Q92793
SS
Gene name |
CREBBP (CBP) |
Protein name |
CREB-binding protein |
Names |
Histone lysine acetyltransferase CREBBP , EC 2.3.1.48 , Protein lactyltransferas CREBBP , EC 2.3.1.- , Protein-lysine acetyltransferase CREBBP , EC 2.3.1.- |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1387 |
EC number |
2.3.1.48: Transferring groups other than amino-acyl groups |
Protein Class |
|
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 |
1321-1701 (HAT domain) |
Relief mechanism |
PTM |
Assay |
|
Target domain |
1321-1701 (HAT domain) |
Relief mechanism |
PTM |
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
132 structures for Q92793
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1JSP | NMR | - | B | 1081-1197 | PDB |
| 1LIQ | NMR | - | A | 376-402 | PDB |
| 1RDT | X-ray | 240 A | E | 58-80 | PDB |
| 1WO3 | NMR | - | A | 387-398 | PDB |
| 1WO4 | NMR | - | A | 387-398 | PDB |
| 1WO5 | NMR | - | A | 387-398 | PDB |
| 1WO6 | NMR | - | A | 376-400 | PDB |
| 1WO7 | NMR | - | A | 376-400 | PDB |
| 1ZOQ | X-ray | 237 A | C/D | 2065-2111 | PDB |
| 2D82 | NMR | - | A | 1081-1197 | PDB |
| 2KJE | NMR | - | A | 1763-1854 | PDB |
| 2KWF | NMR | - | A | 587-673 | PDB |
| 2L84 | NMR | - | A | 1081-1197 | PDB |
| 2L85 | NMR | - | A | 1081-1197 | PDB |
| 2LXS | NMR | - | A | 587-673 | PDB |
| 2LXT | NMR | - | A | 587-673 | PDB |
| 2N1A | NMR | - | B | 1699-1751 | PDB |
| 2RNY | NMR | - | A | 1081-1197 | PDB |
| 3DWY | X-ray | 198 A | A/B | 1081-1197 | PDB |
| 3P1C | X-ray | 182 A | A/B | 1081-1197 | PDB |
| 3P1D | X-ray | 186 A | A/B | 1081-1197 | PDB |
| 3P1E | X-ray | 180 A | A/B | 1081-1197 | PDB |
| 3P1F | X-ray | 163 A | A/B | 1081-1197 | PDB |
| 3SVH | X-ray | 180 A | A/B | 1081-1197 | PDB |
| 4A9K | X-ray | 181 A | A/B | 1081-1197 | PDB |
| 4N3W | X-ray | 190 A | A | 1080-1316 | PDB |
| 4N4F | X-ray | 183 A | A | 1080-1316 | PDB |
| 4NR4 | X-ray | 169 A | A/B | 1081-1197 | PDB |
| 4NR5 | X-ray | 166 A | A | 1081-1197 | PDB |
| 4NR6 | X-ray | 166 A | A | 1081-1197 | PDB |
| 4NR7 | X-ray | 120 A | A | 1081-1197 | PDB |
| 4NYV | X-ray | 183 A | A/B/C/D | 1081-1197 | PDB |
| 4NYW | X-ray | 143 A | A | 1081-1197 | PDB |
| 4NYX | X-ray | 110 A | A | 1081-1197 | PDB |
| 4OUF | X-ray | 140 A | A/B | 1082-1197 | PDB |
| 4TQN | X-ray | 170 A | A | 1081-1197 | PDB |
| 4TS8 | X-ray | 200 A | A | 1081-1197 | PDB |
| 4WHU | X-ray | 211 A | A | 1081-1197 | PDB |
| 4YK0 | X-ray | 165 A | A/B/C/D | 1083-1196 | PDB |
| 5CGP | X-ray | 196 A | A | 1081-1197 | PDB |
| 5DBM | X-ray | 186 A | A/B/C | 1082-1197 | PDB |
| 5EIC | X-ray | 150 A | A/B | 1081-1197 | PDB |
| 5ENG | X-ray | 130 A | A | 1081-1197 | PDB |
| 5EP7 | X-ray | 120 A | A | 1081-1197 | PDB |
| 5GH9 | X-ray | 145 A | A | 1081-1196 | PDB |
| 5H85 | X-ray | 170 A | A | 1081-1197 | PDB |
| 5I83 | X-ray | 135 A | A | 1082-1197 | PDB |
| 5I86 | X-ray | 105 A | A/B | 1082-1197 | PDB |
| 5I89 | X-ray | 107 A | A | 1082-1197 | PDB |
| 5I8B | X-ray | 152 A | A | 1081-1312 | PDB |
| 5I8G | X-ray | 141 A | A | 1081-1312 | PDB |
| 5J0D | X-ray | 105 A | A | 1081-1197 | PDB |
| 5JEM | X-ray | 250 A | C/D/F/H | 2065-2111 | PDB |
| 5KTU | X-ray | 138 A | A/B | 1082-1197 | PDB |
| 5KTW | X-ray | 109 A | A/B/C | 1085-1194 | PDB |
| 5KTX | X-ray | 127 A | A | 1085-1194 | PDB |
| 5LPJ | X-ray | 165 A | A | 1081-1197 | PDB |
| 5LPL | X-ray | 165 A | A | 1081-1197 | PDB |
| 5MME | X-ray | 135 A | A/B | 1081-1197 | PDB |
| 5MMG | X-ray | 123 A | A | 1081-1197 | PDB |
| 5MPK | X-ray | 190 A | A/B | 1081-1197 | PDB |
| 5MPN | X-ray | 123 A | A | 1081-1197 | PDB |
| 5MPZ | X-ray | 140 A | A | 1081-1197 | PDB |
| 5MQE | X-ray | 165 A | A/B | 1081-1197 | PDB |
| 5MQG | X-ray | 135 A | A/B | 1081-1197 | PDB |
| 5MQK | X-ray | 153 A | A/B | 1081-1197 | PDB |
| 5NLK | X-ray | 180 A | A | 1081-1197 | PDB |
| 5NRW | X-ray | 170 A | A | 1081-1197 | PDB |
| 5NU3 | X-ray | 175 A | A | 1081-1197 | PDB |
| 5OWK | X-ray | 125 A | A | 1081-1197 | PDB |
| 5SVH | X-ray | 205 A | A | 587-673 | PDB |
| 5TB6 | X-ray | 179 A | A | 1081-1197 | PDB |
| 5W0E | X-ray | 141 A | A | 1082-1197 | PDB |
| 5W0F | X-ray | 160 A | A | 1082-1197 | PDB |
| 5W0L | X-ray | 155 A | A/B | 1082-1197 | PDB |
| 5W0Q | X-ray | 170 A | A | 1082-1197 | PDB |
| 5XXH | X-ray | 162 A | A | 1081-1197 | PDB |
| 6ALB | X-ray | 205 A | A | 1081-1312 | PDB |
| 6ALC | X-ray | 139 A | A/B | 1085-1196 | PDB |
| 6AXQ | X-ray | 130 A | A/B/C/D | 1085-1196 | PDB |
| 6AY3 | X-ray | 139 A | A/B | 1083-1197 | PDB |
| 6AY5 | X-ray | 144 A | A | 1083-1197 | PDB |
| 6DMK | X-ray | 166 A | A | 1083-1195 | PDB |
| 6ES5 | NMR | - | B | 2061-2105 | PDB |
| 6ES6 | NMR | - | B | 2061-2108 | PDB |
| 6ES7 | NMR | - | B | 2061-2109 | PDB |
| 6FQO | X-ray | 135 A | A/B | 1081-1197 | PDB |
| 6FQT | X-ray | 180 A | A | 1081-1197 | PDB |
| 6FQU | X-ray | 143 A | A | 1081-1197 | PDB |
| 6FR0 | X-ray | 150 A | A/B | 1081-1197 | PDB |
| 6FRF | X-ray | 210 A | A/B/C/D | 1081-1197 | PDB |
| 6LQX | X-ray | 246 A | A/B/C/D | 1082-1196 | PDB |
| 6M64 | X-ray | 145 A | B/D/F | 1951-1973 | PDB |
| 6QST | X-ray | 210 A | A/B/C/D | 1081-1197 | PDB |
| 6SQE | X-ray | 151 A | A | 1081-1197 | PDB |
| 6SQF | X-ray | 201 A | A | 1081-1197 | PDB |
| 6SQM | X-ray | 180 A | A/B/C | 1081-1197 | PDB |
| 6SXX | X-ray | 201 A | A/B | 1081-1197 | PDB |
| 6YIJ | X-ray | 220 A | A/B/C/D/E/F/G | 1081-1197 | PDB |
| 6YIK | X-ray | 170 A | A/B/C | 1081-1197 | PDB |
| 6YIL | X-ray | 122 A | A | 1081-1197 | PDB |
| 6YIM | X-ray | 123 A | A | 1081-1197 | PDB |
| 7CO1 | X-ray | 330 A | B/D/F | 1951-1973 | PDB |
| 7EVJ | X-ray | 257 A | A | 1081-1197 | PDB |
| 7JFL | X-ray | 168 A | C/D | 2065-2111 | PDB |
| 7JFM | X-ray | 223 A | C/D | 2065-2111 | PDB |
| 7JUO | X-ray | 220 A | A/B/C/D/E/F/G/H | 1082-1197 | PDB |
| 7KPY | X-ray | 170 A | A/B | 1082-1197 | PDB |
| 7RLE | X-ray | 250 A | B/D | 57-80 | PDB |
| 7TB3 | EM | 257 A | A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U/V/W/X | 587-668 | PDB |
| 7TBH | EM | 230 A | A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U/V/W/X | 587-668 | PDB |
| 7UGE | X-ray | 200 A | A/B | 1082-1197 | PDB |
| 7UGL | X-ray | 150 A | A/B | 1082-1197 | PDB |
| 7WX2 | X-ray | 124 A | A | 1081-1197 | PDB |
| 7XH6 | X-ray | 175 A | A/B | 1081-1197 | PDB |
| 7XHE | X-ray | 159 A | A/B | 1081-1197 | PDB |
| 7XI0 | X-ray | 162 A | A/B | 1081-1197 | PDB |
| 7XIJ | X-ray | 182 A | A | 1081-1197 | PDB |
| 7XM7 | X-ray | 236 A | A/B/C/D | 1081-1197 | PDB |
| 7XNE | X-ray | 217 A | A/B | 1081-1197 | PDB |
| 7XNG | X-ray | 235 A | A/B | 1081-1197 | PDB |
| 8FUP | X-ray | 170 A | A/B | 1082-1197 | PDB |
| 8FV2 | X-ray | 187 A | A/B/C/D | 1082-1197 | PDB |
| 8FXA | X-ray | 165 A | A/B | 1082-1197 | PDB |
| 8FXE | X-ray | 155 A | A | 1081-1197 | PDB |
| 8FXN | X-ray | 200 A | A | 1082-1197 | PDB |
| 8FXO | X-ray | 174 A | A | 1082-1197 | PDB |
| 8G6T | X-ray | 175 A | A/B/C/D | 1082-1197 | PDB |
| 8HAL | EM | 440 A | K | 1084-1873 | PDB |
| 8HAM | EM | 450 A | K | 1084-1873 | PDB |
| 8HAN | EM | 420 A | K | 1084-1873 | PDB |
| AF-Q92793-F1 | Predicted | AlphaFoldDB |
8680 variants for Q92793
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1567386034 RCV000698529 |
1 | M>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
rs797045487 RCV000193780 CA277198 |
1 | M>K | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
CA271394 rs587783484 RCV000145740 |
13 | K>E | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587783484 RCV001220894 |
13 | K>Q | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2055490682 RCV001233937 |
14 | R>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2055490250 RCV001331220 |
16 | K>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2055490182 RCV001065620 |
17 | L>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003759032 RCV001198521 rs1211983012 |
21 | G>D | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000622907 CA658798532 rs1555496732 |
30 | F>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV002252698 rs372495787 RCV002405296 RCV003594150 RCV001760769 |
35 | D>E | Rubinstein-Taybi syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP dbSNP gnomAD |
|
CA271365 RCV003764886 RCV002478406 RCV000145718 rs587783466 |
55 | N>S | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1597054837 RCV000856840 |
58 | N>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2141496166 RCV002276337 COSM88755 RCV003403768 RCV002466753 |
75 | R>* | CREBBP-related condition haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar Ensembl dbSNP |
|
rs1318683084 RCV001336682 |
80 | S>C | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1597054662 RCV000856841 |
82 | I>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001620834 rs770952413 RCV002539566 RCV002539567 |
84 | P>T | Rubinstein-Taybi syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001255816 RCV003770328 rs2054819160 |
86 | I>M | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV003594013 RCV000658735 rs200673670 RCV001198613 |
91 | A>S | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003593913 rs200673670 RCV000120599 CA158182 |
91 | A>T | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001043763 rs746902106 |
92 | S>N | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000192951 rs797045486 CA277056 |
95 | V>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001655658 rs756802946 RCV000989513 RCV002550613 |
95 | V>M | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM88756 rs587783476 CA271381 RCV000145732 |
96 | Q>* | urinary_tract haematopoietic_and_lymphoid_tissue Rubinstein-Taybi syndrome due to CREBBP mutations [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000877781 RCV001682831 RCV002312540 RCV000120600 CA158184 rs141982003 |
98 | G>V | Rubinstein-Taybi syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000145733 CA271383 rs587783477 |
100 | G>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000810810 rs1597054430 |
105 | G>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA271384 RCV000145734 rs587783478 |
106 | Q>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001065768 rs766844540 |
107 | P>L | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002316099 rs766844540 RCV003758912 |
107 | P>R | Rubinstein-Taybi syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002515832 RCV002336262 rs587778211 RCV000120597 CA158178 |
116 | S>G | Rubinstein-Taybi syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA277466 RCV000195252 rs797045491 |
117 | A>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs1597054242 RCV000856842 |
126 | G>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000120598 RCV000514521 rs55790011 CA158180 RCV002055328 |
128 | S>C | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs55790011 RCV001535563 |
128 | S>Y | Hypertrophic cardiomyopathy 11 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000010035 CA254809 rs121434624 |
136 | Q>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP |
|
RCV000856843 rs1295662710 |
146 | A>V | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs146538907 RCV000875077 RCV002339016 CA7870670 RCV001821176 RCV002062529 |
153 | P>L | Rubinstein-Taybi syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA658658390 rs1555496581 RCV002231252 |
158 | Q>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000856844 rs1597053795 |
165 | S>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394560816 COSM220977 RCV000527062 rs1555496560 |
170 | Q>* | haematopoietic_and_lymphoid_tissue Rubinstein-Taybi syndrome due to CREBBP mutations [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs2054809165 RCV001045064 |
190 | N>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2141491677 RCV001932304 |
194 | G>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA241541 RCV000175776 rs794727274 RCV003765089 |
196 | S>G | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA271434 rs587783509 RCV000145774 |
200 | Q>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597053504 RCV000856845 |
205 | Q>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000856846 rs1597053322 |
221 | G>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001196410 rs2054806972 |
223 | G>A | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2054805900 RCV001303503 |
232 | Q>R | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA179942 rs727503892 RCV001850091 RCV002516074 RCV000153120 |
234 | A>V | Rubinstein-Taybi syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA241543 RCV002485138 RCV000989512 RCV000175777 RCV002372086 RCV000878810 rs146887252 RCV001753580 |
238 | V>L | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001787508 RCV002541261 RCV002227559 RCV002503277 RCV003416456 rs146887252 |
238 | V>M | CREBBP-related condition Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs142268920 RCV001255802 |
253 | H>R | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs148781922 RCV000871321 RCV001697046 CA158186 RCV002316341 COSM96460 RCV000120601 |
254 | A>T | Rubinstein-Taybi syndrome large_intestine haematopoietic_and_lymphoid_tissue Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002538886 RCV002487884 rs1597053070 RCV000856847 |
258 | T>A | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001384100 rs2053923868 |
268 | G>* | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs797045502 RCV000192380 CA276962 |
277 | G>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000347899 RCV002502125 RCV002518956 rs577305576 CA7870574 |
278 | Q>P | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001837202 rs1239213391 |
293 | V>E | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
CA158188 rs149961222 RCV000120602 RCV002316342 RCV002515833 |
299 | S>G | Rubinstein-Taybi syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002069335 RCV001573835 RCV001252202 rs200154055 |
302 | S>N | Intellectual disability Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000762185 RCV002533895 rs1567331335 |
303 | M>V | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs587783516 RCV000145784 CA271443 |
318 | S>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000856848 rs1596984633 |
325 | M>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596948165 RCV000856849 |
333 | G>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2053548814 RCV001255819 |
333 | G>E | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000856850 rs1596948052 |
349 | E>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567318022 RCV000754899 |
355 | Q>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM254628 rs587783460 CA271356 RCV000145711 |
355 | Q>* | urinary_tract Rubinstein-Taybi syndrome due to CREBBP mutations [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs121434625 RCV000010036 CA254811 |
357 | Q>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1384496494 RCV000856851 RCV001526626 |
370 | R>* | Corpus callosum, agenesis of Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002508329 rs1179677806 RCV001949736 |
370 | R>P | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1596947743 RCV000856852 |
375 | G>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000856853 rs1596947732 |
377 | V>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001316974 rs2053545106 |
383 | P>L | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000145713 rs587783461 CA271358 |
386 | R>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2053544204 RCV001249728 |
405 | Q>E | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000856890 rs1596944340 |
409 | C>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000501651 rs1302427305 RCV000579110 CA394560862 |
413 | R>* | Variant assessed as Somatic; HIGH impact. Rubinstein-Taybi syndrome due to CREBBP mutations [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000145715 CA271360 COSM2151925 rs587783463 |
419 | W>* | Variant assessed as Somatic; HIGH impact. central_nervous_system Rubinstein-Taybi syndrome due to CREBBP mutations [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001824287 rs587783464 RCV000145716 CA271362 |
424 | R>* | Variant assessed as Somatic; HIGH impact. Rubinstein-Taybi syndrome due to CREBBP mutations [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1567316655 RCV000754900 |
427 | C>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2053306001 RCV001058497 |
454 | Q>* | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs369459749 RCV002265601 RCV002381401 RCV002514423 CA222672 RCV000081029 |
457 | I>V | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2053305017 RCV001233402 |
463 | G>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA158203 rs202225861 COSM96412 RCV002055329 RCV000120610 RCV001719881 |
467 | A>T | ovary Rubinstein-Taybi syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001331216 rs1185619320 |
473 | P>L | Menke-Hennekam syndrome 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001268046 RCV002231028 RCV003157633 rs1555484797 CA394557681 COSM255965 |
483 | R>* | Variant assessed as Somatic; HIGH impact. Rubinstein-Taybi syndrome central_nervous_system Rubinstein-Taybi syndrome due to CREBBP mutations [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000856891 rs1596920745 |
495 | Q>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA158201 rs369550568 RCV000120609 RCV002515836 |
505 | P>L | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000731898 rs766320521 RCV002485905 RCV001868968 |
507 | Q>R | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001234331 rs1596920501 RCV000856892 |
517 | Q>* | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1567309482 RCV000678969 |
521 | L>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002487880 rs747187975 RCV000850462 COSM970608 |
529 | M>V | endometrium Marfanoid habitus and intellectual disability Rubinstein-Taybi syndrome due to CREBBP mutations [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000145717 rs587783465 CA271364 |
530 | N>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
COSM6056878 RCV002007528 rs398124138 |
540 | Q>* | Variant assessed as Somatic; HIGH impact. Rubinstein-Taybi syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar TOPMed dbSNP gnomAD |
|
RCV002514424 rs398124138 RCV000081030 CA222674 |
540 | Q>K | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002471094 rs947001316 RCV001355418 |
543 | P>A | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1596917200 RCV000856894 |
549 | S>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000550437 RCV000081031 RCV000426201 CA248673 RCV002311603 rs61753381 |
551 | L>I | Rubinstein-Taybi syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001218604 rs2053266530 |
555 | L>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000989511 rs1596916327 |
565 | G>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000153119 rs148023511 CA233869 RCV000764070 RCV002316965 RCV003105799 |
578 | P>S | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000856895 rs1354934373 COSM1377858 |
601 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine Rubinstein-Taybi syndrome due to CREBBP mutations [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar dbSNP gnomAD |
|
RCV000145719 CA271367 rs587783467 |
607 | K>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001249727 rs2053254528 |
608 | L>P | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000815567 rs1596909915 |
619 | A>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596909791 RCV000856897 |
636 | V>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2141237372 RCV002223099 |
639 | D>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002233539 rs1567306142 |
640 | M>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1376477785 RCV002313621 |
642 | E>K | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002077368 rs2141237064 |
644 | A>P | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
| VAR_072915 | 650 | Y>F | RSTS1 [UniProt] | Yes | UniProt |
|
RCV000145721 rs587783468 CA271368 |
652 | H>P | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2053190428 RCV001253817 |
659 | Y>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
Ensembl ClinVar dbSNP |
|
RCV000791751 rs1596908213 |
668 | K>* | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000145722 rs587783469 CA271370 |
676 | Q>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000624200 CA658798530 rs1555483716 |
678 | I>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV002315462 rs375125948 |
688 | P>L | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002415608 CA158209 RCV003430674 RCV002515837 rs531539047 RCV000120613 |
690 | A>S | Rubinstein-Taybi syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs587783470 RCV000145723 CA271371 |
708 | L>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
COSM96459 RCV001787528 rs141098117 RCV003594157 |
714 | R>H | Rubinstein-Taybi syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA394554059 rs141098117 RCV002233935 |
714 | R>L | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2053094536 RCV001331217 |
724 | F>I | Menke-Hennekam syndrome 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs797045483 CA276978 RCV000192496 |
727 | M>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV002090828 rs748747684 |
742 | R>P | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001213863 rs2053092574 |
745 | S>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001714669 rs142932907 RCV002425029 RCV002073359 |
747 | M>V | Rubinstein-Taybi syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA16608189 rs1057520652 RCV000431043 RCV001851047 |
768 | R>* | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs754386072 RCV001806591 RCV002478034 RCV003759076 |
768 | R>Q | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001854429 RCV000081037 RCV002477232 rs147805823 CA222683 RCV002514426 |
771 | Q>R | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000625604 CA394553093 rs1555482779 |
772 | P>T | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1596895545 RCV000815586 |
774 | N>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002543987 RCV001768448 rs990281677 |
775 | M>V | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000856900 rs1596895500 |
777 | G>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001850439 RCV000328629 RCV003151764 CA7870151 rs755265819 |
787 | A>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs746728741 VAR_072916 |
789 | A>T | Variant assessed as Somatic; MODERATE impact. RSTS1 [NCI-TCGA, UniProt] | Yes |
UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1596895167 RCV000989510 |
795 | P>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003407785 rs754981072 RCV001756500 RCV002538742 |
804 | G>R | CREBBP-related condition Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003399373 RCV002568415 RCV001562450 rs370128808 |
805 | A>T | CREBBP-related condition Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002504376 RCV001255112 rs1596895058 RCV002570581 |
806 | M>K | Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000856901 rs1596895058 |
806 | M>R | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001270737 rs1596895058 |
806 | M>T | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002560261 rs750178517 RCV001198921 RCV002480650 |
807 | S>T | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2141214738 RCV002245282 |
813 | P>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003458656 rs150767375 RCV003759036 RCV001252205 RCV002462884 COSM4060714 |
813 | P>L | Intellectual disability Variant assessed as Somatic; MODERATE impact. Rubinstein-Taybi syndrome Menke-Hennekam syndrome 1 [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1596894889 RCV000856902 |
820 | S>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002477662 RCV002318031 RCV001696223 RCV002533026 rs779000839 |
828 | A>S | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001199275 rs759041100 RCV001197473 RCV002480647 |
835 | M>I | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2052990480 RCV001253247 |
844 | P>S | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000145724 rs587783471 CA271372 |
845 | C>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001197022 RCV002561049 rs542970560 |
853 | L>M | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000593529 RCV001860192 CA7870076 rs766086544 |
857 | P>L | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA158170 RCV001088835 RCV002311604 RCV000439802 rs145733598 RCV000120593 |
858 | P>S | Rubinstein-Taybi syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2141203402 RCV001380506 |
859 | P>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001882821 rs771016864 RCV002539869 COSM4129055 RCV002496068 RCV001756480 |
866 | M>I | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases thyroid [ClinVar, Cosmic] | Yes |
cosmic curated ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV000145726 CA271376 rs587783473 |
869 | L>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
CA271374 rs587783472 RCV000145725 |
869 | L>P | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001418409 rs746552957 |
876 | G>R | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001817937 rs779479811 RCV002542706 |
879 | P>S | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002315350 rs1216005413 |
883 | A>S | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002211341 RCV003408168 rs370012973 RCV003594169 |
890 | T>P | CREBBP-related condition Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000081040 RCV002313771 CA148111 rs142047649 RCV000429335 COSM96413 RCV001086640 RCV002498423 RCV000989509 |
893 | S>L | lung Rubinstein-Taybi syndrome large_intestine Rubinstein-Taybi syndrome due to CREBBP mutations breast Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs797045484 CA277190 RCV000193709 |
894 | S>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
CA394551145 rs1186080322 RCV000596633 RCV002531088 |
899 | P>A | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000856854 rs1596886295 |
905 | S>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_072917 RCV001087789 RCV001252206 rs143247685 RCV002224958 CA171789 RCV000421582 RCV000022942 RCV002311524 RCV000145728 |
910 | T>A | Intellectual disability Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases RSTS1; incomplete [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002316339 RCV002055327 rs143247685 RCV001557193 RCV000120591 CA158166 |
910 | T>S | Rubinstein-Taybi syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1596886183 RCV000804679 |
919 | Q>* | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000856855 rs1596886132 |
925 | Q>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1596886048 RCV000856856 |
930 | P>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587783475 CA271379 RCV000145730 |
931 | Q>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2052980008 RCV001049869 |
932 | T>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2141199443 RCV001932876 |
936 | P>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA277340 rs797045485 RCV000194548 |
938 | S>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs1596885894 RCV000856857 |
940 | A>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002495932 RCV003106237 RCV001583471 rs147083140 |
949 | P>L | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002486106 rs369930675 RCV003393959 RCV002538429 RCV001293919 |
952 | V>M | CREBBP-related condition Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002493340 RCV000731974 rs373284909 |
954 | A>T | Variant assessed as Somatic; MODERATE impact. Rubinstein-Taybi syndrome due to CREBBP mutations [NCI-TCGA, ClinVar] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000856858 rs1596885651 |
955 | Q>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
rs147795744 RCV002516652 CA240516 RCV000174893 |
968 | I>T | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV000856859 rs1596882629 |
971 | R>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1374436403 RCV000856860 |
971 | R>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA148113 RCV000081042 RCV001618250 RCV000870748 RCV000509267 RCV002311606 rs61753380 |
981 | A>T | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA222689 rs140406003 RCV002515776 RCV000081043 RCV002433589 |
984 | N>Y | Rubinstein-Taybi syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000081045 RCV002311607 RCV001675608 rs61731383 RCV000870865 CA148117 |
992 | V>I | Rubinstein-Taybi syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM3667852 rs886042430 RCV000362295 CA10604228 RCV003758743 |
993 | P>S | liver Rubinstein-Taybi syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV001816775 RCV002060926 RCV000968912 RCV002318055 RCV002499315 rs774653315 |
1007 | E>D | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1596882124 RCV000856861 |
1008 | P>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
CA158172 rs139896431 RCV000120594 RCV002316340 RCV001501333 |
1010 | P>L | Rubinstein-Taybi syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000856862 rs1596882010 |
1020 | E>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000194630 CA277351 rs797045488 |
1026 | L>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs757051244 RCV003407645 CA240724 RCV000175058 RCV002312710 RCV002516659 |
1030 | S>F | CREBBP-related condition Rubinstein-Taybi syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001754175 RCV002324174 rs2052895796 |
1031 | Q>E | Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs1596878921 RCV000856864 |
1033 | K>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002504996 rs61731376 CA148119 RCV000081047 RCV001682774 RCV000870669 RCV002311608 |
1043 | S>L | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002317010 RCV000872888 COSM88732 CA240722 rs142008620 RCV000175057 RCV001711969 |
1053 | P>L | Rubinstein-Taybi syndrome haematopoietic_and_lymphoid_tissue Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000856865 rs1596878700 |
1057 | V>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10602613 RCV000258504 rs886041006 |
1064 | E>K | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001618131 rs555109138 RCV002539568 |
1069 | G>C | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1476678901 RCV001331218 |
1076 | S>F | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002539623 rs942848385 RCV001658967 RCV002488449 |
1078 | S>L | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002315373 rs777713620 |
1080 | P>L | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001801255 rs2141181124 |
1083 | K>N | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000856866 rs1596856390 |
1097 | T>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000145735 COSM221505 rs587783479 CA271386 |
1104 | Q>* | haematopoietic_and_lymphoid_tissue Rubinstein-Taybi syndrome due to CREBBP mutations [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000856867 rs1596856285 |
1111 | F>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596856176 RCV000856868 |
1123 | P>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003136395 RCV001973783 rs774047746 |
1129 | V>I | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2151383848 RCV001808129 |
1140 | R>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2151383792 RCV001930793 |
1142 | L>P | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000624448 CA658798533 rs1555478331 |
1143 | D>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs1596854369 RCV000856903 |
1145 | G>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
CA277030 rs797045489 RCV000192840 |
1146 | Q>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001252209 rs2052626228 |
1148 | Q>E | Intellectual disability [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV000194047 CA277251 rs797045490 |
1155 | D>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs148166625 RCV002247112 RCV002481054 |
1162 | N>S | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000623108 CA394568816 rs1555478297 |
1163 | N>I | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs797045492 RCV001261355 RCV000192723 CA277012 |
1164 | A>P | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001027692 rs1596853925 |
1165 | W>C | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
CA271389 rs587783481 RCV000145737 RCV002228523 |
1167 | Y>C | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs28937315 CA254814 VAR_037305 RCV000010039 |
1175 | Y>C | Rubinstein-Taybi syndrome due to CREBBP mutations RSTS1; mild form; impairs binding to ASF1A and acetylated histone H3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs1596854023 RCV000856904 |
1179 | S>G | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001823504 rs2151383193 |
1191 | P>T | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2052622209 RCV001261356 |
1200 | C>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002515831 RCV000120596 CA158176 rs200346970 RCV001567118 |
1204 | Y>F | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000145738 rs587783482 CA271391 |
1205 | E>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001091532 RCV001759862 rs2052611239 |
1209 | Q>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596852578 RCV000856907 RCV002453935 |
1209 | Q>* | Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001205702 rs2052610724 |
1212 | C>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1272691121 RCV001663140 RCV002495982 |
1214 | Y>C | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1596852463 RCV000856908 |
1220 | T>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596852443 RCV000856909 |
1221 | I>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001242233 rs2052609627 |
1225 | A>T | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001383322 rs2151381815 |
1226 | A>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000856910 rs748451307 |
1230 | Y>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV000415361 RCV001198296 CA16043514 rs1057518844 |
1233 | R>K | Thumb deformity Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001858527 rs1596839714 RCV000856912 |
1240 | C>Y | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000856914 rs1596834998 |
1278 | E>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2151368021 VAR_072918 |
1278 | E>A | RSTS1 [UniProt] | Yes |
Ensembl UniProt |
|
RCV001813970 RCV001260694 RCV000255660 RCV000010040 RCV001267080 VAR_035080 COSM3420981 rs267606752 RCV002496320 CA254815 |
1278 | E>K | Intellectual disability Variant assessed as Somatic; MODERATE impact. large_intestine Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases RSTS1; abolishes acetyltransferase activity [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs267606752 RCV002226836 |
1278 | E>Q | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs749189606 RCV001331219 |
1279 | P>R | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2151355973 RCV001935281 |
1280 | F>C | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs201874248 RCV002354741 RCV002540796 RCV000909651 |
1281 | V>I | Rubinstein-Taybi syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1278147369 RCV001267253 |
1294 | C>W | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001420511 rs773159964 COSM703031 |
1298 | Y>C | lung Variant assessed as Somatic; MODERATE impact. Rubinstein-Taybi syndrome due to CREBBP mutations [Cosmic, NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2052315739 RCV001196918 |
1298 | Y>H | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002251263 rs2151355349 |
1303 | P>S | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2151354200 RCV001973715 RCV003264356 |
1307 | V>A | Rubinstein-Taybi syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002532590 rs558051943 RCV000595365 CA7869658 |
1310 | N>S | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001814883 rs2151354104 |
1314 | K>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA394566577 RCV000624459 rs1555475250 COSM4848624 |
1319 | R>* | Variant assessed as Somatic; HIGH impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002253117 RCV002481058 RCV003403756 rs760292945 |
1325 | S>I | CREBBP-related condition Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002233133 rs1567276741 |
1326 | A>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000145745 CA271399 rs587783487 |
1330 | Q>R | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2151341032 RCV001807948 |
1338 | L>W | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000145746 CA271401 rs587783488 |
1341 | R>P | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1596813665 RCV000856870 |
1347 | R>P | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA271403 rs587783489 RCV000145747 |
1349 | Q>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2052177028 RCV001291835 |
1350 | N>K | Menke-Hennekam syndrome 1 [ClinVar] | Yes |
Ensembl ClinVar dbSNP |
|
rs762638591 RCV001574440 RCV003394150 RCV001866053 |
1358 | F>S | CREBBP-related condition Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000856871 rs1596813570 |
1360 | R>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM88763 RCV000145748 rs587783490 CA271405 RCV002464124 |
1360 | R>* | Variant assessed as Somatic; HIGH impact. haematopoietic_and_lymphoid_tissue Rubinstein-Taybi syndrome due to CREBBP mutations [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000754902 rs1567272940 |
1371 | V>D | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000754902 rs867556262 |
1373 | P>H | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002495963 rs2052174869 RCV001596625 |
1374 | G>A | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
VAR_015578 CA254813 rs121434626 RCV000010037 |
1378 | R>P | Rubinstein-Taybi syndrome due to CREBBP mutations RSTS1; abolishes acetyltransferase activity and the ability of transactivate CREB [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001780057 rs121434626 |
1378 | R>Q | Neurodevelopmental disorder [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001420576 RCV002499902 rs2052155279 |
1381 | D>N | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs149877180 RCV000856872 |
1382 | S>F | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar ESP dbSNP |
|
rs1567272395 RCV002312457 |
1384 | E>K | Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000856873 rs1596812306 COSM5886913 |
1392 | R>* | Variant assessed as Somatic; HIGH impact. Rubinstein-Taybi syndrome due to CREBBP mutations [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar Ensembl dbSNP |
|
rs1596812290 RCV000856874 |
1392 | R>L | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1596812256 RCV000856783 |
1402 | I>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000722417 RCV003758915 rs140133512 COSM1377832 |
1405 | V>M | Variant assessed as Somatic; MODERATE impact. Rubinstein-Taybi syndrome large_intestine [NCI-TCGA, ClinVar, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2052153254 RCV003142166 RCV001218406 VAR_072919 |
1406 | D>Y | Rubinstein-Taybi syndrome RSTS1 [ClinVar, UniProt] | Yes |
ClinVar UniProt Ensembl dbSNP |
|
CA271408 RCV000145750 rs587783492 |
1409 | F>S | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002233936 rs1555473668 CA658798529 |
1411 | G>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000856875 COSM1161163 rs1596812202 |
1415 | Q>* | Variant assessed as Somatic; HIGH impact. haematopoietic_and_lymphoid_tissue Rubinstein-Taybi syndrome due to CREBBP mutations [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP |
| VAR_072920 | 1415 | Q>P | RSTS1 [UniProt] | Yes | UniProt |
|
RCV001249613 rs200616542 |
1421 | C>F | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs145988918 RCV000856876 |
1426 | T>R | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA242550 rs794727401 RCV000176558 RCV000856877 |
1427 | R>G | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA277444 RCV000195137 rs797045494 |
1427 | R>S | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000856878 rs778448390 |
1428 | R>P | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar ExAC dbSNP |
|
RCV000856879 rs1596810465 |
1430 | Y>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
Ensembl ClinVar dbSNP |
|
RCV000856880 rs1596810435 |
1433 | Y>H | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs928061320 RCV002226996 COSM88737 |
1435 | D>E | Rubinstein-Taybi syndrome due to CREBBP mutations haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar Ensembl dbSNP |
|
COSM703033 RCV000856881 rs1596810419 |
1435 | D>Y | lung Variant assessed as Somatic; MODERATE impact. Rubinstein-Taybi syndrome due to CREBBP mutations [Cosmic, NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP |
|
rs398124146 RCV000418574 RCV000433226 RCV000434703 RCV000700948 RCV000423556 COSM88749 RCV000441267 RCV000443206 RCV000425760 RCV000426681 RCV000426447 RCV000442404 RCV002228327 RCV000081052 RCV000436055 CA222695 |
1446 | R>C | Medulloblastoma (mdb) upper_aerodigestive_tract liver NS Variant assessed as Somatic; MODERATE impact. Neoplasm of uterine cervix Rubinstein-Taybi syndrome Glioblastoma central_nervous_system Hepatocellular carcinoma Gastric adenocarcinoma Rubinstein-Taybi syndrome due to CREBBP mutations lung Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma Medulloblastoma large_intestine Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue breast Adenoid cystic carcinoma Malignant melanoma of skin [Ensembl, Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000419312 RCV000440692 RCV000423470 RCV000430036 CA16602827 RCV000432952 RCV000438307 RCV000442935 RCV000431113 COSM254625 rs398124146 RCV000439458 RCV000422245 RCV000428778 |
1446 | R>G | Medulloblastoma (mdb) Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma Neoplasm of uterine cervix Medulloblastoma Glioblastoma urinary_tract Hepatocellular carcinoma Neoplasm of the large intestine Gastric adenocarcinoma Adenoid cystic carcinoma Malignant melanoma of skin [Ensembl, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
RCV000437565 CA16602826 RCV000441892 RCV000425211 RCV000441923 RCV000432858 RCV000435262 rs1057519884 RCV000443540 RCV000424559 COSM88748 RCV000425657 RCV000420453 RCV000433580 |
1446 | R>H | Medulloblastoma (mdb) upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. Neoplasm of uterine cervix Glioblastoma central_nervous_system Hepatocellular carcinoma Gastric adenocarcinoma Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma Medulloblastoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Adenoid cystic carcinoma Malignant melanoma of skin [Ensembl, Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000434630 RCV000417475 rs1057519884 RCV000440084 RCV000422899 RCV000428142 RCV000430512 RCV000436449 RCV000438833 RCV000441248 CA16602825 RCV000423976 RCV000418109 COSM88738 |
1446 | R>L | Medulloblastoma (mdb) Variant assessed as Somatic; MODERATE impact. Neoplasm of uterine cervix Glioblastoma central_nervous_system Hepatocellular carcinoma Gastric adenocarcinoma Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma Medulloblastoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Adenoid cystic carcinoma Malignant melanoma of skin [Ensembl, NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001567418 rs2151334254 RCV001866006 VAR_035081 |
1447 | T>I | Rubinstein-Taybi syndrome RSTS1 [ClinVar, UniProt] | Yes |
ClinVar Ensembl dbSNP UniProt |
|
rs1555473499 CA394564396 RCV000623013 VAR_035082 |
1450 | Y>H | Inborn genetic diseases RSTS1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000145753 rs587783494 CA271411 |
1459 | E>G | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555473491 CA394564268 RCV002260958 RCV000633000 |
1465 | G>E | Variant assessed as Somatic; MODERATE impact. Rubinstein-Taybi syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000145754 rs147688139 CA271413 |
1466 | Y>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs2052073167 RCV001221458 |
1469 | G>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2151330140 RCV000010038 |
1469 | G>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
CA204617 RCV000190664 VAR_035083 rs797044860 |
1470 | H>R | Inborn genetic diseases RSTS1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000856883 rs1596805927 |
1473 | A>T | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1555473126 CA658798528 RCV002234416 |
1474 | C>F | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_072921 | 1475 | P>T | RSTS1 [UniProt] | Yes | UniProt |
|
RCV000677660 rs1555473122 |
1479 | G>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000334678 CA10603272 RCV000850544 rs886041286 |
1480 | D>G | Variant assessed as Somatic; MODERATE impact. Rubinstein-Taybi syndrome due to CREBBP mutations [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
COSM1315875 rs587783496 RCV000145756 CA271417 |
1482 | Y>C | haematopoietic_and_lymphoid_tissue Rubinstein-Taybi syndrome due to CREBBP mutations [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000145755 rs587783495 CA271415 |
1482 | Y>D | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596805807 RCV000856915 |
1487 | H>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000856917 rs1596805792 |
1487 | H>R | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA16043855 COSM88742 RCV000416059 rs1057519207 RCV000856916 |
1487 | H>Y | Variant assessed as Somatic; MODERATE impact. large_intestine haematopoietic_and_lymphoid_tissue Rubinstein-Taybi syndrome due to CREBBP mutations [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000802475 rs1303444757 |
1489 | P>A | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001884465 rs199817036 |
1494 | P>S | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2052070776 COSM1159754 RCV001055503 |
1498 | R>* | Variant assessed as Somatic; HIGH impact. Rubinstein-Taybi syndrome haematopoietic_and_lymphoid_tissue [NCI-TCGA, ClinVar, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP |
|
rs1567269945 RCV002316912 |
1498 | R>Q | Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001267089 rs2052070559 |
1499 | L>V | Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV000145757 CA271419 rs587783497 |
1503 | Y>C | Variant assessed as Somatic; MODERATE impact. Rubinstein-Taybi syndrome due to CREBBP mutations [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
COSM88745 VAR_072922 rs587783497 |
1503 | Y>F | haematopoietic_and_lymphoid_tissue RSTS1 [Cosmic, UniProt] | Yes |
cosmic curated Ensembl UniProt |
|
rs1057520191 RCV000419060 VAR_072923 CA16603336 |
1507 | L>P | RSTS1 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002262506 RCV003375611 rs780939128 |
1510 | A>V | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000856918 rs1596805575 |
1520 | K>M | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1596805575 RCV000799589 |
1520 | K>R | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002272795 rs1186470200 |
1527 | T>A | Menke-Hennekam syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV000856919 rs1596804126 |
1538 | P>L | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
| VAR_072924 | 1543 | D>N | RSTS1 [UniProt] | Yes | UniProt |
|
RCV000856920 rs1596804073 |
1549 | L>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
CA658658388 rs1555472938 RCV000538610 |
1549 | L>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs1567269316 RCV000754903 |
1554 | K>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA394562323 rs1555472931 RCV002234418 |
1555 | E>* | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000806116 rs778375586 |
1558 | Q>* | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001383661 rs2151327706 |
1560 | E>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA271421 RCV000145760 rs587783499 |
1565 | K>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs1186493453 RCV001822437 RCV002506857 |
1570 | A>V | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002024360 rs746079826 |
1579 | Q>E | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA271422 rs587783500 RCV000145762 |
1598 | S>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV002244141 rs2151319330 |
1602 | R>S | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA148126 RCV000081055 RCV001521308 RCV002477233 RCV000872059 RCV002313774 rs73491901 |
1608 | P>T | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1377820 RCV002246449 RCV002539614 rs766085073 RCV003319995 RCV001658799 |
1613 | V>M | Rubinstein-Taybi syndrome large_intestine [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000145763 rs587783501 CA271423 |
1632 | F>L | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA658798526 RCV003329314 rs1555471931 RCV003128665 RCV003147522 RCV000622884 |
1633 | F>missing | Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs2151317319 RCV001390956 |
1649 | I>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002539622 COSM4060702 rs776549587 RCV001658959 |
1650 | V>I | Variant assessed as Somatic; MODERATE impact. Rubinstein-Taybi syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1596791996 RCV001784472 VAR_035084 RCV000856923 |
1664 | R>H | Rubinstein-Taybi syndrome due to CREBBP mutations RSTS1; abolishes acetyltransferase activity [ClinVar, UniProt] | Yes |
ClinVar UniProt Ensembl dbSNP |
|
COSM1159753 rs1596791996 RCV001842251 |
1664 | R>L | haematopoietic_and_lymphoid_tissue Rubinstein-Taybi syndrome due to CREBBP mutations [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar Ensembl dbSNP |
|
RCV001532273 RCV003759057 rs2151316910 |
1671 | A>T | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1555471874 CA394558691 RCV002233937 |
1672 | R>* | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs797045495 CA277127 RCV000193359 |
1676 | W>* | Variant assessed as Somatic; HIGH impact. Rubinstein-Taybi syndrome due to CREBBP mutations [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs2051909999 RCV001226464 |
1676 | W>* | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001804855 rs587783502 CA271425 RCV000145764 RCV003398783 RCV003593918 |
1680 | S>missing | CREBBP-related condition Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000145765 CA271427 rs587783503 |
1684 | S>P | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555471841 CA394558493 RCV002231253 |
1684 | S>Y | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002504629 rs2151316542 RCV001377314 |
1687 | S>F | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001066810 rs61731407 |
1687 | S>P | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002277703 RCV003222412 rs1231818807 |
1691 | M>L | Neurodevelopmental disorder [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001247947 rs1275659601 |
1702 | R>L | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs1567265203 RCV000757965 VAR_078557 |
1710 | C>R | Menke-Hennekam syndrome 1 MKHK1 [ClinVar, UniProt] | Yes |
ClinVar UniProt Ensembl dbSNP |
|
CA394558168 rs1555471813 RCV000624708 |
1710 | C>Y | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_081979 | 1719 | H>D | MKHK1 [UniProt] | Yes | UniProt |
|
rs2051906390 RCV001253321 RCV003223712 |
1720 | C>R | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001267497 rs2051906316 |
1720 | C>Y | Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002249840 rs146718571 |
1723 | C>W | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_081980 COSM1519213 RCV003317356 rs1567265131 COSM6144611 RCV000757969 |
1724 | E>K | lung Variant assessed as Somatic; MODERATE impact. Menke-Hennekam syndrome 1 MKHK1 [Cosmic, NCI-TCGA, ClinVar, UniProt] | Yes |
cosmic curated NCI-TCGA Cosmic ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs2051863859 RCV001089539 |
1729 | C>S | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2051863859 RCV001260695 |
1729 | C>Y | Intellectual disability [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000984087 rs1159294530 |
1730 | I>V | Multiple myeloma [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002525758 RCV002341123 CA16620202 COSM1377817 RCV000480754 rs1064793090 |
1735 | T>M | Variant assessed as Somatic; MODERATE impact. Rubinstein-Taybi syndrome large_intestine Inborn genetic diseases [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000209852 CA357158 rs869312714 |
1746 | G>V | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2151312325 VAR_078558 |
1747 | L>R | MKHK1 [UniProt] | Yes |
Ensembl UniProt |
|
rs2151311901 RCV001939522 |
1766 | E>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2151311865 RCV002020449 |
1767 | S>KNPQ | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000722632 RCV001027872 COSM970552 rs1567263529 |
1782 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium Menke-Hennekam syndrome 1 [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001268568 VAR_081981 rs2051858361 |
1782 | A>V | MKHK1 [UniProt] | Yes |
ClinVar UniProt Ensembl dbSNP |
|
CA394557062 RCV000782092 rs1555471394 COSM3690997 RCV000622375 |
1786 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001249612 RCV001847212 rs988251457 |
1786 | R>H | Variant assessed as Somatic; MODERATE impact. Rubinstein-Taybi syndrome due to CREBBP mutations [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP |
|
VAR_078559 rs988251457 |
1786 | R>P | MKHK1 [UniProt] | Yes |
TOPMed UniProt |
|
rs375462934 CA394557053 RCV000623640 |
1787 | N>K | Inborn genetic diseases [ClinVar] | Yes |
ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000623665 CA394557043 rs1064794963 RCV001027717 RCV003231542 |
1789 | N>S | Inborn genetic diseases Menke-Hennekam syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs797045496 RCV000194204 CA277274 |
1804 | H>Q | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| VAR_078560 | 1819 | C>F | MKHK1 [UniProt] | Yes | UniProt |
|
RCV001799564 rs1448187215 |
1821 | Q>R | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
VAR_078561 rs2151310481 |
1826 | C>W | MKHK1 [UniProt] | Yes |
Ensembl UniProt |
|
RCV000824846 rs1596787459 |
1828 | Y>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_081982 | 1829 | H>D | MKHK1 [UniProt] | Yes | UniProt |
|
RCV001765403 rs2151310426 RCV002343826 |
1830 | A>T | Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
TCGA novel rs1596787407 VAR_078562 |
1838 | C>Y | Variant assessed as Somatic; MODERATE impact. MKHK1 [NCI-TCGA, UniProt] | Yes |
NCI-TCGA Ensembl UniProt |
|
RCV000497928 CA7869272 RCV001265899 rs763253161 |
1851 | R>C | Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002249839 rs2151309803 |
1852 | Q>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001260744 rs2051852330 |
1854 | Q>P | Intellectual disability [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001315253 rs770325046 |
1858 | R>P | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_081983 | 1865 | M>I | MKHK1 [UniProt] | Yes | UniProt |
|
RCV003758800 rs1131691326 RCV000493961 CA394555929 RCV000757966 VAR_078563 |
1867 | R>Q | Rubinstein-Taybi syndrome Menke-Hennekam syndrome 1 MKHK1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_078564 rs398124148 RCV001091530 |
1867 | R>W | MKHK1 [UniProt] | Yes |
ClinVar Ensembl dbSNP UniProt |
|
RCV000735305 RCV002535428 rs1567263168 RCV003156115 VAR_081984 RCV000782063 |
1868 | R>Q | Rubinstein-Taybi syndrome Atrial septal defect MKHK1 [ClinVar, UniProt] | Yes |
ClinVar UniProt Ensembl dbSNP |
|
RCV002282094 CA10588618 RCV000254930 RCV003156089 RCV000757967 VAR_078565 rs886039491 |
1868 | R>W | Menke-Hennekam syndrome Menke-Hennekam syndrome 1 MKHK1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_081985 | 1870 | A>P | MKHK1 [UniProt] | Yes | UniProt |
|
rs2151309510 RCV001543358 |
1871 | T>missing | Menke-Hennekam syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2051850835 RCV001198109 |
1871 | T>P | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs879255381 RCV002290966 CA10586027 RCV002518519 RCV000238672 |
1872 | M>T | Rubinstein-Taybi syndrome Menke-Hennekam syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002517032 RCV000191076 RCV003458352 rs797045037 RCV000523539 RCV001260745 VAR_078566 RCV000757968 CA276136 RCV003422092 |
1872 | M>V | CREBBP-related condition Intellectual disability Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 MKHK1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1567263114 RCV000710038 RCV000823101 |
1882 | L>missing | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
rs143180774 RCV002315455 RCV003420279 RCV003594022 |
1889 | P>L | CREBBP-related condition Rubinstein-Taybi syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002231254 CA658658386 rs1555471323 |
1898 | S>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV002226990 rs2151308835 |
1904 | Q>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs199990883 CA248675 RCV000081061 RCV000224624 RCV002311611 RCV000145767 RCV001085724 |
1907 | A>T | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1596786752 RCV000856924 |
1908 | Q>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000714851 RCV002477653 rs760771706 RCV002532980 |
1914 | V>M | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000402703 CA7869249 RCV002487197 rs559294915 |
1916 | M>T | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001262784 rs2051845365 |
1921 | F>L | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
Ensembl ClinVar dbSNP |
|
rs368145743 CA158197 RCV002515835 RCV002354304 RCV001573612 RCV000120607 COSM1377813 |
1924 | V>M | Variant assessed as Somatic; MODERATE impact. Rubinstein-Taybi syndrome large_intestine Inborn genetic diseases [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000989507 RCV002549727 rs778915687 |
1926 | R>G | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1370704436 RCV001973248 |
1926 | R>Q | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002035383 rs2151308298 |
1928 | Q>* | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1596786512 RCV000856925 |
1931 | T>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002542829 RCV001839234 rs749249146 RCV002478074 |
1932 | T>A | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001897340 rs867074201 |
1932 | T>M | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001087896 rs587783504 RCV000177560 RCV002221200 RCV002354332 RCV000145768 CA243769 |
1934 | S>P | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003759093 RCV002272833 rs2151308115 |
1935 | T>I | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs587783505 RCV000145769 CA271429 |
1941 | Q>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000145771 rs587783506 CA271431 |
1945 | P>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000145772 rs587783507 RCV000681911 CA271432 |
1946 | P>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001578063 RCV002359190 RCV002568505 RCV002495924 rs1321085895 |
1946 | P>A | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV003420244 RCV002485719 rs765600316 RCV002352188 RCV002233339 |
1946 | P>Q | CREBBP-related condition Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA277424 rs587783507 RCV001731511 RCV000195029 |
1947 | P>missing | CREBBP-Related Disorders Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001254974 rs557611780 RCV003416090 RCV003593928 RCV000177559 CA243767 |
1948 | P>L | CREBBP-related condition Intellectual disability Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV001331221 rs1231016252 |
1948 | P>T | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs2151307787 RCV001839075 |
1949 | A>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000856926 rs1596786219 |
1949 | A>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596786167 RCV000798264 |
1953 | P>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000145773 rs587783508 CA271433 |
1957 | E>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001944894 rs986406817 |
1958 | A>V | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV000754905 rs1567262537 |
1969 | Q>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001708176 rs754429038 RCV003759063 |
1977 | I>N | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs112906840 COSM96469 RCV000871098 CA148132 RCV002311612 RCV000081062 RCV001727562 |
1978 | N>S | Rubinstein-Taybi syndrome haematopoietic_and_lymphoid_tissue Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA277105 RCV000193252 rs797045498 |
1980 | S>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000177558 RCV002500498 CA243765 RCV002516740 RCV003390899 rs777318563 |
1990 | T>missing | CREBBP-related condition Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs1596785514 RCV000856884 |
1996 | A>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1282498604 RCV001682623 |
2003 | P>S | Variant assessed as Somatic; MODERATE impact. Rubinstein-Taybi syndrome due to CREBBP mutations [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs751739281 RCV001195818 RCV003759031 |
2010 | G>R | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs2151306514 RCV002245513 |
2015 | S>missing | Menke-Hennekam syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003758953 rs771420935 RCV000996194 |
2019 | G>V | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003403260 RCV002316527 rs745551441 RCV002231255 CA7869187 RCV002497075 |
2024 | A>V | CREBBP-related condition Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587783510 CA271436 RCV000145775 |
2030 | Q>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001252210 rs2051830234 |
2035 | L>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000194469 CA277328 rs797045499 |
2036 | P>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000856885 rs1596784713 |
2038 | P>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001246005 rs1052723403 RCV002491828 RCV001252201 RCV002357049 |
2042 | M>I | Intellectual disability Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases [ClinVar] | Yes |
gnomAD ClinVar dbSNP |
|
CA271438 RCV000145777 rs587783511 |
2044 | A>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000856886 RCV001420346 rs1596784713 |
2047 | A>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555471098 RCV000626862 CA658798525 |
2062 | I>missing | Thumb deformity [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001255090 rs374150949 |
2065 | S>R | Global developmental delay [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1596784310 RCV000856887 |
2074 | L>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10603392 RCV002250613 RCV000261393 RCV001256995 rs886041518 |
2081 | Q>* | Variant assessed as Somatic; HIGH impact. Rare genetic intellectual disability Rubinstein-Taybi syndrome due to CREBBP mutations [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000414795 rs1057518789 RCV003326423 RCV000760803 CA16043513 |
2082 | Q>* | Global developmental delay Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001265550 rs2051825168 |
2084 | Q>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001266939 rs2051824872 |
2089 | I>F | Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
CA394553744 RCV000503664 rs1555471077 |
2092 | S>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001754541 RCV000497205 rs199821421 CA394553636 RCV000623929 |
