P08922
Gene name |
ROS1 (MCF3, ROS) |
Protein name |
Proto-oncogene tyrosine-protein kinase ROS |
Names |
EC 2.7.10.1 , Proto-oncogene c-Ros , Proto-oncogene c-Ros-1 , Receptor tyrosine kinase c-ros oncogene 1 , c-Ros receptor tyrosine kinase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6098 |
EC number |
2.7.10.1: Protein-tyrosine kinases |
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
1945-2215 (Protein kinase domain) |
Relief mechanism |
Others |
Assay |
|
Accessory elements
2101-2126 (Activation loop from InterPro)
Target domain |
1945-2222 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Artim SC et al. (2012) "Assessing the range of kinase autoinhibition mechanisms in the insulin receptor family", The Biochemical journal, 448, 213-20
- Uchikawa E et al. (2019) "Activation mechanism of the insulin receptor revealed by cryo-EM structure of the fully liganded receptor-ligand complex", eLife, 8,
- Nielsen J et al. (2022) "Structural Investigations of Full-Length Insulin Receptor Dynamics and Signalling", Journal of molecular biology, 434, 167458
- Chen YS et al. (2021) "Insertion of a synthetic switch into insulin provides metabolite-dependent regulation of hormone-receptor activation", Proceedings of the National Academy of Sciences of the United States of America, 118,
- Craddock BP et al. (2007) "Autoinhibition of the insulin-like growth factor I receptor by the juxtamembrane region", FEBS letters, 581, 3235-40
Autoinhibited structure

Activated structure

5 structures for P08922
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
3ZBF | X-ray | 220 A | A | 1934-2232 | PDB |
4UXL | X-ray | 240 A | A | 1934-2232 | PDB |
7Z5W | X-ray | 225 A | A/B | 1930-2256 | PDB |
7Z5X | X-ray | 204 A | A/B | 1930-2256 | PDB |
AF-P08922-F1 | Predicted | AlphaFoldDB |
5678 variants for P08922
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA16602597 rs1057519788 RCV000418413 |
2032 | G>R | Lung adenocarcinoma [ClinVar] | Yes |
Ensembl ClinGen ClinVar dbSNP |
COSM5023743 COSM5023742 rs2128753497 |
2 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs1489703242 | 3 | N>H | No | gnomAD | |
rs369466253 | 4 | I>F | No |
ESP TOPMed gnomAD |
|
rs369466253 | 4 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP NCI-TCGA TOPMed gnomAD |
rs2128753481 | 5 | Y>F | No | Ensembl | |
rs1340793753 | 5 | Y>H | No | gnomAD | |
rs754955040 | 6 | C>S | No |
ExAC gnomAD |
|
rs754955040 | 6 | C>Y | No |
ExAC gnomAD |
|
rs2128753469 | 7 | L>F | No | Ensembl | |
rs1229447233 | 8 | I>V | No |
TOPMed gnomAD |
|
rs770579408 | 9 | P>L | No |
ExAC TOPMed gnomAD |
|
COSM3619927 COSM3619926 |
9 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1387124417 | 10 | K>E | No | gnomAD | |
rs531081004 | 10 | K>N | No | 1000Genomes | |
rs772804887 | 11 | L>P | No |
ExAC TOPMed gnomAD |
|
rs772804887 | 11 | L>R | No |
ExAC TOPMed gnomAD |
|
rs1776082502 | 12 | V>D | No | gnomAD | |
rs1429387157 | 12 | V>I | No | gnomAD | |
rs45606237 VAR_041442 |
13 | N>S | No |
UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1170566188 | 15 | A>V | No | gnomAD | |
rs1562400875 | 16 | T>A | No | Ensembl | |
rs1464664635 | 16 | T>I | No |
TOPMed gnomAD |
|
TCGA novel | 16 | T>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1464664635 | 16 | T>N | No |
TOPMed gnomAD |
|
rs1562400875 | 16 | T>P | No | Ensembl | |
rs776963776 | 17 | L>F | No |
ExAC gnomAD |
|
rs2128753394 | 18 | G>D | No | Ensembl | |
rs1435247456 | 18 | G>S | No | gnomAD | |
rs2128753394 | 18 | G>V | No | Ensembl | |
rs1179507437 | 19 | C>R | No | gnomAD | |
COSM3994572 COSM3994573 rs747481675 |
19 | C>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs747481675 | 19 | C>Y | No |
ExAC TOPMed gnomAD |
|
TCGA novel rs2128753371 |
21 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs2128753371 | 21 | W>C | No | Ensembl | |
COSM4505330 COSM4505331 rs1562400768 |
23 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
rs1251827246 | 24 | V>A | No |
TOPMed gnomAD |
|
rs1251827246 | 24 | V>E | No |
TOPMed gnomAD |
|
rs776025396 | 25 | V>L | No |
ExAC TOPMed gnomAD |
|
rs776025396 | 25 | V>M | No |
ExAC TOPMed gnomAD |
|
rs2128753344 | 26 | Q>* | No | Ensembl | |
rs1776077709 | 26 | Q>L | No | TOPMed | |
rs1776077709 | 26 | Q>R | No | TOPMed | |
rs1776077506 | 27 | C>R | No | TOPMed | |
rs2128753334 | 27 | C>Y | No | Ensembl | |
rs924427270 | 28 | T>K | No |
TOPMed gnomAD |
|
rs1776076888 | 29 | V>D | No | TOPMed | |
rs2128753322 | 29 | V>I | No | Ensembl | |
rs1776076278 | 33 | C>G | No | TOPMed | |
rs2128753295 | 33 | C>Y | No | Ensembl | |
rs1776075738 | 34 | L>V | No | TOPMed | |
rs1776075507 | 35 | K>N | No |
TOPMed gnomAD |
|
rs371523377 | 36 | S>L | No |
ESP TOPMed gnomAD |
|
rs1287982877 | 36 | S>L | No | gnomAD | |
rs779056086 | 37 | C>S | No | ExAC | |
rs746635415 | 38 | V>A | No | Ensembl | |
rs2128753225 TCGA novel |
38 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
TCGA novel | 39 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2128753204 | 40 | N>Y | No | Ensembl | |
rs1286253504 | 41 | L>R | No |
TOPMed gnomAD |
|
rs757365700 | 41 | L>V | No |
ExAC gnomAD |
|
rs2128746482 | 42 | G>D | No | Ensembl | |
rs1775508919 | 42 | G>S | No | Ensembl | |
rs1775508513 | 43 | Q>R | No | TOPMed | |
rs376113207 | 44 | Q>K | No |
ESP ExAC TOPMed gnomAD |
|
rs779908946 | 45 | L>V | No |
ExAC gnomAD |
|
COSM3619925 COSM3619924 rs1775507306 |
47 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
COSM3697372 rs2128746440 COSM3697373 |
48 | G>D | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
rs758251496 | 48 | G>S | No |
ExAC gnomAD |
|
rs1460150065 | 49 | T>A | No | TOPMed | |
rs1347271467 | 49 | T>I | No | gnomAD | |
rs1347271467 | 49 | T>R | No | gnomAD | |
rs778252640 | 50 | P>L | No |
ExAC gnomAD |
|
rs778252640 | 50 | P>R | No |
ExAC gnomAD |
|
rs1299679736 | 51 | H>Y | No | TOPMed | |
COSM483334 COSM1645900 |
53 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs916990656 | 53 | L>R | No | Ensembl | |
rs756807424 | 54 | S>R | No |
ExAC TOPMed gnomAD |
|
rs1163527213 | 54 | S>R | No | gnomAD | |
TCGA novel | 55 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs553213552 | 56 | P>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
rs753367775 | 56 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs2128746379 | 56 | P>S | No | Ensembl | |
rs1775327594 | 57 | C>Y | No | TOPMed | |
rs1562388720 | 59 | Q>* | No | Ensembl | |
rs778854057 | 59 | Q>P | No |
ExAC gnomAD |
|
rs1775326733 | 60 | G>* | No | TOPMed | |
rs1251092701 | 60 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1020449619 | 61 | C>Y | No |
TOPMed gnomAD |
|
rs757191782 | 62 | H>Q | No |
ExAC TOPMed gnomAD |
|
rs1775325640 | 63 | F>L | No | Ensembl | |
rs1219188453 | 64 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
COSM3619923 COSM3619922 rs1346089547 |
65 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs758953330 | 67 | V>A | No | Ensembl | |
rs2128744294 | 67 | V>I | No | Ensembl | |
rs1285596214 | 68 | D>Y | No | gnomAD | |
rs1775324534 | 69 | Q>E | No |
TOPMed gnomAD |
|
rs1775324307 | 69 | Q>L | No | TOPMed | |
rs753306008 | 71 | N>H | No |
ExAC gnomAD |
|
rs1241089279 | 72 | C>* | No | TOPMed | |
COSM1072638 COSM4867278 |
72 | C>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs777286880 | 74 | L>V | No |
ExAC gnomAD |
|
rs1775322732 | 75 | K>* | No | Ensembl | |
rs755740564 | 76 | C>R | No |
ExAC gnomAD |
|
rs140860347 | 77 | R>P | No |
ESP ExAC gnomAD |
|
rs140860347 | 77 | R>Q | No |
ESP ExAC gnomAD |
|
rs746684942 | 77 | R>W | No |
ExAC TOPMed gnomAD |
|
rs758893022 | 78 | E>Q | No |
ExAC TOPMed |
|
rs150941257 | 79 | S>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs757736576 | 80 | C>R | No |
ExAC TOPMed gnomAD |
|
rs1774738285 | 80 | C>W | No | TOPMed | |
rs1373871205 | 81 | E>D | No | TOPMed | |
rs1405807699 | 82 | V>G | No | gnomAD | |
rs1774737792 | 82 | V>I | No | TOPMed | |
rs2128735130 | 83 | G>D | No | Ensembl | |
rs753907292 | 84 | C>F | No |
ExAC TOPMed gnomAD |
|
rs753907292 | 84 | C>Y | No |
ExAC TOPMed gnomAD |
|
rs1774736707 | 85 | S>I | No | Ensembl | |
rs369171859 | 85 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
rs775755714 | 86 | S>G | No |
ExAC TOPMed gnomAD |
|
rs2128735094 | 86 | S>N | No | Ensembl | |
rs545356487 | 86 | S>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs145609658 | 87 | A>G | No |
ESP ExAC TOPMed gnomAD |
|
COSM3157950 COSM3157951 rs376101389 |
87 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs145609658 | 87 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1295924873 | 88 | E>A | No |
TOPMed gnomAD |
|
rs1295924873 | 88 | E>G | No |
TOPMed gnomAD |
|
rs2128735058 | 88 | E>K | No | Ensembl | |
rs2128735041 | 89 | G>C | No | Ensembl | |
rs2128735041 | 89 | G>S | No | Ensembl | |
rs1774733694 | 90 | A>T | No | TOPMed | |
rs2128735022 | 90 | A>V | No | Ensembl | |
rs2128735018 | 92 | E>K | No | Ensembl | |
rs1202390995 | 93 | E>G | No |
TOPMed gnomAD |
|
rs1774733223 | 93 | E>K | No | TOPMed | |
rs1202390995 | 93 | E>V | No |
TOPMed gnomAD |
|
rs576811751 | 94 | E>A | No |
1000Genomes ExAC gnomAD |
|
rs373938735 | 94 | E>K | No |
TOPMed gnomAD |
|
rs373938735 | 94 | E>Q | No |
TOPMed gnomAD |
|
rs1774731684 | 95 | V>I | No | TOPMed | |
rs1562379765 | 96 | L>V | No | Ensembl | |
rs771857560 | 97 | E>* | No |
ExAC TOPMed gnomAD |
|
rs771857560 | 97 | E>K | No |
ExAC TOPMed gnomAD |
|
rs1386947086 | 98 | N>D | No | gnomAD | |
rs771802350 | 98 | N>K | No |
ExAC TOPMed gnomAD |
|
rs1386947086 | 98 | N>Y | No | gnomAD | |
rs1226977360 | 99 | A>E | No |
TOPMed gnomAD |
|
rs2128727040 | 99 | A>P | No | Ensembl | |
rs1226977360 | 99 | A>V | No |
TOPMed gnomAD |
|
rs1582866217 | 100 | D>A | No | Ensembl | |
rs2128727007 | 100 | D>E | No | Ensembl | |
rs2128727016 | 100 | D>H | No | Ensembl | |
rs1582866217 | 100 | D>V | No | Ensembl | |
rs2128727016 | 100 | D>Y | No | Ensembl | |
rs532503107 | 101 | L>I | No |
1000Genomes ExAC gnomAD |
|
rs771267442 | 103 | T>A | No |
ExAC TOPMed gnomAD |
|
rs2128726979 | 103 | T>I | No | Ensembl | |
rs771267442 | 103 | T>P | No |
ExAC TOPMed gnomAD |
|
rs2128726979 | 103 | T>S | No | Ensembl | |
rs771267442 | 103 | T>S | No |
ExAC TOPMed gnomAD |
|
rs1774226659 | 104 | A>D | No | gnomAD | |
rs2128726964 | 104 | A>P | No | Ensembl | |
rs2128726964 | 104 | A>T | No | Ensembl | |
rs1774226659 | 104 | A>V | No | gnomAD | |
rs1774226111 | 105 | P>A | No | Ensembl | |
rs767519397 | 105 | P>L | No |
ExAC TOPMed gnomAD |
|
rs767519397 | 105 | P>R | No |
ExAC TOPMed gnomAD |
|
rs1774226111 | 105 | P>S | No | Ensembl | |
rs2128726920 | 106 | F>I | No | Ensembl | |
rs2128726919 | 106 | F>L | No | Ensembl | |
rs2128726920 | 106 | F>L | No | Ensembl | |
rs2128726920 | 106 | F>V | No | Ensembl | |
rs1774224661 | 107 | A>D | No | TOPMed | |
rs752731431 | 107 | A>T | No |
ExAC gnomAD |
|
rs781268704 | 108 | S>C | No |
ExAC TOPMed gnomAD |
|
rs781268704 | 108 | S>F | No |
ExAC TOPMed gnomAD |
|
rs2128726906 | 108 | S>T | No | Ensembl | |
rs781268704 | 108 | S>Y | No |
ExAC TOPMed gnomAD |
|
rs2128726871 | 109 | S>C | No | Ensembl | |
rs2128726871 | 109 | S>F | No | Ensembl | |
rs995478812 | 109 | S>P | No | Ensembl | |
rs995478812 | 109 | S>T | No | Ensembl | |
rs2128726871 | 109 | S>Y | No | Ensembl | |
rs751815622 | 110 | I>T | No |
ExAC TOPMed gnomAD |
|
rs755166521 | 110 | I>V | No |
ExAC gnomAD |
|
rs2128726850 | 111 | G>* | No | Ensembl | |
rs2128726841 | 111 | G>A | No | Ensembl | |
rs2128726841 | 111 | G>E | No | Ensembl | |
rs2128726850 COSM5061362 COSM5061363 |
111 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA Cosmic |
rs2128726841 | 111 | G>V | No | Ensembl | |
rs2128726831 | 112 | S>C | No | Ensembl | |
rs2128726831 | 112 | S>G | No | Ensembl | |
rs765071235 | 112 | S>I | No |
ExAC gnomAD |
|
rs765071235 | 112 | S>N | No |
ExAC gnomAD |
|
rs2128726809 COSM125926 |
112 | S>R | upper_aerodigestive_tract [Cosmic] | No |
cosmic curated Ensembl |
rs765071235 | 112 | S>T | No |
ExAC gnomAD |
|
rs2128726793 | 113 | H>Q | No | Ensembl | |
rs897147463 | 113 | H>Y | No | TOPMed | |
rs1382176433 | 114 | N>I | No |
TOPMed gnomAD |
|
rs1316297212 | 114 | N>K | No | gnomAD | |
rs1382176433 | 114 | N>S | No |
TOPMed gnomAD |
|
TCGA novel | 114 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2128726769 | 115 | M>I | No | Ensembl | |
