | |
|
RCV002273688 rs2145521936 |
2233 | Q>E | No |
ClinVar Ensembl dbSNP |
|
| rs1423597557 | 2233 | Q>P | No | Ensembl | |
| rs2145521945 | 2234 | M>K | No | Ensembl | |
| rs1328866620 | 2235 | Q>H | No |
TOPMed gnomAD |
|
| rs770293450 | 2235 | Q>K | No |
ExAC TOPMed gnomAD |
|
| rs2145521967 | 2237 | G>E | No | Ensembl | |
| rs773772482 | 2237 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs759095488 | 2238 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs1257234898 | 2238 | N>K | No | gnomAD | |
|
RCV000177532 rs767335677 CA243741 |
2238 | N>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| rs775274711 | 2239 | M>K | No |
ExAC TOPMed gnomAD |
|
| rs775274711 | 2239 | M>R | No |
ExAC TOPMed gnomAD |
|
| rs775274711 | 2239 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs1263446940 | 2239 | M>V | No | TOPMed | |
|
RCV001754106 rs2145522007 |
2240 | G>R | No |
ClinVar Ensembl dbSNP |
|
| rs763807921 | 2240 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs2145522024 | 2241 | Q>E | No | Ensembl | |
| rs200119686 | 2241 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs1198330253 | 2242 | I>M | No | gnomAD | |
| rs2145522045 | 2243 | G>D | No | Ensembl | |
| rs972355966 | 2244 | Q>K | No |
TOPMed gnomAD |
|
| rs1310111885 | 2244 | Q>R | No |
TOPMed gnomAD |
|
| rs2145522082 | 2246 | P>S | No | Ensembl | |
| rs2145522099 | 2247 | Q>K | No | Ensembl | |
| rs1476701022 | 2247 | Q>R | No | gnomAD | |
| rs750553966 | 2248 | A>D | No |
ExAC gnomAD |
|
| rs750553966 | 2248 | A>G | No |
ExAC gnomAD |
|
| rs2059216759 | 2248 | A>S | No |
TOPMed gnomAD |
|
| rs750553966 | 2248 | A>V | No |
ExAC gnomAD |
|
| rs758459646 | 2249 | L>F | No |
ExAC gnomAD |
|
| rs1461589152 | 2250 | G>A | No | gnomAD | |
| rs2059216829 | 2251 | A>T | No | Ensembl | |
| rs2145522130 | 2251 | A>V | No | Ensembl | |
| COSM1308214 | 2252 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs930274801 | 2252 | E>D | No | TOPMed | |
| rs1327511041 | 2253 | A>T | No | gnomAD | |
| rs2145522147 | 2253 | A>V | No | Ensembl | |
| rs2145522163 | 2254 | G>D | No | Ensembl | |
| rs372041689 | 2254 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs755172061 | 2255 | A>G | No |
ExAC TOPMed gnomAD |
|
|
rs755172061 RCV001652970 |
2255 | A>V | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs781439701 | 2256 | S>I | No |
ExAC gnomAD |
|
| rs781439701 | 2256 | S>T | No |
ExAC gnomAD |
|
| rs2145522195 | 2257 | L>I | No | Ensembl | |
|
rs2145522206 COSM1416497 |
2258 | Q>* | Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2145522217 | 2258 | Q>H | No | Ensembl | |
| rs374908361 | 2259 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs2059217023 | 2260 | Y>N | No | Ensembl | |
| rs2059217064 | 2261 | Q>R | No | TOPMed | |
| rs2145522247 | 2262 | Q>* | No | Ensembl | |
| rs1354580969 | 2263 | R>* | No |
TOPMed gnomAD |
|
| rs1354580969 | 2263 | R>G | No |
TOPMed gnomAD |
|
| rs773841539 | 2263 | R>P | No |
ExAC gnomAD |
|
|
COSM3740446 rs773841539 |
2263 | R>Q | liver [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs371222241 | 2265 | L>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs371222241 | 2265 | L>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs2059217175 | 2266 | Q>* | No | TOPMed | |
| rs2059217236 | 2266 | Q>H | No | Ensembl | |
| rs2059217175 | 2266 | Q>K | No | TOPMed | |
| rs1192149090 | 2266 | Q>P | No | gnomAD | |
| rs1192149090 | 2266 | Q>R | No | gnomAD | |
| rs2059217284 | 2268 | Q>E | No | TOPMed | |
|
COSM244264 rs2059217284 |
2268 | Q>K | prostate [Cosmic] | No |
cosmic curated TOPMed |
| rs775080168 | 2269 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs1316610590 | 2269 | M>L | No |
TOPMed gnomAD |
|
| rs760423605 | 2270 | G>E | No |
ExAC gnomAD |
|
| rs2145522367 | 2270 | G>R | No | Ensembl | |
| rs2145522384 | 2271 | S>C | No | Ensembl | |
| rs2059217368 | 2271 | S>P | No | Ensembl | |
| rs1386526100 | 2272 | P>R | No |
TOPMed gnomAD |
|
| rs2059217414 | 2273 | V>A | No | Ensembl | |
| rs776333635 | 2273 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs1258833321 | 2274 | Q>* | No |
TOPMed gnomAD |
|
| rs1258833321 | 2274 | Q>E | No |
TOPMed gnomAD |
|
| rs1258833321 | 2274 | Q>K | No |
TOPMed gnomAD |
|
| rs892684379 | 2275 | P>H | No | TOPMed | |
| rs892684379 | 2275 | P>L | No | TOPMed | |
| rs2145522432 | 2275 | P>S | No | Ensembl | |
| rs369929467 | 2276 | N>S | No | Ensembl | |
| rs2145522467 | 2277 | P>H | No | Ensembl | |
| rs2145522467 | 2277 | P>L | No | Ensembl | |
| rs765150318 | 2277 | P>S | No |
ExAC gnomAD |
|
| rs765150318 | 2277 | P>T | No |
ExAC gnomAD |
|
| rs1173520880 | 2278 | M>V | No |
TOPMed gnomAD |
|
| rs2059217534 | 2279 | S>C | No | TOPMed | |
| rs2059217534 | 2279 | S>G | No | TOPMed | |
| rs1432302501 | 2279 | S>I | No |
TOPMed gnomAD |
|
| rs2145522507 | 2279 | S>R | No | Ensembl | |
| rs2059217568 | 2281 | Q>* | No | TOPMed | |
| rs2059217568 | 2281 | Q>E | No | TOPMed | |
| rs2059217586 | 2281 | Q>H | No |
TOPMed gnomAD |
|
| rs2145522533 | 2282 | Q>* | No | Ensembl | |
| rs1601642042 | 2282 | Q>R | No | Ensembl | |
| rs2145522547 | 2283 | H>N | No | Ensembl | |
| rs2059217624 | 2283 | H>R | No | TOPMed | |
| rs2145522573 | 2284 | M>I | No | Ensembl | |
| rs1416377023 | 2284 | M>T | No |
TOPMed gnomAD |
|
| rs1046681500 | 2285 | L>F | No | Ensembl | |
| rs1244372008 | 2286 | P>L | No | gnomAD | |
| rs1244372008 | 2286 | P>Q | No | gnomAD | |
| rs1338889339 | 2286 | P>S | No |
TOPMed gnomAD |
|
| rs2145522603 | 2287 | N>D | No | Ensembl | |
| rs1460889953 | 2287 | N>T | No | gnomAD | |
| rs2145522620 | 2288 | Q>H | No | Ensembl | |
| rs943142293 | 2288 | Q>P | No |
TOPMed gnomAD |
|
| rs943142293 | 2288 | Q>R | No |
TOPMed gnomAD |
|
| rs1214636297 | 2289 | A>G | No | gnomAD | |
| rs1355958756 | 2289 | A>P | No |
TOPMed gnomAD |
|
| rs1355958756 | 2289 | A>T | No |
TOPMed gnomAD |
|
| rs1214636297 | 2289 | A>V | No | gnomAD | |
|
CA411682925 RCV000518909 rs1555912362 |