2108 | Y>* | Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD ClinGen |
|
RCV001485598 rs139169188 RCV002317338 CA7869138 RCV000595375 |
2114 | G>S | Rubinstein-Taybi syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000806094 rs772003652 RCV003144628 |
2128 | Q>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs772003652 RCV001916982 |
2128 | Q>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2151304304 RCV001563617 |
2130 | Q>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs797045500 RCV000856888 |
2132 | G>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001245026 rs2051819669 |
2135 | Q>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs797045500 RCV000192313 CA276936 |
2140 | Q>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV003394138 RCV001552492 rs758386187 RCV003759059 |
2145 | M>V | CREBBP-related condition Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1596783639 RCV000856797 |
2146 | Q>* | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001070419 RCV002365779 rs147448293 |
2149 | V>M | Rubinstein-Taybi syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003456371 rs587783512 RCV003390831 CA271440 RCV000145778 RCV003758698 RCV002492531 |
2150 | P>L | CREBBP-related condition Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002317445 rs773348705 |
2152 | P>A | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001270736 rs773348705 |
2152 | P>S | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003398725 RCV002316343 RCV000120605 rs587778214 CA158193 |
2175 | N>S | CREBBP-related condition Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002490709 CA222705 rs398124149 RCV000081065 |
2184 | S>G | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1358192617 RCV002273346 |
2186 | N>I | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002275595 rs2151303211 |
2187 | P>S | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
COSM1202269 RCV002050214 rs765821935 |
2199 | Q>L | Variant assessed as Somatic; MODERATE impact. Rubinstein-Taybi syndrome large_intestine [NCI-TCGA, ClinVar, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002316928 COSM96470 RCV000145779 rs142545779 RCV001573863 RCV000864419 CA171804 |
2208 | Q>H | Rubinstein-Taybi syndrome haematopoietic_and_lymphoid_tissue Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP TOPMed dbSNP gnomAD |
|
RCV002222270 rs778507028 RCV002047742 |
2209 | Q>missing | Global developmental delay Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001968873 rs2151302749 |
2211 | Q>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002570499 RCV001252204 rs763108828 RCV002366091 RCV003142225 |
2213 | Q>missing | Intellectual disability Rubinstein-Taybi syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7869060 rs750150018 RCV000969805 RCV001566817 RCV000331137 |
2213 | Q>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001548133 rs746121736 RCV002568297 |
2214 | Q>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA179938 RCV000153114 RCV002478445 rs727503890 |
2214 | Q>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV002544061 rs746121736 RCV002489768 RCV001763568 |
2215 | Q>missing | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar dbSNP |
|
CA202520 RCV002500589 rs779647460 RCV000193510 RCV002517926 RCV002314797 |
2216 | Q>missing | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV002317455 rs1567260749 |
2216 | Q>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002539668 rs150461438 RCV002538590 RCV001674369 |
2219 | A>V | Rubinstein-Taybi syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002514628 RCV000120608 rs141184151 CA158199 |
2220 | G>S | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001486605 rs200716582 CA7869032 RCV002368012 RCV000591355 |
2221 | M>L | Rubinstein-Taybi syndrome Inborn genetic diseases [ClinVar] | Yes |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP |
|
RCV000514578 rs139688311 CA148146 RCV000081070 RCV001079762 RCV002313778 |
2229 | G>S | Rubinstein-Taybi syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003089204 rs190153828 RCV002226069 |
2243 | A>V | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs753283086 RCV002568331 RCV002368569 RCV001551303 |
2248 | Q>missing | Rubinstein-Taybi syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003758712 RCV000177556 CA243761 rs794727551 |
2249 | R>H | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1191357764 RCV001312288 COSM4504844 |
2255 | P>L | Variant assessed as Somatic; MODERATE impact. Rubinstein-Taybi syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV002533031 rs1306100144 RCV002318650 |
2274 | M>V | Rubinstein-Taybi syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001420558 RCV002554090 rs781438241 |
2280 | G>E | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000484777 RCV003392304 RCV003758779 rs1064793091 CA16620194 |
2294 | R>Q | CREBBP-related condition Variant assessed as Somatic; MODERATE impact. Rubinstein-Taybi syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs587778215 RCV003415910 RCV002515834 RCV000120606 CA158195 |
2319 | H>L | CREBBP-related condition Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001252203 rs2051794294 |
2334 | Q>H | Intellectual disability [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000145780 RCV003593919 CA171806 rs182347573 |
2347 | A>V | Variant assessed as Somatic; MODERATE impact. Rubinstein-Taybi syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000707024 rs766383937 |
2353 | R>missing | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001332436 rs2051790513 |
2373 | P>L | Menke-Hennekam syndrome 1 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002369985 RCV000714678 rs756011865 |
2388 | A>T | Variant assessed as Somatic; MODERATE impact. Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs766962344 RCV001068156 |
2393 | S>T | Rubinstein-Taybi syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs759047530 RCV002476549 RCV001332437 RCV003759046 |
2395 | I>T | Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002515218 rs863223334 CA279194 RCV000201310 RCV002485054 |
2404 | E>K | Variant assessed as Somatic; MODERATE impact. Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Hirschsprung disease, susceptibility to, 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV003416476 rs372005280 RCV001819627 |
2408 | M>V | CREBBP-related condition [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000625603 CA658798522 rs1555470631 |
2421 | S>missing | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000723280 rs895608889 |
2437 | K>N | Rubinstein-Taybi syndrome due to CREBBP mutations [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
| rs2141616688 | 2 | A>G | No | Ensembl | |
| rs757085278 | 2 | A>S | No |
ExAC gnomAD |
|
| TCGA novel | 3 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2141616679 | 3 | E>K | No | Ensembl | |
| rs753627831 | 4 | N>K | No |
ExAC gnomAD |
|
| rs2055491322 | 4 | N>S | No | TOPMed | |
| rs2141616606 | 6 | L>Q | No | Ensembl | |
| rs1023187476 | 6 | L>V | No |
TOPMed gnomAD |
|
| rs375531370 | 7 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs2141616578 | 7 | D>H | No | Ensembl | |
| rs2141616543 | 8 | G>R | No | Ensembl | |
| rs2141616516 | 9 | P>A | No | Ensembl | |
| rs137867843 | 9 | P>L | No |
ESP gnomAD |
|
| rs2141616479 | 10 | P>H | No | Ensembl | |
| rs760605276 | 11 | N>K | No |
ExAC gnomAD |
|
| rs2055490745 | 12 | P>A | No | Ensembl | |
|
COSM1290519 rs2141616410 |
12 | P>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
|
RCV002252559 rs2055490745 |
12 | P>T | No |
ClinVar Ensembl dbSNP |
|
| rs2141616347 | 13 | K>I | No | Ensembl | |
|
RCV001768769 rs2141616347 |
13 | K>R | No |
ClinVar Ensembl dbSNP |
|
| rs1166925008 | 14 | R>I | No | gnomAD | |
| rs1439032753 | 15 | A>G | No |
TOPMed gnomAD |
|
| rs2141616315 | 15 | A>P | No | Ensembl | |
| rs2141616315 | 15 | A>T | No | Ensembl | |
| rs1439032753 | 15 | A>V | No |
TOPMed gnomAD |
|
| rs2141616263 | 16 | K>N | No | Ensembl | |
| rs2141616248 | 17 | L>H | No | Ensembl | |
| rs2141616232 | 18 | S>G | No | Ensembl | |
| rs2055490039 | 18 | S>N | No | TOPMed | |
| rs2141616194 | 19 | S>L | No | Ensembl | |
| rs759137934 | 20 | P>L | No |
ExAC gnomAD |
|
| rs2055489891 | 20 | P>S | No | Ensembl | |
| rs1211983012 | 21 | G>A | No |
TOPMed gnomAD |
|
| rs2141616123 | 21 | G>R | No | Ensembl | |
| rs2141616123 | 21 | G>S | No | Ensembl | |
| rs2055489627 | 23 | S>L | No |
TOPMed gnomAD |
|
| rs2055489627 | 23 | S>W | No |
TOPMed gnomAD |
|
| rs797045501 | 24 | A>G | No | Ensembl | |
| rs762331442 | 24 | A>S | No |
ExAC gnomAD |
|
|
CA208770 rs797045501 RCV000194538 |
24 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2055489264 | 25 | N>K | No | gnomAD | |
| rs2141615991 | 26 | D>N | No | Ensembl | |
| rs878985635 | 27 | S>G | No |
TOPMed gnomAD |
|
| rs769297821 | 27 | S>N | No |
ExAC gnomAD |
|
| rs2055489060 | 27 | S>R | No | gnomAD | |
| rs1289100849 | 28 | T>A | No | gnomAD | |
| rs2141615923 | 28 | T>I | No | Ensembl | |
| rs1289100849 | 28 | T>P | No | gnomAD | |
| rs2141615923 | 28 | T>R | No | Ensembl | |
| rs2141615878 | 29 | D>N | No | Ensembl | |
| rs2141615878 | 29 | D>Y | No | Ensembl | |
| rs2141496874 | 31 | G>V | No | Ensembl | |
|
rs865788612 COSM4414487 |
32 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
| rs772454683 | 32 | S>T | No |
ExAC gnomAD |
|
| rs2141496819 | 33 | L>F | No | Ensembl | |
| rs746019318 | 33 | L>S | No |
ExAC gnomAD |
|
| rs2141496807 | 35 | D>V | No | Ensembl | |
| TCGA novel | 37 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1260576843 | 38 | N>S | No |
TOPMed gnomAD |
|
| rs774359612 | 40 | L>F | No |
ExAC gnomAD |
|
| rs2141496732 | 46 | P>H | No | Ensembl | |
| rs2054822197 | 46 | P>S | No | Ensembl | |
| rs536856848 | 47 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs1258345028 | 49 | G>E | No | gnomAD | |
| rs1323366315 | 52 | G>S | No | gnomAD | |
| rs1220521982 | 53 | L>F | No | gnomAD | |
| rs2141496634 | 53 | L>P | No | Ensembl | |
| rs1464086939 | 54 | L>F | No |
TOPMed gnomAD |
|
| rs1295122362 | 55 | N>K | No | gnomAD | |
| rs201243744 | 56 | S>C | No |
1000Genomes ESP |
|
| rs2141496553 | 56 | S>R | No | Ensembl | |
| rs201243744 | 56 | S>R | No |
1000Genomes ESP |
|
|
COSM703020 rs757504250 |
57 | G>V | lung [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs747862621 | 59 | L>F | No |
ExAC TOPMed gnomAD |
|
| COSM460546 | 61 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs929503319 | 61 | P>T | No |
TOPMed gnomAD |
|
| rs2141496479 | 62 | D>Y | No | Ensembl | |
| rs2141496449 | 63 | A>S | No | Ensembl | |
| rs2141496449 | 63 | A>T | No | Ensembl | |
| rs1186676649 | 63 | A>V | No |
TOPMed gnomAD |
|
| rs754855364 | 64 | A>P | No |
ExAC gnomAD |
|
| rs754855364 | 64 | A>S | No |
ExAC gnomAD |
|
| rs754855364 | 64 | A>T | No |
ExAC gnomAD |
|
| rs1364163978 | 65 | S>C | No | Ensembl | |
| rs1220569951 | 66 | K>N | No | Ensembl | |
| rs2054820935 | 66 | K>R | No | TOPMed | |
| rs751125621 | 67 | H>D | No |
ExAC TOPMed gnomAD |
|
| rs61759496 | 67 | H>R | No | TOPMed | |
|
rs1222729071 TCGA novel |
69 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
TOPMed gnomAD NCI-TCGA |
| rs1465658343 | 69 | Q>K | No |
TOPMed gnomAD |
|
| rs2141496277 | 70 | L>Q | No | Ensembl | |
|
rs2141496254 COSM3420984 |
71 | S>L | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2141496254 | 71 | S>W | No | Ensembl | |
| rs534853661 | 72 | E>D | No |
ExAC gnomAD |
|
| rs2141496230 | 72 | E>K | No | Ensembl | |
| rs2141496206 | 74 | L>V | No | Ensembl | |
|
RCV000175774 rs794727273 CA241537 |
75 | R>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1258706330 | 76 | G>A | No | gnomAD | |
| rs1258706330 | 76 | G>E | No | gnomAD | |
| rs764774054 | 78 | S>G | No |
ExAC gnomAD |
|
| rs764774054 | 78 | S>R | No |
ExAC gnomAD |
|
|
rs145925174 RCV001786560 |
78 | S>R | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1200676852 | 79 | G>D | No | gnomAD | |
|
rs752992134 COSM1301962 |
79 | G>S | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM175509 rs1200676852 |
79 | G>V | large_intestine [Cosmic] | No |
cosmic curated gnomAD |
| rs768084504 | 81 | S>G | No |
ExAC gnomAD |
|
|
rs372793936 RCV001761064 |
81 | S>N | No |
ClinVar TOPMed dbSNP |
|
| rs372793936 | 81 | S>T | No | TOPMed | |
| rs1323691487 | 82 | I>T | No | gnomAD | |
|
RCV001767292 rs374701416 |
82 | I>V | No |
ClinVar ESP ExAC dbSNP gnomAD |
|
|
rs1241593773 COSM21711 |
83 | N>T | lung [Cosmic] | No |
cosmic curated TOPMed gnomAD |
|
RCV002276023 rs2141495910 |
84 | P>missing | No |
ClinVar dbSNP |
|
| rs770952413 | 84 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs1328043737 | 84 | P>R | No |
TOPMed gnomAD |
|
| rs770952413 | 84 | P>S | No |
ExAC TOPMed gnomAD |
|
|
rs2141495853 RCV001816170 |
85 | G>E | No |
ClinVar Ensembl dbSNP |
|
| rs763002215 | 85 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs2141495809 | 87 | G>A | No | Ensembl | |
| rs2141495809 | 87 | G>E | No | Ensembl | |
| TCGA novel | 87 | G>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2141495769 | 88 | N>S | No | Ensembl | |
| rs2054819091 | 88 | N>Y | No | gnomAD | |
| rs1257025481 | 89 | V>E | No |
TOPMed gnomAD |
|
| rs2141495735 | 90 | S>C | No | Ensembl | |
| rs2141495735 | 90 | S>G | No | Ensembl | |
| rs2141495735 | 90 | S>R | No | Ensembl | |
| rs748030826 | 90 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs1395157664 | 91 | A>G | No | gnomAD | |
| rs1395157664 | 91 | A>V | No | gnomAD | |
| rs768640793 | 92 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs746902106 | 92 | S>I | No |
ExAC gnomAD |
|
| rs149092707 | 93 | S>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs149092707 | 93 | S>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs979410323 | 94 | P>L | No | gnomAD | |
| rs2141495482 | 95 | V>E | No | Ensembl | |
| rs2141495482 | 95 | V>G | No | Ensembl | |
| rs756802946 | 95 | V>L | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 96 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2141495440 | 97 | Q>E | No | Ensembl | |
| rs1249950865 | 97 | Q>H | No | gnomAD | |
| rs141982003 | 98 | G>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs141982003 | 98 | G>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs767736927 | 98 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs767736927 | 98 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs1292732731 | 100 | G>C | No |
TOPMed gnomAD |
|
| rs2141495301 | 100 | G>D | No | Ensembl | |
| rs1292732731 | 100 | G>S | No |
TOPMed gnomAD |
|
| rs2141495270 | 101 | G>D | No | Ensembl | |
| rs2141495270 | 101 | G>V | No | Ensembl | |
| rs2054817509 | 102 | Q>R | No | TOPMed | |
| rs2054817460 | 103 | A>G | No | TOPMed | |
| rs2141495220 | 103 | A>T | No | Ensembl | |
| rs2054817460 | 103 | A>V | No | TOPMed | |
| rs2141495172 | 104 | Q>E | No | Ensembl | |
| rs1356986971 | 104 | Q>R | No | gnomAD | |
| rs764200811 | 106 | Q>H | No |
TOPMed gnomAD |
|
| rs2141495089 | 107 | P>A | No | Ensembl | |
| rs2141495089 | 107 | P>S | No | Ensembl | |
| rs773148724 | 110 | A>T | No |
ExAC gnomAD |
|
| rs770066138 | 111 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs761872711 | 111 | N>S | No | ExAC | |
| rs761872711 | 111 | N>T | No | ExAC | |
| rs1350189116 | 112 | M>I | No | TOPMed | |
| rs1422303916 | 112 | M>T | No | gnomAD | |
| rs1020621997 | 112 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs768521035 | 113 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs2141494929 | 113 | A>T | No | Ensembl | |
| rs768521035 | 113 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs2141494892 | 115 | L>P | No | Ensembl | |
| TCGA novel | 116 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2141494857 | 116 | S>T | No | Ensembl | |
| rs772122988 | 117 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs374742063 | 117 | A>S | No |
ESP ExAC gnomAD |
|
| rs374742063 | 117 | A>T | No |
ESP ExAC gnomAD |
|
| rs772122988 | 117 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs2141494791 | 118 | M>K | No | Ensembl | |
| TCGA novel | 118 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2141494780 | 119 | G>S | No | Ensembl | |
|
COSM1377864 rs2054816235 |
119 | G>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2141494742 | 120 | K>N | No | Ensembl | |
| rs2141494759 | 120 | K>T | No | Ensembl | |
| rs1179802260 | 121 | S>C | No | gnomAD | |
| rs2141494721 | 121 | S>N | No | Ensembl | |
| rs745398579 | 122 | P>S | No |
ExAC gnomAD |
|
| rs1309960161 | 124 | S>G | No | TOPMed | |
| rs756967439 | 124 | S>I | No |
ExAC gnomAD |
|
| rs756967439 | 124 | S>N | No |
ExAC gnomAD |
|
| rs2054815760 | 125 | Q>* | No | Ensembl | |
| rs2141494609 | 125 | Q>H | No | Ensembl | |
| rs1013296805 | 125 | Q>R | No |
TOPMed gnomAD |
|
| rs2141494585 | 126 | G>A | No | Ensembl | |
| rs55790011 | 128 | S>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs777456830 | 128 | S>P | No |
ExAC TOPMed gnomAD |
|
| rs777456830 | 128 | S>T | No |
ExAC TOPMed gnomAD |
|
|
COSM4816636 rs1316551993 |
129 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
| rs1333746955 | 130 | A>D | No |
TOPMed gnomAD |
|
| rs2141494498 | 130 | A>P | No | Ensembl | |
| rs1333746955 | 130 | A>V | No |
TOPMed gnomAD |
|
| rs2054815192 | 131 | P>H | No | Ensembl | |
| COSM3509570 | 131 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 132 | S>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs983063124 | 132 | S>I | No |
TOPMed gnomAD |
|
| rs983063124 | 132 | S>N | No |
TOPMed gnomAD |
|
| rs2054815027 | 132 | S>R | No |
TOPMed gnomAD |
|
| rs983063124 | 132 | S>T | No |
TOPMed gnomAD |
|
|
rs950454435 RCV001767702 |
134 | P>L | No |
ClinVar dbSNP gnomAD |
|
| rs751913329 | 134 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs1234857463 | 135 | K>Q | No | gnomAD | |
| rs121434624 | 136 | Q>E | No |
1000Genomes TOPMed |
|
| COSM6144604 | 136 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1402755407 | 137 | A>G | No |
TOPMed gnomAD |
|
| rs1282017376 | 137 | A>P | No | gnomAD | |
| rs1282017376 | 137 | A>T | No | gnomAD | |
| rs1402755407 | 137 | A>V | No |
TOPMed gnomAD |
|
| rs2054814255 | 138 | A>G | No |
TOPMed gnomAD |
|
| rs750523670 | 138 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs750523670 | 138 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs2054814255 | 138 | A>V | No |
TOPMed gnomAD |
|
| rs2054814094 | 139 | S>G | No |
TOPMed gnomAD |
|
| rs1374207312 | 139 | S>T | No | TOPMed | |
| rs776767724 | 140 | T>I | No |
ExAC gnomAD |
|
| rs2141494176 | 140 | T>P | No | Ensembl | |
| rs573905785 | 141 | S>C | No |
1000Genomes ExAC gnomAD |
|
| rs1198733770 | 142 | G>A | No |
TOPMed gnomAD |
|
| rs1198733770 | 142 | G>E | No |
TOPMed gnomAD |
|
| rs2054813624 | 143 | P>R | No | TOPMed | |
| rs2141494111 | 143 | P>S | No | Ensembl | |
| rs1479590501 | 144 | T>A | No |
TOPMed gnomAD |
|
| rs1265580155 | 144 | T>I | No | gnomAD | |
| rs1479590501 | 144 | T>P | No |
TOPMed gnomAD |
|
| rs1479590501 | 144 | T>S | No |
TOPMed gnomAD |
|
| rs1322678057 | 145 | P>A | No |
TOPMed gnomAD |
|
| rs1322678057 | 145 | P>S | No |
TOPMed gnomAD |
|
| rs371248444 | 146 | A>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs371248444 | 146 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs2141493940 | 147 | A>P | No | Ensembl | |
| rs2141493940 | 147 | A>S | No | Ensembl | |
| rs2141493940 | 147 | A>T | No | Ensembl | |
| rs2141493929 | 147 | A>V | No | Ensembl | |
| rs2141493880 | 148 | S>C | No | Ensembl | |
| rs2141493892 | 148 | S>P | No | Ensembl | |
| rs2141493892 | 148 | S>T | No | Ensembl | |
|
rs2141493833 TCGA novel |
149 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2141493821 | 149 | Q>H | No | Ensembl | |
| rs2141493833 | 149 | Q>K | No | Ensembl | |
| rs2141493808 | 150 | A>P | No | Ensembl | |
| rs2141493808 | 150 | A>S | No | Ensembl | |
| rs748797469 | 151 | L>P | No |
ExAC gnomAD |
|
| rs748797469 | 151 | L>Q | No |
ExAC gnomAD |
|
| rs377694036 | 151 | L>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs777465899 | 152 | N>D | No |
ExAC gnomAD |
|
| rs2141493699 | 152 | N>I | No | Ensembl | |
| rs777465899 | 152 | N>Y | No |
ExAC gnomAD |
|
| rs1731896343 | 153 | P>A | No | Ensembl | |
| rs146538907 | 153 | P>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1731896343 | 153 | P>S | No | Ensembl | |
| rs2141493606 | 154 | Q>* | No | Ensembl | |
| rs2141493576 | 154 | Q>H | No | Ensembl | |
| rs2141493589 | 154 | Q>L | No | Ensembl | |
| TCGA novel | 155 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs780333650 | 155 | A>P | No |
ExAC gnomAD |
|
|
TCGA novel rs780333650 |
155 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC gnomAD |
| rs780333650 | 155 | A>T | No |
ExAC gnomAD |
|
| rs999522990 | 155 | A>V | No | gnomAD | |
|
COSM88757 rs2054812348 |
156 | Q>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs2054812348 | 156 | Q>E | No |
TOPMed gnomAD |
|
| rs2141493488 | 156 | Q>H | No | Ensembl | |
| rs758936976 | 156 | Q>L | No |
ExAC TOPMed gnomAD |
|
| rs2141493479 | 157 | K>M | No | Ensembl | |
| rs2141493430 | 158 | Q>* | No | Ensembl | |
| rs2141493430 | 158 | Q>E | No | Ensembl | |
| rs1407415875 | 158 | Q>H | No | gnomAD | |
| rs1597053897 | 159 | V>E | No | Ensembl | |
| rs1597053897 | 159 | V>G | No | Ensembl | |
| rs1175854793 | 159 | V>L | No | gnomAD | |
| rs1175854793 | 159 | V>M | No | gnomAD | |
| rs2141493329 | 160 | G>A | No | Ensembl | |
| rs2141493329 | 160 | G>E | No | Ensembl | |
| rs2141493353 | 160 | G>R | No | Ensembl | |
| rs2141493329 | 160 | G>V | No | Ensembl | |
| rs2141493353 | 160 | G>W | No | Ensembl | |
| rs765754292 | 161 | L>Q | No | ExAC | |
| rs765754292 | 161 | L>R | No | ExAC | |
| rs2141493248 | 162 | A>S | No | Ensembl | |
| rs2141493248 | 162 | A>T | No | Ensembl | |
| rs757321118 | 162 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs2141493181 | 163 | T>N | No | Ensembl | |
| rs2141493196 | 163 | T>P | No | Ensembl | |
| rs2141493196 | 163 | T>S | No | Ensembl | |
| rs2141493181 | 163 | T>S | No | Ensembl | |
| rs2054811449 | 164 | S>C | No | TOPMed | |
| rs2054811449 | 164 | S>G | No | TOPMed | |
| rs2141493137 | 164 | S>I | No | Ensembl | |
| rs2141493137 | 164 | S>N | No | Ensembl | |
| rs1267525359 | 164 | S>R | No |
TOPMed gnomAD |
|
| rs2141493137 | 164 | S>T | No | Ensembl | |
| rs2141493115 | 165 | S>C | No | Ensembl | |
| rs1487619883 | 165 | S>I | No |
TOPMed gnomAD |
|
| rs1487619883 | 165 | S>N | No |
TOPMed gnomAD |
|
| rs369771502 | 165 | S>R | No |
ESP ExAC gnomAD |
|
| rs1487619883 | 165 | S>T | No |
TOPMed gnomAD |
|
| rs760912343 | 166 | P>A | No |
ExAC gnomAD |
|
|
rs374119348 CA215984 RCV000050244 |
166 | P>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs374119348 | 166 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs760912343 | 166 | P>T | No |
ExAC gnomAD |
|
| rs944810089 | 167 | A>D | No |
TOPMed gnomAD |
|
| rs944810089 | 167 | A>G | No |
TOPMed gnomAD |
|
| rs1242423773 | 167 | A>P | No |
TOPMed gnomAD |
|
| rs1242423773 | 167 | A>S | No |
TOPMed gnomAD |
|
| rs1242423773 | 167 | A>T | No |
TOPMed gnomAD |
|
| rs944810089 | 167 | A>V | No |
TOPMed gnomAD |
|
| rs772863270 | 168 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs2054810985 | 168 | T>P | No | TOPMed | |
| rs772863270 | 168 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs2054810985 | 168 | T>S | No | TOPMed | |
| rs2141492896 | 169 | S>* | No | Ensembl | |
| rs2141492910 | 169 | S>A | No | Ensembl | |
| rs2141492896 | 169 | S>L | No | Ensembl | |
| rs2141492910 | 169 | S>P | No | Ensembl | |
| rs2141492910 | 169 | S>T | No | Ensembl | |
| rs1555496560 | 170 | Q>E | No | Ensembl | |
| rs748802681 | 170 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs770893966 | 170 | Q>L | No |
ExAC TOPMed gnomAD |
|
| rs770893966 | 170 | Q>P | No |
ExAC TOPMed gnomAD |
|
| rs2141492779 | 171 | T>I | No | Ensembl | |
| rs2141492779 | 171 | T>S | No | Ensembl | |
| rs2141492795 | 171 | T>S | No | Ensembl | |
| rs772655917 | 172 | G>A | No |
ExAC gnomAD |
|
| rs772655917 | 172 | G>E | No |
ExAC gnomAD |
|
| rs2141492755 | 172 | G>R | No | Ensembl | |
| rs2141492705 | 173 | P>A | No | Ensembl | |
| rs369081129 | 173 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs369081129 | 173 | P>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2141492634 | 174 | G>A | No | Ensembl | |
| rs2141492634 | 174 | G>D | No | Ensembl | |
|
COSM557986 COSM6079253 rs2141492665 |
174 | G>R | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic Ensembl |
| rs2141492665 | 174 | G>S | No | Ensembl | |
| rs1356359932 | 175 | I>F | No | gnomAD | |
| rs1356359932 | 175 | I>L | No | gnomAD | |
| rs2054810140 | 175 | I>M | No | gnomAD | |
| rs2054810195 | 175 | I>S | No | TOPMed | |
| rs1356359932 | 175 | I>V | No | gnomAD | |
| rs2141492511 | 176 | C>* | No | Ensembl | |
| rs1050887843 | 176 | C>F | No |
TOPMed gnomAD |
|
| TCGA novel | 176 | C>M | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2141492549 | 176 | C>R | No | Ensembl | |
| rs1050887843 | 176 | C>S | No |
TOPMed gnomAD |
|
| rs2141492549 | 176 | C>S | No | Ensembl | |
| rs2141492511 | 176 | C>W | No | Ensembl | |
| rs1050887843 | 176 | C>Y | No |
TOPMed gnomAD |
|
| rs2054809923 | 177 | M>I | No | TOPMed | |
| rs1417613322 | 177 | M>K | No | gnomAD | |
| rs780421523 | 177 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs1417613322 | 177 | M>T | No | gnomAD | |
| rs780421523 | 177 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs2141492428 | 178 | N>K | No | Ensembl | |
| rs2141492444 | 178 | N>Y | No | Ensembl | |
| rs2141492400 | 179 | A>G | No | Ensembl | |
| rs758740001 | 179 | A>P | No |
ExAC gnomAD |
|
| rs758740001 | 179 | A>S | No |
ExAC gnomAD |
|
|
rs758740001 COSM4060720 |
179 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs2141492400 | 179 | A>V | No | Ensembl | |
| rs2141492369 | 180 | N>D | No | Ensembl | |
| rs2141492351 | 180 | N>I | No | Ensembl | |
| rs2141492351 | 180 | N>T | No | Ensembl | |
| rs2141492369 | 180 | N>Y | No | Ensembl | |
| TCGA novel | 181 | F>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2141492335 | 181 | F>I | No | Ensembl | |
| rs2141492335 | 181 | F>L | No | Ensembl | |
| TCGA novel | 181 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs780814837 | 181 | F>L | No | Ensembl | |
| rs2141492295 | 182 | N>I | No | Ensembl | |
| rs2054809738 | 182 | N>K | No | TOPMed | |
| rs2141492295 | 182 | N>S | No | Ensembl | |
| rs2141492295 | 182 | N>T | No | Ensembl | |
| rs2141492261 | 183 | Q>* | No | Ensembl | |
| rs2141492261 | 183 | Q>E | No | Ensembl | |
| rs1445018490 | 183 | Q>H | No | gnomAD | |
| rs2141492261 | 183 | Q>K | No | Ensembl | |
| rs2141492202 | 184 | T>A | No | Ensembl | |
| rs2141492183 | 184 | T>I | No | Ensembl | |
| rs2141492202 | 184 | T>P | No | Ensembl | |
| rs2141492183 | 184 | T>S | No | Ensembl | |
| rs2141492202 | 184 | T>S | No | Ensembl | |
| rs2141492133 | 185 | H>D | No | Ensembl | |
|
TCGA novel rs2141492133 |
185 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs1457107041 | 186 | P>A | No |
TOPMed gnomAD |
|
| rs1289020222 | 186 | P>L | No | TOPMed | |
| rs1289020222 | 186 | P>Q | No | TOPMed | |
| rs1289020222 | 186 | P>R | No | TOPMed | |
| rs1457107041 | 186 | P>S | No |
TOPMed gnomAD |
|
| rs1457107041 | 186 | P>T | No |
TOPMed gnomAD |
|
| rs2141492058 | 187 | G>C | No | Ensembl | |
| rs2141492058 | 187 | G>R | No | Ensembl | |
| TCGA novel | 187 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2141492043 | 187 | G>V | No | Ensembl | |
| rs1181685618 | 188 | L>F | No |
TOPMed gnomAD |
|
| rs1386539750 | 188 | L>H | No | TOPMed | |
| rs1181685618 | 188 | L>I | No |
TOPMed gnomAD |
|
| rs1386539750 | 188 | L>P | No | TOPMed | |
| rs2141491962 | 189 | L>F | No | Ensembl | |
| rs2141491949 | 189 | L>H | No | Ensembl | |
| rs936031589 | 190 | N>D | No | TOPMed | |
| COSM3509569 | 190 | N>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1383433204 | 190 | N>K | No |
TOPMed gnomAD |
|
| rs779356613 | 190 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs2141491845 | 191 | S>C | No | Ensembl | |
| rs757724663 | 191 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs2141491804 | 191 | S>R | No | Ensembl | |
| rs757724663 | 191 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs2141491781 | 192 | N>I | No | Ensembl | |
|
rs2141491760 COSM1629891 |
192 | N>K | liver [Cosmic] | No |
cosmic curated Ensembl |
| rs944567596 | 193 | S>A | No | Ensembl | |
|
rs2141491711 COSM3817965 |
193 | S>C | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2141491711 | 193 | S>F | No | Ensembl | |
| rs944567596 | 193 | S>T | No | Ensembl | |
| rs753970491 | 194 | G>A | No |
ExAC gnomAD |
|
|
TCGA novel rs753970491 |
194 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC gnomAD |
| rs2141491686 | 194 | G>S | No | Ensembl | |
| rs753970491 | 194 | G>V | No |
ExAC gnomAD |
|
| rs2141491591 | 195 | H>D | No | Ensembl | |
| rs2141491591 | 195 | H>N | No | Ensembl | |
| rs369030555 | 195 | H>P | No | TOPMed | |
| rs2054808653 | 195 | H>Q | No | TOPMed | |
| rs369030555 | 195 | H>R | No | TOPMed | |
| rs2141491591 | 195 | H>Y | No | Ensembl | |
| rs777958380 | 196 | S>I | No |
ExAC gnomAD |
|
| rs777958380 | 196 | S>N | No |
ExAC gnomAD |
|
| rs374787629 | 196 | S>R | No |
ESP ExAC gnomAD |
|
| rs777958380 | 196 | S>T | No |
ExAC gnomAD |
|
| rs2141491475 | 197 | L>* | No | Ensembl | |
| rs925171469 | 197 | L>F | No |
TOPMed gnomAD |
|
| rs2054808403 | 197 | L>I | No | Ensembl | |
|
rs2054808403 RCV001091533 |
197 | L>V | No |
ClinVar Ensembl dbSNP |
|
| rs753014390 | 198 | I>F | No | ExAC | |
| rs2141491417 | 198 | I>N | No | Ensembl | |
| rs753014390 | 198 | I>V | No | ExAC | |
| rs979375823 | 199 | N>I | No | TOPMed | |
| rs979375823 | 199 | N>S | No | TOPMed | |
| rs2141491378 | 199 | N>Y | No | Ensembl | |
| rs587783509 | 200 | Q>E | No | Ensembl | |
| rs2141491293 | 200 | Q>H | No | Ensembl | |
| rs2141491316 | 200 | Q>L | No | Ensembl | |
| rs2141491316 | 200 | Q>R | No | Ensembl | |
| rs2141491253 | 201 | A>G | No | Ensembl | |
| rs374738860 | 201 | A>P | No | Ensembl | |
| rs374738860 | 201 | A>S | No | Ensembl | |
| rs374738860 | 201 | A>T | No | Ensembl | |
| rs2141491253 | 201 | A>V | No | Ensembl | |
| rs1298871021 | 202 | S>* | No | gnomAD | |
| rs1298871021 | 202 | S>L | No | gnomAD | |
| rs2141491172 | 203 | Q>* | No | Ensembl | |
| rs2141491172 | 203 | Q>E | No | Ensembl | |
| rs2141491172 | 203 | Q>K | No | Ensembl | |
| rs2141491148 | 203 | Q>R | No | Ensembl | |
| rs2141491106 | 204 | G>V | No | Ensembl | |
| rs2054807926 | 204 | G>W | No | Ensembl | |
| rs1597053504 | 205 | Q>E | No | Ensembl | |
| rs1597053504 | 205 | Q>K | No | Ensembl | |
| rs2141491046 | 205 | Q>L | No | Ensembl | |
| rs2141491046 | 205 | Q>R | No | Ensembl | |
| rs759312345 | 206 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs2054807711 | 206 | A>S | No | gnomAD | |
| rs2054807711 | 206 | A>T | No | gnomAD | |
|
rs759312345 COSM2920065 |
206 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs2141490963 | 207 | Q>R | No | Ensembl | |
| rs2141490941 | 208 | V>D | No | Ensembl | |
| rs2141490941 | 208 | V>G | No | Ensembl | |
| rs2141490888 | 209 | M>I | No | Ensembl | |
| rs2141490909 | 209 | M>T | No | Ensembl | |
| rs2141490854 | 210 | N>K | No | Ensembl | |
| rs766245407 | 210 | N>S | No |
ExAC gnomAD |
|
| rs766245407 | 210 | N>T | No |
ExAC gnomAD |
|
| rs2141490831 | 211 | G>* | No | Ensembl | |
| rs2141490805 | 211 | G>A | No | Ensembl | |
| rs2141490805 | 211 | G>E | No | Ensembl | |
| rs2141490831 | 211 | G>R | No | Ensembl | |
| rs2141490805 | 211 | G>V | No | Ensembl | |
| rs2141490765 | 212 | S>C | No | Ensembl | |
| rs2141490765 | 212 | S>F | No | Ensembl | |
| COSM460547 | 213 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2141490713 | 213 | L>H | No | Ensembl | |
| rs2141490732 | 213 | L>V | No | Ensembl | |
| rs2141490677 | 214 | G>R | No | Ensembl | |
| rs2141490610 | 215 | A>G | No | Ensembl | |
| rs2141490635 | 215 | A>P | No | Ensembl | |
| rs2141490635 | 215 | A>S | No | Ensembl | |
| rs2141490610 | 215 | A>V | No | Ensembl | |
| rs2141490547 | 216 | A>G | No | Ensembl | |
| rs2141490582 | 216 | A>T | No | Ensembl | |
| rs2141490547 | 216 | A>V | No | Ensembl | |
| rs2141490493 | 217 | G>D | No | Ensembl | |
| rs2141490516 | 217 | G>S | No | Ensembl | |
| rs2141490493 | 217 | G>V | No | Ensembl | |
| rs966483710 | 218 | R>G | No |
TOPMed gnomAD |
|
| rs2141490444 | 218 | R>K | No | Ensembl | |
| rs2141490418 | 219 | G>A | No | Ensembl | |
| rs2141490418 | 219 | G>V | No | Ensembl | |
| rs2141490401 | 220 | R>M | No | Ensembl | |
| rs2141490392 | 221 | G>E | No | Ensembl | |
| rs2054807151 | 222 | A>S | No | Ensembl | |
| rs2054807151 | 222 | A>T | No | Ensembl | |
| rs2141490347 | 222 | A>V | No | Ensembl | |
| rs769247311 | 223 | G>R | No |
ExAC gnomAD |
|
|
COSM4830676 rs776306844 |
225 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs776306844 | 225 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs776306844 | 225 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs2054806920 | 225 | P>S | No | TOPMed | |
| rs2141490232 | 226 | Y>D | No | Ensembl | |
| rs1597053390 | 226 | Y>S | No | Ensembl | |
| rs1337008533 | 227 | P>H | No |
TOPMed gnomAD |
|
| rs1337008533 | 227 | P>R | No |
TOPMed gnomAD |
|
| rs746276334 | 227 | P>S | No |
ExAC gnomAD |
|
| COSM703021 | 228 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2141490144 | 228 | T>I | No | Ensembl | |
| rs2054806336 | 228 | T>P | No |
TOPMed gnomAD |
|
| rs2054806336 | 228 | T>S | No |
TOPMed gnomAD |
|
| rs771371997 | 229 | P>A | No |
ExAC gnomAD |
|
| rs2141490125 | 229 | P>L | No | Ensembl | |
| rs771371997 | 229 | P>S | No |
ExAC gnomAD |
|
| rs1308338382 | 230 | A>G | No | gnomAD | |
| rs960471825 | 230 | A>S | No | TOPMed | |
| rs1308338382 | 230 | A>V | No | gnomAD | |
| rs2054806033 | 231 | M>I | No | TOPMed | |
| rs2054806099 | 231 | M>T | No | TOPMed | |
|
rs1223352226 COSM88758 |
232 | Q>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated gnomAD |
| rs1223352226 | 232 | Q>E | No | gnomAD | |
| rs2054805834 | 232 | Q>H | No | gnomAD | |
| rs1227837733 | 233 | G>D | No | gnomAD | |
| rs1371299493 | 233 | G>R | No | gnomAD | |
| rs1371299493 | 233 | G>S | No | gnomAD | |
| rs1285192047 | 234 | A>S | No |
TOPMed gnomAD |
|
| rs1285192047 | 234 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs778400698 | 235 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs2141489899 | 235 | S>T | No | Ensembl | |
| rs778400698 | 235 | S>W | No |
ExAC TOPMed gnomAD |
|
| rs1455123577 | 236 | S>R | No | gnomAD | |
| rs146049063 | 237 | S>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1882929418 | 240 | A>S | No | gnomAD | |
| rs1882929418 | 240 | A>T | No | gnomAD | |
| rs751321107 | 240 | A>V | No | ExAC | |
| rs1597053237 | 241 | E>D | No | Ensembl | |
| rs2141489708 | 242 | T>P | No | Ensembl | |
| rs762902238 | 243 | L>I | No |
ExAC gnomAD |
|
| rs2054804497 | 243 | L>P | No | TOPMed | |
| rs1199448193 | 244 | T>A | No | gnomAD | |
| rs750411228 | 244 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs750411228 | 244 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs1212904361 | 246 | V>L | No | TOPMed | |
| rs2054804169 | 247 | S>A | No | Ensembl | |
| rs2141489586 | 247 | S>F | No | Ensembl | |
| rs2054804169 | 247 | S>P | No | Ensembl | |
| rs374499169 | 248 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs374499169 | 248 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs761381106 | 248 | P>S | No |
ExAC gnomAD |
|
| rs761381106 | 248 | P>T | No |
ExAC gnomAD |
|
| rs774599450 | 249 | Q>E | No |
ExAC gnomAD |
|
| rs1178134399 | 249 | Q>H | No | TOPMed | |
| rs774599450 | 249 | Q>K | No |
ExAC gnomAD |
|
|
RCV001758235 rs2054803860 |
249 | Q>R | No |
ClinVar Ensembl dbSNP |
|
| rs2141489461 | 250 | M>I | No | Ensembl | |
| rs2054803732 | 250 | M>V | No | TOPMed | |
| rs897992674 | 251 | T>S | No |
TOPMed gnomAD |
|
| rs2054803591 | 252 | G>S | No |
TOPMed gnomAD |
|
|
rs142268920 COSM109403 |
253 | H>L | skin [Cosmic] | No |
cosmic curated Ensembl |
| rs1224173039 | 253 | H>Y | No | gnomAD | |
| rs199768244 | 254 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1288029673 | 255 | G>R | No |
TOPMed gnomAD |
|
| rs755189683 | 256 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs2054802832 | 257 | N>I | No | Ensembl | |
| rs1597053070 | 258 | T>P | No | Ensembl | |
| rs750216784 | 259 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs750216784 | 259 | A>S | No |
ExAC TOPMed gnomAD |
|
|
COSM970612 rs750216784 |
259 | A>T | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1312108913 | 260 | Q>E | No |
TOPMed gnomAD |
|
| rs1205762806 | 260 | Q>R | No |
TOPMed gnomAD |
|
| rs1567361652 | 261 | A>G | No | Ensembl | |
| rs2141489131 | 261 | A>S | No | Ensembl | |
| rs2141489131 | 261 | A>T | No | Ensembl | |
| rs1567361652 | 261 | A>V | No | Ensembl | |
|
rs2141489090 RCV001597482 |
262 | G>E | No |
ClinVar Ensembl dbSNP |
|
| rs2141489064 | 263 | G>D | No | Ensembl | |
| rs768097716 | 263 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs1262899889 | 264 | M>I | No | gnomAD | |
| rs2054801918 | 264 | M>K | No | TOPMed | |
| rs2054801918 | 264 | M>T | No | TOPMed | |
| rs2054801982 | 264 | M>V | No | Ensembl | |
| rs753319377 | 265 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| COSM4396124 | 266 | K>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2054801647 | 266 | K>E | No | gnomAD | |
| rs1395414046 | 267 | M>I | No | gnomAD | |
| rs765652041 | 267 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs1247636443 | 268 | G>A | No | TOPMed | |
| rs1247636443 | 268 | G>E | No | TOPMed | |
| rs2053923868 | 268 | G>R | No | Ensembl | |
| rs1247636443 | 268 | G>V | No | TOPMed | |
| rs2053923650 | 269 | I>V | No | TOPMed | |
| rs2053923531 | 270 | T>I | No | Ensembl | |
| rs2141347447 | 270 | T>S | No | Ensembl | |
| rs1567331479 | 271 | G>E | No | Ensembl | |
| rs1478444856 | 273 | T>I | No | TOPMed | |
| rs1478444856 | 273 | T>R | No | TOPMed | |
| rs2141347362 | 274 | S>R | No | Ensembl | |
| rs775374550 | 275 | P>A | No |
ExAC gnomAD |
|
| rs978232300 | 275 | P>L | No | gnomAD | |
| rs775374550 | 275 | P>S | No |
ExAC gnomAD |
|
| rs2053922967 | 276 | F>S | No | TOPMed | |
| rs2141347292 | 277 | G>* | No | Ensembl | |
| rs2141347264 | 278 | Q>* | No | Ensembl | |
| rs989859922 | 279 | P>H | No | TOPMed | |
| rs989859922 | 279 | P>L | No | TOPMed | |
| rs2053922702 | 283 | A>D | No | gnomAD | |
| rs2053922702 | 283 | A>V | No | gnomAD | |
| rs779084093 | 284 | G>A | No |
ExAC gnomAD |
|
| rs1184155513 | 284 | G>R | No | gnomAD | |
| rs779084093 | 284 | G>V | No |
ExAC gnomAD |
|
| TCGA novel | 285 | G>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2141347177 | 285 | G>V | No | Ensembl | |
| rs2141347192 | 285 | G>W | No | Ensembl | |
|
rs2141347149 TCGA novel |
286 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| COSM1324451 | 286 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2141347128 | 287 | P>S | No | Ensembl | |
| rs749031320 | 288 | M>L | No |
ExAC gnomAD |
|
| rs749031320 | 288 | M>V | No |
ExAC gnomAD |
|
| rs2141347097 | 289 | G>E | No | Ensembl | |
| rs777820914 | 289 | G>R | No |
ExAC gnomAD |
|
| rs557475824 | 290 | A>T | No |
1000Genomes ExAC gnomAD |
|
| rs1292260807 | 290 | A>V | No | gnomAD | |
| rs2141347063 | 291 | T>P | No | Ensembl | |
| rs1221437386 | 291 | T>S | No | gnomAD | |
| rs2141347047 | 292 | G>R | No | Ensembl | |
| rs752252706 | 292 | G>V | No |
ExAC TOPMed gnomAD |
|
|
COSM471712 rs1239213391 |
293 | V>A | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs1281210911 | 293 | V>M | No | gnomAD | |
| rs1304151219 | 295 | P>T | No | gnomAD | |
|
RCV000729939 rs1567331357 |
296 | Q>missing | No |
ClinVar dbSNP |
|
| rs2141346937 | 296 | Q>K | No | Ensembl | |
| rs2053921374 | 296 | Q>P | No | TOPMed | |
| rs2141346915 | 298 | A>V | No | Ensembl | |
| rs2141346890 | 299 | S>N | No | Ensembl | |
|
COSM1519208 rs2141346866 COSM6144606 |
301 | Q>H | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated Ensembl NCI-TCGA Cosmic |
| rs1275745051 | 302 | S>R | No |
TOPMed gnomAD |
|
|
CA222707 RCV000081074 rs398124150 |
304 | V>missing | No |
ClinGen ClinVar dbSNP |
|
| rs1468105102 | 304 | V>D | No | gnomAD | |
| rs1468105102 | 304 | V>G | No | gnomAD | |
|
rs766101764 COSM3420983 |
304 | V>I | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs2141346767 | 307 | L>F | No | Ensembl | |
| rs369505762 | 308 | P>A | No |
ESP TOPMed gnomAD |
|
| rs369505762 | 308 | P>S | No |
ESP TOPMed gnomAD |
|
| rs2141346734 | 309 | T>S | No | Ensembl | |
|
COSM4990892 rs2141346705 |
311 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs764674912 | 312 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2053920538 | 312 | T>I | No | Ensembl | |
| rs764674912 | 312 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs772188901 | 314 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs762450931 | 314 | I>T | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 315 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs759578786 | 315 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs2053920160 | 317 | T>I | No | TOPMed | |
| rs587783516 | 318 | S>L | No | Ensembl | |
| rs910148093 | 318 | S>T | No |
TOPMed gnomAD |
|
| rs2053919851 | 319 | V>F | No | gnomAD | |
| rs2053919851 | 319 | V>L | No | gnomAD | |
| rs1449645780 | 320 | T>I | No | gnomAD | |
| rs2141346469 | 321 | N>H | No | Ensembl | |
| rs372657355 | 321 | N>S | No |
ESP ExAC gnomAD |
|
|
rs587778212 CA158190 RCV000120603 |
322 | V>L | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs587778212 | 322 | V>M | No |
TOPMed gnomAD |
|
| rs769798406 | 323 | P>S | No |
ExAC gnomAD |
|
|
COSM4940015 RCV001774461 rs747990896 |
325 | M>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA dbSNP gnomAD |
| rs922666325 | 325 | M>T | No | TOPMed | |
|
COSM471711 rs1311466278 |
326 | S>F | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs2053549462 | 327 | Q>* | No | Ensembl | |
| rs2053549401 | 327 | Q>R | No | Ensembl | |
| rs1421889824 | 328 | M>I | No | gnomAD | |
| rs1212843258 | 331 | S>L | No | TOPMed | |
| rs2053548956 | 332 | V>A | No | Ensembl | |
| rs1414509050 | 332 | V>L | No | gnomAD | |
| rs1414509050 | 332 | V>M | No | gnomAD | |
| rs1596948165 | 333 | G>R | No | Ensembl | |
| rs2053548814 | 333 | G>V | No | Ensembl | |
| rs2053548710 | 335 | V>I | No |
TOPMed gnomAD |
|
| rs2053548710 | 335 | V>L | No |
TOPMed gnomAD |
|
| rs2053548639 | 336 | P>L | No | TOPMed | |
| rs2053548639 | 336 | P>R | No | TOPMed | |
| rs2141286348 | 336 | P>S | No | Ensembl | |
| rs2053548587 | 337 | T>A | No | Ensembl | |
| rs2141286312 | 337 | T>R | No | Ensembl | |
| rs200496580 | 339 | A>G | No |
1000Genomes TOPMed |
|
| rs200496580 | 339 | A>V | No |
1000Genomes TOPMed |
|
| rs2053548301 | 340 | I>T | No | Ensembl | |
| rs1485271729 | 340 | I>V | No |
TOPMed gnomAD |
|
| rs2141286255 | 341 | A>T | No | Ensembl | |
| rs755408011 | 341 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1182475760 | 342 | T>A | No |
TOPMed gnomAD |
|
| rs2053548063 | 343 | G>D | No | Ensembl | |
| rs2053548113 | 343 | G>R | No | TOPMed | |
| rs2053548113 | 343 | G>S | No | TOPMed | |
| rs2053548063 | 343 | G>V | No | Ensembl | |
| rs2141286184 | 344 | P>H | No | Ensembl | |
| rs2141286166 | 345 | T>I | No | Ensembl | |
| rs2141286154 | 346 | A>S | No | Ensembl | |
| rs2141286154 | 346 | A>T | No | Ensembl | |
| rs2141286143 | 346 | A>V | No | Ensembl | |
| rs2141286106 | 347 | D>H | No | Ensembl | |
| rs2141286106 | 347 | D>Y | No | Ensembl | |
| rs2053547866 | 348 | P>L | No | TOPMed | |
| rs2141286097 | 348 | P>S | No | Ensembl | |
| rs763070109 | 351 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
|
RCV001774079 rs763070109 |
351 | R>P | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs765494505 | 353 | L>V | No |
ExAC gnomAD |
|
| rs1384119979 | 354 | I>L | No | gnomAD | |
| rs1384119979 | 354 | I>V | No | gnomAD | |
| rs1567318022 | 355 | Q>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2141285980 | 356 | Q>* | No | Ensembl | |
| rs2141285963 | 356 | Q>H | No | Ensembl | |
| rs2141285944 | 358 | L>V | No | Ensembl | |
| rs994731236 | 360 | L>V | No | Ensembl | |
| rs1429272561 | 362 | L>I | No | gnomAD | |
| rs2141285854 | 363 | H>Y | No | Ensembl | |
| rs2141285841 | 364 | A>T | No | Ensembl | |
| rs2141285831 | 364 | A>V | No | Ensembl | |
| rs1567317969 | 366 | K>N | No | Ensembl | |
| rs2141285788 | 367 | C>* | No | Ensembl | |
|
CA16042987 rs1057518498 RCV000414631 |
367 | C>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2141285801 | 367 | C>S | No | Ensembl | |
| COSM970610 | 369 | R>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2141285768 | 369 | R>G | No | Ensembl | |
| rs1384496494 | 370 | R>G | No |
TOPMed gnomAD |
|
| rs1179677806 | 370 | R>L | No |
TOPMed gnomAD |
|
| rs1179677806 | 370 | R>Q | No |
TOPMed gnomAD |
|
| rs2141285711 | 372 | Q>* | No | Ensembl | |
| rs2141285697 | 373 | A>T | No | Ensembl | |
| rs2141285682 | 373 | A>V | No | Ensembl | |
| rs770473055 | 374 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs1203383443 | 374 | N>S | No | gnomAD | |
| rs756844215 | 375 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs2053545587 | 377 | V>G | No | TOPMed | |
| rs2141285598 | 377 | V>I | No | Ensembl | |
| rs1064796292 | 378 | R>G | No | Ensembl | |
|
COSM379083 rs781492264 |
378 | R>Q | lung [Cosmic] | No |
cosmic curated ExAC gnomAD |
|
CA16620208 RCV000483328 rs1064796292 |
378 | R>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000996197 rs1596947691 |
379 | A>S | No |
ClinVar Ensembl dbSNP |
|
| rs1596947691 | 379 | A>T | No | Ensembl | |
| rs2141285538 | 380 | C>Y | No | Ensembl | |
| rs1289774223 | 381 | S>L | No |
TOPMed gnomAD |
|
| rs1158614140 | 381 | S>P | No | gnomAD | |
| rs1555486736 | 382 | L>F | No | Ensembl | |
| rs2141285464 | 382 | L>P | No | Ensembl | |
|
RCV000591296 CA394562732 rs1555486736 |
382 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2053545106 | 383 | P>Q | No | Ensembl | |
| COSM703022 | 383 | P>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2141285442 | 383 | P>S | No | Ensembl | |
| rs2141285402 | 385 | C>Y | No | Ensembl | |
| rs200933101 | 386 | R>Q | No |
1000Genomes ExAC gnomAD |
|
| rs2141285348 | 387 | T>S | No | Ensembl | |
| rs2141285325 | 388 | M>I | No | Ensembl | |
| rs758476806 | 389 | K>R | No |
ExAC gnomAD |
|
| rs2141285295 | 390 | N>D | No | Ensembl | |
|
COSM1324452 rs898347772 |
390 | N>K | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
| TCGA novel | 390 | N>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2141285295 | 390 | N>Y | No | Ensembl | |
| TCGA novel | 391 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772332532 COSM1678810 |
391 | V>I | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
| rs2053544513 | 395 | M>V | No | Ensembl | |
|
rs1425065110 COSM4060718 |
396 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| COSM1644510 | 396 | T>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2141285194 | 400 | A>G | No | Ensembl | |
| rs2141285208 | 400 | A>T | No | Ensembl | |
|
RCV001763984 rs2141285184 |
401 | G>E | No |
ClinVar Ensembl dbSNP |
|
| rs1938565305 | 403 | A>T | No | TOPMed | |
| rs2141285160 | 403 | A>V | No | Ensembl | |
| rs587783462 | 404 | C>F | No | Ensembl | |
|
RCV000145714 CA171785 rs587783462 |
404 | C>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 408 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2141281110 RCV001754853 |
409 | C>F | No |
ClinVar Ensembl dbSNP |
|
| COSM3690998 | 410 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 412 | S>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1202272 rs2053519213 |
413 | R>Q | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs747397981 | 414 | Q>H | No |
ExAC gnomAD |
|
| COSM3509566 | 416 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2053519023 | 417 | S>F | No | Ensembl | |
| TCGA novel | 417 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2053518920 | 418 | H>N | No | TOPMed | |
| rs587783463 | 419 | W>C | No | Ensembl | |
|
COSM254635 rs2141281014 |
420 | K>* | urinary_tract [Cosmic] | No |
cosmic curated Ensembl |
| rs2053518781 | 423 | T>A | No | Ensembl | |
| rs1567316683 | 423 | T>I | No | Ensembl | |
| rs2141280958 | 424 | R>Q | No | Ensembl | |
| rs372786878 | 425 | H>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2141280944 | 425 | H>Y | No | Ensembl | |
| rs2141280910 | 426 | D>E | No | Ensembl | |
| rs1255460442 | 427 | C>Y | No |
TOPMed gnomAD |
|
| rs2141280890 | 430 | C>F | No | Ensembl | |
| rs2053518270 | 433 | L>F | No | gnomAD | |
| rs1432192789 | 435 | N>T | No |
TOPMed gnomAD |
|
|
COSM220976 rs2141280849 |
436 | A>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
| rs1267131448 | 437 | S>G | No |
TOPMed gnomAD |
|
| rs2141280814 | 437 | S>N | No | Ensembl | |
| rs2141280808 | 437 | S>R | No | Ensembl | |
| rs1236650180 | 438 | D>E | No | TOPMed | |
| rs532421401 | 438 | D>N | No | gnomAD | |
| rs1224361693 | 439 | K>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1487159105 | 439 | K>M | No | gnomAD | |
| rs1487159105 | 439 | K>R | No | gnomAD | |
| rs2141280755 | 440 | R>* | No | Ensembl | |
|
COSM178808 rs1208256956 |
440 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA gnomAD |
| rs370225500 | 442 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs2053517680 | 443 | Q>K | No | gnomAD | |
| rs2141253138 | 444 | T>I | No | Ensembl | |
| rs2141280721 | 444 | T>P | No | Ensembl | |
| rs530164542 | 445 | I>L | No |
1000Genomes ExAC gnomAD |
|
| rs757683245 | 447 | G>V | No | gnomAD | |
|
rs2141253079 RCV002267304 |
448 | S>C | No |
ClinVar Ensembl dbSNP |
|
| rs1371598356 | 449 | P>A | No | gnomAD | |
| rs1371598356 | 449 | P>S | No | gnomAD | |
| rs1168304419 | 450 | A>P | No |
TOPMed gnomAD |
|
| rs1168304419 | 450 | A>S | No |
TOPMed gnomAD |
|
| rs2141253037 | 450 | A>V | No | Ensembl | |
| rs2141253014 | 452 | G>A | No | Ensembl | |
| rs2141253014 | 452 | G>E | No | Ensembl | |
| rs2053305944 | 455 | N>D | No | Ensembl | |
| rs1448256641 | 455 | N>K | No | gnomAD | |
| rs754704235 | 456 | T>K | No |
ExAC gnomAD |
|
| rs2141252968 | 456 | T>S | No | Ensembl | |
| rs2141252932 | 458 | G>A | No | Ensembl | |
| rs2141252932 | 458 | G>D | No | Ensembl | |
| rs866808464 | 459 | S>C | No | Ensembl | |
| rs866808464 | 459 | S>F | No | Ensembl | |
| rs766302352 | 460 | V>I | No |
ExAC gnomAD |
|
| rs766302352 | 460 | V>L | No |
ExAC gnomAD |
|
| rs2141252868 | 461 | G>D | No | Ensembl | |
| rs2141252868 | 461 | G>V | No | Ensembl | |
| rs2053305399 | 462 | T>I | No | gnomAD | |
| rs2053305399 | 462 | T>R | No | gnomAD | |
| rs2053305160 | 463 | G>E | No | Ensembl | |
| rs1567309806 | 463 | G>R | No |
TOPMed gnomAD |
|
| rs2053305160 | 463 | G>V | No | Ensembl | |
|
rs2141252752 COSM1377861 |
467 | A>V | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs1054374740 | 470 | L>F | No |
TOPMed gnomAD |
|
| rs1292389647 | 472 | N>I | No | gnomAD | |
| rs2053304462 | 472 | N>K | No | TOPMed | |
| rs1292389647 | 472 | N>S | No | gnomAD | |
|
CA16620207 rs1064796426 RCV000479075 |
472 | N>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1185619320 | 473 | P>R | No | Ensembl | |
| rs983292998 | 473 | P>S | No | TOPMed | |
| COSM3509565 | 475 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs541272538 | 476 | I>V | No |
ExAC gnomAD |
|
| rs1596920904 | 477 | D>A | No | Ensembl | |
| rs2141252642 | 477 | D>H | No | Ensembl | |
| rs1338200532 | 479 | S>T | No | gnomAD | |
| rs2141252610 | 480 | S>C | No | Ensembl | |
| rs2141252574 | 481 | M>I | No | Ensembl | |
| rs2141252582 | 481 | M>V | No | Ensembl | |
| rs2141252560 | 482 | Q>* | No | Ensembl | |
|
CA158205 RCV000120611 rs587778216 |
482 | Q>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
TCGA novel rs2053303819 |
483 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2141252510 | 484 | A>S | No | Ensembl | |
| rs2141252501 | 484 | A>V | No | Ensembl | |
| rs746188366 | 485 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs746188366 | 485 | Y>F | No |
ExAC TOPMed gnomAD |
|
| rs1349475792 | 486 | A>P | No | gnomAD | |
| TCGA novel | 486 | A>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1349475792 | 486 | A>T | No | gnomAD | |
| rs2141252453 | 486 | A>V | No | Ensembl | |
| rs2141252426 | 487 | A>T | No | Ensembl | |
| rs2141252407 | 487 | A>V | No | Ensembl | |
| rs2141252385 | 488 | L>F | No | Ensembl | |
| rs2141252347 | 489 | G>A | No | Ensembl | |
| rs2141252362 | 489 | G>R | No | Ensembl | |
| rs771505672 | 491 | P>S | No |
ExAC gnomAD |
|
| rs1368073022 | 492 | Y>C | No |
TOPMed gnomAD |
|
| rs1368073022 | 492 | Y>S | No |
TOPMed gnomAD |
|
| rs2141252282 | 493 | M>I | No | Ensembl | |
| rs920337165 | 493 | M>K | No | gnomAD | |
| rs920337165 | 493 | M>R | No | gnomAD | |
| rs1366818651 | 494 | N>K | No |
TOPMed gnomAD |
|
| rs2141252240 | 495 | Q>H | No | Ensembl | |
| rs1567309689 | 496 | P>R | No | Ensembl | |
| rs2141252227 | 496 | P>S | No | Ensembl | |
| rs749382744 | 497 | Q>E | No |
ExAC gnomAD |
|
| rs2141252182 | 497 | Q>H | No | Ensembl | |
| rs777960062 | 498 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs2141252172 | 498 | T>S | No | Ensembl | |
| rs2141252120 | 501 | Q>* | No | Ensembl | |
| rs973479623 | 502 | P>S | No |
TOPMed gnomAD |
|
|
rs2141252096 COSM126635 |
503 | Q>* | lung Variant assessed as Somatic; HIGH impact. upper_aerodigestive_tract [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
|
rs748447855 VAR_072912 |
503 | Q>H | No |
UniProt ExAC TOPMed dbSNP gnomAD |
|
| rs2141252088 | 503 | Q>R | No | Ensembl | |
| rs1596920656 | 504 | V>G | No | Ensembl | |
| rs2141252059 | 504 | V>I | No | Ensembl | |
| rs2053301927 | 505 | P>S | No | TOPMed | |
| rs2141251988 | 506 | G>D | No | Ensembl | |
| rs184072951 | 507 | Q>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2141251941 | 508 | Q>* | No | Ensembl | |
| rs1466355137 | 509 | P>L | No | gnomAD | |
| rs1228441283 | 509 | P>S | No | gnomAD | |
| rs1228441283 | 509 | P>T | No | gnomAD | |
| TCGA novel | 510 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs749971148 | 510 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs2141251891 | 510 | A>V | No | Ensembl | |
| rs2141251867 | 511 | Q>* | No | Ensembl | |
| rs1406334014 | 512 | P>L | No | gnomAD | |
| rs2053301006 | 513 | Q>E | No | Ensembl | |
| rs2141251817 | 513 | Q>R | No | Ensembl | |
| rs1567309549 | 514 | T>A | No | Ensembl | |
| rs2141251805 | 514 | T>I | No | Ensembl | |
| rs761206763 | 516 | Q>R | No |
ExAC gnomAD |
|
| rs1213346701 | 517 | Q>H | No |
TOPMed gnomAD |
|
| rs2053300662 | 517 | Q>R | No | Ensembl | |
| rs2141251744 | 518 | M>I | No | Ensembl | |
| rs1324562194 | 519 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs763651145 | 520 | T>I | No |
ExAC gnomAD |
|
| rs2141251715 | 520 | T>S | No | Ensembl | |
| rs61754521 | 522 | N>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs61754521 | 522 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs61754521 | 522 | N>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs773829215 | 523 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs2053299638 | 523 | P>L | No | TOPMed | |
| rs773829215 | 523 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs1197883684 | 524 | L>V | No | gnomAD | |
| rs2141248408 | 525 | G>E | No | Ensembl | |
| rs2141251562 | 525 | G>R | No | Ensembl | |
|
RCV001769356 rs1161581600 |
526 | N>D | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1161581600 | 526 | N>H | No |
TOPMed gnomAD |
|
| rs2141248385 | 526 | N>I | No | Ensembl | |
| rs2141248372 | 526 | N>K | No | Ensembl | |
| rs2141248353 | 527 | N>I | No | Ensembl | |
| rs2141248363 | 527 | N>Y | No | Ensembl | |
| rs2141248338 | 528 | P>A | No | Ensembl | |
| rs2141248322 | 528 | P>L | No | Ensembl | |
| rs2141248322 | 528 | P>Q | No | Ensembl | |
| rs2141248338 | 528 | P>S | No | Ensembl | |
| rs2141248338 | 528 | P>T | No | Ensembl | |
| rs2141248269 | 529 | M>I | No | Ensembl | |
| rs747187975 | 529 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs2141248249 | 530 | N>I | No | Ensembl | |
| rs2141248208 | 530 | N>K | No | Ensembl | |
| rs2141248196 | 531 | I>N | No | Ensembl | |
| rs902901184 | 532 | P>A | No |
TOPMed gnomAD |
|
| rs2141248141 | 532 | P>L | No | Ensembl | |
| rs2141248141 | 532 | P>R | No | Ensembl | |
| rs902901184 | 532 | P>S | No |
TOPMed gnomAD |
|
|
VAR_072913 rs902901184 |
532 | P>T | No |
UniProt TOPMed dbSNP gnomAD |
|
| rs2141248100 | 533 | A>G | No | Ensembl | |
| rs2141248120 | 533 | A>P | No | Ensembl | |
| rs2141248120 | 533 | A>S | No | Ensembl | |
| rs2141248120 | 533 | A>T | No | Ensembl | |
|
TCGA novel rs2141248100 |
533 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs780233521 | 534 | G>* | No |
ExAC gnomAD |
|
| rs2141248058 | 534 | G>A | No | Ensembl | |
| rs2141248058 | 534 | G>E | No | Ensembl | |
| rs780233521 | 534 | G>R | No |
ExAC gnomAD |
|
| rs2141248007 | 535 | G>A | No | Ensembl | |
| rs2141248007 | 535 | G>E | No | Ensembl | |
| rs2141248029 | 535 | G>R | No | Ensembl | |
| rs2141248007 | 535 | G>V | No | Ensembl | |
| rs2141247959 | 536 | I>K | No | Ensembl | |
| rs1391739212 | 536 | I>L | No |
TOPMed gnomAD |
|
| rs2141247959 | 536 | I>R | No | Ensembl | |
| rs2141247938 | 537 | T>A | No | Ensembl | |
| rs2141247921 | 537 | T>I | No | Ensembl | |
| rs2141247921 | 537 | T>K | No | Ensembl | |
| rs2141247921 | 537 | T>R | No | Ensembl | |
| rs2141247938 | 537 | T>S | No | Ensembl | |
| rs2141247904 | 538 | T>A | No | Ensembl | |
| rs2141247891 | 538 | T>I | No | Ensembl | |
|
COSM970606 rs2141247904 |
538 | T>P | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2141247891 | 538 | T>R | No | Ensembl | |
| rs2141247904 | 538 | T>S | No | Ensembl | |
| rs2141247850 | 539 | D>A | No | Ensembl | |
| rs2141247839 | 539 | D>E | No | Ensembl | |
| rs2141247861 | 539 | D>H | No | Ensembl | |
| rs2141247861 | 539 | D>N | No | Ensembl | |
| rs2141247861 | 539 | D>Y | No | Ensembl | |
| rs398124138 | 540 | Q>E | No |
TOPMed gnomAD |
|
| rs2141247799 | 540 | Q>H | No | Ensembl | |
| rs2141247812 | 540 | Q>L | No | Ensembl | |
| rs2141247812 | 540 | Q>R | No | Ensembl | |
|
COSM255286 rs2141247776 |
541 | Q>* | central_nervous_system [Cosmic] | No |
cosmic curated Ensembl |
| rs2141247776 | 541 | Q>E | No | Ensembl | |
| rs909182894 | 541 | Q>H | No | TOPMed | |
| rs2141247766 | 541 | Q>L | No | Ensembl | |
|
RCV001597483 rs2141247434 |
542 | P>missing | No |
ClinVar dbSNP |
|
| rs764530516 | 542 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs2141247723 | 542 | P>L | No | Ensembl | |
| rs2141247723 | 542 | P>R | No | Ensembl | |
| rs764530516 | 542 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs764530516 | 542 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs2141247673 | 543 | P>L | No | Ensembl | |
| rs2141247673 | 543 | P>Q | No | Ensembl | |
| rs2141247673 | 543 | P>R | No | Ensembl | |
| rs947001316 | 543 | P>S | No |
TOPMed gnomAD |
|
| rs947001316 | 543 | P>T | No |
TOPMed gnomAD |
|
| rs2141247649 | 544 | N>I | No | Ensembl | |
| rs1242479235 | 544 | N>K | No | TOPMed | |
| rs2141247649 | 544 | N>T | No | Ensembl | |
| TCGA novel | 545 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2141247600 | 545 | L>F | No | Ensembl | |
| rs371285951 | 545 | L>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1329180790 | 546 | I>F | No |
TOPMed gnomAD |
|
| rs1329180790 | 546 | I>L | No |
TOPMed gnomAD |
|
|
VAR_072914 rs2141247569 |
546 | I>N | No |
Ensembl UniProt |
|
| rs2141247569 | 546 | I>S | No | Ensembl | |
| rs1329180790 | 546 | I>V | No |
TOPMed gnomAD |
|
| rs757074419 | 547 | S>* | No |
ExAC gnomAD |
|
| rs757074419 | 547 | S>L | No |
ExAC gnomAD |
|
| rs2141247562 | 547 | S>T | No | Ensembl | |
| rs2141247527 | 548 | E>* | No | Ensembl | |
| rs2141247504 | 548 | E>D | No | Ensembl | |
| rs2141247527 | 548 | E>K | No | Ensembl | |
| rs2141247527 | 548 | E>Q | No | Ensembl | |
| rs2141247517 | 548 | E>V | No | Ensembl | |
|
rs952669243 COSM1661274 |
549 | S>A | kidney [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs1596917200 | 549 | S>L | No | Ensembl | |
| rs952669243 | 549 | S>P | No |
TOPMed gnomAD |
|
| rs952669243 | 549 | S>T | No |
TOPMed gnomAD |
|
| rs2141247424 | 550 | A>D | No | Ensembl | |
| rs2141247424 | 550 | A>G | No | Ensembl | |
| rs753419753 | 550 | A>P | No |
ExAC gnomAD |
|
| rs753419753 | 550 | A>S | No |
ExAC gnomAD |
|
| rs753419753 | 550 | A>T | No |
ExAC gnomAD |
|
| rs61753381 | 551 | L>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2141247388 | 551 | L>H | No | Ensembl | |
| rs2141247388 | 551 | L>P | No | Ensembl | |
| rs61753381 | 551 | L>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2141247370 | 552 | P>A | No | Ensembl | |
| TCGA novel | 552 | P>H | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1398406959 | 552 | P>L | No |
TOPMed gnomAD |
|
| rs1398406959 | 552 | P>Q | No |
TOPMed gnomAD |
|
| rs1398406959 | 552 | P>R | No |
TOPMed gnomAD |
|
| rs2141247370 | 552 | P>S | No | Ensembl | |
| rs2141247329 | 553 | T>P | No | Ensembl | |
| rs2141247329 | 553 | T>S | No | Ensembl | |
| rs2141247322 | 553 | T>S | No | Ensembl | |
| rs1168098333 | 554 | S>C | No | gnomAD | |
| rs1168098333 | 554 | S>F | No | gnomAD | |
| rs1429074358 | 554 | S>T | No | gnomAD | |
| rs2141247232 | 555 | L>M | No | Ensembl | |
| TCGA novel | 555 | L>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2141247232 | 555 | L>V | No | Ensembl | |
| rs2141247171 | 556 | G>A | No | Ensembl | |
| rs2141247171 | 556 | G>E | No | Ensembl | |
| rs2141247188 | 556 | G>R | No | Ensembl | |
| rs2141247171 | 556 | G>V | No | Ensembl | |
| rs2141247188 | 556 | G>W | No | Ensembl | |
|
rs398124139 CA222676 RCV000081032 |
557 | A>missing | No |
ClinGen ClinVar dbSNP |
|
| rs2141247128 | 557 | A>G | No | Ensembl | |
| rs2053266251 | 557 | A>P | No | gnomAD | |
| rs398124139 | 557 | A>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2053266251 | 557 | A>S | No | gnomAD | |
|
RCV001767163 rs2053266251 |
557 | A>T | No |
ClinVar dbSNP gnomAD |
|
| rs371134537 | 558 | T>A | No | gnomAD | |
| rs2141247095 | 558 | T>I | No | Ensembl | |
| rs2141247095 | 558 | T>R | No | Ensembl | |
| rs141730519 | 559 | N>K | No | ESP | |
| rs2141247069 | 559 | N>S | No | Ensembl | |
| rs1227941220 | 560 | P>L | No | gnomAD | |
| rs1227941220 | 560 | P>Q | No | gnomAD | |
| rs1289234167 | 560 | P>S | No | gnomAD | |
| rs1289234167 | 560 | P>T | No | gnomAD | |
| rs1039371162 | 563 | N>I | No | gnomAD | |
|
COSM109344 rs149231437 |
563 | N>K | skin [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs1039371162 | 563 | N>S | No | gnomAD | |
| rs1437165367 | 564 | D>N | No | gnomAD | |
| rs754342482 | 565 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs1596916312 | 566 | S>A | No | TOPMed | |
| rs779416739 | 567 | N>D | No | Ensembl | |
| rs2053257954 | 567 | N>T | No |
TOPMed gnomAD |
|
| rs764580876 | 568 | S>C | No |
ExAC gnomAD |
|
| TCGA novel | 569 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs760803091 | 569 | G>V | No |