rs2128726778 | 115 | M>L | No | Ensembl | |
rs761461938 | 116 | T>I | No |
ExAC TOPMed gnomAD |
|
rs761461938 | 116 | T>K | No |
ExAC TOPMed gnomAD |
|
rs761461938 | 116 | T>R | No |
ExAC TOPMed gnomAD |
|
rs2128726736 | 117 | L>* | No | Ensembl | |
rs374639065 | 118 | R>* | No |
ESP ExAC TOPMed gnomAD |
|
rs374639065 COSM136564 |
118 | R>G | skin [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
rs867759865 | 118 | R>L | No |
TOPMed gnomAD |
|
rs867759865 | 118 | R>P | No |
TOPMed gnomAD |
|
COSM1072635 rs867759865 COSM1072633 COSM3429917 |
118 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs1388562198 | 119 | W>* | No |
TOPMed gnomAD |
|
rs2128726704 | 119 | W>* | No | Ensembl | |
rs1388562198 | 119 | W>C | No |
TOPMed gnomAD |
|
rs1159992483 | 119 | W>R | No | gnomAD | |
rs2128726704 | 119 | W>S | No | Ensembl | |
rs2128726692 | 120 | K>I | No | Ensembl | |
rs1177498366 | 120 | K>Q | No | Ensembl | |
rs2128726692 | 120 | K>R | No | Ensembl | |
rs2128726681 | 121 | S>A | No | Ensembl | |
rs2128726676 | 121 | S>C | No | Ensembl | |
rs2128726676 | 121 | S>F | No | Ensembl | |
rs2128726681 | 121 | S>T | No | Ensembl | |
rs763901089 | 122 | A>E | No |
ExAC TOPMed gnomAD |
|
rs763901089 | 122 | A>G | No |
ExAC TOPMed gnomAD |
|
rs1455911125 | 122 | A>P | No | gnomAD | |
rs1455911125 | 122 | A>T | No | gnomAD | |
COSM1173172 rs763901089 COSM1173173 |
122 | A>V | oesophagus [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs2128726635 | 123 | N>D | No | Ensembl | |
rs2128726635 | 123 | N>H | No | Ensembl | |
rs1774218848 | 123 | N>I | No | TOPMed | |
rs2128726625 | 123 | N>K | No | Ensembl | |
rs1774218848 | 123 | N>S | No | TOPMed | |
rs2128726635 | 123 | N>Y | No | Ensembl | |
rs370602941 | 124 | F>C | No |
ESP ExAC TOPMed gnomAD |
|
rs1774218568 | 124 | F>I | No | Ensembl | |
rs2128726607 | 124 | F>L | No | Ensembl | |
rs1774218568 | 124 | F>L | No | Ensembl | |
rs370602941 | 124 | F>Y | No |
ESP ExAC TOPMed gnomAD |
|
rs775119219 | 125 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs775119219 | 125 | S>F | No |
ExAC TOPMed gnomAD |
|
rs2128726603 | 125 | S>T | No | Ensembl | |
rs2128726592 | 126 | G>* | No | Ensembl | |
rs34245787 | 126 | G>A | No | TOPMed | |
COSM3619918 rs34245787 COSM3619919 |
126 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
rs2128726592 | 126 | G>R | No | Ensembl | |
rs34245787 VAR_041443 |
126 | G>V | No |
UniProt TOPMed dbSNP |
|
rs2128726553 | 127 | V>A | No | Ensembl | |
rs2128726553 | 127 | V>E | No | Ensembl | |
rs2128726572 | 127 | V>I | No | Ensembl | |
rs2128726572 | 127 | V>L | No | Ensembl | |
rs2128726540 | 128 | K>* | No | Ensembl | |
rs2128726540 | 128 | K>E | No | Ensembl | |
rs2128726536 | 128 | K>I | No | Ensembl | |
rs2128726534 | 128 | K>N | No | Ensembl | |
rs747973168 | 129 | Y>* | No | Ensembl | |
rs2128726532 | 129 | Y>F | No | Ensembl | |
rs1774216427 | 130 | I>F | No |
TOPMed gnomAD |
|
rs2128726504 | 130 | I>M | No | Ensembl | |
rs759258218 | 130 | I>N | No |
ExAC gnomAD |
|
rs1774216427 | 130 | I>V | No |
TOPMed gnomAD |
|
rs2128726502 | 131 | I>F | No | Ensembl | |
rs2128726489 | 131 | I>N | No | Ensembl | |
rs1774215910 | 132 | Q>* | No | Ensembl | |
rs1774215910 | 132 | Q>E | No | Ensembl | |
rs1774215639 | 132 | Q>H | No | gnomAD | |
rs2128726479 | 132 | Q>L | No | Ensembl | |
rs2128726463 | 133 | W>* | No | Ensembl | |
rs867025812 | 133 | W>* | No | Ensembl | |
rs867025812 | 133 | W>C | No | Ensembl | |
rs2128726463 | 133 | W>L | No | Ensembl | |
rs201807486 | 133 | W>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2128726463 | 133 | W>S | No | Ensembl | |
rs2128726454 | 134 | K>I | No | Ensembl | |
rs770628464 | 135 | Y>* | No |
ExAC TOPMed gnomAD |
|
rs746896316 | 135 | Y>* | No | ExAC | |
rs2128726440 | 135 | Y>F | No | Ensembl | |
rs1306678916 | 135 | Y>H | No | gnomAD | |
rs1306678916 | 135 | Y>N | No | gnomAD | |
rs2128726426 | 136 | A>G | No | Ensembl | |
rs2128726434 | 136 | A>P | No | Ensembl | |
rs2128726434 | 136 | A>S | No | Ensembl | |
rs2128726434 | 136 | A>T | No | Ensembl | |
rs2128726426 | 136 | A>V | No | Ensembl | |
rs1774214350 | 137 | Q>* | No | TOPMed | |
rs1774214350 | 137 | Q>E | No | TOPMed | |
rs2128726410 | 137 | Q>H | No | Ensembl | |
rs1774214350 | 137 | Q>K | No | TOPMed | |
rs375619431 | 138 | L>F | No |
ESP ExAC TOPMed gnomAD |
|
rs1774213824 | 138 | L>H | No | TOPMed | |
rs1774213824 | 138 | L>P | No | TOPMed | |
rs375619431 | 138 | L>V | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 139 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2128726379 | 139 | L>Q | No | Ensembl | |
rs2128726379 | 139 | L>R | No | Ensembl | |
rs2128726386 | 139 | L>V | No | Ensembl | |
rs2128726365 | 140 | G>* | No | Ensembl | |
rs2128726348 | 140 | G>A | No | Ensembl | |
rs2128726348 | 140 | G>E | No | Ensembl | |
rs2128726365 | 140 | G>R | No | Ensembl | |
rs773654547 | 141 | S>C | No |
ExAC gnomAD |
|
rs773654547 | 141 | S>G | No |
ExAC gnomAD |
|
rs2128726332 | 141 | S>I | No | Ensembl | |
rs2128726323 | 141 | S>R | No | Ensembl | |
rs2128726332 | 141 | S>T | No | Ensembl | |
rs2128726303 | 142 | W>* | No | Ensembl | |
TCGA novel rs2128726291 |
142 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs2128726291 | 142 | W>C | No | Ensembl | |
rs373796868 | 142 | W>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs373796868 RCV000908623 |
142 | W>R | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2128726303 | 142 | W>S | No | Ensembl | |
rs2128726284 | 143 | T>I | No | Ensembl | |
rs2128726284 | 143 | T>S | No | Ensembl | |
rs1582865569 | 144 | Y>* | No | TOPMed | |
rs1340640500 | 144 | Y>C | No | gnomAD | |
TCGA novel | 144 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2128726274 | 144 | Y>N | No | Ensembl | |
rs961074372 | 145 | T>I | No |
TOPMed gnomAD |
|
rs1998206 VAR_030648 |
145 | T>P | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2128726240 | 146 | K>* | No | Ensembl | |
rs2128726240 | 146 | K>E | No | Ensembl | |
rs2128726231 | 146 | K>M | No | Ensembl | |
COSM4785858 COSM1440109 |
146 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 146 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2128726231 | 146 | K>R | No | Ensembl | |
rs1201922933 | 147 | T>I | No | gnomAD | |
rs1201922933 | 147 | T>N | No | gnomAD | |
rs1582862111 | 148 | V>A | No | Ensembl | |
COSM4785530 COSM1440107 |
148 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs549177200 | 151 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs549177200 | 151 | P>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1279832487 | 152 | S>F | No | TOPMed | |
rs1774104819 | 152 | S>P | No | Ensembl | |
rs752552490 | 153 | Y>C | No |
ExAC TOPMed gnomAD |
|
rs1190441982 | 153 | Y>D | No | TOPMed | |
rs113723823 | 154 | V>A | No | TOPMed | |
rs1774102862 | 155 | V>A | No | TOPMed | |
rs1774103053 | 155 | V>I | No |
TOPMed gnomAD |
|
rs905402237 | 156 | K>E | No |
TOPMed gnomAD |
|
rs1774102405 | 157 | P>A | No | Ensembl | |
rs1215188906 | 158 | L>M | No | gnomAD | |
TCGA novel | 158 | L>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs765959636 | 159 | H>P | No |
ExAC gnomAD |
|
rs750152817 | 159 | H>Q | No |
ExAC gnomAD |
|
rs2128724406 | 159 | H>Y | No | Ensembl | |
rs1774100802 | 161 | F>L | No | Ensembl | |
rs1774100603 | 162 | T>I | No | Ensembl | |
rs2128724377 | 163 | E>Q | No | Ensembl | |
rs1436374132 | 164 | Y>C | No | TOPMed | |
rs180777109 | 164 | Y>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs180777109 | 164 | Y>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs769105985 | 167 | R>* | No |
ExAC gnomAD |
|
rs769105985 | 167 | R>G | No |
ExAC gnomAD |
|
rs2243380 | 167 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2243380 VAR_030649 |
167 | R>Q | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1334656084 | 168 | V>G | No | gnomAD | |
rs2128724330 | 168 | V>M | No | Ensembl | |
rs898152846 | 169 | V>D | No |
TOPMed gnomAD |
|
rs1774097984 | 169 | V>F | No | TOPMed | |
rs1774098543 | 169 | V>I | No | Ensembl | |
rs1774097984 | 169 | V>L | No | TOPMed | |
rs1178798860 | 170 | W>C | No | gnomAD | |
rs1417557820 | 172 | F>S | No | gnomAD | |
rs2128724286 | 173 | T>I | No | Ensembl | |
rs1407611836 | 173 | T>P | No | gnomAD | |
rs772261492 | 174 | A>E | No |
ExAC TOPMed gnomAD |
|
rs772261492 | 174 | A>V | No |
ExAC TOPMed gnomAD |
|
COSM117963 rs2128724265 |
177 | Q>* | ovary [Cosmic] | No |
cosmic curated Ensembl |
rs373315543 | 177 | Q>R | No |
ESP ExAC gnomAD |
|
rs771282907 | 178 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs771282907 | 178 | L>I | No |
ExAC TOPMed gnomAD |
|
rs747911152 | 179 | Y>C | No |
ExAC TOPMed gnomAD |
|
COSM4902471 COSM4902472 |
180 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs754846972 | 181 | P>S | No |
ExAC TOPMed gnomAD |
|
rs2128724228 | 182 | P>T | No | Ensembl | |
rs751553775 | 183 | S>G | No |
ExAC gnomAD |
|
rs2128724215 | 184 | P>H | No | Ensembl | |
rs757981971 | 185 | S>G | No |
ExAC gnomAD |
|
rs1419160274 | 185 | S>I | No |
TOPMed gnomAD |
|
rs749944544 | 187 | R>G | No |
ExAC gnomAD |
|
rs1774092614 | 187 | R>K | No | Ensembl | |
rs1774092199 | 188 | T>I | No | Ensembl | |
rs1774092408 | 188 | T>P | No | Ensembl | |
COSM1697844 COSM1697843 rs764834127 |
189 | H>N | skin [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs1338468574 | 189 | H>Q | No |
TOPMed gnomAD |
|
COSM3828904 COSM3828903 |
189 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2128724167 | 190 | P>L | No | 1000Genomes | |
rs1451448120 | 190 | P>S | No | gnomAD | |
rs761479222 | 191 | H>D | No |
ExAC TOPMed gnomAD |
|
rs754183720 | 191 | H>P | No |
ExAC TOPMed gnomAD |
|
rs754183720 | 191 | H>R | No |
ExAC TOPMed gnomAD |
|
rs761479222 | 191 | H>Y | No |
ExAC TOPMed gnomAD |
|
COSM3619915 COSM3619914 |
192 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs761084079 | 193 | V>I | No |
ExAC gnomAD |
|
rs1298952570 COSM421099 COSM3157931 COSM421100 |
194 | P>S | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs766602764 | 195 | E>Q | No |
ExAC gnomAD |
|
rs763259655 | 196 | T>I | No |
ExAC gnomAD |
|
rs2128716964 | 197 | A>T | No | Ensembl | |
COSM95213 rs1302819459 |
198 | P>L | lung [Cosmic] | No |
cosmic curated gnomAD |
rs769919414 | 198 | P>S | No |
ExAC TOPMed gnomAD |
|
rs769919414 | 198 | P>T | No |
ExAC TOPMed gnomAD |
|
rs746782086 | 200 | I>V | No |
ExAC gnomAD |
|
rs775173615 | 201 | R>G | No |
ExAC gnomAD |
|
rs1296913853 | 201 | R>S | No | gnomAD | |
rs377231905 | 202 | N>H | No |
ESP ExAC gnomAD |
|
rs564942341 | 203 | I>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs564942341 | 203 | I>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1773550940 | 203 | I>V | No | Ensembl | |
rs1009843617 | 204 | E>K | No |
TOPMed gnomAD |
|
rs1009843617 | 204 | E>Q | No |
TOPMed gnomAD |
|
rs148499825 | 205 | S>G | No |
ESP ExAC TOPMed gnomAD |
|
rs1426748283 | 205 | S>N | No |
TOPMed gnomAD |
|
rs148499825 | 205 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
rs2128716887 | 206 | S>L | No | Ensembl | |
rs1052820169 | 207 | S>G | No |
TOPMed gnomAD |
|
rs1052820169 | 207 | S>R | No |
TOPMed gnomAD |
|
rs2128716867 TCGA novel |
208 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs755751748 | 209 | D>G | No |
ExAC TOPMed gnomAD |
|
rs777419401 | 209 | D>H | No |
ExAC TOPMed gnomAD |
|
rs777419401 | 209 | D>N | No |
ExAC TOPMed gnomAD |
|
rs1691833635 | 210 | T>A | No | Ensembl | |
rs2128716827 | 211 | V>M | No | Ensembl | |
rs372381027 | 212 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
rs372381027 | 212 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs868334441 | 214 | S>N | No |
TOPMed gnomAD |
|
rs868334441 | 214 | S>T | No |
TOPMed gnomAD |
|
rs1200269574 | 216 | D>N | No | gnomAD | |
rs752174345 | 217 | P>L | No |
ExAC TOPMed gnomAD |
|
rs752174345 | 217 | P>Q | No |
ExAC TOPMed gnomAD |
|
rs142201886 | 217 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
rs1773545679 | 218 | P>L | No | gnomAD | |
rs766551627 | 218 | P>S | No |
ExAC gnomAD |
|
rs763066523 | 219 | Q>* | No |
ExAC gnomAD |
|
rs773199682 | 219 | Q>R | No |
ExAC TOPMed gnomAD |
|
rs2128716742 | 220 | F>S | No | Ensembl | |
rs2128716732 | 221 | P>S | No | Ensembl | |
rs2128716720 | 222 | G>C | No | Ensembl | |
rs1773543979 | 222 | G>D | No | Ensembl | |