2290 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2145522649 | 2290 | Q>H | No | Ensembl | |
| rs2145522656 | 2291 | S>F | No | Ensembl | |
| rs751592464 | 2292 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs2145522676 | 2294 | L>P | No | Ensembl | |
| rs2059217869 | 2295 | Q>* | No | TOPMed | |
| rs2059217869 | 2295 | Q>E | No | TOPMed | |
| rs2145522698 | 2296 | G>A | No | Ensembl | |
|
rs2059218009 COSM1034579 |
2298 | Q>* | Variant assessed as Somatic; HIGH impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2059218009 | 2298 | Q>E | No | Ensembl | |
| rs2059218009 | 2298 | Q>K | No | Ensembl | |
| rs2059218035 | 2298 | Q>L | No | Ensembl | |
| rs1481010407 | 2299 | I>N | No |
TOPMed gnomAD |
|
| rs756496226 | 2300 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs2145522760 | 2300 | P>S | No | Ensembl | |
| rs778212609 | 2301 | N>D | No |
ExAC gnomAD |
|
| TCGA novel | 2301 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145522792 | 2302 | S>T | No | Ensembl | |
|
rs144787962 COSM139231 |
2303 | L>F | skin [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs1395608183 | 2303 | L>P | No | gnomAD | |
|
RCV000120723 rs144787962 CA158518 |
2303 | L>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs746499882 | 2304 | S>F | No |
ExAC gnomAD |
|
| TCGA novel | 2304 | S>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs746499882 | 2304 | S>Y | No |
ExAC gnomAD |
|
| rs761580632 | 2305 | N>H | No |
ExAC gnomAD |
|
| rs769583219 | 2305 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs766271527 | 2307 | V>G | No |
ExAC gnomAD |
|
| rs762902200 | 2307 | V>L | No |
ExAC gnomAD |
|
| rs762902200 | 2307 | V>M | No |
ExAC gnomAD |
|
| rs759647202 | 2308 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs759647202 | 2308 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs1395188135 | 2309 | S>A | No |
TOPMed gnomAD |
|
| rs2145522918 | 2309 | S>F | No | Ensembl | |
| rs1395188135 | 2309 | S>P | No |
TOPMed gnomAD |
|
| rs2145522918 | 2309 | S>Y | No | Ensembl | |
| rs2059218676 | 2310 | P>A | No | TOPMed | |
| rs2145522934 | 2310 | P>H | No | Ensembl | |
| rs2145522934 | 2310 | P>R | No | Ensembl | |
| rs2059218676 | 2310 | P>S | No | TOPMed | |
| rs2145522945 | 2311 | Q>H | No | Ensembl | |
| rs1173880379 | 2312 | P>H | No | gnomAD | |
| rs1173880379 | 2312 | P>L | No | gnomAD | |
| rs137935821 | 2312 | P>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs752964240 | 2313 | V>G | No |
ExAC gnomAD |
|
| rs2059218736 | 2313 | V>I | No | Ensembl | |
| rs2059218736 | 2313 | V>L | No | Ensembl | |
| rs1299720265 | 2314 | P>A | No |
TOPMed gnomAD |
|
| rs2059218811 | 2314 | P>L | No | Ensembl | |
| rs1299720265 | 2314 | P>T | No |
TOPMed gnomAD |
|
| rs2059218849 | 2315 | S>F | No | Ensembl | |
| rs778302414 | 2316 | P>L | No |
ExAC gnomAD |
|
| COSM1034581 | 2317 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs149456776 | 2317 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
|
rs149456776 RCV000120729 CA158530 COSM4991537 |
2317 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs2059218900 | 2317 | R>W | No | TOPMed | |
| rs1371834733 | 2318 | P>L | No |
TOPMed gnomAD |
|
| rs1601642243 | 2318 | P>S | No | Ensembl | |
| rs1601642243 | 2318 | P>T | No | Ensembl | |
| rs1175084387 | 2319 | Q>H | No | gnomAD | |
| rs746562282 | 2319 | Q>K | No |
ExAC gnomAD |
|
| rs1297979649 | 2319 | Q>P | No | gnomAD | |
|
RCV002247808 rs2145523070 |
2319 | Q>missing | No |
ClinVar dbSNP |
|
| rs746562282 | 2319 | Q>* | No |
ExAC gnomAD |
|
| rs1297979649 | 2319 | Q>R | No | gnomAD | |
| rs2145523121 | 2320 | S>C | No | Ensembl | |
| rs768211521 | 2320 | S>P | No |
ExAC gnomAD |
|
| rs2145523121 | 2320 | S>Y | No | Ensembl | |
| rs1455875880 | 2321 | Q>* | No | TOPMed | |
| rs1455875880 | 2321 | Q>E | No | TOPMed | |
| rs2145523140 | 2321 | Q>L | No | Ensembl | |
| rs2145523140 | 2321 | Q>P | No | Ensembl | |
| rs2059219147 | 2322 | P>L | No | Ensembl | |
| rs2059219113 | 2322 | P>S | No | Ensembl | |
| TCGA novel | 2323 | P>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs201369756 | 2323 | P>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs1845762160 | 2323 | P>L | No | TOPMed | |
| rs202094489 | 2324 | H>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs767644624 | 2324 | H>L | No |
ExAC TOPMed gnomAD |
|
| rs202094489 | 2324 | H>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs767644624 | 2324 | H>P | No |
ExAC TOPMed gnomAD |
|
|
rs754418509 COSM3153235 |
2324 | H>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs767644624 | 2324 | H>R | No |
ExAC TOPMed gnomAD |
|
| COSM1566439 | 2324 | H>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs202094489 | 2324 | H>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2145523225 | 2325 | S>A | No | Ensembl | |
| rs2145523225 | 2325 | S>P | No | Ensembl | |
| rs2059219324 | 2326 | S>R | No | gnomAD | |
| rs2145523247 | 2326 | S>T | No | Ensembl | |
| rs764378639 | 2327 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs764378639 | 2327 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs764378639 | 2327 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs761006654 | 2327 | P>S | No |
ExAC gnomAD |
|
| rs200876858 | 2328 | S>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2145523303 | 2329 | P>L | No | Ensembl | |
| rs2145523303 | 2329 | P>Q | No | Ensembl | |
| rs2145523299 | 2329 | P>T | No | Ensembl | |
| rs2059219435 | 2330 | R>G | No | gnomAD | |
| rs2145523317 | 2330 | R>M | No | Ensembl | |
| rs765915190 | 2331 | M>I | No |
ExAC gnomAD |
|
| rs2145523332 | 2331 | M>V | No | Ensembl | |
| rs2059219487 | 2332 | Q>* | No | Ensembl | |
| rs2145523344 | 2332 | Q>H | No | Ensembl | |
| rs2059219487 | 2332 | Q>K | No | Ensembl | |
| rs2145523339 | 2332 | Q>L | No | Ensembl | |
| rs750944383 | 2333 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs750944383 | 2333 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs750944383 | 2333 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1052215138 | 2333 | P>S | No | TOPMed | |