ExAC gnomAD |
|
|
CA394556693 rs1555484350 RCV000592768 |
570 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 571 | I>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2053257523 | 571 | I>T | No | Ensembl | |
| rs1157968446 | 571 | I>V | No |
TOPMed gnomAD |
|
| TCGA novel | 572 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2141245698 | 572 | G>V | No | Ensembl | |
| rs889344118 | 573 | T>A | No |
TOPMed gnomAD |
|
| rs759627093 | 573 | T>I | No |
ExAC gnomAD |
|
| rs759627093 | 573 | T>S | No |
ExAC gnomAD |
|
| rs757930880 | 574 | L>I | No | Ensembl | |
| rs374195251 | 575 | S>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs2053257123 | 575 | S>N | No | Ensembl | |
| rs1246624088 | 576 | T>I | No |
TOPMed gnomAD |
|
| rs749101054 | 577 | I>T | No |
ExAC gnomAD |
|
|
rs2141245583 RCV001596854 |
579 | T>missing | No |
ClinVar dbSNP |
|
| rs370489037 | 579 | T>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs529772220 | 579 | T>I | No | Ensembl | |
| rs2141245554 | 580 | A>V | No | Ensembl | |
| TCGA novel | 581 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs747668624 | 581 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs780812566 | 581 | A>V | No |
ExAC gnomAD |
|
| rs2141245506 | 582 | P>L | No | Ensembl | |
| rs746693211 | 582 | P>S | No |
ExAC gnomAD |
|
| TCGA novel | 583 | P>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs141279921 | 584 | S>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs2141245475 | 585 | S>C | No | Ensembl | |
| rs2053256106 | 586 | T>A | No | Ensembl | |
| rs2141245444 | 586 | T>I | No | Ensembl | |
| rs2141245444 | 586 | T>S | No | Ensembl | |
|
RCV001760982 rs2053256106 |
586 | T>S | No |
ClinVar Ensembl dbSNP |
|
| rs2053255848 | 587 | G>D | No |
TOPMed gnomAD |
|
| rs764599337 | 587 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs764599337 | 587 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs2053255848 | 587 | G>V | No |
TOPMed gnomAD |
|
| COSM5487609 | 588 | V>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2141245395 | 588 | V>I | No | Ensembl | |
| rs2141245383 | 591 | G>C | No | Ensembl | |
| rs1184726260 | 591 | G>V | No | TOPMed | |
| rs2141245353 | 592 | W>* | No | Ensembl | |
| rs2141245364 | 592 | W>* | No | Ensembl | |
| rs370195990 | 593 | H>Q | No |
ESP ExAC TOPMed gnomAD |
|
|
rs2141245348 TCGA novel |
593 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| COSM5945319 | 594 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1424319951 | 594 | E>K | No | Ensembl | |
| rs752795020 | 595 | H>D | No |
ExAC gnomAD |
|
| rs767631618 | 597 | T>N | No |
ExAC gnomAD |
|
| COSM5949992 | 598 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2141245295 | 598 | Q>H | No | Ensembl | |
| rs991418971 | 599 | D>A | No | gnomAD | |
| rs991418971 | 599 | D>G | No | gnomAD | |
| rs909245151 | 599 | D>N | No | Ensembl | |
| rs909245151 | 599 | D>Y | No | Ensembl | |
| rs2141245242 | 600 | L>P | No | Ensembl | |
|
COSM2920035 rs2141245218 RCV001767138 |
601 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar Ensembl dbSNP |
| rs1434130734 | 603 | H>Y | No | gnomAD | |
| rs2141238466 | 609 | V>A | No | Ensembl | |
| rs2141238466 | 609 | V>D | No | Ensembl | |
| rs781659306 | 609 | V>F | No |
ExAC gnomAD |
|
| rs781659306 | 609 | V>I | No |
ExAC gnomAD |
|
| rs781659306 | 609 | V>L | No |
ExAC gnomAD |
|
| rs2141238441 | 610 | Q>* | No | Ensembl | |
| rs2141238441 | 610 | Q>E | No | Ensembl | |
| rs755066972 | 610 | Q>H | No | ExAC | |
| TCGA novel | 610 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2141238398 | 611 | A>G | No | Ensembl | |
| rs2141238410 | 611 | A>P | No | Ensembl | |
| rs2141238410 | 611 | A>S | No | Ensembl | |
| rs2141238410 | 611 | A>T | No | Ensembl | |
| rs2141238398 | 611 | A>V | No | Ensembl | |
| rs2141238371 | 612 | I>F | No | Ensembl | |
| rs2141238371 | 612 | I>L | No | Ensembl | |
| rs2141238342 | 612 | I>M | No | Ensembl | |
| rs2141238356 | 612 | I>N | No | Ensembl | |
| rs2141238356 | 612 | I>T | No | Ensembl | |
| rs2141238329 | 613 | F>I | No | Ensembl | |
| rs2141238329 | 613 | F>L | No | Ensembl | |
| rs1277987099 | 613 | F>L | No | gnomAD | |
| rs2141238288 | 614 | P>A | No | Ensembl | |
| rs2141238288 | 614 | P>S | No | Ensembl | |
| rs2141238288 | 614 | P>T | No | Ensembl | |
| rs2141238269 | 615 | T>A | No | Ensembl | |
|
rs2141238251 COSM364389 |
615 | T>I | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs2141238269 | 615 | T>P | No | Ensembl | |
| rs2141238269 | 615 | T>S | No | Ensembl | |
| rs2141238230 | 616 | P>A | No | Ensembl | |
| rs2141238217 | 616 | P>L | No | Ensembl | |
|
COSM703025 rs2141238217 |
616 | P>R | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
|
COSM3509564 rs2141238230 |
616 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2141238170 | 617 | D>A | No | Ensembl | |
| rs2141238155 | 617 | D>E | No | Ensembl | |
| rs2141238181 | 617 | D>H | No | Ensembl | |
| rs2141238181 | 617 | D>N | No | Ensembl | |
| rs2141238170 | 617 | D>V | No | Ensembl | |
| rs2141238142 | 618 | P>A | No | Ensembl | |
| rs2053204447 | 618 | P>H | No | Ensembl | |
| rs2053204447 | 618 | P>L | No | Ensembl | |
| rs2053204447 | 618 | P>R | No | Ensembl | |
| rs2141238142 | 618 | P>S | No | Ensembl | |
| rs2141238062 | 619 | A>G | No | Ensembl | |
| rs1013334018 | 619 | A>P | No |
TOPMed gnomAD |
|
| rs1013334018 | 619 | A>S | No |
TOPMed gnomAD |
|
|
rs1013334018 RCV001774650 COSM1202274 |
619 | A>T | large_intestine [Cosmic] | No |
cosmic curated ClinVar TOPMed dbSNP gnomAD |
| rs2141238062 | 619 | A>V | No | Ensembl | |
| rs2141238004 | 620 | A>G | No | Ensembl | |
| rs2141238021 | 620 | A>P | No | Ensembl | |
| rs2141238021 | 620 | A>S | No | Ensembl | |
| rs2141238021 | 620 | A>T | No | Ensembl | |
| rs2141238004 | 620 | A>V | No | Ensembl | |
| rs7499604 | 621 | L>I | No | Ensembl | |
| rs2141237963 | 621 | L>Q | No | Ensembl | |
| rs7499604 | 621 | L>V | No | Ensembl | |
| rs2141237921 | 622 | K>* | No | Ensembl | |
| rs2141237914 | 622 | K>R | No | Ensembl | |
| rs2141237871 | 623 | D>A | No | Ensembl | |
| rs2141237860 | 623 | D>E | No | Ensembl | |
| rs2141237890 | 623 | D>H | No | Ensembl | |
| rs2141237890 | 623 | D>N | No | Ensembl | |
| rs2141237871 | 623 | D>V | No | Ensembl | |
| rs2141237890 | 623 | D>Y | No | Ensembl | |
|
RCV001559990 rs2141237848 |
624 | R>C | No |
ClinVar Ensembl dbSNP |
|
| rs2141237848 | 624 | R>G | No | Ensembl | |
| rs2141237839 | 624 | R>H | No | Ensembl | |
| rs2141237839 | 624 | R>P | No | Ensembl | |
|
rs1233360493 COSM3937064 |
625 | R>C | Variant assessed as Somatic; MODERATE impact. oesophagus [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs1233360493 | 625 | R>G | No | gnomAD | |
|
rs2141237781 COSM970604 |
625 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2141237781 | 625 | R>L | No | Ensembl | |
| rs2141237781 | 625 | R>P | No | Ensembl | |
| rs1233360493 | 625 | R>S | No | gnomAD | |
| rs2141237727 | 626 | M>I | No | Ensembl | |
| rs2141237746 | 626 | M>K | No | Ensembl | |
| rs2141237746 | 626 | M>T | No | Ensembl | |
| rs2141237713 | 627 | E>* | No | Ensembl | |
| rs2141237698 | 627 | E>G | No | Ensembl | |
|
rs2141237713 RCV002269561 |
627 | E>K | No |
ClinVar Ensembl dbSNP |
|
| rs2141237713 | 627 | E>Q | No | Ensembl | |
| rs2141237682 | 628 | N>D | No | Ensembl | |
| rs1596909837 | 628 | N>I | No | Ensembl | |
| rs1596909837 | 628 | N>S | No | Ensembl | |
| rs1596909837 | 628 | N>T | No | Ensembl | |
| rs2141237682 | 628 | N>Y | No | Ensembl | |
| rs766511815 | 629 | L>M | No |
ExAC gnomAD |
|
| rs2141237633 | 629 | L>P | No | Ensembl | |
| rs2141237633 | 629 | L>Q | No | Ensembl | |
| rs2141237633 | 629 | L>R | No | Ensembl | |
| rs766511815 | 629 | L>V | No |
ExAC gnomAD |
|
| rs2141237565 | 631 | A>D | No | Ensembl | |
| rs2141237565 | 631 | A>G | No | Ensembl | |
| rs2141237578 | 631 | A>P | No | Ensembl | |
| rs2141237578 | 631 | A>S | No | Ensembl | |
| rs2141237578 | 631 | A>T | No | Ensembl | |
| rs2141237565 | 631 | A>V | No | Ensembl | |
| rs892148625 | 632 | Y>* | No |
TOPMed gnomAD |
|
| rs2141237531 | 632 | Y>H | No | Ensembl | |
| rs2141237531 | 632 | Y>N | No | Ensembl | |
| rs2141237483 | 633 | A>G | No | Ensembl | |
| rs2141237495 | 633 | A>P | No | Ensembl | |
| rs2141237495 | 633 | A>S | No | Ensembl | |
| rs2141237495 | 633 | A>T | No | Ensembl | |
| rs2141237483 | 633 | A>V | No | Ensembl | |
| rs1323027664 | 634 | K>N | No | gnomAD | |
| rs2053203531 | 634 | K>R | No |
TOPMed gnomAD |
|
| rs2053203381 | 635 | K>* | No | gnomAD | |
| rs2053203381 | 635 | K>E | No | gnomAD | |
| rs2141237407 | 636 | V>E | No | Ensembl | |
| rs2141237417 | 636 | V>L | No | Ensembl | |
| rs2141237417 | 636 | V>M | No | Ensembl | |
| rs2141237384 | 637 | E>* | No | Ensembl | |
| rs2141237384 | 637 | E>K | No | Ensembl | |
| rs2141237335 | 638 | G>E | No | Ensembl | |
| rs1310135158 | 638 | G>R | No |
TOPMed gnomAD |
|
| rs2141237335 | 638 | G>V | No | Ensembl | |
| rs1313507213 | 639 | D>A | No | gnomAD | |
| rs2141237269 | 639 | D>E | No | Ensembl | |
| rs1313507213 | 639 | D>G | No | gnomAD | |
| rs1484375857 | 639 | D>H | No |
TOPMed gnomAD |
|
| rs1313507213 | 639 | D>V | No | gnomAD | |
| rs1484375857 | 639 | D>Y | No |
TOPMed gnomAD |
|
| rs2141237235 | 640 | M>I | No | Ensembl | |
| rs2141237242 | 640 | M>T | No | Ensembl | |
| rs2141237254 | 640 | M>V | No | Ensembl | |
| rs763196598 | 641 | Y>* | No |
ExAC TOPMed gnomAD |
|
| rs2141237187 | 641 | Y>C | No | Ensembl | |
| rs2141237210 | 641 | Y>D | No | Ensembl | |
| rs2141237187 | 641 | Y>F | No | Ensembl | |
| rs2141237210 | 641 | Y>H | No | Ensembl | |
| rs2141237210 | 641 | Y>N | No | Ensembl | |
| rs2141237187 | 641 | Y>S | No | Ensembl | |
| rs2141237122 | 642 | E>D | No | Ensembl | |
| rs1376477785 | 642 | E>Q | No | gnomAD | |
| rs2141237141 | 642 | E>V | No | Ensembl | |
| rs2141237104 | 643 | S>A | No | Ensembl | |
| rs2141237094 | 643 | S>C | No | Ensembl | |
| rs2141237104 | 643 | S>P | No | Ensembl | |
| rs2141237104 | 643 | S>T | No | Ensembl | |
| rs2141237047 | 644 | A>D | No | Ensembl | |
| rs2141237047 | 644 | A>G | No | Ensembl | |
| rs2141237064 | 644 | A>S | No | Ensembl | |
| rs2141237064 | 644 | A>T | No | Ensembl | |
| rs2141237047 | 644 | A>V | No | Ensembl | |
| rs750268668 | 645 | N>I | No |
ExAC TOPMed gnomAD |
|
| rs750268668 | 645 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs750268668 | 645 | N>T | No |
ExAC TOPMed gnomAD |
|
| rs2141237022 | 645 | N>Y | No | Ensembl | |
|
rs398124140 CA222677 RCV000081034 |
645 | N>missing | No |
ClinGen ClinVar dbSNP |
|
| rs765176156 | 645 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs2141236941 | 646 | S>I | No | Ensembl | |
|
rs2141236941 COSM970602 |
646 | S>N | endometrium [Cosmic] | No |
cosmic curated Ensembl |
| rs2141236929 | 646 | S>R | No | Ensembl | |
| rs2141236941 | 646 | S>T | No | Ensembl | |
| rs2053202552 | 647 | R>K | No | TOPMed | |
| rs2053202552 | 647 | R>M | No | TOPMed | |
| rs2141236885 | 647 | R>S | No | Ensembl | |
| rs2141236919 | 647 | R>W | No | Ensembl | |
| rs2141234864 | 648 | D>E | No | Ensembl | |
| rs2141234880 | 648 | D>G | No | Ensembl | |
| rs2141234890 | 648 | D>N | No | Ensembl | |
| rs2141234880 | 648 | D>V | No | Ensembl | |
| rs2141234850 | 649 | E>* | No | Ensembl | |
| rs771650171 | 649 | E>D | No |
ExAC TOPMed gnomAD |
|
|
COSM1736424 rs2141234850 |
649 | E>K | central_nervous_system [Cosmic] | No |
cosmic curated Ensembl |
| rs2141234850 | 649 | E>Q | No | Ensembl | |
| rs2141234841 | 649 | E>V | No | Ensembl | |
| rs2141234826 | 650 | Y>D | No | Ensembl | |
| rs130003 | 651 | Y>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2141234796 | 651 | Y>C | No | Ensembl | |
| rs2141234796 | 651 | Y>F | No | Ensembl | |
| rs2141234812 | 651 | Y>H | No | Ensembl | |
| rs2141234812 | 651 | Y>N | No | Ensembl | |
| rs587783468 | 652 | H>L | No | Ensembl | |
| rs2053190901 | 652 | H>Q | No | TOPMed | |
| rs587783468 | 652 | H>R | No | Ensembl | |
| rs2141234727 | 653 | L>F | No | Ensembl | |
| rs2141234742 | 653 | L>I | No | Ensembl | |
| rs2141234700 | 654 | L>* | No | Ensembl | |
| rs774044745 | 654 | L>I | No |
ExAC gnomAD |
|
| rs2141234652 | 655 | A>E | No | Ensembl | |
| rs2141234652 | 655 | A>G | No | Ensembl | |
| rs2141234669 | 655 | A>P | No | Ensembl | |
| rs2141234669 | 655 | A>S | No | Ensembl | |
| rs2141234669 | 655 | A>T | No | Ensembl | |
| rs2141234652 | 655 | A>V | No | Ensembl | |
| rs2141234599 | 656 | E>D | No | Ensembl | |
| rs777012351 | 656 | E>K | No |
ExAC gnomAD |
|
| rs777012351 | 656 | E>Q | No |
ExAC gnomAD |
|
| rs1131691431 | 657 | K>* | No | Ensembl | |
|
CA394554861 rs1131691431 RCV000494620 |
657 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2141234571 | 657 | K>I | No | Ensembl | |
|
TCGA novel rs2141234562 |
657 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs1356000508 | 658 | I>F | No | Ensembl | |
| rs2141234495 | 658 | I>M | No | Ensembl | |
| rs2141234519 | 658 | I>N | No | Ensembl | |
| rs2141234519 | 658 | I>S | No | Ensembl | |
| rs1356000508 | 658 | I>V | No | Ensembl | |
| rs2141234463 | 659 | Y>F | No | Ensembl | |
| rs2141234478 | 659 | Y>N | No | Ensembl | |
| rs2141234433 | 660 | K>* | No | Ensembl | |
| rs2141234424 | 660 | K>M | No | Ensembl | |
| rs2141234412 | 660 | K>N | No | Ensembl | |
| rs2141234370 | 661 | I>K | No | Ensembl | |
| rs2141234360 | 661 | I>M | No | Ensembl | |
| rs2141234370 | 661 | I>R | No | Ensembl | |
| rs2141234370 | 661 | I>T | No | Ensembl | |
| rs755417140 | 661 | I>V | No | TOPMed | |
| rs2141234339 | 662 | Q>* | No | Ensembl | |
| rs2141234339 | 662 | Q>E | No | Ensembl | |
| rs2141234339 | 662 | Q>K | No | Ensembl | |
| rs2141234322 | 663 | K>I | No | Ensembl | |
| rs2141234303 | 663 | K>N | No | Ensembl | |
| COSM3420982 | 664 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2141234279 | 664 | E>D | No | Ensembl | |
| rs2053190203 | 664 | E>K | No | Ensembl | |
| rs2141234293 | 664 | E>V | No | Ensembl | |
| rs971612814 | 665 | L>I | No | TOPMed | |
| rs2141234254 | 665 | L>Q | No | Ensembl | |
| rs971612814 | 665 | L>V | No | TOPMed | |
| rs2141234220 | 666 | E>* | No | Ensembl | |
| rs2141234189 | 666 | E>D | No | Ensembl | |
| rs2141234220 | 666 | E>K | No | Ensembl | |
|
rs2141234220 COSM1301961 |
666 | E>Q | urinary_tract [Cosmic] | No |
cosmic curated Ensembl |
| rs2141234206 | 666 | E>V | No | Ensembl | |
| TCGA novel | 667 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2141234151 | 667 | E>D | No | Ensembl | |
| rs2053189982 | 667 | E>G | No | gnomAD | |
|
rs2141234173 TCGA novel |
667 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2141234173 | 667 | E>Q | No | Ensembl | |
| rs2141234140 | 668 | K>* | No | Ensembl | |
| rs2141234124 | 668 | K>I | No | Ensembl | |
| rs2141234098 | 668 | K>N | No | Ensembl | |
| rs2141234124 | 668 | K>T | No | Ensembl | |
| rs2141234057 | 669 | R>L | No | Ensembl | |
| rs2141234057 | 669 | R>P | No | Ensembl | |
|
TCGA novel rs2141234057 |
669 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2053189912 | 669 | R>W | No | Ensembl | |
| rs2141234014 | 670 | R>G | No | Ensembl | |
| rs2141233999 | 670 | R>K | No | Ensembl | |
| rs2141233999 | 670 | R>M | No | Ensembl | |
| rs2141233976 | 670 | R>S | No | Ensembl | |
| rs2141233999 | 670 | R>T | No | Ensembl | |
| rs2141233951 | 671 | S>A | No | Ensembl | |
|
rs2053189709 COSM4674654 |
671 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
| rs2141233951 | 671 | S>P | No | Ensembl | |
| rs2141233951 | 671 | S>T | No | Ensembl | |
| rs2053189709 | 671 | S>W | No |
TOPMed gnomAD |
|
|
COSM175791 rs2141233908 |
672 | R>C | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs2141233908 | 672 | R>G | No | Ensembl | |
|
rs2141233884 COSM970600 |
672 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2141233884 | 672 | R>L | No | Ensembl | |
| rs2141233884 | 672 | R>P | No | Ensembl | |
| rs2141233908 | 672 | R>S | No | Ensembl | |
|
rs2141233842 COSM3370431 |
673 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2141233848 | 673 | L>I | No | Ensembl | |
| rs2141233848 | 673 | L>V | No | Ensembl | |
| rs2141233823 | 674 | H>D | No | Ensembl | |
| rs2141233817 | 674 | H>L | No | Ensembl | |
| rs2141233823 | 674 | H>N | No | Ensembl | |
| rs1484511446 | 674 | H>Q | No |
TOPMed gnomAD |
|
| rs2141233823 | 674 | H>Y | No | Ensembl | |
| rs2141233777 | 675 | K>* | No | Ensembl | |
| rs2141233777 | 675 | K>E | No | Ensembl | |
| rs1386662008 | 675 | K>I | No | gnomAD | |
| rs2141233743 | 675 | K>N | No | Ensembl | |
| rs1386662008 | 675 | K>R | No | gnomAD | |
| rs886042429 | 676 | Q>H | No |
TOPMed gnomAD |
|
| rs2141233718 | 676 | Q>L | No | Ensembl | |
| rs2141233664 | 677 | G>A | No | Ensembl | |
| rs2141233678 | 677 | G>C | No | Ensembl | |
| rs2141233664 | 677 | G>D | No | Ensembl | |
| rs2141233678 | 677 | G>R | No | Ensembl | |
| rs2141233678 | 677 | G>S | No | Ensembl | |
| rs2141233664 | 677 | G>V | No | Ensembl | |
| rs780394379 | 678 | I>F | No |
ExAC gnomAD |
|
| rs780394379 | 678 | I>L | No |
ExAC gnomAD |
|
| rs1458002393 | 678 | I>N | No |
TOPMed gnomAD |
|
| rs1458002393 | 678 | I>T | No |
TOPMed gnomAD |
|
| rs1451697093 | 679 | L>* | No | TOPMed | |
| rs2053188819 | 679 | L>F | No | Ensembl | |
|
rs1451697093 RCV001420627 |
679 | L>S | No |
ClinVar TOPMed dbSNP |
|
| rs2141233514 | 680 | G>A | No | Ensembl | |
| rs2141233514 | 680 | G>E | No | Ensembl | |
| rs1388175135 | 680 | G>R | No |
TOPMed gnomAD |
|
| rs2141233514 | 680 | G>V | No | Ensembl | |
| rs1388175135 | 680 | G>W | No |
TOPMed gnomAD |
|
| TCGA novel | 681 | N>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs745934218 | 681 | N>I | No | ExAC | |
| rs555628489 | 681 | N>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs745934218 | 681 | N>S | No | ExAC | |
| rs745934218 | 681 | N>T | No | ExAC | |
| rs2141233448 | 682 | Q>* | No | Ensembl | |
| rs2141233448 | 682 | Q>E | No | Ensembl | |
| rs2141233431 | 682 | Q>H | No | Ensembl | |
| rs2141233440 | 682 | Q>L | No | Ensembl | |
| rs2141233417 | 683 | P>A | No | Ensembl | |
| rs2141233404 | 683 | P>L | No | Ensembl | |
| rs2141233404 | 683 | P>Q | No | Ensembl | |
| rs2141233404 | 683 | P>R | No | Ensembl | |
| rs2141233417 | 683 | P>S | No | Ensembl | |
| rs2141233417 | 683 | P>T | No | Ensembl | |
| rs2141233356 | 684 | A>G | No | Ensembl | |
| rs587778217 | 684 | A>P | No | gnomAD | |
|
RCV001769473 rs587778217 |
684 | A>S | No |
ClinVar dbSNP gnomAD |
|
|
RCV000120612 rs587778217 CA158207 |
684 | A>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs2141233356 | 684 | A>V | No | Ensembl | |
| rs1377921252 | 685 | L>* | No | gnomAD | |
| rs2053188143 | 685 | L>F | No | Ensembl | |
| rs2141233333 | 685 | L>I | No | Ensembl | |
| rs1377921252 | 685 | L>S | No | gnomAD | |
| rs763996233 | 686 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs2141233264 | 686 | P>L | No | Ensembl | |
| rs2141233264 | 686 | P>R | No | Ensembl | |
| rs763996233 | 686 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs763996233 | 686 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs2141233237 | 687 | A>P | No | Ensembl | |
| rs2141233237 | 687 | A>S | No | Ensembl | |
| rs2141233237 | 687 | A>T | No | Ensembl | |
| rs755831394 | 687 | A>V | No |
ExAC gnomAD |
|
| rs369233303 | 688 | P>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs375125948 | 688 | P>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs375125948 | 688 | P>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs369233303 | 688 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs369233303 | 688 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs2141233126 | 689 | G>A | No | Ensembl | |
| rs2141233140 | 689 | G>R | No | Ensembl | |
| rs531539047 | 690 | A>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs531539047 | 690 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs1555483689 CA394554404 RCV000578585 |
691 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
| rs1555483689 | 691 | Q>E | No | Ensembl | |
| rs2141233037 | 691 | Q>H | No | Ensembl | |
| rs2141233054 | 691 | Q>L | No | Ensembl | |
| rs2141233054 | 691 | Q>R | No | Ensembl | |
| rs1289765861 | 692 | P>A | No | gnomAD | |
| rs1256902034 | 692 | P>H | No |
TOPMed gnomAD |
|
| rs1256902034 | 692 | P>L | No |
TOPMed gnomAD |
|
|
rs1256902034 RCV001763819 |
692 | P>R | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1289765861 | 692 | P>S | No | gnomAD | |
| rs776122323 | 693 | P>A | No |
ExAC gnomAD |
|
| rs776122323 | 693 | P>S | No |
ExAC gnomAD |
|
| rs776122323 | 693 | P>T | No |
ExAC gnomAD |
|
| rs2141232936 | 694 | V>A | No | Ensembl | |
| rs2141232936 | 694 | V>E | No | Ensembl | |
| rs2141232936 | 694 | V>G | No | Ensembl | |
|
rs2053186827 COSM1301960 |
694 | V>L | urinary_tract Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated Ensembl NCI-TCGA Cosmic |
| rs2141232902 | 695 | I>F | No | Ensembl | |
| rs2141232902 | 695 | I>L | No | Ensembl | |
| rs772653091 | 695 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs2141232894 | 695 | I>N | No | Ensembl | |
| rs2053186679 | 696 | P>A | No | TOPMed | |
| rs2141232831 | 696 | P>L | No | Ensembl | |
| rs2141232831 | 696 | P>R | No | Ensembl | |
| rs2053186679 | 696 | P>S | No | TOPMed | |
| rs2053186679 | 696 | P>T | No | TOPMed | |
| rs2141232810 | 697 | Q>* | No | Ensembl | |
|
TCGA novel rs2141232810 |
697 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2053186548 | 697 | Q>H | No | TOPMed | |
| rs2141232783 | 697 | Q>L | No | Ensembl | |
| rs2141232783 | 697 | Q>P | No | Ensembl | |
| rs2141232783 | 697 | Q>R | No | Ensembl | |
| rs181322556 | 698 | A>G | No |
1000Genomes gnomAD |
|
| rs1435888013 | 698 | A>P | No | gnomAD | |
| rs1435888013 | 698 | A>S | No | gnomAD | |
| rs1435888013 | 698 | A>T | No | gnomAD | |
| rs181322556 | 698 | A>V | No |
1000Genomes gnomAD |
|
| rs2141232708 | 699 | Q>* | No | Ensembl | |
| rs2141232708 | 699 | Q>E | No | Ensembl | |
| rs887083653 | 699 | Q>H | No | TOPMed | |
| rs2141232698 | 699 | Q>L | No | Ensembl | |
| rs2053186121 | 700 | P>A | No | Ensembl | |
| rs779099706 | 700 | P>H | No |
ExAC gnomAD |
|
| rs779099706 | 700 | P>L | No |
ExAC gnomAD |
|
| rs779099706 | 700 | P>R | No |
ExAC gnomAD |
|
| rs2053186121 | 700 | P>S | No | Ensembl | |
| rs2141232596 | 701 | V>E | No | Ensembl | |
| rs2141232596 | 701 | V>G | No | Ensembl | |
| rs201490361 | 701 | V>L | No | Ensembl | |
| rs201490361 | 701 | V>M | No | Ensembl | |
| rs2141232564 | 702 | R>* | No | Ensembl | |
| rs2141232564 | 702 | R>G | No | Ensembl | |
| rs2141232550 | 702 | R>K | No | Ensembl | |
| rs2141232541 | 702 | R>S | No | Ensembl | |
| rs2141232550 | 702 | R>T | No | Ensembl | |
| rs1416343278 | 703 | P>A | No | gnomAD | |
| rs1354653016 | 703 | P>H | No |
TOPMed gnomAD |
|
| rs1354653016 | 703 | P>R | No |
TOPMed gnomAD |
|
| rs1416343278 | 703 | P>S | No | gnomAD | |
| rs1416343278 | 703 | P>T | No | gnomAD | |
| rs757578450 | 704 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs2141232451 | 704 | P>L | No | Ensembl | |
| rs2141232451 | 704 | P>Q | No | Ensembl | |
| rs757578450 | 704 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs757578450 | 704 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs2141232419 | 705 | N>D | No | Ensembl | |
| rs1379062356 | 705 | N>K | No | TOPMed | |
|
COSM1478869 rs1474330488 |
705 | N>S | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs2141232419 | 705 | N>Y | No | Ensembl | |
| rs1254370568 | 707 | P>S | No | gnomAD | |
| rs1206531955 | 708 | L>M | No | gnomAD | |
|
COSM107062 rs147740753 |
709 | S>F | skin [Cosmic] | No |
cosmic curated Ensembl |
| rs748006247 | 709 | S>P | No |
ExAC TOPMed gnomAD |
|
| rs1292924395 | 711 | P>S | No |
TOPMed gnomAD |
|
| rs1292924395 | 711 | P>T | No |
TOPMed gnomAD |
|
| rs2053175281 | 712 | V>L | No | Ensembl | |
| rs2053175281 | 712 | V>M | No | Ensembl | |
| rs2053175196 | 713 | N>I | No |
TOPMed gnomAD |
|
|
COSM970598 rs751540839 |
714 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1596906269 | 715 | M>I | No | Ensembl | |
| TCGA novel | 716 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1188619783 | 716 | Q>K | No | gnomAD | |
| rs2053174917 | 717 | V>I | No | gnomAD | |
| rs2141220179 | 720 | G>A | No | Ensembl | |
| rs2141220148 | 721 | M>I | No | 1000Genomes | |
| rs773744675 | 721 | M>L | No |
ExAC gnomAD |
|
| rs2053094594 | 722 | N>S | No | TOPMed | |
| rs776898396 | 727 | M>I | No |
ExAC gnomAD |
|
| rs1466464050 | 727 | M>V | No | gnomAD | |
| rs2053094009 | 729 | L>F | No | Ensembl | |
| rs2053093787 | 732 | V>A | No | gnomAD | |
| rs775229806 | 732 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs1485559822 | 733 | Q>H | No | TOPMed | |
| rs1567302791 | 733 | Q>R | No | Ensembl | |
| rs1219793343 | 735 | P>S | No | gnomAD | |
| rs1300711905 | 736 | Q>H | No | gnomAD | |
| rs745845191 | 737 | A>G | No |
ExAC gnomAD |
|
| rs1436634025 | 737 | A>T | No | gnomAD | |
| rs745845191 | 737 | A>V | No |
ExAC gnomAD |
|
| rs2053093118 | 738 | P>S | No |
TOPMed gnomAD |
|
| TCGA novel | 739 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1287930773 | 739 | M>V | No | gnomAD | |
| rs1206236240 | 740 | G>E | No |
TOPMed gnomAD |
|
| rs2053092915 | 740 | G>R | No | Ensembl | |
| rs2141219820 | 741 | P>L | No | Ensembl | |
| rs2141219832 | 741 | P>S | No | Ensembl | |
|
rs778882385 COSM1202271 |
742 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs748747684 | 742 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs2141219769 | 743 | A>V | No | Ensembl | |
| rs2141219734 | 745 | S>P | No | Ensembl | |
| rs1178646853 | 746 | P>A | No | gnomAD | |
|
RCV000996196 rs1178646853 COSM3509561 |
746 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar dbSNP gnomAD |
| rs1172253305 | 747 | M>I | No | gnomAD | |
| COSM4674653 | 747 | M>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1262466893 | 749 | H>Q | No | gnomAD | |
| rs1451414173 | 749 | H>Y | No | gnomAD | |
| rs2053091924 | 750 | S>C | No | TOPMed | |
| rs2053091924 | 750 | S>F | No | TOPMed | |
| rs1435710492 | 750 | S>P | No |
TOPMed gnomAD |
|
| rs2141219625 | 751 | V>I | No | Ensembl | |
| rs2141219625 | 751 | V>L | No | Ensembl | |
| rs1389560620 | 753 | M>I | No |
TOPMed gnomAD |
|
| rs772162418 | 754 | N>Y | No | Ensembl | |
| rs376103794 | 755 | S>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs750959742 | 756 | M>R | No |
ExAC TOPMed gnomAD |
|
| rs758756046 | 756 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs2141219540 | 757 | G>D | No | Ensembl | |
| rs765762828 | 757 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs2053091325 | 758 | S>L | No | Ensembl | |
| rs2141219526 | 758 | S>P | No | Ensembl | |
| rs1390790733 | 760 | P>A | No |
TOPMed gnomAD |
|
| COSM4060715 | 760 | P>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM178803 rs1390790733 |
760 | P>S | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA TOPMed gnomAD |
| rs2053091093 | 761 | G>V | No | TOPMed | |
| rs2141217113 | 762 | M>I | No | Ensembl | |
| rs769493890 | 762 | M>K | No | ExAC | |
| rs2141217141 | 762 | M>L | No | Ensembl | |
| rs769493890 | 762 | M>R | No | ExAC | |
| rs769493890 | 762 | M>T | No | ExAC | |
| rs768288810 | 763 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs768288810 | 763 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs768288810 | 763 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs2141217081 | 763 | A>V | No | Ensembl | |
| rs779292172 | 764 | I>M | No | ExAC | |
| rs2141217056 | 764 | I>N | No | Ensembl | |
| rs2141217031 | 765 | S>C | No | Ensembl | |
| rs2141217031 | 765 | S>F | No | Ensembl | |
| rs2141217040 | 765 | S>P | No | Ensembl | |
| COSM970596 | 765 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2141217014 | 766 | P>A | No | Ensembl | |
| rs2141216998 | 766 | P>L | No | Ensembl | |
| rs2141216998 | 766 | P>R | No | Ensembl | |
| rs2141217014 | 766 | P>S | No | Ensembl | |
| rs757600398 | 767 | S>A | No |
ExAC TOPMed gnomAD |
|
| rs2141216979 | 767 | S>F | No | Ensembl | |
| rs757600398 | 767 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs1057520652 | 768 | R>G | No | gnomAD | |
| rs754386072 | 768 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs754386072 | 768 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs778251901 | 769 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs2141216902 | 769 | M>K | No | Ensembl | |
| rs2141216922 | 769 | M>L | No | Ensembl | |
| rs2141216902 | 769 | M>R | No | Ensembl | |
| rs2141216878 | 770 | P>A | No | Ensembl | |
| rs2053075359 | 770 | P>R | No | Ensembl | |
| rs2141216841 | 771 | Q>* | No | Ensembl | |
| rs2141216841 | 771 | Q>E | No | Ensembl | |
| rs2141216814 | 771 | Q>H | No | Ensembl | |
| rs147805823 | 771 | Q>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1555482779 | 772 | P>A | No | TOPMed | |
| rs2141216782 | 772 | P>L | No | Ensembl | |
| rs1555482779 | 772 | P>S | No | TOPMed | |
| rs2141216753 | 773 | P>A | No | Ensembl | |
| rs1273214954 | 773 | P>L | No |
TOPMed gnomAD |
|
| rs2141216753 | 773 | P>S | No | Ensembl | |
| rs1214602415 | 774 | N>I | No |
TOPMed gnomAD |
|
| rs2053074728 | 774 | N>K | No | TOPMed | |
| rs1214602415 | 774 | N>S | No |
TOPMed gnomAD |
|
| rs759750843 | 774 | N>Y | No |
ExAC TOPMed gnomAD |
|
| rs1291894863 | 775 | M>I | No | gnomAD | |
| rs1438720122 | 775 | M>K | No | gnomAD | |
| rs990281677 | 775 | M>L | No |
TOPMed gnomAD |
|
| rs1438720122 | 775 | M>T | No | gnomAD | |
| rs2141216567 | 776 | M>I | No | Ensembl | |
| rs2141216588 | 776 | M>K | No | Ensembl | |
| rs2141216610 | 776 | M>L | No | Ensembl | |
| rs2141216588 | 776 | M>R | No | Ensembl | |
| rs2141216588 | 776 | M>T | No | Ensembl | |
| rs2141216610 | 776 | M>V | No | Ensembl | |
| rs2141216523 | 777 | G>A | No | Ensembl | |
| rs2141216554 | 777 | G>C | No | Ensembl | |
| rs2141216523 | 777 | G>D | No | Ensembl | |
| rs2141216554 | 777 | G>R | No | Ensembl | |
| rs2141216554 | 777 | G>S | No | Ensembl | |
| rs2141216523 | 777 | G>V | No | Ensembl | |
| rs1596895483 | 778 | A>P | No | Ensembl | |
| rs1596895483 | 778 | A>S | No | Ensembl | |
| rs1596895483 | 778 | A>T | No | Ensembl | |
| rs2053074130 | 778 | A>V | No | Ensembl | |
| rs1567302047 | 779 | H>D | No | Ensembl | |
| rs2141216450 | 779 | H>L | No | Ensembl | |
| rs2141216432 | 779 | H>Q | No | Ensembl | |
| rs1567302047 | 779 | H>Y | No | Ensembl | |
| rs956175120 | 780 | T>I | No | TOPMed | |
| rs956175120 | 780 | T>N | No | TOPMed | |
| rs956175120 | 780 | T>S | No | TOPMed | |
| rs2141216418 | 780 | T>S | No | Ensembl | |
| rs2141216374 | 781 | N>H | No | Ensembl | |
| rs2053073820 | 781 | N>I | No | TOPMed | |
| rs2053073820 | 781 | N>S | No | TOPMed | |
| rs2053073820 | 781 | N>T | No | TOPMed | |
| rs2141216374 | 781 | N>Y | No | Ensembl | |
| rs1159173242 | 782 | N>D | No |
TOPMed gnomAD |
|
| rs2141216323 | 782 | N>I | No | Ensembl | |
| rs2141216305 | 782 | N>K | No | Ensembl | |
| rs2141216323 | 782 | N>S | No | Ensembl | |
| rs2141216323 | 782 | N>T | No | Ensembl | |
| rs540177346 | 783 | M>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs144200709 | 783 | M>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs140340520 | 783 | M>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs140340520 | 783 | M>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs144200709 | 783 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs2141216190 | 784 | M>I | No | Ensembl | |
| rs2141216207 | 784 | M>K | No | Ensembl | |
| rs2141216223 | 784 | M>L | No | Ensembl | |
| rs2141216207 | 784 | M>R | No | Ensembl | |
| rs2141216223 | 784 | M>V | No | Ensembl | |
| rs2141216143 | 785 | A>G | No | Ensembl | |
| rs2141216162 | 785 | A>P | No | Ensembl | |
| rs2141216162 | 785 | A>S | No | Ensembl | |
|
rs2141216162 TCGA novel |
785 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2141216143 | 785 | A>V | No | Ensembl | |
| rs2141216100 | 786 | Q>* | No | Ensembl | |
| rs2141216100 | 786 | Q>E | No | Ensembl | |
| rs2141216081 | 786 | Q>H | No | Ensembl | |
|
rs2141216100 COSM140751 |
786 | Q>K | skin [Cosmic] | No |
cosmic curated Ensembl |
| rs1369853866 | 787 | A>P | No |
TOPMed gnomAD |
|
| rs1369853866 | 787 | A>T | No |
TOPMed gnomAD |
|
| rs117910358 | 787 | A>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs117910358 | 787 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs2141216001 | 788 | P>H | No | Ensembl | |
| rs2141216001 | 788 | P>L | No | Ensembl | |
| rs2141216001 | 788 | P>R | No | Ensembl | |
| rs2141216015 | 788 | P>S | No | Ensembl | |
| rs2141215934 | 789 | A>G | No | Ensembl | |
| rs746728741 | 789 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs746728741 | 789 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs2141215934 | 789 | A>V | No | Ensembl | |
| rs2053072467 | 790 | Q>H | No |
TOPMed gnomAD |
|
| rs2141215887 | 790 | Q>L | No | Ensembl | |
| rs2141215887 | 790 | Q>R | No | Ensembl | |
| rs2141215862 | 791 | S>C | No | Ensembl | |
| rs2141215862 | 791 | S>G | No | Ensembl | |
| rs779654539 | 791 | S>I | No |
ExAC TOPMed gnomAD |
|
| rs779654539 | 791 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs2141215819 | 791 | S>R | No | Ensembl | |
| rs779654539 | 791 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs2141215803 | 792 | Q>* | No | Ensembl | |
| rs2141215803 | 792 | Q>E | No | Ensembl | |
| rs1043170201 | 792 | Q>H | No | TOPMed | |
| rs2141215803 | 792 | Q>K | No | Ensembl | |
| rs2141215789 | 792 | Q>R | No | Ensembl | |
| rs2053072238 | 793 | F>C | No | TOPMed | |
| rs2141215743 | 793 | F>I | No | Ensembl | |
| rs2141215743 | 793 | F>L | No | Ensembl | |
| rs2053072238 | 793 | F>S | No | TOPMed | |
| rs2141215743 | 793 | F>V | No | Ensembl | |
| rs2053072238 | 793 | F>Y | No | TOPMed | |
| rs2141215700 | 794 | L>V | No | Ensembl | |
| rs1362967620 | 795 | P>A | No |
TOPMed gnomAD |
|
| rs868648317 | 795 | P>L | No |
TOPMed gnomAD |
|
| rs868648317 | 795 | P>Q | No |
TOPMed gnomAD |
|
| rs868648317 | 795 | P>R | No |
TOPMed gnomAD |
|
| rs1362967620 | 795 | P>S | No |
TOPMed gnomAD |
|
| rs1362967620 | 795 | P>T | No |
TOPMed gnomAD |
|
| rs2141215590 | 796 | Q>* | No | Ensembl | |
| rs2141215590 | 796 | Q>E | No | Ensembl | |
| rs1280581146 | 796 | Q>H | No | TOPMed | |
| rs2141215590 | 796 | Q>K | No | Ensembl | |
| rs771355012 | 796 | Q>L | No |
ExAC gnomAD |
|
| rs771355012 | 796 | Q>R | No |
ExAC gnomAD |
|
| rs2141215541 | 797 | N>D | No | Ensembl | |
| rs2141215541 | 797 | N>H | No | Ensembl | |
| rs2141215531 | 797 | N>I | No | Ensembl | |
| TCGA novel | 797 | N>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2053071786 | 797 | N>K | No | TOPMed | |
| rs2141215531 | 797 | N>T | No | Ensembl | |
| rs2141215541 | 797 | N>Y | No | Ensembl | |
| rs2141215497 | 798 | Q>* | No | Ensembl | |
| rs2141215497 | 798 | Q>E | No | Ensembl | |
| rs2141215459 | 798 | Q>H | No | Ensembl | |
| rs2141215497 | 798 | Q>K | No | Ensembl | |
| rs749642688 | 798 | Q>R | No |
ExAC gnomAD |
|
| rs2141215441 | 799 | F>I | No | Ensembl | |
| rs2141215441 | 799 | F>L | No | Ensembl | |
| rs2141215402 | 799 | F>L | No | Ensembl | |
| rs2141215423 | 799 | F>S | No | Ensembl | |
| rs2141215441 | 799 | F>V | No | Ensembl | |
| rs2141215423 | 799 | F>Y | No | Ensembl | |
|
CA240081 rs371771785 RCV000174535 |
800 | P>L | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs371771785 | 800 | P>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs371771785 | 800 | P>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2053071636 | 800 | P>S | No | TOPMed | |
| rs2141215304 | 801 | S>* | No | Ensembl | |
| rs2141215304 | 801 | S>L | No | Ensembl | |
|
TCGA novel rs2141215323 |
801 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2141215323 | 801 | S>T | No | Ensembl | |
| rs2141215243 | 802 | S>C | No | Ensembl | |
| rs2141215243 | 802 | S>F | No | Ensembl | |
| rs2141215269 | 802 | S>P | No | Ensembl | |
| rs2141215269 | 802 | S>T | No | Ensembl | |
| rs2141215243 | 802 | S>Y | No | Ensembl | |
| rs1430980955 | 803 | S>G | No | gnomAD | |
| rs2141215169 | 803 | S>I | No | Ensembl | |
| rs2141215169 | 803 | S>N | No | Ensembl | |
| rs139207930 | 803 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2141215169 | 803 | S>T | No | Ensembl | |
| rs2141215108 | 804 | G>A | No | Ensembl | |
| rs2141215108 | 804 | G>E | No | Ensembl | |
| rs2141215108 | 804 | G>V | No | Ensembl | |
| rs754981072 | 804 | G>W | No |
ExAC TOPMed gnomAD |
|
| rs1260458096 | 805 | A>E | No |
TOPMed gnomAD |
|
| rs1260458096 | 805 | A>G | No |
TOPMed gnomAD |
|
| rs370128808 | 805 | A>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs1260458096 | 805 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2141214970 | 806 | M>I | No | Ensembl | |
| rs2141215008 | 806 | M>L | No | Ensembl | |
| rs2141215008 | 806 | M>V | No | Ensembl | |
| rs2141214955 | 807 | S>C | No | Ensembl | |
| rs2141214955 | 807 | S>G | No | Ensembl | |
| rs750178517 | 807 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs2053070577 | 807 | S>R | No | TOPMed | |
| rs2141214899 | 808 | V>L | No | Ensembl | |
| rs2141214899 | 808 | V>M | No | Ensembl | |
| rs2141214853 | 809 | G>A | No | Ensembl | |
| rs2141214853 | 809 | G>D | No | Ensembl | |
| rs967824913 | 810 | M>K | No | Ensembl | |
| rs2141214833 | 810 | M>L | No | Ensembl | |
| rs967824913 | 810 | M>R | No | Ensembl | |
| rs967824913 | 810 | M>T | No | Ensembl | |
| rs2141214833 | 810 | M>V | No | Ensembl | |
| rs2141214770 | 811 | G>A | No | Ensembl | |
| rs2141214770 | 811 | G>E | No | Ensembl | |
| rs2141214800 | 811 | G>R | No | Ensembl | |
| rs2141214770 | 811 | G>V | No | Ensembl | |
| rs2141214800 | 811 | G>W | No | Ensembl | |
| rs2141214709 | 812 | Q>H | No | Ensembl | |
| rs2141214687 | 813 | P>A | No | Ensembl | |
| rs150767375 | 813 | P>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs150767375 | 813 | P>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2141214687 | 813 | P>S | No | Ensembl | |
| rs2141214687 | 813 | P>T | No | Ensembl | |
| rs2141214597 | 814 | P>A | No | Ensembl | |
|
rs1322839266 COSM703028 |
814 | P>L | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated TOPMed gnomAD |
| rs1322839266 | 814 | P>Q | No |
TOPMed gnomAD |
|
| rs1322839266 | 814 | P>R | No |
TOPMed gnomAD |
|
|
TCGA novel rs2141214597 |
814 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2141214597 | 814 | P>T | No | Ensembl | |
| rs1006132887 | 815 | A>D | No | TOPMed | |
| rs1006132887 | 815 | A>G | No | TOPMed | |
| rs1382941447 | 815 | A>P | No | gnomAD | |
| rs1382941447 | 815 | A>S | No | gnomAD | |
| rs1382941447 | 815 | A>T | No | gnomAD | |
| rs1006132887 | 815 | A>V | No | TOPMed | |
| rs2141214490 | 816 | Q>* | No | Ensembl | |
| rs2141214490 | 816 | Q>E | No | Ensembl | |
| rs760103333 | 816 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs2141214490 | 816 | Q>K | No | Ensembl | |
| TCGA novel | 816 | Q>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1384035097 | 816 | Q>P | No | gnomAD | |
| rs2141214440 | 817 | T>A | No | Ensembl | |
| rs1467582916 | 817 | T>I | No |
TOPMed gnomAD |
|
| rs2141214440 | 817 | T>P | No | Ensembl | |
| rs1467582916 | 817 | T>R | No |
TOPMed gnomAD |
|
| rs2141214440 | 817 | T>S | No | Ensembl | |
| rs1555482654 | 818 | G>A | No | Ensembl | |
| rs2141214393 | 818 | G>C | No | Ensembl | |
| rs1555482654 | 818 | G>D | No | Ensembl | |
| rs2141214393 | 818 | G>R | No | Ensembl | |
| rs2141214393 | 818 | G>S | No | Ensembl | |
| rs1555482654 | 818 | G>V | No | Ensembl | |
| rs749681287 | 819 | V>A | No |
ExAC gnomAD |
|
| rs749681287 | 819 | V>E | No |
ExAC gnomAD |
|
| rs749681287 | 819 | V>G | No |
ExAC gnomAD |
|
|
COSM1645445 rs376314132 |
819 | V>M | large_intestine [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs2141214263 | 820 | S>* | No | Ensembl | |
| rs2141214263 | 820 | S>L | No | Ensembl | |
| rs2141214282 | 820 | S>T | No | Ensembl | |
| rs2141214229 | 821 | Q>* | No | Ensembl | |
| rs2141214229 | 821 | Q>E | No | Ensembl | |
| rs2141214190 | 821 | Q>H | No | Ensembl | |
| rs2141214229 | 821 | Q>K | No | Ensembl | |
| rs2141214212 | 821 | Q>L | No | Ensembl | |
| rs2141214212 | 821 | Q>P | No | Ensembl | |
| rs2141214212 | 821 | Q>R | No | Ensembl | |
| rs2141204911 | 822 | G>* | No | Ensembl | |
| rs2141204894 | 822 | G>A | No | Ensembl | |
| rs2141204894 | 822 | G>E | No | Ensembl | |
| rs2141204911 | 822 | G>R | No | Ensembl | |
| rs2141204894 | 822 | G>V | No | Ensembl | |
| rs2141204879 | 823 | Q>* | No | Ensembl | |
| rs2141204879 | 823 | Q>E | No | Ensembl | |
| rs2141204854 | 823 | Q>H | No | Ensembl | |
| rs2141204865 | 823 | Q>L | No | Ensembl | |
| rs2141204865 | 823 | Q>R | No | Ensembl | |
| rs2141204828 | 824 | V>E | No | Ensembl | |
| rs2052993006 | 824 | V>L | No | TOPMed | |
| rs2052993006 | 824 | V>M | No | TOPMed | |
| rs960806841 | 825 | P>A | No | TOPMed | |
| rs768816445 | 825 | P>L | No |
TOPMed gnomAD |
|
| rs960806841 | 825 | P>S | No | TOPMed | |
| rs960806841 | 825 | P>T | No | TOPMed | |
| rs2141204723 | 826 | G>A | No | Ensembl | |
| rs1408864175 | 826 | G>C | No | gnomAD | |
| rs2141204723 | 826 | G>D | No | Ensembl | |
| rs1408864175 | 826 | G>R | No | gnomAD | |
| rs1408864175 | 826 | G>S | No | gnomAD | |
| rs2141204723 | 826 | G>V | No | Ensembl | |
| rs2141204711 | 827 | A>P | No | Ensembl | |
| rs2141204711 | 827 | A>S | No | Ensembl | |
| rs2141204711 | 827 | A>T | No | Ensembl | |
| rs746135408 | 827 | A>V | No |
ExAC gnomAD |
|
| rs1468307928 | 828 | A>G | No | gnomAD | |
| rs779000839 | 828 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs779000839 | 828 | A>T | No |
ExAC TOPMed gnomAD |
|
|
RCV001768457 rs1468307928 |
828 | A>V | No |
ClinVar dbSNP gnomAD |
|
| rs2052992367 | 829 | L>F | No |
TOPMed gnomAD |
|
| rs2052992367 | 829 | L>I | No |
TOPMed gnomAD |
|
| rs2052992367 | 829 | L>V | No |
TOPMed gnomAD |
|
| rs2141204599 | 830 | P>A | No | Ensembl | |
| rs1400600409 | 830 | P>R | No | Ensembl | |
| rs2141204599 | 830 | P>S | No | Ensembl | |
| rs2141204563 | 831 | N>T | No | Ensembl | |
| rs2141204572 | 831 | N>Y | No | Ensembl | |
| rs376047316 | 832 | P>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs755952440 | 832 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs755952440 | 832 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs755952440 | 832 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs376047316 | 832 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs376047316 | 832 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs200474872 | 833 | L>F | No |
TOPMed gnomAD |
|
| rs2141204486 | 833 | L>H | No | Ensembl | |
| rs2141204486 | 833 | L>P | No | Ensembl | |
| rs1205756499 | 834 | N>I | No |
TOPMed gnomAD |
|
| rs752606825 | 834 | N>K | No |
ExAC gnomAD |
|
| rs1205756499 | 834 | N>S | No |
TOPMed gnomAD |
|
| rs1205756499 | 834 | N>T | No |
TOPMed gnomAD |
|
| rs2052991505 | 835 | M>K | No | gnomAD | |
| rs767051018 | 835 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs2052991505 | 835 | M>T | No | gnomAD | |
| rs767051018 | 835 | M>V | No |
ExAC TOPMed gnomAD |
|
| COSM4060713 | 836 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1335692925 | 836 | L>P | No | gnomAD | |
| rs1335692925 | 836 | L>Q | No | gnomAD | |
| rs2052991336 | 836 | L>V | No | Ensembl | |
| rs2141204311 | 837 | G>A | No | Ensembl | |
| rs2141204311 | 837 | G>E | No | Ensembl | |
| COSM69054 | 837 | G>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2141204332 | 837 | G>R | No | Ensembl | |
|
COSM395599 rs2141204311 |
837 | G>V | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs2141204332 | 837 | G>W | No | Ensembl | |
| rs2141204279 | 838 | P>H | No | Ensembl | |
| rs2141204279 | 838 | P>R | No | Ensembl | |
|
rs2141204251 COSM254633 |
839 | Q>* | Variant assessed as Somatic; HIGH impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2141204251 | 839 | Q>E | No | Ensembl | |
|
COSM1377854 rs2141204213 |
839 | Q>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2141204225 | 839 | Q>L | No | Ensembl | |
| rs2141204225 | 839 | Q>P | No | Ensembl | |
|
COSM272537 rs2141204225 |
839 | Q>R | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2141204192 | 840 | A>D | No | Ensembl | |
| rs2141204192 | 840 | A>G | No | Ensembl | |
| rs2052991104 | 840 | A>P | No | Ensembl | |
| rs2052991104 | 840 | A>S | No | Ensembl | |
| rs2052991104 | 840 | A>T | No | Ensembl | |
| rs2141204192 | 840 | A>V | No | Ensembl | |
| rs2141204166 | 841 | S>I | No | Ensembl | |
| rs2141204166 | 841 | S>N | No | Ensembl | |
| rs1288923624 | 841 | S>R | No | TOPMed | |
| rs2141204166 | 841 | S>T | No | Ensembl | |
| rs2141204126 | 842 | Q>* | No | Ensembl | |
| rs141775567 | 842 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs2141204126 | 842 | Q>K | No | Ensembl | |
| rs970929591 | 842 | Q>P | No | Ensembl | |
| TCGA novel | 843 | L>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs187842756 | 843 | L>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2052990480 | 844 | P>A | No | Ensembl | |
| rs2141204039 | 844 | P>H | No | Ensembl | |
| rs2141204039 | 844 | P>L | No | Ensembl | |
| rs2141204039 | 844 | P>R | No | Ensembl | |
| rs2141203989 | 845 | C>F | No | Ensembl | |
| rs2141204007 | 845 | C>G | No | Ensembl | |
| rs2141204007 | 845 | C>R | No | Ensembl | |
| rs2141203989 | 845 | C>S | No | Ensembl | |
| rs587783471 | 845 | C>W | No | Ensembl | |
| rs2141203989 | 845 | C>Y | No | Ensembl | |
| rs371282657 | 846 | P>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs371282657 | 846 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 846 | P>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs371282657 | 846 | P>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs139050013 | 847 | P>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2141203901 | 847 | P>L | No | Ensembl | |
| rs2141203901 | 847 | P>Q | No | Ensembl | |
| rs2141203901 | 847 | P>R | No | Ensembl | |
| rs139050013 | 847 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000120592 CA158168 rs139050013 |
847 | P>T | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs2141203846 | 848 | V>A | No | Ensembl | |
| rs2141203846 | 848 | V>E | No | Ensembl | |
| rs2141203846 | 848 | V>G | No | Ensembl | |
| rs1247383237 | 848 | V>L | No | TOPMed | |
| rs1247383237 | 848 | V>M | No | TOPMed | |
| rs1461699733 | 849 | T>A | No |
TOPMed gnomAD |
|
| rs1461699733 | 849 | T>P | No |
TOPMed gnomAD |
|
| rs1461699733 | 849 | T>S | No |
TOPMed gnomAD |
|
| rs1393261143 | 850 | Q>* | No | gnomAD | |
| rs1393261143 | 850 | Q>E | No | gnomAD | |
| rs562943588 | 850 | Q>H | No |
1000Genomes ExAC gnomAD |
|
| rs2052989747 | 850 | Q>L | No | TOPMed | |
| rs2052989747 | 850 | Q>P | No | TOPMed | |
| rs2052989747 | 850 | Q>R | No | TOPMed | |
| rs2141203723 | 851 | S>* | No | Ensembl | |
| rs2141203735 | 851 | S>A | No | Ensembl | |
| rs2141203723 | 851 | S>L | No | Ensembl | |
| rs2141203735 | 851 | S>P | No | Ensembl | |
| rs2141203735 | 851 | S>T | No | Ensembl | |
| rs138314886 | 852 | P>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs2141203672 | 852 | P>L | No | Ensembl | |
| rs2141203672 | 852 | P>R | No | Ensembl | |
| rs138314886 | 852 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs138314886 | 852 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs201496321 | 853 | L>P | No |
1000Genomes TOPMed |
|
| rs201496321 | 853 | L>Q | No |
1000Genomes TOPMed |
|
| rs201496321 | 853 | L>R | No |
1000Genomes TOPMed |
|
| rs542970560 | 853 | L>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2052989178 | 854 | H>D | No | TOPMed | |
| rs755869801 | 854 | H>L | No |
ExAC TOPMed gnomAD |
|
| rs755869801 | 854 | H>P | No |
ExAC TOPMed gnomAD |
|
| rs749274639 | 854 | H>Q | No | Ensembl | |
| rs2052989178 | 854 | H>Y | No | TOPMed | |
| rs2141203547 | 855 | P>A | No | Ensembl | |
| rs752694988 | 855 | P>L | No |
ExAC gnomAD |
|
| rs752694988 | 855 | P>Q | No |
ExAC gnomAD |
|
| rs752694988 | 855 | P>R | No |
ExAC gnomAD |
|
| rs2141203547 | 855 | P>S | No | Ensembl | |
| rs2141203547 | 855 | P>T | No | Ensembl | |
| rs373531233 | 856 | T>A | No |
ESP ExAC TOPMed gnomAD |
|
|
rs2141203517 COSM1661273 |
856 | T>I | kidney [Cosmic] | No |
cosmic curated Ensembl |
| rs2141203517 | 856 | T>R | No | Ensembl | |
| rs1252613003 | 857 | P>A | No | gnomAD | |
| rs766086544 | 857 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs766086544 | 857 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1252613003 | 857 | P>S | No | gnomAD | |
| rs1252613003 | 857 | P>T | No | gnomAD | |
| rs145733598 | 858 | P>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM970594 rs2141203412 |
858 | P>L | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2141203412 | 858 | P>R | No | Ensembl | |
| rs761119395 | 859 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs1348448638 | 859 | P>L | No | gnomAD | |
| rs1348448638 | 859 | P>R | No | gnomAD | |
| rs761119395 | 859 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs776199399 | 860 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs2141203326 | 860 | A>P | No | Ensembl | |
| rs2141203326 | 860 | A>S | No | Ensembl | |
| rs2141203326 | 860 | A>T | No | Ensembl | |
| rs776199399 | 860 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs201366304 | 861 | S>C | No | gnomAD | |
| rs201366304 | 861 | S>F | No | gnomAD | |
| rs2141203274 | 861 | S>P | No | Ensembl | |
| rs2141203274 | 861 | S>T | No | Ensembl | |
| rs772653113 | 862 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs772653113 | 862 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs2141203220 | 862 | T>S | No | Ensembl | |
| rs2141203174 | 863 | A>G | No | Ensembl | |
| rs2141203174 | 863 | A>V | No | Ensembl | |
| rs2141203131 | 864 | A>G | No | Ensembl | |
| rs2141203151 | 864 | A>P | No | Ensembl | |
| rs2141203151 | 864 | A>T | No | Ensembl | |
| rs2141203131 | 864 | A>V | No | Ensembl | |
| rs1287881042 | 865 | G>A | No |
TOPMed gnomAD |
|
| rs1287881042 | 865 | G>D | No |
TOPMed gnomAD |
|
| rs1428217142 | 865 | G>R | No | TOPMed | |
| rs1428217142 | 865 | G>S | No | TOPMed | |
| rs1287881042 | 865 | G>V | No |
TOPMed gnomAD |
|
| rs2141203055 | 866 | M>K | No | Ensembl | |
| rs368912102 | 866 | M>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs2141203055 | 866 | M>R | No | Ensembl | |
| rs2141203055 | 866 | M>T | No | Ensembl | |
| rs368912102 | 866 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs2141203018 | 867 | P>A | No | Ensembl | |
| rs1378993688 | 867 | P>L | No |
TOPMed gnomAD |
|
| rs1378993688 | 867 | P>R | No |
TOPMed gnomAD |
|
| rs2141203018 | 867 | P>S | No | Ensembl | |
| rs2141203018 | 867 | P>T | No | Ensembl | |
| rs2052987373 | 868 | S>C | No | Ensembl | |
| rs2141202976 | 868 | S>P | No | Ensembl | |
| rs2141202976 | 868 | S>T | No | Ensembl | |
| rs769634295 | 869 | L>F | No |
ExAC gnomAD |
|
| rs587783472 | 869 | L>H | No | Ensembl | |
| rs769634295 | 869 | L>I | No |
ExAC gnomAD |
|
| rs769634295 | 869 | L>V | No |
ExAC gnomAD |
|
| rs2141202858 | 870 | Q>H | No | Ensembl | |
| rs2052987016 | 870 | Q>K | No | TOPMed | |
| rs2141202832 | 871 | H>D | No | Ensembl | |
| rs2141202810 | 871 | H>L | No | Ensembl | |
| rs2141202832 | 871 | H>N | No | Ensembl | |
| rs2141202810 | 871 | H>P | No | Ensembl | |
| rs200323767 | 871 | H>Q | No | Ensembl | |
| rs2141202832 | 871 | H>Y | No | Ensembl | |
| rs2141202776 | 872 | T>A | No | Ensembl | |
| rs747877878 | 872 | T>K | No |
ExAC gnomAD |
|
|
COSM2920017 RCV001532275 rs747877878 |
872 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA dbSNP gnomAD |
| rs2141202776 | 872 | T>P | No | Ensembl | |
| rs747877878 | 872 | T>R | No |
ExAC gnomAD |
|
| rs2141202776 | 872 | T>S | No | Ensembl | |
| rs771929482 | 873 | T>A | No |
ExAC gnomAD |
|
| rs2141202712 | 873 | T>I | No | Ensembl | |
| rs2141202712 | 873 | T>K | No | Ensembl | |
| rs771929482 | 873 | T>P | No |
ExAC gnomAD |
|
| rs2141202712 | 873 | T>R | No | Ensembl | |
| rs771929482 | 873 | T>S | No |
ExAC gnomAD |
|
| rs2141202688 | 874 | P>A | No | Ensembl | |
| rs2141202679 | 874 | P>Q | No | Ensembl | |
| rs2141202688 | 874 | P>S | No | Ensembl | |
| rs1242554712 | 875 | P>A | No | gnomAD | |
| rs2141202623 | 875 | P>H | No | Ensembl | |
| rs2141202623 | 875 | P>L | No | Ensembl | |
| rs2141202623 | 875 | P>R | No | Ensembl | |
| rs1242554712 | 875 | P>S | No | gnomAD | |
| rs1242554712 | 875 | P>T | No | gnomAD | |
| rs1247592335 | 876 | G>A | No |
TOPMed gnomAD |
|
| rs1247592335 | 876 | G>E | No |
TOPMed gnomAD |
|
| rs1247592335 | 876 | G>V | No |
TOPMed gnomAD |
|
| rs746552957 | 876 | G>W | No |
ExAC TOPMed gnomAD |
|
| rs2141202531 | 877 | M>I | No | Ensembl | |
| rs2141202549 | 877 | M>K | No | Ensembl | |
| rs1461926436 | 877 | M>L | No | TOPMed | |
| rs2141202549 | 877 | M>R | No | Ensembl | |
| rs1596886715 | 878 | T>A | No | Ensembl | |
| rs919098925 | 878 | T>I | No | Ensembl | |
| rs1596886715 | 878 | T>P | No | Ensembl | |
| rs919098925 | 878 | T>S | No | Ensembl | |
| rs1596886715 | 878 | T>S | No | Ensembl | |
| rs779479811 | 879 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs779479811 | 879 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs2052985727 | 880 | P>A | No | TOPMed | |
| rs2141202426 | 880 | P>H | No | Ensembl | |
| rs2141202426 | 880 | P>L | No | Ensembl | |
| rs2141202426 | 880 | P>R | No | Ensembl | |
| rs2052985727 | 880 | P>S | No | TOPMed | |
| rs2052985727 | 880 | P>T | No | TOPMed | |
|
TCGA novel rs2141202384 |
881 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2141202384 | 881 | Q>E | No | Ensembl | |
| rs1415456438 | 881 | Q>H | No |
TOPMed gnomAD |
|
| rs2141202384 | 881 | Q>K | No | Ensembl | |
| rs2141202369 | 881 | Q>L | No | Ensembl | |
| rs750112034 | 882 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs764972626 | 882 | P>L | No |
ExAC gnomAD |
|
| rs764972626 | 882 | P>Q | No |
ExAC gnomAD |
|
| rs764972626 | 882 | P>R | No |
ExAC gnomAD |
|
| rs750112034 | 882 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs750112034 | 882 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs1362223227 | 883 | A>E | No | gnomAD | |
| rs1362223227 | 883 | A>G | No | gnomAD | |
| rs1216005413 | 883 | A>P | No | gnomAD | |
| rs1216005413 | 883 | A>T | No | gnomAD | |
| rs1362223227 | 883 | A>V | No | gnomAD | |
| rs2052985278 | 884 | A>G | No | Ensembl | |
| rs2141202234 | 884 | A>P | No | Ensembl | |
| rs2141202234 | 884 | A>S | No | Ensembl | |
|
rs2141202234 COSM117417 |
884 | A>T | ovary [Cosmic] | No |
cosmic curated Ensembl |
| rs2052985278 | 884 | A>V | No | Ensembl | |
| rs756563219 | 885 | P>A | No |
ExAC gnomAD |
|
| rs2141202170 | 885 | P>H | No | Ensembl | |
| rs2141202170 | 885 | P>L | No | Ensembl | |
| rs2141202170 | 885 | P>R | No | Ensembl | |
| rs756563219 | 885 | P>S | No |
ExAC gnomAD |
|
| rs756563219 | 885 | P>T | No |
ExAC gnomAD |
|
|
RCV000434050 rs1057520589 COSM417008 CA16607300 |
887 | Q>* | Variant assessed as Somatic; HIGH impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
| rs1057520589 | 887 | Q>E | No | Ensembl | |
| rs2141202078 | 887 | Q>H | No | Ensembl | |
| rs1057520589 | 887 | Q>K | No | Ensembl | |
| rs2141202097 | 887 | Q>L | No | Ensembl | |
| rs2141202097 | 887 | Q>P | No | Ensembl | |
| rs2141202097 | 887 | Q>R | No | Ensembl | |
| rs2141202057 | 888 | P>A | No | Ensembl | |
| rs753048905 | 888 | P>L | No |
ExAC gnomAD |
|
| rs753048905 | 888 | P>Q | No |
ExAC gnomAD |
|
| rs753048905 | 888 | P>R | No |
ExAC gnomAD |
|
| rs2141202057 | 888 | P>S | No | Ensembl | |
| rs2141202057 | 888 | P>T | No | Ensembl | |
|
rs1473105055 COSM1301959 |
889 | S>* | Variant assessed as Somatic; HIGH impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed gnomAD |
| rs768173935 | 889 | S>A | No |
ExAC gnomAD |
|
| rs1473105055 | 889 | S>L | No |
TOPMed gnomAD |
|
| rs768173935 | 889 | S>P | No |
ExAC gnomAD |
|
| rs768173935 | 889 | S>T | No |
ExAC gnomAD |
|
| rs370012973 | 890 | T>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs2141201939 | 890 | T>I | No | Ensembl | |
| rs370012973 | 890 | T>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs2141201939 | 890 | T>S | No | Ensembl | |
| rs2141201904 | 891 | P>A | No | Ensembl | |
| rs2141201890 | 891 | P>H | No | Ensembl | |
|
TCGA novel rs2141201890 |
891 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| TCGA novel | 891 | P>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2141201890 | 891 | P>R | No | Ensembl | |
| rs2141201904 | 891 | P>S | No | Ensembl | |
| rs2141201904 | 891 | P>T | No | Ensembl | |
| rs1435857625 | 892 | V>A | No | gnomAD | |
| rs1435857625 | 892 | V>E | No | gnomAD | |
| rs1435857625 | 892 | V>G | No | gnomAD | |
| rs2141201850 | 892 | V>L | No | Ensembl | |
| rs2141201801 | 893 | S>A | No | Ensembl | |
|
rs2141201801 COSM1377853 |
893 | S>P | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs2141201801 | 893 | S>T | No | Ensembl | |
| rs142047649 | 893 | S>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2141201740 | 894 | S>A | No | Ensembl | |
| rs2141201709 | 894 | S>C | No | Ensembl | |
| rs2141201709 | 894 | S>F | No | Ensembl | |
| rs2141201740 | 894 | S>P | No | Ensembl | |
| rs2141201740 | 894 | S>T | No | Ensembl | |
| rs2141201709 | 894 | S>Y | No | Ensembl | |
| rs2141201659 | 895 | S>C | No | Ensembl | |
| rs2141201659 | 895 | S>F | No | Ensembl | |
| rs2141201675 | 895 | S>P | No | Ensembl | |
| rs2141201675 | 895 | S>T | No | Ensembl | |
| rs2141201659 | 895 | S>Y | No | Ensembl | |
| rs2141201595 | 896 | G>A | No | Ensembl | |
| rs2141201595 | 896 | G>E | No | Ensembl | |
|
rs769934215 COSM1493694 |
896 | G>R | kidney [Cosmic] | No |
cosmic curated ExAC |
| rs2141201595 | 896 | G>V | No | Ensembl | |
| rs769934215 | 896 | G>W | No | ExAC | |
|
rs794727124 CA275010 RCV000174746 |
897 | Q>missing | No |
ClinGen ClinVar dbSNP |
|
| rs2141201555 | 897 | Q>* | No | Ensembl | |
| rs2141201555 | 897 | Q>E | No | Ensembl | |
| rs2141201506 | 897 | Q>H | No | Ensembl | |
| rs2141201555 | 897 | Q>K | No | Ensembl | |
| rs2141201523 | 897 | Q>L | No | Ensembl | |
| rs2141201523 | 897 | Q>P | No | Ensembl | |
| rs2141201523 | 897 | Q>R | No | Ensembl | |
| rs2141201491 | 898 | T>A | No | Ensembl | |
| rs2141201482 | 898 | T>I | No | Ensembl | |
| rs2141201491 | 898 | T>P | No | Ensembl | |
| rs2141201491 | 898 | T>S | No | Ensembl | |
| rs2141201482 | 898 | T>S | No | Ensembl | |
| rs2141201436 | 899 | P>H | No | Ensembl | |
| rs2141201436 | 899 | P>L | No | Ensembl | |
| rs2141201436 | 899 | P>R | No | Ensembl | |
| rs1186080322 | 899 | P>S | No |
TOPMed gnomAD |
|
| rs1186080322 | 899 | P>T | No |
TOPMed gnomAD |
|
| rs2052983408 | 900 | T>A | No | TOPMed | |
| rs2141201380 | 900 | T>I | No | Ensembl | |
| rs2141201380 | 900 | T>N | No | Ensembl | |
| rs2052983408 | 900 | T>S | No | TOPMed | |
| rs2141201380 | 900 | T>S | No | Ensembl | |
| rs148286133 | 901 | P>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs1485287458 | 901 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1485287458 | 901 | P>Q | No |
TOPMed gnomAD |
|
| rs1485287458 | 901 | P>R | No |
TOPMed gnomAD |
|
| rs148286133 | 901 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs148286133 | 901 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs2141201290 | 902 | T>A | No | Ensembl | |
| rs1332741491 | 902 | T>I | No | Ensembl | |
| rs1332741491 | 902 | T>N | No | Ensembl | |
| rs2141201290 | 902 | T>P | No | Ensembl | |
| rs2141201290 | 902 | T>S | No | Ensembl | |
| rs1332741491 | 902 | T>S | No | Ensembl | |
| rs2141201256 | 903 | P>A | No | Ensembl | |
|
COSM970592 rs2141201229 |
903 | P>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2141201229 | 903 | P>L | No | Ensembl | |
| rs2141201229 | 903 | P>R | No | Ensembl | |
| rs2141201256 | 903 | P>S | No | Ensembl | |
| rs2141201256 | 903 | P>T | No | Ensembl | |
| rs958396907 | 904 | G>A | No | Ensembl | |
| rs2141201197 | 904 | G>C | No | Ensembl | |
| rs958396907 | 904 | G>D | No | Ensembl | |
| rs2141201197 | 904 | G>R | No | Ensembl | |
| rs2141201197 | 904 | G>S | No | Ensembl | |
| rs958396907 | 904 | G>V | No | Ensembl | |
| rs1596886307 | 905 | S>* | No | Ensembl | |
| rs1596886307 | 905 | S>L | No | Ensembl | |
| rs1205995511 | 905 | S>P | No | gnomAD | |
| rs1205995511 | 905 | S>T | No | gnomAD | |
| rs2141201106 | 906 | V>A | No | Ensembl | |
| rs2141201106 | 906 | V>E | No | Ensembl | |
| rs2141201106 | 906 | V>G | No | Ensembl | |
| rs2141201118 | 906 | V>L | No | Ensembl | |
| rs2141201118 | 906 | V>M | No | Ensembl | |
| rs2052982420 | 907 | P>A | No | TOPMed | |
| rs2141201035 | 907 | P>H | No | Ensembl | |
| rs2141201035 | 907 | P>L | No | Ensembl | |
| rs2141201035 | 907 | P>R | No | Ensembl | |
| rs2052982420 | 907 | P>S | No | TOPMed | |
| rs2052982420 | 907 | P>T | No | TOPMed | |
| rs780037937 | 908 | S>G | No |
ExAC gnomAD |
|
| rs2052982232 | 908 | S>I | No | TOPMed | |
| rs2052982232 | 908 | S>N | No | TOPMed | |
| rs2141200995 | 908 | S>R | No | Ensembl | |
| rs780037937 | 908 | S>R | No |
ExAC gnomAD |
|
| rs2052982232 | 908 | S>T | No | TOPMed | |
| rs757905988 | 909 | A>G | No |
ExAC gnomAD |
|
| rs2141200981 | 909 | A>P | No | Ensembl | |
| rs2141200981 | 909 | A>S | No | Ensembl | |
| rs2141200981 | 909 | A>T | No | Ensembl | |
| rs757905988 | 909 | A>V | No |
ExAC gnomAD |
|
| rs982389148 | 910 | T>I | No | Ensembl | |
| rs982389148 | 910 | T>N | No | Ensembl | |
| rs143247685 | 910 | T>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs982389148 | 910 | T>S | No | Ensembl | |
|
COSM1645457 rs2141200885 |
911 | Q>* | Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2141200885 | 911 | Q>E | No | Ensembl | |
| rs1267554014 | 911 | Q>H | No | TOPMed | |
| rs2141200885 | 911 | Q>K | No | Ensembl | |
| rs2141200848 | 912 | T>A | No | Ensembl | |
|
rs1567299077 RCV000762184 |
912 | T>I | No |
ClinVar Ensembl dbSNP |
|
| rs1567299077 | 912 | T>N | No | Ensembl | |
| rs2141200848 | 912 | T>P | No | Ensembl | |
| rs1567299077 | 912 | T>S | No | Ensembl | |
| rs2141200848 | 912 | T>S | No | Ensembl | |
| rs2141200782 | 913 | Q>* | No | Ensembl | |
| rs2141200782 | 913 | Q>E | No | Ensembl | |
| rs2141200749 | 913 | Q>H | No | Ensembl | |
| rs2141200782 | 913 | Q>K | No | Ensembl | |
| rs2141200769 | 913 | Q>R | No | Ensembl | |
| rs2141200733 | 914 | S>C | No | Ensembl | |
| rs2141200733 | 914 | S>G | No | Ensembl | |
| rs756935046 | 914 | S>I | No |
ExAC TOPMed gnomAD |
|
| rs756935046 | 914 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs2141200733 | 914 | S>R | No | Ensembl | |
| rs756935046 | 914 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs2052981567 | 915 | T>A | No | gnomAD | |
| rs2141200668 | 915 | T>I | No | Ensembl | |
| rs2141200668 | 915 | T>N | No | Ensembl | |
| rs2052981567 | 915 | T>P | No | gnomAD | |
| rs2052981567 | 915 | T>S | No | gnomAD | |
| rs2141200668 | 915 | T>S | No | Ensembl | |
| rs2141200635 | 916 | P>A | No | Ensembl | |
| rs2141200615 | 916 | P>H | No | Ensembl | |
| rs2141200615 | 916 | P>L | No | Ensembl | |
| rs2141200615 | 916 | P>R | No | Ensembl | |
| rs2141200635 | 916 | P>S | No | Ensembl | |
| rs2141200635 | 916 | P>T | No | Ensembl | |
|
RCV001767239 rs2141200571 |
917 | T>missing | No |
ClinVar dbSNP |
|