rs1240410063 | 223 | G>E | No | gnomAD | |
rs2128716710 | 223 | G>R | No | Ensembl | |
rs771923036 | 224 | P>H | No |
ExAC gnomAD |
|
rs771923036 | 224 | P>L | No |
ExAC gnomAD |
|
rs55959124 RCV000879585 VAR_041444 |
224 | P>S | No |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs770860620 | 226 | L>S | No |
ExAC gnomAD |
|
rs770860620 | 226 | L>W | No |
ExAC gnomAD |
|
rs1459152647 | 227 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs2128716667 RCV001728070 |
227 | G>S | No |
ClinVar Ensembl dbSNP |
|
rs1253255306 | 228 | Y>C | No | Ensembl | |
rs1773541562 | 228 | Y>H | No | Ensembl | |
rs747824037 | 229 | N>K | No |
ExAC gnomAD |
|
rs970148457 | 230 | L>S | No |
TOPMed gnomAD |
|
rs2128716623 | 231 | R>M | No | Ensembl | |
rs2128716627 | 231 | R>W | No | Ensembl | |
rs137969966 | 233 | I>N | No |
ESP ExAC TOPMed gnomAD |
|
rs939993004 | 234 | S>G | No | Ensembl | |
rs1773539651 | 234 | S>I | No | gnomAD | |
rs1773539651 | 234 | S>N | No | gnomAD | |
rs939993004 | 234 | S>R | No | Ensembl | |
rs1773539351 | 235 | K>R | No | gnomAD | |
rs1773539351 | 235 | K>T | No | gnomAD | |
COSM3619910 rs747794595 COSM3619911 |
237 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs747794595 | 237 | Q>E | No |
ExAC TOPMed gnomAD |
|
rs781612376 | 237 | Q>H | No | ExAC | |
rs747794595 | 237 | Q>K | No |
ExAC TOPMed gnomAD |
|
rs1773538215 | 239 | L>F | No | TOPMed | |
rs751983911 | 240 | D>H | No |
ExAC TOPMed gnomAD |
|
rs780637099 | 240 | D>V | No |
ExAC gnomAD |
|
rs751983911 | 240 | D>Y | No |
ExAC TOPMed gnomAD |
|
rs554606784 | 241 | A>S | No |
1000Genomes ExAC gnomAD |
|
rs554606784 | 241 | A>T | No |
1000Genomes ExAC gnomAD |
|
rs750496946 | 242 | G>E | No | ExAC | |
rs765277219 | 243 | T>A | No |
ExAC gnomAD |
|
COSM3366272 COSM3366271 |
243 | T>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1773535955 | 244 | Q>* | No | TOPMed | |
rs1204481074 | 244 | Q>P | No | gnomAD | |
COSM4865309 COSM1072629 |
245 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs754066414 | 246 | T>I | No |
ExAC TOPMed gnomAD |
|
rs759261834 | 248 | F>Y | No |
ExAC gnomAD |
|
rs1674306855 | 249 | Q>E | No |
TOPMed gnomAD |
|
COSM4864701 COSM1072626 |
250 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs774163740 | 251 | Y>H | No |
ExAC gnomAD |
|
rs150306025 | 252 | S>A | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 252 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs150306025 | 252 | S>T | No |
ESP ExAC TOPMed gnomAD |
|
rs955421054 | 253 | T>A | No | TOPMed | |
rs955421054 | 253 | T>S | No | TOPMed | |
rs772747487 | 254 | L>F | No |
ExAC gnomAD |
|
rs1337789269 | 255 | P>S | No |
TOPMed gnomAD |
|
rs372009449 | 258 | I>M | No |
ESP ExAC TOPMed gnomAD |
|
rs921368375 | 258 | I>V | No |
TOPMed gnomAD |
|
rs1403866070 | 259 | Y>C | No | gnomAD | |
rs1773532310 | 259 | Y>N | No | gnomAD | |
rs1156495510 | 260 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1337780875 | 262 | S>P | No | gnomAD | |
rs1269992033 | 263 | I>L | No |
TOPMed gnomAD |
|
rs1269992033 | 263 | I>V | No |
TOPMed gnomAD |
|
rs2128715573 | 264 | A>T | No | Ensembl | |
rs1773476999 | 264 | A>V | No | gnomAD | |
rs746701860 | 265 | A>G | No |
ExAC TOPMed gnomAD |
|
rs1562361642 | 265 | A>T | No | Ensembl | |
rs746701860 | 265 | A>V | No |
ExAC TOPMed gnomAD |
|
rs1340735325 | 267 | N>D | No |
TOPMed gnomAD |
|
rs780565452 | 267 | N>T | No |
ExAC TOPMed gnomAD |
|
rs886999412 | 270 | G>A | No | gnomAD | |
rs886999412 | 270 | G>D | No | gnomAD | |
rs2128715507 | 272 | G>C | No | Ensembl | |
rs2128715498 | 272 | G>D | No | Ensembl | |
rs370121653 | 273 | P>A | No |
ESP TOPMed |
|
rs370121653 | 273 | P>S | No |
ESP TOPMed |
|
TCGA novel | 273 | P>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs2128715469 | 274 | E>G | No | Ensembl | |
TCGA novel | 274 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1562361544 | 275 | A>T | No | Ensembl | |
rs1773473726 | 276 | E>* | No | TOPMed | |
rs1773473229 | 277 | S>F | No | gnomAD | |
rs1773473508 | 277 | S>T | No | Ensembl | |
rs1773473229 | 277 | S>Y | No | gnomAD | |
rs899835248 | 278 | S>G | No |
TOPMed gnomAD |
|
rs775196449 | 279 | I>T | No | Ensembl | |
rs1773471962 | 282 | S>L | No | TOPMed | |
rs113942409 | 282 | S>P | No | Ensembl | |
rs1426025238 | 283 | S>F | No | gnomAD | |
rs1426025238 | 283 | S>Y | No | gnomAD | |
rs2128715377 | 285 | A>P | No | Ensembl | |
rs1773471237 | 285 | A>V | No | gnomAD | |
rs1322402703 | 286 | V>A | No |
TOPMed gnomAD |
|
rs542417250 | 286 | V>F | No |
1000Genomes ExAC gnomAD |
|
rs542417250 | 286 | V>I | No |
1000Genomes ExAC gnomAD |
|
rs1773357325 | 287 | Q>E | No |
TOPMed gnomAD |
|
rs1773357083 | 287 | Q>L | No | Ensembl | |
rs2128713681 | 289 | E>V | No | Ensembl | |
rs371206741 | 290 | E>* | No |
ESP ExAC TOPMed gnomAD |
|
rs371206741 | 290 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
rs371206741 | 290 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs189516374 | 291 | Q>* | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs189516374 | 291 | Q>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs989723092 | 291 | Q>P | No |
TOPMed gnomAD |
|
TCGA novel rs989723092 |
291 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1378760239 | 292 | W>* | No | gnomAD | |
rs1378760239 | 292 | W>C | No | gnomAD | |
rs868473694 | 293 | L>F | No | gnomAD | |
rs755256160 | 294 | F>L | No |
ExAC gnomAD |
|
rs1773353857 | 296 | S>F | No | TOPMed | |
rs2128713622 | 297 | R>I | No | Ensembl | |
TCGA novel | 298 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs757140194 | 299 | T>I | No |
ExAC gnomAD |
|
rs201937922 | 300 | S>A | No |
ExAC TOPMed gnomAD |
|
rs201937922 | 300 | S>P | No |
ExAC TOPMed gnomAD |
|
rs1183336300 | 300 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
TCGA novel | 302 | R>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs775172177 | 303 | K>R | No |
ExAC gnomAD |
|
COSM4866945 COSM1072623 |
304 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1211839682 | 304 | R>S | No | gnomAD | |
TCGA novel | 305 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs767029887 | 306 | L>* | No |
ExAC gnomAD |
|
rs1420516084 | 306 | L>F | No |
TOPMed gnomAD |
|
rs2128713552 | 309 | L>V | No | Ensembl | |
rs1773350089 | 311 | D>E | No | Ensembl | |
COSM4947904 COSM1440105 |
312 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs957712386 | 313 | A>T | No | TOPMed | |
rs140108938 | 314 | H>L | No |
ESP ExAC TOPMed gnomAD |
|
rs140108938 | 314 | H>R | No |
ESP ExAC TOPMed gnomAD |
|
rs773650993 | 317 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
COSM136563 COSM1739214 rs200113895 |
317 | R>W | NS skin [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs1025021082 | 318 | L>M | No |
TOPMed gnomAD |
|
rs1012331801 | 319 | D>G | No |
TOPMed gnomAD |
|
rs1773347942 | 319 | D>N | No | Ensembl | |
rs1012331801 | 319 | D>V | No |
TOPMed gnomAD |
|
rs1773346851 | 320 | A>D | No | Ensembl | |
rs148185831 | 320 | A>P | No |
ESP ExAC TOPMed gnomAD |
|
rs148185831 | 320 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
rs781352657 | 321 | I>M | No |
ExAC gnomAD |
|
rs1421644123 | 321 | I>V | No | gnomAD | |
rs146159167 | 323 | H>N | No |
ESP ExAC TOPMed gnomAD |
|
rs551116874 | 323 | H>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs753691208 | 325 | I>T | No |
ExAC TOPMed gnomAD |
|
rs756144218 | 326 | T>R | No |
ExAC TOPMed gnomAD |
|
rs2128713040 | 327 | G>A | No | Ensembl | |
COSM3619908 COSM3619909 |
327 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs772455106 | 331 | D>G | No |
ExAC TOPMed gnomAD |
|
rs772455106 | 331 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1773316770 | 333 | H>Y | No | Ensembl | |
rs2128713018 | 334 | Q>* | No | Ensembl | |
rs1773316499 | 334 | Q>H | No | gnomAD | |
rs1220701751 | 335 | Q>* | No | gnomAD | |
rs1220701751 | 335 | Q>K | No | gnomAD | |
rs749044063 | 337 | V>F | No |
ExAC TOPMed gnomAD |
|
rs749044063 | 337 | V>I | No |
ExAC TOPMed gnomAD |
|
COSM6172031 COSM6172030 |
337 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs55707658 VAR_041445 |
338 | Y>C | No |
UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1773315200 | 340 | S>F | No | Ensembl | |
rs756089152 | 340 | S>P | No |
ExAC TOPMed gnomAD |
|
rs2128712983 | 341 | E>* | No | Ensembl | |
rs752745358 | 341 | E>D | No |
ExAC gnomAD |
|
rs1773314733 | 343 | T>I | No | TOPMed | |
rs1297010018 | 344 | L>V | No | gnomAD | |
rs2128712967 | 346 | W>* | No | Ensembl | |
COSM364048 rs2128712961 COSM364047 |
346 | W>C | lung [Cosmic] | No |
cosmic curated Ensembl |
COSM3157902 COSM3157901 rs780553416 |
347 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs1218175401 | 348 | K>E | No |
TOPMed gnomAD |
|
rs2128712948 | 348 | K>N | No | Ensembl | |
rs751035291 | 349 | K>* | No |
ExAC TOPMed gnomAD |
|
rs751035291 | 349 | K>E | No |
ExAC TOPMed gnomAD |
|
rs765972514 | 350 | A>P | No |
ExAC gnomAD |
|
COSM1440103 COSM4783946 |
350 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs765972514 | 350 | A>T | No |
ExAC gnomAD |
|
rs2128712924 | 351 | A>S | No | Ensembl | |
rs1426852418 | 351 | A>V | No | gnomAD | |
rs1773312511 | 352 | N>I | No | Ensembl | |
rs1197516016 | 352 | N>K | No | gnomAD | |
rs376663875 | 353 | M>I | No |
ESP ExAC TOPMed |
|
rs1026474078 | 353 | M>R | No | Ensembl | |
rs1026474078 | 353 | M>T | No | Ensembl | |
rs1773311321 | 354 | S>T | No | TOPMed | |
TCGA novel | 354 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2128712871 | 355 | D>N | No | Ensembl | |
rs1773310568 | 356 | V>I | No | TOPMed | |
rs1773310568 | 356 | V>L | No | TOPMed | |
rs1773310064 | 357 | S>C | No | Ensembl | |
rs1175443727 | 359 | L>M | No | gnomAD | |
rs2128712835 | 359 | L>P | No | Ensembl | |
rs769599473 COSM1072618 COSM1072620 COSM1672712 |
360 | R>I | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs1238577631 | 361 | I>S | No | gnomAD | |
rs1238577631 | 361 | I>T | No | gnomAD | |
rs1773308549 | 362 | F>L | No | Ensembl | |
rs1562358765 | 363 | Y>F | No | gnomAD | |
COSM294782 rs1392239785 |
363 | Y>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
RCV002248663 CA3975659 rs61743088 RCV000454139 RCV003424002 |
365 | G>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs61743088 | 365 | G>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs373813252 | 365 | G>S | No |
ESP ExAC TOPMed |
|
rs2128712760 | 367 | G>R | No | Ensembl | |
COSM3920645 COSM3920644 |
368 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3697473 COSM3697472 VAR_041446 rs56274823 |
370 | S>P | large_intestine [Cosmic] | No |
cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
COSM4947028 COSM76281 rs957763915 |
370 | S>Y | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs1773306049 | 371 | S>P | No | TOPMed | |
rs772402190 | 372 | I>F | No |
ExAC gnomAD |
|
rs1376184246 | 372 | I>S | No | Ensembl | |
rs772402190 | 372 | I>V | No |
ExAC gnomAD |
|
rs2128712716 | 373 | S>F | No | Ensembl | |
rs1582835479 | 374 | I>K | No | Ensembl | |
rs923637371 | 374 | I>L | No | TOPMed | |
rs746135095 | 375 | D>E | No |
ExAC TOPMed gnomAD |
|
COSM5744897 COSM5744898 |
375 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs773134065 | 376 | W>R | No |
1000Genomes ExAC gnomAD |
|
rs1378031096 | 377 | L>F | No |
TOPMed gnomAD |
|
rs1378031096 | 377 | L>V | No |
TOPMed gnomAD |
|
rs781116397 | 378 | Y>* | No |
ExAC gnomAD |
|
rs1773303300 | 378 | Y>F | No | Ensembl | |
rs369960949 | 378 | Y>H | No |
ESP ExAC TOPMed gnomAD |
|
rs1403417515 | 379 | Q>E | No |
TOPMed gnomAD |
|
rs1403417515 | 379 | Q>K | No |
TOPMed gnomAD |
|
rs1466068877 COSM202100 COSM202101 |
380 | R>I | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA TOPMed gnomAD |
rs1466068877 | 380 | R>T | No |
TOPMed gnomAD |
|
rs1216078562 | 381 | M>T | No |
TOPMed gnomAD |
|
rs1773300662 | 382 | Y>* | No | TOPMed | |
rs746475409 | 382 | Y>C | No |
ExAC gnomAD |
|
rs145259410 | 382 | Y>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs936476170 | 383 | F>V | No | Ensembl | |
COSM1647861 COSM739464 |
384 | I>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2128712608 | 385 | M>I | No | Ensembl | |
TCGA novel | 385 | M>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs565037039 | 385 | M>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs758013138 | 386 | D>E | No |
ExAC gnomAD |