| rs1601642366 | 2334 | Q>H | No | Ensembl | |
| rs971573834 | 2334 | Q>R | No |
TOPMed gnomAD |
|
| rs780778684 | 2335 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs913553589 | 2335 | P>R | No | Ensembl | |
| rs780778684 | 2335 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs780778684 | 2335 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs2059219580 | 2336 | S>F | No | TOPMed | |
|
rs1413664360 RCV001768470 |
2337 | P>missing | No |
ClinVar dbSNP |
|
| rs1569122710 | 2337 | P>L | No | Ensembl | |
| rs199572356 | 2338 | H>Q | No |
1000Genomes ExAC gnomAD |
|
| rs755811743 | 2338 | H>R | No | ExAC | |
| rs2145523415 | 2338 | H>Y | No | Ensembl | |
| rs183326303 | 2339 | H>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs183326303 | 2339 | H>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2145523455 | 2340 | V>A | No | Ensembl | |
| rs2145523455 | 2340 | V>D | No | Ensembl | |
| rs558456063 | 2340 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs771860597 | 2341 | S>A | No |
ExAC TOPMed gnomAD |
|
| rs2059219805 | 2341 | S>F | No | Ensembl | |
| rs1195775224 | 2342 | P>L | No | gnomAD | |
| rs1195775224 | 2342 | P>Q | No | gnomAD | |
| rs1486126836 | 2342 | P>S | No | gnomAD | |
| rs1486126836 | 2342 | P>T | No | gnomAD | |
| rs1231143479 | 2343 | Q>H | No | gnomAD | |
| rs2145523516 | 2343 | Q>R | No | Ensembl | |
| rs2145523530 | 2345 | S>C | No | Ensembl | |
| rs1260684837 | 2345 | S>N | No | gnomAD | |
| rs775676666 | 2345 | S>R | No |
ExAC gnomAD |
|
| rs1260684837 | 2345 | S>T | No | gnomAD | |
| rs2059219911 | 2346 | S>A | No | Ensembl | |
| rs2145523565 | 2347 | P>Q | No | Ensembl | |
| rs2059219957 | 2347 | P>S | No | gnomAD | |
| rs2059219957 | 2347 | P>T | No | gnomAD | |
|
rs2145523559 RCV001818019 |
2348 | H>missing | No |
ClinVar dbSNP |
|
| rs1414772517 | 2348 | H>R | No | gnomAD | |
| TCGA novel | 2348 | H>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs760818192 | 2349 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs2145523581 | 2349 | P>H | No | Ensembl | |
| rs760818192 | 2349 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs764471047 | 2350 | G>A | No |
ExAC gnomAD |
|
| rs764471047 | 2350 | G>E | No |
ExAC gnomAD |
|
| rs1483701773 | 2350 | G>R | No | gnomAD | |
| rs1037843831 | 2352 | V>G | No | TOPMed | |
| rs560504491 | 2352 | V>I | No | Ensembl | |
| rs762065374 | 2353 | A>D | No |
ExAC gnomAD |
|
| rs762065374 | 2353 | A>G | No |
ExAC gnomAD |
|
| rs2145523657 | 2353 | A>T | No | Ensembl | |
| rs762065374 | 2353 | A>V | No |
ExAC gnomAD |
|
| rs750705605 | 2354 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs528018461 | 2354 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs528018461 | 2354 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs528018461 | 2354 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs750705605 | 2354 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs758977894 | 2355 | Q>K | No | ExAC | |
| rs2059220210 | 2355 | Q>R | No | TOPMed | |
| rs2145523733 | 2356 | A>D | No | Ensembl | |
| rs2145523733 | 2356 | A>G | No | Ensembl | |
| rs2059220228 | 2356 | A>P | No | Ensembl | |
| rs2059220228 | 2356 | A>S | No | Ensembl | |
| rs2059220228 | 2356 | A>T | No | Ensembl | |
| rs2145523733 | 2356 | A>V | No | Ensembl | |
| rs2145523749 | 2357 | N>H | No | Ensembl | |
| rs2145523774 | 2357 | N>K | No | Ensembl | |
| rs147304540 | 2357 | N>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs147304540 | 2357 | N>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145523749 | 2357 | N>Y | No | Ensembl | |
|
RCV000762077 rs1569122827 |
2358 | P>A | No |
ClinVar Ensembl dbSNP |
|
| rs2059220344 | 2358 | P>H | No | Ensembl | |
| rs2059220344 | 2358 | P>L | No | Ensembl | |
| rs1569122827 | 2358 | P>S | No | Ensembl | |
| rs2145523824 | 2359 | M>I | No | Ensembl | |
| rs2145523814 | 2359 | M>K | No | Ensembl | |
| rs1352526432 | 2359 | M>V | No | TOPMed | |
|
COSM479001 rs945211430 |
2360 | E>G | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 2360 | E>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2145523832 | 2360 | E>Q | No | Ensembl | |
|
rs2145523848 RCV002279755 |
2361 | Q>* | No |
ClinVar Ensembl dbSNP |
|
| rs2145523848 | 2361 | Q>E | No | Ensembl | |
| rs2145523864 | 2361 | Q>H | No | Ensembl | |
| rs2145523848 | 2361 | Q>K | No | Ensembl | |
| rs1263635747 | 2361 | Q>L | No |
TOPMed gnomAD |
|
| rs1232546842 | 2362 | G>A | No | TOPMed | |
| rs1232546842 | 2362 | G>E | No | TOPMed | |
| rs2145523871 | 2362 | G>R | No | Ensembl | |
| rs1294668388 | 2363 | H>D | No |
TOPMed gnomAD |
|
| rs1294668388 | 2363 | H>N | No |
TOPMed gnomAD |
|
| rs1397579295 | 2363 | H>R | No | Ensembl | |
| rs1294668388 | 2363 | H>Y | No |
TOPMed gnomAD |
|
| rs2145523928 | 2364 | F>S | No | Ensembl | |
| rs2145523920 | 2364 | F>V | No | Ensembl | |
| rs1288457396 | 2365 | A>D | No | gnomAD | |
| rs1288457396 | 2365 | A>G | No | gnomAD | |
| rs1288457396 | 2365 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2145523953 | 2366 | S>C | No | Ensembl | |
| rs1042242121 | 2366 | S>I | No | TOPMed | |
| rs1042242121 | 2366 | S>N | No | TOPMed | |
| rs1601642534 | 2366 | S>R | No | TOPMed | |
| rs1042242121 | 2366 | S>T | No | TOPMed | |
| rs2145523988 | 2367 | P>A | No | Ensembl | |
| rs748953233 | 2367 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs748953233 | 2367 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs748953233 | 2367 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs2145523988 | 2367 | P>S | No | Ensembl | |
| rs2145523988 | 2367 | P>T | No | Ensembl | |
| rs1283783047 | 2368 | D>E | No |
TOPMed gnomAD |
|
| rs2059220596 | 2368 | D>H | No | TOPMed | |
|
COSM4104444 rs2059220596 |
2368 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
| rs1163407374 | 2369 | Q>* | No |
TOPMed gnomAD |
|