| rs2141200590 | 917 | T>A | No | Ensembl | |
| rs2141200560 | 917 | T>I | No | Ensembl | |
| rs2141200560 | 917 | T>R | No | Ensembl | |
| rs2141200590 | 917 | T>S | No | Ensembl | |
| rs2141200505 | 918 | V>A | No | Ensembl | |
| rs2141200505 | 918 | V>D | No | Ensembl | |
| rs2141200505 | 918 | V>G | No | Ensembl | |
| rs2141200520 | 918 | V>I | No | Ensembl | |
| rs2141200520 | 918 | V>L | No | Ensembl | |
| rs1596886183 | 919 | Q>E | No | Ensembl | |
| rs2141200443 | 919 | Q>H | No | Ensembl | |
| rs1596886183 | 919 | Q>K | No | Ensembl | |
| rs2141200460 | 919 | Q>L | No | Ensembl | |
| rs2141200400 | 920 | A>G | No | Ensembl | |
| rs1205797392 | 920 | A>P | No | TOPMed | |
| rs1205797392 | 920 | A>S | No | TOPMed | |
| rs1205797392 | 920 | A>T | No | TOPMed | |
| rs2141200400 | 920 | A>V | No | Ensembl | |
| rs2141200335 | 921 | A>E | No | Ensembl | |
| rs2141200335 | 921 | A>G | No | Ensembl | |
| rs2141200358 | 921 | A>P | No | Ensembl | |
| rs2141200358 | 921 | A>S | No | Ensembl | |
| rs2141200358 | 921 | A>T | No | Ensembl | |
| rs2141200335 | 921 | A>V | No | Ensembl | |
| rs868054808 | 922 | A>D | No | TOPMed | |
| rs868054808 | 922 | A>G | No | TOPMed | |
| rs920589851 | 922 | A>P | No | TOPMed | |
| rs920589851 | 922 | A>S | No | TOPMed | |
| rs920589851 | 922 | A>T | No | TOPMed | |
| rs868054808 | 922 | A>V | No | TOPMed | |
| rs2141200227 | 923 | Q>* | No | Ensembl | |
| rs2141200227 | 923 | Q>E | No | Ensembl | |
| rs13338460 | 923 | Q>H | No | Ensembl | |
| rs2141200227 | 923 | Q>K | No | Ensembl | |
| rs1441588998 | 923 | Q>R | No | TOPMed | |
| rs2141200146 | 924 | A>D | No | Ensembl | |
| rs2141200146 | 924 | A>G | No | Ensembl | |
| rs2141200170 | 924 | A>P | No | Ensembl | |
| rs2141200170 | 924 | A>S | No | Ensembl | |
| rs2141200170 | 924 | A>T | No | Ensembl | |
| rs2141200146 | 924 | A>V | No | Ensembl | |
| rs1596886132 | 925 | Q>E | No | Ensembl | |
| rs1416003104 | 925 | Q>H | No |
TOPMed gnomAD |
|
| rs1596886132 | 925 | Q>K | No | Ensembl | |
| rs753514648 | 926 | V>L | No |
ExAC gnomAD |
|
| rs753514648 | 926 | V>M | No |
ExAC gnomAD |
|
| rs1596886078 | 927 | T>A | No | Ensembl | |
| rs2052980526 | 927 | T>I | No | Ensembl | |
| rs2052980526 | 927 | T>N | No | Ensembl | |
| rs1596886078 | 927 | T>P | No | Ensembl | |
| rs2052980526 | 927 | T>S | No | Ensembl | |
| rs1596886078 | 927 | T>S | No | Ensembl | |
| rs2141199944 | 928 | P>A | No | Ensembl | |
| rs768030911 | 928 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs768030911 | 928 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs768030911 | 928 | P>R | No |
ExAC TOPMed gnomAD |
|
|
rs2141199944 COSM3509560 |
928 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2141199944 | 928 | P>T | No | Ensembl | |
| rs2052980215 | 929 | Q>H | No | gnomAD | |
| rs2141199900 | 929 | Q>L | No | Ensembl | |
| rs2141199900 | 929 | Q>P | No | Ensembl | |
| rs2141199900 | 929 | Q>R | No | Ensembl | |
| rs1464234725 | 930 | P>A | No |
TOPMed gnomAD |
|
| rs2141199829 | 930 | P>H | No | Ensembl | |
| rs2141199829 | 930 | P>L | No | Ensembl | |
| rs2141199829 | 930 | P>R | No | Ensembl | |
| rs1464234725 | 930 | P>S | No |
TOPMed gnomAD |
|
| rs1464234725 | 930 | P>T | No |
TOPMed gnomAD |
|
| rs587783475 | 931 | Q>E | No | Ensembl | |
| rs2141199771 | 931 | Q>H | No | Ensembl | |
| rs587783475 | 931 | Q>K | No | Ensembl | |
| rs1596886018 | 932 | T>A | No | Ensembl | |
| rs2052979876 | 932 | T>I | No | Ensembl | |
| rs2052979876 | 932 | T>N | No | Ensembl | |
| rs1596886018 | 932 | T>P | No | Ensembl | |
| rs1596886018 | 932 | T>S | No | Ensembl | |
|
TCGA novel rs2052979876 |
932 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2141199692 | 933 | P>A | No | Ensembl | |
| rs2141199659 | 933 | P>L | No | Ensembl | |
| rs2141199659 | 933 | P>Q | No | Ensembl | |
| rs2141199659 | 933 | P>R | No | Ensembl | |
| rs2141199692 | 933 | P>S | No | Ensembl | |
| rs2141199692 | 933 | P>T | No | Ensembl | |
| rs2141199602 | 934 | V>A | No | Ensembl | |
| rs2141199602 | 934 | V>D | No | Ensembl | |
| rs1188372540 | 934 | V>F | No | gnomAD | |
| rs2141199602 | 934 | V>G | No | Ensembl | |
| rs1188372540 | 934 | V>I | No | gnomAD | |
| rs1188372540 | 934 | V>L | No | gnomAD | |
| rs2141199590 | 935 | Q>* | No | Ensembl | |
| rs2141199590 | 935 | Q>E | No | Ensembl | |
| rs988744134 | 935 | Q>H | No | gnomAD | |
| rs1015854406 | 935 | Q>L | No |
TOPMed gnomAD |
|
| rs1015854406 | 935 | Q>P | No |
TOPMed gnomAD |
|
| rs1015854406 | 935 | Q>R | No |
TOPMed gnomAD |
|
| rs1470759220 | 936 | P>A | No |
TOPMed gnomAD |
|
| rs1470759220 | 936 | P>S | No |
TOPMed gnomAD |
|
| rs1470759220 | 936 | P>T | No |
TOPMed gnomAD |
|
| rs958182587 | 936 | P>L | No |
TOPMed gnomAD |
|
| rs958182587 | 936 | P>R | No |
TOPMed gnomAD |
|
| rs766849648 | 937 | P>L | No |
ExAC gnomAD |
|
| rs766849648 | 937 | P>Q | No |
ExAC gnomAD |
|
| rs766849648 | 937 | P>R | No |
ExAC gnomAD |
|
|
COSM21712 rs752062116 |
937 | P>S | skin [Cosmic] | No |
cosmic curated ExAC gnomAD |
|
rs752062116 COSM3361761 |
937 | P>T | kidney [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs2141199418 | 938 | S>A | No | Ensembl | |
| rs2141199407 | 938 | S>C | No | Ensembl | |
| rs2141199407 | 938 | S>F | No | Ensembl | |
| rs2141199418 | 938 | S>P | No | Ensembl | |
| rs2141199418 | 938 | S>T | No | Ensembl | |
| rs2141199347 | 939 | V>A | No | Ensembl | |
| rs2141199347 | 939 | V>E | No | Ensembl | |
| rs2141199347 | 939 | V>G | No | Ensembl | |
| rs2141199365 | 939 | V>L | No | Ensembl | |
| rs2141199365 | 939 | V>M | No | Ensembl | |
| rs1286524799 | 940 | A>P | No | gnomAD | |
| rs1286524799 | 940 | A>S | No | gnomAD | |
| rs1286524799 | 940 | A>T | No | gnomAD | |
| rs372981734 | 941 | T>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs765466432 | 941 | T>I | No |
ExAC gnomAD |
|
| rs765466432 | 941 | T>N | No |
ExAC gnomAD |
|
| rs372981734 | 941 | T>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs372981734 | 941 | T>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs765466432 | 941 | T>S | No |
ExAC gnomAD |
|
| rs776803900 | 942 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs2141199198 | 942 | P>H | No | Ensembl | |
| rs2141199198 | 942 | P>L | No | Ensembl | |
| rs2141199198 | 942 | P>R | No | Ensembl | |
| rs776803900 | 942 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs776803900 | 942 | P>T | No |
ExAC TOPMed gnomAD |
|
|
rs2141199175 COSM703029 |
943 | Q>* | lung Variant assessed as Somatic; HIGH impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2141199175 | 943 | Q>E | No | Ensembl | |
| rs2141199145 | 943 | Q>H | No | Ensembl | |
| rs760507167 | 943 | Q>L | No |
ExAC gnomAD |
|
| rs760507167 | 943 | Q>R | No |
ExAC gnomAD |
|
| rs2141199113 | 944 | S>* | No | Ensembl | |
| rs2141199132 | 944 | S>A | No | Ensembl | |
| rs2141199113 | 944 | S>L | No | Ensembl | |
| rs2141199132 | 944 | S>P | No | Ensembl | |
| rs2141199132 | 944 | S>T | No | Ensembl | |
| rs2052978189 | 945 | S>* | No | TOPMed | |
| rs2141199072 | 945 | S>A | No | Ensembl | |
| rs2052978189 | 945 | S>L | No | TOPMed | |
| rs2141199072 | 945 | S>P | No | Ensembl | |
| rs2141199072 | 945 | S>T | No | Ensembl | |
| rs2052978189 | 945 | S>W | No | TOPMed | |
| rs2141199028 | 946 | Q>* | No | Ensembl | |
| rs2141199028 | 946 | Q>E | No | Ensembl | |
| rs1297657584 | 946 | Q>H | No |
TOPMed gnomAD |
|
| rs2141199028 | 946 | Q>K | No | Ensembl | |
| rs2141199017 | 946 | Q>L | No | Ensembl | |
| rs2141199017 | 946 | Q>R | No | Ensembl | |
| rs2141198984 | 947 | Q>* | No | Ensembl | |
| rs2141198984 | 947 | Q>E | No | Ensembl | |
| rs778521416 | 947 | Q>H | No |
ExAC gnomAD |
|
| rs2141198984 | 947 | Q>K | No | Ensembl | |
| rs2141198975 | 947 | Q>L | No | Ensembl | |
| rs2141198975 | 947 | Q>P | No | Ensembl | |
|
CA10603412 RCV000300871 rs886041468 |
948 | Q>missing | No |
ClinGen ClinVar dbSNP |
|
|
rs1007589994 TCGA novel |
948 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2141198939 | 948 | Q>L | No | Ensembl | |
| COSM4060712 | 948 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2141198908 | 949 | P>A | No | Ensembl | |
| rs147083140 | 949 | P>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2141198908 | 949 | P>S | No | Ensembl | |
| rs2141198908 | 949 | P>T | No | Ensembl | |
| rs2141198865 | 950 | T>A | No | Ensembl | |
| rs749011678 | 950 | T>K | No |
ExAC TOPMed gnomAD |
|
|
COSM122355 rs749011678 |
950 | T>M | upper_aerodigestive_tract [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs2141198865 | 950 | T>P | No | Ensembl | |
| rs749011678 | 950 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs2141198865 | 950 | T>S | No | Ensembl | |
| rs1419580982 | 951 | P>A | No |
TOPMed gnomAD |
|
| rs2141198804 | 951 | P>H | No | Ensembl | |
| rs2141198804 | 951 | P>R | No | Ensembl | |
| rs1419580982 | 951 | P>S | No |
TOPMed gnomAD |
|
| rs1419580982 | 951 | P>T | No |
TOPMed gnomAD |
|
| rs2141198753 | 952 | V>E | No | Ensembl | |
| rs2141198753 | 952 | V>G | No | Ensembl | |
| rs369930675 | 952 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs376623633 | 953 | H>D | No |
ESP ExAC gnomAD |
|
| rs2141198718 | 953 | H>L | No | Ensembl | |
| rs750906981 | 953 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs2141198718 | 953 | H>R | No | Ensembl | |
| rs376623633 | 953 | H>Y | No |
ESP ExAC gnomAD |
|
|
rs2141198660 COSM1645456 |
954 | A>D | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs2141198660 | 954 | A>G | No | Ensembl | |
| rs373284909 | 954 | A>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs373284909 | 954 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs2141198660 | 954 | A>V | No | Ensembl | |
|
rs2141198604 COSM5015351 |
955 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2141198604 | 955 | Q>E | No | Ensembl | |
| rs2141198586 | 955 | Q>H | No | Ensembl | |
| rs2052976872 | 956 | P>A | No | TOPMed | |
| rs2141198553 | 956 | P>H | No | Ensembl | |
| rs2141198553 | 956 | P>L | No | Ensembl | |
| rs2141198553 | 956 | P>R | No | Ensembl | |
| rs2052976872 | 956 | P>S | No | TOPMed | |
| rs2141198494 | 957 | P>H | No | Ensembl | |
| rs2141198494 | 957 | P>L | No | Ensembl | |
| rs2141198494 | 957 | P>R | No | Ensembl | |
| rs2141198510 | 957 | P>S | No | Ensembl | |
| rs2141198510 | 957 | P>T | No | Ensembl | |
| rs1356131652 | 958 | G>A | No | gnomAD | |
| rs2141198463 | 958 | G>C | No | Ensembl | |
| rs1356131652 | 958 | G>D | No | gnomAD | |
| rs2141198463 | 958 | G>R | No | Ensembl | |
| rs2141198463 | 958 | G>S | No | Ensembl | |
| rs1356131652 | 958 | G>V | No | gnomAD | |
| rs2141198410 | 959 | T>A | No | Ensembl | |
| rs2141198396 | 959 | T>I | No | Ensembl | |
| rs2141198410 | 959 | T>P | No | Ensembl | |
| rs2141198396 | 959 | T>R | No | Ensembl | |
| rs2141198410 | 959 | T>S | No | Ensembl | |
| rs1036266307 | 960 | P>A | No |
TOPMed gnomAD |
|
| rs761877981 | 960 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs761877981 | 960 | P>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1036266307 | 960 | P>S | No |
TOPMed gnomAD |
|
| rs1036266307 | 960 | P>T | No |
TOPMed gnomAD |
|
| rs757344471 | 961 | L>F | No |
ExAC gnomAD |
|
| rs753849982 | 961 | L>H | No |
ExAC gnomAD |
|
| rs753849982 | 961 | L>P | No |
ExAC gnomAD |
|
| rs753849982 | 961 | L>R | No |
ExAC gnomAD |
|
| rs757344471 | 961 | L>V | No |
ExAC gnomAD |
|
| rs905975793 | 962 | S>C | No | gnomAD | |
| rs905975793 | 962 | S>F | No | gnomAD | |
| rs2141192893 | 962 | S>T | No | Ensembl | |
| rs2141192834 | 963 | Q>* | No | Ensembl | |
| rs2141192834 | 963 | Q>E | No | Ensembl | |
| rs2141192812 | 963 | Q>H | No | Ensembl | |
| rs2141192796 | 964 | A>P | No | Ensembl | |
| rs2141192796 | 964 | A>S | No | Ensembl | |
| rs2141192796 | 964 | A>T | No | Ensembl | |
| rs760906604 | 964 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1436471058 | 965 | A>E | No | gnomAD | |
| rs1436471058 | 965 | A>G | No | gnomAD | |
| rs2141192763 | 965 | A>P | No | Ensembl | |
| rs2141192763 | 965 | A>S | No | Ensembl | |
| rs2141192763 | 965 | A>T | No | Ensembl | |
| rs1436471058 | 965 | A>V | No | gnomAD | |
| rs2141192693 | 966 | A>D | No | Ensembl | |
| rs2141192705 | 966 | A>P | No | Ensembl | |
| rs2141192705 | 966 | A>S | No | Ensembl | |
| rs2141192705 | 966 | A>T | No | Ensembl | |
| rs752845092 | 967 | S>I | No |
ExAC gnomAD |
|
| rs752845092 | 967 | S>N | No |
ExAC gnomAD |
|
| rs2141192657 | 967 | S>R | No | Ensembl | |
| rs752845092 | 967 | S>T | No |
ExAC gnomAD |
|
| rs2141192648 | 968 | I>F | No | Ensembl | |
| rs147795744 | 968 | I>N | No |
ESP TOPMed |
|
| rs147795744 | 968 | I>S | No |
ESP TOPMed |
|
| rs767409496 | 969 | D>A | No |
ExAC TOPMed gnomAD |
|
| rs2141192583 | 969 | D>E | No | Ensembl | |
| rs767409496 | 969 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs2141192606 | 969 | D>N | No | Ensembl | |
| rs767409496 | 969 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs1567297720 | 970 | N>K | No | Ensembl | |
| TCGA novel | 970 | N>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2141192575 | 970 | N>S | No | Ensembl | |
| rs1374436403 | 971 | R>G | No |
TOPMed gnomAD |
|
| rs373703348 | 971 | R>K | No |
ESP ExAC TOPMed |
|
| TCGA novel | 971 | R>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2141192494 | 971 | R>S | No | Ensembl | |
| rs373703348 | 971 | R>T | No |
ESP ExAC TOPMed |
|
| rs2141192447 | 972 | V>A | No | Ensembl | |
| rs2141192447 | 972 | V>D | No | Ensembl | |
|
RCV001752632 rs2141192477 |
972 | V>F | No |
ClinVar Ensembl dbSNP |
|
| rs2141192447 | 972 | V>G | No | Ensembl | |
| rs2052941393 | 973 | P>A | No | TOPMed | |
| rs2141192384 | 973 | P>H | No | Ensembl | |
| rs2141192384 | 973 | P>L | No | Ensembl | |
| rs2052941393 | 973 | P>S | No | TOPMed | |
| rs2052941393 | 973 | P>T | No | TOPMed | |
| rs1429500736 | 974 | T>I | No | gnomAD | |
| rs1429500736 | 974 | T>N | No | gnomAD | |
| rs1596882569 | 974 | T>P | No | Ensembl | |
| rs1596882569 | 974 | T>S | No | Ensembl | |
| rs1429500736 | 974 | T>S | No | gnomAD | |
| rs1395652583 | 975 | P>A | No | Ensembl | |
| rs1466424348 | 975 | P>L | No |
TOPMed gnomAD |
|
| rs1466424348 | 975 | P>R | No |
TOPMed gnomAD |
|
| rs1395652583 | 975 | P>S | No | Ensembl | |
| rs1395652583 | 975 | P>T | No | Ensembl | |
| rs1190478516 | 976 | S>C | No | TOPMed | |
| rs1190478516 | 976 | S>F | No | TOPMed | |
| COSM1734409 | 976 | S>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1190478516 | 976 | S>Y | No | TOPMed | |
| rs762582037 | 977 | S>L | No |
ExAC gnomAD |
|
| rs2141192181 | 977 | S>P | No | Ensembl | |
| rs2141192181 | 977 | S>T | No | Ensembl | |
| rs762582037 | 977 | S>W | No |
ExAC gnomAD |
|
| rs2141192098 | 978 | V>A | No | Ensembl | |
| rs2141192098 | 978 | V>E | No | Ensembl | |
| rs2141192098 | 978 | V>G | No | Ensembl | |
| rs2141192113 | 978 | V>L | No | Ensembl | |
| rs2141192113 | 978 | V>M | No | Ensembl | |
| rs2141192054 | 979 | A>P | No | Ensembl | |
| rs2141192054 | 979 | A>S | No | Ensembl | |
| rs2141192054 | 979 | A>T | No | Ensembl | |
| rs2052940527 | 980 | S>G | No | TOPMed | |
| rs2141192013 | 980 | S>N | No | Ensembl | |
| rs747875008 | 980 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs2141192013 | 980 | S>T | No | Ensembl | |
| rs1272169368 | 981 | A>E | No |
TOPMed gnomAD |
|
| rs1272169368 | 981 | A>G | No |
TOPMed gnomAD |
|
| rs61753380 | 981 | A>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs61753380 | 981 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1272169368 | 981 | A>V | No |
TOPMed gnomAD |
|
| rs2141191906 | 982 | E>* | No | Ensembl | |
| rs2141191883 | 982 | E>D | No | Ensembl | |
| rs1228378010 | 982 | E>G | No | gnomAD | |
| rs2141191906 | 982 | E>K | No | Ensembl | |
| rs2141191906 | 982 | E>Q | No | Ensembl | |
| rs1228378010 | 982 | E>V | No | gnomAD | |
| rs2141191848 | 983 | T>A | No | Ensembl | |
| rs2052939926 | 983 | T>I | No | Ensembl | |
| rs2052939926 | 983 | T>N | No | Ensembl | |
| rs2141191848 | 983 | T>P | No | Ensembl | |
| rs2141191848 | 983 | T>S | No | Ensembl | |
| rs2052939926 | 983 | T>S | No | Ensembl | |
|
COSM218493 rs140406003 |
984 | N>H | pancreas [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| rs150923988 | 984 | N>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs2141191747 | 984 | N>K | No | Ensembl | |
| rs150923988 | 984 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs150923988 | 984 | N>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs2141191710 | 985 | S>C | No | Ensembl | |
| rs2141191710 | 985 | S>F | No | Ensembl | |
| rs2141191730 | 985 | S>P | No | Ensembl | |
| rs2141191730 | 985 | S>T | No | Ensembl | |
| rs2141191710 | 985 | S>Y | No | Ensembl | |
| rs2141191658 | 986 | Q>* | No | Ensembl | |
| rs2141191658 | 986 | Q>E | No | Ensembl | |
| rs1457091449 | 986 | Q>H | No | TOPMed | |
| rs2141191658 | 986 | Q>K | No | Ensembl | |
| rs2141191622 | 987 | Q>* | No | Ensembl | |
| rs2141191622 | 987 | Q>E | No | Ensembl | |
| rs2052939438 | 987 | Q>H | No | TOPMed | |
| rs2141191607 | 987 | Q>L | No | Ensembl | |
| rs2141191557 | 988 | P>A | No | Ensembl | |
| COSM3509559 | 988 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2141191557 | 988 | P>S | No | Ensembl | |
| rs2141191557 | 988 | P>T | No | Ensembl | |
|
rs2141191526 COSM1189167 |
989 | G>* | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs2141191517 | 989 | G>E | No | Ensembl | |
| rs2141191526 | 989 | G>R | No | Ensembl | |
| rs2141191498 | 990 | P>A | No | Ensembl | |
| rs2052939281 | 990 | P>L | No | gnomAD | |
| rs2052939281 | 990 | P>R | No | gnomAD | |
| rs2141191498 | 990 | P>S | No | Ensembl | |
| rs2141191415 | 991 | D>A | No | Ensembl | |
| rs142528559 | 991 | D>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2141191415 | 991 | D>G | No | Ensembl | |
| rs2141191435 | 991 | D>H | No | Ensembl | |
| rs2141191435 | 991 | D>N | No | Ensembl | |
| rs2141191415 | 991 | D>V | No | Ensembl | |
| rs2141191435 | 991 | D>Y | No | Ensembl | |
| rs753017468 | 992 | V>A | No |
ExAC gnomAD |
|
| rs753017468 | 992 | V>E | No |
ExAC gnomAD |
|
| rs753017468 | 992 | V>G | No |
ExAC gnomAD |
|
| rs61731383 | 992 | V>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs767573846 | 993 | P>H | No |
ExAC gnomAD |
|
| rs767573846 | 993 | P>L | No |
ExAC gnomAD |
|
| rs767573846 | 993 | P>R | No |
ExAC gnomAD |
|
| TCGA novel | 993 | P>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs199757066 | 994 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs199757066 | 994 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs2141191222 | 995 | L>Q | No | Ensembl | |
| rs2141191236 | 995 | L>V | No | Ensembl | |
| rs2141191190 | 996 | E>* | No | Ensembl | |
|
rs976900349 RCV002269566 |
996 | E>G | No |
ClinVar TOPMed dbSNP |
|
| rs2141191190 | 996 | E>K | No | Ensembl | |
| rs2141191190 | 996 | E>Q | No | Ensembl | |
| rs766440192 | 997 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs2141191148 | 997 | M>L | No | Ensembl | |
| rs1436564689 | 997 | M>T | No | gnomAD | |
|
rs2141191148 RCV002223390 |
997 | M>V | No |
ClinVar Ensembl dbSNP |
|
| rs2141191098 | 998 | K>* | No | Ensembl | |
| rs2141191098 | 998 | K>E | No | Ensembl | |
| rs2141191080 | 998 | K>M | No | Ensembl | |
| rs2141191059 | 998 | K>N | No | Ensembl | |
| rs2141191080 | 998 | K>R | No | Ensembl | |
| rs763032026 | 999 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs772991403 | 999 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs763032026 | 999 | T>P | No |
ExAC TOPMed gnomAD |
|
|
TCGA novel rs763032026 |
999 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC TOPMed gnomAD |
| rs2141190990 | 1000 | E>D | No | Ensembl | |
| rs2141190998 | 1000 | E>K | No | Ensembl | |
| rs2141190998 | 1000 | E>Q | No | Ensembl | |
| rs2141190962 | 1001 | T>A | No | Ensembl | |
| rs776360894 | 1001 | T>I | No |
ExAC gnomAD |
|
| rs776360894 | 1001 | T>N | No |
ExAC gnomAD |
|
| rs2141190962 | 1001 | T>P | No | Ensembl | |
| rs2141190962 | 1001 | T>S | No | Ensembl | |
| rs776360894 | 1001 | T>S | No |
ExAC gnomAD |
|
| rs2141190893 | 1002 | Q>* | No | Ensembl | |
| rs2141190893 | 1002 | Q>E | No | Ensembl | |
| rs2052937881 | 1002 | Q>H | No | TOPMed | |
| rs2141190893 | 1002 | Q>K | No | Ensembl | |
| rs768232855 | 1003 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs2141190865 | 1003 | A>P | No | Ensembl | |
| rs2141190865 | 1003 | A>S | No | Ensembl | |
| rs768232855 | 1003 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1466058363 | 1004 | E>* | No |
TOPMed gnomAD |
|
| rs746265426 | 1004 | E>D | No | ExAC | |
| rs1596882166 | 1004 | E>G | No | Ensembl | |
| rs1466058363 | 1004 | E>K | No |
TOPMed gnomAD |
|
| rs1466058363 | 1004 | E>Q | No |
TOPMed gnomAD |
|
| rs1596882166 | 1004 | E>V | No | Ensembl | |
| rs2052937495 | 1005 | D>E | No | TOPMed | |
| rs2141190778 | 1005 | D>H | No | Ensembl | |
| rs2141190778 | 1005 | D>N | No | Ensembl | |
| rs1317506171 | 1006 | T>A | No |
TOPMed gnomAD |
|
| rs2141190720 | 1006 | T>I | No | Ensembl | |
| rs1317506171 | 1006 | T>P | No |
TOPMed gnomAD |
|
| rs1317506171 | 1006 | T>S | No |
TOPMed gnomAD |
|
| rs2141190720 | 1006 | T>S | No | Ensembl | |
| rs2141190689 | 1007 | E>* | No | Ensembl | |
| rs2141190675 | 1007 | E>G | No | Ensembl | |
| rs2141190689 | 1007 | E>K | No | Ensembl | |
| rs2141190689 | 1007 | E>Q | No | Ensembl | |
| rs2141190675 | 1007 | E>V | No | Ensembl | |
| rs2052937031 | 1008 | P>A | No | Ensembl | |
| rs2052936967 | 1008 | P>H | No |
TOPMed gnomAD |
|
| rs2052936967 | 1008 | P>L | No |
TOPMed gnomAD |
|
| rs2052936967 | 1008 | P>R | No |
TOPMed gnomAD |
|
| rs2052937031 | 1008 | P>S | No | Ensembl | |
| rs2052937031 | 1008 | P>T | No | Ensembl | |
| rs2141190537 | 1009 | D>A | No | Ensembl | |
| rs2141190523 | 1009 | D>E | No | Ensembl | |
| rs141734994 | 1009 | D>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs141734994 | 1009 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs2141190537 | 1009 | D>V | No | Ensembl | |
| rs141734994 | 1009 | D>Y | No |
ESP ExAC TOPMed gnomAD |
|
| rs1283546321 | 1010 | P>A | No | gnomAD | |
| rs139896431 | 1010 | P>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs139896431 | 1010 | P>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1283546321 | 1010 | P>S | No | gnomAD | |
| rs1283546321 | 1010 | P>T | No | gnomAD | |
| rs2141190424 | 1011 | G>A | No | Ensembl | |
| rs2141190451 | 1011 | G>C | No | Ensembl | |
| rs2141190424 | 1011 | G>D | No | Ensembl | |
| rs2141190451 | 1011 | G>R | No | Ensembl | |
| rs2141190451 | 1011 | G>S | No | Ensembl | |
| rs2141190424 | 1011 | G>V | No | Ensembl | |
| rs2141190396 | 1012 | E>A | No | Ensembl | |
| rs375938207 | 1012 | E>D | No |
ESP ExAC TOPMed gnomAD |
|
|
rs2141190412 COSM220463 |
1012 | E>K | Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2141190412 | 1012 | E>Q | No | Ensembl | |
| rs2141190396 | 1012 | E>V | No | Ensembl | |
| rs2141190354 | 1013 | S>C | No | Ensembl | |
| rs2141190354 | 1013 | S>F | No | Ensembl | |
| rs2141190354 | 1013 | S>Y | No | Ensembl | |
| rs1169315309 | 1014 | K>I | No |
TOPMed gnomAD |
|
| rs2141190315 | 1014 | K>N | No | Ensembl | |
| rs1169315309 | 1014 | K>R | No |
TOPMed gnomAD |
|
| rs2052936301 | 1015 | G>A | No | gnomAD | |
| rs2052936301 | 1015 | G>E | No | gnomAD | |
| rs2141190303 | 1015 | G>R | No | Ensembl | |
|
rs2052936301 COSM386711 |
1015 | G>V | lung [Cosmic] | No |
cosmic curated gnomAD |
| rs751808658 | 1016 | E>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2141190240 | 1016 | E>Q | No | Ensembl | |
| rs2141190229 | 1016 | E>V | No | Ensembl | |
| rs766315825 | 1017 | P>A | No |
ExAC gnomAD |
|
| rs1397683151 | 1017 | P>H | No | gnomAD | |
| rs1397683151 | 1017 | P>L | No | gnomAD | |
| rs1397683151 | 1017 | P>R | No | gnomAD | |
| rs766315825 | 1017 | P>S | No |
ExAC gnomAD |
|
| rs2141190124 | 1018 | R>K | No | 1000Genomes | |
| rs2141190124 | 1018 | R>M | No | 1000Genomes | |
| rs2141190105 | 1018 | R>S | No | Ensembl | |
| rs2141190124 | 1018 | R>T | No | 1000Genomes | |
| rs2141190094 | 1019 | S>A | No | Ensembl | |
| rs2141190075 | 1019 | S>C | No | Ensembl | |
| rs2141190075 | 1019 | S>F | No | Ensembl | |
| rs2141190094 | 1019 | S>T | No | Ensembl | |
| rs2141190001 | 1020 | E>D | No | Ensembl | |
|
rs2141190025 COSM1377852 |
1020 | E>G | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs1596882010 | 1020 | E>K | No | Ensembl | |
| rs1596882010 | 1020 | E>Q | No | Ensembl | |
| rs780436464 | 1021 | M>I | No |
ExAC gnomAD |
|
| rs1434775164 | 1021 | M>K | No | gnomAD | |
| rs557861049 | 1021 | M>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1434775164 | 1021 | M>R | No | gnomAD | |
| rs557861049 | 1021 | M>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2141183906 | 1022 | M>I | No | Ensembl | |
| rs376935735 | 1022 | M>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs2141183948 | 1022 | M>L | No | Ensembl | |
| rs376935735 | 1022 | M>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs376935735 | 1022 | M>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs2141183948 | 1022 | M>V | No | Ensembl | |
| rs2141183877 | 1023 | E>* | No | Ensembl | |
| rs2141183848 | 1023 | E>D | No | Ensembl | |
| rs2141183877 | 1023 | E>K | No | Ensembl | |
| rs2141183877 | 1023 | E>Q | No | Ensembl | |
| rs1408928400 | 1023 | E>V | No | gnomAD | |
| rs2141183828 | 1024 | E>* | No | Ensembl | |
|
TCGA novel rs2141183797 |
1024 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs745704873 | 1024 | E>G | No | ExAC | |
| rs2141183828 | 1024 | E>K | No | Ensembl | |
| rs2141183828 | 1024 | E>Q | No | Ensembl | |
| rs745704873 | 1024 | E>V | No | ExAC | |
| rs778610355 | 1025 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs2141183780 | 1025 | D>H | No | Ensembl | |
| rs2141183780 | 1025 | D>N | No | Ensembl | |
| rs778610355 | 1025 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs2141183780 | 1025 | D>Y | No | Ensembl | |
| rs1358752582 | 1026 | L>* | No |
TOPMed gnomAD |
|
| rs2141183751 | 1026 | L>M | No | Ensembl | |
| rs1358752582 | 1026 | L>S | No |
TOPMed gnomAD |
|
| rs2141183751 | 1026 | L>V | No | Ensembl | |
| rs1358752582 | 1026 | L>W | No |
TOPMed gnomAD |
|
| rs2141183714 | 1027 | Q>* | No | Ensembl | |
| rs2141183714 | 1027 | Q>E | No | Ensembl | |
| rs368183803 | 1027 | Q>H | No | gnomAD | |
| rs2141183714 | 1027 | Q>K | No | Ensembl | |
| rs2141183706 | 1027 | Q>L | No | Ensembl | |
| rs2141183706 | 1027 | Q>R | No | Ensembl | |
| rs2141183664 | 1028 | G>* | No | Ensembl | |
| rs2141183647 | 1028 | G>A | No | Ensembl | |
|
rs2141183647 TCGA novel |
1028 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2141183664 | 1028 | G>R | No | Ensembl | |
| rs2141183647 | 1028 | G>V | No | Ensembl | |
| rs2052895952 | 1029 | A>D | No | TOPMed | |
| rs2052895952 | 1029 | A>G | No | TOPMed | |
| rs2141183613 | 1029 | A>T | No | Ensembl | |
| rs2052895952 | 1029 | A>V | No | TOPMed | |
| rs2141183556 | 1030 | S>T | No | Ensembl | |
| rs2052895734 | 1031 | Q>H | No |
TOPMed gnomAD |
|
| rs2141183493 | 1031 | Q>R | No | Ensembl | |
| rs2141183432 | 1032 | V>A | No | Ensembl | |
| rs2141183432 | 1032 | V>D | No | Ensembl | |
| rs2052895665 | 1032 | V>F | No | Ensembl | |
| rs2141183432 | 1032 | V>G | No | Ensembl | |
| rs2052895665 | 1032 | V>I | No | Ensembl | |
| rs2052895665 | 1032 | V>L | No | Ensembl | |
| rs2141183385 | 1033 | K>I | No | Ensembl | |
| rs753827274 | 1033 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs2141183385 | 1033 | K>R | No | Ensembl | |
| rs2141183348 | 1034 | E>G | No | Ensembl | |
| rs2141183362 | 1034 | E>K | No | Ensembl | |
| rs2141183362 | 1034 | E>Q | No | Ensembl | |
| rs2141183348 | 1034 | E>V | No | Ensembl | |
| rs2141183322 | 1035 | E>* | No | Ensembl | |
| rs2141183322 | 1035 | E>K | No | Ensembl | |
| rs2141183322 | 1035 | E>Q | No | Ensembl | |
| rs2141183310 | 1035 | E>V | No | Ensembl | |
| rs2141183272 | 1036 | T>A | No | Ensembl | |
| rs2141183272 | 1036 | T>P | No | Ensembl | |
| rs2141183272 | 1036 | T>S | No | Ensembl | |
| rs2141183211 | 1037 | D>E | No | Ensembl | |
| rs755638291 | 1037 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs777678749 | 1037 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs777678749 | 1037 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs777678749 | 1037 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs767191742 | 1038 | I>K | No |
ExAC gnomAD |
|
| rs1232263439 | 1038 | I>L | No | TOPMed | |
|
COSM970588 rs1300594483 |
1038 | I>M | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
| rs767191742 | 1038 | I>R | No |
ExAC gnomAD |
|
| rs767191742 | 1038 | I>T | No |
ExAC gnomAD |
|
| rs1432745439 | 1039 | A>E | No | gnomAD | |
| rs1432745439 | 1039 | A>G | No | gnomAD | |
| rs2141183145 | 1039 | A>P | No | Ensembl | |
| rs2141183145 | 1039 | A>S | No | Ensembl | |
| rs2141183145 | 1039 | A>T | No | Ensembl | |
| rs1432745439 | 1039 | A>V | No | gnomAD | |
| rs2052894830 | 1040 | E>* | No | TOPMed | |
| rs2141183054 | 1040 | E>D | No | Ensembl | |
| rs2052894830 | 1040 | E>K | No | TOPMed | |
| rs2052894830 | 1040 | E>Q | No | TOPMed | |
| rs2141183067 | 1040 | E>V | No | Ensembl | |
| rs2141183036 | 1041 | Q>* | No | Ensembl | |
| rs2141183036 | 1041 | Q>E | No | Ensembl | |
| rs2141182999 | 1041 | Q>H | No | Ensembl | |
| rs2141183036 | 1041 | Q>K | No | Ensembl | |
| rs1215871211 | 1041 | Q>L | No | gnomAD | |
| rs1215871211 | 1041 | Q>P | No | gnomAD | |
| rs2141182978 | 1042 | K>* | No | Ensembl | |
| rs2141182967 | 1042 | K>N | No | Ensembl | |
| rs61731376 | 1043 | S>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2141182912 | 1044 | E>* | No | Ensembl | |
| rs2141182894 | 1044 | E>D | No | Ensembl | |
| rs2141182912 | 1044 | E>K | No | Ensembl | |
| TCGA novel | 1044 | E>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2141182912 | 1044 | E>Q | No | Ensembl | |
| rs2141182897 | 1044 | E>V | No | Ensembl | |
| rs2141182872 | 1045 | P>A | No | Ensembl | |
| rs1229820276 | 1045 | P>L | No |
TOPMed gnomAD |
|
| rs1229820276 | 1045 | P>Q | No |
TOPMed gnomAD |
|
| rs1229820276 | 1045 | P>R | No |
TOPMed gnomAD |
|
| rs2141182872 | 1045 | P>S | No | Ensembl | |
| rs2141182872 | 1045 | P>T | No | Ensembl | |
| rs2141182789 | 1046 | M>I | No | Ensembl | |
| rs2141182812 | 1046 | M>K | No | Ensembl | |
| rs2141182812 | 1046 | M>R | No | Ensembl | |
| rs896266657 | 1046 | M>V | No |
TOPMed gnomAD |
|
| rs751204113 | 1047 | E>* | No |
ExAC gnomAD |
|
| rs2141182762 | 1047 | E>D | No | Ensembl | |
| rs751204113 | 1047 | E>K | No |
ExAC gnomAD |
|
| rs751204113 | 1047 | E>Q | No |
ExAC gnomAD |
|
| rs2141182735 | 1048 | V>E | No | Ensembl | |
| rs2141182735 | 1048 | V>G | No | Ensembl | |
|
rs1210983463 RCV000731972 |
1048 | V>L | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1210983463 | 1048 | V>M | No |
TOPMed gnomAD |
|
| rs551563285 | 1049 | D>E | No | Ensembl | |
| rs975896932 | 1049 | D>G | No | TOPMed | |
| rs919137377 | 1049 | D>H | No | TOPMed | |
| rs919137377 | 1049 | D>N | No | TOPMed | |
| rs919137377 | 1049 | D>Y | No | TOPMed | |
|
rs2141182636 COSM3988470 |
1050 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs765578870 | 1050 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs2141182636 | 1050 | E>K | No | Ensembl | |
| rs2141182636 | 1050 | E>Q | No | Ensembl | |
| rs2141182617 | 1051 | K>R | No | Ensembl | |
| rs2141182599 | 1052 | K>* | No | Ensembl | |
| rs2141182599 | 1052 | K>E | No | Ensembl | |
| rs1276091062 | 1052 | K>N | No | gnomAD | |
| rs200424021 | 1053 | P>A | No |
1000Genomes ExAC gnomAD |
|
|
COSM1377851 rs142008620 |
1053 | P>H | large_intestine [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs142008620 | 1053 | P>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs200424021 | 1053 | P>S | No |
1000Genomes ExAC gnomAD |
|
| rs200424021 | 1053 | P>T | No |
1000Genomes ExAC gnomAD |
|
| rs2141182493 | 1054 | E>* | No | Ensembl | |
| rs1279208250 | 1054 | E>D | No | gnomAD | |
| rs138823476 | 1054 | E>G | No |
ESP TOPMed |
|
| rs2141182493 | 1054 | E>K | No | Ensembl | |
| rs2141182493 | 1054 | E>Q | No | Ensembl | |
| rs138823476 | 1054 | E>V | No |
ESP TOPMed |
|
| rs2141182431 | 1055 | V>E | No | Ensembl | |
| rs2141182431 | 1055 | V>G | No | Ensembl | |
| rs2141182449 | 1055 | V>L | No | Ensembl | |
| rs2141182449 | 1055 | V>M | No | Ensembl | |
|
RCV001754081 rs2141182404 |
1056 | K>E | No |
ClinVar Ensembl dbSNP |
|
| rs2141182396 | 1056 | K>I | No | Ensembl | |
| rs2141182358 | 1057 | V>A | No | Ensembl | |
| rs2141182358 | 1057 | V>E | No | Ensembl | |
| rs2141182358 | 1057 | V>G | No | Ensembl | |
| rs2141182375 | 1057 | V>I | No | Ensembl | |
| rs2141182375 | 1057 | V>L | No | Ensembl | |
| COSM4852995 | 1058 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs760858956 | 1058 | E>D | No |
ExAC gnomAD |
|
| rs2141182343 | 1058 | E>K | No | Ensembl | |
| rs2141182343 | 1058 | E>Q | No | Ensembl | |
| rs2141182332 | 1058 | E>V | No | Ensembl | |
| rs2141182275 | 1059 | V>D | No | Ensembl | |
| rs2141182295 | 1059 | V>F | No | Ensembl | |
| rs2141182275 | 1059 | V>G | No | Ensembl | |
| rs2141182295 | 1059 | V>I | No | Ensembl | |
| rs2141182295 | 1059 | V>L | No | Ensembl | |
|
RCV001774696 rs2141182129 |
1059 | V>missing | No |
ClinVar dbSNP |
|
| rs2052893196 | 1060 | K>* | No | TOPMed | |
| rs2052893196 | 1060 | K>E | No | TOPMed | |
| rs2141182228 | 1060 | K>N | No | Ensembl | |
| TCGA novel | 1060 | K>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2141182198 | 1061 | E>* | No | Ensembl | |
| rs2141182173 | 1061 | E>D | No | Ensembl | |
| rs2141182198 | 1061 | E>Q | No | Ensembl | |
| rs2141182152 | 1062 | E>* | No | Ensembl | |
| rs769480318 | 1062 | E>D | No | Ensembl | |
| TCGA novel | 1062 | E>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2141182152 | 1062 | E>K | No | Ensembl | |
| rs2141182152 | 1062 | E>Q | No | Ensembl | |
| rs2141182104 | 1063 | E>* | No | Ensembl | |
| rs868443992 | 1063 | E>A | No | Ensembl | |
| rs2141182104 | 1063 | E>K | No | Ensembl | |
| rs2141182104 | 1063 | E>Q | No | Ensembl | |
| rs886041006 | 1064 | E>* | No | Ensembl | |
|
RCV000479856 CA16620206 rs1064794818 |
1064 | E>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2141182060 | 1064 | E>G | No | Ensembl | |
| rs886041006 | 1064 | E>Q | No | Ensembl | |
| rs2141182032 | 1065 | S>C | No | Ensembl | |
| rs2052892651 | 1065 | S>I | No | TOPMed | |
| rs2052892651 | 1065 | S>N | No | TOPMed | |
| rs2141182003 | 1065 | S>R | No | Ensembl | |
| rs2052892651 | 1065 | S>T | No | TOPMed | |
| rs2141181983 | 1066 | S>C | No | Ensembl | |
| rs2141181983 | 1066 | S>G | No | Ensembl | |
| rs2052892570 | 1066 | S>I | No | Ensembl | |
| rs2052892570 | 1066 | S>N | No | Ensembl | |
| rs2052892484 | 1066 | S>R | No | Ensembl | |
| rs2052892570 | 1066 | S>T | No | Ensembl | |
|
RCV000120595 rs587778210 CA158174 |
1067 | S>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1315293522 | 1067 | S>I | No |
TOPMed gnomAD |
|
| rs1315293522 | 1067 | S>N | No |
TOPMed gnomAD |
|
| rs999186240 | 1067 | S>R | No | Ensembl | |
| rs1315293522 | 1067 | S>T | No |
TOPMed gnomAD |
|
| rs2141181871 | 1068 | N>D | No | Ensembl | |
| rs2141181871 | 1068 | N>H | No | Ensembl | |
| rs2052892126 | 1068 | N>I | No | gnomAD | |
| rs150189749 | 1068 | N>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs2052892126 | 1068 | N>S | No | gnomAD | |
| rs2052892126 | 1068 | N>T | No | gnomAD | |
| rs2141181871 | 1068 | N>Y | No | Ensembl | |
| rs746263232 | 1069 | G>A | No |
TOPMed gnomAD |
|
|
COSM557988 rs746263232 |
1069 | G>D | lung [Cosmic] | No |
cosmic curated TOPMed gnomAD |
|
rs555109138 COSM1743091 |
1069 | G>R | biliary_tract [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| rs555109138 | 1069 | G>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs746263232 | 1069 | G>V | No |
TOPMed gnomAD |
|
| rs2052891694 | 1070 | T>A | No |
TOPMed gnomAD |
|
| rs2141181729 | 1070 | T>I | No | Ensembl | |
| rs2052891694 | 1070 | T>P | No |
TOPMed gnomAD |
|
| rs2141181729 | 1070 | T>R | No | Ensembl | |
| rs2052891694 | 1070 | T>S | No |
TOPMed gnomAD |
|
| rs2141181690 | 1071 | A>G | No | Ensembl | |
|
COSM96416 rs1041960106 |
1071 | A>T | ovary [Cosmic] | No |
cosmic curated TOPMed |
| rs2141181690 | 1071 | A>V | No | Ensembl | |
| rs947598568 | 1072 | S>A | No |
TOPMed gnomAD |
|
| rs2141181635 | 1072 | S>C | No | Ensembl | |
| rs2141181635 | 1072 | S>F | No | Ensembl | |
| rs947598568 | 1072 | S>P | No |
TOPMed gnomAD |
|
| rs947598568 | 1072 | S>T | No |
TOPMed gnomAD |
|
| rs2141181608 | 1073 | Q>E | No | Ensembl | |
| rs2052891462 | 1073 | Q>H | No | Ensembl | |
|
COSM417009 rs1397325627 |
1074 | S>* | Variant assessed as Somatic; HIGH impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed gnomAD |
| rs1397325627 | 1074 | S>L | No |
TOPMed gnomAD |
|
| rs2141181580 | 1074 | S>P | No | Ensembl | |
| rs2141181580 | 1074 | S>T | No | Ensembl | |
| rs774615320 | 1075 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs893310517 | 1075 | T>I | No | gnomAD | |
| rs774615320 | 1075 | T>P | No |
ExAC TOPMed gnomAD |
|
| rs774615320 | 1075 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs1476678901 | 1076 | S>C | No |
TOPMed gnomAD |
|
| rs2141181496 | 1076 | S>P | No | Ensembl | |
| rs2141181435 | 1077 | P>A | No | Ensembl | |
| rs770693450 | 1077 | P>L | No |
ExAC gnomAD |
|
| rs770693450 | 1077 | P>R | No |
ExAC gnomAD |
|
| rs2141181435 | 1077 | P>S | No | Ensembl | |
| rs2141181435 | 1077 | P>T | No | Ensembl | |
| rs942848385 | 1078 | S>* | No |
TOPMed gnomAD |
|
| rs749028913 | 1078 | S>P | No |
ExAC TOPMed gnomAD |
|
| rs749028913 | 1078 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs942848385 | 1078 | S>W | No |
TOPMed gnomAD |
|
| rs2141181339 | 1079 | Q>* | No | Ensembl | |
| TCGA novel | 1079 | Q>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2141181339 | 1079 | Q>E | No | Ensembl | |
|
rs1235208409 COSM88733 |
1079 | Q>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated gnomAD |
| rs2141181321 | 1079 | Q>L | No | Ensembl | |
|
rs2141181321 COSM1563117 |
1079 | Q>R | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs373586649 | 1080 | P>A | No |
ESP TOPMed gnomAD |
|
| rs777713620 | 1080 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs777713620 | 1080 | P>R | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1080 | P>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs373586649 | 1080 | P>S | No |
ESP TOPMed gnomAD |
|
| rs373586649 | 1080 | P>T | No |
ESP TOPMed gnomAD |
|
| rs748049805 | 1081 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs748049805 | 1081 | R>G | No |
ExAC TOPMed gnomAD |
|
|
COSM213966 rs780618828 |
1081 | R>H | breast [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs780618828 | 1081 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs748049805 | 1081 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs2141181187 | 1082 | K>* | No | Ensembl | |
| rs2141181171 | 1082 | K>I | No | Ensembl | |
| rs536144514 | 1083 | K>* | No |
1000Genomes ExAC gnomAD |
|
| rs536144514 | 1083 | K>E | No |
1000Genomes ExAC gnomAD |
|
| rs536144514 | 1083 | K>Q | No |
1000Genomes ExAC gnomAD |
|
| rs2141181138 | 1083 | K>R | No | Ensembl | |
| rs751237748 | 1084 | I>F | No |
ExAC gnomAD |
|
| COSM2920000 | 1084 | I>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1378599948 COSM1180829 |
1084 | I>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs751237748 | 1084 | I>V | No |
ExAC gnomAD |
|
| rs2151385804 | 1088 | E>* | No | Ensembl | |
| rs2052647282 | 1089 | E>Q | No | TOPMed | |
|
COSM1478868 rs781584671 |
1091 | R>C | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC gnomAD |
| rs781584671 | 1091 | R>G | No |
ExAC gnomAD |
|
| rs2151385778 | 1091 | R>L | No | Ensembl | |
| TCGA novel | 1093 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151385772 | 1093 | A>V | No | Ensembl | |
| rs1203748949 | 1094 | L>I | No | TOPMed | |
| rs2151385749 | 1095 | M>I | No | Ensembl | |
| rs1367434316 | 1095 | M>L | No | Ensembl | |
| rs1041725492 | 1096 | P>L | No | gnomAD | |
| rs1041725492 | 1096 | P>Q | No | gnomAD | |
| rs2151385744 | 1096 | P>S | No | Ensembl | |
| rs2151385727 | 1097 | T>I | No | Ensembl | |
| rs755553309 | 1098 | L>I | No |
ExAC TOPMed gnomAD |
|
| rs766505219 | 1101 | L>V | No |
ExAC TOPMed gnomAD |
|
| COSM1640478 | 1102 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM5136933 rs2151385663 |
1103 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2052646527 | 1103 | R>Q | No | gnomAD | |
| COSM2919997 | 1108 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1596856319 | 1109 | L>F | No | Ensembl | |
| COSM3509557 | 1110 | P>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs765386995 | 1111 | F>L | No |
ExAC gnomAD |
|
| rs2151385599 | 1112 | R>L | No | Ensembl | |
| rs2151385599 | 1112 | R>Q | No | Ensembl | |
|
COSM212243 rs896316073 |
1112 | R>W | breast [Cosmic] | No |
cosmic curated TOPMed gnomAD |
|
RCV000081048 CA222692 rs398124144 |
1113 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1057520072 CA16603188 RCV000435770 |
1114 | P>missing | No |
ClinGen ClinVar dbSNP |
|
| rs2151385570 | 1115 | V>I | No | Ensembl | |
| rs2151385558 | 1117 | P>A | No | Ensembl | |
| TCGA novel | 1118 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001200400 rs2052645597 |
1118 | Q>H | No |
ClinVar Ensembl dbSNP |
|
| rs2151385545 | 1120 | L>F | No | Ensembl | |
| rs2151385543 | 1120 | L>H | No | Ensembl | |
| rs866498372 | 1121 | G>R | No | Ensembl | |
| TCGA novel | 1122 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1122 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151384162 | 1124 | D>E | No | Ensembl | |
| rs2151384179 | 1124 | D>H | No | Ensembl | |
| rs2151384179 | 1124 | D>N | No | Ensembl | |
| rs1327267611 | 1124 | D>V | No | gnomAD | |
| rs2151384179 | 1124 | D>Y | No | Ensembl | |
|
COSM88764 rs2151384150 |
1125 | Y>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
| rs1392099443 | 1125 | Y>F | No | gnomAD | |
| rs2151384158 | 1125 | Y>N | No | Ensembl | |
| rs2151384145 | 1126 | F>Y | No | Ensembl | |
| rs2151384124 | 1127 | D>E | No | Ensembl | |
| rs2151384129 | 1127 | D>G | No | Ensembl | |
| rs2151384136 | 1127 | D>N | No | Ensembl | |
| rs2151384129 | 1127 | D>V | No | Ensembl | |
| rs2151384136 | 1127 | D>Y | No | Ensembl | |
| rs2052627417 | 1128 | I>F | No | TOPMed | |
| rs759136399 | 1128 | I>M | No |
ExAC gnomAD |
|
| rs2052627417 | 1128 | I>V | No | TOPMed | |
| rs2151384094 | 1129 | V>E | No | Ensembl | |
| rs2151384094 | 1129 | V>G | No | Ensembl | |
| rs774047746 | 1129 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs2151384076 | 1130 | K>* | No | Ensembl | |
| rs2151384076 | 1130 | K>Q | No | Ensembl | |
|
CA394569104 rs1131691779 RCV000492912 |
1131 | N>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2151384051 | 1131 | N>T | No | Ensembl | |
| rs2151384060 | 1131 | N>Y | No | Ensembl | |
| rs2151384028 | 1132 | P>A | No | Ensembl | |
| rs2151384014 | 1132 | P>H | No | Ensembl | |
| rs2151384014 | 1132 | P>L | No | Ensembl | |
| rs2151384014 | 1132 | P>R | No | Ensembl | |
|
COSM1708693 rs2151384028 |
1132 | P>S | skin [Cosmic] | No |
cosmic curated Ensembl |
| rs2151384028 | 1132 | P>T | No | Ensembl | |
| rs1177399598 | 1133 | M>I | No | TOPMed | |
| rs2151384001 | 1133 | M>K | No | Ensembl | |
| rs2151384001 | 1133 | M>T | No | Ensembl | |
| rs926079535 | 1134 | D>E | No | TOPMed | |
| rs2151383971 | 1134 | D>H | No | Ensembl | |
| rs2151383971 | 1134 | D>N | No | Ensembl | |
| rs2151383971 | 1134 | D>Y | No | Ensembl | |
| rs2151383951 | 1135 | L>F | No | Ensembl | |
| rs2151383946 | 1135 | L>H | No | Ensembl | |
| rs2151383946 | 1135 | L>P | No | Ensembl | |
| rs2151383937 | 1136 | S>C | No | Ensembl | |
| rs2151383937 | 1136 | S>F | No | Ensembl | |
| rs2151383937 | 1136 | S>Y | No | Ensembl | |
| rs375416112 | 1137 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs375416112 | 1137 | T>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs375416112 | 1137 | T>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151383919 | 1137 | T>S | No | Ensembl | |
| rs2151383872 | 1138 | I>M | No | Ensembl | |
| rs2151383881 | 1138 | I>N | No | Ensembl | |
| rs2151383881 | 1138 | I>S | No | Ensembl | |
| rs2151383868 | 1139 | K>* | No | Ensembl | |
| COSM4060711 | 1139 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs769071829 | 1139 | K>M | No |
ExAC gnomAD |
|
| rs2151383851 | 1139 | K>N | No | Ensembl | |
| rs769071829 | 1139 | K>R | No |
ExAC gnomAD |
|
| rs2151383835 | 1140 | R>G | No | Ensembl | |
| rs2151383826 | 1140 | R>P | No | Ensembl | |
|
rs2151383826 COSM703030 |
1140 | R>Q | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2151383835 | 1140 | R>W | No | Ensembl | |
| rs2151383814 | 1141 | K>E | No | Ensembl | |
| rs747279687 | 1141 | K>N | No |
ExAC gnomAD |
|
| rs2151383792 | 1142 | L>Q | No | Ensembl | |
| rs2151383801 | 1142 | L>V | No | Ensembl | |
| rs2151383758 | 1143 | D>A | No | Ensembl | |
| rs2151383749 | 1143 | D>E | No | Ensembl | |
| rs2151383758 | 1143 | D>G | No | Ensembl | |
|
COSM1301958 rs2151383777 |
1143 | D>H | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2151383777 | 1143 | D>N | No | Ensembl | |
| rs2151383758 | 1143 | D>V | No | Ensembl | |
| rs2151383777 | 1143 | D>Y | No | Ensembl | |
| rs2151383739 | 1144 | T>R | No | Ensembl | |
| rs2151383746 | 1144 | T>S | No | Ensembl | |
| rs2151383715 | 1145 | G>R | No | Ensembl | |
| rs2151383715 | 1145 | G>W | No | Ensembl | |
| rs1245690344 | 1147 | Y>* | No |
TOPMed gnomAD |
|
| rs2052626351 | 1147 | Y>C | No | Ensembl | |
| rs2052626351 | 1147 | Y>F | No | Ensembl | |
| rs2151383699 | 1147 | Y>N | No | Ensembl | |
| rs2151383653 | 1149 | E>D | No | Ensembl | |
| rs141855873 | 1149 | E>K | No | ESP | |
| rs141855873 | 1149 | E>Q | No | ESP | |
| rs758861287 | 1150 | P>A | No |
ExAC gnomAD |
|
| rs2151383628 | 1150 | P>R | No | Ensembl | |
| rs758861287 | 1150 | P>S | No |
ExAC gnomAD |
|
| rs533778365 | 1151 | W>* | No |
1000Genomes ExAC gnomAD |
|
| rs2151383606 | 1151 | W>* | No | Ensembl | |
| rs533778365 | 1151 | W>C | No |
1000Genomes ExAC gnomAD |
|
|
rs2151383606 COSM346449 |
1151 | W>L | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs1309339365 | 1151 | W>R | No | gnomAD | |
| rs2151383606 | 1151 | W>S | No | Ensembl | |
|
COSM417010 rs1374209600 |
1152 | Q>* | Variant assessed as Somatic; HIGH impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated gnomAD |
| rs1374209600 | 1152 | Q>E | No | gnomAD | |
| rs757269019 | 1152 | Q>H | No |
ExAC gnomAD |
|
| rs2052625693 | 1152 | Q>P | No | gnomAD | |
| rs2052625693 | 1152 | Q>R | No | gnomAD | |
| rs754153611 | 1153 | Y>* | No |
ExAC TOPMed gnomAD |
|
| rs2151383546 | 1154 | V>E | No | Ensembl | |
| rs2151383554 | 1154 | V>L | No | Ensembl | |
| rs2151383554 | 1154 | V>M | No | Ensembl | |
| rs1447337021 | 1155 | D>E | No | gnomAD | |
| rs764153035 | 1155 | D>G | No |
ExAC gnomAD |
|
| rs764153035 | 1155 | D>V | No |
ExAC gnomAD |
|
| rs752487134 | 1156 | D>E | No |
ExAC gnomAD |
|
| rs755945995 | 1156 | D>H | No |
ExAC gnomAD |
|
| rs755945995 | 1156 | D>N | No |
ExAC gnomAD |
|
| rs755945995 | 1156 | D>Y | No |
ExAC gnomAD |
|
| rs2151383495 | 1157 | V>D | No | Ensembl | |
| rs759599590 | 1157 | V>F | No |
ExAC TOPMed gnomAD |
|
| rs759599590 | 1157 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs759599590 | 1157 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs2052624971 | 1158 | W>* | No | TOPMed | |
| rs2151383473 | 1158 | W>* | No | Ensembl | |
| rs2052624971 | 1158 | W>C | No | TOPMed | |
| rs2052625027 | 1158 | W>R | No | gnomAD | |
| rs2151383456 | 1159 | L>H | No | Ensembl | |
| rs2151383462 | 1159 | L>V | No | Ensembl | |
| rs1407773191 | 1162 | N>D | No |
TOPMed gnomAD |
|
| rs1419102527 | 1163 | N>D | No | gnomAD | |
| rs2151383402 | 1164 | A>G | No | Ensembl | |
|
rs797045492 TCGA novel |
1164 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2151383402 | 1164 | A>V | No | Ensembl | |
| rs2151383394 | 1165 | W>* | No | Ensembl | |
| rs2151383394 | 1165 | W>C | No | Ensembl | |
| COSM1377846 | 1165 | W>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1377845 rs2151383371 |
1169 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
|
rs2151383365 COSM2919990 |
1169 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2151383371 | 1169 | R>S | No | Ensembl | |
| rs772932627 | 1170 | K>N | No |
ExAC gnomAD |
|
| COSM3988469 | 1171 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2151383351 | 1172 | S>Y | No | Ensembl | |
|
rs2151383341 COSM88760 |
1173 | R>* | large_intestine urinary_tract haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
| rs2151383336 | 1173 | R>Q | No | Ensembl | |
| rs2052623880 | 1177 | F>L | No | Ensembl | |
| rs2151383322 | 1178 | C>F | No | Ensembl | |
| rs1489229376 | 1179 | S>I | No | gnomAD | |
| rs1489229376 | 1179 | S>N | No | gnomAD | |
| rs1489229376 | 1179 | S>T | No | gnomAD | |
| rs1286572314 | 1180 | K>N | No | gnomAD | |
| rs2151383285 | 1182 | A>V | No | Ensembl | |
| rs1275947385 | 1184 | V>I | No |
TOPMed gnomAD |
|
| rs1275947385 | 1184 | V>L | No |
TOPMed gnomAD |
|
| rs2151383258 | 1185 | F>I | No | Ensembl | |
| rs2151383241 | 1186 | E>Q | No | Ensembl | |
|
rs1311122629 RCV000735051 |
1187 | Q>E | No |
ClinVar TOPMed dbSNP |
|
| rs2052623279 | 1187 | Q>R | No | TOPMed | |
| rs2151383227 | 1188 | E>* | No | Ensembl | |
| rs2151383219 | 1189 | I>F | No | Ensembl | |
| rs747407307 | 1189 | I>T | No |
ExAC gnomAD |
|
| rs2151383193 | 1191 | P>A | No | Ensembl | |
| rs1465070211 | 1191 | P>R | No | gnomAD | |
| rs2151383193 | 1191 | P>S | No | Ensembl | |
| rs2151383169 | 1192 | V>D | No | Ensembl | |
| rs2052622981 | 1192 | V>I | No | TOPMed | |
| rs2151383146 | 1193 | M>I | No | Ensembl | |
| rs1207687035 | 1193 | M>L | No |
TOPMed gnomAD |
|
| rs2151383141 | 1194 | Q>* | No | Ensembl | |
| rs1481864759 | 1194 | Q>H | No | TOPMed | |
| rs772403251 | 1194 | Q>R | No |
ExAC gnomAD |
|
| rs2151383127 | 1195 | S>C | No | Ensembl | |
| rs1478665870 | 1197 | G>A | No |
TOPMed gnomAD |
|
| TCGA novel | 1197 | G>D | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1478665870 | 1197 | G>E | No |
TOPMed gnomAD |
|
|
RCV001774722 rs2052622487 |
1197 | G>R | No |
ClinVar Ensembl dbSNP |
|
| rs1478665870 | 1197 | G>V | No |
TOPMed gnomAD |
|
| rs2151383092 | 1198 | Y>F | No | Ensembl | |
| rs2151383080 | 1199 | C>F | No | Ensembl | |
| rs2151383080 | 1199 | C>Y | No | Ensembl | |
|
rs2151383056 COSM3764561 |
1200 | C>Y | central_nervous_system [Cosmic] | No |
cosmic curated Ensembl |
| rs2151383051 | 1201 | G>A | No | Ensembl | |
| rs2052622140 | 1202 | R>C | No | gnomAD | |
| rs2052622140 | 1202 | R>G | No | gnomAD | |
| rs55867523 | 1202 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs200346970 | 1204 | Y>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs1169940443 | 1204 | Y>H | No |
TOPMed gnomAD |
|
| rs1169940443 | 1204 | Y>N | No |
TOPMed gnomAD |
|
| rs759826090 | 1205 | E>D | No |
ExAC gnomAD |
|
| rs587783482 | 1205 | E>Q | No | Ensembl | |
| rs2151382140 | 1205 | E>V | No | Ensembl | |
| rs2151382134 | 1206 | F>I | No | Ensembl | |
| rs2151382128 | 1206 | F>S | No | Ensembl | |
| rs2151382124 | 1207 | S>P | No | Ensembl | |
| rs1029052355 | 1208 | P>A | No | TOPMed | |
| rs2151382102 | 1208 | P>L | No | Ensembl | |
| rs2151382102 | 1208 | P>R | No | Ensembl | |
| rs1029052355 | 1208 | P>S | No | TOPMed | |
| rs1596852578 | 1209 | Q>E | No | Ensembl | |
| rs1240905850 | 1209 | Q>H | No | gnomAD | |
| rs2151382090 | 1209 | Q>L | No | Ensembl | |
| rs1200092189 | 1210 | T>A | No | gnomAD | |
| rs866432725 | 1210 | T>I | No | TOPMed | |
| rs1200092189 | 1210 | T>S | No | gnomAD | |
| rs866432725 | 1210 | T>S | No | TOPMed | |
| rs367923133 | 1211 | L>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151382050 | 1212 | C>F | No | Ensembl | |
| rs2151382057 | 1212 | C>G | No | Ensembl | |
| rs2151382050 | 1212 | C>S | No | Ensembl | |
| rs2151382057 | 1212 | C>S | No | Ensembl | |
| rs2151382042 | 1212 | C>W | No | Ensembl | |
| rs2151382031 | 1213 | C>F | No | Ensembl | |
| rs2151382031 | 1213 | C>S | No | Ensembl | |
| rs904796024 | 1213 | C>W | No |
TOPMed gnomAD |
|
| rs2151382031 | 1213 | C>Y | No | Ensembl | |
| rs2151382012 | 1214 | Y>* | No | Ensembl | |
| rs1272691121 | 1214 | Y>F | No |
TOPMed gnomAD |
|
| rs1272691121 | 1214 | Y>S | No |
TOPMed gnomAD |
|
| rs2151381992 | 1215 | G>A | No | Ensembl | |
| rs2151381992 | 1215 | G>E | No | Ensembl | |
| rs2151382002 | 1215 | G>R | No | Ensembl | |
| rs2151381992 | 1215 | G>V | No | Ensembl | |
| TCGA novel | 1215 | G>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151381982 | 1216 | K>M | No | Ensembl | |
| rs1164145410 | 1216 | K>N | No | gnomAD | |
| rs2151381966 | 1217 | Q>* | No | Ensembl | |
| rs2151381966 | 1217 | Q>E | No | Ensembl | |
| rs2151381955 | 1217 | Q>H | No | Ensembl | |
| rs2151381961 | 1217 | Q>L | No | Ensembl | |
| TCGA novel | 1218 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151381936 | 1218 | L>Q | No | Ensembl | |
| rs1269387406 | 1218 | L>V | No | TOPMed | |
| rs2052610257 | 1219 | C>* | No | gnomAD | |
| rs2151381926 | 1219 | C>G | No | Ensembl | |
| rs2151381923 | 1219 | C>S | No | Ensembl | |
| rs2151381926 | 1219 | C>S | No | Ensembl | |
| rs2052610182 | 1220 | T>A | No | Ensembl | |
| rs2052610182 | 1220 | T>P | No | Ensembl | |
| rs2052610182 | 1220 | T>S | No | Ensembl | |
| rs2151381894 | 1221 | I>N | No | Ensembl | |
| rs2151381894 | 1221 | I>T | No | Ensembl | |
| rs2151381879 | 1222 | P>A | No | Ensembl | |
| rs2151381871 | 1222 | P>H | No | Ensembl | |
| rs2151381871 | 1222 | P>L | No | Ensembl | |
| rs2151381879 | 1222 | P>S | No | Ensembl | |
| rs1306274833 | 1223 | R>C | No | gnomAD | |
| rs1306274833 | 1223 | R>G | No | gnomAD | |
| rs1315374383 | 1223 | R>H | No |
TOPMed gnomAD |
|
| rs1315374383 | 1223 | R>L | No |
TOPMed gnomAD |
|
| rs1315374383 | 1223 | R>P | No |
TOPMed gnomAD |
|
| rs1306274833 | 1223 | R>S | No | gnomAD | |
| rs2151381841 | 1224 | D>E | No | Ensembl | |
| rs777767339 | 1224 | D>H | No |
ExAC gnomAD |
|
| rs777767339 | 1224 | D>N | No |
ExAC gnomAD |
|
| rs2151381844 | 1224 | D>V | No | Ensembl | |
| rs2151381829 | 1225 | A>G | No | Ensembl | |
| rs2052609627 | 1225 | A>P | No | Ensembl | |
| rs2052609627 | 1225 | A>S | No | Ensembl | |
| rs2151381829 | 1225 | A>V | No | Ensembl | |
| rs2151381798 | 1226 | A>D | No | Ensembl | |
| rs2151381798 | 1226 | A>G | No | Ensembl | |
| rs2151381808 | 1226 | A>P | No | Ensembl | |
| rs2151381808 | 1226 | A>S | No | Ensembl | |
| rs2151381808 | 1226 | A>T | No | Ensembl | |
| rs2151381798 | 1226 | A>V | No | Ensembl | |
| rs2151381781 | 1227 | Y>* | No | Ensembl | |
| rs2151381786 | 1227 | Y>F | No | Ensembl | |
| rs2151381768 | 1228 | Y>* | No | Ensembl | |
| rs2151381771 | 1228 | Y>F | No | Ensembl | |
| rs2151381771 | 1228 | Y>S | No | Ensembl | |
| TCGA novel | 1229 | S>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151381764 | 1229 | S>C | No | Ensembl | |
| rs769985879 | 1229 | S>I | No |
ExAC gnomAD |
|
| rs769985879 | 1229 | S>N | No |
ExAC gnomAD |
|
| rs769985879 | 1229 | S>T | No |
ExAC gnomAD |
|
| rs2151381750 | 1230 | Y>H | No | Ensembl | |
| rs2151381750 | 1230 | Y>N | No | Ensembl | |
|
COSM1737915 rs2151381747 |
1230 | Y>S | prostate [Cosmic] | No |
cosmic curated Ensembl |
| rs2151381730 | 1231 | Q>* | No | Ensembl | |
| rs2151381730 | 1231 | Q>E | No | Ensembl | |
| rs2151381724 | 1231 | Q>H | No | Ensembl | |
| TCGA novel | 1231 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2052609327 | 1232 | N>K | No | gnomAD | |
| COSM4934881 | 1232 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2151381720 | 1233 | R>G | No | Ensembl | |
| rs1057518844 | 1233 | R>M | No | Ensembl | |
|
rs2052480703 RCV001091531 |
1234 | Y>C | No |
ClinVar Ensembl dbSNP |
|
| rs2151373806 | 1235 | H>D | No | Ensembl | |
|
RCV001009128 rs1596839727 |
1236 | F>missing | No |
ClinVar dbSNP |
|
| COSM96466 | 1237 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2151373793 | 1238 | E>V | No | Ensembl | |
| rs2151373764 | 1244 | I>M | No | Ensembl | |
| rs766731220 | 1245 | Q>E | No |
ExAC gnomAD |
|
| rs2151373748 | 1245 | Q>R | No | Ensembl | |
|
COSM970580 rs2151373743 |
1246 | G>D | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2151373743 | 1246 | G>V | No | Ensembl | |
| rs2151373710 | 1247 | E>D | No | Ensembl | |
|
RCV001355180 rs1567282647 |
1247 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000523682 rs1555476935 CA394568038 |
1248 | N>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1249 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1567282634 | 1250 | T>N | No | TOPMed | |
| rs1419714822 | 1251 | L>P | No | gnomAD | |
| TCGA novel | 1252 | G>D | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151373677 | 1253 | D>N | No | Ensembl | |
| rs1596839549 | 1254 | D>A | No | Ensembl | |
| rs1005189041 | 1254 | D>N | No | Ensembl | |
| rs1005189041 | 1254 | D>Y | No | Ensembl | |
| rs1179176334 | 1255 | P>S | No | gnomAD | |
| rs2151373639 | 1257 | Q>* | No | Ensembl | |
| rs1192347377 | 1258 | P>H | No |
TOPMed gnomAD |
|
| rs1192347377 | 1258 | P>L | No |
TOPMed gnomAD |
|
| rs1269891200 | 1258 | P>S | No | gnomAD | |
| COSM1563118 | 1259 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs777015995 | 1260 | T>M | No |
ExAC gnomAD |
|
| rs1339355417 | 1261 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1339355417 | 1261 | T>R | No | gnomAD | |
| rs2151368558 | 1261 | T>S | No | Ensembl | |
| rs2151368539 | 1262 | I>N | No | Ensembl | |
| rs1315609894 | 1262 | I>V | No | gnomAD | |
| rs2151368517 | 1263 | S>* | No | Ensembl | |
| rs2151368517 | 1263 | S>L | No | Ensembl | |
| rs2151368525 | 1263 | S>T | No | Ensembl | |
| rs2151368504 | 1264 | K>* | No | Ensembl | |
| rs2151368495 | 1264 | K>M | No | Ensembl | |
| rs2151368483 | 1264 | K>N | No | Ensembl | |
| rs2151368456 | 1265 | D>E | No | Ensembl | |
| rs976949877 | 1265 | D>H | No |
TOPMed gnomAD |
|
| rs976949877 | 1265 | D>N | No |
TOPMed gnomAD |
|
| rs2151368466 | 1265 | D>V | No | Ensembl | |
| rs976949877 | 1265 | D>Y | No |
TOPMed gnomAD |
|
| rs2151368448 | 1266 | Q>* | No | Ensembl | |
| rs2151368448 | 1266 | Q>E | No | Ensembl | |
| rs1483614445 | 1266 | Q>H | No | TOPMed | |
| rs2052429052 | 1266 | Q>L | No | TOPMed | |
| rs2052429052 | 1266 | Q>R | No | TOPMed | |
| rs2151368424 | 1267 | F>I | No | Ensembl | |
| rs2151368410 | 1267 | F>L | No | Ensembl | |
| rs2151368415 | 1267 | F>Y | No | Ensembl | |
| rs747251277 | 1268 | E>Q | No |
ExAC gnomAD |
|
| rs2151368396 | 1269 | K>E | No | Ensembl | |
| rs201862654 | 1269 | K>M | No |
1000Genomes gnomAD |
|
| rs775774642 | 1269 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs201862654 | 1269 | K>R | No |
1000Genomes gnomAD |
|
| TCGA novel | 1269 | K>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151368370 | 1270 | K>E | No | Ensembl | |
| rs2151368354 | 1270 | K>N | No | Ensembl | |
| rs1052212575 | 1270 | K>R | No | Ensembl | |
| rs2151368333 | 1271 | K>R | No | Ensembl | |
| rs2151368278 | 1272 | N>T | No | Ensembl | |
| rs2151368308 | 1272 | N>Y | No | Ensembl | |
| rs2151368219 | 1273 | D>E | No | Ensembl | |
| rs2151368232 | 1273 | D>G | No | Ensembl | |
| rs2151368250 | 1273 | D>H | No | Ensembl | |
| rs2151368250 | 1273 | D>N | No | Ensembl | |
| rs2151368232 | 1273 | D>V | No | Ensembl | |
| rs771768342 | 1274 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs771768342 | 1274 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs771768342 | 1274 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs2151368206 | 1274 | T>S | No | Ensembl | |
| rs2151368149 | 1275 | L>* | No | Ensembl | |
| rs2151368168 | 1275 | L>I | No | Ensembl | |
| rs2151368107 | 1276 | D>A | No | Ensembl | |
| rs745617177 | 1276 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1190687085 | 1276 | D>H | No | Ensembl | |
| rs1190687085 | 1276 | D>N | No | Ensembl | |
| rs2151368107 | 1276 | D>V | No | Ensembl | |
| rs778840635 | 1277 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs2151368078 | 1277 | P>H | No | Ensembl | |
| rs2151368078 | 1277 | P>L | No | Ensembl | |
| rs2151368078 | 1277 | P>R | No | Ensembl | |
| rs778840635 | 1277 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs778840635 | 1277 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs2151368003 | 1278 | E>D | No | Ensembl | |
| rs2151368021 | 1278 | E>V | No | Ensembl | |
| rs2151367978 | 1279 | P>A | No | Ensembl | |
| rs749189606 | 1279 | P>H | No |
ExAC TOPMed gnomAD |
|
|
rs749189606 COSM4060710 |
1279 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs2151367978 | 1279 | P>S | No | Ensembl | |
| rs2151367978 | 1279 | P>T | No | Ensembl | |
| rs2151355987 | 1280 | F>I | No | Ensembl | |
| rs1230938889 | 1280 | F>L | No | gnomAD | |
| TCGA novel | 1280 | F>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151355973 | 1280 | F>Y | No | Ensembl | |
| rs2151355921 | 1281 | V>D | No | Ensembl | |
| rs201874248 | 1281 | V>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs201874248 | 1281 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1219633810 | 1282 | D>E | No |
TOPMed gnomAD |
|
| rs760692032 | 1282 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs1452104250 | 1282 | D>H | No | gnomAD | |
| rs1452104250 | 1282 | D>N | No | gnomAD | |
| rs760692032 | 1282 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs2151355851 | 1283 | C>F | No | Ensembl | |
| TCGA novel | 1283 | C>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151355851 | 1283 | C>S | No | Ensembl | |
| rs2151355837 | 1283 | C>W | No | Ensembl | |
| rs2151355851 | 1283 | C>Y | No | Ensembl | |
| rs2151355820 | 1284 | K>N | No | Ensembl | |
| rs1355176917 | 1285 | E>* | No | gnomAD | |
| rs2151355782 | 1285 | E>D | No | Ensembl | |
| rs1355176917 | 1285 | E>K | No | gnomAD | |
| rs1355176917 | 1285 | E>Q | No | gnomAD | |
| rs2151355793 | 1285 | E>V | No | Ensembl | |
| rs2151355735 | 1286 | C>* | No | Ensembl | |
| rs2151355768 | 1286 | C>S | No | Ensembl | |
| rs2151355755 | 1286 | C>S | No | Ensembl | |
| rs2151355735 | 1286 | C>W | No | Ensembl | |
| rs2151355714 | 1287 | G>A | No | Ensembl | |
|
COSM3817964 rs2151355714 |
1287 | G>D | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2151355728 | 1287 | G>S | No | Ensembl | |
| rs2151355714 | 1287 | G>V | No | Ensembl | |
| rs2151355692 | 1288 | R>G | No | Ensembl | |
| rs371780176 | 1288 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs371780176 | 1288 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs371780176 | 1288 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151355692 | 1288 | R>W | No | Ensembl | |
| rs2151355664 | 1289 | K>* | No | Ensembl | |
| rs2151355664 | 1289 | K>E | No | Ensembl | |
| rs2151355644 | 1289 | K>N | No | Ensembl | |
| rs1350482416 | 1289 | K>R | No | gnomAD | |
| rs2151355619 | 1290 | M>I | No | Ensembl | |
| rs2052316306 | 1290 | M>K | No | TOPMed | |
| rs2052316306 | 1290 | M>T | No | TOPMed | |
| rs2151355607 | 1291 | H>D | No | Ensembl | |
| rs2151355600 | 1291 | H>L | No | Ensembl | |
| rs2151355593 | 1291 | H>Q | No | Ensembl | |
| rs2151355607 | 1291 | H>Y | No | Ensembl | |