|
rs1190652673 | 386 | D>H | No |
TOPMed gnomAD |
|
rs750137132 | 387 | E>G | No |
ExAC gnomAD |
|
rs2128711133 | 389 | V>E | No | Ensembl | |
rs1360638449 | 389 | V>I | No |
TOPMed gnomAD |
|
rs1360638449 | 389 | V>L | No |
TOPMed gnomAD |
|
rs997358663 | 390 | C>R | No |
TOPMed gnomAD |
|
rs997358663 | 390 | C>S | No |
TOPMed gnomAD |
|
rs2128711118 | 390 | C>S | No | Ensembl | |
rs2128711109 | 391 | V>F | No | Ensembl | |
rs2128711109 | 391 | V>L | No | Ensembl | |
rs2128711098 | 392 | C>R | No | Ensembl | |
rs2128711092 | 392 | C>S | No | Ensembl | |
rs1163617062 | 393 | D>E | No | gnomAD | |
rs768400134 | 393 | D>H | No |
ExAC TOPMed gnomAD |
|
rs768400134 | 393 | D>N | No |
ExAC TOPMed gnomAD |
|
rs768400134 | 393 | D>Y | No |
ExAC TOPMed gnomAD |
|
rs2128711070 | 394 | L>* | No | Ensembl | |
rs2128711065 | 394 | L>F | No | Ensembl | |
rs2128711074 | 394 | L>I | No | Ensembl | |
rs2128711054 | 395 | E>* | No | Ensembl | |
COSM1072615 COSM1072617 rs2128711045 COSM4865754 |
395 | E>D | endometrium Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated Ensembl NCI-TCGA Cosmic |
rs2128711054 | 395 | E>K | No | Ensembl | |
rs2128711054 | 395 | E>Q | No | Ensembl | |
rs2128711049 | 395 | E>V | No | Ensembl | |
rs2128711033 | 396 | N>I | No | Ensembl | |
rs2128711026 | 396 | N>K | No | Ensembl | |
rs2128711037 | 396 | N>Y | No | Ensembl | |
rs1459296351 | 397 | C>S | No | gnomAD | |
rs2128711020 | 397 | C>S | No | Ensembl | |
rs2128711000 | 397 | C>W | No | Ensembl | |
rs1459296351 | 397 | C>Y | No | gnomAD | |
rs2128710983 COSM126912 |
398 | S>* | upper_aerodigestive_tract [Cosmic] | No |
cosmic curated Ensembl |
rs2128710983 | 398 | S>L | No | Ensembl | |
rs2128710993 | 398 | S>P | No | Ensembl | |
rs2128710993 | 398 | S>T | No | Ensembl | |
rs2128710965 | 399 | N>I | No | Ensembl | |
rs2128710950 | 399 | N>K | No | Ensembl | |
rs1371504833 | 400 | I>F | No |
TOPMed gnomAD |
|
rs1002056236 | 400 | I>M | No |
TOPMed gnomAD |
|
rs1371504833 | 400 | I>V | No |
TOPMed gnomAD |
|
rs775340905 | 401 | E>* | No |
ExAC TOPMed gnomAD |
|
rs2128710911 | 401 | E>D | No | Ensembl | |
rs1265449575 | 401 | E>G | No |
TOPMed gnomAD |
|
rs775340905 | 401 | E>K | No |
ExAC TOPMed gnomAD |
|
rs775340905 | 401 | E>Q | No |
ExAC TOPMed gnomAD |
|
rs1307627482 COSM1697839 COSM1697840 |
402 | E>K | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
rs1307627482 | 402 | E>Q | No | Ensembl | |
rs2128710897 | 403 | I>F | No | Ensembl | |
rs2128710891 | 403 | I>N | No | Ensembl | |
rs2128710897 | 403 | I>V | No | Ensembl | |
rs1582832402 | 404 | T>I | No | Ensembl | |
rs1197436960 | 404 | T>P | No | gnomAD | |
rs1197436960 | 404 | T>S | No | gnomAD | |
rs1582832402 | 404 | T>S | No | Ensembl | |
rs2128710858 | 405 | P>A | No | Ensembl | |
rs2128710847 | 405 | P>L | No | Ensembl | |
rs2128710858 | 405 | P>S | No | Ensembl | |
rs2128710858 | 405 | P>T | No | Ensembl | |
rs1048953715 | 406 | P>A | No | Ensembl | |
rs1199787368 | 406 | P>H | No |
TOPMed gnomAD |
|
rs1199787368 | 406 | P>L | No |
TOPMed gnomAD |
|
rs1199787368 | 406 | P>R | No |
TOPMed gnomAD |
|
rs1048953715 | 406 | P>S | No | Ensembl | |
rs1048953715 | 406 | P>T | No | Ensembl | |
rs1291270003 | 407 | S>C | No | gnomAD | |
rs1291270003 | 407 | S>F | No | gnomAD | |
rs1773213262 | 407 | S>P | No | Ensembl | |
rs1773213262 | 407 | S>T | No | Ensembl | |
rs1466737621 | 408 | I>F | No | Ensembl | |
rs2128710794 | 408 | I>N | No | Ensembl | |
rs1466737621 | 408 | I>V | No | Ensembl | |
rs1773212536 | 409 | S>C | No | Ensembl | |
rs1773212307 | 409 | S>R | No | TOPMed | |
rs2128710777 | 409 | S>T | No | Ensembl | |
rs2128710765 | 410 | A>G | No | Ensembl | |
rs745334216 | 410 | A>S | No |
ExAC gnomAD |
|
rs745334216 | 410 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs2128710765 | 410 | A>V | No | Ensembl | |
rs781629779 | 411 | P>A | No |
ExAC gnomAD |
|
rs2128710740 | 411 | P>H | No | Ensembl | |
rs2128710740 | 411 | P>L | No | Ensembl | |
rs781629779 | 411 | P>S | No |
ExAC gnomAD |
|
rs781629779 | 411 | P>T | No |
ExAC gnomAD |
|
rs2128710725 | 412 | Q>E | No | Ensembl | |
rs2128710711 | 414 | I>F | No | Ensembl | |
TCGA novel | 414 | I>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs770589705 | 414 | I>S | No |
ExAC TOPMed gnomAD |
|
rs770589705 | 414 | I>T | No |
ExAC TOPMed gnomAD |
|
rs2128710711 | 414 | I>V | No | Ensembl | |
rs2128710683 | 415 | V>E | No | Ensembl | |
rs2128710683 | 415 | V>G | No | Ensembl | |
rs2128710688 | 415 | V>L | No | Ensembl | |
rs2128710688 | 415 | V>M | No | Ensembl | |
rs1773210564 | 416 | A>P | No | TOPMed | |
rs1773210564 | 416 | A>S | No | TOPMed | |
rs1773210564 | 416 | A>T | No | TOPMed | |
rs1217639125 | 416 | A>V | No | gnomAD | |
rs767322079 | 417 | D>E | No | Ensembl | |
rs748963951 | 417 | D>G | No |
ExAC gnomAD |
|
rs2128710632 | 417 | D>H | No | Ensembl | |
rs2128710632 | 417 | D>N | No | Ensembl | |
rs2128710604 | 418 | S>* | No | Ensembl | |
rs2128710604 | 418 | S>L | No | Ensembl | |
rs2128710610 | 418 | S>T | No | Ensembl | |
rs2128710575 | 419 | Y>* | No | Ensembl | |
rs1279524577 COSM1440096 COSM1440097 |
419 | Y>C | large_intestine [Cosmic] | No |
cosmic curated TOPMed gnomAD |
COSM1642836 COSM1642835 VAR_041447 COSM20591 rs1444274116 |
419 | Y>H | stomach a gastric adenocarcinoma sample; somatic mutation [Cosmic, UniProt] | No |
cosmic curated UniProt TOPMed dbSNP gnomAD |
rs1444274116 | 419 | Y>N | No |
TOPMed gnomAD |
|
rs2128710560 | 420 | N>K | No | Ensembl | |
rs1433758459 | 420 | N>S | No | gnomAD | |
rs778189552 | 421 | G>A | No |
ExAC gnomAD |
|
rs778189552 | 421 | G>E | No |
ExAC gnomAD |
|
rs1773208837 | 421 | G>R | No | Ensembl | |
rs778189552 | 421 | G>V | No |
ExAC gnomAD |
|
rs1773208837 COSM1672710 COSM1672711 |
421 | G>W | lung [Cosmic] | No |
cosmic curated Ensembl |
rs1239577422 | 422 | Y>C | No |
TOPMed gnomAD |
|
rs1459389274 | 422 | Y>D | No |
TOPMed gnomAD |
|
rs1459389274 | 422 | Y>H | No |
TOPMed gnomAD |
|
rs752178140 | 423 | V>A | No |
ExAC TOPMed gnomAD |
|
rs752178140 | 423 | V>D | No |
ExAC TOPMed gnomAD |
|
rs1255187618 | 423 | V>I | No |
TOPMed gnomAD |
|
rs867465351 | 425 | Y>C | No | gnomAD | |
rs1270487763 | 426 | L>F | No |
TOPMed gnomAD |
|
rs1270487763 | 426 | L>V | No |
TOPMed gnomAD |
|
COSM4785356 COSM1440095 |
428 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 432 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1205023293 | 433 | R>I | No | TOPMed | |
rs758345543 | 433 | R>S | No |
ExAC TOPMed gnomAD |
|
rs2128705483 | 434 | A>E | No | Ensembl | |
rs2128705483 | 434 | A>V | No | Ensembl | |
rs1582823740 | 435 | D>A | No | Ensembl | |
rs1772909704 | 435 | D>H | No | Ensembl | |
rs2128705461 | 436 | L>F | No | Ensembl | |
rs2128705457 COSM1697837 COSM1697838 |
437 | P>L | skin [Cosmic] | No |
cosmic curated Ensembl |
rs2128705445 | 438 | V>I | No | Ensembl | |
rs1447587100 | 439 | P>Q | No | gnomAD | |
rs1447587100 | 439 | P>R | No | gnomAD | |
rs2128705440 | 439 | P>S | No | Ensembl | |
COSM141179 rs1582823688 |
440 | S>F | upper_aerodigestive_tract [Cosmic] | No |
cosmic curated Ensembl |
rs1772908692 | 440 | S>P | No | TOPMed | |
rs762072029 | 441 | G>A | No |
ExAC gnomAD |
|
rs762072029 | 441 | G>V | No |
ExAC gnomAD |
|
rs767371570 | 442 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs139256509 | 442 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1287758562 | 443 | C>F | No |
TOPMed gnomAD |
|
rs1287758562 | 443 | C>Y | No |
TOPMed gnomAD |
|
rs2128705374 | 444 | A>S | No | Ensembl | |
rs1225522207 | 444 | A>V | No | gnomAD | |
rs267600781 | 445 | E>K | No | Ensembl | |
rs759459909 | 446 | A>S | No |
ExAC TOPMed gnomAD |
|
rs2128705355 | 446 | A>V | No | Ensembl | |
rs1772905218 | 447 | V>M | No | TOPMed | |
rs766342599 | 448 | R>C | No |
ExAC TOPMed gnomAD |
|
COSM3857813 COSM3857814 rs766342599 |
448 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC TOPMed gnomAD |
rs374934137 | 448 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA gnomAD |
rs769545143 | 449 | I>T | No |
ExAC TOPMed gnomAD |
|
rs772798392 | 449 | I>V | No |
ExAC TOPMed gnomAD |
|
rs2128705312 | 451 | E>* | No | Ensembl | |
rs536309296 | 451 | E>V | No | 1000Genomes | |
rs1365333105 | 452 | S>G | No |
TOPMed gnomAD |
|
rs777130376 | 452 | S>N | No |
ExAC TOPMed gnomAD |
|
rs747412076 | 453 | C>* | No |
ExAC TOPMed gnomAD |
|
rs769199680 | 453 | C>G | No |
ExAC gnomAD |
|
rs2128705276 | 453 | C>Y | No | Ensembl | |
rs1305515541 | 454 | T>A | No |
TOPMed gnomAD |
|
rs780387866 | 454 | T>M | No |
ExAC TOPMed gnomAD |
|
rs2128705244 | 456 | K>N | No | Ensembl | |
rs1380119686 | 457 | D>G | No | gnomAD | |
rs779093341 | 459 | A>E | No |
ExAC gnomAD |
|
rs779093341 | 459 | A>G | No |
ExAC gnomAD |
|
rs41291920 | 459 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs41291920 | 459 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs779093341 | 459 | A>V | No |
ExAC gnomAD |
|
rs200988886 | 460 | I>M | No |
ExAC TOPMed gnomAD |
|
rs754120533 | 460 | I>N | No |
ExAC gnomAD |
|
rs754120533 | 460 | I>T | No |
ExAC gnomAD |
|
rs1446220228 | 460 | I>V | No | Ensembl | |
RCV000972430 rs61729671 |
461 | K>E | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs766174223 | 462 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs751398495 | 462 | P>S | No |
ExAC gnomAD |
|
rs751398495 | 462 | P>T | No |
ExAC gnomAD |
|
rs986620798 | 463 | Q>* | No |
TOPMed gnomAD |
|
rs986620798 | 463 | Q>K | No |
TOPMed gnomAD |
|
rs1189662520 | 463 | Q>R | No |
TOPMed gnomAD |
|
rs1476515066 | 464 | A>S | No |
TOPMed gnomAD |
|
rs1476515066 | 464 | A>T | No |
TOPMed gnomAD |
|
rs762992489 | 465 | K>T | No |
ExAC gnomAD |
|
rs370199384 | 466 | R>* | No |
ESP ExAC TOPMed gnomAD |
|
COSM1072614 rs140178288 COSM4393980 COSM1072612 |
466 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs768456216 | 467 | I>T | No |
ExAC gnomAD |
|
COSM3619907 COSM3619906 |
468 | I>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1772894906 | 468 | I>N | No | Ensembl | |
rs1292213271 | 469 | Y>C | No | gnomAD | |
rs2128705105 TCGA novel |
470 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs747288191 | 471 | N>I | No |
ExAC TOPMed gnomAD |
|
rs747288191 | 471 | N>S | No |
ExAC TOPMed gnomAD |
|
rs747288191 | 471 | N>T | No |
ExAC TOPMed gnomAD |
|
rs775973005 | 472 | D>G | No |
ExAC TOPMed gnomAD |
|
rs2128705083 | 472 | D>H | No | Ensembl | |
rs2128705083 | 472 | D>Y | No | Ensembl | |
rs1772892852 | 473 | T>A | No | Ensembl | |
rs2128705062 | 473 | T>I | No | Ensembl | |
rs2128705051 | 474 | A>S | No | Ensembl | |
rs2128705051 | 474 | A>T | No | Ensembl | |
rs2128705043 | 474 | A>V | No | Ensembl | |
rs1384775761 | 475 | Q>E | No | TOPMed | |
rs1384775761 | 475 | Q>K | No | TOPMed | |
TCGA novel | 475 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1772892350 | 476 | V>F | No | Ensembl | |
rs574409648 | 476 | V>G | No |
TOPMed gnomAD |
|
rs1772892350 | 476 | V>I | No | Ensembl | |
rs550021694 | 477 | F>L | No |
1000Genomes gnomAD |
|
rs199884555 | 478 | M>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1772891224 | 479 | S>A | No | TOPMed | |
TCGA novel | 479 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs778955018 | 480 | T>I | No |
ExAC gnomAD |
|
rs746458448 | 480 | T>S | No |
ExAC TOPMed gnomAD |
|
rs757273336 | 482 | L>M | No |
ExAC gnomAD |
|
rs894014003 | 483 | D>G | No | Ensembl | |
rs2128704971 | 483 | D>H | No | Ensembl | |
rs2128704971 | 483 | D>N | No | Ensembl | |
rs894014003 | 483 | D>V | No | Ensembl | |
rs1772889433 | 484 | G>D | No | Ensembl | |
rs1772889433 | 484 | G>V | No | Ensembl | |
rs1772888531 | 485 | S>C | No | Ensembl | |
rs1772888531 | 485 | S>F | No | Ensembl | |
rs1422557855 | 485 | S>P | No |
TOPMed gnomAD |
|
rs1772887946 | 486 | A>P | No | gnomAD | |
rs1772887946 | 486 | A>S | No | gnomAD | |
rs1772887946 | 486 | A>T | No | gnomAD | |
rs749377024 | 486 | A>V | No |
ExAC TOPMed gnomAD |
|
rs2128704908 | 487 | S>F | No | Ensembl | |
rs1772886917 | 488 | H>Q | No | Ensembl | |
rs777928809 | 488 | H>R | No |
ExAC TOPMed gnomAD |
|
rs1772887445 | 488 | H>Y | No | Ensembl | |
rs2128704876 | 489 | L>F | No | Ensembl | |
rs1190556321 | 489 | L>P | No | gnomAD | |
rs1772886439 | 491 | L>P | No | TOPMed | |
rs2128704838 | 492 | P>L | No | Ensembl | |
rs2128704845 | 492 | P>S | No | Ensembl | |