| rs1163407374 | 2369 | Q>E | No |
TOPMed gnomAD |
|
|
rs2145524045 TCGA novel |
2369 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
|
RCV001585106 rs1163407374 |
2369 | Q>K | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs778796762 | 2369 | Q>R | No |
ExAC gnomAD |
|
|
rs745616467 COSM1661671 |
2370 | N>I | kidney [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs2145524068 | 2370 | N>K | No | Ensembl | |
| rs745616467 | 2370 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs2145524048 | 2370 | N>Y | No | Ensembl | |
| rs139208187 | 2371 | S>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs139208187 | 2371 | S>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs2059220725 | 2372 | M>I | No |
TOPMed gnomAD |
|
| rs2145524101 | 2372 | M>K | No | Ensembl | |
| rs2145524101 | 2372 | M>T | No | Ensembl | |
| rs1569122862 | 2373 | L>F | No | Ensembl | |
|
rs1569122862 TCGA novel |
2373 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2059220751 | 2373 | L>P | No | gnomAD | |
| rs1569122862 | 2373 | L>V | No | Ensembl | |
| rs768864659 | 2374 | S>A | No |
ExAC TOPMed gnomAD |
|
| rs2145524137 | 2374 | S>C | No | Ensembl | |
| rs2145524137 | 2374 | S>F | No | Ensembl | |
| rs768864659 | 2374 | S>T | No |
ExAC TOPMed gnomAD |
|
|
COSM260693 rs2145524137 |
2374 | S>Y | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2145524151 | 2375 | Q>* | No | Ensembl | |
| rs2145524151 | 2375 | Q>E | No | Ensembl | |
| rs1054360316 | 2375 | Q>H | No |
TOPMed gnomAD |
|
| rs2145524160 | 2375 | Q>L | No | Ensembl | |
| rs2145524160 | 2375 | Q>R | No | Ensembl | |
| rs2059220890 | 2376 | L>F | No | gnomAD | |
| rs776794642 | 2376 | L>H | No |
ExAC TOPMed gnomAD |
|
| rs776794642 | 2376 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs2059220890 | 2376 | L>V | No | gnomAD | |
| rs2145524198 | 2377 | A>G | No | Ensembl | |
| rs1160588664 | 2377 | A>P | No |
TOPMed gnomAD |
|
| rs1160588664 | 2377 | A>T | No |
TOPMed gnomAD |
|
| rs2145524198 | 2377 | A>V | No | Ensembl | |
| rs753198647 | 2378 | S>C | No | gnomAD | |
| rs753198647 | 2378 | S>G | No | gnomAD | |
| rs2145524228 | 2378 | S>N | No | Ensembl | |
| rs2145524228 | 2378 | S>T | No | Ensembl | |
| rs202225885 | 2379 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs886057571 | 2379 | N>I | No |
TOPMed gnomAD |
|
| rs2059221019 | 2379 | N>K | No | Ensembl | |
| rs886057571 | 2379 | N>T | No |
TOPMed gnomAD |
|
| rs2145524260 | 2380 | P>A | No | Ensembl | |
| rs587778259 | 2380 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1283234127 | 2381 | G>A | No |
TOPMed gnomAD |
|
| rs2145524277 | 2381 | G>C | No | Ensembl | |
| rs1283234127 | 2381 | G>D | No |
TOPMed gnomAD |
|
| rs2145524277 | 2381 | G>R | No | Ensembl | |
| rs2145524277 | 2381 | G>S | No | Ensembl | |
| rs1283234127 | 2381 | G>V | No |
TOPMed gnomAD |
|
| rs2145524317 | 2382 | M>I | No | Ensembl | |
| rs1569122904 | 2382 | M>L | No | Ensembl | |
| rs201231297 | 2382 | M>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2145524342 | 2383 | A>E | No | Ensembl | |
| rs2145524342 | 2383 | A>G | No | Ensembl | |
| rs2059221143 | 2383 | A>P | No | Ensembl | |
| rs2059221143 | 2383 | A>S | No | Ensembl | |
| rs2059221143 | 2383 | A>T | No | Ensembl | |
| rs2145524342 | 2383 | A>V | No | Ensembl | |
| rs766974481 | 2384 | N>D | No | ExAC | |
| rs766974481 | 2384 | N>H | No | ExAC | |
| rs2145524365 | 2384 | N>I | No | Ensembl | |
| rs1306502708 | 2384 | N>K | No | gnomAD | |
| rs2145524365 | 2384 | N>S | No | Ensembl | |
| rs2145524365 | 2384 | N>T | No | Ensembl | |
| rs759977358 | 2385 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs752065194 | 2385 | L>V | No |
ExAC gnomAD |
|
| rs2145524425 | 2386 | H>D | No | Ensembl | |
| rs374221821 | 2386 | H>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs374221821 | 2386 | H>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs374221821 | 2386 | H>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145524425 | 2386 | H>Y | No | Ensembl | |
| rs1270420653 | 2387 | G>A | No |
TOPMed gnomAD |
|
| rs1270420653 | 2387 | G>D | No |
TOPMed gnomAD |
|
| rs778405676 | 2387 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs778405676 | 2387 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs1270420653 | 2387 | G>V | No |
TOPMed gnomAD |
|
| rs1180547319 | 2388 | A>G | No |
TOPMed gnomAD |
|
| rs2145524460 | 2388 | A>P | No | Ensembl | |
| rs2145524460 | 2388 | A>T | No | Ensembl | |
| rs1180547319 | 2388 | A>V | No |
TOPMed gnomAD |
|
| rs2059221375 | 2389 | S>C | No | TOPMed | |
| rs2059221375 | 2389 | S>G | No | TOPMed | |
| rs2145524488 | 2389 | S>N | No | Ensembl | |
| rs2059221375 | 2389 | S>R | No | TOPMed | |
| rs150845823 | 2389 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145524488 | 2389 | S>T | No | Ensembl | |
| rs2145524504 | 2390 | A>G | No | Ensembl | |
| rs200567960 | 2390 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs2145524504 | 2390 | A>V | No | Ensembl | |
| rs2145524514 | 2391 | T>A | No | Ensembl | |
| rs139279818 | 2391 | T>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs139279818 | 2391 | T>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145524514 | 2391 | T>P | No | Ensembl | |
| rs139279818 | 2391 | T>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145524514 | 2391 | T>S | No | Ensembl | |
| rs2145524554 | 2392 | D>E | No | Ensembl | |
| rs975210038 | 2392 | D>H | No |
TOPMed gnomAD |
|
| rs975210038 | 2392 | D>N | No |
TOPMed gnomAD |
|
| rs377508897 | 2393 | L>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs2145524582 | 2394 | G>* | No | Ensembl | |
| rs1168722441 | 2394 | G>A | No |
TOPMed gnomAD |
|
| rs1168722441 | 2394 | G>E | No |
TOPMed gnomAD |
|
| rs2145524582 | 2394 | G>R | No | Ensembl | |
| rs773300219 | 2395 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs763165733 | 2395 | L>H | No |
ExAC TOPMed gnomAD |
|