|
rs2151355584 COSM254626 |
1292 | Q>* | urinary_tract [Cosmic] | No |
cosmic curated Ensembl |
| rs2151355584 | 1292 | Q>E | No | Ensembl | |
| rs2151355566 | 1292 | Q>H | No | Ensembl | |
| rs2151355575 | 1292 | Q>R | No | Ensembl | |
| rs1741598859 | 1293 | I>F | No | TOPMed | |
| rs2151355551 | 1293 | I>N | No | Ensembl | |
| rs1741598859 | 1293 | I>V | No | TOPMed | |
| rs2151355535 | 1294 | C>S | No | Ensembl | |
| rs2151355542 | 1294 | C>S | No | Ensembl | |
| rs2151355535 | 1294 | C>Y | No | Ensembl | |
| COSM3509556 | 1295 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2151355510 | 1295 | V>D | No | Ensembl | |
| rs559939930 | 1295 | V>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs559939930 | 1295 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs559939930 | 1295 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2151355491 | 1296 | L>Q | No | Ensembl | |
| rs770721212 | 1296 | L>V | No |
ExAC gnomAD |
|
| rs1057521558 | 1297 | H>D | No | Ensembl | |
| rs2151355465 | 1297 | H>L | No | Ensembl | |
| rs1057521558 | 1297 | H>N | No | Ensembl | |
| rs2151355460 | 1297 | H>Q | No | Ensembl | |
|
RCV000421287 CA16608188 rs1057521558 RCV002510889 |
1297 | H>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs773159964 | 1298 | Y>F | No |
ExAC TOPMed gnomAD |
|
| rs2052315739 | 1298 | Y>N | No | Ensembl | |
| rs2052315442 | 1299 | D>E | No | Ensembl | |
| rs1362502121 | 1299 | D>H | No | gnomAD | |
| rs1362502121 | 1299 | D>N | No | gnomAD | |
| rs2151355431 | 1299 | D>V | No | Ensembl | |
| rs2052315379 | 1300 | I>F | No | gnomAD | |
| rs129974 | 1300 | I>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2151355390 | 1301 | I>F | No | Ensembl | |
| rs2151355361 | 1302 | W>* | No | Ensembl | |
| rs2151355371 | 1302 | W>* | No | Ensembl | |
| rs2151355361 | 1302 | W>C | No | Ensembl | |
| rs2151355371 | 1302 | W>S | No | Ensembl | |
| rs2151355349 | 1303 | P>A | No | Ensembl | |
| rs2151355338 | 1303 | P>R | No | Ensembl | |
| rs2151355349 | 1303 | P>T | No | Ensembl | |
| rs2151355308 | 1304 | S>* | No | Ensembl | |
| rs2052315155 | 1304 | S>P | No | TOPMed | |
| rs2151355293 | 1305 | G>C | No | Ensembl | |
| rs2151355281 | 1305 | G>D | No | Ensembl | |
| rs2151355293 | 1305 | G>S | No | Ensembl | |
| rs2151355281 | 1305 | G>V | No | Ensembl | |
| rs1261198229 | 1306 | F>S | No |
TOPMed gnomAD |
|
| rs762120512 | 1306 | F>V | No |
ExAC TOPMed gnomAD |
|
| rs751602717 | 1307 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs751602717 | 1307 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs2052305176 | 1308 | C>Y | No | gnomAD | |
|
RCV001582112 rs2151354158 |
1309 | D>E | No |
ClinVar Ensembl dbSNP |
|
| rs758668926 | 1309 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs372799049 | 1310 | N>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151354128 | 1311 | C>Y | No | Ensembl | |
| rs982920612 | 1312 | L>V | No |
TOPMed gnomAD |
|
| rs1182146047 | 1314 | K>N | No | gnomAD | |
| rs2151354084 | 1315 | T>I | No | Ensembl | |
| rs776643295 | 1316 | G>C | No |
ExAC gnomAD |
|
| rs2151354058 | 1316 | G>D | No | Ensembl | |
| rs776643295 | 1316 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| TCGA novel | 1318 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1252438256 COSM970578 |
1319 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs2052304476 | 1320 | K>E | No | Ensembl | |
| rs2151354008 | 1321 | E>Q | No | Ensembl | |
| rs1413282917 | 1322 | N>K | No | TOPMed | |
| rs2052304396 | 1322 | N>Y | No | Ensembl | |
| rs1305897515 | 1323 | K>T | No | gnomAD | |
| rs764074175 | 1324 | F>I | No |
ExAC TOPMed gnomAD |
|
| rs1246720374 | 1324 | F>Y | No | gnomAD | |
| rs760292945 | 1325 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs375750157 | 1325 | S>R | No |
ESP TOPMed |
|
| COSM3509555 | 1327 | K>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2151341360 | 1328 | R>K | No | Ensembl | |
| rs2151341360 | 1328 | R>M | No | Ensembl | |
| rs2151341345 | 1328 | R>S | No | Ensembl | |
| rs2151341360 | 1328 | R>T | No | Ensembl | |
| rs2151341331 | 1329 | L>P | No | Ensembl | |
| rs2151341331 | 1329 | L>Q | No | Ensembl | |
| rs2151341331 | 1329 | L>R | No | Ensembl | |
| rs2151341316 | 1330 | Q>* | No | Ensembl | |
|
COSM4151332 rs2151341316 |
1330 | Q>E | kidney [Cosmic] | No |
cosmic curated Ensembl |
| rs2151341284 | 1330 | Q>H | No | Ensembl | |
| rs587783487 | 1330 | Q>L | No | Ensembl | |
| rs760738733 | 1331 | T>A | No |
ExAC gnomAD |
|
|
TCGA novel rs2151341259 |
1331 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2151341259 | 1331 | T>N | No | Ensembl | |
| rs760738733 | 1331 | T>P | No |
ExAC gnomAD |
|
| rs760738733 | 1331 | T>S | No |
ExAC gnomAD |
|
| rs2151341259 | 1331 | T>S | No | Ensembl | |
|
rs794727391 CA275120 RCV000176482 |
1332 | T>missing | No |
ClinGen ClinVar dbSNP |
|
| rs2151341227 | 1332 | T>I | No | Ensembl | |
| rs2151341227 | 1332 | T>K | No | Ensembl | |
| rs2151341227 | 1332 | T>R | No | Ensembl | |
| rs2151341204 | 1333 | R>* | No | Ensembl | |
| rs2151341194 | 1333 | R>I | No | Ensembl | |
| rs2151341194 | 1333 | R>K | No | Ensembl | |
| rs1567273064 | 1333 | R>S | No | Ensembl | |
| rs2151341194 | 1333 | R>T | No | Ensembl | |
| rs2151341154 | 1334 | L>P | No | Ensembl | |
| rs2151341154 | 1334 | L>Q | No | Ensembl | |
| rs2151341168 | 1334 | L>V | No | Ensembl | |
| rs2151341131 | 1335 | G>* | No | Ensembl | |
| rs2151341118 | 1335 | G>A | No | Ensembl | |
| rs2151341118 | 1335 | G>E | No | Ensembl | |
| rs2151341131 | 1335 | G>R | No | Ensembl | |
| rs2151341118 | 1335 | G>V | No | Ensembl | |
| rs2151341101 | 1336 | N>D | No | Ensembl | |
| rs2151341094 | 1336 | N>I | No | Ensembl | |
| rs2151341094 | 1336 | N>S | No | Ensembl | |
| rs2151341101 | 1336 | N>Y | No | Ensembl | |
| rs2151341081 | 1337 | H>D | No | Ensembl | |
| rs2151341069 | 1337 | H>L | No | Ensembl | |
| rs2151341069 | 1337 | H>P | No | Ensembl | |
| rs1013942234 | 1337 | H>Q | No |
TOPMed gnomAD |
|
| rs2151341069 | 1337 | H>R | No | Ensembl | |
| rs2151341081 | 1337 | H>Y | No | Ensembl | |
| rs2151341032 | 1338 | L>* | No | Ensembl | |
| rs1432126330 | 1338 | L>F | No | gnomAD | |
| rs2052177999 | 1338 | L>M | No |
TOPMed gnomAD |
|
| COSM74259 | 1338 | L>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2151340998 | 1339 | E>* | No | Ensembl | |
| rs369543988 | 1339 | E>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151340998 | 1339 | E>K | No | Ensembl | |
| rs2151340998 | 1339 | E>Q | No | Ensembl | |
| rs1567273039 | 1340 | D>E | No | Ensembl | |
| rs2151340982 | 1340 | D>G | No | Ensembl | |
| rs2151340982 | 1340 | D>V | No | Ensembl | |
|
COSM79348 rs1490222282 |
1341 | R>* | Variant assessed as Somatic; HIGH impact. ovary large_intestine central_nervous_system haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed gnomAD |
| rs1490222282 | 1341 | R>G | No |
TOPMed gnomAD |
|
|
rs587783488 COSM88736 |
1341 | R>Q | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs2151340930 | 1342 | V>A | No | Ensembl | |
| rs2151340930 | 1342 | V>E | No | Ensembl | |
| rs2151340930 | 1342 | V>G | No | Ensembl | |
| rs2151340938 | 1342 | V>L | No | Ensembl | |
| rs2151340938 | 1342 | V>M | No | Ensembl | |
| rs2151340909 | 1343 | N>D | No | Ensembl | |
| rs2151340898 | 1343 | N>I | No | Ensembl | |
| rs2151340885 | 1343 | N>K | No | Ensembl | |
| rs2151340898 | 1343 | N>S | No | Ensembl | |
| rs2151340898 | 1343 | N>T | No | Ensembl | |
| rs2151340909 | 1343 | N>Y | No | Ensembl | |
| rs2151340877 | 1344 | K>* | No | Ensembl | |
| rs2151340866 | 1344 | K>N | No | Ensembl | |
| rs2151340877 | 1344 | K>Q | No | Ensembl | |
|
COSM970576 rs2151340846 |
1345 | F>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2151340852 | 1345 | F>I | No | Ensembl | |
| rs2151340840 | 1345 | F>L | No | Ensembl | |
| rs2151340852 | 1345 | F>L | No | Ensembl | |
| rs2151340852 | 1345 | F>V | No | Ensembl | |
| rs2151340846 | 1345 | F>Y | No | Ensembl | |
| rs2151340819 | 1346 | L>* | No | Ensembl | |
| TCGA novel | 1346 | L>F | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767200454 TCGA novel |
1346 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC gnomAD |
| rs2151340819 | 1346 | L>W | No | Ensembl | |
| rs867855180 | 1347 | R>G | No |
TOPMed gnomAD |
|
| rs1596813665 | 1347 | R>L | No | Ensembl | |
| rs1596813665 | 1347 | R>Q | No | Ensembl | |
|
COSM3402318 rs867855180 |
1347 | R>W | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs2052177265 | 1348 | R>C | No | TOPMed | |
| rs2052177265 | 1348 | R>G | No | TOPMed | |
| rs1207183178 | 1348 | R>H | No | gnomAD | |
| rs1207183178 | 1348 | R>L | No | gnomAD | |
| rs1207183178 | 1348 | R>P | No | gnomAD | |
| rs2052177265 | 1348 | R>S | No | TOPMed | |
|
CA658798531 rs1555473890 RCV000598956 |
1349 | Q>missing | No |
ClinGen ClinVar dbSNP |
|
| rs587783489 | 1349 | Q>E | No | Ensembl | |
| rs2151340742 | 1349 | Q>H | No | Ensembl | |
| rs587783489 | 1349 | Q>K | No | Ensembl | |
| rs2151340721 | 1350 | N>D | No | Ensembl | |
| rs2151340721 | 1350 | N>H | No | Ensembl | |
| rs2151340702 | 1350 | N>I | No | Ensembl | |
| rs2151340702 | 1350 | N>T | No | Ensembl | |
| rs2151340721 | 1350 | N>Y | No | Ensembl | |
| rs2151340677 | 1351 | H>D | No | Ensembl | |
| rs1596813643 | 1351 | H>L | No | Ensembl | |
| rs1596813643 | 1351 | H>P | No | Ensembl | |
| rs2151340650 | 1351 | H>Q | No | Ensembl | |
| rs2151340677 | 1351 | H>Y | No | Ensembl | |
| rs2151340636 | 1352 | P>A | No | Ensembl | |
| rs2151340619 | 1352 | P>H | No | Ensembl | |
| rs2151340619 | 1352 | P>L | No | Ensembl | |
| rs2151340619 | 1352 | P>R | No | Ensembl | |
| rs2151340636 | 1352 | P>S | No | Ensembl | |
| rs2151340636 | 1352 | P>T | No | Ensembl | |
| rs2151340588 | 1353 | E>* | No | Ensembl | |
| rs2151340559 | 1353 | E>D | No | Ensembl | |
| rs2151340571 | 1353 | E>G | No | Ensembl | |
| rs2151340588 | 1353 | E>K | No | Ensembl | |
| rs2151340588 | 1353 | E>Q | No | Ensembl | |
| rs2151340571 | 1353 | E>V | No | Ensembl | |
| rs1486317585 | 1354 | A>D | No | gnomAD | |
| rs1486317585 | 1354 | A>G | No | gnomAD | |
| rs2052176813 | 1354 | A>P | No | TOPMed | |
| rs2052176813 | 1354 | A>S | No | TOPMed | |
| rs2052176813 | 1354 | A>T | No | TOPMed | |
|
rs1486317585 COSM96414 |
1354 | A>V | ovary [Cosmic] | No |
cosmic curated gnomAD |
| rs2151340479 | 1355 | G>A | No | Ensembl | |
| rs2151340479 | 1355 | G>E | No | Ensembl | |
|
rs774076896 COSM178793 |
1355 | G>R | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs2151340479 | 1355 | G>V | No | Ensembl | |
| rs774076896 | 1355 | G>W | No |
ExAC TOPMed gnomAD |
|
| rs2052176518 | 1356 | E>* | No | Ensembl | |
| rs770452365 | 1356 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs2151340439 | 1356 | E>G | No | Ensembl | |
| rs2052176518 | 1356 | E>K | No | Ensembl | |
| rs2052176518 | 1356 | E>Q | No | Ensembl | |
| rs2151340395 | 1357 | V>A | No | Ensembl | |
| rs2151340395 | 1357 | V>D | No | Ensembl | |
| rs1165479692 | 1357 | V>F | No | TOPMed | |
| rs2151340395 | 1357 | V>G | No | Ensembl | |
| rs1165479692 | 1357 | V>I | No | TOPMed | |
| rs1165479692 | 1357 | V>L | No | TOPMed | |
| rs762638591 | 1358 | F>C | No |
ExAC TOPMed gnomAD |
|
| rs2151340369 | 1358 | F>L | No | Ensembl | |
| rs762638591 | 1358 | F>Y | No |
ExAC TOPMed gnomAD |
|
| rs2151340328 | 1359 | V>D | No | Ensembl | |
| rs1222801419 | 1359 | V>F | No | gnomAD | |
| rs2151340328 | 1359 | V>G | No | Ensembl | |
| rs1222801419 | 1359 | V>I | No | gnomAD | |
| rs1222801419 | 1359 | V>L | No | gnomAD | |
| rs587783490 | 1360 | R>G | No | Ensembl | |
| rs2052175994 | 1360 | R>L | No |
TOPMed gnomAD |
|
| rs2052175994 | 1360 | R>P | No |
TOPMed gnomAD |
|
|
rs2052175994 COSM1377833 |
1360 | R>Q | large_intestine [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs2151340237 | 1361 | V>A | No | Ensembl | |
| rs2151340237 | 1361 | V>E | No | Ensembl | |
| rs2151340237 | 1361 | V>G | No | Ensembl | |
| rs748679382 | 1361 | V>L | No | Ensembl | |
| rs2151340213 | 1362 | V>E | No | Ensembl | |
| rs2052175855 | 1362 | V>L | No | gnomAD | |
| rs2052175855 | 1362 | V>M | No | gnomAD | |
| rs1343173815 | 1363 | A>G | No | gnomAD | |
| rs2151340204 | 1363 | A>P | No | Ensembl | |
| rs2151340204 | 1363 | A>T | No | Ensembl | |
| rs2151340181 | 1364 | S>I | No | Ensembl | |
| rs2151340181 | 1364 | S>N | No | Ensembl | |
| rs2151340176 | 1364 | S>R | No | Ensembl | |
| rs2151340181 | 1364 | S>T | No | Ensembl | |
|
COSM1741789 COSM1284301 rs2151340158 |
1365 | S>* | autonomic_ganglia urinary_tract [Cosmic] | No |
cosmic curated Ensembl |
| rs2151340158 | 1365 | S>L | No | Ensembl | |
| rs2151340165 | 1365 | S>P | No | Ensembl | |
| rs2151340165 | 1365 | S>T | No | Ensembl | |
| rs2151340126 | 1366 | D>A | No | Ensembl | |
|
TCGA novel rs2151340118 |
1366 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2151340126 | 1366 | D>G | No | Ensembl | |
| rs2151340143 | 1366 | D>H | No | Ensembl | |
| rs2151340143 | 1366 | D>N | No | Ensembl | |
| rs2151340126 | 1366 | D>V | No | Ensembl | |
| rs2151340111 | 1367 | K>M | No | Ensembl | |
|
COSM1519210 COSM6144608 rs2151340104 |
1367 | K>N | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic Ensembl |
| rs2151340111 | 1367 | K>R | No | Ensembl | |
| rs2151340089 | 1368 | T>A | No | Ensembl | |
| rs144961662 | 1368 | T>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151340089 | 1368 | T>P | No | Ensembl | |
| rs144961662 | 1368 | T>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151340089 | 1368 | T>S | No | Ensembl | |
| rs2151340056 | 1369 | V>A | No | Ensembl | |
| rs2151340056 | 1369 | V>E | No | Ensembl | |
| rs2151340056 | 1369 | V>G | No | Ensembl | |
| rs2052175455 | 1369 | V>M | No | Ensembl | |
| rs2052175398 | 1370 | E>D | No | TOPMed | |
| rs1567272940 | 1371 | V>A | No | Ensembl | |
| rs1567272940 | 1371 | V>G | No | Ensembl | |
| rs2151340032 | 1371 | V>I | No | Ensembl | |
| rs2151340032 | 1371 | V>L | No | Ensembl | |
| rs2151340002 | 1372 | K>E | No | Ensembl | |
| rs2151339987 | 1372 | K>M | No | Ensembl | |
| rs2151339980 | 1372 | K>N | No | Ensembl | |
| rs2151340002 | 1372 | K>Q | No | Ensembl | |
| rs2151339987 | 1372 | K>R | No | Ensembl | |
| rs2151339987 | 1372 | K>T | No | Ensembl | |
|
TCGA novel rs2151339970 |
1373 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs867556262 | 1373 | P>L | No | Ensembl | |
| rs867556262 | 1373 | P>R | No | Ensembl | |
| rs2151339970 | 1373 | P>S | No | Ensembl | |
| rs2052174869 | 1374 | G>E | No |
TOPMed gnomAD |
|
| rs747582040 | 1374 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2052174869 | 1374 | G>V | No |
TOPMed gnomAD |
|
| rs747582040 | 1374 | G>W | No |
ExAC TOPMed gnomAD |
|
| rs2151339904 | 1375 | M>I | No | Ensembl | |
| rs2151339909 | 1375 | M>K | No | Ensembl | |
| rs2151339920 | 1375 | M>L | No | Ensembl | |
| rs2151339909 | 1375 | M>R | No | Ensembl | |
| rs2151339920 | 1375 | M>V | No | Ensembl | |
| rs2151339902 | 1376 | K>E | No | Ensembl | |
| rs2151339895 | 1376 | K>M | No | Ensembl | |
| rs2151339883 | 1376 | K>N | No | Ensembl | |
| rs2151339895 | 1376 | K>R | No | Ensembl | |
| rs2151339853 | 1377 | S>* | No | Ensembl | |
| rs2151339866 | 1377 | S>A | No | Ensembl | |
| rs2151339853 | 1377 | S>L | No | Ensembl | |
| rs2151339866 | 1377 | S>T | No | Ensembl | |
| rs1480391685 | 1378 | R>G | No | gnomAD | |
| rs121434626 | 1378 | R>L | No | Ensembl | |
|
COSM369651 rs1480391685 |
1378 | R>W | lung [Cosmic] | No |
cosmic curated gnomAD |
| rs2151337689 | 1379 | F>I | No | Ensembl | |
| rs2151337679 | 1379 | F>Y | No | Ensembl | |
| rs757859569 | 1380 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs757859569 | 1380 | V>E | No |
ExAC TOPMed gnomAD |
|
| rs757859569 | 1380 | V>G | No |
ExAC TOPMed gnomAD |
|
| rs2151337629 | 1381 | D>E | No | Ensembl | |
| rs2052155279 | 1381 | D>H | No | TOPMed | |
| rs2052155279 | 1381 | D>Y | No | TOPMed | |
| rs149877180 | 1382 | S>C | No | ESP | |
| rs2151337619 | 1382 | S>P | No | Ensembl | |
| rs2151337619 | 1382 | S>T | No | Ensembl | |
| rs2151337579 | 1383 | G>A | No | Ensembl | |
| rs2151337579 | 1383 | G>E | No | Ensembl | |
| rs2151337596 | 1383 | G>R | No | Ensembl | |
|
COSM3672255 rs2151337579 |
1383 | G>V | prostate [Cosmic] | No |
cosmic curated Ensembl |
| rs2151337596 | 1383 | G>W | No | Ensembl | |
| rs1567272395 | 1384 | E>* | No | Ensembl | |
| rs2151337539 | 1384 | E>D | No | Ensembl | |
| rs1567272395 | 1384 | E>Q | No | Ensembl | |
| rs2151337517 | 1385 | M>I | No | Ensembl | |
| rs2151337526 | 1385 | M>R | No | Ensembl | |
| rs2151337532 | 1385 | M>V | No | Ensembl | |
| rs2151337511 | 1386 | S>A | No | Ensembl | |
| rs535215805 | 1386 | S>C | No |
1000Genomes ExAC gnomAD |
|
| rs535215805 | 1386 | S>F | No |
1000Genomes ExAC gnomAD |
|
| rs2151337511 | 1386 | S>T | No | Ensembl | |
| rs535215805 | 1386 | S>Y | No |
1000Genomes ExAC gnomAD |
|
| rs764823751 | 1387 | E>D | No |
ExAC gnomAD |
|
| rs2151337482 | 1387 | E>K | No | Ensembl | |
| rs2151337482 | 1387 | E>Q | No | Ensembl | |
| rs2151337474 | 1387 | E>V | No | Ensembl | |
| rs761058155 | 1388 | S>C | No |
ExAC gnomAD |
|
| rs761058155 | 1388 | S>F | No |
ExAC gnomAD |
|
| rs2151337454 | 1389 | F>I | No | Ensembl | |
| rs2151337440 | 1389 | F>L | No | Ensembl | |
| COSM280130 | 1389 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2151337446 | 1389 | F>Y | No | Ensembl | |
| rs2151337431 | 1390 | P>A | No | Ensembl | |
| rs2151337420 | 1390 | P>L | No | Ensembl | |
| rs2151337420 | 1390 | P>Q | No | Ensembl | |
| rs2151337420 | 1390 | P>R | No | Ensembl | |
| rs2151337431 | 1390 | P>S | No | Ensembl | |
| rs2151337431 | 1390 | P>T | No | Ensembl | |
| rs2151337408 | 1391 | Y>D | No | Ensembl | |
| rs1319178880 | 1391 | Y>F | No | gnomAD | |
| rs1596812306 | 1392 | R>G | No | Ensembl | |
| rs1596812290 | 1392 | R>P | No | Ensembl | |
|
rs1596812290 COSM3817963 |
1392 | R>Q | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs1032505371 | 1393 | T>A | No |
TOPMed gnomAD |
|
| rs2151337354 | 1393 | T>I | No | Ensembl | |
| rs2151337354 | 1393 | T>S | No | Ensembl | |
| rs1032505371 | 1393 | T>S | No |
TOPMed gnomAD |
|
| rs2151337334 | 1394 | K>I | No | Ensembl | |
| rs2151337329 | 1394 | K>N | No | Ensembl | |
|
RCV000485827 rs1064796948 CA16620205 |
1395 | A>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1064796948 | 1395 | A>G | No | Ensembl | |
| rs1064796948 | 1395 | A>V | No | Ensembl | |
| rs2151337291 | 1396 | L>Q | No | Ensembl | |
| rs1340848193 | 1396 | L>V | No |
TOPMed gnomAD |
|
| rs2151337276 | 1397 | F>I | No | Ensembl | |
| rs2151337276 | 1397 | F>L | No | Ensembl | |
| rs2151337260 | 1397 | F>S | No | Ensembl | |
| rs2151337276 | 1397 | F>V | No | Ensembl | |
| rs2151337260 | 1397 | F>Y | No | Ensembl | |
| rs2151337253 | 1398 | A>G | No | Ensembl | |
| rs2151337253 | 1398 | A>V | No | Ensembl | |
| rs2151337235 | 1399 | F>I | No | Ensembl | |
| rs2151337223 | 1399 | F>L | No | Ensembl | |
| rs2151337235 | 1399 | F>V | No | Ensembl | |
| rs2151337228 | 1399 | F>Y | No | Ensembl | |
|
rs2151337214 COSM361828 |
1400 | E>* | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs1442602590 | 1400 | E>D | No |
TOPMed gnomAD |
|
| rs2151337203 | 1400 | E>G | No | Ensembl | |
| rs2151337214 | 1400 | E>K | No | Ensembl | |
| rs2151337214 | 1400 | E>Q | No | Ensembl | |
| rs2151337203 | 1400 | E>V | No | Ensembl | |
| rs2151337182 | 1401 | E>V | No | Ensembl | |
| rs2052153743 | 1402 | I>F | No | gnomAD | |
| rs2151337161 | 1402 | I>N | No | Ensembl | |
| rs2151337161 | 1402 | I>S | No | Ensembl | |
| rs2151337161 | 1402 | I>T | No | Ensembl | |
| rs2052153743 | 1402 | I>V | No | gnomAD | |
| rs2151337133 | 1403 | D>A | No | Ensembl | |
| rs774913651 | 1403 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs2151337133 | 1403 | D>G | No | Ensembl | |
| rs2151337140 | 1403 | D>H | No | Ensembl | |
| rs2151337140 | 1403 | D>N | No | Ensembl | |
| rs2151337133 | 1403 | D>V | No | Ensembl | |
| rs2151337140 | 1403 | D>Y | No | Ensembl | |
| rs1437164037 | 1404 | G>A | No | gnomAD | |
| rs2151337114 | 1404 | G>C | No | Ensembl | |
| rs1437164037 | 1404 | G>D | No | gnomAD | |
| rs2151337114 | 1404 | G>R | No | Ensembl | |
| rs2151337114 | 1404 | G>S | No | Ensembl | |
|
rs1437164037 COSM970574 |
1404 | G>V | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs2151337085 | 1405 | V>E | No | Ensembl | |
| rs140133512 | 1405 | V>L | No |
ESP TOPMed gnomAD |
|
| rs2151337048 | 1406 | D>E | No | Ensembl | |
| rs2052153184 | 1406 | D>G | No | Ensembl | |
| rs2052153254 | 1406 | D>H | No | Ensembl | |
| rs2052153254 | 1406 | D>N | No | Ensembl | |
| rs2151337022 | 1407 | V>D | No | Ensembl | |
| rs1224096861 | 1407 | V>F | No | gnomAD | |
| rs2151337022 | 1407 | V>G | No | Ensembl | |
| rs1224096861 | 1407 | V>I | No | gnomAD | |
| rs1224096861 | 1407 | V>L | No | gnomAD | |
| rs2151336979 | 1408 | C>F | No | Ensembl | |
| rs2151336991 | 1408 | C>R | No | Ensembl | |
| rs2151336979 | 1408 | C>S | No | Ensembl | |
| rs2151336991 | 1408 | C>S | No | Ensembl | |
| rs2151336967 | 1408 | C>W | No | Ensembl | |
|
COSM703032 rs2151336979 |
1408 | C>Y | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs1359483892 | 1409 | F>I | No | gnomAD | |
| rs1359483892 | 1409 | F>L | No | gnomAD | |
| rs587783492 | 1409 | F>Y | No | Ensembl | |
| rs2151336939 | 1410 | F>I | No | Ensembl | |
| rs2151336927 | 1410 | F>L | No | Ensembl | |
| TCGA novel | 1410 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1410 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151336937 | 1410 | F>Y | No | Ensembl | |
| rs201186078 | 1411 | G>A | No | Ensembl | |
|
rs201186078 COSM166405 |
1411 | G>E | Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
|
COSM166406 rs201983874 |
1411 | G>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
|
rs201186078 COSM318347 |
1411 | G>V | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs1555473668 | 1411 | G>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151336865 | 1412 | M>I | No | Ensembl | |
| rs2151336884 | 1412 | M>K | No | Ensembl | |
| rs2151336894 | 1412 | M>L | No | Ensembl | |
| rs2151336884 | 1412 | M>R | No | Ensembl | |
| rs2151336894 | 1412 | M>V | No | Ensembl | |
| rs2151336857 | 1413 | H>D | No | Ensembl | |
| rs2151336842 | 1413 | H>L | No | Ensembl | |
| rs2151336857 | 1413 | H>N | No | Ensembl | |
| rs2151336842 | 1413 | H>P | No | Ensembl | |
| rs770916337 | 1413 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs2151336842 | 1413 | H>R | No | Ensembl | |
| rs2151336857 | 1413 | H>Y | No | Ensembl | |
| rs2151336818 | 1414 | V>A | No | Ensembl | |
| rs2151336818 | 1414 | V>D | No | Ensembl | |
| rs2151336818 | 1414 | V>G | No | Ensembl | |
|
VAR_027953 rs130015 |
1414 | V>I | No |
UniProt ExAC TOPMed dbSNP gnomAD |
|
| rs130015 | 1414 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs1596812202 | 1415 | Q>E | No | Ensembl | |
| rs2151336784 | 1415 | Q>H | No | Ensembl | |
| rs1596812202 | 1415 | Q>K | No | Ensembl | |
| rs2151336791 | 1415 | Q>L | No | Ensembl | |
| rs2151336773 | 1416 | E>* | No | Ensembl | |
| rs2151336766 | 1416 | E>D | No | Ensembl | |
| rs2151336773 | 1416 | E>K | No | Ensembl | |
|
COSM1519211 rs2151336773 COSM6144609 |
1416 | E>Q | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic Ensembl |
|
COSM970572 rs61731412 |
1417 | Y>* | Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC TOPMed gnomAD |
| rs2151336747 | 1417 | Y>C | No | Ensembl | |
| rs2151336747 | 1417 | Y>F | No | Ensembl | |
| rs2151336759 | 1417 | Y>N | No | Ensembl | |
| rs2151336747 | 1417 | Y>S | No | Ensembl | |
| rs2151336719 | 1418 | G>A | No | Ensembl | |
| rs369991761 | 1418 | G>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151336719 | 1418 | G>D | No | Ensembl | |
| rs369991761 | 1418 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs369991761 | 1418 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151336719 | 1418 | G>V | No | Ensembl | |
| rs2151336692 | 1419 | S>C | No | Ensembl | |
| rs2151336692 | 1419 | S>F | No | Ensembl | |
| rs2151336701 | 1419 | S>P | No | Ensembl | |
| rs2151336701 | 1419 | S>T | No | Ensembl | |
| TCGA novel | 1419 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151336663 | 1420 | D>A | No | Ensembl | |
| rs2151336658 | 1420 | D>E | No | Ensembl | |
| rs2151336663 | 1420 | D>G | No | Ensembl | |
| rs2151336674 | 1420 | D>H | No | Ensembl | |
| rs2151336674 | 1420 | D>N | No | Ensembl | |
| rs2151336663 | 1420 | D>V | No | Ensembl | |
| rs61731413 | 1421 | C>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151336652 | 1421 | C>S | No | Ensembl | |
| rs200616542 | 1421 | C>S | No | Ensembl | |
| rs61731413 | 1421 | C>W | No |
ESP ExAC TOPMed gnomAD |
|
|
rs200616542 COSM166407 |
1421 | C>Y | Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
| rs139981850 | 1422 | P>A | No | ESP | |
| rs2151336621 | 1422 | P>H | No | Ensembl | |
| rs2151336621 | 1422 | P>R | No | Ensembl | |
| rs139981850 | 1422 | P>S | No | ESP | |
| rs797045493 | 1423 | P>A | No |
TOPMed gnomAD |
|
| rs780907309 | 1423 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs780907309 | 1423 | P>L | No |
ExAC TOPMed gnomAD |
|
| COSM4613429 | 1423 | P>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs780907309 | 1423 | P>R | No |
ExAC TOPMed gnomAD |
|
|
rs797045493 CA207767 RCV000193942 |
1423 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
| rs797045493 | 1423 | P>T | No |
TOPMed gnomAD |
|
|
RCV001780876 rs2151336580 |
1424 | P>missing | No |
ClinVar dbSNP |
|
| rs2151336570 | 1424 | P>A | No | Ensembl | |
| rs2151336559 | 1424 | P>L | No | Ensembl | |
| rs2151336559 | 1424 | P>Q | No | Ensembl | |
| rs2151336559 | 1424 | P>R | No | Ensembl | |
| rs2151336570 | 1424 | P>S | No | Ensembl | |
| TCGA novel | 1424 | P>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151336570 | 1424 | P>T | No | Ensembl | |
| rs771907971 | 1425 | N>D | No | Ensembl | |
| rs2151336545 | 1425 | N>I | No | Ensembl | |
| rs2151336545 | 1425 | N>S | No | Ensembl | |
| rs2151336545 | 1425 | N>T | No | Ensembl | |
|
rs369225460 COSM4990882 |
1426 | T>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs145988918 | 1426 | T>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs145988918 | 1426 | T>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1366252123 | 1426 | T>P | No | gnomAD | |
| rs1366252123 | 1426 | T>S | No | gnomAD | |
| rs2151336507 | 1427 | R>K | No | Ensembl | |
| rs2151336507 | 1427 | R>M | No | Ensembl | |
| rs2151336507 | 1427 | R>T | No | Ensembl | |
| rs794727401 | 1427 | R>W | No | Ensembl | |
|
COSM1377831 rs1387351570 |
1428 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA TOPMed |
| rs1387351570 | 1428 | R>G | No | TOPMed | |
| rs778448390 | 1428 | R>H | No | ExAC | |
|
RCV001771142 rs2151334580 |
1429 | V>L | No |
ClinVar Ensembl dbSNP |
|
| rs2151334580 | 1429 | V>M | No | Ensembl | |
| rs2151334568 | 1430 | Y>F | No | Ensembl | |
| rs2151334568 | 1430 | Y>S | No | Ensembl | |
| rs1486941702 | 1431 | I>F | No | gnomAD | |
| rs750573460 | 1431 | I>T | No | Ensembl | |
| rs1486941702 | 1431 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2151334533 | 1432 | S>C | No | Ensembl | |
| rs2151334533 | 1432 | S>F | No | Ensembl | |
| rs2151334541 | 1432 | S>T | No | Ensembl | |
| TCGA novel | 1433 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151334525 | 1433 | Y>F | No | Ensembl | |
| COSM88750 | 1434 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2151334510 | 1434 | L>V | No | Ensembl | |
|
rs200207299 COSM88747 |
1435 | D>G | Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
|
rs1596810419 COSM5434284 |
1435 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
|
rs1596810419 COSM1316076 |
1435 | D>N | Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| COSM220496 | 1436 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs2052129314 COSM5948954 |
1436 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA Cosmic |
| rs2151334466 | 1436 | S>T | No | Ensembl | |
|
COSM1580738 rs2151334442 |
1437 | I>F | Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2151334442 | 1437 | I>L | No | Ensembl | |
| COSM970570 | 1437 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1217572849 | 1437 | I>T | No | gnomAD | |
| rs2151334442 | 1437 | I>V | No | Ensembl | |
| rs2151334436 | 1438 | H>D | No | Ensembl | |
| rs2151334428 | 1438 | H>L | No | Ensembl | |
| rs2151334428 | 1438 | H>P | No | Ensembl | |
| rs2151334428 | 1438 | H>R | No | Ensembl | |
| rs2151334436 | 1438 | H>Y | No | Ensembl | |
|
COSM970568 rs2151334409 |
1439 | F>L | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| TCGA novel | 1439 | F>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1364129396 | 1440 | F>L | No | gnomAD | |
| rs2151334401 | 1440 | F>Y | No | Ensembl | |
| rs1271038944 | 1441 | R>G | No | gnomAD | |
| rs756756076 | 1441 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs756756076 | 1441 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs756756076 | 1441 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1271038944 | 1441 | R>W | No | gnomAD | |
| rs2151334361 | 1442 | P>A | No | Ensembl | |
| rs2151334354 | 1442 | P>L | No | Ensembl | |
| rs2151334354 | 1442 | P>R | No | Ensembl | |
| rs2151334361 | 1442 | P>S | No | Ensembl | |
| rs2151334361 | 1442 | P>T | No | Ensembl | |
|
COSM4674646 rs2151334336 |
1443 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2151334336 | 1443 | R>G | No | Ensembl | |
| rs2151334323 | 1443 | R>H | No | Ensembl | |
| rs2151334323 | 1443 | R>L | No | Ensembl | |
| rs2151334323 | 1443 | R>P | No | Ensembl | |
| rs1362847618 | 1444 | C>* | No | gnomAD | |
| rs1362847618 | 1444 | C>W | No | gnomAD | |
| rs753492623 | 1445 | L>F | No |
ExAC gnomAD |
|
| rs2151334297 | 1445 | L>H | No | Ensembl | |
| rs2151334297 | 1445 | L>P | No | Ensembl | |
| rs753492623 | 1445 | L>V | No |
ExAC gnomAD |
|
| rs1057519884 | 1446 | R>P | Medulloblastoma (mdb) [Ensembl] | No | Ensembl |
|
COSM1563120 rs398124146 |
1446 | R>S | Medulloblastoma (mdb) large_intestine [Ensembl, Cosmic] | No |
cosmic curated TOPMed |
| rs2151334254 | 1447 | T>K | No | Ensembl | |
| rs2151334254 | 1447 | T>R | No | Ensembl | |
| rs2151334262 | 1447 | T>S | No | Ensembl | |
| rs1470080284 | 1448 | A>D | No | gnomAD | |
| rs1470080284 | 1448 | A>G | No | gnomAD | |
| rs2151334238 | 1448 | A>P | No | Ensembl | |
| rs2151334238 | 1448 | A>T | No | Ensembl | |
| rs1470080284 | 1448 | A>V | No | gnomAD | |
| rs2151334211 | 1449 | V>D | No | Ensembl | |
| TCGA novel | 1449 | V>F | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs945398646 | 1449 | V>F | No |
TOPMed gnomAD |
|
| rs945398646 | 1449 | V>I | No |
TOPMed gnomAD |
|
| rs945398646 | 1449 | V>L | No |
TOPMed gnomAD |
|
| rs144832179 | 1450 | Y>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM88739 rs2151334185 |
1450 | Y>C | Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
|
COSM703034 rs1555473499 |
1450 | Y>D | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs1555473499 | 1450 | Y>N | No | Ensembl | |
| rs2151334185 | 1450 | Y>S | No | Ensembl | |
| rs2151334169 | 1451 | H>Q | No | Ensembl | |
| rs2052128135 | 1451 | H>R | No | TOPMed | |
| rs2151334177 | 1451 | H>Y | No | Ensembl | |
| rs2151334157 | 1452 | E>D | No | Ensembl | |
| rs2151334160 | 1452 | E>G | No | Ensembl | |
| rs2151334164 | 1452 | E>K | No | Ensembl | |
| rs2151334164 | 1452 | E>Q | No | Ensembl | |
| rs2151334160 | 1452 | E>V | No | Ensembl | |
| rs2151334147 | 1453 | I>M | No | Ensembl | |
|
rs1064795050 RCV000482966 COSM70300 CA16620204 |
1453 | I>T | ovary [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
| rs2052127969 | 1454 | L>F | No | Ensembl | |
| rs2052127893 | 1454 | L>H | No | gnomAD | |
| rs2052127893 | 1454 | L>R | No | gnomAD | |
| rs2052127969 | 1454 | L>V | No | Ensembl | |
| rs2151334113 | 1455 | I>N | No | Ensembl | |
| rs1419596850 | 1456 | G>* | No | gnomAD | |
| rs1419596850 | 1456 | G>R | No | gnomAD | |
| rs377694434 | 1457 | Y>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151334101 | 1457 | Y>N | No | Ensembl | |
| rs2151334088 | 1458 | L>* | No | Ensembl | |
| rs2151334088 | 1458 | L>S | No | Ensembl | |
| rs943250389 | 1459 | E>* | No | Ensembl | |
| rs943250389 | 1459 | E>K | No | Ensembl | |
| rs587783494 | 1459 | E>V | No | Ensembl | |
| rs2151334057 | 1461 | V>M | No | Ensembl | |
| rs2151334040 | 1462 | K>N | No | Ensembl | |
| rs766632314 | 1463 | K>T | No |
ExAC TOPMed gnomAD |
|
| rs2151334008 | 1464 | L>* | No | Ensembl | |
| rs2151334020 | 1464 | L>I | No | Ensembl | |
|
rs2052127299 RCV001200398 |
1465 | G>R | No |
ClinVar Ensembl dbSNP |
|
| rs1555473491 | 1465 | G>V | No | Ensembl | |
| rs2052127299 | 1465 | G>W | No | Ensembl | |
| rs2151330200 | 1466 | Y>D | No | Ensembl | |
| rs375004488 | 1466 | Y>F | No |
ESP TOPMed |
|
| rs2151330200 | 1466 | Y>H | No | Ensembl | |
| rs2151330200 | 1466 | Y>N | No | Ensembl | |
| rs2151330166 | 1467 | V>E | No | Ensembl | |
| rs2151330166 | 1467 | V>G | No | Ensembl | |
| rs2151330186 | 1467 | V>L | No | Ensembl | |
| rs2151330186 | 1467 | V>M | No | Ensembl | |
| rs542790843 | 1468 | T>I | No |
1000Genomes ExAC gnomAD |
|
| rs542790843 | 1468 | T>R | No |
1000Genomes ExAC gnomAD |
|
| rs2151330127 | 1469 | G>A | No | Ensembl | |
| rs2151330132 | 1469 | G>R | No | Ensembl | |
| rs2151330127 | 1469 | G>V | No | Ensembl | |
| rs2151330132 | 1469 | G>W | No | Ensembl | |
| rs2151330111 | 1470 | H>D | No | Ensembl | |
| rs797044860 | 1470 | H>L | No | Ensembl | |
| rs797044860 | 1470 | H>P | No | Ensembl | |
| rs2151330092 | 1470 | H>Q | No | Ensembl | |
| rs2151330111 | 1470 | H>Y | No | Ensembl | |
| rs2151330088 | 1471 | I>F | No | Ensembl | |
|
rs2151330073 COSM4851689 |
1471 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| COSM4060708 | 1471 | I>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2151330085 | 1471 | I>S | No | Ensembl | |
| TCGA novel | 1471 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151330060 | 1472 | W>* | No | Ensembl | |
| rs2151330051 | 1472 | W>* | No | Ensembl | |
|
COSM1196579 rs2151330051 |
1472 | W>C | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated Ensembl NCI-TCGA Cosmic |
| COSM1316916 | 1472 | W>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2151330066 | 1472 | W>R | No | Ensembl | |
|
rs2151330060 COSM1644511 |
1472 | W>S | NS Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs1596805927 | 1473 | A>P | No | Ensembl | |
| rs1596805927 | 1473 | A>S | No | Ensembl | |
| rs886042251 | 1474 | C>F | No | Ensembl | |
| rs2151330027 | 1474 | C>R | No | Ensembl | |
| rs886042251 | 1474 | C>S | No | Ensembl | |
| COSM970566 | 1474 | C>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000367950 rs886042251 CA10603990 |
1474 | C>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2151329999 | 1475 | P>A | No | Ensembl | |
| rs2151329994 | 1475 | P>L | No | Ensembl | |
| COSM5054883 | 1475 | P>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2151329999 | 1475 | P>S | No | Ensembl | |
| rs2151329977 | 1476 | P>A | No | Ensembl | |
|
COSM1377829 rs2151329964 |
1476 | P>L | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs2151329964 | 1476 | P>Q | No | Ensembl | |
|
COSM88740 rs2151329964 |
1476 | P>R | Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2151329977 | 1476 | P>S | No | Ensembl | |
| rs2151329952 | 1477 | S>C | No | Ensembl | |
| rs2151329952 | 1477 | S>G | No | Ensembl | |
| rs2151329941 | 1477 | S>I | No | Ensembl | |
| rs2151329933 | 1477 | S>R | No | Ensembl | |
| rs2151329941 | 1477 | S>T | No | Ensembl | |
| rs2151329922 | 1478 | E>* | No | Ensembl | |
| rs2151329912 | 1478 | E>D | No | Ensembl | |
|
rs2151329922 COSM3509554 |
1478 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2151329922 | 1478 | E>Q | No | Ensembl | |
| rs2151329919 | 1478 | E>V | No | Ensembl | |
| rs2151329901 | 1479 | G>A | No | Ensembl | |
| rs2151329901 | 1479 | G>E | No | Ensembl | |
| rs2151329901 | 1479 | G>V | No | Ensembl | |
| rs774292416 | 1480 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs2151329888 | 1480 | D>H | No | Ensembl | |
| rs2151329888 | 1480 | D>N | No | Ensembl | |
| rs2151329888 | 1480 | D>Y | No | Ensembl | |
| rs2151329858 | 1481 | D>A | No | Ensembl | |
|
RCV001590292 rs2151329858 |
1481 | D>G | No |
ClinVar Ensembl dbSNP |
|
| rs2151329871 | 1481 | D>H | No | Ensembl | |
| rs2151329871 | 1481 | D>N | No | Ensembl | |
| rs2151329858 | 1481 | D>V | No | Ensembl | |
| rs770813392 | 1482 | Y>* | No |
ExAC gnomAD |
|
|
COSM88741 rs587783495 |
1482 | Y>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
|
rs587783495 COSM220499 |
1482 | Y>N | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
| rs587783496 | 1482 | Y>S | No | Ensembl | |
| COSM3764560 | 1483 | I>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2052071961 | 1483 | I>M | No | TOPMed | |
|
rs201719835 COSM4170756 |
1483 | I>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
|
COSM166409 rs201719835 |
1483 | I>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
| rs2151329829 | 1483 | I>V | No | Ensembl | |
| rs2151329811 | 1484 | F>I | No | Ensembl | |
| rs749161149 | 1484 | F>L | No |
ExAC TOPMed gnomAD |
|
| COSM4170754 | 1484 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2151329793 | 1485 | H>Q | No | Ensembl | |
| rs2151329787 | 1486 | C>R | No | Ensembl | |
| rs2151329787 | 1486 | C>S | No | Ensembl | |
| rs2151329781 | 1486 | C>Y | No | Ensembl | |
| TCGA novel | 1487 | H>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1057519207 | 1487 | H>N | No | Ensembl | |
| rs2052071547 | 1487 | H>Q | No | TOPMed | |
| rs2151329743 | 1488 | P>A | No | Ensembl | |
|
COSM3356828 rs2151329734 |
1488 | P>L | Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| COSM5651884 | 1488 | P>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs2151329734 COSM220498 |
1488 | P>R | Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2151329743 | 1488 | P>S | No | Ensembl | |
| rs2151329743 | 1488 | P>T | No | Ensembl | |
| rs2151329710 | 1489 | P>L | No | Ensembl | |
| rs2151329710 | 1489 | P>R | No | Ensembl | |
| rs1303444757 | 1489 | P>S | No |
TOPMed gnomAD |
|
| rs1303444757 | 1489 | P>T | No |
TOPMed gnomAD |
|
| rs2151329686 | 1490 | D>E | No | Ensembl | |
| rs2151329696 | 1490 | D>H | No | Ensembl | |
| rs2151329696 | 1490 | D>N | No | Ensembl | |
| TCGA novel | 1490 | D>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151329696 | 1490 | D>Y | No | Ensembl | |
| rs201156486 | 1491 | Q>* | No | Ensembl | |
|
COSM4260243 rs201156486 |
1491 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
|
COSM166408 rs201156486 |
1491 | Q>K | Variant assessed as Somatic; MODERATE impact. central_nervous_system haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
| rs2151329672 | 1491 | Q>L | No | Ensembl | |
| rs2151329665 | 1492 | K>* | No | Ensembl | |
| rs2151329659 | 1492 | K>N | No | Ensembl | |
| rs1596805747 | 1493 | I>M | No | TOPMed | |
| TCGA novel | 1493 | I>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs199817036 | 1494 | P>A | No | Ensembl | |
| rs398124147 | 1494 | P>H | No | Ensembl | |
| rs398124147 | 1494 | P>L | No | Ensembl | |
|
rs398124147 CA222697 RCV000081053 |
1494 | P>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs199817036 | 1494 | P>T | No | Ensembl | |
| COSM970564 | 1495 | K>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2052070989 | 1495 | K>M | No | TOPMed | |
| rs2151329614 | 1495 | K>N | No | Ensembl | |
| rs2052070989 | 1495 | K>R | No | TOPMed | |
| rs2151329601 | 1496 | P>A | No | Ensembl | |
| rs2151329592 | 1496 | P>L | No | Ensembl | |
| rs2151329592 | 1496 | P>Q | No | Ensembl | |
| rs2151329592 | 1496 | P>R | No | Ensembl | |
| rs2151329601 | 1496 | P>S | No | Ensembl | |
| rs2151329601 | 1496 | P>T | No | Ensembl | |
| rs2151329580 | 1497 | K>* | No | Ensembl | |
| rs2151329580 | 1497 | K>E | No | Ensembl | |
| rs2052070843 | 1497 | K>I | No | Ensembl | |
| rs2151329563 | 1497 | K>N | No | Ensembl | |
| rs2052070843 | 1497 | K>R | No | Ensembl | |
| rs2052070843 | 1497 | K>T | No | Ensembl | |
| rs1567269945 | 1498 | R>L | No | Ensembl | |
| rs1567269945 | 1498 | R>P | No | Ensembl | |
|
COSM220497 rs2151329532 |
1499 | L>Q | Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
|
rs2151329514 COSM1377826 |
1500 | Q>* | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs2151329514 | 1500 | Q>E | No | Ensembl | |
| rs2151329497 | 1500 | Q>H | No | Ensembl | |
| rs2151329514 | 1500 | Q>K | No | Ensembl | |
|
rs2151329507 COSM1377825 |
1500 | Q>R | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs2151329487 | 1501 | E>* | No | Ensembl | |
| rs200425104 | 1501 | E>D | No |
1000Genomes ExAC gnomAD |
|
| rs2151329483 | 1501 | E>G | No | Ensembl | |
| rs2151329487 | 1501 | E>K | No | Ensembl | |
| rs2151329487 | 1501 | E>Q | No | Ensembl | |
|
COSM1301957 rs2151329444 COSM1377824 |
1502 | W>* | large_intestine urinary_tract [Cosmic] | No |
cosmic curated Ensembl |
|
COSM1301957 rs2151329455 COSM1377824 |
1502 | W>* | Variant assessed as Somatic; HIGH impact. large_intestine urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
|
COSM88753 rs2151329444 |
1502 | W>C | liver urinary_tract haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
| rs2151329460 | 1502 | W>G | No | Ensembl | |
| rs2151329455 | 1502 | W>L | No | Ensembl | |
| rs2151329460 | 1502 | W>R | No | Ensembl | |
|
CA394563542 rs1555473105 RCV000598406 |
1503 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs2151329435 COSM88743 |
1503 | Y>D | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
|
rs2151329435 COSM88744 |
1503 | Y>H | large_intestine haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
| rs2151329435 | 1503 | Y>N | No | Ensembl | |
|
COSM1161162 rs587783497 |
1503 | Y>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
| rs2151329406 | 1504 | K>E | No | Ensembl | |
| rs2151329401 | 1504 | K>I | No | Ensembl | |
| rs2151329406 | 1504 | K>Q | No | Ensembl | |
| rs2151329401 | 1504 | K>T | No | Ensembl | |
| rs2151329384 | 1505 | K>* | No | Ensembl | |
| rs2151329378 | 1505 | K>M | No | Ensembl | |
| rs2151329378 | 1505 | K>R | No | Ensembl | |
| TCGA novel | 1506 | M>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2052070248 | 1506 | M>I | No | gnomAD | |
| rs2151329364 | 1506 | M>K | No | Ensembl | |
| rs2151329373 | 1506 | M>L | No | Ensembl | |
| rs2151329349 | 1507 | L>M | No | Ensembl | |
| rs1057520191 | 1507 | L>Q | No | Ensembl | |
| rs2151329349 | 1507 | L>V | No | Ensembl | |
| rs2151329327 | 1508 | D>A | No | Ensembl | |
| rs1421200546 | 1508 | D>E | No | gnomAD | |
| rs2151329335 | 1508 | D>H | No | Ensembl | |
| rs2151329335 | 1508 | D>N | No | Ensembl | |
| rs2151329327 | 1508 | D>V | No | Ensembl | |
| rs2151329335 | 1508 | D>Y | No | Ensembl | |
| rs2151329317 | 1509 | K>* | No | Ensembl | |
| rs2151329309 | 1509 | K>M | No | Ensembl | |
| rs2052069959 | 1509 | K>N | No | TOPMed | |
| rs2151329309 | 1509 | K>R | No | Ensembl | |
| rs780939128 | 1510 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs780939128 | 1510 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs2151329292 | 1510 | A>P | No | Ensembl | |
| rs2151329292 | 1510 | A>S | No | Ensembl | |
| rs2151329292 | 1510 | A>T | No | Ensembl | |
| rs2151329257 | 1511 | F>C | No | Ensembl | |
| rs2151329266 | 1511 | F>I | No | Ensembl | |
| rs2151329266 | 1511 | F>L | No | Ensembl | |
| rs1596805619 | 1511 | F>L | No | Ensembl | |
| rs2151329257 | 1511 | F>S | No | Ensembl | |
| rs2151329266 | 1511 | F>V | No | Ensembl | |
| rs2151329257 | 1511 | F>Y | No | Ensembl | |
| rs2151329244 | 1512 | A>E | No | Ensembl | |
| rs2151329244 | 1512 | A>G | No | Ensembl | |
| rs2151329244 | 1512 | A>V | No | Ensembl | |
| rs2151329231 | 1513 | E>* | No | Ensembl | |
| rs2052069630 | 1513 | E>D | No | gnomAD | |
| rs2151329227 | 1513 | E>G | No | Ensembl | |
| rs2151329231 | 1513 | E>K | No | Ensembl | |
| rs2151329231 | 1513 | E>Q | No | Ensembl | |
| rs2151329227 | 1513 | E>V | No | Ensembl | |
| rs1471683943 | 1514 | R>G | No | gnomAD | |
| rs2151329210 | 1514 | R>L | No | Ensembl | |
| rs2151329210 | 1514 | R>Q | No | Ensembl | |
| rs1471683943 | 1514 | R>W | No | gnomAD | |
| rs2151329198 | 1515 | I>F | No | Ensembl | |
| rs2151329198 | 1515 | I>L | No | Ensembl | |
|
COSM970562 rs2151329183 |
1515 | I>M | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2151329194 | 1515 | I>N | No | Ensembl | |
| rs2151329194 | 1515 | I>S | No | Ensembl | |
| rs2151329174 | 1516 | I>F | No | Ensembl | |
| rs2151329174 | 1516 | I>L | No | Ensembl | |
| rs2151329169 | 1516 | I>N | No | Ensembl | |
| rs2151329169 | 1516 | I>T | No | Ensembl | |
| rs2151329174 | 1516 | I>V | No | Ensembl | |
| rs2151329147 | 1517 | H>D | No | Ensembl | |
| rs2151329135 | 1517 | H>Q | No | Ensembl | |
| rs2052069390 | 1517 | H>R | No | Ensembl | |
| rs2151329147 | 1517 | H>Y | No | Ensembl | |
| rs2151329125 | 1518 | D>A | No | Ensembl | |
| rs2151329120 | 1518 | D>E | No | Ensembl | |
| rs2151329130 | 1518 | D>H | No | Ensembl | |
| rs2151329130 | 1518 | D>N | No | Ensembl | |
| rs2151329125 | 1518 | D>V | No | Ensembl | |
| rs2151329130 | 1518 | D>Y | No | Ensembl | |
| rs2151329095 | 1519 | Y>* | No | Ensembl | |
|
COSM4060707 rs2151329108 |
1519 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2151329108 | 1519 | Y>F | No | Ensembl | |
| rs2151329115 | 1519 | Y>N | No | Ensembl | |
| rs2151329108 | 1519 | Y>S | No | Ensembl | |
| rs1375989552 | 1521 | D>G | No | gnomAD | |
| rs2151327969 | 1521 | D>H | No | Ensembl | |
| TCGA novel | 1521 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2052052848 | 1523 | F>L | No | Ensembl | |
| rs2151327958 | 1523 | F>V | No | Ensembl | |
| rs1395715531 | 1524 | K>R | No |
TOPMed gnomAD |
|
| rs1429346308 | 1525 | Q>P | No | gnomAD | |
| rs2151327931 | 1526 | A>S | No | Ensembl | |
| rs2151327927 | 1526 | A>V | No | Ensembl | |
| rs2151327913 | 1528 | E>V | No | Ensembl | |
| rs2151327906 | 1529 | D>H | No | Ensembl | |
| TCGA novel | 1529 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1462456786 | 1530 | R>K | No | gnomAD | |
| rs765050154 | 1530 | R>S | No |
ExAC gnomAD |
|
| TCGA novel | 1532 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151327878 | 1533 | S>R | No | Ensembl | |
| TCGA novel | 1535 | K>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1567269387 | 1535 | K>N | No | Ensembl | |
|
rs2151327865 RCV001780580 |
1536 | E>missing | No |
ClinVar dbSNP |
|
| rs776332449 | 1536 | E>G | No |
ExAC gnomAD |
|
| rs1567269379 | 1536 | E>K | No | Ensembl | |
| TCGA novel | 1537 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1301956 | 1539 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2052051707 | 1539 | Y>C | No | Ensembl | |
|
rs2151327825 RCV001532274 |
1541 | E>missing | No |
ClinVar dbSNP |
|
| COSM4060706 | 1542 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10604219 rs886042424 RCV000307657 |
1543 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM460549 | 1543 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs886042424 | 1543 | D>V | No | Ensembl | |
| TCGA novel | 1544 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151327806 | 1545 | W>* | No | Ensembl | |
| rs2151327806 | 1545 | W>C | No | Ensembl | |
| TCGA novel | 1545 | W>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2151327801 RCV001773928 |
1546 | P>L | No |
ClinVar Ensembl dbSNP |
|
| rs1294890894 | 1547 | N>S | No |
TOPMed gnomAD |
|
| COSM5990924 | 1550 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM352596 | 1550 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3888514 | 1551 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2151327776 | 1552 | S>N | No | Ensembl | |
| rs778375586 | 1558 | Q>E | No |
ExAC TOPMed gnomAD |
|
|
RCV001771352 rs2151327729 |
1559 | E>Q | No |
ClinVar Ensembl dbSNP |
|
| rs2052050450 | 1561 | E>K | No | Ensembl | |
|
rs2151327689 COSM96445 |
1563 | R>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
| rs2052050151 | 1564 | K>R | No | Ensembl | |
| rs2151327677 | 1565 | K>R | No | Ensembl | |
|
rs2151327661 TCGA novel |
1567 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
|
RCV001760654 rs2052050004 |
1567 | E>K | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1389817775 | 1568 | S>N | No |
TOPMed gnomAD |
|
| rs1166913428 | 1569 | T>A | No | gnomAD | |
| rs1166913428 | 1569 | T>P | No | gnomAD | |
| rs754986566 | 1570 | A>P | No |
ExAC gnomAD |
|
| rs754986566 | 1570 | A>T | No |
ExAC gnomAD |
|
| rs1440641808 | 1571 | A>S | No | gnomAD | |
| rs2151327622 | 1571 | A>V | No | Ensembl | |
| rs751793194 | 1572 | S>G | No |
ExAC gnomAD |
|
| rs1482422459 | 1573 | E>V | No | gnomAD | |
| rs2151327606 | 1574 | T>S | No | Ensembl | |
| rs201469680 | 1575 | T>A | No |
1000Genomes ExAC gnomAD |
|
| TCGA novel | 1575 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs201469680 | 1575 | T>P | No |
1000Genomes ExAC gnomAD |
|
| rs1567269207 | 1575 | T>S | No | Ensembl | |
| rs2151319827 | 1577 | G>A | No | Ensembl | |
| rs2151319827 | 1577 | G>D | No | Ensembl | |
| rs2151319827 | 1577 | G>V | No | Ensembl | |
| rs1409592843 | 1578 | S>C | No | gnomAD | |
| rs1409592843 | 1578 | S>G | No | gnomAD | |
| rs1200989578 | 1578 | S>I | No | gnomAD | |
| rs1200989578 | 1578 | S>N | No | gnomAD | |
| rs1409592843 | 1578 | S>R | No | gnomAD | |
| rs2151319796 | 1578 | S>R | No | Ensembl | |
| rs1200989578 | 1578 | S>T | No | gnomAD | |
|
COSM95589 rs746079826 |
1579 | Q>* | ovary [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
|
TCGA novel rs779136868 |
1579 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC TOPMed |
| rs746079826 | 1579 | Q>K | No |
ExAC TOPMed gnomAD |
|
| rs2151319767 | 1580 | G>A | No | Ensembl | |
| rs2151319776 | 1580 | G>C | No | Ensembl | |
| rs2151319767 | 1580 | G>D | No | Ensembl | |
| rs2151319776 | 1580 | G>R | No | Ensembl | |
|
TCGA novel rs2151319776 |
1580 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2151319767 | 1580 | G>V | No | Ensembl | |
| rs2051927798 | 1581 | D>E | No | Ensembl | |
| rs2151319743 | 1581 | D>G | No | Ensembl | |
| rs749048317 | 1581 | D>N | No |
ExAC gnomAD |
|
| rs2151319743 | 1581 | D>V | No | Ensembl | |
| rs1363001625 | 1582 | S>C | No | TOPMed | |
| rs1363001625 | 1582 | S>G | No | TOPMed | |
| rs2151319716 | 1582 | S>I | No | Ensembl | |
| rs2151319716 | 1582 | S>N | No | Ensembl | |
| rs2151319706 | 1582 | S>R | No | Ensembl | |
| rs2151319716 | 1582 | S>T | No | Ensembl | |
| rs2151319700 | 1583 | K>M | No | Ensembl | |
| rs753615659 | 1583 | K>N | No | gnomAD | |
| rs2151319679 | 1584 | N>I | No | Ensembl | |
| rs2151319668 | 1584 | N>K | No | Ensembl | |
| rs2151319684 | 1584 | N>Y | No | Ensembl | |
| rs2151319647 | 1585 | A>D | No | Ensembl | |
| rs2151319647 | 1585 | A>G | No | Ensembl | |
| rs2151319661 | 1585 | A>P | No | Ensembl | |
| rs2151319661 | 1585 | A>T | No | Ensembl | |
| rs2151319647 | 1585 | A>V | No | Ensembl | |
| rs2151319633 | 1586 | K>* | No | Ensembl | |
| rs2151319633 | 1586 | K>E | No | Ensembl | |
| rs2151319624 | 1586 | K>M | No | Ensembl | |
| rs2151319619 | 1587 | K>M | No | Ensembl | |
| rs2151319606 | 1588 | K>* | No | Ensembl | |
| rs2151319606 | 1588 | K>E | No | Ensembl | |
| rs1450303039 | 1588 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
gnomAD NCI-TCGA |
| rs2151319604 | 1588 | K>R | No | Ensembl | |
| rs2151319588 | 1589 | N>D | No | Ensembl | |
| rs2151319574 | 1590 | N>D | No | Ensembl | |
| rs2151319571 | 1590 | N>I | No | Ensembl | |
| rs1175096661 | 1590 | N>K | No | TOPMed | |
| TCGA novel | 1590 | N>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151319571 | 1590 | N>S | No | Ensembl | |
| rs2151319574 | 1590 | N>Y | No | Ensembl | |
| rs2151319554 | 1591 | K>* | No | Ensembl | |
|
rs2151319554 RCV001767695 |
1591 | K>E | No |
ClinVar Ensembl dbSNP |
|
| rs2151319537 | 1591 | K>M | No | Ensembl | |
| rs2151319523 | 1591 | K>N | No | Ensembl | |
| rs2151319520 | 1592 | K>* | No | Ensembl | |
| COSM1478867 | 1593 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1593 | T>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151319509 | 1593 | T>P | No | Ensembl | |
| rs2151319509 | 1593 | T>S | No | Ensembl | |
| rs777680039 | 1593 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs2151319495 | 1594 | N>I | No | Ensembl | |
| rs1567265977 | 1594 | N>K | No | TOPMed | |
| rs2151319495 | 1594 | N>S | No | Ensembl | |
| rs2151319483 | 1595 | K>* | No | Ensembl | |
| rs2151319479 | 1595 | K>M | No | Ensembl | |
| rs756168863 | 1595 | K>N | No |
ExAC gnomAD |
|
| rs2151319455 | 1596 | N>I | No | Ensembl | |
| rs2151319455 | 1596 | N>S | No | Ensembl | |
| rs2151319467 | 1596 | N>Y | No | Ensembl | |
| rs2151319445 | 1597 | K>I | No | Ensembl | |
| rs2051926717 | 1598 | S>C | No | TOPMed | |
| rs2051926717 | 1598 | S>G | No | TOPMed | |
| rs2051926633 | 1598 | S>N | No | Ensembl | |
| rs2151319415 | 1598 | S>R | No | Ensembl | |
| rs766942126 | 1599 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs766942126 | 1599 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs2051926451 | 1599 | S>I | No | TOPMed | |
| rs2051926451 | 1599 | S>N | No | TOPMed | |
| rs2151319387 | 1599 | S>R | No | Ensembl | |
| rs2051926451 | 1599 | S>T | No | TOPMed | |
| rs2151319378 | 1600 | I>F | No | Ensembl | |
| rs2151319378 | 1600 | I>L | No | Ensembl | |
| rs2151319366 | 1600 | I>M | No | Ensembl | |
| rs1225470937 | 1600 | I>N | No | gnomAD | |
| rs1225470937 | 1600 | I>S | No | gnomAD | |
| rs1225470937 | 1600 | I>T | No | gnomAD | |
| rs2151319358 | 1601 | S>C | No | Ensembl | |
| rs2151319358 | 1601 | S>G | No | Ensembl | |
| rs2151319346 | 1601 | S>I | No | Ensembl | |
| rs2151319346 | 1601 | S>N | No | Ensembl | |
| rs754454362 | 1601 | S>R | No |
ExAC gnomAD |
|
| rs2151319346 | 1601 | S>T | No | Ensembl | |
|
COSM4060704 rs2151319330 |
1602 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2151319330 | 1602 | R>G | No | Ensembl | |
| rs1274540523 | 1602 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1274540523 | 1602 | R>L | No |
TOPMed gnomAD |
|
| rs1274540523 | 1602 | R>P | No |
TOPMed gnomAD |
|
| rs765976832 | 1603 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs765976832 | 1603 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs375557093 | 1603 | A>P | No |
ESP ExAC TOPMed gnomAD |
|
|
rs375557093 COSM1172330 |
1603 | A>S | oesophagus [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs375557093 | 1603 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs765976832 | 1603 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs2151319275 | 1604 | N>I | No | Ensembl | |
| rs762565460 | 1604 | N>K | No |
ExAC gnomAD |
|
| rs2151319275 | 1604 | N>T | No | Ensembl | |
| rs2151319260 | 1605 | K>* | No | Ensembl | |
| rs2151319257 | 1605 | K>M | No | Ensembl | |
| rs1386399570 | 1605 | K>N | No | gnomAD | |
| rs2151319250 | 1606 | K>E | No | Ensembl | |
| rs2151319242 | 1606 | K>M | No | Ensembl | |
| rs2151319228 | 1606 | K>N | No | Ensembl | |
|
COSM3771943 rs2151319242 |
1606 | K>R | pancreas [Cosmic] | No |
cosmic curated Ensembl |
| rs1235526533 | 1607 | K>M | No | TOPMed | |
| rs2151319209 | 1607 | K>N | No | Ensembl | |
| rs1376621379 | 1607 | K>Q | No | TOPMed | |
| rs1235526533 | 1607 | K>R | No | TOPMed | |
| rs1235526533 | 1607 | K>T | No | TOPMed | |
| rs2151319197 | 1608 | P>H | No | Ensembl | |
| rs2151319197 | 1608 | P>L | No | Ensembl | |
| rs2151319197 | 1608 | P>R | No | Ensembl | |
|
COSM178786 rs73491901 |
1608 | P>S | large_intestine [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| rs2151319176 | 1609 | S>I | No | Ensembl | |
|
TCGA novel rs2151319176 |
1609 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2051925439 | 1609 | S>R | No | TOPMed | |
| rs1034828767 | 1609 | S>R | No | TOPMed | |
| rs2151319176 | 1609 | S>T | No | Ensembl | |
| rs2151319141 | 1610 | M>I | No | Ensembl | |
| rs2151319151 | 1610 | M>K | No | Ensembl | |
| rs2151319158 | 1610 | M>L | No | Ensembl | |
| rs2151319151 | 1610 | M>T | No | Ensembl | |
| rs2151319158 | 1610 | M>V | No | Ensembl | |
| rs2151319129 | 1611 | P>A | No | Ensembl | |
| rs2151319123 | 1611 | P>H | No | Ensembl | |
| rs2151319123 | 1611 | P>L | No | Ensembl | |
| rs2151319123 | 1611 | P>R | No | Ensembl | |
| rs2151319129 | 1611 | P>S | No | Ensembl | |
| rs2151319129 | 1611 | P>T | No | Ensembl | |
| rs764431514 | 1612 | N>I | No |
ExAC TOPMed gnomAD |
|
| rs1170224083 | 1612 | N>K | No |
TOPMed gnomAD |
|
| rs764431514 | 1612 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs764431514 | 1612 | N>T | No |
ExAC TOPMed gnomAD |
|
| rs2151319083 | 1613 | V>A | No | Ensembl | |
| rs2151319083 | 1613 | V>E | No | Ensembl | |
| rs766085073 | 1613 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs2151319068 | 1614 | S>A | No | Ensembl | |
| rs2051924989 | 1614 | S>C | No | gnomAD | |
| rs2051924989 | 1614 | S>F | No | gnomAD | |
|
COSM280129 rs2151319068 |
1614 | S>P | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2151319068 | 1614 | S>T | No | Ensembl | |
| rs2051924989 | 1614 | S>Y | No | gnomAD | |
| rs372308925 | 1615 | N>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151319041 | 1615 | N>K | No | Ensembl | |
| rs372308925 | 1615 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs372308925 | 1615 | N>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs2051924831 | 1616 | D>E | No |
TOPMed gnomAD |
|
| rs2151319030 | 1616 | D>H | No | Ensembl | |
| rs2151319030 | 1616 | D>N | No | Ensembl | |
| rs2151319013 | 1617 | L>M | No | Ensembl | |
| rs2151319005 | 1617 | L>P | No | Ensembl | |
| rs2151319005 | 1617 | L>Q | No | Ensembl | |
| rs2151319013 | 1617 | L>V | No | Ensembl | |
| rs2151318987 | 1618 | S>A | No | Ensembl | |
| rs2151318981 | 1618 | S>C | No | Ensembl | |
| rs2151318981 | 1618 | S>F | No | Ensembl | |
| rs2151318987 | 1618 | S>P | No | Ensembl | |
| rs2151318987 | 1618 | S>T | No | Ensembl | |
| rs2151318981 | 1618 | S>Y | No | Ensembl | |
| rs2151318954 | 1619 | Q>* | No | Ensembl | |
| rs2151318954 | 1619 | Q>E | No | Ensembl | |
| rs2151318945 | 1619 | Q>H | No | Ensembl | |
| rs2151318954 | 1619 | Q>K | No | Ensembl | |
| rs2151318934 | 1620 | K>* | No | Ensembl | |
| rs2151318934 | 1620 | K>E | No | Ensembl | |
| rs2151318930 | 1620 | K>M | No | Ensembl | |
| rs2051924767 | 1620 | K>N | No | TOPMed | |
| rs2151318930 | 1620 | K>R | No | Ensembl | |
| rs368186457 | 1621 | L>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151318907 | 1621 | L>P | No | Ensembl | |
| rs2151318907 | 1621 | L>Q | No | Ensembl | |
| rs368186457 | 1621 | L>V | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM88754 rs2151318874 |
1622 | Y>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
| rs2151318881 | 1622 | Y>D | No | Ensembl | |
| rs2151318874 | 1622 | Y>F | No | Ensembl | |
|
rs2151318881 COSM3817962 |
1622 | Y>H | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2151318881 | 1622 | Y>N | No | Ensembl | |
| rs2151318851 | 1623 | A>D | No | Ensembl | |
| rs2151318851 | 1623 | A>G | No | Ensembl | |
| rs1246776885 | 1623 | A>P | No | gnomAD | |
| rs1246776885 | 1623 | A>T | No | gnomAD | |
|
TCGA novel rs2151318851 |
1623 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2151318835 | 1624 | T>I | No | Ensembl | |
| rs2151318835 | 1624 | T>S | No | Ensembl | |
| rs2151318817 | 1625 | M>I | No | Ensembl | |
| rs2151318824 | 1625 | M>K | No | Ensembl | |
|
COSM96467 rs771317810 |
1625 | M>L | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated ExAC gnomAD |
|
rs2151318824 COSM1377819 |
1625 | M>T | oesophagus large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| COSM220500 | 1625 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2151318807 | 1626 | E>* | No | Ensembl | |
| rs2151318797 | 1626 | E>D | No | Ensembl | |
| rs2151318807 | 1626 | E>K | No | Ensembl | |
| rs2151318807 | 1626 | E>Q | No | Ensembl | |
| rs2151318789 | 1627 | K>* | No | Ensembl | |
| rs2151318778 | 1627 | K>N | No | Ensembl | |
| rs2151318768 | 1628 | H>D | No | Ensembl | |
| rs2151318758 | 1628 | H>L | No | Ensembl | |
| rs2151318768 | 1628 | H>N | No | Ensembl | |
| rs2151318758 | 1628 | H>P | No | Ensembl | |
| rs1278014470 | 1628 | H>Q | No | gnomAD | |
| rs2151318758 | 1628 | H>R | No | Ensembl | |
| rs2151318768 | 1628 | H>Y | No | Ensembl | |
| rs2151318745 | 1629 | K>* | No | Ensembl | |
| rs2151318745 | 1629 | K>E | No | Ensembl | |
| rs2051924278 | 1629 | K>N | No | Ensembl | |
| rs2151318725 | 1630 | E>* | No | Ensembl | |
| rs2151318725 | 1630 | E>K | No | Ensembl | |
| rs2151318725 | 1630 | E>Q | No | Ensembl | |
| rs2151318718 | 1630 | E>V | No | Ensembl | |
| rs2151317708 | 1631 | V>F | No | Ensembl | |
| rs2151317708 | 1631 | V>I | No | Ensembl | |
| rs2151317708 | 1631 | V>L | No | Ensembl | |
| rs2051914114 | 1632 | F>C | No | TOPMed | |
| rs587783501 | 1632 | F>I | No | Ensembl | |
| rs757841480 | 1632 | F>L | No |
ExAC gnomAD |
|
| rs2051914114 | 1632 | F>S | No | TOPMed | |
| rs587783501 | 1632 | F>V | No | Ensembl | |
| TCGA novel | 1633 | F>D | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151317673 | 1633 | F>I | No | Ensembl | |
| rs2151317673 | 1633 | F>L | No | Ensembl | |
| rs750086197 | 1633 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs2151317670 | 1633 | F>S | No | Ensembl | |
|
rs2151317636 COSM970560 |
1634 | V>A | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2151317636 | 1634 | V>E | No | Ensembl | |
| rs2151317636 | 1634 | V>G | No | Ensembl | |
| rs2051913831 | 1634 | V>L | No | gnomAD | |
|
rs2051913831 COSM4060703 |
1634 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic gnomAD |
| rs2151317606 | 1635 | I>M | No | Ensembl | |
| rs2151317613 | 1635 | I>N | No | Ensembl | |
| rs2151317613 | 1635 | I>T | No | Ensembl | |
| rs2151317621 | 1635 | I>V | No | Ensembl | |
| rs1222081557 | 1636 | H>P | No |
TOPMed gnomAD |
|
| rs945676155 | 1636 | H>Q | No | gnomAD | |
| rs1222081557 | 1636 | H>R | No |
TOPMed gnomAD |
|
| rs1041379163 | 1636 | H>Y | No |
TOPMed gnomAD |
|
| rs2151317583 | 1637 | L>M | No | Ensembl | |
| rs2151317566 | 1637 | L>P | No | Ensembl | |
| rs2151317566 | 1637 | L>Q | No | Ensembl | |
| rs2151317566 | 1637 | L>R | No | Ensembl | |
| rs1225386297 | 1638 | H>L | No | gnomAD | |
| rs1225386297 | 1638 | H>P | No | gnomAD | |
| rs756464003 | 1638 | H>Q | No |
ExAC TOPMed gnomAD |
|
|
rs1225386297 RCV001758730 |
1638 | H>R | No |
ClinVar dbSNP gnomAD |
|
| rs778484873 | 1638 | H>Y | No |
ExAC gnomAD |
|
| rs770154926 | 1639 | A>P | No |
TOPMed gnomAD |
|
| rs770154926 | 1639 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs770154926 | 1639 | A>T | No |
TOPMed gnomAD |
|
| rs2151317536 | 1639 | A>V | No | Ensembl | |
| rs2151317511 | 1640 | G>A | No | Ensembl | |
| rs2151317511 | 1640 | G>E | No | Ensembl | |
| rs2151317518 | 1640 | G>R | No | Ensembl | |
| rs2151317511 | 1640 | G>V | No | Ensembl | |
| rs2151317518 | 1640 | G>W | No | Ensembl | |
| rs2151317478 | 1641 | P>H | No | Ensembl | |
| rs2151317478 | 1641 | P>L | No | Ensembl | |
| rs753142151 | 1641 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs2151317457 | 1642 | V>A | No | Ensembl | |
| rs2151317457 | 1642 | V>D | No | Ensembl | |