COSM3619905 COSM3619904 rs756348072 |
493 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs146130970 | 493 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs146130970 | 493 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs756348072 | 493 | R>S | No |
ExAC TOPMed gnomAD |
|
rs1380069762 | 494 | I>L | No | TOPMed | |
rs2128704811 | 494 | I>N | No | Ensembl | |
rs766232395 | 495 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs766232395 | 495 | P>R | No |
ExAC TOPMed gnomAD |
|
rs2128704803 | 495 | P>S | No | Ensembl | |
rs981528087 | 496 | F>L | No |
TOPMed gnomAD |
|
rs2128704783 | 497 | A>V | No | Ensembl | |
rs758263799 | 498 | D>G | No |
ExAC gnomAD |
|
rs2128704777 | 498 | D>N | No | Ensembl | |
rs2128704777 | 498 | D>Y | No | Ensembl | |
rs2128704769 | 499 | V>L | No | Ensembl | |
rs1772883690 | 500 | K>N | No | TOPMed | |
rs1772883967 | 500 | K>T | No | Ensembl | |
rs1310552526 | 501 | S>N | No | gnomAD | |
rs1301103592 | 502 | F>C | No | gnomAD | |
rs142940626 | 503 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1772882819 | 503 | A>V | No | Ensembl | |
rs2128704730 | 505 | E>K | No | Ensembl | |
rs2128704727 | 506 | N>K | No | Ensembl | |
rs1203305316 | 507 | N>D | No | gnomAD | |
rs761338135 | 507 | N>I | No |
ExAC gnomAD |
|
rs763818587 | 508 | D>E | No |
ExAC gnomAD |
|
rs1772881276 | 508 | D>G | No | TOPMed | |
rs1399068165 | 508 | D>H | No | gnomAD | |
rs1463033775 | 509 | F>L | No |
TOPMed gnomAD |
|
rs1375443218 | 510 | L>F | No | gnomAD | |
rs2128704680 COSM1647864 COSM739470 COSM739469 |
512 | T>S | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
rs1466317364 | 513 | D>E | No |
TOPMed gnomAD |
|
rs775717825 | 513 | D>G | No |
ExAC gnomAD |
|
rs2128704673 | 513 | D>Y | No | Ensembl | |
rs1772879507 | 514 | G>D | No | Ensembl | |
rs2128704655 | 514 | G>S | No | Ensembl | |
rs201527593 | 515 | K>R | No | Ensembl | |
rs2128704631 | 516 | V>I | No | Ensembl | |
rs2128704631 | 516 | V>L | No | Ensembl | |
rs1396856660 | 517 | I>V | No | gnomAD | |
rs2128704608 | 520 | Q>* | No | Ensembl | |
rs2128704601 | 520 | Q>H | No | Ensembl | |
rs2128704597 | 521 | D>N | No | Ensembl | |
rs1457175155 | 521 | D>V | No | gnomAD | |
rs1772877369 | 522 | A>V | No | TOPMed | |
rs774776316 | 524 | S>C | No |
ExAC gnomAD |
|
rs1772877142 | 524 | S>T | No | TOPMed | |
rs771457051 | 526 | N>I | No |
ExAC TOPMed gnomAD |
|
rs771457051 | 526 | N>S | No |
ExAC TOPMed gnomAD |
|
rs2128704578 | 526 | N>Y | No | Ensembl | |
rs1766824259 | 527 | E>* | No | Ensembl | |
rs749314336 | 527 | E>A | No |
ExAC gnomAD |
|
rs1766824259 COSM3619901 COSM1440092 COSM1440093 |
527 | E>K | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic Ensembl |
rs1766824259 | 527 | E>Q | No | Ensembl | |
rs749314336 | 527 | E>V | No |
ExAC gnomAD |
|
rs2128704524 | 528 | F>L | No | Ensembl | |
rs1772875855 | 529 | I>F | No | gnomAD | |
rs527529345 | 529 | I>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1772875855 | 529 | I>V | No | gnomAD | |
rs878999513 | 530 | V>L | No | Ensembl | |
rs878999513 | 530 | V>M | No | Ensembl | |
rs1442991049 | 531 | G>* | No |
TOPMed gnomAD |
|
rs1234135807 | 531 | G>E | No | gnomAD | |
rs1442991049 | 531 | G>R | No |
TOPMed gnomAD |
|
rs1234135807 | 531 | G>V | No | gnomAD | |
rs2128704477 | 532 | C>* | No | Ensembl | |
rs2128704481 | 532 | C>S | No | Ensembl | |
rs2128704477 | 532 | C>W | No | Ensembl | |
rs2128704481 | 532 | C>Y | No | Ensembl | |
rs2128704466 | 533 | D>E | No | Ensembl | |
rs2128704473 | 533 | D>H | No | Ensembl | |
rs2128704470 | 533 | D>V | No | Ensembl | |
rs2128704473 | 533 | D>Y | No | Ensembl | |
rs748468509 | 534 | L>M | No |
ExAC TOPMed |
|
rs2128704455 | 534 | L>P | No | Ensembl | |
rs748468509 | 534 | L>V | No |
ExAC TOPMed |
|
rs779701008 | 535 | S>C | No |
ExAC gnomAD |
|
rs779701008 | 535 | S>G | No |
ExAC gnomAD |
|
rs2128704427 | 535 | S>I | No | Ensembl | |
TCGA novel | 535 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2128704421 | 535 | S>R | No | Ensembl | |
rs779701008 | 535 | S>R | No |
ExAC gnomAD |
|
rs2128704414 | 536 | H>D | No | Ensembl | |
rs2128704407 | 536 | H>L | No | Ensembl | |
rs2128704403 | 536 | H>Q | No | Ensembl | |
rs2128704407 | 536 | H>R | No | Ensembl | |
rs2128704414 | 536 | H>Y | No | Ensembl | |
rs28639589 VAR_041448 |
537 | I>M | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1378148607 | 537 | I>T | No | gnomAD | |
rs758152077 | 537 | I>V | No |
ExAC gnomAD |
|
rs757314497 | 538 | E>A | No |
ExAC TOPMed gnomAD |
|
TCGA novel rs2128704369 |
538 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs778946604 | 538 | E>Q | No |
ExAC TOPMed gnomAD |
|
COSM4864797 COSM1072611 rs1772873017 COSM1072609 |
539 | E>* | Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic Ensembl |
rs2128704348 | 539 | E>D | No | Ensembl | |
rs1772873017 | 539 | E>K | No | Ensembl | |
rs1772873017 | 539 | E>Q | No | Ensembl | |
rs1466151077 | 540 | F>L | No | gnomAD | |
rs1301719041 | 540 | F>S | No | gnomAD | |
rs753367494 | 541 | G>A | No |
ExAC TOPMed gnomAD |
|
rs753367494 | 541 | G>E | No |
ExAC TOPMed gnomAD |
|
rs753367494 | 541 | G>V | No |
ExAC TOPMed gnomAD |
|
rs760234329 | 543 | G>A | No |
ExAC TOPMed gnomAD |
|
rs763765128 | 543 | G>C | No |
ExAC TOPMed gnomAD |
|
rs760234329 | 543 | G>D | No |
ExAC TOPMed gnomAD |
|
rs763765128 | 543 | G>R | No |
ExAC TOPMed gnomAD |
|
rs763765128 | 543 | G>S | No |
ExAC TOPMed gnomAD |
|
rs760234329 | 543 | G>V | No |
ExAC TOPMed gnomAD |
|
rs752340723 | 544 | N>S | No |
ExAC gnomAD |
|
rs2128704295 | 545 | L>F | No | Ensembl | |
rs991227380 | 545 | L>S | No | Ensembl | |
rs767083171 | 546 | V>A | No |
ExAC TOPMed gnomAD |
|
rs767083171 | 546 | V>D | No |
ExAC TOPMed gnomAD |
|
rs2128704286 | 546 | V>F | No | Ensembl | |
rs2128704286 | 546 | V>I | No | Ensembl | |
rs2128704286 | 546 | V>L | No | Ensembl | |
rs1772869943 | 547 | I>F | No | TOPMed | |
rs149258740 | 547 | I>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2128704264 | 547 | I>T | No | Ensembl | |
rs1772869943 | 547 | I>V | No | TOPMed | |
rs2128704251 | 548 | F>I | No | Ensembl | |
rs762731566 | 548 | F>L | No |
ExAC TOPMed gnomAD |
|
rs556303105 | 548 | F>S | No | 1000Genomes | |
rs2128704228 | 549 | G>A | No | Ensembl | |
rs1298125194 | 549 | G>C | No | gnomAD | |
rs2128704228 | 549 | G>D | No | Ensembl | |
rs1298125194 | 549 | G>R | No | gnomAD | |
rs1298125194 | 549 | G>S | No | gnomAD | |
rs2128704228 | 549 | G>V | No | Ensembl | |
rs763487146 | 550 | S>* | No |
ExAC TOPMed gnomAD |
|
rs763487146 | 550 | S>L | No |
ExAC TOPMed gnomAD |
|
rs2128704214 | 550 | S>P | No | Ensembl | |
rs2128704214 | 550 | S>T | No | Ensembl | |
rs865940125 | 551 | S>C | No | Ensembl | |
rs865940125 COSM450403 COSM450404 COSM3157880 |
551 | S>F | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
rs2128704195 | 551 | S>P | No | Ensembl | |
rs773272241 | 552 | S>A | No |
ExAC gnomAD |
|
rs769974183 | 552 | S>C | No |
ExAC gnomAD |
|
rs769974183 | 552 | S>F | No |
ExAC gnomAD |
|
rs773272241 | 552 | S>P | No |
ExAC gnomAD |
|
rs748189554 | 553 | Q>* | No |
ExAC gnomAD |
|
rs748189554 | 553 | Q>E | No |
ExAC gnomAD |
|
rs2128704148 | 553 | Q>H | No | Ensembl | |
rs748189554 | 553 | Q>K | No |
ExAC gnomAD |
|
rs2128704156 | 553 | Q>L | No | Ensembl | |
rs2128704139 | 554 | L>M | No | Ensembl | |
rs2128704130 | 554 | L>P | No | Ensembl | |
rs2128704130 | 554 | L>Q | No | Ensembl | |
rs2128704139 | 554 | L>V | No | Ensembl | |
rs2128704120 | 555 | H>D | No | Ensembl | |
rs2128704110 | 555 | H>L | No | Ensembl | |
rs2128704110 | 555 | H>P | No | Ensembl | |
rs2128704104 | 555 | H>Q | No | Ensembl | |
rs2128704110 | 555 | H>R | No | Ensembl | |
rs2128704120 | 555 | H>Y | No | Ensembl | |
rs2128704099 | 556 | P>A | No | Ensembl | |
rs2128704087 | 556 | P>H | No | Ensembl | |
rs2128704087 | 556 | P>L | No | Ensembl | |
rs2128704087 | 556 | P>R | No | Ensembl | |
rs2128704099 | 556 | P>S | No | Ensembl | |
rs2128704075 TCGA novel |
557 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs2128704056 | 558 | P>A | No | Ensembl | |
rs2128704044 | 558 | P>L | No | Ensembl | |
rs2128704044 | 558 | P>R | No | Ensembl | |
rs2128704056 | 558 | P>S | No | Ensembl | |
rs2128704008 | 559 | G>A | No | Ensembl | |
rs2128704008 | 559 | G>D | No | Ensembl | |
rs2128704025 | 559 | G>R | No | Ensembl | |
rs2128704025 | 559 | G>S | No | Ensembl | |
rs2128704008 | 559 | G>V | No | Ensembl | |
COSM95211 rs768790336 |
560 | R>C | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs768790336 | 560 | R>G | No |
ExAC TOPMed gnomAD |
|
rs145765584 | 560 | R>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs145765584 | 560 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs145765584 | 560 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2128703960 | 561 | P>A | No | Ensembl | |
COSM421102 COSM4811787 COSM421101 rs199766618 |
561 | P>L | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs199766618 | 561 | P>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs199766618 | 561 | P>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2128703960 | 561 | P>S | No | Ensembl | |
rs2128703960 | 561 | P>T | No | Ensembl | |
rs2128703929 | 562 | Q>E | No | Ensembl | |
rs2128703911 | 562 | Q>H | No | Ensembl | |
rs2128703923 | 562 | Q>L | No | Ensembl | |
rs1772865085 | 563 | E>D | No | gnomAD | |
rs2128703885 | 563 | E>K | No | Ensembl | |
rs2128703885 | 563 | E>Q | No | Ensembl | |
rs2128703878 | 563 | E>V | No | Ensembl | |
rs1414828115 | 564 | L>F | No |
TOPMed gnomAD |
|
rs2128703842 | 564 | L>H | No | Ensembl | |
rs1414828115 | 564 | L>I | No |
TOPMed gnomAD |
|
rs2128703842 | 564 | L>P | No | Ensembl | |
rs1414828115 | 564 | L>V | No |
TOPMed gnomAD |
|
rs142303126 | 565 | S>L | No |
ESP ExAC TOPMed gnomAD |
|
rs142303126 | 565 | S>W | No |
ESP ExAC TOPMed gnomAD |
|
rs2128703809 | 566 | V>E | No | Ensembl | |
rs752182904 | 566 | V>L | No |
ExAC gnomAD |
|
rs752182904 | 566 | V>M | No |
ExAC gnomAD |
|
rs1772862569 | 567 | L>P | No | Ensembl | |
rs372925583 | 567 | L>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1262579913 | 568 | F>S | No |
TOPMed gnomAD |
|
rs1262579913 | 568 | F>Y | No |
TOPMed gnomAD |
|
rs2128703765 | 569 | G>A | No | Ensembl | |
rs2128703765 | 569 | G>D | No | Ensembl | |
rs2128703775 | 569 | G>S | No | Ensembl | |
rs2128703765 | 569 | G>V | No | Ensembl | |
rs751886816 | 570 | S>F | No |
ExAC gnomAD |
|
rs1011035461 | 570 | S>P | No |
TOPMed gnomAD |
|
rs1011035461 | 570 | S>T | No |
TOPMed gnomAD |
|
rs2128703729 | 571 | H>L | No | Ensembl | |
rs1052612678 | 571 | H>N | No | Ensembl | |
rs2128703724 | 571 | H>Q | No | Ensembl | |
rs1052612678 | 571 | H>Y | No | Ensembl | |
rs976221573 | 572 | Q>* | No |
TOPMed gnomAD |
|
rs2128703711 | 572 | Q>H | No | Ensembl | |
rs976221573 | 572 | Q>K | No |
TOPMed gnomAD |
|
rs2128703700 | 573 | A>P | No | Ensembl | |
rs2128703700 | 573 | A>S | No | Ensembl | |
rs2128703700 | 573 | A>T | No | Ensembl | |
rs2128703693 | 573 | A>V | No | Ensembl | |
rs2128703670 | 574 | L>H | No | Ensembl | |
rs2128703670 | 574 | L>P | No | Ensembl | |
rs2128703680 | 574 | L>V | No | Ensembl | |
rs2128703655 | 575 | V>D | No | Ensembl | |
rs2128703655 | 575 | V>G | No | Ensembl | |
rs2128703660 | 575 | V>I | No | Ensembl | |
rs2128703660 | 575 | V>L | No | Ensembl | |
COSM3157873 COSM3157872 rs2128703641 |
576 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs2128703641 | 576 | Q>E | No | Ensembl | |
rs2128703607 | 577 | W>* | No | Ensembl | |
rs2128703615 | 577 | W>* | No | Ensembl | |
rs2128703607 | 577 | W>C | No | Ensembl | |
rs1582821593 | 577 | W>G | No | Ensembl | |
rs2128703615 | 577 | W>L | No | Ensembl | |
rs1582821593 | 577 | W>R | No | Ensembl | |
rs2128703615 | 577 | W>S | No | Ensembl | |
rs2128703602 | 578 | K>* | No | Ensembl | |
rs2128703595 | 578 | K>N | No | Ensembl | |
rs1261108140 | 579 | P>A | No | gnomAD | |
rs2128703587 | 579 | P>L | No | Ensembl | |
rs1261108140 | 579 | P>S | No | gnomAD | |
rs1772858237 | 580 | P>A | No | Ensembl | |
rs2128703570 | 580 | P>L | No | Ensembl | |
rs1772858237 | 580 | P>S | No | Ensembl | |
rs267600780 | 581 | A>D | No |
TOPMed gnomAD |
|
rs773651108 | 581 | A>P | No |
ExAC gnomAD |
|
rs773651108 | 581 | A>S | No |
ExAC gnomAD |
|
rs773651108 | 581 | A>T | No |
ExAC gnomAD |
|
rs267600780 | 581 | A>V | No |