| rs763165733 | 2395 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs773300219 | 2395 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs764376096 | 2396 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs764376096 | 2396 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs2145524633 | 2396 | S>R | No | Ensembl | |
| rs2145524640 | 2397 | T>P | No | Ensembl | |
| rs2145524640 | 2397 | T>S | No | Ensembl | |
| rs2145524646 | 2397 | T>S | No | Ensembl | |
| rs2145524671 | 2398 | D>E | No | Ensembl | |
| rs761212935 | 2398 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs540813452 | 2398 | D>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs540813452 | 2398 | D>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs761212935 | 2398 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs540813452 | 2398 | D>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1254835479 | 2399 | N>D | No |
TOPMed gnomAD |
|
| rs765009722 | 2399 | N>I | No |
ExAC gnomAD |
|
| rs1318815266 | 2399 | N>K | No |
TOPMed gnomAD |
|
| rs765009722 | 2399 | N>S | No |
ExAC gnomAD |
|
| rs765009722 | 2399 | N>T | No |
ExAC gnomAD |
|
| rs2145524705 | 2400 | S>* | No | Ensembl | |
| rs2145524697 | 2400 | S>P | No | Ensembl | |
| rs2145524697 | 2400 | S>T | No | Ensembl | |
| rs1197018785 | 2401 | D>E | No | gnomAD | |
| rs758011044 | 2401 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs2145524720 | 2401 | D>H | No | Ensembl | |
| rs2145524720 | 2401 | D>N | No | Ensembl | |
| rs758011044 | 2401 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs780017165 | 2402 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs2145524743 | 2402 | L>M | No | Ensembl | |
| rs2145524748 | 2402 | L>S | No | Ensembl | |
| rs1342501435 | 2403 | N>I | No | TOPMed | |
| rs751362898 | 2403 | N>K | No |
ExAC gnomAD |
|
| rs1342501435 | 2403 | N>S | No | TOPMed | |
| rs2145524767 | 2403 | N>Y | No | Ensembl | |
| rs2059221864 | 2404 | S>* | No | Ensembl | |
| rs2059221851 | 2404 | S>A | No | TOPMed | |
| rs2059221864 | 2404 | S>L | No | Ensembl | |
| rs2059221851 | 2404 | S>T | No | TOPMed | |
| rs796194082 | 2405 | N>D | No |
1000Genomes TOPMed gnomAD |
|
| rs2145524810 | 2405 | N>I | No | Ensembl | |
| rs2145524810 | 2405 | N>S | No | Ensembl | |
| rs2145524810 | 2405 | N>T | No | Ensembl | |
| rs796194082 | 2405 | N>Y | No |
1000Genomes TOPMed gnomAD |
|
| rs1172315931 | 2406 | L>F | No | gnomAD | |
| rs200553663 | 2406 | L>H | No |
1000Genomes ExAC |
|
| TCGA novel | 2406 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs200553663 | 2406 | L>P | No |
1000Genomes ExAC |
|
| rs1424813619 | 2407 | S>* | No |
TOPMed gnomAD |
|
| rs2145524849 | 2407 | S>T | No | Ensembl | |
| rs2059222058 | 2408 | Q>E | No | Ensembl | |
| rs2145524889 | 2408 | Q>H | No | Ensembl | |
| rs2145524882 | 2408 | Q>R | No | Ensembl | |
| rs748325077 | 2409 | S>G | No |
ExAC gnomAD |
|
| rs2145524901 | 2409 | S>R | No | Ensembl | |
| rs2145524920 | 2410 | T>A | No | Ensembl | |
| rs1168095526 | 2410 | T>I | No | gnomAD | |
| rs1168095526 | 2410 | T>K | No | gnomAD | |
| rs1168095526 | 2410 | T>R | No | gnomAD | |
| rs976178904 | 2411 | L>I | No |
TOPMed gnomAD |
|
| rs2145524963 | 2411 | L>Q | No | Ensembl | |
| rs976178904 | 2411 | L>V | No |
TOPMed gnomAD |
|
| rs149981675 | 2412 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs577523911 | 2412 | D>H | No |
1000Genomes ExAC gnomAD |
|
| rs577523911 | 2412 | D>N | No |
1000Genomes ExAC gnomAD |
|
| rs2145524976 | 2412 | D>V | No | Ensembl | |
| rs1367534806 | 2413 | I>K | No | gnomAD | |
| rs977854682 | 2413 | I>M | No | Ensembl | |
| rs1367534806 | 2413 | I>T | No | gnomAD | |
| rs201882119 | 2414 | H>D | No | Ensembl | |
| rs201882119 | 2414 | H>N | No | Ensembl | |
| rs1329691393 | 2414 | H>Q | No |
TOPMed gnomAD |
|
| rs749490387 | 2414 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs201882119 | 2414 | H>Y | No | Ensembl | |
| rs2145525026 | 2415 | H>K | No | Ensembl | |
| rs1601642812 | 2415 | H>L | No | Ensembl | |
| rs587783622 | 2415 | H>Y | No | Ensembl |
4 associated diseases with Q09472
[MIM: 613684]: Rubinstein-Taybi syndrome 2 (RSTS2)
A disorder characterized by craniofacial abnormalities, postnatal growth deficiency, broad thumbs, broad big toes, intellectual disability and a propensity for development of malignancies. Some individuals with RSTS2 have less severe mental impairment, more severe microcephaly, and a greater degree of changes in facial bone structure than RSTS1 patients. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 618333]: Menke-Hennekam syndrome 2 (MKHK2)
A form of Menke-Hennekam syndrome, a congenital autosomal dominant disease characterized by developmental delay, growth retardation, and craniofacial dysmorphism. Patients have intellectual disability of variable severity, speech delay, autistic behavior, short stature and microcephaly. Main facial characteristics include short palpebral fissures, telecanthi, depressed nasal ridge, short nose, anteverted nares, short columella and long philtrum. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by craniofacial abnormalities, postnatal growth deficiency, broad thumbs, broad big toes, intellectual disability and a propensity for development of malignancies. Some individuals with RSTS2 have less severe mental impairment, more severe microcephaly, and a greater degree of changes in facial bone structure than RSTS1 patients. . Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of Menke-Hennekam syndrome, a congenital autosomal dominant disease characterized by developmental delay, growth retardation, and craniofacial dysmorphism. Patients have intellectual disability of variable severity, speech delay, autistic behavior, short stature and microcephaly. Main facial characteristics include short palpebral fissures, telecanthi, depressed nasal ridge, short nose, anteverted nares, short columella and long philtrum. . Note=The disease is caused by variants affecting the gene represented in this entry.