| rs2151317464 | 1642 | V>F | No | Ensembl | |
| rs2151317457 | 1642 | V>G | No | Ensembl | |
| rs2151317464 | 1642 | V>I | No | Ensembl | |
| rs2151317464 | 1642 | V>L | No | Ensembl | |
| rs547109428 | 1643 | I>F | No |
1000Genomes ExAC gnomAD |
|
| rs547109428 | 1643 | I>L | No |
1000Genomes ExAC gnomAD |
|
| rs2151317424 | 1643 | I>M | No | Ensembl | |
| rs2151317431 | 1643 | I>N | No | Ensembl | |
| rs2151317431 | 1643 | I>S | No | Ensembl | |
| rs2151317431 | 1643 | I>T | No | Ensembl | |
| rs547109428 | 1643 | I>V | No |
1000Genomes ExAC gnomAD |
|
| rs2151317413 | 1644 | N>D | No | Ensembl | |
| rs2151317413 | 1644 | N>H | No | Ensembl | |
| rs1293725394 | 1644 | N>I | No | gnomAD | |
| rs1293725394 | 1644 | N>S | No | gnomAD | |
| rs1293725394 | 1644 | N>T | No | gnomAD | |
| rs2151317413 | 1644 | N>Y | No | Ensembl | |
| rs2151317392 | 1645 | T>A | No | Ensembl | |
| rs2051913083 | 1645 | T>I | No | Ensembl | |
| rs2051913083 | 1645 | T>N | No | Ensembl | |
| rs2151317392 | 1645 | T>P | No | Ensembl | |
| rs2151317392 | 1645 | T>S | No | Ensembl | |
| rs1349650323 | 1646 | L>M | No |
TOPMed gnomAD |
|
| rs2151317368 | 1646 | L>P | No | Ensembl | |
| rs2151317368 | 1646 | L>Q | No | Ensembl | |
| rs2151317368 | 1646 | L>R | No | Ensembl | |
| TCGA novel | 1646 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs760145292 | 1647 | P>L | No |
ExAC gnomAD |
|
| rs760145292 | 1647 | P>R | No |
ExAC gnomAD |
|
| rs2051912881 | 1647 | P>S | No | TOPMed | |
| rs2051912670 | 1648 | P>A | No | Ensembl | |
| rs1181588652 | 1648 | P>L | No | gnomAD | |
|
rs1181588652 RCV001806528 |
1648 | P>R | No |
ClinVar dbSNP gnomAD |
|
| rs2051912670 | 1648 | P>S | No | Ensembl | |
| rs2051912670 | 1648 | P>T | No | Ensembl | |
| TCGA novel | 1649 | I>H | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs770096963 | 1649 | I>L | No |
ExAC gnomAD |
|
| rs761920015 | 1649 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs2151317293 | 1649 | I>N | No | Ensembl | |
| rs2151317293 | 1649 | I>S | No | Ensembl | |
| rs2151317293 | 1649 | I>T | No | Ensembl | |
| rs2151317268 | 1650 | V>A | No | Ensembl | |
| rs2151317268 | 1650 | V>D | No | Ensembl | |
| rs776549587 | 1650 | V>F | No |
ExAC TOPMed gnomAD |
|
| rs2151317268 | 1650 | V>G | No | Ensembl | |
| rs776549587 | 1650 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs2151317239 | 1651 | D>A | No | Ensembl | |
| rs768334495 | 1651 | D>E | No |
ExAC gnomAD |
|
| rs2151317239 | 1651 | D>G | No | Ensembl | |
| rs1488071616 | 1651 | D>H | No |
TOPMed gnomAD |
|
|
rs1488071616 COSM178784 |
1651 | D>N | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA TOPMed gnomAD |
| rs2151317239 | 1651 | D>V | No | Ensembl | |
| rs1488071616 | 1651 | D>Y | No |
TOPMed gnomAD |
|
| rs2151317217 | 1652 | P>H | No | Ensembl | |
| rs2151317217 | 1652 | P>L | No | Ensembl | |
| rs2151317217 | 1652 | P>R | No | Ensembl | |
| rs2151317226 | 1652 | P>T | No | Ensembl | |
| rs2151317195 | 1653 | D>A | No | Ensembl | |
| rs2151317195 | 1653 | D>G | No | Ensembl | |
| rs1329802754 | 1653 | D>N | No | gnomAD | |
| rs2151317185 | 1654 | P>L | No | Ensembl | |
| rs2151317185 | 1654 | P>R | No | Ensembl | |
| rs1019491789 | 1654 | P>S | No | Ensembl | |
| rs2151317162 | 1656 | L>F | No | Ensembl | |
| rs1301614704 | 1656 | L>H | No |
TOPMed gnomAD |
|
| rs1301614704 | 1656 | L>P | No |
TOPMed gnomAD |
|
| rs2151317162 | 1656 | L>V | No | Ensembl | |
| rs2151317148 | 1657 | S>C | No | Ensembl | |
| rs2151317148 | 1657 | S>G | No | Ensembl | |
| rs2151317138 | 1657 | S>I | No | Ensembl | |
| rs2151317138 | 1657 | S>N | No | Ensembl | |
| rs2151317148 | 1657 | S>R | No | Ensembl | |
| rs2151317130 | 1657 | S>R | No | Ensembl | |
| rs2151317138 | 1657 | S>T | No | Ensembl | |
| rs2151317115 | 1658 | C>* | No | Ensembl | |
| rs1366429149 | 1658 | C>F | No |
TOPMed gnomAD |
|
| rs2151317124 | 1658 | C>R | No | Ensembl | |
| rs2151317124 | 1658 | C>S | No | Ensembl | |
| rs1366429149 | 1658 | C>S | No |
TOPMed gnomAD |
|
|
TCGA novel rs2151317115 |
1658 | C>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs1366429149 | 1658 | C>Y | No |
TOPMed gnomAD |
|
| rs2151317095 | 1659 | D>A | No | Ensembl | |
| rs2051911274 | 1659 | D>E | No | TOPMed | |
| rs2151317095 | 1659 | D>G | No | Ensembl | |
| rs2151317104 | 1659 | D>H | No | Ensembl | |
| rs2151317104 | 1659 | D>N | No | Ensembl | |
| rs2151317095 | 1659 | D>V | No | Ensembl | |
| rs2151317104 | 1659 | D>Y | No | Ensembl | |
| rs1364972669 | 1660 | L>F | No | gnomAD | |
| rs1364972669 | 1660 | L>I | No | gnomAD | |
| rs1364972669 | 1660 | L>V | No | gnomAD | |
|
rs2151317050 TCGA novel |
1661 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2151317061 | 1661 | M>L | No | Ensembl | |
| COSM4060701 | 1661 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2151317038 | 1662 | D>H | No | Ensembl | |
| rs2151317038 | 1662 | D>N | No | Ensembl | |
| rs2151317038 | 1662 | D>Y | No | Ensembl | |
| COSM417011 | 1664 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1170833164 | 1664 | R>G | No |
TOPMed gnomAD |
|
| rs2151317003 | 1665 | D>A | No | Ensembl | |
| rs748878152 | 1665 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs2151317003 | 1665 | D>G | No | Ensembl | |
| rs866562993 | 1665 | D>H | No | Ensembl | |
|
rs866562993 COSM6005471 |
1665 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2151317003 | 1665 | D>V | No | Ensembl | |
| rs866562993 | 1665 | D>Y | No | Ensembl | |
|
RCV001754613 rs1159046430 |
1666 | A>P | No |
ClinVar dbSNP gnomAD |
|
| rs1159046430 | 1666 | A>S | No | gnomAD | |
|
rs1159046430 COSM970558 |
1666 | A>T | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
rs2151316980 TCGA novel |
1666 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2151316962 | 1667 | F>I | No | Ensembl | |
| rs781667503 | 1667 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs2151316962 | 1667 | F>L | No | Ensembl | |
| rs2151316959 | 1667 | F>S | No | Ensembl | |
| rs2151316962 | 1667 | F>V | No | Ensembl | |
| rs2151316945 | 1668 | L>H | No | Ensembl | |
| rs2151316945 | 1668 | L>P | No | Ensembl | |
| rs2151316931 | 1669 | T>I | No | Ensembl | |
| rs2151316941 | 1669 | T>P | No | Ensembl | |
| rs2151316941 | 1669 | T>S | No | Ensembl | |
| rs2151316931 | 1669 | T>S | No | Ensembl | |
| rs2151316926 | 1670 | L>H | No | Ensembl | |
| rs2151316926 | 1670 | L>P | No | Ensembl | |
| rs2151316904 | 1671 | A>D | No | Ensembl | |
| rs2151316904 | 1671 | A>G | No | Ensembl | |
| rs2151316910 | 1671 | A>P | No | Ensembl | |
| rs2151316910 | 1671 | A>S | No | Ensembl | |
|
TCGA novel rs2151316904 |
1671 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2151316883 | 1672 | R>I | No | Ensembl | |
| rs2151316883 | 1672 | R>K | No | Ensembl | |
| rs2151316872 | 1672 | R>S | No | Ensembl | |
| rs2151316883 | 1672 | R>T | No | Ensembl | |
| rs2151316855 | 1673 | D>A | No | Ensembl | |
| rs1352711836 | 1673 | D>E | No |
TOPMed gnomAD |
|
| rs2151316855 | 1673 | D>G | No | Ensembl | |
| rs2151316864 | 1673 | D>H | No | Ensembl | |
| rs2151316864 | 1673 | D>N | No | Ensembl | |
| rs2151316855 | 1673 | D>V | No | Ensembl | |
| rs2151316842 | 1674 | K>* | No | Ensembl | |
| rs2151316842 | 1674 | K>E | No | Ensembl | |
| rs2151316837 | 1674 | K>M | No | Ensembl | |
| rs1176795125 | 1674 | K>N | No | gnomAD | |
| rs2151316837 | 1674 | K>R | No | Ensembl | |
| rs2151316824 | 1675 | H>D | No | Ensembl | |
| rs2151316819 | 1675 | H>L | No | Ensembl | |
| rs2151316819 | 1675 | H>P | No | Ensembl | |
| rs2151316810 | 1675 | H>Q | No | Ensembl | |
| rs2151316824 | 1675 | H>Y | No | Ensembl | |
| rs797045495 | 1676 | W>L | No | Ensembl | |
| TCGA novel | 1676 | W>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel rs2151316802 |
1676 | W>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs797045495 | 1676 | W>S | No | Ensembl | |
| rs2051909934 | 1677 | E>D | No | Ensembl | |
| rs2151316784 | 1677 | E>K | No | Ensembl | |
| rs2151316784 | 1677 | E>Q | No | Ensembl | |
| rs2151316754 | 1678 | F>C | No | Ensembl | |
| rs2151316759 | 1678 | F>I | No | Ensembl | |
| rs752125051 | 1678 | F>L | No |
ExAC gnomAD |
|
| rs2151316759 | 1678 | F>L | No | Ensembl | |
| rs2151316754 | 1678 | F>S | No | Ensembl | |
| rs2151316759 | 1678 | F>V | No | Ensembl | |
| rs2151316754 | 1678 | F>Y | No | Ensembl | |
| rs2151316731 | 1679 | S>C | No | Ensembl | |
| rs2151316731 | 1679 | S>F | No | Ensembl | |
| rs2151316740 | 1679 | S>P | No | Ensembl | |
| rs2151316731 | 1679 | S>Y | No | Ensembl | |
|
rs587783502 COSM291735 |
1680 | S>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs1445723787 | 1680 | S>C | No | TOPMed | |
|
RCV001538643 rs1445723787 |
1680 | S>F | No |
ClinVar TOPMed dbSNP |
|
| rs1445723787 | 1680 | S>Y | No | TOPMed | |
| rs2151316683 | 1681 | L>* | No | Ensembl | |
| rs2151316675 | 1681 | L>F | No | Ensembl | |
| TCGA novel | 1681 | L>F | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151316696 | 1681 | L>M | No | Ensembl | |
| rs2151316683 | 1681 | L>S | No | Ensembl | |
|
rs200112956 COSM970556 |
1682 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes NCI-TCGA gnomAD |
| rs200112956 | 1682 | R>G | No |
1000Genomes gnomAD |
|
| rs1190311671 | 1682 | R>H | No | gnomAD | |
| rs1190311671 | 1682 | R>L | No | gnomAD | |
| rs1190311671 | 1682 | R>P | No | gnomAD | |
| rs200112956 | 1682 | R>S | No |
1000Genomes gnomAD |
|
| rs766953370 | 1683 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs766953370 | 1683 | R>G | No |
ExAC TOPMed gnomAD |
|
|
COSM178783 rs1247401109 |
1683 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA gnomAD |
| COSM3957564 | 1683 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1555471841 | 1684 | S>C | No | Ensembl | |
| rs1555471841 | 1684 | S>F | No | Ensembl | |
| rs587783503 | 1684 | S>T | No | Ensembl | |
| rs1372651022 | 1685 | K>M | No | Ensembl | |
| rs2051908982 | 1685 | K>N | No | TOPMed | |
| rs1372651022 | 1685 | K>R | No | Ensembl | |
| rs2151316573 | 1686 | W>* | No | Ensembl | |
| rs2151316561 | 1686 | W>* | No | Ensembl | |
| rs2151316561 | 1686 | W>C | No | Ensembl | |
| rs2151316584 | 1686 | W>G | No | Ensembl | |
| rs2151316573 | 1686 | W>L | No | Ensembl | |
| rs2151316584 | 1686 | W>R | No | Ensembl | |
| rs2151316573 | 1686 | W>S | No | Ensembl | |
| rs61731407 | 1687 | S>A | No | Ensembl | |
| rs2151316542 | 1687 | S>C | No | Ensembl | |
| rs61731407 | 1687 | S>T | No | Ensembl | |
| rs2151316542 | 1687 | S>Y | No | Ensembl | |
| rs1596791850 | 1688 | T>A | No | TOPMed | |
|
rs781364836 COSM3817961 |
1688 | T>M | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
| rs781364836 | 1688 | T>R | No | Ensembl | |
|
rs2151316529 COSM96462 |
1689 | L>F | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
| rs2151316521 | 1689 | L>H | No | Ensembl | |
| rs2151316521 | 1689 | L>P | No | Ensembl | |
| rs2151316503 | 1690 | C>F | No | Ensembl | |
| rs2151316511 | 1690 | C>R | No | Ensembl | |
| rs2151316511 | 1690 | C>S | No | Ensembl | |
| rs2151316503 | 1690 | C>S | No | Ensembl | |
| rs2151316496 | 1690 | C>W | No | Ensembl | |
| rs2151316503 | 1690 | C>Y | No | Ensembl | |
| rs2151316473 | 1691 | M>I | No | Ensembl | |
| rs2151316482 | 1691 | M>K | No | Ensembl | |
| rs1231818807 | 1691 | M>V | No | gnomAD | |
| rs2151316461 | 1692 | L>M | No | Ensembl | |
| rs2151316455 | 1692 | L>P | No | Ensembl | |
| rs2151316455 | 1692 | L>Q | No | Ensembl | |
| rs2151316461 | 1692 | L>V | No | Ensembl | |
| rs2151316437 | 1693 | V>L | No | Ensembl | |
| rs2151316437 | 1693 | V>M | No | Ensembl | |
| rs2151316426 | 1695 | L>M | No | Ensembl | |
| rs2051908382 | 1695 | L>P | No | TOPMed | |
| rs2051908382 | 1695 | L>Q | No | TOPMed | |
| rs2151316426 | 1695 | L>V | No | Ensembl | |
|
RCV001760818 rs2151316400 |
1696 | H>D | No |
ClinVar Ensembl dbSNP |
|
| rs2151316393 | 1696 | H>L | No | Ensembl | |
| rs2151316393 | 1696 | H>P | No | Ensembl | |
|
rs1567265249 RCV000762183 |
1696 | H>Q | No |
ClinVar Ensembl dbSNP |
|
|
rs2151316393 COSM268947 |
1696 | H>R | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2151316400 | 1696 | H>Y | No | Ensembl | |
| rs2151316374 | 1697 | T>A | No | Ensembl | |
| rs1273951365 | 1697 | T>I | No | Ensembl | |
| rs2151316374 | 1697 | T>P | No | Ensembl | |
| rs2151316374 | 1697 | T>S | No | Ensembl | |
| rs1273951365 | 1697 | T>S | No | Ensembl | |
| rs2151316343 | 1698 | Q>* | No | Ensembl | |
| rs2151316343 | 1698 | Q>E | No | Ensembl | |
| rs2151316343 | 1698 | Q>K | No | Ensembl | |
| rs2151316336 | 1698 | Q>R | No | Ensembl | |
| rs2151316309 | 1699 | G>A | No | Ensembl | |
|
TCGA novel rs2151316318 |
1699 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2151316309 | 1699 | G>D | No | Ensembl | |
| rs2151316318 | 1699 | G>R | No | Ensembl | |
| rs2151316318 | 1699 | G>S | No | Ensembl | |
| rs2151316309 | 1699 | G>V | No | Ensembl | |
| rs2151316294 | 1700 | Q>* | No | Ensembl | |
| rs2151316294 | 1700 | Q>E | No | Ensembl | |
| rs1366360557 | 1700 | Q>H | No |
TOPMed gnomAD |
|
| rs2151316271 | 1701 | D>A | No | Ensembl | |
| rs2151316264 | 1701 | D>E | No | Ensembl | |
| rs2151316271 | 1701 | D>G | No | Ensembl | |
| rs2151316281 | 1701 | D>H | No | Ensembl | |
| rs2151316281 | 1701 | D>N | No | Ensembl | |
| rs2151316271 | 1701 | D>V | No | Ensembl | |
| rs2151316281 | 1701 | D>Y | No | Ensembl | |
|
TCGA novel rs2151316255 |
1702 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2151316255 | 1702 | R>G | No | Ensembl | |
| rs1275659601 | 1702 | R>H | No | TOPMed | |
| rs1275659601 | 1702 | R>P | No | TOPMed | |
| rs2151316255 | 1702 | R>S | No | Ensembl | |
| rs2151316227 | 1703 | F>C | No | Ensembl | |
| rs2151316236 | 1703 | F>I | No | Ensembl | |
| rs2151316219 | 1703 | F>L | No | Ensembl | |
| rs2151316236 | 1703 | F>L | No | Ensembl | |
| rs2151316236 | 1703 | F>V | No | Ensembl | |
| rs2151316227 | 1703 | F>Y | No | Ensembl | |
| rs2151316206 | 1704 | V>D | No | Ensembl | |
| rs2151316206 | 1704 | V>G | No | Ensembl | |
| rs200287696 | 1705 | Y>* | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2151316185 | 1705 | Y>C | No | Ensembl | |
| rs2151316185 | 1705 | Y>F | No | Ensembl | |
| rs2151316194 | 1705 | Y>H | No | Ensembl | |
| rs2151316194 | 1705 | Y>N | No | Ensembl | |
| rs2151316185 | 1705 | Y>S | No | Ensembl | |
| rs2151316161 | 1706 | T>I | No | Ensembl | |
| rs2151316168 | 1706 | T>P | No | Ensembl | |
| rs2151316168 | 1706 | T>S | No | Ensembl | |
| rs2151316161 | 1706 | T>S | No | Ensembl | |
| rs1064795089 | 1707 | C>F | No | Ensembl | |
| rs2151316142 | 1707 | C>R | No | Ensembl | |
|
rs1064795089 CA16620203 RCV000486926 |
1707 | C>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2151316142 | 1707 | C>S | No | Ensembl | |
| rs2151316122 | 1707 | C>W | No | Ensembl | |
| rs1064795089 | 1707 | C>Y | No | Ensembl | |
| rs2151316115 | 1708 | N>I | No | Ensembl | |
| rs775433053 | 1708 | N>K | No |
ExAC gnomAD |
|
| rs2151316115 | 1708 | N>S | No | Ensembl | |
| rs2151316115 | 1708 | N>T | No | Ensembl | |
| rs2151316101 | 1709 | E>* | No | Ensembl | |
| rs2051907545 | 1709 | E>D | No | TOPMed | |
| rs2151316093 | 1709 | E>G | No | Ensembl | |
| rs2151316101 | 1709 | E>K | No | Ensembl | |
| rs2151316101 | 1709 | E>Q | No | Ensembl | |
| rs2151316093 | 1709 | E>V | No | Ensembl | |
| rs2151316066 | 1710 | C>* | No | Ensembl | |
| rs1555471813 | 1710 | C>F | No | Ensembl | |
| rs1567265203 | 1710 | C>G | No | Ensembl | |
|
COSM1519212 rs1567265203 |
1710 | C>S | lung [Cosmic] | No |
cosmic curated Ensembl |
|
COSM1519212 rs1555471813 COSM6144610 |
1710 | C>S | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic Ensembl |
| rs2151316066 | 1710 | C>W | No | Ensembl | |
| rs2051907337 | 1711 | K>* | No | Ensembl | |
| rs2051907337 | 1711 | K>E | No | Ensembl | |
| rs1321005458 | 1711 | K>M | No |
TOPMed gnomAD |
|
| rs757320941 | 1711 | K>N | No |
TOPMed gnomAD |
|
| rs2051907337 | 1711 | K>Q | No | Ensembl | |
| rs1321005458 | 1711 | K>R | No |
TOPMed gnomAD |
|
| rs1321005458 | 1711 | K>T | No |
TOPMed gnomAD |
|
| rs2151316028 | 1712 | H>D | No | Ensembl | |
| rs2151316016 | 1712 | H>L | No | Ensembl | |
| rs2151316016 | 1712 | H>P | No | Ensembl | |
| rs2151316005 | 1712 | H>Q | No | Ensembl | |
| rs2151316016 | 1712 | H>R | No | Ensembl | |
| rs2151316028 | 1712 | H>Y | No | Ensembl | |
| rs2151315990 | 1713 | H>L | No | Ensembl | |
| rs2051907070 | 1713 | H>N | No | TOPMed | |
| rs200634267 | 1713 | H>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2151315990 | 1713 | H>R | No | Ensembl | |
| rs2051907070 | 1713 | H>Y | No | TOPMed | |
| rs2151315968 | 1714 | V>A | No | Ensembl | |
| rs2151315968 | 1714 | V>E | No | Ensembl | |
| rs2151315968 | 1714 | V>G | No | Ensembl | |
|
rs2151315977 COSM318345 |
1714 | V>L | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs2151315977 | 1714 | V>M | No | Ensembl | |
| rs2151315952 | 1715 | E>D | No | Ensembl | |
| rs2151315959 | 1715 | E>Q | No | Ensembl | |
| rs2151315947 | 1716 | T>A | No | Ensembl | |
| rs2151315936 | 1716 | T>K | No | Ensembl | |
|
rs2151315936 COSM4877446 |
1716 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2151315947 | 1716 | T>P | No | Ensembl | |
| rs2151315936 | 1716 | T>R | No | Ensembl | |
| rs2151315947 | 1716 | T>S | No | Ensembl | |
| rs1170699683 | 1717 | R>C | No | gnomAD | |
| rs1170699683 | 1717 | R>G | No | gnomAD | |
| rs748975160 | 1717 | R>H | No |
ExAC gnomAD |
|
| rs748975160 | 1717 | R>P | No |
ExAC gnomAD |
|
| rs2151315882 | 1718 | W>* | No | Ensembl | |
| rs2151315874 | 1718 | W>* | No | Ensembl | |
| rs2151315874 | 1718 | W>C | No | Ensembl | |
| rs2151315882 | 1718 | W>L | No | Ensembl | |
| rs2151315890 | 1718 | W>R | No | Ensembl | |
| rs2051906453 | 1719 | H>L | No | TOPMed | |
| rs2051906453 | 1719 | H>P | No | TOPMed | |
| rs2151315861 | 1719 | H>Q | No | Ensembl | |
| rs2051906453 | 1719 | H>R | No | TOPMed | |
| rs2051906316 | 1720 | C>F | No | Ensembl | |
| rs2051906390 | 1720 | C>S | No | Ensembl | |
| rs2051906316 | 1720 | C>S | No | Ensembl | |
| rs1186366762 | 1720 | C>W | No | gnomAD | |
| rs2151315841 | 1721 | T>I | No | Ensembl | |
| rs2151315841 | 1721 | T>S | No | Ensembl | |
| rs2151315817 | 1722 | V>A | No | Ensembl | |
| rs2151315817 | 1722 | V>E | No | Ensembl | |
| rs2151315817 | 1722 | V>G | No | Ensembl | |
| rs755425299 | 1722 | V>L | No |
ExAC gnomAD |
|
| rs755425299 | 1722 | V>M | No |
ExAC gnomAD |
|
| rs146718571 | 1723 | C>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs794727535 | 1723 | C>F | No | Ensembl | |
| rs794727535 | 1723 | C>S | No | Ensembl | |
| rs2151315803 | 1723 | C>S | No | Ensembl | |
|
RCV000177469 CA243645 rs794727535 |
1723 | C>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1567265131 | 1724 | E>* | No | Ensembl | |
| rs2151315763 | 1724 | E>D | No | Ensembl | |
| rs2151315767 | 1724 | E>G | No | Ensembl | |
| rs1567265131 | 1724 | E>Q | No | Ensembl | |
| rs756382830 | 1725 | D>E | No |
ExAC gnomAD |
|
| rs2151312789 | 1725 | D>G | No | Ensembl | |
| rs2151312789 | 1725 | D>V | No | Ensembl | |
| rs2151312794 | 1725 | D>Y | No | Ensembl | |
| rs752909743 | 1726 | Y>* | No |
ExAC TOPMed gnomAD |
|
| rs2151312760 | 1726 | Y>C | No | Ensembl | |
| rs2151312760 | 1726 | Y>F | No | Ensembl | |
| rs2151312769 | 1726 | Y>H | No | Ensembl | |
| rs2151312760 | 1726 | Y>S | No | Ensembl | |
| rs2151312732 | 1727 | D>A | No | Ensembl | |
| rs767302334 | 1727 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs2151312732 | 1727 | D>G | No | Ensembl | |
| rs2151312741 | 1727 | D>H | No | Ensembl | |
| rs2151312741 | 1727 | D>N | No | Ensembl | |
| rs2151312732 | 1727 | D>V | No | Ensembl | |
| rs2151312741 | 1727 | D>Y | No | Ensembl | |
| rs2151312718 | 1728 | L>F | No | Ensembl | |
| rs2151312711 | 1728 | L>H | No | Ensembl | |
| rs2151312711 | 1728 | L>P | No | Ensembl | |
| rs2151312694 | 1729 | C>R | No | Ensembl | |
| rs2151312694 | 1729 | C>S | No | Ensembl | |
| rs2051863786 | 1729 | C>W | No | TOPMed | |
| rs1159294530 | 1730 | I>F | No | gnomAD | |
| rs2151312658 | 1730 | I>M | No | Ensembl | |
| rs2151312669 | 1730 | I>N | No | Ensembl | |
| rs751537328 | 1731 | N>I | No | ExAC | |
| rs2151312640 | 1731 | N>K | No | Ensembl | |
| rs751537328 | 1731 | N>S | No | ExAC | |
| rs751537328 | 1731 | N>T | No | ExAC | |
| rs2151312651 | 1731 | N>Y | No | Ensembl | |
| rs1471958863 | 1732 | C>* | No |
TOPMed gnomAD |
|
| rs2151312625 | 1732 | C>F | No | Ensembl | |
| rs2151312631 | 1732 | C>S | No | Ensembl | |
| rs2151312625 | 1732 | C>S | No | Ensembl | |
| rs1471958863 | 1732 | C>W | No |
TOPMed gnomAD |
|
| rs2151312625 | 1732 | C>Y | No | Ensembl | |
| rs1249231459 | 1733 | Y>* | No |
TOPMed gnomAD |
|
| TCGA novel | 1733 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151312599 | 1733 | Y>F | No | Ensembl | |
| rs2151312608 | 1733 | Y>H | No | Ensembl | |
| rs2151312599 | 1733 | Y>S | No | Ensembl | |
| rs766268098 | 1734 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs2151312573 | 1734 | N>I | No | Ensembl | |
| rs2151312573 | 1734 | N>S | No | Ensembl | |
| rs766268098 | 1734 | N>Y | No |
ExAC TOPMed gnomAD |
|
| rs1064793090 | 1735 | T>K | No |
TOPMed gnomAD |
|
|
rs1064793090 RCV001756631 |
1735 | T>R | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs2151312565 | 1735 | T>S | No | Ensembl | |
| rs2151312536 | 1736 | K>* | No | Ensembl | |
| rs2151312529 | 1736 | K>M | No | Ensembl | |
|
rs2151312522 RCV001754935 |
1736 | K>N | No |
ClinVar Ensembl dbSNP |
|
| rs2151312529 | 1736 | K>R | No | Ensembl | |
| rs769426348 | 1737 | S>C | No |
ExAC gnomAD |
|
| rs769426348 | 1737 | S>G | No |
ExAC gnomAD |
|
| rs761564898 | 1737 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs2151312500 | 1737 | S>R | No | Ensembl | |
| rs761564898 | 1737 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs2151312491 | 1738 | H>D | No | Ensembl | |
| rs776367859 | 1738 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs2151312491 | 1738 | H>Y | No | Ensembl | |
| rs772591687 | 1739 | A>D | No |
ExAC gnomAD |
|
| rs772591687 | 1739 | A>G | No |
ExAC gnomAD |
|
| rs1298198635 | 1739 | A>P | No | gnomAD | |
| rs1298198635 | 1739 | A>S | No | gnomAD | |
| rs1298198635 | 1739 | A>T | No | gnomAD | |
| rs772591687 | 1739 | A>V | No |
ExAC gnomAD |
|
|
rs1596788162 RCV000996195 |
1740 | H>N | No |
ClinVar Ensembl dbSNP |
|
| rs2151312452 | 1740 | H>Q | No | Ensembl | |
|
RCV000782042 rs1567263724 COSM293624 |
1740 | H>R | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
| rs1051436224 | 1741 | K>* | No | Ensembl | |
| rs1051436224 | 1741 | K>E | No | Ensembl | |
| rs2151312435 | 1741 | K>M | No | Ensembl | |
| rs746182180 | 1741 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs2151312435 | 1741 | K>R | No | Ensembl | |
| rs2151312403 | 1742 | M>I | No | Ensembl | |
| rs2151312417 | 1742 | M>K | No | Ensembl | |
| rs2151312423 | 1742 | M>L | No | Ensembl | |
| TCGA novel | 1743 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151312384 | 1744 | K>M | No | Ensembl | |
| rs1567263707 | 1744 | K>N | No | Ensembl | |
| rs2151312384 | 1744 | K>R | No | Ensembl | |
| rs2151312366 | 1745 | W>* | No | Ensembl | |
| rs2151312366 | 1745 | W>C | No | Ensembl | |
| rs2151312371 | 1745 | W>G | No | Ensembl | |
| rs2151312371 | 1745 | W>R | No | Ensembl | |
| rs869312714 | 1746 | G>A | No | gnomAD | |
| rs869312714 | 1746 | G>E | No | gnomAD | |
| rs1567263703 | 1746 | G>R | No | Ensembl | |
| TCGA novel | 1747 | L>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151312325 | 1747 | L>P | No | Ensembl | |
| rs2151312325 | 1747 | L>Q | No | Ensembl | |
| rs2051861916 | 1748 | G>A | No | TOPMed | |
| rs2051861916 | 1748 | G>D | No | TOPMed | |
| rs2051861916 | 1748 | G>V | No | TOPMed | |
| rs368844792 | 1749 | L>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151312302 | 1749 | L>P | No | Ensembl | |
| rs2151312302 | 1749 | L>Q | No | Ensembl | |
| rs368844792 | 1749 | L>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs199524407 | 1750 | D>E | No |
1000Genomes ExAC gnomAD |
|
| rs1322674210 | 1750 | D>H | No | gnomAD | |
| rs1322674210 | 1750 | D>N | No | gnomAD | |
| rs1322674210 | 1750 | D>Y | No | gnomAD | |
| rs1390796667 | 1751 | D>A | No | gnomAD | |
| rs1428541743 | 1751 | D>E | No | TOPMed | |
| rs1390796667 | 1751 | D>G | No | gnomAD | |
| rs2151312265 | 1751 | D>H | No | Ensembl | |
| rs2151312265 | 1751 | D>N | No | Ensembl | |
| rs1390796667 | 1751 | D>V | No | gnomAD | |
| rs2151312265 | 1751 | D>Y | No | Ensembl | |
| rs922887368 | 1752 | E>* | No | Ensembl | |
| rs1159788023 | 1752 | E>D | No | gnomAD | |
| rs1427084331 | 1752 | E>G | No | gnomAD | |
| rs922887368 | 1752 | E>K | No | Ensembl | |
| rs922887368 | 1752 | E>Q | No | Ensembl | |
| rs1427084331 | 1752 | E>V | No | gnomAD | |
| rs2151312220 | 1753 | G>R | No | Ensembl | |
| rs2151312220 | 1753 | G>S | No | Ensembl | |
| rs1368189000 | 1754 | S>C | No | gnomAD | |
| rs1368189000 | 1754 | S>G | No | gnomAD | |
| rs2151312198 | 1754 | S>N | No | Ensembl | |
| rs2151312194 | 1754 | S>R | No | Ensembl | |
| rs2151312198 | 1754 | S>T | No | Ensembl | |
| rs2051860975 | 1755 | S>C | No | TOPMed | |
| rs2051860975 | 1755 | S>G | No | TOPMed | |
| rs141069312 | 1755 | S>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs141069312 | 1755 | S>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2151312172 | 1755 | S>R | No | Ensembl | |
| rs141069312 | 1755 | S>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| COSM6079254 | 1756 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs777893683 | 1756 | Q>E | No |
ExAC gnomAD |
|
| rs2051860601 | 1756 | Q>H | No |
TOPMed gnomAD |
|
| rs756119028 | 1756 | Q>R | No |
ExAC gnomAD |
|
| rs2151312132 | 1757 | G>A | No | Ensembl | |
|
COSM6144612 COSM1519214 rs2151312141 |
1757 | G>C | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic Ensembl |
| rs2151312132 | 1757 | G>D | No | Ensembl | |
| rs2151312141 | 1757 | G>R | No | Ensembl | |
| rs2151312141 | 1757 | G>S | No | Ensembl | |
| rs2151312132 | 1757 | G>V | No | Ensembl | |
| rs1376667989 | 1758 | E>* | No |
TOPMed gnomAD |
|
| rs2151312100 | 1758 | E>A | No | Ensembl | |
| rs2051860306 | 1758 | E>D | No | gnomAD | |
| rs2151312100 | 1758 | E>G | No | Ensembl | |
| rs1376667989 | 1758 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1376667989 | 1758 | E>Q | No |
TOPMed gnomAD |
|
| rs2151312100 | 1758 | E>V | No | Ensembl | |
| rs2151312081 | 1759 | P>A | No | Ensembl | |
| rs2151312072 | 1759 | P>L | No | Ensembl | |
| rs2151312081 | 1759 | P>S | No | Ensembl | |
| rs2151312081 | 1759 | P>T | No | Ensembl | |
| rs2151312056 | 1760 | Q>* | No | Ensembl | |
| rs2151312056 | 1760 | Q>E | No | Ensembl | |
| rs1467393615 | 1760 | Q>H | No | gnomAD | |
| rs2151312046 | 1760 | Q>L | No | Ensembl | |
| rs2151312046 | 1760 | Q>R | No | Ensembl | |
|
COSM1377816 rs2151312012 COSM96455 |
1761 | S>* | Variant assessed as Somatic; HIGH impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic Ensembl |
| rs2151312022 | 1761 | S>A | No | Ensembl | |
| rs2151312012 | 1761 | S>L | No | Ensembl | |
| rs2151312022 | 1761 | S>P | No | Ensembl | |
| TCGA novel | 1761 | S>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151312022 | 1761 | S>T | No | Ensembl | |
| rs2151311991 | 1762 | K>* | No | Ensembl | |
| rs2151311991 | 1762 | K>E | No | Ensembl | |
| rs2151311979 | 1762 | K>M | No | Ensembl | |
| rs2051859952 | 1762 | K>N | No |
TOPMed gnomAD |
|
| TCGA novel | 1762 | K>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151311979 | 1762 | K>R | No | Ensembl | |
| rs2151311979 | 1762 | K>T | No | Ensembl | |
| rs751360168 | 1763 | S>I | No |
ExAC TOPMed gnomAD |
|
| rs751360168 | 1763 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs1432451714 | 1763 | S>R | No |
TOPMed gnomAD |
|
| rs751360168 | 1763 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs2151311945 | 1764 | P>A | No | Ensembl | |
| rs2151311935 | 1764 | P>H | No | Ensembl | |
| rs2151311935 | 1764 | P>L | No | Ensembl | |
| rs2151311935 | 1764 | P>R | No | Ensembl | |
| rs2151311945 | 1764 | P>T | No | Ensembl | |
| rs2151311918 | 1765 | Q>H | No | Ensembl | |
| rs2151311904 | 1766 | E>* | No | Ensembl | |
| rs2151311887 | 1766 | E>D | No | Ensembl | |
| rs2151311894 | 1766 | E>G | No | Ensembl | |
| rs2151311904 | 1766 | E>K | No | Ensembl | |
| rs2151311904 | 1766 | E>Q | No | Ensembl | |
| rs2151311894 | 1766 | E>V | No | Ensembl | |
| rs2051859628 | 1767 | S>* | No |
TOPMed gnomAD |
|
| rs2151311874 | 1767 | S>A | No | Ensembl | |
|
rs2051859628 COSM703037 |
1767 | S>L | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated TOPMed gnomAD |
| rs2151311874 | 1767 | S>P | No | Ensembl | |
| rs2151311874 | 1767 | S>T | No | Ensembl | |
| TCGA novel | 1768 | R>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151311850 | 1768 | R>C | No | Ensembl | |
| rs2151311850 | 1768 | R>G | No | Ensembl | |
|
TCGA novel RCV001571257 rs2151311840 |
1768 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA Ensembl dbSNP |
| rs2151311840 | 1768 | R>L | No | Ensembl | |
| rs2151311840 | 1768 | R>P | No | Ensembl | |
| rs2151311827 | 1769 | R>G | No | Ensembl | |
| rs2151311815 | 1769 | R>L | No | Ensembl | |
| rs2151311815 | 1769 | R>P | No | Ensembl | |
| rs2151311815 | 1769 | R>Q | No | Ensembl | |
| rs2151311827 | 1769 | R>W | No | Ensembl | |
| rs2151311793 | 1770 | L>P | No | Ensembl | |
| rs2151311793 | 1770 | L>Q | No | Ensembl | |
| rs2151311793 | 1770 | L>R | No | Ensembl | |
| rs2151311803 | 1770 | L>V | No | Ensembl | |
| rs2151311771 | 1771 | S>C | No | Ensembl | |
| rs2151311771 | 1771 | S>G | No | Ensembl | |
| rs2151311763 | 1771 | S>N | No | Ensembl | |
| rs2151311771 | 1771 | S>R | No | Ensembl | |
| rs2151311751 | 1771 | S>R | No | Ensembl | |
| rs2151311763 | 1771 | S>T | No | Ensembl | |
| rs2151311744 | 1772 | I>F | No | Ensembl | |
| rs2151311744 | 1772 | I>L | No | Ensembl | |
|
RCV001544860 rs2151311733 |
1772 | I>N | No |
ClinVar Ensembl dbSNP |
|
| rs2151311733 | 1772 | I>S | No | Ensembl | |
| rs2151311733 | 1772 | I>T | No | Ensembl | |
| rs2051859368 | 1773 | Q>H | No | TOPMed | |
| rs2151311720 | 1774 | R>C | No | Ensembl | |
| rs2151311720 | 1774 | R>G | No | Ensembl | |
| rs2151311712 | 1774 | R>P | No | Ensembl | |
| rs2151311720 | 1774 | R>S | No | Ensembl | |
|
CA16607414 rs1057524802 RCV000443507 |
1775 | C>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2151311685 | 1775 | C>S | No | Ensembl | |
| rs1057524802 | 1775 | C>S | No | Ensembl | |
| rs762866431 | 1775 | C>W | No |
ExAC gnomAD |
|
| rs2151311685 | 1775 | C>Y | No | Ensembl | |
| rs2151311674 | 1776 | I>F | No | Ensembl | |
| rs2151311674 | 1776 | I>L | No | Ensembl | |
| rs1351096344 | 1776 | I>M | No | TOPMed | |
| rs2151311664 | 1776 | I>N | No | Ensembl | |
| rs2151311664 | 1776 | I>T | No | Ensembl | |
| rs2151311647 | 1777 | Q>* | No | Ensembl | |
| rs2151311647 | 1777 | Q>E | No | Ensembl | |
| rs750321848 | 1777 | Q>H | No |
ExAC gnomAD |
|
| rs1220965943 | 1778 | S>* | No |
TOPMed gnomAD |
|
|
rs1220965943 COSM3509553 |
1778 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1220965943 | 1778 | S>W | No |
TOPMed gnomAD |
|
|
RCV000483007 rs1064796457 CA16620201 |
1779 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1064796457 | 1779 | L>Q | No | Ensembl | |
| rs2151311612 | 1779 | L>V | No | Ensembl | |
| rs1596787828 | 1780 | V>G | No | Ensembl | |
| rs2151311580 | 1781 | H>D | No | Ensembl | |
| rs2151311575 | 1781 | H>L | No | Ensembl | |
| rs2151311575 | 1781 | H>P | No | Ensembl | |
| rs761362403 | 1781 | H>Q | No |
ExAC gnomAD |
|
| rs2151311575 | 1781 | H>R | No | Ensembl | |
| rs2151311580 | 1781 | H>Y | No | Ensembl | |
| rs2051858361 | 1782 | A>E | No | Ensembl | |
| rs2051858361 | 1782 | A>G | No | Ensembl | |
| rs1567263529 | 1782 | A>P | No | Ensembl | |
| rs1567263529 | 1782 | A>S | No | Ensembl | |
|
RCV002052282 rs2151311520 |
1783 | C>F | No |
ClinVar Ensembl dbSNP |
|
| rs2151311526 | 1783 | C>G | No | Ensembl | |
| rs2151311526 | 1783 | C>R | No | Ensembl | |
| rs2151311526 | 1783 | C>S | No | Ensembl | |
| rs2151311511 | 1783 | C>W | No | Ensembl | |
| rs2151311505 | 1784 | Q>* | No | Ensembl | |
| rs2151311505 | 1784 | Q>E | No | Ensembl | |
| rs760349635 | 1784 | Q>H | No |
ExAC gnomAD |
|
| rs1343303954 | 1785 | C>F | No | gnomAD | |
| rs2151311491 | 1785 | C>G | No | Ensembl | |
| rs2151311491 | 1785 | C>R | No | Ensembl | |
| rs2151311491 | 1785 | C>S | No | Ensembl | |
| rs1343303954 | 1785 | C>S | No | gnomAD | |
| rs2051858022 | 1785 | C>W | No | Ensembl | |
| rs1343303954 | 1785 | C>Y | No | gnomAD | |
| rs1555471394 | 1786 | R>G | No | gnomAD | |
| rs988251457 | 1786 | R>L | No | TOPMed | |
| rs1555471394 | 1786 | R>S | No | gnomAD | |
| rs2151311436 | 1787 | N>D | No | Ensembl | |
| rs2151311436 | 1787 | N>H | No | Ensembl | |
| rs2151311436 | 1787 | N>Y | No | Ensembl | |
|
RCV000523606 rs1555471385 CA658658387 |
1787 | N>missing | No |
ClinGen ClinVar dbSNP |
|
| rs2151311424 | 1787 | N>I | No | Ensembl | |
| rs2151311424 | 1787 | N>S | No | Ensembl | |
| rs2151311424 | 1787 | N>T | No | Ensembl | |
| rs2151311392 | 1788 | A>D | No | Ensembl | |
| rs2151311392 | 1788 | A>G | No | Ensembl | |
| rs1064795794 | 1788 | A>P | No | Ensembl | |
| rs1064795794 | 1788 | A>S | No | Ensembl | |
|
CA16620200 RCV000486381 rs1064795794 |
1788 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2151311392 | 1788 | A>V | No | Ensembl | |
| rs2151311380 | 1789 | N>D | No | Ensembl | |
| TCGA novel | 1789 | N>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1064794963 | 1789 | N>I | No | Ensembl | |
|
COSM303848 rs2151311363 RCV001420341 |
1789 | N>K | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated ClinVar Ensembl dbSNP |
|
RCV000483574 rs1064794963 CA16620199 |
1789 | N>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2151311380 | 1789 | N>Y | No | Ensembl | |
| rs2151311358 | 1790 | C>S | No | Ensembl | |
| rs2151311350 | 1790 | C>S | No | Ensembl | |
| rs1401107038 | 1790 | C>W | No |
TOPMed gnomAD |
|
| rs2151311350 | 1790 | C>Y | No | Ensembl | |
| rs1214172132 | 1791 | S>* | No | TOPMed | |
| rs771319484 | 1791 | S>A | No |
ExAC gnomAD |
|
| rs1214172132 | 1791 | S>L | No | TOPMed | |
| rs771319484 | 1791 | S>T | No |
ExAC gnomAD |
|
| rs1214172132 | 1791 | S>W | No | TOPMed | |
| rs2151311303 | 1792 | L>P | No | Ensembl | |
| rs2151311303 | 1792 | L>Q | No | Ensembl | |
| rs773650751 | 1792 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs2151311286 | 1793 | P>A | No | Ensembl | |
| rs2151311280 | 1793 | P>Q | No | Ensembl | |
| rs2151311286 | 1793 | P>S | No | Ensembl | |
| rs2151311286 | 1793 | P>T | No | Ensembl | |
| rs2151311259 | 1794 | S>C | No | Ensembl | |
| rs2151311259 | 1794 | S>F | No | Ensembl | |
| rs2151311269 | 1794 | S>P | No | Ensembl | |
| rs2151311269 | 1794 | S>T | No | Ensembl | |
| rs2151311237 | 1795 | C>* | No | Ensembl | |
|
rs2151311248 COSM3670194 |
1795 | C>R | central_nervous_system [Cosmic] | No |
cosmic curated Ensembl |
| rs2151311248 | 1795 | C>S | No | Ensembl | |
| rs2151311237 | 1795 | C>W | No | Ensembl | |
|
COSM3937063 rs2151311227 |
1796 | Q>* | oesophagus [Cosmic] | No |
cosmic curated Ensembl |
| rs2151311227 | 1796 | Q>E | No | Ensembl | |
| rs2051856825 | 1796 | Q>H | No | TOPMed | |
| rs2151311213 | 1797 | K>* | No | Ensembl | |
| rs2151311206 | 1797 | K>M | No | Ensembl | |
| rs2051856745 | 1797 | K>N | No | TOPMed | |
| rs2151311173 | 1798 | M>I | No | Ensembl | |
| rs2151311179 | 1798 | M>K | No | Ensembl | |
| rs2151311187 | 1798 | M>L | No | Ensembl | |
| rs2151311179 | 1798 | M>R | No | Ensembl | |
| rs2151311163 | 1799 | K>* | No | Ensembl | |
| rs2151311163 | 1799 | K>E | No | Ensembl | |
| rs2151311158 | 1799 | K>M | No | Ensembl | |
| rs2151311154 | 1799 | K>N | No | Ensembl | |
| rs2151311158 | 1799 | K>R | No | Ensembl | |
| rs2151311140 | 1800 | R>G | No | Ensembl | |
| rs2151311133 | 1800 | R>L | No | Ensembl | |
| rs2151311133 | 1800 | R>P | No | Ensembl | |
|
rs2151311133 COSM1726101 |
1800 | R>Q | liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2151311140 | 1800 | R>W | No | Ensembl | |
| rs2151311101 | 1801 | V>A | No | Ensembl | |
| rs2151311101 | 1801 | V>E | No | Ensembl | |
| rs2151311101 | 1801 | V>G | No | Ensembl | |
| rs2151311117 | 1801 | V>L | No | Ensembl | |
| rs2151311117 | 1801 | V>M | No | Ensembl | |
| rs2151311078 | 1802 | V>L | No | Ensembl | |
| rs2151311078 | 1802 | V>M | No | Ensembl | |
| TCGA novel | 1803 | Q>H | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151311052 | 1803 | Q>L | No | Ensembl | |
| rs2151311052 | 1803 | Q>P | No | Ensembl | |
| rs2151311052 | 1803 | Q>R | No | Ensembl | |
| rs2151311031 | 1804 | H>D | No | Ensembl | |
| rs2151311021 | 1804 | H>L | No | Ensembl | |
| rs2151311031 | 1804 | H>N | No | Ensembl | |
| rs2151311021 | 1804 | H>P | No | Ensembl | |
| rs2151311021 | 1804 | H>R | No | Ensembl | |
| rs2151311031 | 1804 | H>Y | No | Ensembl | |
| rs2151310994 | 1805 | T>I | No | Ensembl | |
| rs2151311001 | 1805 | T>P | No | Ensembl | |
| rs2151311001 | 1805 | T>S | No | Ensembl | |
|
TCGA novel rs2151310994 |
1805 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2151310982 | 1806 | K>M | No | Ensembl | |
| rs2151310982 | 1806 | K>R | No | Ensembl | |
| rs2151310961 | 1807 | G>C | No | Ensembl | |
| rs2151310961 | 1807 | G>R | No | Ensembl | |
| rs2151310961 | 1807 | G>S | No | Ensembl | |
| COSM270820 | 1808 | C>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
TCGA novel rs2151310934 |
1808 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2151310940 | 1808 | C>G | No | Ensembl | |
| rs2151310940 | 1808 | C>R | No | Ensembl | |
| rs2151310940 | 1808 | C>S | No | Ensembl | |
| rs2151310926 | 1809 | K>* | No | Ensembl | |
| rs2151310926 | 1809 | K>E | No | Ensembl | |
| rs1488569881 | 1809 | K>I | No |
TOPMed gnomAD |
|
| rs2151310901 | 1809 | K>N | No | Ensembl | |
| rs1488569881 | 1809 | K>R | No |
TOPMed gnomAD |
|
| rs1488569881 | 1809 | K>T | No |
TOPMed gnomAD |
|
| rs2051856201 | 1810 | R>C | No | Ensembl | |
| rs2051856201 | 1810 | R>G | No | Ensembl | |
| rs2151310889 | 1810 | R>H | No | Ensembl | |
| rs2151310889 | 1810 | R>P | No | Ensembl | |
| rs2151310875 | 1811 | K>E | No | Ensembl | |
| rs2151310862 | 1811 | K>M | No | Ensembl | |
| rs2151310850 | 1811 | K>N | No | Ensembl | |
| rs2151310862 | 1811 | K>R | No | Ensembl | |
| TCGA novel | 1811 | K>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151310833 | 1812 | T>A | No | Ensembl | |
| rs2151310825 | 1812 | T>I | No | Ensembl | |
| rs2151310833 | 1812 | T>P | No | Ensembl | |
| rs2151310833 | 1812 | T>S | No | Ensembl | |
| rs2151310825 | 1812 | T>S | No | Ensembl | |
| rs2151310814 | 1813 | N>D | No | Ensembl | |
| rs2151310814 | 1813 | N>H | No | Ensembl | |
| rs1443048838 | 1813 | N>I | No | gnomAD | |
|
rs372253007 RCV002276022 |
1813 | N>K | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1443048838 | 1813 | N>S | No | gnomAD | |
| rs1443048838 | 1813 | N>T | No | gnomAD | |
| rs2151310814 | 1813 | N>Y | No | Ensembl | |
| rs779719747 | 1814 | G>A | No |
ExAC gnomAD |
|
| rs747252584 | 1814 | G>R | No |
ExAC gnomAD |
|
| rs747252584 | 1814 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs2151310756 | 1815 | G>A | No | Ensembl | |
| rs1298083466 | 1815 | G>C | No | gnomAD | |
| rs2151310756 | 1815 | G>D | No | Ensembl | |
| rs1298083466 | 1815 | G>S | No | gnomAD | |
| rs2151310756 | 1815 | G>V | No | Ensembl | |
| rs2151310719 | 1816 | C>* | No | Ensembl | |
| rs2151310725 | 1816 | C>F | No | Ensembl | |
| rs2151310737 | 1816 | C>G | No | Ensembl | |
| rs2151310737 | 1816 | C>R | No | Ensembl | |
| rs2151310737 | 1816 | C>S | No | Ensembl | |
| rs2151310725 | 1816 | C>S | No | Ensembl | |
| rs2151310719 | 1816 | C>W | No | Ensembl | |
| rs2151310725 | 1816 | C>Y | No | Ensembl | |
| rs2151310698 | 1817 | P>A | No | Ensembl | |
| rs2151310689 | 1817 | P>L | No | Ensembl | |
| rs2151310689 | 1817 | P>Q | No | Ensembl | |
| rs2151310689 | 1817 | P>R | No | Ensembl | |
| rs2151310698 | 1817 | P>S | No | Ensembl | |
| rs2151310698 | 1817 | P>T | No | Ensembl | |
| TCGA novel | 1818 | V>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151310666 | 1818 | V>E | No | Ensembl | |
| rs2151310666 | 1818 | V>G | No | Ensembl | |
| rs2151310673 | 1818 | V>L | No | Ensembl | |
| rs2151310673 | 1818 | V>M | No | Ensembl | |
| COSM5351901 | 1819 | C>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2151310645 | 1819 | C>G | No | Ensembl | |
| rs2151310645 | 1819 | C>R | No | Ensembl | |
| rs2151310645 | 1819 | C>S | No | Ensembl | |
| rs2151310637 | 1819 | C>S | No | Ensembl | |
| rs2151310631 | 1819 | C>W | No | Ensembl | |
| rs2151310637 | 1819 | C>Y | No | Ensembl | |
| rs2151310626 | 1820 | K>* | No | Ensembl | |
| rs146656224 | 1820 | K>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs2051855275 | 1820 | K>R | No | Ensembl | |
| rs2151310609 | 1821 | Q>* | No | Ensembl | |
| rs2151310609 | 1821 | Q>E | No | Ensembl | |
| rs2151310589 | 1821 | Q>H | No | Ensembl | |
| rs1448187215 | 1821 | Q>L | No | gnomAD | |
| rs1448187215 | 1821 | Q>P | No | gnomAD | |
| rs2151310577 | 1822 | L>F | No | Ensembl | |
| rs2151310574 | 1822 | L>H | No | Ensembl | |
| rs2151310577 | 1822 | L>I | No | Ensembl | |
| rs2151310574 | 1822 | L>P | No | Ensembl | |
| rs2151310574 | 1822 | L>R | No | Ensembl | |
| rs2151310577 | 1822 | L>V | No | Ensembl | |
| rs2151310559 | 1823 | I>F | No | Ensembl | |
| rs2151310559 | 1823 | I>L | No | Ensembl | |
| rs757233262 | 1823 | I>M | No |
ExAC gnomAD |
|
| rs2151310551 | 1823 | I>N | No | Ensembl | |
| rs2151310551 | 1823 | I>S | No | Ensembl | |
| rs2151310551 | 1823 | I>T | No | Ensembl | |
| rs2151310531 | 1824 | A>G | No | Ensembl | |
| rs1284271051 | 1824 | A>P | No | gnomAD | |
| rs1284271051 | 1824 | A>S | No | gnomAD | |
|
COSM260287 rs1284271051 |
1824 | A>T | lung Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated gnomAD |
|
rs2151310531 TCGA novel |
1824 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2151310513 | 1825 | L>F | No | Ensembl | |
| rs1431269013 | 1825 | L>H | No | gnomAD | |
| rs2151310513 | 1825 | L>I | No | Ensembl | |
| rs1431269013 | 1825 | L>P | No | gnomAD | |
| rs1431269013 | 1825 | L>R | No | gnomAD | |
| rs2151310513 | 1825 | L>V | No | Ensembl | |
| rs1596787467 | 1826 | C>G | No | Ensembl | |
| rs2051854056 | 1826 | C>S | No | TOPMed | |
| rs2151310459 | 1827 | C>* | No | Ensembl | |
| rs2151310467 | 1827 | C>F | No | Ensembl | |
| rs2051853986 | 1827 | C>R | No | Ensembl | |
| rs2151310467 | 1827 | C>S | No | Ensembl | |
| rs2051853986 | 1827 | C>S | No | Ensembl | |
| rs2151310459 | 1827 | C>W | No | Ensembl | |
| rs2151310467 | 1827 | C>Y | No | Ensembl | |
| rs2151310455 | 1828 | Y>H | No | Ensembl | |
| rs2151310455 | 1828 | Y>N | No | Ensembl | |
| rs2151310446 | 1829 | H>N | No | Ensembl | |
| rs565393831 | 1829 | H>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2151310446 | 1829 | H>Y | No | Ensembl | |
| rs763643418 | 1830 | A>D | No |
ExAC gnomAD |
|
| rs763643418 | 1830 | A>G | No |
ExAC gnomAD |
|
| rs2151310426 | 1830 | A>P | No | Ensembl | |
| rs2151310426 | 1830 | A>S | No | Ensembl | |
| rs763643418 | 1830 | A>V | No |
ExAC gnomAD |
|
| rs2151310406 | 1831 | K>M | No | Ensembl | |
| rs2151310402 | 1831 | K>N | No | Ensembl | |
| rs2151310406 | 1831 | K>R | No | Ensembl | |
| rs2151310396 | 1832 | H>D | No | Ensembl | |
| rs1349098263 | 1832 | H>L | No | gnomAD | |
| rs1349098263 | 1832 | H>P | No | gnomAD | |
| rs2151310380 | 1832 | H>Q | No | Ensembl | |
| rs1349098263 | 1832 | H>R | No | gnomAD | |
| rs2151310396 | 1832 | H>Y | No | Ensembl | |
|
TCGA novel rs2151310351 |
1833 | C>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2151310360 | 1833 | C>F | No | Ensembl | |
| rs2151310371 | 1833 | C>R | No | Ensembl | |
| rs2151310371 | 1833 | C>S | No | Ensembl | |
| rs2151310360 | 1833 | C>S | No | Ensembl | |
| rs2151310351 | 1833 | C>W | No | Ensembl | |
| rs2151310360 | 1833 | C>Y | No | Ensembl | |
| rs2151310344 | 1834 | Q>* | No | Ensembl | |
| rs2151310344 | 1834 | Q>E | No | Ensembl | |
| rs2151310339 | 1834 | Q>H | No | Ensembl | |
| rs2151310344 | 1834 | Q>K | No | Ensembl | |
| rs2151310326 | 1835 | E>* | No | Ensembl | |
| rs2151310318 | 1835 | E>D | No | Ensembl | |
| rs2151310326 | 1835 | E>K | No | Ensembl | |
| rs2151310326 | 1835 | E>Q | No | Ensembl | |
| rs2151310311 | 1836 | N>H | No | Ensembl | |
| rs1327619860 | 1836 | N>I | No | gnomAD | |
| rs1327619860 | 1836 | N>S | No | gnomAD | |
| rs1327619860 | 1836 | N>T | No | gnomAD | |
| rs2151310311 | 1836 | N>Y | No | Ensembl | |
| rs2151310289 | 1837 | K>E | No | Ensembl | |
| rs2151310277 | 1837 | K>I | No | Ensembl | |
| rs2151310268 | 1837 | K>N | No | Ensembl | |
|
TCGA novel rs2151310277 |
1837 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2151310277 | 1837 | K>T | No | Ensembl | |
| rs2151310249 | 1838 | C>* | No | Ensembl | |
| rs1596787407 | 1838 | C>F | No | Ensembl | |
| rs1596787407 | 1838 | C>S | No | Ensembl | |
| rs2151310249 | 1838 | C>W | No | Ensembl | |
| rs2151310236 | 1839 | P>A | No | Ensembl | |
| rs2151310226 | 1839 | P>H | No | Ensembl | |
| rs2151310226 | 1839 | P>L | No | Ensembl | |
| rs2151310226 | 1839 | P>R | No | Ensembl | |
| rs2151310236 | 1839 | P>S | No | Ensembl | |
| rs2151310236 | 1839 | P>T | No | Ensembl | |
| rs2151310203 | 1840 | V>A | No | Ensembl | |
| TCGA novel | 1840 | V>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151310203 | 1840 | V>E | No | Ensembl | |
| rs2151310203 | 1840 | V>G | No | Ensembl | |
|
RCV001264634 rs2051853150 |
1840 | V>L | No |
ClinVar Ensembl dbSNP |
|
| rs2151310198 | 1841 | P>A | No | Ensembl | |
| rs2151310190 | 1841 | P>H | No | Ensembl | |
| rs2151310190 | 1841 | P>L | No | Ensembl | |
| rs2151310190 | 1841 | P>R | No | Ensembl | |
| rs2151310198 | 1841 | P>S | No | Ensembl | |
| rs2151310173 | 1842 | F>S | No | Ensembl | |
| rs2151310173 | 1842 | F>Y | No | Ensembl | |
| rs1360670779 | 1843 | C>* | No |
TOPMed gnomAD |
|
| rs2151310156 | 1843 | C>F | No | Ensembl | |
| rs2151310165 | 1843 | C>R | No | Ensembl | |
| rs2151310156 | 1843 | C>S | No | Ensembl | |
| rs1360670779 | 1843 | C>W | No |
TOPMed gnomAD |
|
| rs2151310156 | 1843 | C>Y | No | Ensembl | |
| rs2151310133 | 1844 | L>F | No | Ensembl | |
| rs2151310124 | 1844 | L>H | No | Ensembl | |
| rs2151310133 | 1844 | L>I | No | Ensembl | |
| rs2151310124 | 1844 | L>P | No | Ensembl | |
| rs2151310133 | 1844 | L>V | No | Ensembl | |
| rs2151310099 | 1845 | N>I | No | Ensembl | |
| rs2151310099 | 1845 | N>S | No | Ensembl | |
| rs2151310099 | 1845 | N>T | No | Ensembl | |
| rs2151310110 | 1845 | N>Y | No | Ensembl | |
| rs2151310088 | 1846 | I>F | No | Ensembl | |
| rs2151310088 | 1846 | I>L | No | Ensembl | |
| rs2151310076 | 1846 | I>M | No | Ensembl | |
| rs2151310083 | 1846 | I>N | No | Ensembl | |
| rs2151310083 | 1846 | I>T | No | Ensembl | |
| rs2151310063 | 1847 | K>* | No | Ensembl | |
| rs2151310063 | 1847 | K>E | No | Ensembl | |
| rs2151310058 | 1847 | K>I | No | Ensembl | |
| rs2151310052 | 1847 | K>N | No | Ensembl | |
| rs2151310058 | 1847 | K>R | No | Ensembl | |
| rs2151310058 | 1847 | K>T | No | Ensembl | |
| rs2151310038 | 1848 | H>L | No | Ensembl | |
| rs2151310038 | 1848 | H>P | No | Ensembl | |
| rs775138594 | 1848 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs2151310038 | 1848 | H>R | No | Ensembl | |
| rs1567263302 | 1848 | H>Y | No | Ensembl | |
| rs2151310023 | 1849 | K>* | No | Ensembl | |
| rs2151310023 | 1849 | K>E | No | Ensembl | |
| rs2151310008 | 1849 | K>M | No | Ensembl | |
| rs1473206711 | 1849 | K>N | No | gnomAD | |
| rs2151310008 | 1849 | K>R | No | Ensembl | |
| rs2151310008 | 1849 | K>T | No | Ensembl | |
| rs1596787362 | 1850 | L>H | No | Ensembl | |
| rs2151309991 | 1850 | L>I | No | Ensembl | |
| rs1596787362 | 1850 | L>P | No | Ensembl | |
| rs2151309991 | 1850 | L>V | No | Ensembl | |
| rs988000147 | 1851 | R>H | No |
TOPMed gnomAD |
|
| rs2151309956 | 1852 | Q>* | No | Ensembl | |
| rs2051852475 | 1852 | Q>H | No | Ensembl | |
| rs2151309956 | 1852 | Q>K | No | Ensembl | |
| rs2151309931 | 1853 | Q>* | No | Ensembl | |
| rs2151309931 | 1853 | Q>E | No | Ensembl | |
| rs2151309918 | 1853 | Q>H | No | Ensembl | |
| rs933672395 | 1853 | Q>L | No | TOPMed | |
| rs2151309914 | 1854 | Q>* | No | Ensembl | |
| rs2151309914 | 1854 | Q>E | No | Ensembl | |
| rs1484172307 | 1854 | Q>H | No | gnomAD | |
| rs2051852330 | 1854 | Q>L | No | Ensembl | |
| rs2051852330 | 1854 | Q>R | No | Ensembl | |
| rs2151309882 | 1855 | I>L | No | Ensembl | |
| rs2151309864 | 1855 | I>M | No | Ensembl | |
| rs1596787317 | 1855 | I>N | No | Ensembl | |
| rs1596787317 | 1855 | I>S | No | Ensembl | |
| rs1596787317 | 1855 | I>T | No | Ensembl | |
|
CA16620197 RCV000481712 rs1555471355 |
1855 | I>missing | No |
ClinGen ClinVar dbSNP |
|
| rs2151309856 | 1856 | Q>* | No | Ensembl | |
| rs2151309849 | 1856 | Q>H | No | Ensembl | |
| rs2151309856 | 1856 | Q>K | No | Ensembl | |
| rs2151309844 | 1857 | H>D | No | Ensembl | |
| rs1064795628 | 1857 | H>L | No | Ensembl | |
| rs2151309844 | 1857 | H>N | No | Ensembl | |
|
rs1064795628 RCV000487189 CA16620198 |
1857 | H>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs773738846 | 1857 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs1064795628 | 1857 | H>R | No | Ensembl | |
| rs2151309844 | 1857 | H>Y | No | Ensembl | |
| rs1204228560 | 1858 | R>C | No | gnomAD | |
| rs1204228560 | 1858 | R>G | No | gnomAD | |
| rs770325046 | 1858 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs770325046 | 1858 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs2151309789 | 1859 | L>P | No | Ensembl | |
| rs2151309789 | 1859 | L>Q | No | Ensembl | |
| rs748640689 | 1859 | L>V | No |
ExAC gnomAD |
|
| rs2151309778 | 1860 | Q>* | No | Ensembl | |
| rs2151309778 | 1860 | Q>E | No | Ensembl | |
| rs2151309759 | 1860 | Q>H | No | Ensembl | |
| rs2151309772 | 1860 | Q>L | No | Ensembl | |
| rs2151309772 | 1860 | Q>P | No | Ensembl | |
| rs2151309772 | 1860 | Q>R | No | Ensembl | |
| rs2151309757 | 1861 | Q>* | No | Ensembl | |
| rs2151309741 | 1861 | Q>H | No | Ensembl | |
| rs2151309757 | 1861 | Q>K | No | Ensembl | |
|
RCV001814783 rs2151309750 |
1861 | Q>P | No |
ClinVar Ensembl dbSNP |
|
| rs2151309718 | 1862 | A>D | No | Ensembl | |
| rs2151309718 | 1862 | A>G | No | Ensembl | |
| rs2151309733 | 1862 | A>T | No | Ensembl | |
| rs2151309718 | 1862 | A>V | No | Ensembl | |
| rs2151309702 | 1863 | Q>* | No | Ensembl | |
| rs2151309690 | 1863 | Q>H | No | Ensembl | |
| rs2151309702 | 1863 | Q>K | No | Ensembl | |
| rs2151309694 | 1863 | Q>R | No | Ensembl | |
| rs2151309683 | 1864 | L>F | No | Ensembl | |
| rs2151309678 | 1864 | L>H | No | Ensembl | |
| rs2151309683 | 1864 | L>I | No | Ensembl | |
| rs2151309678 | 1864 | L>P | No | Ensembl | |
| rs2151309683 | 1864 | L>V | No | Ensembl | |
| rs2151309646 | 1865 | M>I | No | Ensembl | |
| rs768716298 | 1865 | M>K | No |
ExAC gnomAD |
|
| rs768716298 | 1865 | M>R | No |
ExAC gnomAD |
|
| rs768716298 | 1865 | M>T | No |
ExAC gnomAD |
|
| rs2051851471 | 1866 | R>C | No |
TOPMed gnomAD |
|
| rs2051851471 | 1866 | R>G | No |
TOPMed gnomAD |
|
|
RCV000315875 CA10604995 rs886043017 |
1866 | R>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs886043017 | 1866 | R>L | No | Ensembl | |
| rs886043017 | 1866 | R>P | No | Ensembl | |
| rs2051851471 | 1866 | R>S | No |
TOPMed gnomAD |
|
|
rs398124148 RCV000081060 CA222703 |
1867 | R>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1131691326 RCV001824507 |
1867 | R>L | No |
ClinVar Ensembl dbSNP |
|
| rs1131691326 | 1867 | R>P | No | Ensembl | |
| rs886039491 | 1868 | R>G | No | Ensembl | |
| rs1567263168 | 1868 | R>P | No | Ensembl | |
| rs2151309553 | 1869 | M>K | No | Ensembl | |
| rs2151309560 | 1869 | M>L | No | Ensembl | |
| rs2151309553 | 1869 | M>R | No | Ensembl | |
| rs2151309553 | 1869 | M>T | No | Ensembl | |
| rs1411086593 | 1870 | A>T | No | gnomAD | |
| rs2151309527 | 1871 | T>I | No | Ensembl | |
| rs2151309527 | 1871 | T>N | No | Ensembl | |
| rs2151309527 | 1871 | T>S | No | Ensembl | |
| rs2151309489 | 1872 | M>I | No | Ensembl | |
| rs879255381 | 1872 | M>K | No | Ensembl | |
| rs879255381 | 1872 | M>R | No | Ensembl | |
| rs2151309482 | 1873 | N>D | No | Ensembl | |
| rs2151309482 | 1873 | N>H | No | Ensembl | |
| rs2151309472 | 1873 | N>I | No | Ensembl | |
| rs2151309472 | 1873 | N>S | No | Ensembl | |
| rs2151309472 | 1873 | N>T | No | Ensembl | |
| rs2151309482 | 1873 | N>Y | No | Ensembl | |
| rs1596787173 | 1874 | T>A | No | Ensembl | |
| rs1596787173 | 1874 | T>P | No | Ensembl | |
| rs1596787173 | 1874 | T>S | No | Ensembl | |
|
rs1064796056 CA16620196 RCV000486960 |
1875 | R>missing | No |
ClinGen ClinVar dbSNP |
|
| rs1350770585 | 1875 | R>C | No |
TOPMed gnomAD |
|
| rs1350770585 | 1875 | R>G | No |
TOPMed gnomAD |
|
| rs1032604340 | 1875 | R>H | No |
TOPMed gnomAD |
|
|
COSM6144613 COSM1519215 rs1032604340 |
1875 | R>L | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic TOPMed gnomAD |
| rs1032604340 | 1875 | R>P | No |
TOPMed gnomAD |
|
| rs1350770585 | 1875 | R>S | No |
TOPMed gnomAD |
|
| rs2151309408 | 1876 | N>H | No | Ensembl | |
| rs747210551 | 1876 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs2151309408 | 1876 | N>Y | No | Ensembl | |
| rs2151309379 | 1877 | V>A | No | Ensembl | |
| rs2151309379 | 1877 | V>E | No | Ensembl | |
| rs2151309379 | 1877 | V>G | No | Ensembl | |
| rs370389591 | 1877 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs370389591 | 1877 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs758163346 | 1878 | P>A | No |
ExAC gnomAD |
|
| rs2151309361 | 1878 | P>H | No | Ensembl | |
| rs758163346 | 1878 | P>S | No |
ExAC gnomAD |
|
| rs758163346 | 1878 | P>T | No |
ExAC gnomAD |
|
| rs2151309342 | 1879 | Q>* | No | Ensembl | |
| rs2151309342 | 1879 | Q>E | No | Ensembl | |
| rs2151309325 | 1879 | Q>H | No | Ensembl | |
| rs2151309333 | 1879 | Q>L | No | Ensembl | |
| rs2151309333 | 1879 | Q>R | No | Ensembl | |
| rs2151309318 | 1880 | Q>* | No | Ensembl | |
| rs2151309318 | 1880 | Q>E | No | Ensembl | |
| rs2151309311 | 1880 | Q>H | No | Ensembl | |
| rs2151309302 | 1881 | S>C | No | Ensembl | |
| rs1406476257 | 1881 | S>I | No | gnomAD | |
| rs1406476257 | 1881 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2151309277 | 1881 | S>R | No | Ensembl | |
| rs1406476257 | 1881 | S>T | No | gnomAD | |
| rs1417714398 | 1882 | L>M | No | gnomAD | |
| rs2151309255 | 1882 | L>P | No | Ensembl | |
| rs2151309255 | 1882 | L>Q | No | Ensembl | |
| rs1417714398 | 1882 | L>V | No | gnomAD | |
| rs2151309241 | 1883 | P>A | No | Ensembl | |
| rs1473598268 | 1883 | P>H | No |
TOPMed gnomAD |
|
| rs1473598268 | 1883 | P>L | No |
TOPMed gnomAD |
|
| rs1473598268 | 1883 | P>R | No |
TOPMed gnomAD |
|
| rs2151309241 | 1883 | P>S | No | Ensembl | |
| rs2151309215 | 1884 | S>F | No | Ensembl | |
| rs2151309225 | 1884 | S>P | No | Ensembl | |
| rs2151309215 | 1884 | S>Y | No | Ensembl | |
| rs1238792069 | 1885 | P>A | No |
TOPMed gnomAD |
|
| rs2151309204 | 1885 | P>H | No | Ensembl | |
| rs2151309204 | 1885 | P>L | No | Ensembl | |
| rs1238792069 | 1885 | P>S | No |
TOPMed gnomAD |
|
| rs1238792069 | 1885 | P>T | No |
TOPMed gnomAD |
|
| rs778824051 | 1886 | T>A | No |
ExAC gnomAD |
|
| rs2151309194 | 1886 | T>I | No | Ensembl | |
| rs778824051 | 1886 | T>P | No |
ExAC gnomAD |
|
| rs2151309194 | 1886 | T>S | No | Ensembl | |
| rs778824051 | 1886 | T>S | No |
ExAC gnomAD |
|
| rs2151309184 | 1887 | S>P | No | Ensembl | |
| rs2151309184 | 1887 | S>T | No | Ensembl | |
| rs2151309164 | 1888 | A>G | No | Ensembl | |
| rs2151309169 | 1888 | A>P | No | Ensembl | |
| rs2151309169 | 1888 | A>S | No | Ensembl | |
| rs2151309169 | 1888 | A>T | No | Ensembl | |
| rs2151309164 | 1888 | A>V | No | Ensembl | |
| rs2151309150 | 1889 | P>A | No | Ensembl | |
| rs143180774 | 1889 | P>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151309150 | 1889 | P>S | No | Ensembl | |
| rs2151309150 | 1889 | P>T | No | Ensembl | |
|
rs1555471336 RCV000627646 CA658798523 |
1890 | P>missing | No |
ClinGen ClinVar dbSNP |
|
| rs2051849043 | 1890 | P>A | No | Ensembl | |
| rs2151309112 | 1890 | P>H | No | Ensembl | |
| rs2151309112 | 1890 | P>L | No | Ensembl | |
| rs2151309112 | 1890 | P>R | No | Ensembl | |
| rs2051849043 | 1890 | P>S | No | Ensembl | |
| rs2051849043 | 1890 | P>T | No | Ensembl | |
| rs2051848758 | 1891 | G>E | No | TOPMed | |
| rs2051848842 | 1891 | G>R | No | gnomAD | |
| rs2051848686 | 1892 | T>I | No | TOPMed | |
| rs2151309068 | 1892 | T>P | No | Ensembl | |
| rs2151309068 | 1892 | T>S | No | Ensembl | |
| rs2051848686 | 1892 | T>S | No | TOPMed | |
| rs1321075506 | 1893 | P>A | No | gnomAD | |
| rs1321075506 | 1893 | P>S | No | gnomAD | |
| rs1321075506 | 1893 | P>T | No | gnomAD | |
| rs2051848339 | 1894 | T>A | No | Ensembl | |
| rs2151309019 | 1894 | T>I | No | Ensembl | |
| rs2151309019 | 1894 | T>R | No | Ensembl | |
| rs2151309006 | 1895 | Q>* | No | Ensembl | |
| rs1160745858 | 1895 | Q>H | No |
TOPMed gnomAD |
|
| rs2051848262 | 1895 | Q>P | No | Ensembl | |
| rs2051848262 | 1895 | Q>R | No | Ensembl | |
| rs2151308991 | 1896 | Q>* | No | Ensembl | |
| rs1229748932 | 1896 | Q>H | No | gnomAD | |
| rs2151308989 | 1896 | Q>L | No | Ensembl | |
| rs2151308989 | 1896 | Q>P | No | Ensembl | |
| rs755591559 | 1897 | P>L | No |
ExAC gnomAD |
|
| rs1383477288 | 1898 | S>I | No |
TOPMed gnomAD |
|
| rs1383477288 | 1898 | S>N | No |
TOPMed gnomAD |
|
| rs1400423132 | 1898 | S>R | No |
TOPMed gnomAD |
|
| rs1383477288 | 1898 | S>T | No |
TOPMed gnomAD |
|
| rs2151308945 | 1899 | T>A | No | Ensembl | |
| rs2051847771 | 1899 | T>I | No |
TOPMed gnomAD |
|
| rs2151308945 | 1899 | T>P | No | Ensembl | |
| rs2151308945 | 1899 | T>S | No | Ensembl | |
|
rs1287402561 COSM970550 |
1900 | P>A | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated gnomAD |
| rs2151308915 | 1900 | P>H | No | Ensembl | |
| rs2151308915 | 1900 | P>L | No | Ensembl | |
| rs2151308915 | 1900 | P>R | No | Ensembl | |
| rs1287402561 | 1900 | P>S | No | gnomAD | |
|
rs1287402561 RCV001761492 |
1900 | P>T | No |
ClinVar dbSNP gnomAD |
|
| rs2151308895 | 1901 | Q>* | No | Ensembl | |
| rs2151308887 | 1901 | Q>H | No | Ensembl | |
| rs2151308895 | 1901 | Q>K | No | Ensembl | |
| rs2151308877 | 1902 | T>A | No | Ensembl | |
| rs1369215188 | 1902 | T>M | No | gnomAD | |
| rs2151308877 | 1902 | T>P | No | Ensembl | |
| rs2151308877 | 1902 | T>S | No | Ensembl | |
| rs1408844707 | 1903 | P>A | No | TOPMed | |
| rs759157429 | 1903 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs759157429 | 1903 | P>Q | No |
ExAC gnomAD |
|
| rs759157429 | 1903 | P>R | No |
ExAC gnomAD |
|
| rs1408844707 | 1903 | P>S | No | TOPMed | |
| rs2151308835 | 1904 | Q>E | No | Ensembl | |
|
rs2151308824 COSM303846 |
1904 | Q>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
| rs2151308830 | 1904 | Q>L | No | Ensembl | |
| rs2151308830 | 1904 | Q>P | No | Ensembl | |
| rs2151308830 | 1904 | Q>R | No | Ensembl | |
| rs2151308812 | 1905 | P>A | No | Ensembl | |
| rs1198969992 | 1905 | P>H | No |
TOPMed gnomAD |
|
| rs1198969992 | 1905 | P>L | No |
TOPMed gnomAD |
|
| rs2151308812 | 1905 | P>S | No | Ensembl | |
| rs2151308812 | 1905 | P>T | No | Ensembl | |
| rs2151308785 | 1906 | P>L | No | Ensembl | |
| rs2151308785 | 1906 | P>R | No | Ensembl | |
| rs2151308775 | 1907 | A>D | No | Ensembl | |
| rs2151308775 | 1907 | A>G | No | Ensembl | |
| rs199990883 | 1907 | A>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs199990883 | 1907 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2151308775 COSM1202275 |
1907 | A>V | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs2151308752 | 1908 | Q>* | No | Ensembl | |
| rs762313866 | 1908 | Q>H | No |
ExAC gnomAD |
|
| rs2151308752 | 1908 | Q>K | No | Ensembl | |
| rs2151308746 | 1908 | Q>R | No | Ensembl | |
| rs2151308729 | 1909 | P>H | No | Ensembl | |
| rs2151308729 | 1909 | P>L | No | Ensembl | |
| rs2151308706 | 1910 | Q>* | No | Ensembl | |
| rs1158401580 | 1910 | Q>H | No |
TOPMed gnomAD |
|
| rs2151308706 | 1910 | Q>K | No | Ensembl | |
| rs2051846535 | 1910 | Q>P | No | gnomAD | |
| rs1417577046 | 1911 | P>A | No | gnomAD | |
| rs2051846329 | 1911 | P>H | No |
TOPMed gnomAD |
|
| rs2051846329 | 1911 | P>L | No |
TOPMed gnomAD |
|
| rs2051846329 | 1911 | P>R | No |
TOPMed gnomAD |
|
| rs1417577046 | 1911 | P>S | No | gnomAD | |
| rs2151308654 | 1912 | S>* | No | Ensembl | |
| rs1596786707 | 1912 | S>A | No | Ensembl | |
| rs2151308654 | 1912 | S>L | No | Ensembl | |
| rs1596786707 | 1912 | S>P | No | Ensembl | |
| rs1596786707 | 1912 | S>T | No | Ensembl | |
| rs2051846024 | 1913 | P>A | No | gnomAD | |
| rs2151308626 | 1913 | P>H | No | Ensembl | |
| rs2151308626 | 1913 | P>L | No | Ensembl | |
| rs2051846024 | 1913 | P>S | No | gnomAD | |
| rs760771706 | 1914 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2151308593 | 1915 | S>C | No | Ensembl | |
| rs2151308582 | 1915 | S>I | No | Ensembl | |
| rs2151308582 | 1915 | S>N | No | Ensembl | |
| rs2151308572 | 1915 | S>R | No | Ensembl | |
| rs2151308582 | 1915 | S>T | No | Ensembl | |
| rs2151308554 | 1916 | M>I | No | Ensembl | |
| rs559294915 | 1916 | M>K | No |
1000Genomes ExAC gnomAD |
|
| rs2151308567 | 1916 | M>L | No | Ensembl | |
| rs2151308567 | 1916 | M>V | No | Ensembl | |
| rs2151308533 | 1917 | S>* | No | Ensembl | |
| rs2151308541 | 1917 | S>A | No | Ensembl | |
| rs2151308533 | 1917 | S>L | No | Ensembl | |
| rs2151308541 | 1917 | S>P | No | Ensembl | |
| rs2151308541 | 1917 | S>T | No | Ensembl | |
| rs1279557500 | 1918 | P>A | No | gnomAD | |
| rs2151308512 | 1918 | P>L | No | Ensembl | |
| rs1279557500 | 1918 | P>S | No | gnomAD | |
| rs2151308481 | 1919 | A>G | No | Ensembl | |
| rs2151308488 | 1919 | A>P | No | Ensembl | |
| rs2151308488 | 1919 | A>S | No | Ensembl | |
| rs2151308488 | 1919 | A>T | No | Ensembl | |
| rs2151308481 | 1919 | A>V | No | Ensembl | |
| rs2151308462 | 1920 | G>A | No | Ensembl | |
| rs2151308462 | 1920 | G>D | No | Ensembl | |
| rs2151308475 | 1920 | G>R | No | Ensembl | |
| rs2151308475 | 1920 | G>S | No | Ensembl | |
| rs2151308462 | 1920 | G>V | No | Ensembl | |
| rs888675140 | 1921 | F>I | No | TOPMed | |
| rs888675140 | 1921 | F>L | No | TOPMed | |
| rs2151308448 | 1921 | F>S | No | Ensembl | |
| rs2151308448 | 1921 | F>Y | No | Ensembl | |
|
RCV001751842 rs1035114591 |
1922 | P>A | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs2151308429 | 1922 | P>H | No | Ensembl | |
| rs2151308429 | 1922 | P>L | No | Ensembl | |
| rs2151308429 | 1922 | P>R | No | Ensembl | |
| rs2151308404 | 1923 | S>I | No | Ensembl | |
| rs2151308404 | 1923 | S>N | No | Ensembl | |
| rs772392148 | 1923 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs2151308404 | 1923 | S>T | No | Ensembl | |
| rs1440955568 | 1924 | V>A | No |
TOPMed gnomAD |
|
| rs1440955568 | 1924 | V>E | No |
TOPMed gnomAD |
|
| rs1440955568 | 1924 | V>G | No |
TOPMed gnomAD |
|
| rs368145743 | 1924 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs2051844824 | 1925 | A>D | No | gnomAD | |
| rs2051844824 | 1925 | A>G | No | gnomAD | |