TOPMed gnomAD |
|
rs2128703550 | 582 | L>F | No | Ensembl | |
rs1582821484 | 582 | L>P | No | Ensembl | |
rs2128703550 | 582 | L>V | No | Ensembl | |
rs1264432555 | 583 | A>D | No | gnomAD | |
rs1264432555 | 583 | A>G | No | gnomAD | |
rs761911387 | 583 | A>P | No |
ExAC TOPMed gnomAD |
|
rs761911387 | 583 | A>S | No |
ExAC TOPMed gnomAD |
|
rs761911387 | 583 | A>T | No |
ExAC TOPMed gnomAD |
|
rs1264432555 | 583 | A>V | No | gnomAD | |
rs776624648 | 584 | I>K | No |
ExAC TOPMed gnomAD |
|
rs2128703511 | 584 | I>L | No | Ensembl | |
rs1772855734 | 585 | G>* | No | gnomAD | |
rs2128703495 | 585 | G>A | No | Ensembl | |
rs2128703495 | 585 | G>E | No | Ensembl | |
rs1772855734 | 585 | G>R | No | gnomAD | |
rs747302749 | 586 | A>D | No |
ExAC TOPMed gnomAD |
|
rs747302749 | 586 | A>G | No |
ExAC TOPMed gnomAD |
|
rs747302749 | 586 | A>V | No |
ExAC TOPMed gnomAD |
|
rs185334662 | 587 | N>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs185334662 | 587 | N>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2128703466 | 587 | N>Y | No | Ensembl | |
rs2128701569 | 588 | V>A | No | Ensembl | |
rs2128701583 | 588 | V>I | No | Ensembl | |
rs2128701583 | 588 | V>L | No | Ensembl | |
rs776770495 | 589 | I>F | No |
ExAC gnomAD |
|
rs1416061465 | 589 | I>M | No | gnomAD | |
rs776770495 | 589 | I>V | No |
ExAC gnomAD |
|
rs764138686 | 590 | L>P | No |
ExAC gnomAD |
|
rs1442896981 | 591 | I>M | No | gnomAD | |
rs2128701535 | 591 | I>T | No | Ensembl | |
rs1772736986 | 591 | I>V | No |
TOPMed gnomAD |
|
rs2128701525 | 592 | S>C | No | Ensembl | |
TCGA novel | 592 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2128701521 | 592 | S>N | No | Ensembl | |
rs1398319876 | 592 | S>R | No | gnomAD | |
rs2128701498 | 593 | D>E | No | Ensembl | |
rs1330973277 | 593 | D>N | No |
TOPMed gnomAD |
|
rs1330973277 | 593 | D>Y | No |
TOPMed gnomAD |
|
rs2128701494 | 594 | I>V | No | Ensembl | |
rs2128701479 | 595 | I>F | No | Ensembl | |
rs1772735885 | 595 | I>T | No | Ensembl | |
rs2128701456 | 596 | E>* | No | Ensembl | |
rs2128701448 | 596 | E>D | No | Ensembl | |
COSM450402 | 596 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2128701456 | 596 | E>Q | No | Ensembl | |
rs2128701452 | 596 | E>V | No | Ensembl | |
rs775792027 | 597 | L>F | No |
ExAC gnomAD |
|
rs775792027 | 597 | L>V | No |
ExAC gnomAD |
|
rs749046164 | 598 | F>L | No |
ExAC gnomAD |
|
rs2128701421 | 599 | E>A | No | Ensembl | |
rs1477984030 | 599 | E>D | No | gnomAD | |
COSM1697835 rs867987684 COSM1697836 |
599 | E>K | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
rs2128701421 | 599 | E>V | No | Ensembl | |
COSM4920963 COSM4920964 |
600 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2128701409 | 600 | L>F | No | Ensembl | |
rs1772734278 | 600 | L>S | No | TOPMed | |
rs769737276 | 601 | G>A | No |
ExAC gnomAD |
|
rs2128701401 | 601 | G>C | No | Ensembl | |
rs769737276 | 601 | G>D | No |
ExAC gnomAD |
|
rs2128701401 | 601 | G>R | No | Ensembl | |
rs2128701401 | 601 | G>S | No | Ensembl | |
rs769737276 | 601 | G>V | No |
ExAC gnomAD |
|
rs1438247113 | 602 | P>A | No | gnomAD | |
rs2128701365 | 602 | P>H | No | Ensembl | |
rs2128701365 | 602 | P>L | No | Ensembl | |
rs2128701365 | 602 | P>R | No | Ensembl | |
rs1438247113 | 602 | P>S | No | gnomAD | |
rs1235934351 | 603 | S>A | No |
TOPMed gnomAD |
|
rs1713882489 | 603 | S>C | No | TOPMed | |
rs1713882489 | 603 | S>F | No | TOPMed | |
rs780736075 | 604 | A>G | No |
ExAC gnomAD |
|
rs1772732533 | 604 | A>P | No | Ensembl | |
rs1772732533 | 604 | A>S | No | Ensembl | |
rs1772732533 | 604 | A>T | No | Ensembl | |
rs780736075 | 604 | A>V | No |
ExAC gnomAD |
|
rs2128701291 | 605 | W>* | No | Ensembl | |
rs2128701303 | 605 | W>* | No | Ensembl | |
rs2128701291 | 605 | W>C | No | Ensembl | |
rs2128701309 | 605 | W>R | No | Ensembl | |
rs2128701303 | 605 | W>S | No | Ensembl | |
rs2128701283 | 606 | Q>H | No | Ensembl | |
rs2128701278 | 607 | N>D | No | Ensembl | |
rs2128701271 | 607 | N>K | No | Ensembl | |
rs2128701278 | 607 | N>Y | No | Ensembl | |
rs779640008 | 608 | W>* | No |
ExAC TOPMed gnomAD |
|
rs1772730824 | 608 | W>* | No | Ensembl | |
rs1772730824 | 608 | W>C | No | Ensembl | |
rs779640008 | 608 | W>L | No |
ExAC TOPMed gnomAD |
|
rs376165477 | 608 | W>R | No |
ESP ExAC TOPMed gnomAD |
|
rs779640008 | 608 | W>S | No |
ExAC TOPMed gnomAD |
|
rs2128701235 | 609 | T>I | No | Ensembl | |
rs2128701242 | 609 | T>P | No | Ensembl | |
rs2128701235 | 609 | T>S | No | Ensembl | |
rs750770442 | 610 | Y>C | No |
ExAC gnomAD |
|
rs750770442 | 610 | Y>F | No |
ExAC gnomAD |
|
rs2128701216 | 610 | Y>N | No | Ensembl | |
rs1465868712 | 611 | E>D | No |
TOPMed gnomAD |
|
rs2128701201 | 611 | E>G | No | Ensembl | |
rs2128701204 | 611 | E>K | No | Ensembl | |
rs2128701204 | 611 | E>Q | No | Ensembl | |
rs2128701201 | 611 | E>V | No | Ensembl | |
rs2128701172 | 612 | V>E | No | Ensembl | |
rs1357720968 | 612 | V>L | No | gnomAD | |
rs779213880 | 613 | K>E | No |
ExAC gnomAD |
|
COSM1647865 COSM739472 COSM739471 rs1582817966 |
614 | V>A | lung [Cosmic] | No |
cosmic curated Ensembl |
rs1582817966 | 614 | V>E | No | Ensembl | |
rs1582817966 | 614 | V>G | No | Ensembl | |
TCGA novel | 614 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs757769588 | 615 | S>A | No |
ExAC gnomAD |
|
rs188607208 | 615 | S>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs188607208 | 615 | S>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs188607208 | 615 | S>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs764706003 | 616 | T>I | No |
ExAC TOPMed gnomAD |
|
rs764706003 | 616 | T>S | No |
ExAC TOPMed gnomAD |
|
rs950724665 | 617 | Q>* | No |
TOPMed gnomAD |
|
rs950724665 | 617 | Q>E | No |
TOPMed gnomAD |
|
rs752848792 | 617 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs950724665 | 617 | Q>K | No |
TOPMed gnomAD |
|
rs1178195749 | 618 | D>E | No | gnomAD | |
rs151183861 RCV000897120 |
618 | D>G | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1438145481 | 618 | D>H | No |
TOPMed gnomAD |
|
rs1438145481 | 618 | D>N | No |
TOPMed gnomAD |
|
rs151183861 | 618 | D>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1438145481 | 618 | D>Y | No |
TOPMed gnomAD |
|
rs1470291308 | 619 | P>A | No | gnomAD | |
rs1772725760 | 619 | P>H | No | gnomAD | |
rs1772725760 | 619 | P>L | No | gnomAD | |
rs1772725760 | 619 | P>R | No | gnomAD | |
rs1470291308 | 619 | P>S | No | gnomAD | |
rs1234303360 | 620 | P>A | No |
TOPMed gnomAD |
|
rs2128701016 | 620 | P>L | No | Ensembl | |
rs2128701016 | 620 | P>R | No | Ensembl | |
rs1234303360 | 620 | P>S | No |
TOPMed gnomAD |
|
rs2128700988 | 621 | E>D | No | Ensembl | |
COSM3619895 rs759714879 COSM3619896 |
621 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs759714879 | 621 | E>Q | No |
ExAC gnomAD |
|
rs2128700994 | 621 | E>V | No | Ensembl | |
rs2128700970 | 622 | V>D | No | Ensembl | |
rs2128700975 | 622 | V>F | No | Ensembl | |
rs2128700970 | 622 | V>G | No | Ensembl | |
TCGA novel | 622 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2128700975 | 622 | V>L | No | Ensembl | |
rs1562349493 | 623 | T>I | No | Ensembl | |
rs1562349493 | 623 | T>S | No | Ensembl | |
rs1562349506 | 623 | T>S | No | Ensembl | |
rs773053104 | 623 | T>S | No |
ExAC TOPMed gnomAD |
|
rs2128700936 | 624 | H>D | No | Ensembl | |
rs2128700936 | 624 | H>N | No | Ensembl | |
rs2128700929 | 624 | H>Q | No | Ensembl | |
rs769530508 | 624 | H>R | No |
ExAC TOPMed gnomAD |
|
rs2128700936 TCGA novel |
624 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs2128700922 | 625 | I>F | No | Ensembl | |
rs1280879862 | 625 | I>N | No | gnomAD | |
rs1280879862 | 625 | I>T | No | gnomAD | |
rs2128700899 | 626 | F>I | No | Ensembl | |
rs776365305 | 626 | F>L | No | ExAC | |
rs2128700897 | 626 | F>Y | No | Ensembl | |
rs2128700888 | 627 | L>* | No | Ensembl | |
rs2128700879 | 628 | N>I | No | Ensembl | |
rs2128700872 | 628 | N>K | No | Ensembl | |
rs2128700885 | 628 | N>Y | No | Ensembl | |
rs1285043088 | 629 | I>T | No | gnomAD | |
rs142877218 | 629 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
rs1772722306 | 630 | S>G | No | Ensembl | |
rs1224165751 | 630 | S>N | No |
TOPMed gnomAD |
|
rs2128700851 | 630 | S>R | No | Ensembl | |
rs1224165751 | 630 | S>T | No |
TOPMed gnomAD |
|
rs1282664597 | 631 | G>E | No | gnomAD | |
rs1375767478 | 631 | G>R | No |
TOPMed gnomAD |
|
rs148952125 | 632 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
rs148952125 | 632 | T>N | No |
ESP ExAC TOPMed gnomAD |
|
rs148952125 | 632 | T>S | No |
ESP ExAC TOPMed gnomAD |
|
rs2128700805 | 633 | M>I | No | Ensembl | |
rs2128700815 | 633 | M>K | No | Ensembl | |
rs373150912 | 633 | M>V | No |
ESP TOPMed gnomAD |
|
TCGA novel | 634 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2128700789 | 634 | L>Q | No | Ensembl | |
rs2128700797 | 634 | L>V | No | Ensembl | |
rs1418393917 | 635 | N>D | No | gnomAD | |
rs2128700760 | 635 | N>K | No | Ensembl | |
rs2128700765 | 635 | N>S | No | Ensembl | |
rs2128700741 | 636 | V>E | No | Ensembl | |
rs146800947 | 636 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
rs146800947 | 636 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
rs2128700718 | 637 | P>A | No | Ensembl | |
rs2128700706 | 637 | P>H | No | Ensembl | |
rs2128700706 | 637 | P>R | No | Ensembl | |
rs2128700718 | 637 | P>S | No | Ensembl | |
rs190237500 | 638 | E>D | No |
1000Genomes TOPMed |
|
rs2128700682 | 638 | E>G | No | Ensembl | |
rs745567393 | 638 | E>K | No |
ExAC TOPMed gnomAD |
|
rs745567393 | 638 | E>Q | No |
ExAC TOPMed gnomAD |
|
rs2128700682 | 638 | E>V | No | Ensembl | |
rs2128700667 | 639 | L>Q | No | Ensembl | |
rs2128700670 | 639 | L>V | No | Ensembl | |
rs2128700650 | 640 | Q>* | No | Ensembl | |
rs2128700650 | 640 | Q>E | No | Ensembl | |
rs757498661 | 640 | Q>H | No |
ExAC gnomAD |
|
rs1772718414 | 640 | Q>L | No | Ensembl | |
rs1772718414 | 640 | Q>P | No | Ensembl | |
rs1772718414 | 640 | Q>R | No | Ensembl | |
rs2128700628 | 641 | S>I | No | Ensembl | |
rs2128700621 | 641 | S>R | No | Ensembl | |
rs2128700609 | 642 | A>G | No | Ensembl | |
rs2128700616 | 642 | A>S | No | Ensembl | |
rs2128700616 | 642 | A>T | No | Ensembl | |
rs2128700609 | 642 | A>V | No | Ensembl | |
rs1772717502 | 643 | M>I | No | TOPMed | |
rs2128700593 | 643 | M>K | No | Ensembl | |
rs1772717785 | 643 | M>V | No | Ensembl | |
rs2128700569 | 645 | Y>* | No | Ensembl | |
rs1772717255 | 645 | Y>C | No | TOPMed | |
rs1772717255 | 645 | Y>F | No | TOPMed | |
rs2128700581 | 645 | Y>N | No | Ensembl | |
rs2128700560 | 646 | K>E | No | Ensembl | |
rs2128700550 | 646 | K>M | No | Ensembl | |
rs1257591659 | 646 | K>N | No | gnomAD | |
rs2128700550 | 646 | K>R | No | Ensembl | |
rs1189533164 | 647 | V>G | No | gnomAD | |
rs2128700541 | 647 | V>L | No | Ensembl | |
rs754263972 | 648 | S>C | No |
ExAC TOPMed gnomAD |
|
rs754263972 | 648 | S>F | No |
ExAC TOPMed gnomAD |
|
rs2128700506 | 649 | V>E | No | Ensembl | |
rs2128700512 | 649 | V>L | No | Ensembl | |
rs2128700512 | 649 | V>M | No | Ensembl | |
rs756738703 | 650 | R>* | No |
ExAC gnomAD |
|
rs991348240 | 650 | R>T | No | Ensembl | |
rs1287908780 | 651 | A>E | No | gnomAD | |
rs1287908780 | 651 | A>G | No | gnomAD | |
rs959532375 | 651 | A>S | No |
TOPMed gnomAD |
|
rs959532375 | 651 | A>T | No |
TOPMed gnomAD |
|
rs752789600 | 652 | S>I | No |
ExAC gnomAD |
|
rs752789600 | 652 | S>N | No |
ExAC gnomAD |
|
rs767768845 | 652 | S>R | No |
ExAC gnomAD |
|
VAR_041449 RCV000883933 rs34203286 |
653 | S>F | No |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2128700458 | 653 | S>T | No | Ensembl | |
rs2128700440 | 654 | P>Q | No | Ensembl | |
rs768882618 | 654 | P>S | No |
ExAC TOPMed gnomAD |
|
rs1290003301 | 655 | K>E | No | gnomAD | |
rs1463259574 | 655 | K>N | No | TOPMed | |
rs766626912 | 655 | K>R | No |
ExAC TOPMed gnomAD |
|
rs950981570 | 656 | R>S | No | gnomAD | |
rs1668481562 | 657 | P>R | No | TOPMed | |
rs2128700412 | 657 | P>S | No | Ensembl | |
rs755395111 | 658 | G>D | No | Ensembl | |
rs1025709504 COSM3619890 COSM3619889 |
658 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed |
rs2128700390 | 659 | P>A | No | Ensembl | |
rs1772711497 | 659 | P>L | No | TOPMed | |
rs993831048 | 660 | W>* | No | Ensembl | |
rs2128700369 | 660 | W>L | No | Ensembl | |
rs1772710525 | 661 | S>* | No | TOPMed | |