8 regional properties for Q09472
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Ubiquitin-like domain | 1 - 76 | IPR000626 |
| domain | IBR domain | 312 - 376 | IPR002867-1 |
| domain | IBR domain | 400 - 456 | IPR002867-2 |
| domain | RING/Ubox-like zinc-binding domain | 227 - 317 | IPR041170 |
| domain | Parkin, RING/Ubox like zinc-binding domain | 144 - 216 | IPR041565 |
| domain | TRIAD supradomain | 233 - 464 | IPR044066 |
| domain | E3 ubiquitin-protein ligase parkin, BRcat domain | 300 - 380 | IPR047534 |
| domain | E3 ubiquitin-protein ligase parkin, RING finger, HC subclass | 235 - 293 | IPR047535 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.1.48 | Transferring groups other than amino-acyl groups |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR13808 | CBP/P300-RELATED |
| PANTHER Subfamily | PTHR13808:SF29 | HISTONE ACETYLTRANSFERASE P300 |
| PANTHER Protein Class | histone modifying enzyme | |
| PANTHER Pathway Category |
TGF-beta signaling pathway Co-activators corepressors p53 pathway CBP Wnt signaling pathway CBP Gonadotropin-releasing hormone receptor pathway p300 Transcription regulation by bZIP transcription factor CBP/P300 Heterotrimeric G-protein signaling pathway-Gi alpha and Gs alpha mediated pathway CREB Huntington disease CBP p53 pathway P300 |
|
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| histone acetyltransferase complex | A protein complex that possesses histone acetyltransferase activity. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| protein-DNA complex | A macromolecular complex containing both protein and DNA molecules. |
| transcription regulator complex | A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription. |
37 GO annotations of molecular function
| Name | Definition |
|---|---|
| acetylation-dependent protein binding | Binding to a protein upon acetylation of the target protein. |
| acetyltransferase activity | Catalysis of the transfer of an acetyl group to an acceptor molecule. |
| acyltransferase activity | Catalysis of the transfer of an acyl group from one compound (donor) to another (acceptor). |
| beta-catenin binding | Binding to a catenin beta subunit. |
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| chromatin DNA binding | Binding to DNA that is assembled into chromatin. |
| damaged DNA binding | Binding to damaged DNA. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| DNA-binding transcription factor binding | Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription. |
| histone acetyltransferase activity | Catalysis of the reaction |
| histone butyryltransferase activity | Catalysis of the reaction |
| histone crotonyltransferase activity | Catalysis of the reaction |
| histone H2B acetyltransferase activity | Catalysis of the reaction |
| histone H3 acetyltransferase activity | Catalysis of the reaction |
| histone H3K122 acetyltransferase activity | Catalysis of the reaction |
| histone H3K18 acetyltransferase activity | Catalysis of the reaction |
| histone H3K27 acetyltransferase activity | Catalysis of the reaction |
| histone H4 acetyltransferase activity | Catalysis of the reaction |
| histone lactyltransferase activity | Catalysis of the reaction |
| lysine N-acetyltransferase activity, acting on acetyl phosphate as donor | Catalysis of the reaction |
| NF-kappaB binding | Binding to NF-kappaB, a transcription factor for eukaryotic RNA polymerase II promoters. |
| nuclear androgen receptor binding | Binding to a nuclear androgen receptor. |
| nuclear receptor binding | Binding to a nuclear receptor protein. Nuclear receptor proteins are DNA-binding transcription factors which are regulated by binding to a ligand. |
| p53 binding | Binding to one of the p53 family of proteins. |
| peptide 2-hydroxyisobutyryltransferase activity | Catalysis of the reaction |
| peptide butyryltransferase activity | Catalysis of the reaction |
| peptide N-acetyltransferase activity | Catalysis of the acetylation of an amino acid residue of a peptide or protein, according to the reaction |
| peptide-lysine-N-acetyltransferase activity | Catalysis of the reaction |
| pre-mRNA intronic binding | Binding to an intronic sequence of a pre-messenger RNA (pre-mRNA). |
| protein propionyltransferase activity | Catalysis of the reaction |
| RNA polymerase II-specific DNA-binding transcription factor binding | Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription. |
| STAT family protein binding | Binding to a member of the signal transducers and activators of transcription (STAT) protein family. STATs are, as the name indicates, both signal transducers and transcription factors. STATs are activated by cytokines and some growth factors and thus control important biological processes including cell growth, cell differentiation, apoptosis and immune responses. |
| tau protein binding | Binding to tau protein. tau is a microtubule-associated protein, implicated in Alzheimer's disease, Down Syndrome and ALS. |
| transcription coactivator activity | A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
| transcription coactivator binding | Binding to a transcription coactivator, a protein involved in positive regulation of transcription via protein-protein interactions with transcription factors and other proteins that positively regulate transcription. Transcription coactivators do not bind DNA directly, but rather mediate protein-protein interactions between activating transcription factors and the basal transcription machinery. |
| transcription coregulator binding | Binding to a transcription coregulator, a protein involved in regulation of transcription via protein-protein interactions with transcription factors and other transcription regulatory proteins. Cofactors do not bind DNA directly, but rather mediate protein-protein interactions between regulatory transcription factors and the basal transcription machinery. |
| zinc ion binding | Binding to a zinc ion (Zn). |
60 GO annotations of biological process
| Name | Definition |
|---|---|
| animal organ morphogenesis | Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. |
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| B cell differentiation | The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. |
| behavioral defense response | A behavioral response seeking to protect an organism from an a perceived external threat to that organism. |