| rs926745450 | 1925 | A>S | No | Ensembl | |
| rs926745450 | 1925 | A>T | No | Ensembl | |
| rs2051844824 | 1925 | A>V | No | gnomAD | |
| rs1370704436 | 1926 | R>L | No |
TOPMed gnomAD |
|
| rs1370704436 | 1926 | R>P | No |
TOPMed gnomAD |
|
| rs778915687 | 1926 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs2151308318 | 1927 | T>A | No | Ensembl | |
| rs2151308309 | 1927 | T>I | No | Ensembl | |
| rs2151308318 | 1927 | T>P | No | Ensembl | |
| rs2151308309 | 1927 | T>S | No | Ensembl | |
| rs2151308318 | 1927 | T>S | No | Ensembl | |
| rs2151308298 | 1928 | Q>E | No | Ensembl | |
| rs2151308277 | 1928 | Q>H | No | Ensembl | |
| rs2151308298 | 1928 | Q>K | No | Ensembl | |
| rs2151308287 | 1928 | Q>L | No | Ensembl | |
| rs2151308287 | 1928 | Q>P | No | Ensembl | |
| rs2151308287 | 1928 | Q>R | No | Ensembl | |
| rs1451504925 | 1929 | P>A | No |
TOPMed gnomAD |
|
| rs2151308264 | 1929 | P>H | No | Ensembl | |
| rs2151308264 | 1929 | P>L | No | Ensembl | |
| rs2151308264 | 1929 | P>R | No | Ensembl | |
| rs1451504925 | 1929 | P>T | No |
TOPMed gnomAD |
|
| rs2051844449 | 1930 | P>A | No | TOPMed | |
| rs2151308245 | 1930 | P>H | No | Ensembl | |
| rs2151308245 | 1930 | P>L | No | Ensembl | |
| rs2151308245 | 1930 | P>R | No | Ensembl | |
| rs2051844449 | 1930 | P>S | No | TOPMed | |
| rs2051844449 | 1930 | P>T | No | TOPMed | |
| rs2151308226 | 1931 | T>I | No | Ensembl | |
| rs1596786496 | 1931 | T>P | No | Ensembl | |
| rs2151308226 | 1931 | T>S | No | Ensembl | |
| rs749249146 | 1932 | T>P | No |
ExAC TOPMed gnomAD |
|
| rs867074201 | 1932 | T>R | No |
TOPMed gnomAD |
|
| rs749249146 | 1932 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs2151308175 | 1933 | V>A | No | Ensembl | |
| rs2151308175 | 1933 | V>E | No | Ensembl | |
| rs2151308175 | 1933 | V>G | No | Ensembl | |
| rs1024044771 | 1933 | V>L | No |
TOPMed gnomAD |
|
| rs1024044771 | 1933 | V>M | No |
TOPMed gnomAD |
|
| rs587783504 | 1934 | S>A | No |
ExAC TOPMed gnomAD |
|
| rs2151308146 | 1934 | S>C | No | Ensembl | |
| rs2151308146 | 1934 | S>F | No | Ensembl | |
| rs587783504 | 1934 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs2151308146 | 1934 | S>Y | No | Ensembl | |
| rs2151308115 | 1935 | T>K | No | Ensembl | |
| rs2151308115 | 1935 | T>R | No | Ensembl | |
| rs2151308127 | 1935 | T>S | No | Ensembl | |
| rs2151308090 | 1936 | G>E | No | Ensembl | |
| rs2151308094 | 1936 | G>R | No | Ensembl | |
| TCGA novel | 1936 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151308094 | 1936 | G>W | No | Ensembl | |
| rs2151308080 | 1937 | K>E | No | Ensembl | |
| rs913922950 | 1937 | K>N | No | Ensembl | |
| rs2151308078 | 1937 | K>R | No | Ensembl | |
| TCGA novel | 1938 | P>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151308058 | 1938 | P>A | No | Ensembl | |
| rs2151308049 | 1938 | P>H | No | Ensembl | |
| rs2151308049 | 1938 | P>L | No | Ensembl | |
| rs2151308049 | 1938 | P>R | No | Ensembl | |
| rs2151308058 | 1938 | P>S | No | Ensembl | |
| rs2151308030 | 1939 | T>A | No | Ensembl | |
| rs1177039725 | 1939 | T>I | No | gnomAD | |
| rs1177039725 | 1939 | T>N | No | gnomAD | |
| rs2151308030 | 1939 | T>P | No | Ensembl | |
| rs1177039725 | 1939 | T>S | No | gnomAD | |
| rs2151308030 | 1939 | T>S | No | Ensembl | |
| rs2151308015 | 1940 | S>I | No | Ensembl | |
| rs2151308015 | 1940 | S>N | No | Ensembl | |
| rs1393039481 | 1940 | S>R | No | gnomAD | |
| rs2151308015 | 1940 | S>T | No | Ensembl | |
| rs2151308000 | 1941 | Q>H | No | Ensembl | |
| rs2151307979 | 1942 | V>A | No | Ensembl | |
| rs2151307979 | 1942 | V>E | No | Ensembl | |
| rs2151307979 | 1942 | V>G | No | Ensembl | |
| rs1190207035 | 1942 | V>L | No | gnomAD | |
| rs1190207035 | 1942 | V>M | No | gnomAD | |
| rs2151307960 | 1943 | P>A | No | Ensembl | |
| rs780545388 | 1943 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs780545388 | 1943 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs2151307960 | 1943 | P>S | No | Ensembl | |
|
RCV000681762 rs1567262786 |
1944 | A>missing | No |
ClinVar dbSNP |
|
|
rs751146607 RCV001806900 |
1944 | A>D | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs751146607 | 1944 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs2151307935 | 1944 | A>P | No | Ensembl | |
| rs2151307935 | 1944 | A>S | No | Ensembl | |
| rs2151307935 | 1944 | A>T | No | Ensembl | |
| rs751146607 | 1944 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1256287681 | 1945 | P>A | No | gnomAD | |
| rs2151307904 | 1945 | P>L | No | Ensembl | |
| rs2151307904 | 1945 | P>R | No | Ensembl | |
| rs1256287681 | 1945 | P>S | No | gnomAD | |
| rs765600316 | 1946 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs765600316 | 1946 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1321085895 | 1946 | P>S | No |
TOPMed gnomAD |
|
| rs1321085895 | 1946 | P>T | No |
TOPMed gnomAD |
|
| rs2151307847 | 1947 | P>H | No | Ensembl | |
| rs2151307847 | 1947 | P>L | No | Ensembl | |
| rs2151307847 | 1947 | P>R | No | Ensembl | |
| rs577591403 | 1947 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1231016252 | 1948 | P>A | No | gnomAD | |
| rs557611780 | 1948 | P>R | No |
1000Genomes TOPMed gnomAD |
|
| rs1231016252 | 1948 | P>S | No | gnomAD | |
| rs1380660032 | 1949 | A>S | No | gnomAD | |
| rs1380660032 | 1949 | A>T | No | gnomAD | |
| rs2051841179 | 1950 | Q>* | No | Ensembl | |
| rs2051841179 | 1950 | Q>E | No | Ensembl | |
| rs1176184150 | 1950 | Q>P | No | gnomAD | |
| rs1176184150 | 1950 | Q>R | No | gnomAD | |
| rs2151307751 | 1951 | P>L | No | Ensembl | |
| rs2151307751 | 1951 | P>R | No | Ensembl | |
| rs2151307759 | 1951 | P>S | No | Ensembl | |
| rs1303431695 | 1952 | P>H | No | gnomAD | |
| rs1303431695 | 1952 | P>L | No | gnomAD | |
| rs1303431695 | 1952 | P>R | No | gnomAD | |
| rs2151307717 | 1953 | P>A | No | Ensembl | |
| rs2051840827 | 1953 | P>L | No | gnomAD | |
| rs2051840827 | 1953 | P>R | No | gnomAD | |
| rs2151307717 | 1953 | P>S | No | Ensembl | |
| rs1170288988 | 1954 | A>P | No | gnomAD | |
| rs1170288988 | 1954 | A>S | No | gnomAD | |
| rs1170288988 | 1954 | A>T | No | gnomAD | |
| rs2151307690 | 1954 | A>V | No | Ensembl | |
| rs2151307671 | 1955 | A>G | No | Ensembl | |
| rs2051840510 | 1955 | A>P | No | TOPMed | |
| rs2151307671 | 1955 | A>V | No | Ensembl | |
| TCGA novel | 1956 | V>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151307653 | 1956 | V>A | No | Ensembl | |
| rs2151307653 | 1956 | V>E | No | Ensembl | |
| rs2151307653 | 1956 | V>G | No | Ensembl | |
| rs2151307661 | 1956 | V>M | No | Ensembl | |
| rs2151307631 | 1957 | E>* | No | Ensembl | |
| rs2151307618 | 1957 | E>D | No | Ensembl | |
| rs2151307631 | 1957 | E>K | No | Ensembl | |
| rs2151307631 | 1957 | E>Q | No | Ensembl | |
| rs986406817 | 1958 | A>E | No | gnomAD | |
| rs986406817 | 1958 | A>G | No | gnomAD | |
| rs2151307613 | 1958 | A>P | No | Ensembl | |
| rs2151307613 | 1958 | A>T | No | Ensembl | |
| rs2151307593 | 1959 | A>P | No | Ensembl | |
| rs2151307593 | 1959 | A>S | No | Ensembl | |
| rs2151307593 | 1959 | A>T | No | Ensembl | |
| rs2151307588 | 1959 | A>V | No | Ensembl | |
| rs772270271 | 1960 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs759839179 | 1960 | R>L | No |
ExAC gnomAD |
|
| rs759839179 | 1960 | R>P | No |
ExAC gnomAD |
|
| rs759839179 | 1960 | R>Q | No |
ExAC gnomAD |
|
| rs772270271 | 1960 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs2151307554 | 1961 | Q>* | No | Ensembl | |
| rs2151307554 | 1961 | Q>E | No | Ensembl | |
| rs2051839788 | 1961 | Q>H | No | Ensembl | |
| rs2151307551 | 1961 | Q>L | No | Ensembl | |
| rs2151307551 | 1961 | Q>R | No | Ensembl | |
| rs2151307538 | 1962 | I>F | No | Ensembl | |
| rs2151307538 | 1962 | I>L | No | Ensembl | |
| rs370565083 | 1962 | I>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2151307527 | 1962 | I>N | No | Ensembl | |
| rs2151307527 | 1962 | I>S | No | Ensembl | |
| rs2151307527 | 1962 | I>T | No | Ensembl | |
| rs2151307538 | 1962 | I>V | No | Ensembl | |
| rs1052651750 | 1963 | E>* | No |
TOPMed gnomAD |
|
| rs2151307503 | 1963 | E>D | No | Ensembl | |
| rs2151307511 | 1963 | E>G | No | Ensembl | |
| rs1052651750 | 1963 | E>K | No |
TOPMed gnomAD |
|
| rs1052651750 | 1963 | E>Q | No |
TOPMed gnomAD |
|
| rs2151307511 | 1963 | E>V | No | Ensembl | |
| rs1278592398 | 1964 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1278592398 | 1964 | R>G | No | TOPMed | |
|
RCV001570302 COSM1202270 rs867327595 |
1964 | R>H | large_intestine [Cosmic] | No |
cosmic curated ClinVar TOPMed dbSNP gnomAD |
| rs867327595 | 1964 | R>L | No |
TOPMed gnomAD |
|
| rs867327595 | 1964 | R>P | No |
TOPMed gnomAD |
|
| rs868301787 | 1965 | E>* | No | gnomAD | |
| rs2151307463 | 1965 | E>D | No | Ensembl | |
| rs2151307470 | 1965 | E>G | No | Ensembl | |
| rs868301787 | 1965 | E>K | No | gnomAD | |
| rs868301787 | 1965 | E>Q | No | gnomAD | |
| rs2151307470 | 1965 | E>V | No | Ensembl | |
| rs2151307450 | 1966 | A>D | No | Ensembl | |
| rs2151307450 | 1966 | A>G | No | Ensembl | |
| rs1323966864 | 1966 | A>P | No | gnomAD | |
| rs1323966864 | 1966 | A>S | No | gnomAD | |
| rs1323966864 | 1966 | A>T | No | gnomAD | |
| rs2151307450 | 1966 | A>V | No | Ensembl | |
| rs2051839273 | 1967 | Q>* | No | Ensembl | |
| rs2051839273 | 1967 | Q>E | No | Ensembl | |
| rs2151307425 | 1967 | Q>H | No | Ensembl | |
| rs2151307419 | 1968 | Q>* | No | Ensembl | |
| rs2151307419 | 1968 | Q>E | No | Ensembl | |
| rs1250438464 | 1968 | Q>H | No | TOPMed | |
| rs1567262537 | 1969 | Q>E | No | Ensembl | |
| rs2151307395 | 1969 | Q>H | No | Ensembl | |
| rs2151307388 | 1970 | Q>* | No | Ensembl | |
| rs2151307388 | 1970 | Q>E | No | Ensembl | |
| rs749069343 | 1970 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs2151307384 | 1970 | Q>L | No | Ensembl | |
| rs2151307384 | 1970 | Q>R | No | Ensembl | |
| rs777398207 | 1971 | H>D | No |
ExAC gnomAD |
|
| rs2151307354 | 1971 | H>L | No | Ensembl | |
| rs777398207 | 1971 | H>Y | No |
ExAC gnomAD |
|
| rs1410273263 | 1972 | L>M | No | gnomAD | |
| rs1750672672 | 1972 | L>P | No | Ensembl | |
| rs1410273263 | 1972 | L>V | No | gnomAD | |
| rs2151307310 | 1973 | Y>* | No | Ensembl | |
| rs2151307319 | 1973 | Y>C | No | Ensembl | |
| rs2151307327 | 1973 | Y>D | No | Ensembl | |
| rs2151307319 | 1973 | Y>F | No | Ensembl | |
| rs2151307327 | 1973 | Y>H | No | Ensembl | |
| rs2151307327 | 1973 | Y>N | No | Ensembl | |
| rs2151307319 | 1973 | Y>S | No | Ensembl | |
| rs769818976 | 1974 | R>L | No |
1000Genomes ExAC gnomAD |
|
| rs769818976 | 1974 | R>P | No |
1000Genomes ExAC gnomAD |
|
| rs769818976 | 1974 | R>Q | No |
1000Genomes ExAC gnomAD |
|
| rs1395505964 | 1974 | R>W | No | gnomAD | |
| rs2151307279 | 1975 | V>E | No | Ensembl | |
| rs2151307279 | 1975 | V>G | No | Ensembl | |
| rs2151307285 | 1975 | V>L | No | Ensembl | |
| rs2151307285 | 1975 | V>M | No | Ensembl | |
| rs1163626684 | 1976 | N>I | No | gnomAD | |
| rs1163626684 | 1976 | N>S | No | gnomAD | |
| rs754429038 | 1977 | I>T | No |
ExAC gnomAD |
|
| rs1253600516 | 1977 | I>V | No | gnomAD | |
|
rs2151307235 COSM96415 |
1978 | N>D | breast [Cosmic] | No |
cosmic curated Ensembl |
| rs112906840 | 1978 | N>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs754282387 | 1978 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs112906840 | 1978 | N>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2151307235 | 1978 | N>Y | No | Ensembl | |
| rs1489773658 | 1979 | N>I | No | gnomAD | |
| TCGA novel | 1979 | N>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1274321756 | 1979 | N>K | No | gnomAD | |
| rs1489773658 | 1979 | N>S | No | gnomAD | |
| rs1489773658 | 1979 | N>T | No | gnomAD | |
| rs764357401 | 1980 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs764357401 | 1980 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs928116392 | 1980 | S>R | No |
TOPMed gnomAD |
|
| rs1555471226 | 1980 | S>T | No | Ensembl | |
| rs1290520124 | 1981 | M>I | No | gnomAD | |
| rs2151307154 | 1981 | M>K | No | Ensembl | |
| rs2151307154 | 1981 | M>R | No | Ensembl | |
| rs2151307154 | 1981 | M>T | No | Ensembl | |
| rs2151307159 | 1981 | M>V | No | Ensembl | |
| rs376149838 | 1982 | P>A | No |
ESP ExAC gnomAD |
|
| rs2151307132 | 1982 | P>H | No | Ensembl | |
| rs2151307132 | 1982 | P>L | No | Ensembl | |
| rs376149838 | 1982 | P>S | No |
ESP ExAC gnomAD |
|
|
rs376149838 CA394554881 RCV000523145 |
1982 | P>T | No |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
| rs1326637502 | 1983 | P>A | No | gnomAD | |
| rs1388261374 | 1983 | P>L | No | gnomAD | |
| rs1388261374 | 1983 | P>Q | No | gnomAD | |
| rs1326637502 | 1983 | P>S | No | gnomAD | |
| rs2151307106 | 1984 | G>* | No | Ensembl | |
| rs2151307099 | 1984 | G>A | No | Ensembl | |
| rs2151307099 | 1984 | G>E | No | Ensembl | |
| rs2151307106 | 1984 | G>R | No | Ensembl | |
| rs767715745 | 1985 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs767715745 | 1985 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1413535883 | 1985 | R>H | No |
TOPMed gnomAD |
|
| rs1413535883 | 1985 | R>L | No |
TOPMed gnomAD |
|
| rs1159180808 | 1986 | T>A | No |
TOPMed gnomAD |
|
| rs759638164 | 1986 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs1159180808 | 1986 | T>P | No |
TOPMed gnomAD |
|
| rs759638164 | 1986 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs1159180808 | 1986 | T>S | No |
TOPMed gnomAD |
|
| rs2051836307 | 1987 | G>A | No | gnomAD | |
|
TCGA novel rs2151307056 |
1987 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2051836307 | 1987 | G>D | No | gnomAD | |
| rs2151307056 | 1987 | G>R | No | Ensembl | |
| rs2151307056 | 1987 | G>S | No | Ensembl | |
| rs2051836307 | 1987 | G>V | No | gnomAD | |
| rs2151307028 | 1988 | M>I | No | Ensembl | |
| rs1453662821 | 1988 | M>K | No | gnomAD | |
| rs1180158800 | 1988 | M>L | No |
TOPMed gnomAD |
|
| rs1453662821 | 1988 | M>R | No | gnomAD | |
| rs1453662821 | 1988 | M>T | No | gnomAD | |
| rs1180158800 | 1988 | M>V | No |
TOPMed gnomAD |
|
| rs766749781 | 1989 | G>A | No |
ExAC gnomAD |
|
| rs766749781 | 1989 | G>E | No |
ExAC gnomAD |
|
| rs2151307011 | 1989 | G>R | No | Ensembl | |
| rs766749781 | 1989 | G>V | No |
ExAC gnomAD |
|
| rs2151307011 | 1989 | G>W | No | Ensembl | |
|
RCV000120604 CA158192 rs587778213 |
1990 | T>missing | No |
ClinGen ClinVar dbSNP |
|
| rs1555471216 | 1990 | T>I | No |
TOPMed gnomAD |
|
| rs1555471216 | 1990 | T>N | No |
TOPMed gnomAD |
|
| rs1555471216 | 1990 | T>S | No |
TOPMed gnomAD |
|
| rs769407763 | 1991 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs776500881 | 1991 | P>L | No |
ExAC gnomAD |
|
| rs776500881 | 1991 | P>Q | No |
ExAC gnomAD |
|
| rs776500881 | 1991 | P>R | No |
ExAC gnomAD |
|
| rs769407763 | 1991 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs769407763 | 1991 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs2051835399 | 1992 | G>R | No | gnomAD | |
|
TCGA novel rs2051835246 |
1993 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs2151306919 | 1993 | S>I | No | Ensembl | |
| rs2151306916 | 1993 | S>R | No | Ensembl | |
| rs2151306919 | 1993 | S>T | No | Ensembl | |
| rs2151306911 | 1994 | Q>* | No | Ensembl | |
|
COSM1478866 rs746559750 |
1994 | Q>H | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC gnomAD |
| rs2151306911 | 1994 | Q>K | No | Ensembl | |
| rs2151306901 | 1994 | Q>L | No | Ensembl | |
| rs2151306883 | 1995 | M>I | No | Ensembl | |
| rs2151306888 | 1995 | M>K | No | Ensembl | |
| rs1371453440 | 1995 | M>L | No | gnomAD | |
| rs2151306888 | 1995 | M>R | No | Ensembl | |
| rs1371453440 | 1995 | M>V | No | gnomAD | |
| rs1302332843 | 1996 | A>P | No |
TOPMed gnomAD |
|
| rs1302332843 | 1996 | A>S | No |
TOPMed gnomAD |
|
|
rs1302332843 COSM3402317 |
1996 | A>T | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1390682026 | 1997 | P>A | No | gnomAD | |
| rs758101123 | 1997 | P>L | No |
ExAC gnomAD |
|
| rs1390682026 | 1997 | P>S | No | gnomAD | |
| rs1390682026 | 1997 | P>T | No | gnomAD | |
| rs1173956128 | 1998 | V>A | No | gnomAD | |
| rs1173956128 | 1998 | V>E | No | gnomAD | |
| rs1173956128 | 1998 | V>G | No | gnomAD | |
| rs756378412 | 1998 | V>L | No |
ExAC TOPMed gnomAD |
|
|
RCV001762817 rs756378412 |
1998 | V>M | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2151306814 | 1999 | S>C | No | Ensembl | |
| rs2151306814 | 1999 | S>G | No | Ensembl | |
| rs2051834458 | 1999 | S>I | No | TOPMed | |
| rs2051834458 | 1999 | S>N | No | TOPMed | |
| rs1479249205 | 1999 | S>R | No |
TOPMed gnomAD |
|
|
RCV002276394 rs2051834458 |
1999 | S>T | No |
ClinVar TOPMed dbSNP |
|
| rs1396077816 | 2000 | L>M | No | gnomAD | |
| rs1396077816 | 2000 | L>V | No | gnomAD | |
| rs1453142862 | 2001 | N>D | No | gnomAD | |
| rs1453142862 | 2001 | N>H | No | gnomAD | |
| rs200998860 | 2001 | N>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2151306769 | 2001 | N>S | No | Ensembl | |
| rs1453142862 | 2001 | N>Y | No | gnomAD | |
| rs2051833930 | 2002 | V>A | No | TOPMed | |
| rs2051833930 | 2002 | V>E | No | TOPMed | |
| rs2051833930 | 2002 | V>G | No | TOPMed | |
| rs1194053924 | 2002 | V>M | No |
TOPMed gnomAD |
|
| rs1282498604 | 2003 | P>A | No |
TOPMed gnomAD |
|
| rs1202400845 | 2003 | P>H | No |
TOPMed gnomAD |
|
| rs1202400845 | 2003 | P>L | No |
TOPMed gnomAD |
|
| rs1282498604 | 2003 | P>T | No |
TOPMed gnomAD |
|
|
rs886039331 CA10588617 RCV000256029 |
2004 | R>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1279369054 | 2004 | R>L | No |
TOPMed gnomAD |
|
| rs1279369054 | 2004 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2151306711 | 2005 | P>A | No | Ensembl | |
| rs2151306708 | 2005 | P>L | No | Ensembl | |
| rs2151306708 | 2005 | P>R | No | Ensembl | |
| rs2151306711 | 2005 | P>S | No | Ensembl | |
| rs2151306701 | 2006 | N>H | No | Ensembl | |
| rs1444185434 | 2006 | N>I | No |
TOPMed gnomAD |
|
| rs2151306686 | 2006 | N>K | No | Ensembl | |
| rs1444185434 | 2006 | N>S | No |
TOPMed gnomAD |
|
| rs1444185434 | 2006 | N>T | No |
TOPMed gnomAD |
|
| rs2151306701 | 2006 | N>Y | No | Ensembl | |
| rs2151306677 | 2007 | Q>* | No | Ensembl | |
| rs2151306677 | 2007 | Q>E | No | Ensembl | |
| rs1444108946 | 2007 | Q>H | No |
TOPMed gnomAD |
|
| rs2151306653 | 2008 | V>A | No | Ensembl | |
| rs2151306653 | 2008 | V>E | No | Ensembl | |
| rs2151306653 | 2008 | V>G | No | Ensembl | |
| rs1231751555 | 2008 | V>L | No | gnomAD | |
| rs1231751555 | 2008 | V>M | No | gnomAD | |
| rs1367320646 | 2009 | S>C | No | gnomAD | |
| rs1367320646 | 2009 | S>G | No | gnomAD | |
| rs2151306632 | 2009 | S>N | No | Ensembl | |
| rs755512058 | 2009 | S>R | No |
ExAC gnomAD |
|
| rs2151306632 | 2009 | S>T | No | Ensembl | |
| rs766553839 | 2010 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs766553839 | 2010 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs766553839 | 2010 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs751739281 | 2010 | G>W | No |
ExAC gnomAD |
|
| rs1434967341 | 2011 | P>A | No | gnomAD | |
| rs1451288396 | 2011 | P>H | No | Ensembl | |
| rs1451288396 | 2011 | P>L | No | Ensembl | |
| rs1451288396 | 2011 | P>R | No | Ensembl | |
| rs1434967341 | 2011 | P>S | No | gnomAD | |
| rs1434967341 | 2011 | P>T | No | gnomAD | |
|
RCV001269880 rs2051832768 |
2012 | V>missing | No |
ClinVar dbSNP |
|
| rs1433218994 | 2012 | V>A | No | gnomAD | |
| rs1433218994 | 2012 | V>D | No | gnomAD | |
| rs765101871 | 2012 | V>F | No |
ExAC TOPMed gnomAD |
|
| rs1433218994 | 2012 | V>G | No | gnomAD | |
| rs765101871 | 2012 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs765101871 | 2012 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs369523607 | 2013 | M>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151306545 | 2013 | M>K | No | Ensembl | |
| rs1422339560 | 2013 | M>L | No | gnomAD | |
| rs2151306545 | 2013 | M>R | No | Ensembl | |
| rs1422339560 | 2013 | M>V | No | gnomAD | |
| rs2051832309 | 2014 | P>A | No | TOPMed | |
| rs2151306526 | 2014 | P>L | No | Ensembl | |
| rs2151306526 | 2014 | P>R | No | Ensembl | |
| rs2051832309 | 2014 | P>S | No | TOPMed | |
| rs2151306508 | 2015 | S>I | No | Ensembl | |
|
rs2151306508 TCGA novel |
2015 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs1240444029 | 2015 | S>R | No |
TOPMed gnomAD |
|
| rs2151306508 | 2015 | S>T | No | Ensembl | |
| rs2151306481 | 2016 | M>I | No | Ensembl | |
| rs2151306487 | 2016 | M>K | No | Ensembl | |
| rs1189648750 | 2016 | M>L | No |
TOPMed gnomAD |
|
| rs1189648750 | 2016 | M>V | No |
TOPMed gnomAD |
|
| TCGA novel | 2017 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs368367342 | 2017 | P>H | No |
TOPMed gnomAD |
|
| rs368367342 | 2017 | P>L | No |
TOPMed gnomAD |
|
| rs368367342 | 2017 | P>R | No |
TOPMed gnomAD |
|
| rs2151306477 | 2017 | P>S | No | Ensembl | |
| rs776376788 | 2018 | P>A | No |
ExAC gnomAD |
|
| rs2151306462 | 2018 | P>H | No | Ensembl | |
| rs2151306462 | 2018 | P>L | No | Ensembl | |
| rs2151306462 | 2018 | P>R | No | Ensembl | |
| rs776376788 | 2018 | P>S | No |
ExAC gnomAD |
|
| rs771420935 | 2019 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs771420935 | 2019 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs372852842 | 2019 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs372852842 | 2019 | G>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs1213926680 | 2020 | Q>* | No | gnomAD | |
| rs1239051925 | 2020 | Q>H | No | Ensembl | |
| rs2151306421 | 2020 | Q>L | No | Ensembl | |
| rs2151306421 | 2020 | Q>R | No | Ensembl | |
|
TCGA novel rs1337306700 |
2021 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2151306406 | 2021 | W>G | No | Ensembl | |
| rs2151306406 | 2021 | W>R | No | Ensembl | |
| rs1337306700 | 2021 | W>S | No | gnomAD | |
| rs2151306389 | 2022 | Q>L | No | Ensembl | |
| rs2151306389 | 2022 | Q>R | No | Ensembl | |
| rs2151306378 | 2023 | Q>* | No | Ensembl | |
| rs2151306378 | 2023 | Q>E | No | Ensembl | |
| rs1285474641 | 2023 | Q>H | No | gnomAD | |
| rs2151306378 | 2023 | Q>K | No | Ensembl | |
| rs2151306374 | 2023 | Q>R | No | Ensembl | |
| rs745551441 | 2024 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs745551441 | 2024 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs2151306365 | 2024 | A>P | No | Ensembl | |
| rs2151306365 | 2024 | A>S | No | Ensembl | |
| rs2151306365 | 2024 | A>T | No | Ensembl | |
| rs2151306330 | 2025 | P>A | No | Ensembl | |
| rs1010580725 | 2025 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1010580725 | 2025 | P>L | No |
TOPMed gnomAD |
|
| rs1010580725 | 2025 | P>R | No |
TOPMed gnomAD |
|
|
rs2151306330 RCV001786074 |
2025 | P>S | No |
ClinVar Ensembl dbSNP |
|
| rs2151306313 | 2026 | L>F | No | Ensembl | |
| rs748565790 | 2026 | L>H | No |
ExAC TOPMed gnomAD |
|
| rs2151306313 | 2026 | L>I | No | Ensembl | |
| rs1360792517 | 2027 | P>A | No | gnomAD | |
| rs2151306291 | 2027 | P>H | No | Ensembl | |
| rs2151306291 | 2027 | P>L | No | Ensembl | |
|
TCGA novel rs1360792517 |
2027 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1360792517 | 2027 | P>T | No | gnomAD | |
| TCGA novel | 2028 | Q>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151306269 | 2029 | Q>* | No | Ensembl | |
| rs1417940613 | 2029 | Q>H | No |
TOPMed gnomAD |
|
| rs1409919285 | 2029 | Q>L | No | gnomAD | |
| rs1409919285 | 2029 | Q>P | No | gnomAD | |
| rs374969185 | 2030 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs878980888 | 2030 | Q>L | No | Ensembl | |
| rs878980888 | 2030 | Q>P | No | Ensembl | |
| rs878980888 | 2030 | Q>R | No | Ensembl | |
| rs1596784872 | 2031 | P>A | No | gnomAD | |
| rs1475564310 | 2031 | P>H | No |
TOPMed gnomAD |
|
| rs1596784872 | 2031 | P>S | No | gnomAD | |
| rs1596784872 | 2031 | P>T | No | gnomAD | |
| rs2151306196 | 2032 | M>I | No | Ensembl | |
| rs2151306205 | 2032 | M>K | No | Ensembl | |
| rs2151306205 | 2032 | M>R | No | Ensembl | |
| rs2151306205 | 2032 | M>T | No | Ensembl | |
| rs2151306191 | 2033 | P>A | No | Ensembl | |
| rs1417486603 | 2033 | P>L | No | gnomAD | |
| rs2151306191 | 2033 | P>S | No | Ensembl | |
| rs2151306191 | 2033 | P>T | No | Ensembl | |
| rs2151306171 | 2034 | G>A | No | Ensembl | |
| rs2151306171 | 2034 | G>D | No | Ensembl | |
| rs2151306177 | 2034 | G>R | No | Ensembl | |
| rs2151306177 | 2034 | G>S | No | Ensembl | |
|
TCGA novel rs2151306171 |
2034 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2151306140 | 2035 | L>* | No | Ensembl | |
| rs2151306131 | 2035 | L>F | No | Ensembl | |
| rs2151306156 | 2035 | L>M | No | Ensembl | |
| rs2151306140 | 2035 | L>S | No | Ensembl | |
| rs2151306156 | 2035 | L>V | No | Ensembl | |
| rs2151306140 | 2035 | L>W | No | Ensembl | |
|
COSM1519216 rs2051830181 |
2036 | P>A | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs2151306122 | 2036 | P>L | No | Ensembl | |
| rs2051830181 | 2036 | P>S | No | Ensembl | |
| rs1481703137 | 2037 | R>K | No | gnomAD | |
| rs1481703137 | 2037 | R>M | No | gnomAD | |
|
RCV002252612 rs1158351339 |
2037 | R>S | No |
ClinVar TOPMed dbSNP |
|
| rs1481703137 | 2037 | R>T | No | gnomAD | |
| rs2151306093 | 2038 | P>A | No | Ensembl | |
| rs2151306087 | 2038 | P>H | No | Ensembl | |
| rs2151306087 | 2038 | P>L | No | Ensembl | |
| rs2151306093 | 2038 | P>S | No | Ensembl | |
| rs2151306047 | 2039 | V>A | No | Ensembl | |
| rs2151306047 | 2039 | V>E | No | Ensembl | |
| rs2151306047 | 2039 | V>G | No | Ensembl | |
| rs1233260464 | 2039 | V>L | No | gnomAD | |
|
RCV001795629 rs1233260464 |
2039 | V>M | No |
ClinVar dbSNP gnomAD |
|
| rs766580125 | 2040 | I>K | No |
ExAC gnomAD |
|
| rs766580125 | 2040 | I>R | No |
ExAC gnomAD |
|
| rs766580125 | 2040 | I>T | No |
ExAC gnomAD |
|
| rs1377963384 | 2040 | I>V | No |
TOPMed gnomAD |
|
| rs758359901 | 2041 | S>A | No |
ExAC TOPMed gnomAD |
|
| rs2151306003 | 2041 | S>C | No | Ensembl | |
| rs2151306003 | 2041 | S>F | No | Ensembl | |
| rs758359901 | 2041 | S>P | No |
ExAC TOPMed gnomAD |
|
| rs2151306003 | 2041 | S>Y | No | Ensembl | |
| rs1233425127 | 2043 | Q>* | No | gnomAD | |
| rs1233425127 | 2043 | Q>E | No | gnomAD | |
|
TCGA novel rs2151305973 |
2043 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs2151305979 | 2043 | Q>L | No | Ensembl | |
| rs2151305979 | 2043 | Q>P | No | Ensembl | |
| rs2151305979 | 2043 | Q>R | No | Ensembl | |
| rs765415312 | 2044 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs765415312 | 2044 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs1333516070 | 2044 | A>P | No |
TOPMed gnomAD |
|
|
COSM1519217 COSM6144615 rs1333516070 |
2044 | A>S | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic TOPMed gnomAD |
| rs1333516070 | 2044 | A>T | No |
TOPMed gnomAD |
|
| rs765415312 | 2044 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs2151305935 | 2045 | Q>* | No | Ensembl | |
| rs2151305935 | 2045 | Q>E | No | Ensembl | |
| rs2151305919 | 2045 | Q>H | No | Ensembl | |
| rs2151305935 | 2045 | Q>K | No | Ensembl | |
| rs2151305929 | 2045 | Q>L | No | Ensembl | |
| rs753688167 | 2046 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs753688167 | 2046 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs2151305914 | 2046 | A>P | No | Ensembl | |
| rs753688167 | 2046 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2151305886 | 2047 | A>D | No | Ensembl | |
| rs2151305886 | 2047 | A>G | No | Ensembl | |
| rs2151305901 | 2047 | A>P | No | Ensembl | |
| rs2151305901 | 2047 | A>S | No | Ensembl | |
| rs2151305901 | 2047 | A>T | No | Ensembl | |
| rs2151305886 | 2047 | A>V | No | Ensembl | |
| rs2151305869 | 2048 | V>A | No | Ensembl | |
| rs2151305869 | 2048 | V>E | No | Ensembl | |
| rs2151305869 | 2048 | V>G | No | Ensembl | |
| rs771638045 | 2048 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs771638045 | 2048 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs756453838 | 2049 | A>D | No |
ExAC gnomAD |
|
| rs758931614 | 2049 | A>P | No |
ExAC gnomAD |
|
| rs756453838 | 2049 | A>V | No |
ExAC gnomAD |
|
| rs1417258350 | 2050 | G>A | No |
TOPMed gnomAD |
|
| rs1417258350 | 2050 | G>E | No |
TOPMed gnomAD |
|
| rs528177486 | 2050 | G>R | No |
1000Genomes ExAC gnomAD |
|
| rs1417258350 | 2050 | G>V | No |
TOPMed gnomAD |
|
| rs1421133831 | 2052 | R>G | No | gnomAD | |
| rs748936007 | 2052 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs748936007 | 2052 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs748936007 | 2052 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
COSM1202273 rs1421133831 |
2052 | R>W | large_intestine [Cosmic] | No |
cosmic curated gnomAD |
| rs2151305797 | 2053 | M>K | No | Ensembl | |
| rs781732518 | 2053 | M>L | No |
ExAC gnomAD |
|
| rs781732518 | 2053 | M>V | No |
ExAC gnomAD |
|
| rs2051828003 | 2054 | P>A | No |
TOPMed gnomAD |
|
| rs2151305787 | 2054 | P>L | No | Ensembl | |
| rs2151305787 | 2054 | P>R | No | Ensembl | |
| rs2051828003 | 2054 | P>S | No |
TOPMed gnomAD |
|
| rs2151305766 | 2055 | S>I | No | Ensembl | |
| rs2151305766 | 2055 | S>N | No | Ensembl | |
| rs2151305766 | 2055 | S>T | No | Ensembl | |
| rs1254881895 | 2056 | V>L | No | gnomAD | |
| rs1254881895 | 2056 | V>M | No | gnomAD | |
| rs1467929364 | 2057 | Q>* | No | gnomAD | |
| rs1467929364 | 2057 | Q>E | No | gnomAD | |
| rs2151305738 | 2057 | Q>L | No | Ensembl | |
| rs2151305738 | 2057 | Q>P | No | Ensembl | |
| rs2151305738 | 2057 | Q>R | No | Ensembl | |
| rs1270749985 | 2058 | P>L | No | gnomAD | |
| rs1270749985 | 2058 | P>Q | No | gnomAD | |
| rs1270749985 | 2058 | P>R | No | gnomAD | |
| rs1261434146 | 2059 | P>A | No |
TOPMed gnomAD |
|
| rs2151305714 | 2059 | P>H | No | Ensembl | |
| rs2151305714 | 2059 | P>L | No | Ensembl | |
| rs1261434146 | 2059 | P>S | No |
TOPMed gnomAD |
|
| rs1461030167 | 2060 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2151305692 | 2060 | R>K | No | Ensembl | |
| rs2151305682 | 2060 | R>S | No | Ensembl | |
| rs2151305692 | 2060 | R>T | No | Ensembl | |
| rs1461030167 | 2060 | R>W | No |
TOPMed gnomAD |
|
| rs2151305674 | 2061 | S>C | No | Ensembl | |
| rs2151305674 | 2061 | S>G | No | Ensembl | |
| rs1317185442 | 2061 | S>N | No | gnomAD | |
| rs2051827248 | 2061 | S>R | No | TOPMed | |
| rs1317185442 | 2061 | S>T | No | gnomAD | |
| rs2151305655 | 2062 | I>F | No | Ensembl | |
| rs2151305655 | 2062 | I>L | No | Ensembl | |
| rs780383901 | 2062 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs1200572057 | 2062 | I>N | No | Ensembl | |
| rs1200572057 | 2062 | I>S | No | Ensembl | |
| rs1223637225 | 2063 | S>L | No | gnomAD | |
| rs2151305639 | 2063 | S>P | No | Ensembl | |
| rs2151305639 | 2063 | S>T | No | Ensembl | |
| rs758905484 | 2064 | P>A | No |
ExAC gnomAD |
|
| rs2151305611 | 2064 | P>H | No | Ensembl | |
| rs2151305611 | 2064 | P>L | No | Ensembl | |
| rs2151305611 | 2064 | P>R | No | Ensembl | |
| rs758905484 | 2064 | P>S | No |
ExAC gnomAD |
|
| rs758905484 | 2064 | P>T | No |
ExAC gnomAD |
|
| rs2151305594 | 2065 | S>I | No | Ensembl | |
| rs2151305594 | 2065 | S>N | No | Ensembl | |
| rs2151305594 | 2065 | S>T | No | Ensembl | |
| rs2151305564 | 2066 | A>G | No | Ensembl | |
| rs1479729612 | 2066 | A>P | No |
TOPMed gnomAD |
|
| rs1479729612 | 2066 | A>S | No |
TOPMed gnomAD |
|
| rs1479729612 | 2066 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2151305564 | 2066 | A>V | No | Ensembl | |
|
rs1131691988 CA645369671 RCV000494099 |
2067 | L>missing | No |
ClinGen ClinVar dbSNP |
|
| rs2151305545 | 2067 | L>P | No | Ensembl | |
| rs2151305545 | 2067 | L>Q | No | Ensembl | |
| rs2151305545 | 2067 | L>R | No | Ensembl | |
| rs1442302909 | 2067 | L>V | No | gnomAD | |
| rs2151305534 | 2068 | Q>* | No | Ensembl | |
| rs2151305534 | 2068 | Q>E | No | Ensembl | |
| rs2151305513 | 2068 | Q>H | No | Ensembl | |
| rs2151305534 | 2068 | Q>K | No | Ensembl | |
| rs2151305521 | 2068 | Q>L | No | Ensembl | |
| rs2151305521 | 2068 | Q>P | No | Ensembl | |
| rs2151305506 | 2069 | D>A | No | Ensembl | |
| rs2151305506 | 2069 | D>G | No | Ensembl | |
| rs2151305506 | 2069 | D>V | No | Ensembl | |
| rs2151305486 | 2070 | L>P | No | Ensembl | |
| rs2151305486 | 2070 | L>Q | No | Ensembl | |
| rs2051826378 | 2070 | L>V | No | Ensembl | |
| rs753988890 | 2071 | L>M | No |
ExAC gnomAD |
|
| rs2151305469 | 2071 | L>Q | No | Ensembl | |
| rs753988890 | 2071 | L>V | No |
ExAC gnomAD |
|
| rs1346068669 | 2072 | R>G | No | gnomAD | |
|
rs1476634343 COSM266307 |
2072 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM4060696 rs1346068669 |
2072 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
CA658798524 rs1555471086 RCV000598901 |
2073 | T>* | No |
ClinGen ClinVar dbSNP |
|
| rs2151305440 | 2073 | T>I | No | Ensembl | |
| rs2151305448 | 2073 | T>P | No | Ensembl | |
| rs2151305440 | 2073 | T>S | No | Ensembl | |
| rs752666144 | 2074 | L>M | No |
ExAC TOPMed gnomAD |
|
|
rs2151305409 TCGA novel |
2074 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2151305409 | 2074 | L>Q | No | Ensembl | |
| rs2151305409 | 2074 | L>R | No | Ensembl | |
| rs752666144 | 2074 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs2151305398 | 2075 | K>* | No | Ensembl | |
| rs2151305398 | 2075 | K>E | No | Ensembl | |
| rs2151305386 | 2075 | K>N | No | Ensembl | |
| rs2151305398 | 2075 | K>Q | No | Ensembl | |
| rs2151305380 | 2076 | S>A | No | Ensembl | |
| rs2151305375 | 2076 | S>L | No | Ensembl | |
| rs2151305380 | 2076 | S>P | No | Ensembl | |
| rs2151305380 | 2076 | S>T | No | Ensembl | |
| rs2151305375 | 2076 | S>W | No | Ensembl | |
| rs1193973836 | 2077 | P>A | No | gnomAD | |
| rs2151305333 | 2077 | P>H | No | Ensembl | |
| rs2151305333 | 2077 | P>L | No | Ensembl | |
|
TCGA novel rs2151305333 |
2077 | P>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
|
rs1193973836 RCV000729839 |
2077 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA dbSNP gnomAD |
| rs1193973836 | 2077 | P>T | No | gnomAD | |
| rs2151305301 | 2078 | S>I | No | Ensembl | |
| rs2151305301 | 2078 | S>N | No | Ensembl | |
| rs752241593 | 2078 | S>R | No |
TOPMed gnomAD |
|
| rs2151305301 | 2078 | S>T | No | Ensembl | |
| rs2151305272 | 2079 | S>C | No | Ensembl | |
| rs2151305272 | 2079 | S>F | No | Ensembl | |
| rs2151305288 | 2079 | S>T | No | Ensembl | |
| rs2151305272 | 2079 | S>Y | No | Ensembl | |
| rs1251027659 | 2080 | P>A | No | gnomAD | |
| rs2151305244 | 2080 | P>H | No | Ensembl | |
| rs2151305244 | 2080 | P>L | No | Ensembl | |
| rs1251027659 | 2080 | P>S | No | gnomAD | |
| rs1251027659 | 2080 | P>T | No | gnomAD | |
| rs886041518 | 2081 | Q>E | No | Ensembl | |
| rs2151305217 | 2081 | Q>H | No | Ensembl | |
| rs2151305234 | 2081 | Q>L | No | Ensembl | |
| rs2151305234 | 2081 | Q>R | No | Ensembl | |
| rs1057518789 | 2082 | Q>E | No | Ensembl | |
| rs1187812477 | 2082 | Q>H | No | gnomAD | |
| rs1057518789 | 2082 | Q>K | No | Ensembl | |
| rs2151305203 | 2082 | Q>L | No | Ensembl | |
| rs2151305190 | 2083 | Q>* | No | Ensembl | |
| rs2151305190 | 2083 | Q>E | No | Ensembl | |
| rs2151305184 | 2083 | Q>L | No | Ensembl | |
| rs2151305184 | 2083 | Q>P | No | Ensembl | |
| rs2051825168 | 2084 | Q>E | No | Ensembl | |
| rs2051825096 | 2084 | Q>H | No | TOPMed | |
| rs2151305167 | 2084 | Q>L | No | Ensembl | |
|
COSM4060695 rs2151305146 |
2085 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2151305146 | 2085 | Q>E | No | Ensembl | |
| TCGA novel | 2085 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151305146 | 2085 | Q>K | No | Ensembl | |
| rs2151305140 | 2085 | Q>L | No | Ensembl | |
| rs2151305140 | 2085 | Q>R | No | Ensembl | |
| rs2151305121 | 2086 | V>A | No | Ensembl | |
|
rs2151305121 TCGA novel |
2086 | V>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2151305121 | 2086 | V>G | No | Ensembl | |
| rs2151305132 | 2086 | V>M | No | Ensembl | |
| rs2151305101 | 2087 | L>P | No | Ensembl | |
| rs2151305101 | 2087 | L>Q | No | Ensembl | |
| rs2151305109 | 2087 | L>V | No | Ensembl | |
| rs2151305092 | 2088 | N>D | No | Ensembl | |
| rs2151305083 | 2088 | N>I | No | Ensembl | |
| rs2151305075 | 2088 | N>K | No | Ensembl | |
| rs2151305083 | 2088 | N>S | No | Ensembl | |
| rs2151305083 | 2088 | N>T | No | Ensembl | |
| rs2151305092 | 2088 | N>Y | No | Ensembl | |
| rs2051824872 | 2089 | I>L | No | TOPMed | |
| rs2051824806 | 2089 | I>N | No | TOPMed | |
|
TCGA novel rs2051824806 |
2089 | I>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs2051824806 | 2089 | I>T | No | TOPMed | |
| rs2051824872 | 2089 | I>V | No | TOPMed | |
| rs2151305059 | 2090 | L>F | No | Ensembl | |
| rs2151305051 | 2090 | L>H | No | Ensembl | |
| rs2151305051 | 2090 | L>P | No | Ensembl | |
| rs2151305059 | 2090 | L>V | No | Ensembl | |
| rs2151305035 | 2091 | K>I | No | Ensembl | |
|
RCV001760943 rs2151305024 |
2091 | K>N | No |
ClinVar Ensembl dbSNP |
|
| rs1555471077 | 2092 | S>L | No | Ensembl | |
| rs2151305005 | 2093 | N>D | No | Ensembl | |
| rs2151305005 | 2093 | N>H | No | Ensembl | |
| rs78629035 | 2093 | N>I | No | gnomAD | |
| rs762700575 | 2093 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs78629035 | 2093 | N>S | No | gnomAD | |
| rs78629035 | 2093 | N>T | No | gnomAD | |
| rs2151305005 | 2093 | N>Y | No | Ensembl | |
| rs2151304988 | 2094 | P>A | No | Ensembl | |
| COSM970548 | 2094 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2151304988 | 2094 | P>S | No | Ensembl | |
| rs2151304988 | 2094 | P>T | No | Ensembl | |
| rs2151304968 | 2095 | Q>* | No | Ensembl | |
| rs2151304968 | 2095 | Q>E | No | Ensembl | |
| rs2151304962 | 2095 | Q>H | No | Ensembl | |
| rs2151304945 | 2096 | L>P | No | Ensembl | |
| rs2151304945 | 2096 | L>Q | No | Ensembl | |
| rs2051824412 | 2096 | L>V | No | TOPMed | |
| rs2151304922 | 2097 | M>I | No | Ensembl | |
| rs2151304934 | 2097 | M>L | No | Ensembl | |
| rs2151304929 | 2097 | M>T | No | Ensembl | |
| rs2151304918 | 2098 | A>P | No | Ensembl | |
| rs2151304918 | 2098 | A>S | No | Ensembl | |
| rs2151304918 | 2098 | A>T | No | Ensembl | |
| rs747417208 | 2099 | A>D | No |
ExAC gnomAD |
|
| rs747417208 | 2099 | A>G | No |
ExAC gnomAD |
|
| rs375378598 | 2099 | A>P | No |
ESP ExAC gnomAD |
|
| rs375378598 | 2099 | A>S | No |
ESP ExAC gnomAD |
|
| rs375378598 | 2099 | A>T | No |
ESP ExAC gnomAD |
|
| rs747417208 | 2099 | A>V | No |
ExAC gnomAD |
|
| rs2151304890 | 2100 | F>I | No | Ensembl | |
| rs2151304885 | 2100 | F>L | No | Ensembl | |
|
COSM435236 rs780441901 |
2101 | I>M | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 2101 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs772511281 | 2102 | K>* | No |
ExAC gnomAD |
|
| rs772511281 | 2102 | K>E | No |
ExAC gnomAD |
|
| rs2151304857 | 2102 | K>N | No | Ensembl | |
| rs2151304866 | 2102 | K>R | No | Ensembl | |
| rs2151304866 | 2102 | K>T | No | Ensembl | |
| rs746379340 | 2103 | Q>H | No |
ExAC gnomAD |
|
| rs1596784178 | 2103 | Q>K | No | Ensembl | |
| rs2151304844 | 2103 | Q>L | No | Ensembl | |
| rs2151304844 | 2103 | Q>P | No | Ensembl | |
| rs2151304844 | 2103 | Q>R | No | Ensembl | |
|
COSM970546 rs1489860615 |
2104 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
| rs1489860615 | 2104 | R>G | No | Ensembl | |
| rs2151304818 | 2104 | R>H | No | Ensembl | |
| rs2151304818 | 2104 | R>L | No | Ensembl | |
|
rs2151304818 COSM3509551 |
2104 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs1489860615 | 2104 | R>S | No | Ensembl | |
| rs778859685 | 2105 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs2151304799 | 2105 | T>I | No | Ensembl | |
| rs778859685 | 2105 | T>P | No |
ExAC TOPMed gnomAD |
|
| rs2151304799 | 2105 | T>R | No | Ensembl | |
| rs778859685 | 2105 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs2151304779 | 2106 | A>D | No | Ensembl | |
| rs2151304779 | 2106 | A>G | No | Ensembl | |
| rs2151304779 | 2106 | A>V | No | Ensembl | |
| rs2151304762 | 2107 | K>M | No | Ensembl | |
| rs2151304753 | 2107 | K>N | No | Ensembl | |
| rs2051823680 | 2107 | K>Q | No | gnomAD | |
| rs2151304734 | 2108 | Y>C | No | Ensembl | |
| rs2151304743 | 2108 | Y>D | No | Ensembl | |
| rs2151304734 | 2108 | Y>F | No | Ensembl | |
| rs2151304743 | 2108 | Y>H | No | Ensembl | |
| rs2151304743 | 2108 | Y>N | No | Ensembl | |
| rs2151304734 | 2108 | Y>S | No | Ensembl | |
| rs2151304706 | 2109 | V>A | No | Ensembl | |
| rs2151304706 | 2109 | V>E | No | Ensembl | |
| rs2151304706 | 2109 | V>G | No | Ensembl | |
| rs1174069554 | 2109 | V>L | No |
TOPMed gnomAD |
|
|
RCV001585473 rs1174069554 |
2109 | V>M | No |
ClinVar TOPMed dbSNP gnomAD |
|
|
rs1407363475 RCV000722371 |
2110 | A>D | No |
ClinVar TOPMed dbSNP gnomAD |
|
|
rs1407363475 RCV001758285 |
2110 | A>G | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1433842236 | 2110 | A>P | No |
TOPMed gnomAD |
|
| rs1433842236 | 2110 | A>S | No |
TOPMed gnomAD |
|
| rs1433842236 | 2110 | A>T | No |
TOPMed gnomAD |
|
| rs1407363475 | 2110 | A>V | No |
TOPMed gnomAD |
|
| rs754085674 | 2111 | N>H | No |
ExAC gnomAD |
|
| rs149930719 | 2111 | N>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs756300755 | 2111 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs149930719 | 2111 | N>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs149930719 | 2111 | N>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2151304657 | 2112 | Q>* | No | Ensembl | |
| rs2151304657 | 2112 | Q>E | No | Ensembl | |
| rs2151304643 | 2112 | Q>H | No | Ensembl | |
| rs2151304657 | 2112 | Q>K | No | Ensembl | |
| rs2151304650 | 2112 | Q>L | No | Ensembl | |
| rs2151304650 | 2112 | Q>P | No | Ensembl | |
| rs2151304650 | 2112 | Q>R | No | Ensembl | |
| rs1064796746 | 2113 | P>A | No | TOPMed | |
| rs2151304622 | 2113 | P>H | No | Ensembl | |
| rs2151304622 | 2113 | P>L | No | Ensembl | |
| rs2151304622 | 2113 | P>R | No | Ensembl | |
| rs1064796746 | 2113 | P>S | No | TOPMed | |
|
CA16620195 rs1064796746 RCV000482556 |
2113 | P>T | No |
ClinGen ClinVar TOPMed dbSNP |
|
| rs754938151 | 2114 | G>A | No |
ExAC gnomAD |
|
| rs139169188 | 2114 | G>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs754938151 | 2114 | G>D | No |
ExAC gnomAD |
|
| rs139169188 | 2114 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs754938151 | 2114 | G>V | No |
ExAC gnomAD |
|
| rs2151304571 | 2115 | M>I | No | Ensembl | |
| rs2151304577 | 2115 | M>K | No | Ensembl | |
| rs150774470 | 2115 | M>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151304577 | 2115 | M>T | No | Ensembl | |
| rs150774470 | 2115 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151304567 | 2116 | Q>* | No | Ensembl | |
| rs2151304567 | 2116 | Q>E | No | Ensembl | |
| rs2151304553 | 2116 | Q>H | No | Ensembl | |
| rs2151304567 | 2116 | Q>K | No | Ensembl | |
| rs2051822425 | 2116 | Q>L | No | Ensembl | |
| rs2051822425 | 2116 | Q>P | No | Ensembl | |
| rs2051822425 | 2116 | Q>R | No | Ensembl | |
| rs2051822340 | 2117 | P>A | No | Ensembl | |
| rs2151304535 | 2117 | P>R | No | Ensembl | |
| rs2051822340 | 2117 | P>S | No | Ensembl | |
| rs762511335 | 2118 | Q>H | No |
ExAC gnomAD |
|
| rs2151304510 | 2119 | P>A | No | Ensembl | |
| rs2151304503 | 2119 | P>L | No | Ensembl | |
| rs2151304503 | 2119 | P>R | No | Ensembl | |
| rs2151304510 | 2119 | P>S | No | Ensembl | |
| rs2151304510 | 2119 | P>T | No | Ensembl | |
| rs2151304485 | 2120 | G>A | No | Ensembl | |
| rs2151304485 | 2120 | G>D | No | Ensembl | |
| rs2151304490 | 2120 | G>R | No | Ensembl | |
| rs2151304490 | 2120 | G>S | No | Ensembl | |
| rs772816432 | 2121 | L>F | No |
ExAC gnomAD |
|
| rs2051821822 | 2121 | L>H | No | Ensembl | |
| rs772816432 | 2121 | L>I | No |
ExAC gnomAD |
|
| rs2051821822 | 2121 | L>P | No | Ensembl | |
| rs2151304458 | 2122 | Q>* | No | Ensembl | |
| rs765028953 | 2122 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs2151304432 | 2123 | S>A | No | Ensembl | |
| rs2151304418 | 2123 | S>C | No | Ensembl | |
| rs2151304418 | 2123 | S>F | No | Ensembl | |
| rs2151304432 | 2123 | S>P | No | Ensembl | |
| rs2151304432 | 2123 | S>T | No | Ensembl | |
| rs2151304418 | 2123 | S>Y | No | Ensembl | |
| rs936693997 | 2124 | Q>H | No | TOPMed | |
| rs2151304405 | 2124 | Q>R | No | Ensembl | |
| rs2151304383 | 2125 | P>A | No | Ensembl | |
| rs2051821409 | 2125 | P>H | No | TOPMed | |
| rs2051821409 | 2125 | P>L | No | TOPMed | |
| rs2051821409 | 2125 | P>R | No | TOPMed | |
| rs2151304383 | 2125 | P>S | No | Ensembl | |
| rs2051821082 | 2126 | G>A | No | Ensembl | |
| rs200780672 | 2126 | G>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2051821082 | 2126 | G>D | No | Ensembl | |
| rs200780672 | 2126 | G>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs200780672 | 2126 | G>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2051821082 | 2126 | G>V | No | Ensembl | |
| rs2051820955 | 2127 | M>I | No | Ensembl | |
| rs2151304348 | 2127 | M>K | No | Ensembl | |
| rs2151304335 | 2128 | Q>* | No | Ensembl | |
| rs2151304335 | 2128 | Q>E | No | Ensembl | |
| rs2051820784 | 2128 | Q>H | No | Ensembl | |
| rs2151304322 | 2128 | Q>L | No | Ensembl | |
| rs2151304322 | 2128 | Q>P | No | Ensembl | |
| rs2151304311 | 2129 | P>H | No | Ensembl | |
| rs2151304311 | 2129 | P>L | No | Ensembl | |
| rs2051820546 | 2130 | Q>H | No | TOPMed | |
| rs749413614 | 2130 | Q>L | No |
ExAC gnomAD |
|
| rs749413614 | 2130 | Q>R | No |
ExAC gnomAD |
|
| rs777811522 | 2131 | P>A | No |
ExAC gnomAD |
|
| rs2051820420 | 2131 | P>H | No | TOPMed | |
| rs2051820420 | 2131 | P>L | No | TOPMed | |
| rs2051820420 | 2131 | P>R | No | TOPMed | |
| rs777811522 | 2131 | P>S | No |
ExAC gnomAD |
|
| rs1373398258 | 2132 | G>A | No | gnomAD | |
| rs2151304263 | 2132 | G>C | No | Ensembl | |
| rs1373398258 | 2132 | G>D | No | gnomAD | |
| rs2151304263 | 2132 | G>R | No | Ensembl | |
| rs2151304263 | 2132 | G>S | No | Ensembl | |
| rs1373398258 | 2132 | G>V | No | gnomAD | |
|
rs1462453767 RCV001767708 |
2133 | M>I | No |
ClinVar dbSNP gnomAD |
|
| rs1187864892 | 2133 | M>K | No | gnomAD | |
| rs1187864892 | 2133 | M>T | No | gnomAD | |
| rs2051820069 | 2133 | M>V | No | Ensembl | |
| rs2151304211 | 2134 | H>L | No | Ensembl | |
| rs2151304211 | 2134 | H>P | No | Ensembl | |
| rs2151304211 | 2134 | H>R | No | Ensembl | |
|
TCGA novel rs2151304231 |
2134 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2151304199 | 2135 | Q>* | No | Ensembl | |
| rs2151304199 | 2135 | Q>E | No | Ensembl | |
| rs2151304186 | 2135 | Q>H | No | Ensembl | |
| rs2151304199 | 2135 | Q>K | No | Ensembl | |
| rs2151304182 | 2136 | Q>* | No | Ensembl | |
| rs2151304182 | 2136 | Q>E | No | Ensembl | |
| rs2051819604 | 2136 | Q>H | No | Ensembl | |
| rs2151304176 | 2136 | Q>L | No | Ensembl | |
| rs2151304158 | 2137 | P>A | No | Ensembl | |
| rs2051819541 | 2137 | P>H | No | Ensembl | |
| rs2051819541 | 2137 | P>L | No | Ensembl | |
| rs2051819541 | 2137 | P>R | No | Ensembl | |
| rs2151304158 | 2137 | P>S | No | Ensembl | |
| rs2151304158 | 2137 | P>T | No | Ensembl | |
| TCGA novel | 2138 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151304144 | 2138 | S>N | No | Ensembl | |
| rs756387018 | 2138 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs2151304144 | 2138 | S>T | No | Ensembl | |
| rs2051819317 | 2139 | L>R | No | TOPMed | |
| rs2151304119 | 2140 | Q>E | No | Ensembl | |
| rs1475892425 | 2140 | Q>L | No |
TOPMed gnomAD |
|
| rs1475892425 | 2140 | Q>R | No |
TOPMed gnomAD |
|
| rs2051818876 | 2141 | N>D | No | Ensembl | |
| rs2151304093 | 2141 | N>I | No | Ensembl | |
| rs780854046 | 2141 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs2151304093 | 2141 | N>S | No | Ensembl | |
| rs2151304093 | 2141 | N>T | No | Ensembl | |
|
rs2051818747 COSM970544 |
2142 | L>M | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
| rs2151304071 | 2142 | L>P | No | Ensembl | |
| rs2051818747 | 2142 | L>V | No | TOPMed | |
| rs2151304057 | 2143 | N>I | No | Ensembl | |
| rs754745819 | 2143 | N>K | No |
ExAC gnomAD |
|
|
COSM4920089 rs2151304057 |
2143 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2151304057 | 2143 | N>T | No | Ensembl | |
| rs1254533716 | 2144 | A>G | No | gnomAD | |
| rs751482596 | 2144 | A>T | No |
ExAC gnomAD |
|
|
COSM4060693 rs1254533716 |
2144 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs750009310 | 2145 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs758386187 | 2145 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs1366973284 | 2145 | M>T | No |
TOPMed gnomAD |
|
| rs1596783639 | 2146 | Q>E | No | Ensembl | |
| rs1216936753 | 2146 | Q>H | No | gnomAD | |
| rs1567261288 | 2146 | Q>P | No | Ensembl | |
| rs2151303982 | 2147 | A>G | No | Ensembl | |
| rs2151303987 | 2147 | A>P | No | Ensembl | |
| rs2151303987 | 2147 | A>T | No | Ensembl | |
| rs2151303982 | 2147 | A>V | No | Ensembl | |
| rs1293915714 | 2148 | G>A | No | gnomAD | |
| rs764832613 | 2148 | G>C | No |
ExAC gnomAD |
|
| rs1293915714 | 2148 | G>D | No | gnomAD | |
| rs764832613 | 2148 | G>R | No |
ExAC gnomAD |
|
| rs764832613 | 2148 | G>S | No |
ExAC gnomAD |
|
| rs1293915714 | 2148 | G>V | No | gnomAD | |
| rs2151303943 | 2149 | V>E | No | Ensembl | |
| rs2151303943 | 2149 | V>G | No | Ensembl | |
| rs147448293 | 2149 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs759908211 | 2150 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs587783512 | 2150 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs587783512 | 2150 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs759908211 | 2150 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs759908211 | 2150 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs1361732490 | 2151 | R>G | No |
TOPMed gnomAD |
|
| rs749783719 | 2151 | R>L | No |
ExAC TOPMed gnomAD |
|
|
rs749783719 RCV000177561 CA243771 |
2151 | R>P | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs749783719 COSM1249110 |
2151 | R>Q | oesophagus [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
|
rs1361732490 COSM178780 |
2151 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1474037583 | 2152 | P>L | No | gnomAD | |
| rs1474037583 | 2152 | P>R | No | gnomAD | |
| rs2151303865 | 2153 | G>A | No | Ensembl | |
| rs370693698 | 2153 | G>C | No |
ExAC TOPMed gnomAD |
|
| rs2151303865 | 2153 | G>D | No | Ensembl | |
| rs370693698 | 2153 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs370693698 | 2153 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs2151303857 | 2154 | V>E | No | Ensembl | |
| rs2151303857 | 2154 | V>G | No | Ensembl | |
| rs781434722 | 2154 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs781434722 | 2154 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs755124235 | 2155 | P>A | No |
ExAC gnomAD |
|
| rs1470176774 | 2155 | P>H | No | gnomAD | |
| rs1470176774 | 2155 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1470176774 | 2155 | P>R | No | gnomAD | |
| rs755124235 | 2155 | P>S | No |
ExAC gnomAD |
|
| rs755124235 | 2155 | P>T | No |
ExAC gnomAD |
|
| rs2151303831 | 2156 | P>A | No | Ensembl | |
| rs2151303823 | 2156 | P>L | No | Ensembl | |
| rs2151303823 | 2156 | P>Q | No | Ensembl | |
| rs2151303823 | 2156 | P>R | No | Ensembl | |
| rs2151303831 | 2156 | P>S | No | Ensembl | |
| rs2151303831 | 2156 | P>T | No | Ensembl | |
| rs2151303806 | 2157 | Q>* | No | Ensembl | |
| rs2151303806 | 2157 | Q>E | No | Ensembl | |
| rs2151303785 | 2157 | Q>H | No | Ensembl | |
| rs2151303806 | 2157 | Q>K | No | Ensembl | |
| rs2151303796 | 2157 | Q>L | No | Ensembl | |
| rs2151303796 | 2157 | Q>R | No | Ensembl | |
| rs2151303780 | 2158 | Q>* | No | Ensembl | |
| rs2151303780 | 2158 | Q>E | No | Ensembl | |
| rs1183867228 | 2158 | Q>H | No | Ensembl | |
| rs2151303780 | 2158 | Q>K | No | Ensembl | |
| rs2051816277 | 2158 | Q>L | No | Ensembl | |
| rs2051816277 | 2158 | Q>P | No | Ensembl | |
| rs2051816277 | 2158 | Q>R | No | Ensembl | |
| rs2151303760 | 2159 | Q>* | No | Ensembl | |
| rs2151303760 | 2159 | Q>E | No | Ensembl | |
| rs2151303752 | 2159 | Q>H | No | Ensembl | |
| rs2151303760 | 2159 | Q>K | No | Ensembl | |
| rs779980394 | 2160 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs1213106224 | 2160 | A>P | No | gnomAD | |
| rs1213106224 | 2160 | A>T | No | gnomAD | |
| rs779980394 | 2160 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs555129689 | 2161 | M>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2151303711 | 2161 | M>K | No | Ensembl | |
| rs1030655029 | 2161 | M>L | No |
TOPMed gnomAD |
|
| rs2151303711 | 2161 | M>R | No | Ensembl | |
| rs1030655029 | 2161 | M>V | No |
TOPMed gnomAD |
|
| rs2151303697 | 2162 | G>* | No | Ensembl | |
| rs1401593486 | 2162 | G>A | No | TOPMed | |
| rs1401593486 | 2162 | G>E | No | TOPMed | |
| rs2151303697 | 2162 | G>R | No | Ensembl | |
| rs1306729685 | 2163 | G>A | No | gnomAD | |
| rs2051815843 | 2163 | G>C | No | gnomAD | |
| rs1306729685 | 2163 | G>D | No | gnomAD | |
| rs2051815843 | 2163 | G>S | No | gnomAD | |
| rs766714742 | 2164 | L>M | No |
ExAC TOPMed gnomAD |
|
| rs766714742 | 2164 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs2151303651 | 2165 | N>D | No | Ensembl | |
| rs2151303651 | 2165 | N>H | No | Ensembl | |
| rs2151303639 | 2165 | N>I | No | Ensembl | |
| rs2151303633 | 2165 | N>K | No | Ensembl | |
| rs2151303639 | 2165 | N>S | No | Ensembl | |
| rs2151303639 | 2165 | N>T | No | Ensembl | |
| rs2151303651 | 2165 | N>Y | No | Ensembl | |
| rs2151303623 | 2166 | P>A | No | Ensembl | |
| rs2151303620 | 2166 | P>L | No | Ensembl | |
| rs2151303620 | 2166 | P>R | No | Ensembl | |
| rs2151303623 | 2166 | P>S | No | Ensembl | |
| rs2151303623 | 2166 | P>T | No | Ensembl | |
| rs143030370 | 2167 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151303586 | 2168 | G>A | No | Ensembl | |
| rs2051815373 | 2168 | G>C | No | TOPMed | |
| rs2151303586 | 2168 | G>D | No | Ensembl | |
| rs2051815373 | 2168 | G>R | No | TOPMed | |
| rs2051815373 | 2168 | G>S | No | TOPMed | |
| rs2151303586 | 2168 | G>V | No | Ensembl | |
| rs1403072955 | 2169 | Q>H | No |
TOPMed gnomAD |
|
| rs2151303568 | 2169 | Q>L | No | Ensembl | |
| rs2051815160 | 2170 | A>D | No | TOPMed | |
| rs2051815160 | 2170 | A>G | No | TOPMed | |
| rs753468490 | 2170 | A>P | No |
ExAC gnomAD |
|
| rs753468490 | 2170 | A>S | No |
ExAC gnomAD |
|
| rs753468490 | 2170 | A>T | No |
ExAC gnomAD |
|
| rs2051815160 | 2170 | A>V | No | TOPMed | |
| rs2151303530 | 2171 | L>* | No | Ensembl | |
| rs2151303530 | 2171 | L>S | No | Ensembl | |
| rs2151303522 | 2172 | N>D | No | Ensembl | |
| rs1316056564 | 2172 | N>I | No |
TOPMed gnomAD |
|
| rs763852812 | 2172 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs1316056564 | 2172 | N>T | No |
TOPMed gnomAD |
|
| rs2151303522 | 2172 | N>Y | No | Ensembl | |
| rs2051814783 | 2173 | I>F | No | TOPMed | |
| rs572471926 | 2173 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA gnomAD |
| rs534834585 | 2173 | I>N | No |
1000Genomes ExAC gnomAD |
|
| rs534834585 | 2173 | I>T | No |
1000Genomes ExAC gnomAD |
|
| rs2051814783 | 2173 | I>V | No | TOPMed | |
| rs2151303479 | 2174 | M>I | No | Ensembl | |
| rs1314220845 | 2174 | M>K | No | Ensembl | |
| rs1455992554 | 2174 | M>L | No |
TOPMed gnomAD |
|
| rs1314220845 | 2174 | M>T | No | Ensembl | |
| rs1455992554 | 2174 | M>V | No |
TOPMed gnomAD |
|
| rs2151303472 | 2175 | N>H | No | Ensembl | |
| rs587778214 | 2175 | N>I | No |
ExAC TOPMed gnomAD |
|
| rs1232941309 | 2175 | N>K | No | gnomAD | |
| rs587778214 | 2175 | N>T | No |
ExAC TOPMed gnomAD |
|
| rs773651163 | 2176 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs1281842975 | 2176 | P>L | No | TOPMed | |
| rs1281842975 | 2176 | P>Q | No | TOPMed | |
| rs1281842975 | 2176 | P>R | No | TOPMed | |
| rs773651163 | 2176 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs773651163 | 2176 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs2051814083 | 2177 | G>* | No | Ensembl | |
| rs2051814083 | 2177 | G>R | No | Ensembl | |
| rs2151303415 | 2178 | H>D | No | Ensembl | |
| rs2051813995 | 2178 | H>L | No | TOPMed | |
| rs2051813995 | 2178 | H>P | No | TOPMed | |
| rs2151303393 | 2178 | H>Q | No | Ensembl | |
| rs2151303415 | 2178 | H>Y | No | Ensembl | |
| rs2151303384 | 2179 | N>D | No | Ensembl | |
| rs769885422 | 2179 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs1449927871 | 2179 | N>T | No | gnomAD | |
| rs761992793 | 2180 | P>A | No |
ExAC gnomAD |
|
| rs2151303351 | 2180 | P>H | No | Ensembl | |
| rs2151303351 | 2180 | P>L | No | Ensembl | |
| rs2151303351 | 2180 | P>R | No | Ensembl | |
| rs761992793 | 2180 | P>S | No |
ExAC gnomAD |
|
| rs761992793 | 2180 | P>T | No |
ExAC gnomAD |
|
| rs768978068 | 2181 | N>I | No |
ExAC gnomAD |
|
| rs768978068 | 2181 | N>S | No |
ExAC gnomAD |
|
| rs2151303320 | 2182 | M>I | No | Ensembl | |
| rs2151303327 | 2182 | M>K | No | Ensembl | |
| rs2151303327 | 2182 | M>T | No | Ensembl | |
| rs747190538 | 2182 | M>V | No |
ExAC gnomAD |
|
| rs779996604 | 2183 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs2151303310 | 2183 | A>P | No | Ensembl | |
| rs2151303310 | 2183 | A>S | No | Ensembl | |
| rs2151303310 | 2183 | A>T | No | Ensembl | |
| rs779996604 | 2183 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs398124149 | 2184 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs1459540193 | 2184 | S>I | No | TOPMed | |
| rs1459540193 | 2184 | S>N | No | TOPMed | |
| rs745817994 | 2184 | S>R | No |
ExAC gnomAD |
|
| rs1459540193 | 2184 | S>T | No | TOPMed | |
|
TCGA novel rs2151303245 |
2185 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs778950613 | 2185 | M>K | No |
ExAC gnomAD |
|
| rs1327686926 | 2185 | M>L | No |
TOPMed gnomAD |
|
| rs778950613 | 2185 | M>T | No |
ExAC gnomAD |
|
| rs1327686926 | 2185 | M>V | No |
TOPMed gnomAD |
|
| rs757115356 | 2186 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs2151303227 | 2186 | N>K | No | Ensembl | |
| rs1358192617 | 2186 | N>S | No | gnomAD | |
| rs757115356 | 2186 | N>Y | No |
ExAC TOPMed gnomAD |
|
| rs2151303211 | 2187 | P>A | No | Ensembl | |
| rs760836018 | 2187 | P>L | No | gnomAD | |
| rs760836018 | 2187 | P>Q | No | gnomAD | |
| rs760836018 | 2187 | P>R | No | gnomAD | |
| rs2151303211 | 2187 | P>T | No | Ensembl | |
| rs2151303185 | 2188 | Q>* | No | Ensembl | |
| rs2151303185 | 2188 | Q>E | No | Ensembl | |
| rs73491896 | 2188 | Q>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2151303185 | 2188 | Q>K | No | Ensembl | |
| rs777137937 | 2189 | Y>* | No |
ExAC gnomAD |
|
| rs2151303157 | 2189 | Y>C | No | Ensembl | |
| rs2151303165 | 2189 | Y>D | No | Ensembl | |
| rs2151303157 | 2189 | Y>F | No | Ensembl | |
| rs2151303165 | 2189 | Y>H | No | Ensembl | |
| rs2151303165 | 2189 | Y>N | No | Ensembl | |
| rs2151303145 | 2190 | R>* | No | Ensembl | |
| rs2151303145 | 2190 | R>G | No | Ensembl | |
| rs2051812656 | 2190 | R>L | No | gnomAD | |
| rs2051812656 | 2190 | R>P | No | gnomAD | |
| rs2051812656 | 2190 | R>Q | No | gnomAD | |
| rs2151303119 | 2191 | E>* | No | Ensembl | |
| rs2151303108 | 2191 | E>D | No | Ensembl | |
| rs2051812588 | 2191 | E>G | No | TOPMed | |
| rs2151303119 | 2191 | E>K | No | Ensembl | |
| rs2151303119 | 2191 | E>Q | No | Ensembl | |
| rs2051812588 | 2191 | E>V | No | TOPMed | |
| rs755864452 | 2192 | M>I | No |
ExAC gnomAD |
|
| rs2151303096 | 2192 | M>V | No | Ensembl | |
| rs2151303077 | 2193 | L>* | No | Ensembl | |
| rs2151303082 | 2193 | L>I | No | Ensembl | |
| rs2151303077 | 2193 | L>S | No | Ensembl | |
| rs2151303082 | 2193 | L>V | No | Ensembl | |
| rs763255288 | 2194 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs766744145 | 2194 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1446676452 | 2195 | R>S | No |
TOPMed gnomAD |
|
| rs2151303048 | 2195 | R>T | No | Ensembl | |
| rs2151303022 | 2196 | Q>* | No | Ensembl | |
| rs2151303022 | 2196 | Q>E | No | Ensembl | |
| rs2151303001 | 2196 | Q>H | No | Ensembl | |
| rs2151303022 | 2196 | Q>K | No | Ensembl | |
| rs2151303011 | 2196 | Q>L | No | Ensembl | |
| rs2151303011 | 2196 | Q>P | No | Ensembl | |
| rs750753767 | 2197 | L>M | No |
ExAC gnomAD |
|
| rs2151302983 | 2197 | L>P | No | Ensembl | |
| rs2151302983 | 2197 | L>Q | No | Ensembl | |
| rs2151302983 | 2197 | L>R | No | Ensembl | |
| rs750753767 | 2197 | L>V | No |
ExAC gnomAD |
|
| rs2051811996 | 2198 | L>P | No | gnomAD | |
| rs2051811996 | 2198 | L>Q | No | gnomAD | |
| rs2051811996 | 2198 | L>R | No | gnomAD | |
| rs2051812072 | 2198 | L>V | No | Ensembl | |
| rs2151302951 | 2199 | Q>* | No | Ensembl | |
| rs2151302951 | 2199 | Q>E | No | Ensembl | |
| rs1567260832 | 2199 | Q>H | No | Ensembl | |
| TCGA novel | 2199 | Q>H | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2051811675 | 2200 | Q>* | No | Ensembl | |
| rs2051811675 | 2200 | Q>E | No | Ensembl | |
| rs1596782997 | 2200 | Q>H | No | TOPMed | |
| rs538605698 | 2200 | Q>L | No |
1000Genomes ExAC gnomAD |
|
| rs2051811472 | 2201 | Q>* | No | Ensembl | |
| rs2051811472 | 2201 | Q>E | No | Ensembl | |
| rs570415368 | 2201 | Q>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2051811472 | 2201 | Q>K | No | Ensembl | |
| rs2151302900 | 2202 | Q>* | No | Ensembl | |
| rs2151302900 | 2202 | Q>E | No | Ensembl | |
| rs1217419504 | 2202 | Q>H | No | gnomAD | |
| rs2151302896 | 2202 | Q>L | No | Ensembl | |
| rs2151302896 | 2202 | Q>R | No | Ensembl | |
| rs2151302886 | 2203 | Q>* | No | Ensembl | |
| rs2151302886 | 2203 | Q>E | No | Ensembl | |
| rs2151302839 | 2204 | Q>* | No | Ensembl | |
| rs2151302839 | 2204 | Q>E | No | Ensembl | |
| rs903906594 | 2204 | Q>H | No | gnomAD | |
| rs2151302821 | 2204 | Q>P | No | Ensembl | |
| rs2151302821 | 2204 | Q>R | No | Ensembl | |
| rs2151302793 | 2205 | Q>* | No | Ensembl | |
| rs2151302793 | 2205 | Q>E | No | Ensembl | |
| rs2151302779 | 2205 | Q>H | No | Ensembl | |
| rs2151302793 | 2205 | Q>K | No | Ensembl | |
| rs1241067525 | 2205 | Q>L | No |
TOPMed gnomAD |
|
| rs1241067525 | 2205 | Q>R | No |
TOPMed gnomAD |
|
| rs2151302773 | 2206 | Q>* | No | Ensembl | |
| rs2151302773 | 2206 | Q>E | No | Ensembl | |
| rs2151302762 | 2206 | Q>H | No | Ensembl | |
| rs2151302773 | 2206 | Q>K | No | Ensembl | |
|
RCV001761146 rs2051809059 |
2206 | Q>missing | No |
ClinVar dbSNP |
|
| rs1270302797 | 2207 | Q>* | No | gnomAD | |
| rs1270302797 | 2207 | Q>E | No | gnomAD | |
| rs2151302735 | 2207 | Q>L | No | Ensembl | |
| rs2151302735 | 2207 | Q>P | No | Ensembl | |
| rs2151302722 | 2208 | Q>E | No | Ensembl | |
| rs760988505 | 2209 | Q>* | No | ExAC | |
| rs760988505 | 2209 | Q>E | No | ExAC | |
| rs2151302659 | 2209 | Q>L | No | Ensembl | |
| rs2151302659 | 2209 | Q>R | No | Ensembl | |
| rs2151302645 | 2210 | Q>* | No | Ensembl | |
| rs2151302645 | 2210 | Q>E | No | Ensembl | |
| rs1444680119 | 2210 | Q>H | No |
TOPMed gnomAD |
|
| rs2151302645 | 2210 | Q>K | No | Ensembl | |
| rs1226021314 | 2210 | Q>P | No | gnomAD | |
| rs1226021314 | 2210 | Q>R | No | gnomAD | |
| rs2151302623 | 2211 | Q>* | No | Ensembl | |
| rs2151302623 | 2211 | Q>E | No | Ensembl | |
| rs772020678 | 2211 | Q>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2151302623 | 2211 | Q>K | No | Ensembl | |
| rs2151302609 | 2211 | Q>L | No | Ensembl | |
|
RCV000616389 CA620714433 rs1555470941 |
2212 | Q>missing | No |
ClinGen ClinVar dbSNP |
|
| rs2151302578 | 2213 | Q>R | No | Ensembl | |
| rs2151302585 | 2213 | Q>* | No | Ensembl | |
| rs2151302585 | 2213 | Q>E | No | Ensembl | |
|
RCV000481748 CA7869044 rs746989288 |
2214 | Q>missing | No |
ClinGen ClinVar dbSNP |
|
| rs2094233859 | 2214 | Q>* | No | TOPMed | |
| rs2094233859 | 2214 | Q>E | No | TOPMed | |
| rs2094233859 | 2214 | Q>K | No | TOPMed | |