rs1772710525 | 661 | S>L | No | TOPMed | |
rs9489143 | 662 | E>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1234660715 | 663 | P>S | No | gnomAD | |
rs1234660715 | 663 | P>T | No | gnomAD | |
rs1166433247 | 664 | S>L | No | gnomAD | |
TCGA novel | 665 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs776432501 | 666 | G>D | No |
ExAC gnomAD |
|
rs1772709248 | 666 | G>S | No | gnomAD | |
rs776432501 | 666 | G>V | No |
ExAC gnomAD |
|
rs1772708278 | 667 | T>I | No | Ensembl | |
rs768558296 | 668 | T>A | No |
ExAC TOPMed gnomAD |
|
rs2128700244 | 671 | P>A | No | Ensembl | |
rs2128700244 | 671 | P>S | No | Ensembl | |
rs1197748682 | 672 | A>D | No |
TOPMed gnomAD |
|
rs1197748682 | 672 | A>V | No |
TOPMed gnomAD |
|
rs767522283 | 674 | E>K | No |
ExAC gnomAD |
|
rs2128698834 | 675 | P>S | No | Ensembl | |
rs1455451657 | 676 | P>Q | No |
TOPMed gnomAD |
|
rs2128698815 | 679 | M>T | No | Ensembl | |
rs1772635464 | 679 | M>V | No | gnomAD | |
TCGA novel | 680 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2128698805 | 680 | A>V | No | Ensembl | |
rs200174940 | 681 | V>G | No | gnomAD | |
rs1298220220 | 681 | V>M | No | gnomAD | |
rs78135931 | 682 | K>E | No | Ensembl | |
COSM1072605 COSM4865496 |
682 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3619885 COSM3619886 |
682 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1772634109 | 684 | D>G | No | Ensembl | |
rs1772634374 | 684 | D>N | No | TOPMed | |
rs773963225 | 685 | G>E | No |
ExAC gnomAD |
|
rs758924871 | 685 | G>R | No |
ExAC TOPMed gnomAD |
|
rs770462582 | 686 | L>F | No |
ExAC gnomAD |
|
rs986408020 | 688 | S>C | No | Ensembl | |
rs749011714 | 688 | S>N | No |
ExAC TOPMed gnomAD |
|
rs1772631970 | 688 | S>R | No | TOPMed | |
rs924678775 | 690 | P>A | No |
TOPMed gnomAD |
|
rs1418694067 | 690 | P>L | No | gnomAD | |
rs924678775 | 690 | P>S | No |
TOPMed gnomAD |
|
rs924678775 | 690 | P>T | No |
TOPMed gnomAD |
|
rs773694464 | 691 | L>S | No |
ExAC TOPMed gnomAD |
|
rs770223989 | 692 | N>D | No |
ExAC gnomAD |
|
rs748525048 | 694 | F>S | No |
ExAC gnomAD |
|
rs2128698647 | 695 | G>V | No | Ensembl | |
rs144476736 | 696 | P>A | No |
ESP ExAC TOPMed gnomAD |
|
rs756401492 | 696 | P>L | No | Ensembl | |
rs1350752092 | 697 | G>A | No | gnomAD | |
rs1350752092 | 697 | G>E | No | gnomAD | |
rs139359697 | 698 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
rs1772628057 | 699 | F>V | No | gnomAD | |
rs1021788151 | 699 | F>Y | No |
TOPMed gnomAD |
|
rs747038362 | 700 | L>S | No |
ExAC gnomAD |
|
rs150866859 | 701 | S>P | No |
ESP TOPMed gnomAD |
|
rs150866859 | 701 | S>T | No |
ESP TOPMed gnomAD |
|
rs979171969 | 703 | D>V | No | Ensembl | |
rs758536297 | 704 | I>T | No |
ExAC TOPMed gnomAD |
|
rs1307288773 | 704 | I>V | No |
TOPMed gnomAD |
|
COSM1722624 rs868430526 COSM1722625 |
705 | G>E | NS [Cosmic] | No |
cosmic curated Ensembl |
rs2128698546 | 709 | D>N | No | Ensembl | |
rs772072753 | 710 | M>T | No |
ExAC TOPMed gnomAD |
|
rs148214833 | 710 | M>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1443464945 | 711 | D>G | No |
TOPMed gnomAD |
|
rs745980825 COSM1647867 COSM739476 |
711 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs779059461 | 713 | Y>C | No |
ExAC TOPMed gnomAD |
|
COSM4783165 COSM1440088 COSM1440087 rs779059461 |
713 | Y>F | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic ExAC TOPMed gnomAD |
rs1237169331 | 714 | N>K | No | TOPMed | |
rs868736129 | 714 | N>S | No |
TOPMed gnomAD |
|
rs1281615431 | 715 | N>D | No | TOPMed | |
rs1582811825 | 715 | N>T | No | Ensembl | |
rs1044819500 | 716 | S>N | No | Ensembl | |
rs752460038 | 716 | S>R | No |
ExAC gnomAD |
|
rs2128696952 | 717 | L>F | No | Ensembl | |
rs1336317487 COSM1072600 COSM4866065 COSM1072602 |
718 | Y>* | Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs1772532255 | 719 | Y>C | No | TOPMed | |
rs781112268 | 719 | Y>D | No |
ExAC gnomAD |
|
rs754861620 | 720 | S>G | No |
ExAC gnomAD |
|
rs1656690011 | 721 | D>N | No | TOPMed | |
COSM4435153 rs372637439 COSM4435152 |
722 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1192547872 | 723 | K>I | No |
TOPMed gnomAD |
|
rs2128696887 | 724 | G>C | No | Ensembl | |
rs368540212 | 725 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
rs764959275 | 725 | D>H | No |
ExAC TOPMed gnomAD |
|
rs764959275 COSM277105 COSM3157852 COSM277104 |
725 | D>N | kidney Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs761597558 | 725 | D>V | No |
ExAC gnomAD |
|
rs764959275 | 725 | D>Y | No |
ExAC TOPMed gnomAD |
|
rs776027945 | 726 | V>F | No |
ExAC TOPMed gnomAD |
|
rs776027945 COSM3157851 COSM3157850 |
726 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs776027945 | 726 | V>L | No |
ExAC TOPMed gnomAD |
|
COSM95209 rs1476008353 |
727 | F>S | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs1166225687 | 729 | W>C | No |
TOPMed gnomAD |
|
rs1772527807 | 729 | W>L | No | TOPMed | |
rs199693780 | 731 | L>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1197137422 | 731 | L>P | No | gnomAD | |
rs199693780 | 731 | L>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1772525882 | 733 | G>E | No | gnomAD | |
COSM3619884 COSM3619883 rs745928815 |
733 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs1772525882 | 733 | G>V | No | gnomAD | |
rs779006477 | 734 | T>M | No |
ExAC TOPMed gnomAD |
|
rs779006477 | 734 | T>R | No |
ExAC TOPMed gnomAD |
|
rs575172787 | 735 | D>A | No |
1000Genomes ExAC gnomAD |
|
rs2128696696 | 735 | D>E | No | Ensembl | |
rs575172787 | 735 | D>G | No |
1000Genomes ExAC gnomAD |
|
rs1270271107 | 735 | D>N | No | gnomAD | |
rs1339970861 | 736 | I>N | No | gnomAD | |
rs2128696666 | 737 | S>* | No | Ensembl | |
TCGA novel | 738 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs2128696649 COSM202096 COSM202097 |
738 | E>D | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
COSM1647869 COSM739480 |
738 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2128696658 | 738 | E>Q | No | Ensembl | |
rs1231753319 | 740 | Y>* | No |
TOPMed gnomAD |
|
rs2128696626 | 741 | H>L | No | Ensembl | |
rs754731646 | 741 | H>Q | No |
ExAC TOPMed gnomAD |
|
rs777867372 | 741 | H>Y | No |
ExAC TOPMed gnomAD |
|
COSM4874285 COSM1072599 |
742 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1772522469 | 742 | L>P | No | TOPMed | |
rs779989121 | 743 | P>H | No |
ExAC TOPMed gnomAD |
|
rs779989121 | 743 | P>L | No |
ExAC TOPMed gnomAD |
|
COSM1292191 rs1334242622 COSM1292190 |
743 | P>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated gnomAD |
rs1334242622 | 743 | P>T | No | gnomAD | |
rs2128696595 | 744 | S>I | No | Ensembl | |
rs2128696595 | 744 | S>N | No | Ensembl | |
rs758457911 | 744 | S>R | No |
ExAC TOPMed gnomAD |
|
rs749919362 | 745 | I>L | No |
ExAC gnomAD |
|
rs764906451 | 745 | I>N | No |
ExAC gnomAD |
|
rs764906451 | 745 | I>T | No |
ExAC gnomAD |
|
rs1396060666 | 746 | A>S | No | gnomAD | |
rs1396060666 | 746 | A>T | No | gnomAD | |
rs2128696560 COSM3619882 COSM3619881 |
746 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs1772520151 | 747 | G>E | No | TOPMed | |
TCGA novel | 748 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs753464937 | 748 | A>V | No |
ExAC gnomAD |
|
rs1582811221 | 749 | G>E | No | Ensembl | |
rs2128696525 | 750 | A>S | No | Ensembl | |
rs761052833 | 751 | L>F | No | ExAC | |
rs1772518339 | 751 | L>S | No | gnomAD | |
rs775768999 | 754 | E>K | No |
ExAC gnomAD |
|
rs372359152 | 755 | W>* | No |
ESP ExAC gnomAD |
|
rs1328235226 | 755 | W>* | No | TOPMed | |
rs1328235226 | 755 | W>C | No | TOPMed | |
rs372359152 | 755 | W>L | No |
ESP ExAC gnomAD |
|
rs760105730 | 755 | W>R | No | ExAC | |
rs1347143996 | 756 | L>V | No | gnomAD | |
rs773440188 | 758 | H>D | No | ExAC | |
rs542174827 | 759 | F>L | No |
1000Genomes ExAC gnomAD |
|
rs141715386 | 760 | L>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs141715386 RCV000968602 |
760 | L>I | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs745858708 | 760 | L>P | No |
ExAC gnomAD |
|
rs745858708 | 760 | L>R | No |
ExAC gnomAD |
|
rs2128696416 | 761 | Y>* | No | Ensembl | |
rs1311205624 | 761 | Y>C | No |
TOPMed gnomAD |
|
rs1376640341 | 762 | W>L | No | gnomAD | |
rs761749336 | 762 | W>R | No |
ExAC gnomAD |
|
rs1772513586 | 763 | A>D | No | TOPMed | |
rs1772513586 | 763 | A>G | No | TOPMed | |
rs2128696396 | 763 | A>T | No | Ensembl | |
rs1175898010 | 764 | G>* | No |
TOPMed gnomAD |
|
rs1175898010 | 764 | G>R | No |
TOPMed gnomAD |
|
rs368679172 | 764 | G>V | No |
ESP TOPMed |
|
rs147011370 | 765 | K>N | No |
ESP TOPMed |
|
rs1405296671 | 766 | T>I | No |
TOPMed gnomAD |
|
rs753311379 | 766 | T>S | No |
ExAC gnomAD |
|
rs763782411 | 767 | Y>* | No |
ExAC TOPMed gnomAD |
|
rs2128696360 | 767 | Y>C | No | Ensembl | |
rs1010874419 | 768 | V>L | No | gnomAD | |
rs1562342854 | 769 | I>T | No | Ensembl | |
rs1562342866 | 769 | I>V | No | Ensembl | |
rs529695010 | 770 | Q>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs529695010 | 770 | Q>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs745689107 | 772 | Q>P | No |
ExAC gnomAD |
|
rs778946384 | 773 | S>C | No |
ExAC TOPMed gnomAD |
|
rs778946384 | 773 | S>F | No |
ExAC TOPMed gnomAD |
|
rs2128693078 | 774 | V>M | No | Ensembl | |
rs565705980 | 775 | L>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs149313880 | 776 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs149313880 | 776 | T>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1772320905 | 776 | T>S | No | TOPMed | |
rs2128693046 | 777 | G>R | No | Ensembl | |
rs2128693030 | 778 | H>Q | No | Ensembl | |
rs2128693042 | 778 | H>Y | No | Ensembl | |
rs1772320170 | 779 | T>A | No | TOPMed | |
rs2128693016 | 779 | T>I | No | Ensembl | |
COSM1496215 COSM1496216 rs201235239 |
780 | D>E | Variant assessed as Somatic; MODERATE impact. kidney [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC gnomAD |
rs2128693007 | 780 | D>H | No | Ensembl | |
COSM3157843 COSM1072596 |
780 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs767165414 | 781 | I>V | No |
ExAC gnomAD |
|
rs1271113755 | 782 | V>A | No | gnomAD | |
rs1271113755 | 782 | V>D | No | gnomAD | |
rs755291346 | 782 | V>F | No |
ExAC TOPMed gnomAD |
|
rs755291346 | 782 | V>I | No |
ExAC TOPMed gnomAD |
|
rs1341994272 | 783 | T>I | No | TOPMed | |
rs532316698 | 784 | H>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1582804554 | 784 | H>Y | No | Ensembl | |
rs763408803 | 785 | V>L | No |
ExAC TOPMed gnomAD |
|
rs763408803 | 785 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs2128692913 | 787 | L>I | No | Ensembl | |
COSM739482 COSM1647870 |
789 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs750511195 | 789 | V>L | No |
ExAC gnomAD |
|
rs750511195 | 789 | V>M | No |
ExAC gnomAD |
|
rs34582164 RCV000971532 VAR_049712 |
790 | N>S | No |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs761966360 | 791 | D>N | No |
ExAC gnomAD |
|
rs2128692877 | 791 | D>V | No | Ensembl | |
COSM4160150 COSM4160151 rs140511382 RCV000896640 |
792 | M>I | thyroid [Cosmic] | No |
cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs1426636306 | 792 | M>V | No | gnomAD | |
rs769023640 | 793 | V>M | No |
ExAC TOPMed |
|
rs2128692839 | 794 | V>M | No | Ensembl | |
rs2128692821 | 796 | S>L | No | Ensembl | |
rs111621779 | 797 | V>A | No |
ESP ExAC TOPMed gnomAD |
|
rs111621779 | 797 | V>D | No |
ESP ExAC TOPMed gnomAD |
|
rs2128692803 | 797 | V>F | No | Ensembl | |
rs2128692803 | 797 | V>I | No | Ensembl | |
rs2128692785 | 798 | G>C | No | Ensembl | |
rs2128692775 | 799 | G>E | No | Ensembl | |
rs1772314649 | 799 | G>R | No | TOPMed | |
rs1040006908 | 801 | L>F | No | Ensembl | |
rs1040006908 | 801 | L>I | No | Ensembl | |
rs759565527 | 802 | Y>* | No |
ExAC TOPMed |
|
rs1193257514 | 803 | W>* | No |
TOPMed gnomAD |
|
rs200615700 | 804 | T>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
RCV000882242 rs200615700 |
804 | T>N | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1159939787 | 805 | T>A | No | TOPMed | |
rs1772312157 | 806 | L>F | No | TOPMed | |
rs1772312157 | 806 | L>I | No | TOPMed | |
rs145036129 | 807 | Y>C | No |
ESP ExAC gnomAD |
|
rs1772311416 COSM3619879 COSM3619880 |
808 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
rs1307375070 | 809 | V>L | No |
TOPMed gnomAD |
|
rs1772310913 | 810 | E>K | No | Ensembl | |