| canonical NF-kappaB signal transduction | The process in which a signal is passed on to downstream components within the cell through the I-kappaB-kinase (IKK)-dependent activation of NF-kappaB. The cascade begins with activation of a trimeric IKK complex (consisting of catalytic kinase subunits IKKalpha and/or IKKbeta, and the regulatory scaffold protein NEMO) and ends with the regulation of transcription of target genes by NF-kappaB. In a resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription. |
| cell cycle | The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. |
| cellular response to leucine | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a leucine stimulus. |
| cellular response to nutrient levels | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of nutrients. |
| cellular response to UV | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. |
| circadian rhythm | Any biological process in an organism that recurs with a regularity of approximately 24 hours. |
| face morphogenesis | The process in which the anatomical structures of the face are generated and organized. The face is the ventral division of the head. |
| fat cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of an adipocyte, an animal connective tissue cell specialized for the synthesis and storage of fat. |
| heart development | The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. |
| internal peptidyl-lysine acetylation | The addition of an acetyl group to a non-terminal lysine residue in a protein. |
| internal protein amino acid acetylation | The addition of an acetyl group to a non-terminal amino acid in a protein. |
| intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage, and ends when the execution phase of apoptosis is triggered. |
| learning or memory | The acquisition and processing of information and/or the storage and retrieval of this information over time. |
| lung development | The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax. |
| macrophage derived foam cell differentiation | The process in which a monocyte acquires the specialized features of a foam cell. A foam cell is a type of cell containing lipids in small vacuoles and typically seen in atherosclerotic lesions, as well as other conditions. |
| megakaryocyte development | The process whose specific outcome is the progression of a megakaryocyte cell over time, from its formation to the mature structure. Megakaryocyte development does not include the steps involved in committing a cell to a megakaryocyte fate. A megakaryocyte is a giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow. |
| multicellular organism growth | The increase in size or mass of an entire multicellular organism, as opposed to cell growth. |
| N-terminal peptidyl-lysine acetylation | The acetylation of the N-terminal lysine of proteins. |
| negative regulation of autophagy | Any process that stops, prevents, or reduces the frequency, rate or extent of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm. |
| negative regulation of gluconeogenesis | Any process that stops, prevents, or reduces the frequency, rate or extent of gluconeogenesis. |
| negative regulation of protein-containing complex assembly | Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex assembly. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| peptidyl-lysine acetylation | The acetylation of peptidyl-lysine. |
| peptidyl-lysine butyrylation | The butyrylation of a lysine residue in a protein. Butyryl is the univalent radical C3H7COO- derived from butyric acid. |
| peptidyl-lysine crotonylation | The crotonylation of a lysine residue in a protein. Crotonyl is the univalent radical CH3-CH=CH-CO- derived from crotonic acid. |
| peptidyl-lysine propionylation | The propionylation of peptidyl-lysine. |
| platelet formation | The process in which platelets bud from long processes extended by megakaryocytes. |
| positive regulation by host of viral transcription | Any process in which a host organism activates or increases the frequency, rate or extent of viral transcription, the synthesis of either RNA on a template of DNA or DNA on a template of RNA. |
| positive regulation of DNA-binding transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of neuron projection development | Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| positive regulation of protein import into nucleus | Any process that activates or increases the frequency, rate or extent of movement of proteins from the cytoplasm into the nucleus. |
| positive regulation of receptor signaling pathway via JAK-STAT | Any process that activates or increases the frequency, rate or extent of the JAK-STAT signaling pathway activity. |
| positive regulation of TORC1 signaling | Any process that activates or increases the frequency, rate or extent of TORC1 signaling. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| positive regulation of transforming growth factor beta receptor signaling pathway | Any process that activates or increases the frequency, rate or extent of TGF-beta receptor signaling pathway activity. |
| protein acetylation | The addition of an acetyl group to a protein amino acid. An acetyl group is CH3CO-, derived from acetic acid. |
| protein destabilization | Any process that decreases the stability of a protein, making it more vulnerable to degradative processes or aggregation. |
| protein stabilization | Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation. |
| regulation of androgen receptor signaling pathway | Any process that modulates the rate, frequency, or extent of the androgen receptor signaling pathway. |
| regulation of autophagy | Any process that modulates the frequency, rate or extent of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm. |
| regulation of cellular response to heat | Any process that modulates the frequency, rate or extent of cellular response to heat. |
| regulation of glycolytic process | Any process that modulates the frequency, rate or extent of glycolysis. |
| regulation of mitochondrion organization | Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. |
| regulation of signal transduction by p53 class mediator | Any process that modulates the frequency, rate or extent of signal transduction by p53 class mediator. |
| regulation of tubulin deacetylation | Any process that modulates the frequency, rate or extent of tubulin deacetylation. Tubulin deacetylation is the removal of an acetyl group from a protein amino acid. |
| response to estrogen | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by an estrogen, C18 steroid hormones that can stimulate the development of female sexual characteristics. |