| rs2151302560 | 2214 | Q>L | No | Ensembl | |
| rs548345138 | 2215 | Q>* | No |
1000Genomes ExAC gnomAD |
|
| rs548345138 | 2215 | Q>E | No |
1000Genomes ExAC gnomAD |
|
| rs1326689659 | 2215 | Q>H | No | TOPMed | |
|
rs746121736 RCV000722471 |
2216 | Q>missing | No |
ClinVar dbSNP |
|
| rs2151302524 | 2216 | Q>* | No | Ensembl | |
| rs2151302524 | 2216 | Q>E | No | Ensembl | |
| rs2151302495 | 2217 | G>E | No | Ensembl | |
| rs778833800 | 2217 | G>R | No |
ExAC gnomAD |
|
| rs2151302495 | 2217 | G>V | No | Ensembl | |
| rs778833800 | 2217 | G>W | No |
ExAC gnomAD |
|
| rs2151302483 | 2218 | S>C | No | Ensembl | |
| rs2151302483 | 2218 | S>G | No | Ensembl | |
| rs2051807545 | 2218 | S>N | No | Ensembl | |
| rs2151302476 | 2218 | S>R | No | Ensembl | |
| rs150461438 | 2219 | A>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151302473 | 2219 | A>T | No | Ensembl | |
| rs2151302437 | 2220 | G>A | No | Ensembl | |
| rs141184151 | 2220 | G>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151302437 | 2220 | G>D | No | Ensembl | |
| rs141184151 | 2220 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151302437 | 2220 | G>V | No | Ensembl | |
| rs2051807026 | 2221 | M>I | No | TOPMed | |
| rs2151302421 | 2221 | M>K | No | Ensembl | |
| rs2151302421 | 2221 | M>R | No | Ensembl | |
|
COSM4060691 rs200716582 |
2221 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ESP ExAC TOPMed gnomAD |
| rs2151302397 | 2222 | A>G | No | Ensembl | |
| rs1596782515 | 2222 | A>P | No | TOPMed | |
| rs1596782515 | 2222 | A>S | No | TOPMed | |
| rs1596782515 | 2222 | A>T | No | TOPMed | |
| rs1030728642 | 2223 | G>A | No |
TOPMed gnomAD |
|
| rs1030728642 | 2223 | G>E | No |
TOPMed gnomAD |
|
| rs1483012656 | 2223 | G>R | No | TOPMed | |
| rs1030728642 | 2223 | G>V | No |
TOPMed gnomAD |
|
| rs1483012656 | 2223 | G>W | No | TOPMed | |
| rs1190336637 | 2224 | G>A | No | gnomAD | |
|
RCV001765580 rs1190336637 |
2224 | G>D | No |
ClinVar dbSNP gnomAD |
|
|
RCV001752715 rs2151302359 |
2224 | G>S | No |
ClinVar Ensembl dbSNP |
|
| rs1190336637 | 2224 | G>V | No | gnomAD | |
| rs2151302321 | 2225 | M>I | No | Ensembl | |
| rs2151302330 | 2225 | M>K | No | Ensembl | |
|
RCV001756849 rs2151302343 |
2225 | M>L | No |
ClinVar Ensembl dbSNP |
|
| rs2151302330 | 2225 | M>R | No | Ensembl | |
| rs2151302330 | 2225 | M>T | No | Ensembl | |
| rs754601626 | 2226 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs2151302315 | 2226 | A>S | No | Ensembl | |
| rs2151302315 | 2226 | A>T | No | Ensembl | |
| rs754601626 | 2226 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2151302289 | 2227 | G>R | No | Ensembl | |
| rs2151302289 | 2227 | G>W | No | Ensembl | |
| rs1207709541 | 2228 | H>D | No |
TOPMed gnomAD |
|
| rs138613594 | 2228 | H>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1207709541 | 2228 | H>Y | No |
TOPMed gnomAD |
|
| rs1194793942 | 2229 | G>A | No | gnomAD | |
| rs139688311 | 2229 | G>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1194793942 | 2229 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs139688311 | 2229 | G>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1194793942 | 2229 | G>V | No | gnomAD | |
| rs1294524463 | 2230 | Q>* | No | gnomAD | |
| rs1233544107 | 2230 | Q>H | No |
TOPMed gnomAD |
|
| rs1294524463 | 2230 | Q>K | No | gnomAD | |
|
rs1166220187 COSM331816 |
2230 | Q>R | lung [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs1354382067 | 2231 | F>C | No | gnomAD | |
| rs2151302217 | 2231 | F>I | No | Ensembl | |
| rs2151302217 | 2231 | F>L | No | Ensembl | |
| rs760793692 | 2231 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs2151302217 | 2231 | F>V | No | Ensembl | |
| rs1354382067 | 2231 | F>Y | No | gnomAD | |
| rs775677510 | 2232 | Q>H | No |
ExAC gnomAD |
|
| rs2151302194 | 2232 | Q>L | No | Ensembl | |
| rs2151302194 | 2232 | Q>R | No | Ensembl | |
| rs767904307 | 2233 | Q>* | No |
ExAC gnomAD |
|
| rs2151302158 | 2233 | Q>H | No | Ensembl | |
| rs767904307 | 2233 | Q>K | No |
ExAC gnomAD |
|
| rs2151302167 | 2233 | Q>L | No | Ensembl | |
| rs759823393 | 2234 | P>A | No |
ExAC gnomAD |
|
| rs2051805195 | 2234 | P>L | No | TOPMed | |
| rs2051805195 | 2234 | P>R | No | TOPMed | |
|
RCV000762182 rs759823393 |
2234 | P>S | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs759823393 | 2234 | P>T | No |
ExAC gnomAD |
|
| rs2051805127 | 2235 | Q>* | No | TOPMed | |
| rs2051805127 | 2235 | Q>E | No | TOPMed | |
| rs2051805050 | 2235 | Q>H | No | Ensembl | |
| rs2151302109 | 2235 | Q>L | No | Ensembl | |
| rs2151302109 | 2235 | Q>R | No | Ensembl | |
| rs1465500767 | 2236 | G>* | No | gnomAD | |
| rs774272248 | 2236 | G>A | No |
ExAC gnomAD |
|
| rs774272248 | 2236 | G>E | No |
ExAC gnomAD |
|
| rs1465500767 | 2236 | G>R | No | gnomAD | |
| rs774272248 | 2236 | G>V | No |
ExAC gnomAD |
|
| rs1167133154 | 2237 | P>A | No |
TOPMed gnomAD |
|
| rs2151302053 | 2237 | P>H | No | Ensembl | |
| rs2151302053 | 2237 | P>R | No | Ensembl | |
| rs1167133154 | 2237 | P>S | No |
TOPMed gnomAD |
|
| rs749263945 | 2238 | G>* | No |
ExAC TOPMed gnomAD |
|
| rs2151302027 | 2238 | G>A | No | Ensembl | |
| rs2151302027 | 2238 | G>E | No | Ensembl | |
| rs749263945 | 2238 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs1343359084 | 2239 | G>A | No | TOPMed | |
| rs992349519 | 2239 | G>C | No | Ensembl | |
| rs1343359084 | 2239 | G>D | No | TOPMed | |
| rs992349519 | 2239 | G>R | No | Ensembl | |
| rs992349519 | 2239 | G>S | No | Ensembl | |
| rs1343359084 | 2239 | G>V | No | TOPMed | |
| rs772974749 | 2240 | Y>* | No | ExAC | |
|
rs957150590 TCGA novel |
2240 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs957150590 | 2240 | Y>F | No | Ensembl | |
| rs2151301983 | 2240 | Y>H | No | Ensembl | |
| rs2151301983 | 2240 | Y>N | No | Ensembl | |
| rs957150590 | 2240 | Y>S | No | Ensembl | |
| rs1179950806 | 2241 | P>A | No | gnomAD | |
| rs1179950806 | 2241 | P>S | No | gnomAD | |
| rs1179950806 | 2241 | P>T | No | gnomAD | |
| rs2051803941 | 2242 | P>A | No | Ensembl | |
| rs146514877 | 2242 | P>L | No |
ESP TOPMed gnomAD |
|
| rs146514877 | 2242 | P>Q | No |
ESP TOPMed gnomAD |
|
| rs146514877 | 2242 | P>R | No |
ESP TOPMed gnomAD |
|
| rs2051803941 | 2242 | P>S | No | Ensembl | |
| rs190153828 | 2243 | A>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2151301927 | 2243 | A>P | No | Ensembl | |
| rs2151301927 | 2243 | A>S | No | Ensembl | |
|
rs2151301927 COSM1249111 |
2243 | A>T | oesophagus [Cosmic] | No |
cosmic curated Ensembl |
| rs201356785 | 2244 | M>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151301890 | 2244 | M>K | No | Ensembl | |
| rs2151301901 | 2244 | M>L | No | Ensembl | |
| rs2151301890 | 2244 | M>R | No | Ensembl | |
| rs2151301890 | 2244 | M>T | No | Ensembl | |
| rs2151301901 | 2244 | M>V | No | Ensembl | |
| rs746596528 | 2245 | Q>* | No |
ExAC gnomAD |
|
| rs746596528 | 2245 | Q>E | No |
ExAC gnomAD |
|
| rs2151301862 | 2245 | Q>H | No | Ensembl | |
| rs2151301869 | 2245 | Q>L | No | Ensembl | |
| rs2151301869 | 2245 | Q>P | No | Ensembl | |
| rs2151301869 | 2245 | Q>R | No | Ensembl | |
| rs2151301854 | 2246 | Q>* | No | Ensembl | |
| rs2151301854 | 2246 | Q>E | No | Ensembl | |
| rs1287152552 | 2246 | Q>H | No | gnomAD | |
| rs2151301854 | 2246 | Q>K | No | Ensembl | |
| rs1333468537 | 2246 | Q>L | No | gnomAD | |
| rs1333468537 | 2246 | Q>P | No | gnomAD | |
| rs2151301839 | 2247 | Q>* | No | Ensembl | |
| rs2151301839 | 2247 | Q>E | No | Ensembl | |
| TCGA novel | 2247 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151301833 | 2247 | Q>L | No | Ensembl | |
| rs2151301828 | 2248 | Q>* | No | Ensembl | |
| rs2151301828 | 2248 | Q>E | No | Ensembl | |
| rs779345611 | 2249 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs779345611 | 2249 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs794727551 | 2249 | R>L | No |
TOPMed gnomAD |
|
| rs779345611 | 2249 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs2151301775 | 2250 | M>I | No | Ensembl | |
| rs2051802881 | 2250 | M>T | No | Ensembl | |
| rs1376163722 | 2250 | M>V | No | gnomAD | |
| rs868434987 | 2251 | Q>* | No | Ensembl | |
| rs868434987 | 2251 | Q>E | No | Ensembl | |
| rs2151301756 | 2251 | Q>H | No | Ensembl | |
| rs868434987 | 2251 | Q>K | No | Ensembl | |
| rs2151301745 | 2252 | Q>* | No | Ensembl | |
| rs2151301745 | 2252 | Q>E | No | Ensembl | |
| rs1596782106 | 2252 | Q>H | No | Ensembl | |
| rs2151301745 | 2252 | Q>K | No | Ensembl | |
| rs2051802743 | 2252 | Q>L | No | Ensembl | |
| rs2051802598 | 2253 | H>D | No | Ensembl | |
| rs1029488452 | 2253 | H>L | No |
TOPMed gnomAD |
|
| rs1567260199 | 2253 | H>Q | No | Ensembl | |
| rs1029488452 | 2253 | H>R | No |
TOPMed gnomAD |
|
| rs2051802598 | 2253 | H>Y | No | Ensembl | |
| rs2151301709 | 2254 | L>F | No | Ensembl | |
| rs2151301706 | 2254 | L>H | No | Ensembl | |
| rs2151301706 | 2254 | L>P | No | Ensembl | |
| rs2151301709 | 2254 | L>V | No | Ensembl | |
| rs754396803 | 2255 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs1191357764 | 2255 | P>H | No | TOPMed | |
| rs1191357764 | 2255 | P>R | No | TOPMed | |
| rs754396803 | 2255 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs754396803 | 2255 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs752887380 | 2256 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs2151301640 | 2256 | L>H | No | Ensembl | |
| rs752887380 | 2256 | L>I | No |
ExAC TOPMed gnomAD |
|
| rs2151301640 | 2256 | L>P | No | Ensembl | |
| TCGA novel | 2256 | L>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs752887380 | 2256 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs2151301627 | 2257 | Q>* | No | Ensembl | |
| rs2151301627 | 2257 | Q>E | No | Ensembl | |
| rs2151301613 | 2257 | Q>H | No | Ensembl | |
| rs2051801755 | 2257 | Q>L | No | Ensembl | |
| rs2051801755 | 2257 | Q>P | No | Ensembl | |
| rs1462184814 | 2258 | G>A | No |
TOPMed gnomAD |
|
| rs1462184814 | 2258 | G>D | No |
TOPMed gnomAD |
|
| rs2151301597 | 2258 | G>R | No | Ensembl | |
| rs2151301597 | 2258 | G>S | No | Ensembl | |
| rs1462184814 | 2258 | G>V | No |
TOPMed gnomAD |
|
| rs2151301567 | 2259 | S>C | No | Ensembl | |
| rs2151301567 | 2259 | S>G | No | Ensembl | |
| rs2151301562 | 2259 | S>I | No | Ensembl | |
| rs2151301562 | 2259 | S>N | No | Ensembl | |
| rs759845532 | 2259 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs2151301567 | 2259 | S>R | No | Ensembl | |
| rs2151301562 | 2259 | S>T | No | Ensembl | |
| rs2151301543 | 2260 | S>C | No | Ensembl | |
| rs2151301543 | 2260 | S>F | No | Ensembl | |
| rs2151301548 | 2260 | S>P | No | Ensembl | |
| rs2151301548 | 2260 | S>T | No | Ensembl | |
| rs2151301543 | 2260 | S>Y | No | Ensembl | |
| rs2151301509 | 2261 | M>I | No | Ensembl | |
| rs2151301515 | 2261 | M>K | No | Ensembl | |
| rs774379679 | 2261 | M>L | No |
ExAC gnomAD |
|
| rs2151301515 | 2261 | M>R | No | Ensembl | |
| rs2151301515 | 2261 | M>T | No | Ensembl | |
| rs774379679 | 2261 | M>V | No |
ExAC gnomAD |
|
| rs2151301491 | 2262 | G>A | No | Ensembl | |
| rs766219870 | 2262 | G>C | No |
ExAC TOPMed gnomAD |
|
| rs2151301491 | 2262 | G>D | No | Ensembl | |
| rs766219870 | 2262 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs766219870 | 2262 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs2151301491 | 2262 | G>V | No | Ensembl | |
| rs2151301477 | 2263 | Q>* | No | Ensembl | |
| rs2151301477 | 2263 | Q>E | No | Ensembl | |
| rs773030588 | 2263 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs2151301477 | 2263 | Q>K | No | Ensembl | |
| rs2151301439 | 2264 | M>I | No | Ensembl | |
| rs2151301443 | 2264 | M>K | No | Ensembl | |
| rs2151301450 | 2264 | M>L | No | Ensembl | |
| rs2151301443 | 2264 | M>R | No | Ensembl | |
| rs2151301443 | 2264 | M>T | No | Ensembl | |
| rs2151301450 | 2264 | M>V | No | Ensembl | |
| rs201956327 | 2265 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs201956327 | 2265 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs1254686126 | 2265 | A>P | No | gnomAD | |
| rs1254686126 | 2265 | A>S | No | gnomAD | |
| rs1254686126 | 2265 | A>T | No | gnomAD | |
| rs201956327 | 2265 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs2151301410 | 2266 | A>G | No | Ensembl | |
| rs776123525 | 2266 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs776123525 | 2266 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs776123525 | 2266 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs2151301410 | 2266 | A>V | No | Ensembl | |
| rs2051800718 | 2267 | Q>* | No | TOPMed | |
| rs2051800718 | 2267 | Q>E | No | TOPMed | |
| rs768095952 | 2267 | Q>H | No |
ExAC gnomAD |
|
| rs2051800718 | 2267 | Q>K | No | TOPMed | |
| rs2151301386 | 2267 | Q>L | No | Ensembl | |
| rs2151301386 | 2267 | Q>R | No | Ensembl | |
| rs2151301351 | 2268 | M>I | No | Ensembl | |
| rs746692385 | 2268 | M>K | No |
ExAC gnomAD |
|
| rs2151301370 | 2268 | M>L | No | Ensembl | |
| rs746692385 | 2268 | M>R | No |
ExAC gnomAD |
|
| COSM3817960 | 2268 | M>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2151301370 | 2268 | M>V | No | Ensembl | |
| rs2151301341 | 2269 | G>* | No | Ensembl | |
| rs2151301341 | 2269 | G>R | No | Ensembl | |
| rs2151301324 | 2270 | Q>* | No | Ensembl | |
| rs2151301324 | 2270 | Q>E | No | Ensembl | |
| rs1285537775 | 2270 | Q>H | No | gnomAD | |
| rs2151301317 | 2270 | Q>L | No | Ensembl | |
| rs2151301317 | 2270 | Q>R | No | Ensembl | |
| rs2051800390 | 2271 | L>F | No | TOPMed | |
| rs761951767 | 2271 | L>H | No | Ensembl | |
| rs2051800390 | 2271 | L>I | No | TOPMed | |
| rs761951767 | 2271 | L>P | No | Ensembl | |
| rs761951767 | 2271 | L>R | No | Ensembl | |
| rs2051800390 | 2271 | L>V | No | TOPMed | |
| rs2151301269 | 2272 | G>A | No | Ensembl | |
| rs1351901078 | 2272 | G>C | No |
TOPMed gnomAD |
|
| rs2151301269 | 2272 | G>D | No | Ensembl | |
| rs1351901078 | 2272 | G>R | No |
TOPMed gnomAD |
|
|
rs1351901078 RCV001822447 |
2272 | G>S | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs2151301269 | 2272 | G>V | No | Ensembl | |
| rs2151301257 | 2273 | Q>* | No | Ensembl | |
| rs2151301257 | 2273 | Q>E | No | Ensembl | |
| rs2151301257 | 2273 | Q>K | No | Ensembl | |
| rs2151301231 | 2274 | M>I | No | Ensembl | |
| rs2151301238 | 2274 | M>K | No | Ensembl | |
| rs1306100144 | 2274 | M>L | No | gnomAD | |
| rs2151301238 | 2274 | M>R | No | Ensembl | |
| rs2151301238 | 2274 | M>T | No | Ensembl | |
| rs2051800066 | 2275 | G>R | No | TOPMed | |
| rs2051800066 | 2275 | G>W | No | TOPMed | |
| rs1367162435 | 2276 | Q>H | No |
TOPMed gnomAD |
|
| rs2151301189 | 2276 | Q>L | No | Ensembl | |
| rs2151301189 | 2276 | Q>R | No | Ensembl | |
| rs771721926 | 2277 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs749660119 | 2277 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs749660119 | 2277 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs749660119 | 2277 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs771721926 | 2277 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs771721926 | 2277 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs2151301129 | 2278 | G>A | No | Ensembl | |
| rs2151301129 | 2278 | G>E | No | Ensembl | |
| rs2151301139 | 2278 | G>R | No | Ensembl | |
| rs2151301129 | 2278 | G>V | No | Ensembl | |
| rs1317702733 | 2279 | L>M | No |
TOPMed gnomAD |
|
| rs1596781744 | 2279 | L>P | No | Ensembl | |
| rs1596781744 | 2279 | L>Q | No | Ensembl | |
| rs1596781744 | 2279 | L>R | No | Ensembl | |
| rs753192214 | 2280 | G>R | No |
ExAC gnomAD |
|
| rs781438241 | 2280 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs753192214 | 2280 | G>W | No |
ExAC gnomAD |
|
| rs866381658 | 2281 | A>P | No | TOPMed | |
| rs866381658 | 2281 | A>S | No | TOPMed | |
|
rs866381658 COSM84329 |
2281 | A>T | pancreas [Cosmic] | No |
cosmic curated TOPMed |
| rs949743163 | 2282 | D>A | No | Ensembl | |
| rs1174028020 | 2282 | D>E | No |
TOPMed gnomAD |
|
| rs949743163 | 2282 | D>G | No | Ensembl | |
| rs2051798830 | 2282 | D>H | No | TOPMed | |
| rs2051798830 | 2282 | D>N | No | TOPMed | |
| rs949743163 | 2282 | D>V | No | Ensembl | |
| rs2051798830 | 2282 | D>Y | No | TOPMed | |
| rs1320435033 | 2283 | S>G | No |
TOPMed gnomAD |
|
| rs2151301037 | 2283 | S>I | No | Ensembl | |
| rs2151301037 | 2283 | S>N | No | Ensembl | |
| rs148904096 | 2283 | S>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2151301037 | 2283 | S>T | No | Ensembl | |
| rs1596781651 | 2284 | T>A | No | Ensembl | |
| rs2151301009 | 2284 | T>I | No | Ensembl | |
| rs2151301009 | 2284 | T>N | No | Ensembl | |
| rs1596781651 | 2284 | T>P | No | Ensembl | |
| rs2151301009 | 2284 | T>S | No | Ensembl | |
| rs1596781651 | 2284 | T>S | No | Ensembl | |
| rs368174171 | 2285 | P>A | No |
ESP ExAC gnomAD |
|
| rs2151300995 | 2285 | P>H | No | Ensembl | |
| rs2151300995 | 2285 | P>L | No | Ensembl | |
| rs368174171 | 2285 | P>S | No |
ESP ExAC gnomAD |
|
| rs368174171 | 2285 | P>T | No |
ESP ExAC gnomAD |
|
| rs1487084706 | 2286 | N>I | No | TOPMed | |
| rs1487084706 | 2286 | N>S | No | TOPMed | |
| rs1487084706 | 2286 | N>T | No | TOPMed | |
| rs2151300968 | 2287 | I>L | No | Ensembl | |
| rs2051798148 | 2287 | I>M | No | Ensembl | |
| rs2151300959 | 2287 | I>N | No | Ensembl | |
| rs2151300959 | 2287 | I>T | No | Ensembl | |
| rs2151300946 | 2288 | Q>H | No | Ensembl | |
| rs2151300933 | 2289 | Q>* | No | Ensembl | |
| rs2151300933 | 2289 | Q>E | No | Ensembl | |
| rs2151300926 | 2289 | Q>H | No | Ensembl | |
| rs2151300933 | 2289 | Q>K | No | Ensembl | |
| rs2151300914 | 2290 | A>D | No | Ensembl | |
| rs2151300914 | 2290 | A>G | No | Ensembl | |
| rs2151300922 | 2290 | A>P | No | Ensembl | |
| rs2151300922 | 2290 | A>T | No | Ensembl | |
| rs2151300914 | 2290 | A>V | No | Ensembl | |
| COSM970540 | 2291 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2151300888 | 2291 | L>P | No | Ensembl | |
| rs2151300888 | 2291 | L>Q | No | Ensembl | |
| rs2151300897 | 2291 | L>V | No | Ensembl | |
| rs2151300876 | 2292 | Q>* | No | Ensembl | |
| rs2151300876 | 2292 | Q>E | No | Ensembl | |
| rs2051798083 | 2292 | Q>H | No | Ensembl | |
| rs2151300870 | 2292 | Q>L | No | Ensembl | |
| rs2151300851 | 2293 | Q>* | No | Ensembl | |
| rs2151300851 | 2293 | Q>E | No | Ensembl | |
| rs1207005956 | 2293 | Q>H | No |
TOPMed gnomAD |
|
| rs2151300851 | 2293 | Q>K | No | Ensembl | |
| rs2151300845 | 2293 | Q>L | No | Ensembl | |
| rs763223282 | 2294 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs763223282 | 2294 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs2151300802 | 2295 | I>F | No | Ensembl | |
| rs2151300802 | 2295 | I>L | No | Ensembl | |
| rs750251074 | 2295 | I>M | No |
ExAC gnomAD |
|
| rs2151300791 | 2295 | I>N | No | Ensembl | |
| rs2151300791 | 2295 | I>S | No | Ensembl | |
| rs2151300791 | 2295 | I>T | No | Ensembl | |
| rs2151300765 | 2296 | L>P | No | Ensembl | |
| rs2151300765 | 2296 | L>Q | No | Ensembl | |
| rs2151300778 | 2296 | L>V | No | Ensembl | |
| rs2151300746 | 2297 | Q>E | No | Ensembl | |
| rs1216449396 | 2297 | Q>H | No | gnomAD | |
| rs2051797662 | 2297 | Q>L | No | TOPMed | |
| rs2051797662 | 2297 | Q>R | No | TOPMed | |
| rs2151300728 | 2298 | Q>* | No | Ensembl | |
| rs2151300728 | 2298 | Q>E | No | Ensembl | |
| rs2151300704 | 2298 | Q>H | No | Ensembl | |
| rs2151300709 | 2298 | Q>L | No | Ensembl | |
| rs2151300709 | 2298 | Q>P | No | Ensembl | |
| rs2151300696 | 2299 | Q>* | No | Ensembl | |
| rs2151300696 | 2299 | Q>E | No | Ensembl | |
| rs2151300678 | 2299 | Q>H | No | Ensembl | |
| rs2151300693 | 2299 | Q>L | No | Ensembl | |
| rs2151300668 | 2300 | Q>* | No | Ensembl | |
| rs2151300668 | 2300 | Q>E | No | Ensembl | |
| rs2151300647 | 2300 | Q>H | No | Ensembl | |
| rs2151300657 | 2300 | Q>L | No | Ensembl | |
| rs2151300657 | 2300 | Q>P | No | Ensembl | |
| rs2151300657 | 2300 | Q>R | No | Ensembl | |
| rs2151300630 | 2301 | M>I | No | Ensembl | |
| rs2151300639 | 2301 | M>K | No | Ensembl | |
| rs2151300639 | 2301 | M>R | No | Ensembl | |
| rs2151300613 | 2302 | K>* | No | Ensembl | |
| rs2151300613 | 2302 | K>E | No | Ensembl | |
| rs2151300604 | 2302 | K>M | No | Ensembl | |
| rs2151300588 | 2302 | K>N | No | Ensembl | |
| rs2151300613 | 2302 | K>Q | No | Ensembl | |
| rs2151300604 | 2302 | K>R | No | Ensembl | |
| rs867563115 | 2303 | Q>* | No | Ensembl | |
| rs867563115 | 2303 | Q>E | No | Ensembl | |
| rs1283163834 | 2303 | Q>H | No | gnomAD | |
| rs867563115 | 2303 | Q>K | No | Ensembl | |
| rs1567259904 | 2304 | Q>* | No | Ensembl | |
| rs1567259904 | 2304 | Q>E | No | Ensembl | |
| rs1567259904 | 2304 | Q>K | No | Ensembl | |
| rs2151300558 | 2304 | Q>L | No | Ensembl | |
| rs2051797109 | 2305 | I>M | No | Ensembl | |
| rs2151300550 | 2305 | I>N | No | Ensembl | |
| rs2151300550 | 2305 | I>S | No | Ensembl | |
| rs2151300550 | 2305 | I>T | No | Ensembl | |
| rs2051796968 | 2306 | G>A | No | TOPMed | |
| rs2051796968 | 2306 | G>E | No | TOPMed | |
| rs1234402176 | 2306 | G>R | No | gnomAD | |
| rs2051796968 | 2306 | G>V | No | TOPMed | |
| rs1234402176 | 2306 | G>W | No | gnomAD | |
| rs2151300515 | 2307 | S>C | No | Ensembl | |
| rs2151300515 | 2307 | S>F | No | Ensembl | |
| rs2151300515 | 2307 | S>Y | No | Ensembl | |
| rs2151300496 | 2308 | P>A | No | Ensembl | |
|
TCGA novel rs2151300486 |
2308 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2151300486 | 2308 | P>Q | No | Ensembl | |
| rs2151300486 | 2308 | P>R | No | Ensembl | |
|
rs2151300496 TCGA novel |
2308 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2151300496 | 2308 | P>T | No | Ensembl | |
| rs2051796756 | 2309 | G>A | No | Ensembl | |
| rs2151300466 | 2309 | G>C | No | Ensembl | |
| rs2051796756 | 2309 | G>D | No | Ensembl | |
| rs2151300466 | 2309 | G>R | No | Ensembl | |
|
rs2151300466 RCV001532272 |
2309 | G>S | No |
ClinVar Ensembl dbSNP |
|
| rs2051796756 | 2309 | G>V | No | Ensembl | |
| rs2151300460 | 2310 | Q>* | No | Ensembl | |
| rs2151300460 | 2310 | Q>E | No | Ensembl | |
| rs764944681 | 2310 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs2151300460 | 2310 | Q>K | No | Ensembl | |
| rs2151300452 | 2310 | Q>L | No | Ensembl | |
| rs2151300452 | 2310 | Q>P | No | Ensembl | |
| rs2151300452 | 2310 | Q>R | No | Ensembl | |
| rs2151300440 | 2311 | P>A | No | Ensembl | |
| rs761751428 | 2311 | P>L | No |
ExAC gnomAD |
|
| rs761751428 | 2311 | P>Q | No |
ExAC gnomAD |
|
| rs761751428 | 2311 | P>R | No |
ExAC gnomAD |
|
| rs2151300404 | 2312 | N>D | No | Ensembl | |
| rs2151300404 | 2312 | N>H | No | Ensembl | |
| rs2151300392 | 2312 | N>I | No | Ensembl | |
| rs2151300380 | 2312 | N>K | No | Ensembl | |
| rs2151300392 | 2312 | N>S | No | Ensembl | |
| rs2151300392 | 2312 | N>T | No | Ensembl | |
| rs2151300404 | 2312 | N>Y | No | Ensembl | |
| rs1798875128 | 2313 | P>A | No |
TOPMed gnomAD |
|
| rs1798875128 | 2313 | P>S | No |
TOPMed gnomAD |
|
| rs1798875128 | 2313 | P>T | No |
TOPMed gnomAD |
|
| rs2151300348 | 2314 | M>I | No | Ensembl | |
| rs768181832 | 2314 | M>K | No |
ExAC gnomAD |
|
| rs979662378 | 2314 | M>L | No | gnomAD | |
| rs768181832 | 2314 | M>R | No |
ExAC gnomAD |
|
| rs768181832 | 2314 | M>T | No |
ExAC gnomAD |
|
| rs979662378 | 2314 | M>V | No | gnomAD | |
|
COSM703038 rs2051796138 |
2315 | S>C | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2051796138 | 2315 | S>G | No | Ensembl | |
| rs2151300333 | 2315 | S>I | No | Ensembl | |
| rs2151300333 | 2315 | S>N | No | Ensembl | |
| rs2051796138 | 2315 | S>R | No | Ensembl | |
| rs1596781456 | 2315 | S>R | No | Ensembl | |
| rs2151300333 | 2315 | S>T | No | Ensembl | |
| rs1423142626 | 2316 | P>A | No |
TOPMed gnomAD |
|
| rs1159803595 | 2316 | P>H | No | TOPMed | |
| rs1159803595 | 2316 | P>L | No | TOPMed | |
| rs1159803595 | 2316 | P>R | No | TOPMed | |
| rs1423142626 | 2316 | P>S | No |
TOPMed gnomAD |
|
| rs2151300278 | 2317 | Q>* | No | Ensembl | |
| rs2151300268 | 2317 | Q>H | No | Ensembl | |
| COSM970538 | 2317 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2151300261 | 2318 | Q>* | No | Ensembl | |
|
COSM1290518 rs2151300261 |
2318 | Q>E | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
| rs2051795810 | 2318 | Q>H | No | Ensembl | |
| rs2151300261 | 2318 | Q>K | No | Ensembl | |
| rs760140366 | 2318 | Q>L | No |
ExAC TOPMed gnomAD |
|
| rs760140366 | 2318 | Q>P | No |
ExAC TOPMed gnomAD |
|
| rs760140366 | 2318 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs2151300240 | 2319 | H>D | No | Ensembl | |
| rs2151300240 | 2319 | H>N | No | Ensembl | |
| rs587778215 | 2319 | H>P | No |
ExAC TOPMed gnomAD |
|
| rs2151300223 | 2319 | H>Q | No | Ensembl | |
| rs587778215 | 2319 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs2151300240 | 2319 | H>Y | No | Ensembl | |
| rs771682806 | 2320 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs2151300201 | 2320 | M>K | No | Ensembl | |
| rs2151300211 | 2320 | M>L | No | Ensembl | |
| rs2151300201 | 2320 | M>T | No | Ensembl | |
| rs2151300211 | 2320 | M>V | No | Ensembl | |
| rs2151300181 | 2321 | L>F | No | Ensembl | |
| rs2151300176 | 2321 | L>H | No | Ensembl | |
| rs2151300181 | 2321 | L>I | No | Ensembl | |
| rs2151300176 | 2321 | L>P | No | Ensembl | |
| rs2151300181 | 2321 | L>V | No | Ensembl | |
| rs2151300148 | 2322 | S>* | No | Ensembl | |
| rs2151300148 | 2322 | S>L | No | Ensembl | |
| rs2151300156 | 2322 | S>P | No | Ensembl | |
| rs2151300156 | 2322 | S>T | No | Ensembl | |
| rs968610522 | 2323 | G>* | No | Ensembl | |
| rs2151300130 | 2323 | G>A | No | Ensembl | |
| rs2151300130 | 2323 | G>E | No | Ensembl | |
| rs968610522 | 2323 | G>R | No | Ensembl | |
| rs2151300130 | 2323 | G>V | No | Ensembl | |
|
rs2151300113 RCV001763573 |
2324 | Q>* | No |
ClinVar Ensembl dbSNP |
|
| rs2151300113 | 2324 | Q>E | No | Ensembl | |
| rs996280072 | 2324 | Q>H | No | TOPMed | |
| rs2151300107 | 2324 | Q>L | No | Ensembl | |
| rs2151300107 | 2324 | Q>P | No | Ensembl | |
| rs2151300107 | 2324 | Q>R | No | Ensembl | |
| rs2151300086 | 2325 | P>A | No | Ensembl | |
| rs1422201327 | 2325 | P>L | No |
TOPMed gnomAD |
|
| rs2151300086 | 2325 | P>S | No | Ensembl | |
| rs2151300086 | 2325 | P>T | No | Ensembl | |
| rs2151300068 | 2326 | Q>* | No | Ensembl | |
| rs2151300068 | 2326 | Q>K | No | Ensembl | |
| rs1190871113 | 2326 | Q>L | No |
TOPMed gnomAD |
|
| rs1190871113 | 2326 | Q>P | No |
TOPMed gnomAD |
|
| rs1190871113 | 2326 | Q>R | No |
TOPMed gnomAD |
|
| rs1024628646 | 2327 | A>G | No |
TOPMed gnomAD |
|
| rs2151300059 | 2327 | A>T | No | Ensembl | |
| rs1567259787 | 2328 | S>* | No | TOPMed | |
|
rs1567259787 COSM254631 |
2328 | S>L | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
| rs2151300034 | 2328 | S>P | No | Ensembl | |
| rs2151300034 | 2328 | S>T | No | Ensembl | |
| rs1567259787 | 2328 | S>W | No | TOPMed | |
| rs2151300015 | 2329 | H>D | No | Ensembl | |
| rs748688552 | 2329 | H>L | No |
ExAC gnomAD |
|
| rs748688552 | 2329 | H>P | No |
ExAC gnomAD |
|
| rs2151300007 | 2329 | H>Q | No | Ensembl | |
| rs748688552 | 2329 | H>R | No |
ExAC gnomAD |
|
| rs2151300015 | 2329 | H>Y | No | Ensembl | |
|
rs1064796531 CA16620193 RCV000480206 |
2330 | L>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2051794701 | 2330 | L>H | No | TOPMed | |
| rs2051794701 | 2330 | L>P | No | TOPMed | |
|
COSM703039 rs2051794701 |
2330 | L>R | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
| rs1064796531 | 2330 | L>V | No | Ensembl | |
| rs2151299973 | 2331 | P>A | No | Ensembl | |
| rs2151299973 | 2331 | P>S | No | Ensembl | |
| rs2151299973 | 2331 | P>T | No | Ensembl | |
| rs2151299952 | 2332 | G>A | No | Ensembl | |
| rs2151299963 | 2332 | G>C | No | Ensembl | |
| rs2151299952 | 2332 | G>D | No | Ensembl | |
| rs2151299963 | 2332 | G>R | No | Ensembl | |
| rs2151299963 | 2332 | G>S | No | Ensembl | |
| rs2151299952 | 2332 | G>V | No | Ensembl | |
| rs377018267 | 2333 | Q>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs377018267 | 2333 | Q>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs2051794356 | 2333 | Q>H | No | TOPMed | |
| rs377018267 | 2333 | Q>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs2051794422 | 2333 | Q>R | No | Ensembl | |
| rs2151299921 | 2334 | Q>* | No | Ensembl | |
| rs2151299921 | 2334 | Q>E | No | Ensembl | |
| rs2151299921 | 2334 | Q>K | No | Ensembl | |
| rs2151299909 | 2335 | I>F | No | Ensembl | |
| rs2151299909 | 2335 | I>L | No | Ensembl | |
| rs751640745 | 2335 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs2151299906 | 2335 | I>N | No | Ensembl | |
| rs2151299906 | 2335 | I>S | No | Ensembl | |
| rs2151299909 | 2335 | I>V | No | Ensembl | |
| rs2151299887 | 2336 | A>D | No | Ensembl | |
| rs2151299887 | 2336 | A>G | No | Ensembl | |
| rs543811185 | 2336 | A>P | No |
TOPMed gnomAD |
|
| rs543811185 | 2336 | A>S | No |
TOPMed gnomAD |
|
| rs543811185 | 2336 | A>T | No |
TOPMed gnomAD |
|
| rs2151299887 | 2336 | A>V | No | Ensembl | |
| rs373607295 | 2337 | T>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs373607295 | 2337 | T>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151299854 | 2338 | S>A | No | Ensembl | |
| rs2151299846 | 2338 | S>C | No | Ensembl | |
| rs2151299846 | 2338 | S>F | No | Ensembl | |
| rs2151299854 | 2338 | S>P | No | Ensembl | |
| rs2151299854 | 2338 | S>T | No | Ensembl | |
| rs2151299828 | 2339 | L>F | No | Ensembl | |
| rs2151299821 | 2339 | L>H | No | Ensembl | |
| rs2151299828 | 2339 | L>I | No | Ensembl | |
| rs2151299821 | 2339 | L>P | No | Ensembl | |
| rs2151299821 | 2339 | L>R | No | Ensembl | |
| rs2151299828 | 2339 | L>V | No | Ensembl | |
| rs765037692 | 2340 | S>G | No |
ExAC TOPMed gnomAD |
|
|
TCGA novel rs2151299806 |
2340 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs1235783649 | 2340 | S>R | No | TOPMed | |
| rs2151299806 | 2340 | S>T | No | Ensembl | |
| rs2151299798 | 2341 | N>D | No | Ensembl | |
| rs2151299795 | 2341 | N>I | No | Ensembl | |
| rs2151299795 | 2341 | N>T | No | Ensembl | |
| rs377597272 | 2342 | Q>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs377597272 | 2342 | Q>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs1486060565 | 2342 | Q>H | No |
TOPMed gnomAD |
|
| rs377597272 | 2342 | Q>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs886399777 | 2343 | V>A | No | Ensembl | |
| rs886399777 | 2343 | V>E | No | Ensembl | |
| rs886399777 | 2343 | V>G | No | Ensembl | |
| rs2151299762 | 2343 | V>L | No | Ensembl | |
| rs2151299762 | 2343 | V>M | No | Ensembl | |
|
RCV001768891 rs753595183 |
2344 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1299672210 COSM172758 |
2344 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs2151299717 | 2345 | S>A | No | Ensembl | |
| rs2151299712 | 2345 | S>C | No | Ensembl | |
| rs2151299712 | 2345 | S>F | No | Ensembl | |
| rs2151299717 | 2345 | S>P | No | Ensembl | |
| rs2151299717 | 2345 | S>T | No | Ensembl | |
| rs2151299712 | 2345 | S>Y | No | Ensembl | |
| rs2151299700 | 2346 | P>A | No | Ensembl | |
|
COSM1202276 rs2151299690 |
2346 | P>L | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs2151299690 | 2346 | P>Q | No | Ensembl | |
| rs2151299690 | 2346 | P>R | No | Ensembl | |
| rs2151299700 | 2346 | P>S | No | Ensembl | |
| rs182347573 | 2347 | A>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2151299673 | 2347 | A>P | No | Ensembl | |
| rs2151299673 | 2347 | A>S | No | Ensembl | |
|
rs2151299673 RCV001532271 |
2347 | A>T | No |
ClinVar Ensembl dbSNP |
|
| rs2151299652 | 2348 | P>H | No | Ensembl | |
| rs2151299652 | 2348 | P>L | No | Ensembl | |
| rs2151299658 | 2348 | P>S | No | Ensembl | |
| rs2151299658 | 2348 | P>T | No | Ensembl | |
| rs2151299626 | 2349 | V>A | No | Ensembl | |
| rs2151299626 | 2349 | V>D | No | Ensembl | |
| rs2151299636 | 2349 | V>F | No | Ensembl | |
| rs2151299626 | 2349 | V>G | No | Ensembl | |
| rs2151299636 | 2349 | V>I | No | Ensembl | |
| rs2151299636 | 2349 | V>L | No | Ensembl | |
| rs774932716 | 2350 | Q>* | No |
ExAC TOPMed gnomAD |
|
| rs774932716 | 2350 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs1417985570 | 2350 | Q>H | No | gnomAD | |
| rs774932716 | 2350 | Q>K | No |
ExAC TOPMed gnomAD |
|
| rs1358026398 | 2350 | Q>R | No |
TOPMed gnomAD |
|
| rs2151299578 | 2351 | S>A | No | Ensembl | |
| rs2151299575 | 2351 | S>C | No | Ensembl | |
| rs2151299575 | 2351 | S>F | No | Ensembl | |
| rs2151299578 | 2351 | S>P | No | Ensembl | |
| rs2151299578 | 2351 | S>T | No | Ensembl | |
| rs2151299566 | 2352 | P>A | No | Ensembl | |
| rs2151299566 | 2352 | P>S | No | Ensembl | |
| rs2151299566 | 2352 | P>T | No | Ensembl | |
| rs771546273 | 2353 | R>G | No |
ExAC gnomAD |
|
| rs1423752547 | 2353 | R>L | No |
TOPMed gnomAD |
|
| rs1423752547 | 2353 | R>P | No |
TOPMed gnomAD |
|
| rs1423752547 | 2353 | R>Q | No |
TOPMed gnomAD |
|
| rs771546273 | 2353 | R>W | No |
ExAC gnomAD |
|
| rs2151299529 | 2354 | P>H | No | Ensembl | |
| rs2151299529 | 2354 | P>L | No | Ensembl | |
| rs2151299529 | 2354 | P>R | No | Ensembl | |
|
CA394550637 rs1179308620 RCV000627350 |
2355 | Q>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs1179308620 | 2355 | Q>E | No | gnomAD | |
| rs2151299497 | 2355 | Q>H | No | Ensembl | |
| rs1179308620 | 2355 | Q>K | No | gnomAD | |
| rs2151299506 | 2355 | Q>P | No | Ensembl | |
| rs2151299506 | 2355 | Q>R | No | Ensembl | |
| rs2151299489 | 2356 | S>A | No | Ensembl | |
| rs2151299480 | 2356 | S>C | No | Ensembl | |
|
rs2151299480 COSM3509549 |
2356 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs2151299489 | 2356 | S>P | No | Ensembl | |
| rs2151299489 | 2356 | S>T | No | Ensembl | |
| rs2151299468 | 2357 | Q>H | No | Ensembl | |
| rs1458532302 | 2358 | P>A | No | gnomAD | |
| rs2151299457 | 2358 | P>H | No | Ensembl | |
| rs2151299457 | 2358 | P>R | No | Ensembl | |
| rs1458532302 | 2358 | P>S | No | gnomAD | |
| rs1458532302 | 2358 | P>T | No | gnomAD | |
| rs2151299441 | 2359 | P>L | No | Ensembl | |
| rs2151299441 | 2359 | P>R | No | Ensembl | |
| TCGA novel | 2359 | P>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1257630431 | 2359 | P>A | No | gnomAD | |
| rs1257630431 | 2359 | P>S | No | gnomAD | |
| rs1257630431 | 2359 | P>T | No | gnomAD | |
| rs2151299415 | 2360 | H>L | No | Ensembl | |
| rs2151299415 | 2360 | H>P | No | Ensembl | |
| rs2051791852 | 2360 | H>Q | No | TOPMed | |
| rs1567259555 | 2360 | H>Y | No | Ensembl | |
| rs2151299388 | 2361 | S>C | No | Ensembl | |
|
rs2151299388 COSM3741918 |
2361 | S>F | liver [Cosmic] | No |
cosmic curated Ensembl |
| rs2151299401 | 2361 | S>P | No | Ensembl | |
| rs2151299388 | 2361 | S>Y | No | Ensembl | |
| rs561341822 | 2362 | S>R | No |
1000Genomes ExAC gnomAD |
|
| rs2151299378 | 2363 | P>A | No | Ensembl | |
|
rs1266123570 COSM231338 |
2363 | P>L | skin [Cosmic] | No |
cosmic curated gnomAD |
| rs1266123570 | 2363 | P>Q | No | gnomAD | |
| rs1266123570 | 2363 | P>R | No | gnomAD | |
| rs2151299378 | 2363 | P>S | No | Ensembl | |
| rs2151299378 | 2363 | P>T | No | Ensembl | |
| rs2151299336 | 2364 | S>* | No | Ensembl | |
| rs2151299345 | 2364 | S>A | No | Ensembl | |
| rs2151299336 | 2364 | S>L | No | Ensembl | |
| rs2151299345 | 2364 | S>P | No | Ensembl | |
| rs2151299345 | 2364 | S>T | No | Ensembl | |
| rs2151299326 | 2365 | P>A | No | Ensembl | |
| rs2051791542 | 2365 | P>L | No | TOPMed | |
| rs2051791542 | 2365 | P>R | No | TOPMed | |
| rs2151299326 | 2365 | P>S | No | Ensembl | |
| rs2151299326 | 2365 | P>T | No | Ensembl | |
| rs2151299303 | 2366 | R>G | No | Ensembl | |
| rs1338620715 | 2366 | R>L | No | gnomAD | |
| rs1338620715 | 2366 | R>P | No | gnomAD | |
| rs1338620715 | 2366 | R>Q | No | gnomAD | |
| rs2151299303 | 2366 | R>W | No | Ensembl | |
| rs2151299273 | 2367 | I>K | No | Ensembl | |
| rs2151299282 | 2367 | I>L | No | Ensembl | |
| rs777115831 | 2367 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs2151299273 | 2367 | I>R | No | Ensembl | |
| rs2151299282 | 2367 | I>V | No | Ensembl | |
| rs769109100 | 2368 | Q>* | No |
ExAC gnomAD |
|
| rs769109100 | 2368 | Q>E | No |
ExAC gnomAD |
|
| rs769109100 | 2368 | Q>K | No |
ExAC gnomAD |
|
| rs2151299252 | 2368 | Q>L | No | Ensembl | |
| rs2151299252 | 2368 | Q>P | No | Ensembl | |
| rs2151299252 | 2368 | Q>R | No | Ensembl | |
| rs745770513 | 2369 | P>A | No | Ensembl | |
| rs1225528201 | 2369 | P>H | No | TOPMed | |
| rs1225528201 | 2369 | P>L | No | TOPMed | |
| rs1225528201 | 2369 | P>R | No | TOPMed | |
| rs745770513 | 2369 | P>S | No | Ensembl | |
|
COSM96458 rs745770513 |
2369 | P>T | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
| rs2151299214 | 2370 | Q>* | No | Ensembl | |
|
RCV001764052 rs2151299196 |
2370 | Q>H | No |
ClinVar Ensembl dbSNP |
|
| rs2151299214 | 2370 | Q>K | No | Ensembl | |
| rs2151299203 | 2370 | Q>L | No | Ensembl | |
| rs2151299203 | 2370 | Q>R | No | Ensembl | |
| rs1596780926 | 2371 | P>A | No | Ensembl | |
| rs1328816334 | 2371 | P>H | No | gnomAD | |
|
COSM2919890 rs1328816334 |
2371 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1328816334 | 2371 | P>R | No | gnomAD | |
| rs1596780926 | 2371 | P>S | No | Ensembl | |
| rs1596780926 | 2371 | P>T | No | Ensembl | |
| rs1048314482 | 2372 | S>* | No |
TOPMed gnomAD |
|
|
rs1048314482 COSM1478865 |
2372 | S>L | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs2151299168 | 2372 | S>P | No | Ensembl | |
| rs2151299168 | 2372 | S>T | No | Ensembl | |
| rs1048314482 | 2372 | S>W | No |
TOPMed gnomAD |
|
| rs2151299146 | 2373 | P>A | No | Ensembl | |
| rs2151299146 | 2373 | P>S | No | Ensembl | |
| rs2151299146 | 2373 | P>T | No | Ensembl | |
| rs2151299127 | 2374 | H>L | No | Ensembl | |
| rs2151299133 | 2374 | H>N | No | Ensembl | |
| rs2151299127 | 2374 | H>P | No | Ensembl | |
| rs2151299120 | 2374 | H>Q | No | Ensembl | |
| rs2151299133 | 2374 | H>Y | No | Ensembl | |
| rs746116315 | 2375 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs2151299102 | 2376 | V>A | No | Ensembl | |
| rs2151299102 | 2376 | V>D | No | Ensembl | |
| rs866600000 | 2376 | V>F | No |
TOPMed gnomAD |
|
| rs866600000 | 2376 | V>I | No |
TOPMed gnomAD |
|
| rs866600000 | 2376 | V>L | No |
TOPMed gnomAD |
|
| rs2151299088 | 2377 | S>* | No | Ensembl | |
|
COSM94089 rs2151299088 |
2377 | S>L | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs2151299093 | 2377 | S>P | No | Ensembl | |
| rs2151299093 | 2377 | S>T | No | Ensembl | |
| rs2151299074 | 2378 | P>A | No | Ensembl | |
| rs1161965489 | 2378 | P>H | No | gnomAD | |
| rs1161965489 | 2378 | P>L | No | gnomAD | |
| rs1161965489 | 2378 | P>R | No | gnomAD | |
| rs2151299074 | 2378 | P>S | No | Ensembl | |
| rs2151299055 | 2379 | Q>* | No | Ensembl | |
| rs2151299055 | 2379 | Q>E | No | Ensembl | |
| rs1181420977 | 2379 | Q>H | No |
TOPMed gnomAD |
|
| rs2151299055 | 2379 | Q>K | No | Ensembl | |
| rs757446484 | 2379 | Q>R | No |
ExAC gnomAD |
|
| rs1039054233 | 2380 | T>A | No |
TOPMed gnomAD |
|
| rs2151299030 | 2380 | T>I | No | Ensembl | |
| rs2151299030 | 2380 | T>N | No | Ensembl | |
| rs1039054233 | 2380 | T>P | No |
TOPMed gnomAD |
|
| rs2151299030 | 2380 | T>S | No | Ensembl | |
| rs1039054233 | 2380 | T>S | No |
TOPMed gnomAD |
|
| rs2151298999 | 2381 | G>A | No | Ensembl | |
| rs2151299009 | 2381 | G>C | No | Ensembl | |
| rs2151298999 | 2381 | G>D | No | Ensembl | |
| rs2151299009 | 2381 | G>R | No | Ensembl | |
| rs2151299009 | 2381 | G>S | No | Ensembl | |
| rs2151298999 | 2381 | G>V | No | Ensembl | |
| rs1567259408 | 2382 | S>C | No | Ensembl | |
| rs1567259408 | 2382 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs1567259408 | 2382 | S>Y | No | Ensembl | |
| rs2151298975 | 2383 | P>A | No | Ensembl | |
| rs2151298969 | 2383 | P>H | No | Ensembl | |
| rs2151298969 | 2383 | P>L | No | Ensembl | |
| rs2151298969 | 2383 | P>R | No | Ensembl | |
| rs2151298975 | 2383 | P>S | No | Ensembl | |
| rs2151298975 | 2383 | P>T | No | Ensembl | |
| rs1596780775 | 2384 | H>P | No | Ensembl | |
|
rs2051789468 COSM703040 |
2384 | H>Q | Variant assessed as Somatic; MODERATE impact. lung [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| COSM4674638 | 2384 | H>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1189062800 | 2384 | H>Y | No | TOPMed | |
| rs2151298938 | 2385 | P>A | No | Ensembl | |
| rs753688125 | 2385 | P>H | No |
ExAC gnomAD |
|
| rs753688125 | 2385 | P>L | No |
ExAC gnomAD |
|
| rs753688125 | 2385 | P>R | No |
ExAC gnomAD |
|
| rs2151298938 | 2385 | P>S | No | Ensembl | |
| rs2151298938 | 2385 | P>T | No | Ensembl | |
| rs2051789152 | 2386 | G>A | No | TOPMed | |
| rs2051789152 | 2386 | G>E | No | TOPMed | |
| rs1171889477 | 2386 | G>R | No | TOPMed | |
| rs2051789152 | 2386 | G>V | No | TOPMed | |
| rs1209302399 | 2387 | L>F | No | gnomAD | |
| rs916962263 | 2387 | L>H | No | Ensembl | |
| rs916962263 | 2387 | L>P | No | Ensembl | |
| rs916962263 | 2387 | L>R | No | Ensembl | |
| rs1209302399 | 2387 | L>V | No | gnomAD | |
| rs2051788735 | 2388 | A>E | No | Ensembl | |
| rs2051788735 | 2388 | A>G | No | Ensembl | |
| rs756011865 | 2388 | A>P | No |
ExAC gnomAD |
|
| rs756011865 | 2388 | A>S | No |
ExAC gnomAD |
|
|
rs2051788735 TCGA novel |
2388 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2151298834 | 2389 | V>A | No | Ensembl | |
| rs2151298834 | 2389 | V>D | No | Ensembl | |
| rs2151298849 | 2389 | V>F | No | Ensembl | |
| rs2151298834 | 2389 | V>G | No | Ensembl | |
| rs2151298849 | 2389 | V>I | No | Ensembl | |
| rs2151298849 | 2389 | V>L | No | Ensembl | |
| rs2151298821 | 2390 | T>I | No | Ensembl | |
| rs2151298824 | 2390 | T>P | No | Ensembl | |
| rs2151298824 | 2390 | T>S | No | Ensembl | |
| rs2151298821 | 2390 | T>S | No | Ensembl | |
| rs2151298802 | 2391 | M>I | No | Ensembl | |
| rs2151298810 | 2391 | M>K | No | Ensembl | |
| rs1352644449 | 2391 | M>L | No |
TOPMed gnomAD |
|
| rs2151298810 | 2391 | M>R | No | Ensembl | |
| rs2151298810 | 2391 | M>T | No | Ensembl | |
| rs1352644449 | 2391 | M>V | No |
TOPMed gnomAD |
|
| rs2151298791 | 2392 | A>G | No | Ensembl | |
| rs2151298797 | 2392 | A>P | No | Ensembl | |
| rs2151298797 | 2392 | A>S | No | Ensembl | |
| rs2151298797 | 2392 | A>T | No | Ensembl | |
| rs2151298791 | 2392 | A>V | No | Ensembl | |
| rs936528183 | 2393 | S>G | No | TOPMed | |
| rs766962344 | 2393 | S>I | No |
ExAC gnomAD |
|
| rs766962344 | 2393 | S>N | No |
ExAC gnomAD |
|
| rs2151298760 | 2393 | S>R | No | Ensembl | |
| rs2151298749 | 2394 | S>C | No | Ensembl | |
| rs2151298749 | 2394 | S>F | No | Ensembl | |
| rs2151298749 | 2394 | S>Y | No | Ensembl | |
| rs759047530 | 2395 | I>K | No |
ExAC TOPMed gnomAD |
|
| rs1300659854 | 2395 | I>M | No |
TOPMed gnomAD |
|
| rs2051788149 | 2395 | I>V | No | TOPMed | |
| rs2151298713 | 2396 | D>A | No | Ensembl | |
| rs2151298699 | 2396 | D>E | No | Ensembl | |
| rs2151298717 | 2396 | D>H | No | Ensembl | |
| rs2151298717 | 2396 | D>N | No | Ensembl | |
| rs2151298713 | 2396 | D>V | No | Ensembl | |
| rs2151298717 | 2396 | D>Y | No | Ensembl | |
| rs2151298694 | 2397 | Q>* | No | Ensembl | |
| rs2151298694 | 2397 | Q>E | No | Ensembl | |
| rs1322537886 | 2397 | Q>H | No | gnomAD | |
| rs2151298694 | 2397 | Q>K | No | Ensembl | |
| rs2151298687 | 2397 | Q>L | No | Ensembl | |
| rs2151298687 | 2397 | Q>R | No | Ensembl | |
|
COSM970534 rs1384538394 |
2398 | G>* | Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed gnomAD |
| rs2151298665 | 2398 | G>A | No | Ensembl | |
| rs2151298665 | 2398 | G>E | No | Ensembl | |
| rs1384538394 | 2398 | G>R | No |
TOPMed gnomAD |
|
| rs369215519 | 2399 | H>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151298650 | 2399 | H>L | No | Ensembl | |
| rs369215519 | 2399 | H>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151298650 | 2399 | H>P | No | Ensembl | |
| rs375864984 | 2399 | H>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs369215519 | 2399 | H>Y | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151298630 | 2400 | L>F | No | Ensembl | |
| rs2151298637 | 2400 | L>S | No | Ensembl | |
| rs2151298620 | 2401 | G>A | No | Ensembl | |
| rs2151298620 | 2401 | G>E | No | Ensembl | |
| rs2151298625 | 2401 | G>R | No | Ensembl | |
| rs2151298620 | 2401 | G>V | No | Ensembl | |
|
COSM6144616 rs2151298625 COSM1519218 |
2401 | G>W | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic Ensembl |
| rs2151298608 | 2402 | N>H | No | Ensembl | |
| rs2151298600 | 2402 | N>I | No | Ensembl | |
| rs2151298598 | 2402 | N>K | No | Ensembl | |
| rs2151298600 | 2402 | N>S | No | Ensembl | |
| rs2151298600 | 2402 | N>T | No | Ensembl | |
| rs1379999620 | 2403 | P>A | No |
TOPMed gnomAD |
|
| rs2051787291 | 2403 | P>H | No | TOPMed | |
| rs2051787291 | 2403 | P>L | No | TOPMed | |
| rs2051787291 | 2403 | P>R | No | TOPMed | |
| rs1379999620 | 2403 | P>S | No |
TOPMed gnomAD |
|
| rs1379999620 | 2403 | P>T | No |
TOPMed gnomAD |
|
| rs863223334 | 2404 | E>* | No | TOPMed | |
| rs2151298550 | 2404 | E>A | No | Ensembl | |
| rs55916120 | 2404 | E>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2151298550 | 2404 | E>G | No | Ensembl | |
| rs863223334 | 2404 | E>Q | No | TOPMed | |
| rs2151298550 | 2404 | E>V | No | Ensembl | |
| rs2151298537 | 2405 | Q>* | No | Ensembl | |
|
RCV001773253 rs2151298537 |
2405 | Q>E | No |
ClinVar Ensembl dbSNP |
|
|
rs2051786902 COSM3948542 |
2405 | Q>H | ovary [Cosmic] | No |
cosmic curated TOPMed |
| rs2151298537 | 2405 | Q>K | No | Ensembl | |
| rs2151298525 | 2406 | S>G | No | Ensembl | |
| rs2151298509 | 2406 | S>I | No | Ensembl | |
| rs2151298509 | 2406 | S>N | No | Ensembl | |
| rs2151298504 | 2406 | S>R | No | Ensembl | |
| rs2151298509 | 2406 | S>T | No | Ensembl | |
| rs2151298488 | 2407 | A>G | No | Ensembl | |
| rs2151298497 | 2407 | A>P | No | Ensembl | |
| rs2151298497 | 2407 | A>S | No | Ensembl | |
| rs2151298497 | 2407 | A>T | No | Ensembl | |
| rs2151298488 | 2407 | A>V | No | Ensembl | |
| rs1387733150 | 2408 | M>I | No |
TOPMed gnomAD |
|
| rs372005280 | 2408 | M>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151298463 | 2409 | L>F | No | Ensembl | |
| rs2151298455 | 2409 | L>H | No | Ensembl | |
| rs2151298455 | 2409 | L>P | No | Ensembl | |
| rs2151298463 | 2409 | L>V | No | Ensembl | |
| rs2151298435 | 2410 | P>A | No | Ensembl | |
| rs2151298429 | 2410 | P>H | No | Ensembl | |
| rs2151298429 | 2410 | P>L | No | Ensembl | |
| rs2151298429 | 2410 | P>R | No | Ensembl | |
| rs2151298435 | 2410 | P>S | No | Ensembl | |
| rs2151298435 | 2410 | P>T | No | Ensembl | |
| rs1449896134 | 2411 | Q>* | No | gnomAD | |
| rs1449896134 | 2411 | Q>E | No | gnomAD | |
| rs1263966674 | 2411 | Q>H | No | gnomAD | |
| rs1449896134 | 2411 | Q>K | No | gnomAD | |
| COSM1377810 | 2411 | Q>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2151298389 | 2412 | L>P | No | Ensembl | |
| rs2151298389 | 2412 | L>Q | No | Ensembl | |
| rs958995662 | 2412 | L>V | No |
TOPMed gnomAD |
|
| rs2151298375 | 2413 | N>D | No | Ensembl | |
| rs2151298375 | 2413 | N>H | No | Ensembl | |
| rs147915719 | 2413 | N>I | No |
ESP ExAC gnomAD |
|
| rs757539209 | 2413 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs147915719 | 2413 | N>S | No |
ESP ExAC gnomAD |
|
| rs147915719 | 2413 | N>T | No |
ESP ExAC gnomAD |
|
| rs2151298375 | 2413 | N>Y | No | Ensembl | |
| rs2151298353 | 2414 | T>A | No | Ensembl | |
| rs2151298345 | 2414 | T>I | No | Ensembl | |
| rs2151298353 | 2414 | T>P | No | Ensembl | |
| rs2151298345 | 2414 | T>S | No | Ensembl | |
| rs2151298353 | 2414 | T>S | No | Ensembl | |
| rs749448607 | 2415 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs2151298334 | 2415 | P>H | No | Ensembl | |
| rs2151298334 | 2415 | P>L | No | Ensembl | |
| rs2151298334 | 2415 | P>R | No | Ensembl | |
| rs749448607 | 2415 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs749448607 | 2415 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs1004921860 | 2416 | S>G | No | Ensembl | |
| rs2151298306 | 2416 | S>I | No | Ensembl | |
| rs2151298306 | 2416 | S>N | No | Ensembl | |
| rs2051785769 | 2416 | S>R | No | TOPMed | |
| rs2151298306 | 2416 | S>T | No | Ensembl | |
| TCGA novel | 2417 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151298292 | 2417 | R>K | No | Ensembl | |
| rs2151298292 | 2417 | R>T | No | Ensembl | |
| rs2151298281 | 2418 | S>C | No | Ensembl | |
| rs2151298281 | 2418 | S>G | No | Ensembl | |
| rs2051785641 | 2418 | S>I | No | TOPMed | |
| rs2051785641 | 2418 | S>N | No | TOPMed | |
| rs2151298261 | 2418 | S>R | No | Ensembl | |
| rs2051785641 | 2418 | S>T | No | TOPMed | |
| rs200566758 | 2419 | A>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs200566758 | 2419 | A>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs368297611 | 2419 | A>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs368297611 | 2419 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs368297611 | 2419 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs200566758 | 2419 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1230638928 | 2420 | L>M | No |
TOPMed gnomAD |
|
| rs2151298225 | 2420 | L>P | No | Ensembl | |
| rs2151298225 | 2420 | L>Q | No | Ensembl | |
| rs1230638928 | 2420 | L>V | No |
TOPMed gnomAD |
|
| rs2151298212 | 2421 | S>A | No | Ensembl | |
| rs2151298205 | 2421 | S>C | No | Ensembl | |
| rs2151298205 | 2421 | S>F | No | Ensembl | |
| rs2151298212 | 2421 | S>P | No | Ensembl | |
| rs2151298212 | 2421 | S>T | No | Ensembl | |
| rs2151298205 | 2421 | S>Y | No | Ensembl | |
| rs752612004 | 2422 | S>I | No |
ExAC gnomAD |
|
| rs752612004 | 2422 | S>N | No |
ExAC gnomAD |
|
| rs767532168 | 2422 | S>R | No |
ExAC gnomAD |
|
| rs752612004 | 2422 | S>T | No |
ExAC gnomAD |
|
| rs754944719 | 2423 | E>* | No |
ExAC TOPMed gnomAD |
|
| rs2151298172 | 2423 | E>A | No | Ensembl | |
| rs2051784943 | 2423 | E>D | No | TOPMed | |
| rs2151298172 | 2423 | E>G | No | Ensembl | |
| rs754944719 | 2423 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs754944719 | 2423 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs2151298172 | 2423 | E>V | No | Ensembl | |
| rs2151298152 | 2424 | L>P | No | Ensembl | |
| rs2151298152 | 2424 | L>Q | No | Ensembl | |
| rs2151298157 | 2424 | L>V | No | Ensembl | |
| rs2151298127 | 2425 | S>A | No | Ensembl | |
| rs545097572 | 2425 | S>C | No |
1000Genomes ExAC gnomAD |
|
| rs545097572 | 2425 | S>F | No |
1000Genomes ExAC gnomAD |
|
| rs2151298127 | 2425 | S>P | No | Ensembl | |
| rs2151298127 | 2425 | S>T | No | Ensembl | |
| rs2151298108 | 2426 | L>M | No | Ensembl | |
| rs750047644 | 2426 | L>P | No |
ExAC gnomAD |
|
| rs750047644 | 2426 | L>Q | No |
ExAC gnomAD |
|
| rs2151298073 | 2427 | V>D | No | Ensembl | |
| rs2151298073 | 2427 | V>G | No | Ensembl | |
| rs2051784533 | 2427 | V>I | No |
TOPMed gnomAD |
|
| rs2051784533 | 2427 | V>L | No |
TOPMed gnomAD |
|
| rs2151298047 | 2428 | G>E | No | Ensembl | |
|
RCV001579925 rs761138453 |
2428 | G>R | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2151298016 | 2429 | D>E | No | Ensembl | |
| rs2151298025 | 2429 | D>H | No | Ensembl | |
|
rs2151298025 COSM4060689 |
2429 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
|
rs2151298025 COSM330979 |
2429 | D>Y | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs2151298007 | 2430 | T>I | No | Ensembl | |
| rs2151298007 | 2430 | T>N | No | Ensembl | |
| rs2151298012 | 2430 | T>P | No | Ensembl | |
| rs2151298007 | 2430 | T>S | No | Ensembl | |
| rs2151298012 | 2430 | T>S | No | Ensembl | |
| rs775691341 | 2431 | T>A | No |
ExAC gnomAD |
|
| rs772690401 | 2431 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs775691341 | 2431 | T>P | No |
ExAC gnomAD |
|
| rs772690401 | 2431 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs1477566202 | 2432 | G>A | No | gnomAD | |
| rs1477566202 | 2432 | G>E | No | gnomAD | |
| rs2151297977 | 2432 | G>R | No | Ensembl | |
| rs2151297977 | 2432 | G>W | No | Ensembl | |
| rs2151297951 | 2433 | D>E | No | Ensembl | |
| rs2151297957 | 2433 | D>H | No | Ensembl | |
| rs2151297957 | 2433 | D>N | No | Ensembl | |
| rs367899910 | 2434 | T>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs367899910 | 2434 | T>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs367899910 | 2434 | T>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2151297947 | 2434 | T>S | No | Ensembl | |
| rs2151297918 | 2435 | L>Q | No | Ensembl | |
| rs2151297930 | 2435 | L>V | No | Ensembl | |
| rs2151297906 | 2436 | E>* | No | Ensembl | |
| rs370168199 | 2436 | E>D | No |
ESP ExAC gnomAD |
|
| rs2151297899 | 2436 | E>G | No | Ensembl | |
| rs2151297906 | 2436 | E>K | No | Ensembl | |
| rs2151297883 | 2437 | K>M | No | Ensembl | |
| rs2151297883 | 2437 | K>R | No | Ensembl | |
| rs2151297872 | 2438 | F>I | No | Ensembl | |
| rs1249871887 | 2438 | F>L | No | gnomAD | |
| rs2151297872 | 2438 | F>L | No | Ensembl | |
| rs2151297868 | 2438 | F>Y | No | Ensembl | |
| rs2151297855 | 2439 | V>M | No | Ensembl | |
| rs1245819305 | 2440 | E>D | No | TOPMed | |
| rs2151297836 | 2440 | E>G | No | Ensembl | |
|
COSM106942 rs145623010 |
2440 | E>K | skin [Cosmic] | No |
cosmic curated Ensembl |
| rs2151297836 | 2440 | E>V | No | Ensembl | |
| rs1341030470 | 2441 | G>C | No | gnomAD | |
| rs2151297817 | 2441 | G>D | No | Ensembl | |
| rs1341030470 | 2441 | G>R | No | gnomAD | |
| rs1341030470 | 2441 | G>S | No | gnomAD | |
| rs2151297804 | 2442 | L>* | No | Ensembl | |
| rs2051782997 | 2442 | L>M | No | Ensembl | |
| rs2151297804 | 2442 | L>S | No | Ensembl | |
| rs2151297795 | 2443 | L>K | No | Ensembl | |
| rs2151297783 | 2443 | L>L | No | Ensembl | |
| rs2151297783 | 2443 | L>W | No | Ensembl | |
| rs2151297772 | 2443 | L>Y | No | Ensembl |
No associated diseases with Q92793
5 regional properties for Q92793
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Phosphatidylinositol-specific phospholipase C, X domain | 316 - 468 | IPR000909 |
| domain | Phospholipase C, phosphatidylinositol-specific, Y domain | 540 - 656 | IPR001711 |
| domain | Phospholipase C-beta, C-terminal domain | 1004 - 1172 | IPR014815 |
| domain | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1, EF hand motif | 153 - 303 | IPR028400 |
| domain | PLC-beta, PH domain | 18 - 148 | IPR037862 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.1.48 | Transferring groups other than amino-acyl groups |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
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. |
| nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
| 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. |
| 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. |
18 GO annotations of molecular function
| Name | Definition |
|---|---|
| acetyltransferase activity | Catalysis of the transfer of an acetyl group to an acceptor molecule. |
| 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 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 H3K18 acetyltransferase activity | Catalysis of the reaction |
| histone H3K27 acetyltransferase activity | Catalysis of the reaction |
| MRF binding | Binding to Myogenic Regulatory Factor (MRF), a member of the basic Helix-Loop-Helix (bHLH) superfamily of transcription factors. |
| p53 binding | Binding to one of the p53 family of proteins. |
| peptide lactyltransferase 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 |
| 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. |
| 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 corepressor activity | A transcription coregulator activity that represses or decreases 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. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors 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. |
| zinc ion binding | Binding to a zinc ion (Zn). |
23 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| embryonic digit morphogenesis | The process, occurring in the embryo, by which the anatomical structures of the digit are generated and organized. A digit is one of the terminal divisions of an appendage, such as a finger or toe. |
| homeostatic process | Any biological process involved in the maintenance of an internal steady state. |
| N-terminal peptidyl-lysine acetylation | The acetylation of the N-terminal lysine of proteins. |
| negative regulation of transcription by RNA polymerase I | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase I. |
| 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. |
| non-canonical NF-kappaB signal transduction | The process in which a signal is passed on to downstream components within the cell through the NIK-dependent processing and activation of NF-KappaB. Begins with activation of the NF-KappaB-inducing kinase (NIK), which in turn phosphorylates and activates IkappaB kinase alpha (IKKalpha). IKKalpha phosphorylates the NF-Kappa B2 protein (p100) leading to p100 processing and release of an active NF-KappaB (p52). |
| 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 double-strand break repair via homologous recombination | Any process that activates or increases the frequency, rate or extent of double-strand break repair via homologous recombination. |
| positive regulation of protein localization to nucleus | Any process that activates or increases the frequency, rate or extent of protein localization to nucleus. |
| 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-containing complex assembly | The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. |
| regulation of cellular response to heat | Any process that modulates the frequency, rate or extent of cellular response to heat. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| regulation of smoothened signaling pathway | Any process that modulates the frequency, rate or extent of smoothened signaling. |
| 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. |
| rhythmic process | Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| 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. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q09472 | EP300 | Histone acetyltransferase p300 | Homo sapiens (Human) | EV |
| B2RWS6 | Ep300 | Histone acetyltransferase p300 | Mus musculus (Mouse) | SS |
| P45481 | Crebbp | Histone lysine acetyltransferase CREBBP | Mus musculus (Mouse) | SS |
| Q6JHU9 | Crebbp | Histone lysine acetyltransferase CREBBP | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAENLLDGPP | NPKRAKLSSP | GFSANDSTDF | GSLFDLENDL | PDELIPNGGE | LGLLNSGNLV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PDAASKHKQL | SELLRGGSGS | SINPGIGNVS | ASSPVQQGLG | GQAQGQPNSA | NMASLSAMGK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SPLSQGDSSA | PSLPKQAAST | SGPTPAASQA | LNPQAQKQVG | LATSSPATSQ | TGPGICMNAN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FNQTHPGLLN | SNSGHSLINQ | ASQGQAQVMN | GSLGAAGRGR | GAGMPYPTPA | MQGASSSVLA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ETLTQVSPQM | TGHAGLNTAQ | AGGMAKMGIT | GNTSPFGQPF | SQAGGQPMGA | TGVNPQLASK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QSMVNSLPTF | PTDIKNTSVT | NVPNMSQMQT | SVGIVPTQAI | ATGPTADPEK | RKLIQQQLVL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LLHAHKCQRR | EQANGEVRAC | SLPHCRTMKN | VLNHMTHCQA | GKACQVAHCA | SSRQIISHWK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NCTRHDCPVC | LPLKNASDKR | NQQTILGSPA | SGIQNTIGSV | GTGQQNATSL | SNPNPIDPSS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| MQRAYAALGL | PYMNQPQTQL | QPQVPGQQPA | QPQTHQQMRT | LNPLGNNPMN | IPAGGITTDQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QPPNLISESA | LPTSLGATNP | LMNDGSNSGN | IGTLSTIPTA | APPSSTGVRK | GWHEHVTQDL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RSHLVHKLVQ | AIFPTPDPAA | LKDRRMENLV | AYAKKVEGDM | YESANSRDEY | YHLLAEKIYK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| IQKELEEKRR | SRLHKQGILG | NQPALPAPGA | QPPVIPQAQP | VRPPNGPLSL | PVNRMQVSQG |
| 730 | 740 | 750 | 760 | 770 | 780 |
| MNSFNPMSLG | NVQLPQAPMG | PRAASPMNHS | VQMNSMGSVP | GMAISPSRMP | QPPNMMGAHT |
| 790 | 800 | 810 | 820 | 830 | 840 |
| NNMMAQAPAQ | SQFLPQNQFP | SSSGAMSVGM | GQPPAQTGVS | QGQVPGAALP | NPLNMLGPQA |
| 850 | 860 | 870 | 880 | 890 | 900 |
| SQLPCPPVTQ | SPLHPTPPPA | STAAGMPSLQ | HTTPPGMTPP | QPAAPTQPST | PVSSSGQTPT |
| 910 | 920 | 930 | 940 | 950 | 960 |
| PTPGSVPSAT | QTQSTPTVQA | AAQAQVTPQP | QTPVQPPSVA | TPQSSQQQPT | PVHAQPPGTP |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| LSQAAASIDN | RVPTPSSVAS | AETNSQQPGP | DVPVLEMKTE | TQAEDTEPDP | GESKGEPRSE |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| MMEEDLQGAS | QVKEETDIAE | QKSEPMEVDE | KKPEVKVEVK | EEEESSSNGT | ASQSTSPSQP |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| RKKIFKPEEL | RQALMPTLEA | LYRQDPESLP | FRQPVDPQLL | GIPDYFDIVK | NPMDLSTIKR |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| KLDTGQYQEP | WQYVDDVWLM | FNNAWLYNRK | TSRVYKFCSK | LAEVFEQEID | PVMQSLGYCC |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| GRKYEFSPQT | LCCYGKQLCT | IPRDAAYYSY | QNRYHFCEKC | FTEIQGENVT | LGDDPSQPQT |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| TISKDQFEKK | KNDTLDPEPF | VDCKECGRKM | HQICVLHYDI | IWPSGFVCDN | CLKKTGRPRK |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| ENKFSAKRLQ | TTRLGNHLED | RVNKFLRRQN | HPEAGEVFVR | VVASSDKTVE | VKPGMKSRFV |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| DSGEMSESFP | YRTKALFAFE | EIDGVDVCFF | GMHVQEYGSD | CPPPNTRRVY | ISYLDSIHFF |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| RPRCLRTAVY | HEILIGYLEY | VKKLGYVTGH | IWACPPSEGD | DYIFHCHPPD | QKIPKPKRLQ |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| EWYKKMLDKA | FAERIIHDYK | DIFKQATEDR | LTSAKELPYF | EGDFWPNVLE | ESIKELEQEE |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| EERKKEESTA | ASETTEGSQG | DSKNAKKKNN | KKTNKNKSSI | SRANKKKPSM | PNVSNDLSQK |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| LYATMEKHKE | VFFVIHLHAG | PVINTLPPIV | DPDPLLSCDL | MDGRDAFLTL | ARDKHWEFSS |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| LRRSKWSTLC | MLVELHTQGQ | DRFVYTCNEC | KHHVETRWHC | TVCEDYDLCI | NCYNTKSHAH |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| KMVKWGLGLD | DEGSSQGEPQ | SKSPQESRRL | SIQRCIQSLV | HACQCRNANC | SLPSCQKMKR |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| VVQHTKGCKR | KTNGGCPVCK | QLIALCCYHA | KHCQENKCPV | PFCLNIKHKL | RQQQIQHRLQ |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| QAQLMRRRMA | TMNTRNVPQQ | SLPSPTSAPP | GTPTQQPSTP | QTPQPPAQPQ | PSPVSMSPAG |
| 1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
| FPSVARTQPP | TTVSTGKPTS | QVPAPPPPAQ | PPPAAVEAAR | QIEREAQQQQ | HLYRVNINNS |
| 1990 | 2000 | 2010 | 2020 | 2030 | 2040 |
| MPPGRTGMGT | PGSQMAPVSL | NVPRPNQVSG | PVMPSMPPGQ | WQQAPLPQQQ | PMPGLPRPVI |
| 2050 | 2060 | 2070 | 2080 | 2090 | 2100 |
| SMQAQAAVAG | PRMPSVQPPR | SISPSALQDL | LRTLKSPSSP | QQQQQVLNIL | KSNPQLMAAF |
| 2110 | 2120 | 2130 | 2140 | 2150 | 2160 |
| IKQRTAKYVA | NQPGMQPQPG | LQSQPGMQPQ | PGMHQQPSLQ | NLNAMQAGVP | RPGVPPQQQA |
| 2170 | 2180 | 2190 | 2200 | 2210 | 2220 |
| MGGLNPQGQA | LNIMNPGHNP | NMASMNPQYR | EMLRRQLLQQ | QQQQQQQQQQ | QQQQQQGSAG |
| 2230 | 2240 | 2250 | 2260 | 2270 | 2280 |
| MAGGMAGHGQ | FQQPQGPGGY | PPAMQQQQRM | QQHLPLQGSS | MGQMAAQMGQ | LGQMGQPGLG |
| 2290 | 2300 | 2310 | 2320 | 2330 | 2340 |
| ADSTPNIQQA | LQQRILQQQQ | MKQQIGSPGQ | PNPMSPQQHM | LSGQPQASHL | PGQQIATSLS |
| 2350 | 2360 | 2370 | 2380 | 2390 | 2400 |
| NQVRSPAPVQ | SPRPQSQPPH | SSPSPRIQPQ | PSPHHVSPQT | GSPHPGLAVT | MASSIDQGHL |
| 2410 | 2420 | 2430 | 2440 | ||
| GNPEQSAMLP | QLNTPSRSAL | SSELSLVGDT | TGDTLEKFVE | GL |