| response to hypoxia | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
| skeletal muscle tissue development | The developmental sequence of events leading to the formation of adult skeletal muscle tissue. The main events are |
| somitogenesis | The formation of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo. |
| stimulatory C-type lectin receptor signaling pathway | The series of molecular signals initiated by the binding of C-type lectin to its receptor on the surface of a target cell, and resulting in cellular activation. |
| swimming | Self-propelled movement of an organism from one location to another through water, often by means of active fin movement. |
| thigmotaxis | The directed movement of an animal in response to touch. |
| transcription initiation-coupled chromatin remodeling | An epigenetic mechanism of regulation of gene expression that involves chromatin remodeling to capacitate gene expression by either modifying the chromatin fiber, the nucleosomal histones, or the DNA. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q92793 | CREBBP | CREB-binding protein | Homo sapiens (Human) | SS |
| P45481 | Crebbp | Histone lysine acetyltransferase CREBBP | Mus musculus (Mouse) | SS |
| B2RWS6 | Ep300 | Histone acetyltransferase p300 | Mus musculus (Mouse) | SS |
| Q6JHU9 | Crebbp | Histone lysine acetyltransferase CREBBP | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAENVVEPGP | PSAKRPKLSS | PALSASASDG | TDFGSLFDLE | HDLPDELINS | TELGLTNGGD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| INQLQTSLGM | VQDAASKHKQ | LSELLRSGSS | PNLNMGVGGP | GQVMASQAQQ | SSPGLGLINS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MVKSPMTQAG | LTSPNMGMGT | SGPNQGPTQS | TGMMNSPVNQ | PAMGMNTGMN | AGMNPGMLAA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GNGQGIMPNQ | VMNGSIGAGR | GRQNMQYPNP | GMGSAGNLLT | EPLQQGSPQM | GGQTGLRGPQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PLKMGMMNNP | NPYGSPYTQN | PGQQIGASGL | GLQIQTKTVL | SNNLSPFAMD | KKAVPGGGMP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NMGQQPAPQV | QQPGLVTPVA | QGMGSGAHTA | DPEKRKLIQQ | QLVLLLHAHK | CQRREQANGE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VRQCNLPHCR | TMKNVLNHMT | HCQSGKSCQV | AHCASSRQII | SHWKNCTRHD | CPVCLPLKNA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GDKRNQQPIL | TGAPVGLGNP | SSLGVGQQSA | PNLSTVSQID | PSSIERAYAA | LGLPYQVNQM |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PTQPQVQAKN | QQNQQPGQSP | QGMRPMSNMS | ASPMGVNGGV | GVQTPSLLSD | SMLHSAINSQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NPMMSENASV | PSLGPMPTAA | QPSTTGIRKQ | WHEDITQDLR | NHLVHKLVQA | IFPTPDPAAL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KDRRMENLVA | YARKVEGDMY | ESANNRAEYY | HLLAEKIYKI | QKELEEKRRT | RLQKQNMLPN |
| 670 | 680 | 690 | 700 | 710 | 720 |
| AAGMVPVSMN | PGPNMGQPQP | GMTSNGPLPD | PSMIRGSVPN | QMMPRITPQS | GLNQFGQMSM |
| 730 | 740 | 750 | 760 | 770 | 780 |
| AQPPIVPRQT | PPLQHHGQLA | QPGALNPPMG | YGPRMQQPSN | QGQFLPQTQF | PSQGMNVTNI |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PLAPSSGQAP | VSQAQMSSSS | CPVNSPIMPP | GSQGSHIHCP | QLPQPALHQN | SPSPVPSRTP |
| 850 | 860 | 870 | 880 | 890 | 900 |
| TPHHTPPSIG | AQQPPATTIP | APVPTPPAMP | PGPQSQALHP | PPRQTPTPPT | TQLPQQVQPS |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LPAAPSADQP | QQQPRSQQST | AASVPTPTAP | LLPPQPATPL | SQPAVSIEGQ | VSNPPSTSST |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| EVNSQAIAEK | QPSQEVKMEA | KMEVDQPEPA | DTQPEDISES | KVEDCKMEST | ETEERSTELK |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| TEIKEEEDQP | STSATQSSPA | PGQSKKKIFK | PEELRQALMP | TLEALYRQDP | ESLPFRQPVD |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| PQLLGIPDYF | DIVKSPMDLS | TIKRKLDTGQ | YQEPWQYVDD | IWLMFNNAWL | YNRKTSRVYK |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| YCSKLSEVFE | QEIDPVMQSL | GYCCGRKLEF | SPQTLCCYGK | QLCTIPRDAT | YYSYQNRYHF |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| CEKCFNEIQG | ESVSLGDDPS | QPQTTINKEQ | FSKRKNDTLD | PELFVECTEC | GRKMHQICVL |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| HHEIIWPAGF | VCDGCLKKSA | RTRKENKFSA | KRLPSTRLGT | FLENRVNDFL | RRQNHPESGE |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| VTVRVVHASD | KTVEVKPGMK | ARFVDSGEMA | ESFPYRTKAL | FAFEEIDGVD | LCFFGMHVQE |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| YGSDCPPPNQ | RRVYISYLDS | VHFFRPKCLR | TAVYHEILIG | YLEYVKKLGY | TTGHIWACPP |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| SEGDDYIFHC | HPPDQKIPKP | KRLQEWYKKM | LDKAVSERIV | HDYKDIFKQA | TEDRLTSAKE |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| LPYFEGDFWP | NVLEESIKEL | EQEEEERKRE | ENTSNESTDV | TKGDSKNAKK | KNNKKTSKNK |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| SSLSRGNKKK | PGMPNVSNDL | SQKLYATMEK | HKEVFFVIRL | IAGPAANSLP | PIVDPDPLIP |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| CDLMDGRDAF | LTLARDKHLE | FSSLRRAQWS | TMCMLVELHT | QSQDRFVYTC | NECKHHVETR |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| WHCTVCEDYD | LCITCYNTKN | HDHKMEKLGL | GLDDESNNQQ | AAATQSPGDS | RRLSIQRCIQ |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| SLVHACQCRN | ANCSLPSCQK | MKRVVQHTKG | CKRKTNGGCP | ICKQLIALCC | YHAKHCQENK |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| CPVPFCLNIK | QKLRQQQLQH | RLQQAQMLRR | RMASMQRTGV | VGQQQGLPSP | TPATPTTPTG |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| QQPTTPQTPQ | PTSQPQPTPP | NSMPPYLPRT | QAAGPVSQGK | AAGQVTPPTP | PQTAQPPLPG |
| 1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
| PPPAAVEMAM | QIQRAAETQR | QMAHVQIFQR | PIQHQMPPMT | PMAPMGMNPP | PMTRGPSGHL |
| 1990 | 2000 | 2010 | 2020 | 2030 | 2040 |
| EPGMGPTGMQ | QQPPWSQGGL | PQPQQLQSGM | PRPAMMSVAQ | HGQPLNMAPQ | PGLGQVGISP |
| 2050 | 2060 | 2070 | 2080 | 2090 | 2100 |
| LKPGTVSQQA | LQNLLRTLRS | PSSPLQQQQV | LSILHANPQL | LAAFIKQRAA | KYANSNPQPI |
| 2110 | 2120 | 2130 | 2140 | 2150 | 2160 |
| PGQPGMPQGQ | PGLQPPTMPG | QQGVHSNPAM | QNMNPMQAGV | QRAGLPQQQP | QQQLQPPMGG |
| 2170 | 2180 | 2190 | 2200 | 2210 | 2220 |
| MSPQAQQMNM | NHNTMPSQFR | DILRRQQMMQ | QQQQQGAGPG | IGPGMANHNQ | FQQPQGVGYP |
| 2230 | 2240 | 2250 | 2260 | 2270 | 2280 |
| PQQQQRMQHH | MQQMQQGNMG | QIGQLPQALG | AEAGASLQAY | QQRLLQQQMG | SPVQPNPMSP |
| 2290 | 2300 | 2310 | 2320 | 2330 | 2340 |
| QQHMLPNQAQ | SPHLQGQQIP | NSLSNQVRSP | QPVPSPRPQS | QPPHSSPSPR | MQPQPSPHHV |
| 2350 | 2360 | 2370 | 2380 | 2390 | 2400 |
| SPQTSSPHPG | LVAAQANPME | QGHFASPDQN | SMLSQLASNP | GMANLHGASA | TDLGLSTDNS |
| 2410 | |||||
| DLNSNLSQST | LDIH |