rs748595080 | 811 | S>G | No | Ensembl | |
rs780771072 | 812 | T>A | No |
ExAC TOPMed gnomAD |
|
rs1772310191 | 813 | R>G | No | Ensembl | |
rs779132348 | 813 | R>I | No | Ensembl | |
rs1772309691 | 813 | R>S | No | Ensembl | |
COSM1672709 rs1216622336 COSM1672708 |
814 | L>I | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated gnomAD |
rs1216622336 | 814 | L>V | No | gnomAD | |
rs914246389 | 815 | N>S | No | Ensembl | |
rs1465256284 | 816 | G>R | No | TOPMed | |
rs751888809 | 817 | E>* | No |
ExAC gnomAD |
|
COSM4537689 COSM4537690 |
817 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs751888809 | 817 | E>Q | No |
ExAC gnomAD |
|
rs780347313 | 818 | S>C | No |
ExAC gnomAD |
|
rs780347313 | 818 | S>G | No |
ExAC gnomAD |
|
rs2128692570 | 818 | S>N | No | Ensembl | |
rs2128692570 | 818 | S>T | No | Ensembl | |
rs2128692553 | 819 | S>F | No | Ensembl | |
rs1371334533 | 819 | S>T | No | gnomAD | |
rs2128692537 | 820 | L>F | No | Ensembl | |
rs1772306735 | 820 | L>P | No | TOPMed | |
rs544407860 | 821 | V>I | No |
TOPMed gnomAD |
|
rs544407860 | 821 | V>L | No |
TOPMed gnomAD |
|
rs924426086 | 822 | L>P | No |
TOPMed gnomAD |
|
rs924426086 | 822 | L>R | No |
TOPMed gnomAD |
|
rs1353818269 | 823 | Q>* | No | gnomAD | |
rs2128692499 | 823 | Q>H | No | Ensembl | |
rs765778935 | 824 | T>A | No |
ExAC gnomAD |
|
rs761936637 | 825 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs761936637 | 825 | Q>K | No |
ExAC TOPMed gnomAD |
|
rs1772304690 | 825 | Q>P | No |
TOPMed gnomAD |
|
rs2128692461 | 826 | P>A | No | Ensembl | |
rs1682914708 | 827 | W>* | No | Ensembl | |
rs2128692446 | 830 | G>V | No | Ensembl | |
rs1454855400 | 831 | K>E | No | gnomAD | |
rs1269764595 | 831 | K>N | No |
TOPMed gnomAD |
|
rs1374573342 | 832 | K>E | No |
TOPMed gnomAD |
|
rs981224591 | 832 | K>N | No |
TOPMed gnomAD |
|
rs36029166 | 832 | K>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs769788471 | 834 | I>V | No |
ExAC TOPMed gnomAD |
|
rs1771908926 | 836 | L>P | No | Ensembl | |
rs1771908926 | 836 | L>R | No | Ensembl | |
rs1274193277 | 837 | T>A | No | TOPMed | |
rs370903490 | 837 | T>N | No |
ESP ExAC TOPMed gnomAD |
|
rs1418777494 | 838 | L>S | No | gnomAD | |
rs1157208285 | 838 | L>V | No |
TOPMed gnomAD |
|
rs199731317 | 839 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
rs780718091 | 839 | D>H | No |
ExAC gnomAD |
|
rs780718091 | 839 | D>N | No |
ExAC gnomAD |
|
rs1484966865 | 840 | L>F | No | gnomAD | |
rs1771904828 | 840 | L>H | No | TOPMed | |
rs1771904828 | 840 | L>P | No | TOPMed | |
rs746721106 | 841 | S>R | No |
ExAC gnomAD |
|
rs1771904350 | 842 | D>G | No | TOPMed | |
rs2128685170 | 842 | D>Y | No | Ensembl | |
rs2128685156 | 843 | G>R | No | Ensembl | |
rs1211997454 | 844 | L>F | No |
TOPMed gnomAD |
|
rs1211997454 | 844 | L>I | No |
TOPMed gnomAD |
|
rs201920657 | 846 | Y>C | No |
ExAC TOPMed gnomAD |
|
rs201920657 | 846 | Y>S | No |
ExAC TOPMed gnomAD |
|
rs779266768 | 847 | W>* | No |
ExAC TOPMed gnomAD |
|
rs779266768 | 847 | W>C | No |
ExAC TOPMed gnomAD |
|
rs1771902550 | 847 | W>L | No | TOPMed | |
rs61729670 | 847 | W>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs757880878 | 848 | L>W | No |
ExAC gnomAD |
|
rs1353443254 | 849 | V>I | No | gnomAD | |
rs764329833 | 850 | Q>* | No |
ExAC gnomAD |
|
COSM739486 COSM1647872 |
850 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 853 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 853 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM4992419 COSM4992418 |
854 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1460047377 | 855 | I>F | No | Ensembl | |
TCGA novel | 855 | I>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1771900046 | 856 | H>Q | No | Ensembl | |
COSM3619878 COSM3619877 |
856 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs752798332 | 857 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA |
rs1771899359 | 857 | L>R | No | TOPMed | |
rs767816340 | 858 | Y>* | No |
ExAC gnomAD |
|
rs762602217 | 859 | T>K | No |
ExAC TOPMed gnomAD |
|
rs1231286589 | 860 | A>D | No |
TOPMed gnomAD |
|
rs1771897924 | 861 | V>A | No | TOPMed | |
rs2128684955 COSM3619874 COSM3619873 |
862 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs1161406135 | 862 | L>P | No | gnomAD | |
rs146533107 | 863 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
rs142979736 | 863 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
rs142979736 | 863 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
COSM1072591 COSM3619872 rs146533107 COSM1072593 |
863 | R>W | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
COSM3619870 rs768095857 COSM3619871 |
865 | Q>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
VAR_041450 | 865 | Q>H | a lung large cell carcinoma sample; somatic mutation [UniProt] | No | UniProt |
COSM1440079 COSM1440080 rs776103430 |
865 | Q>R | large_intestine [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs979014772 | 866 | S>N | No |
TOPMed gnomAD |
|
rs934233893 | 866 | S>R | No | TOPMed | |
rs1358315577 | 867 | T>A | No | gnomAD | |
rs767616403 | 869 | D>N | No |
ExAC TOPMed gnomAD |
|
rs755272149 | 869 | D>V | No |
ExAC gnomAD |
|
rs922898650 | 870 | T>A | No | TOPMed | |
rs973411916 | 870 | T>I | No |
TOPMed gnomAD |
|
rs973411916 | 870 | T>N | No |
TOPMed gnomAD |
|
rs750183711 | 871 | T>A | No |
ExAC gnomAD |
|
rs1370586180 | 873 | T>I | No | gnomAD | |
rs1780227164 | 874 | E>A | No | TOPMed | |
rs765076581 | 875 | F>S | No | ExAC | |
rs963388678 | 875 | F>V | No | Ensembl | |
rs539820527 | 876 | A>T | No |
1000Genomes ExAC gnomAD |
|
rs2128662668 | 876 | A>V | No | Ensembl | |
TCGA novel | 877 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1780225719 | 877 | A>S | No | Ensembl | |
rs2128662654 | 877 | A>V | No | Ensembl | |
rs1394879221 | 878 | W>* | No | gnomAD | |
rs2128662640 | 878 | W>L | No | Ensembl | |
rs776486332 | 878 | W>R | No |
ExAC gnomAD |
|
rs760081041 | 879 | S>N | No |
ExAC gnomAD |
|
rs760081041 | 879 | S>T | No |
ExAC gnomAD |
|
rs775105679 | 880 | T>A | No |
ExAC gnomAD |
|
rs2128662598 | 880 | T>I | No | Ensembl | |
rs1172204797 | 881 | S>* | No | gnomAD | |
rs1562321708 | 883 | I>T | No | Ensembl | |
rs146570171 COSM109622 |
884 | S>F | skin [Cosmic] | No |
cosmic curated Ensembl |
rs1780221892 | 885 | Q>R | No | TOPMed | |
rs117865341 | 887 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs369516763 | 888 | L>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs369516763 | 888 | L>R | No |
ESP ExAC TOPMed gnomAD |
|
rs1476549252 | 889 | M>I | No |
TOPMed gnomAD |
|
rs763350500 | 889 | M>K | No | Ensembl | |
rs1452840689 | 889 | M>L | No |
TOPMed gnomAD |
|
rs763350500 | 889 | M>R | No | Ensembl | |
rs1248261976 | 890 | Y>C | No | gnomAD | |
rs1780219326 | 890 | Y>D | No | Ensembl | |
COSM95208 rs749698242 |
891 | Y>C | lung [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs749698242 | 891 | Y>F | No |
ExAC TOPMed gnomAD |
|
rs557592852 | 891 | Y>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1240882470 | 892 | S>G | No | gnomAD | |
rs1240882470 | 892 | S>R | No | gnomAD | |
rs778372043 | 893 | G>C | No |
ExAC gnomAD |
|
rs2128662421 | 893 | G>D | No | Ensembl | |
rs2128662421 | 893 | G>V | No | Ensembl | |
rs748148750 | 894 | R>G | No |
ExAC TOPMed gnomAD |
|
rs535778217 | 894 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs535778217 | 894 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs748148750 | 894 | R>W | No |
ExAC TOPMed gnomAD |
|
rs1780216629 | 896 | F>L | No | TOPMed | |
rs866590541 | 897 | W>* | No | gnomAD | |
rs866590541 | 897 | W>C | No | gnomAD | |
rs1410939393 | 897 | W>R | No | gnomAD | |
rs1780215163 | 898 | I>V | No | Ensembl | |
rs1255849184 | 899 | N>D | No | gnomAD | |
rs2128662310 | 900 | G>D | No | Ensembl | |
rs2128662310 | 900 | G>V | No | Ensembl | |
rs1374376426 | 901 | F>L | No |
TOPMed gnomAD |
|
rs1780213284 | 902 | R>M | No | Ensembl | |
rs780260360 | 903 | I>M | No |
ExAC TOPMed gnomAD |
|
rs751748673 | 903 | I>V | No |
ExAC gnomAD |
|
rs1780211548 | 904 | I>M | No | Ensembl | |
rs1030521764 | 904 | I>S | No |
TOPMed gnomAD |
|
rs1030521764 | 904 | I>T | No |
TOPMed gnomAD |
|
rs984585547 | 905 | T>I | No | TOPMed | |
rs984585547 | 905 | T>R | No | TOPMed | |
rs757007505 | 906 | T>I | No |
ExAC gnomAD |
|
rs1361557179 | 908 | E>Q | No | gnomAD | |
rs1780209755 | 909 | I>L | No | TOPMed | |
rs763987499 | 909 | I>T | No |
ExAC TOPMed gnomAD |
|
rs1316079381 | 910 | G>C | No |
TOPMed gnomAD |
|
rs371677605 | 910 | G>D | No |
ESP ExAC TOPMed gnomAD |
|
rs371677605 | 910 | G>V | No |
ESP ExAC TOPMed gnomAD |
|
rs1314684858 | 911 | Q>E | No | TOPMed | |
rs2128662162 | 913 | T>S | No | Ensembl | |
rs1357348863 | 915 | V>A | No | TOPMed | |
rs2128662138 | 917 | V>I | No | Ensembl | |
COSM4864798 COSM1072590 |
919 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs774104513 | 920 | P>A | No |
ExAC gnomAD |
|
rs2128662104 | 920 | P>L | No | Ensembl | |
rs774104513 | 920 | P>S | No |
ExAC gnomAD |
|
rs2128662081 | 921 | A>P | No | Ensembl | |
rs2128662081 | 921 | A>S | No | Ensembl | |
rs2128662081 | 921 | A>T | No | Ensembl | |
rs2128662073 | 921 | A>V | No | Ensembl | |
rs368975857 | 922 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP NCI-TCGA TOPMed gnomAD |
rs368975857 | 922 | R>K | No |
ESP TOPMed gnomAD |
|
rs1780204616 | 925 | Q>H | No | TOPMed | |
rs1780205071 | 925 | Q>K | No | TOPMed | |
rs770726875 | 925 | Q>P | No |
ExAC TOPMed gnomAD |
|
rs770726875 | 925 | Q>R | No |
ExAC TOPMed gnomAD |
|
rs1203951044 | 927 | T>K | No |
TOPMed gnomAD |
|
rs1339675608 | 929 | I>V | No |
TOPMed gnomAD |
|
rs2128662003 | 930 | Q>R | No | Ensembl | |
rs145830106 | 931 | T>A | No |
ESP ExAC TOPMed gnomAD |
|
rs145830106 | 931 | T>S | No |
ESP ExAC TOPMed gnomAD |
|
rs748750515 | 932 | S>A | No |
1000Genomes ExAC gnomAD |
|
COSM3828893 COSM3828894 |
932 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs781566302 | 935 | P>H | No |
ExAC gnomAD |
|
rs768716438 | 937 | P>T | No |
ExAC TOPMed gnomAD |
|
COSM3157824 COSM3157823 |
938 | G>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2128661919 | 938 | G>R | No | Ensembl | |
rs2128661290 | 938 | G>V | No | Ensembl | |
rs750031784 | 939 | N>D | No |
ExAC gnomAD |
|
rs2128661250 | 939 | N>K | No | Ensembl | |
rs764831115 | 939 | N>S | No |
ExAC gnomAD |
|
rs750031784 | 939 | N>Y | No |
ExAC gnomAD |
|
rs2128661247 | 940 | F>L | No | Ensembl | |
rs2128661245 | 940 | F>S | No | Ensembl | |
COSM228087 | 941 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs558256028 | 941 | S>P | No |
1000Genomes ExAC gnomAD |
|
rs1780160191 | 942 | F>L | No | TOPMed | |
rs115534545 RCV000912448 |
942 | F>L | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs764657413 | 943 | T>A | No |
ExAC gnomAD |
|
rs2128661194 | 943 | T>I | No | Ensembl | |
rs2128661194 | 943 | T>S | No | Ensembl | |
rs764657413 | 943 | T>S | No |
ExAC gnomAD |
|
rs2128661158 | 944 | P>R | No | Ensembl | |
rs2128661174 | 944 | P>S | No | Ensembl | |
rs999670889 | 945 | K>* | No | TOPMed | |
rs999670889 | 945 | K>E | No | TOPMed | |
rs140885860 | 945 | K>N | No |
ESP TOPMed |
|
TCGA novel | 945 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs147172890 | 946 | V>F | No |
ESP ExAC TOPMed gnomAD |
|
rs2128661118 | 946 | V>G | No | Ensembl | |
rs147172890 | 946 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
rs147172890 | 946 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
rs2128661115 | 947 | I>F | No | Ensembl | |
rs2128661108 | 947 | I>T | No | Ensembl | |
rs1169032817 | 948 | P>A | No | gnomAD | |
rs774580552 | 948 | P>L | No |
ExAC TOPMed gnomAD |
|
rs774580552 | 948 | P>Q | No |
ExAC TOPMed gnomAD |
|
rs774580552 | 948 | P>R | No |
ExAC TOPMed gnomAD |
|
rs1169032817 | 948 | P>S | No | gnomAD | |
rs2128661083 | 949 | D>H | No | Ensembl | |
rs2128661075 | 949 | D>V | No | Ensembl | |
rs2128661083 TCGA novel |
949 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs1251397232 | 950 | S>A | No | gnomAD | |
rs2128661063 | 950 | S>C | No | Ensembl | |
rs2128661063 | 950 | S>F | No | Ensembl | |
rs2128661040 | 951 | V>D | No | Ensembl | |
rs1780157829 | 951 | V>F | No | Ensembl | |
rs1780157829 | 951 | V>I | No | Ensembl | |
rs1780157829 | 951 | V>L | No | Ensembl | |
rs2128661021 | 952 | Q>* | No | Ensembl | |
rs2128661021 | 952 | Q>E | No | Ensembl | |
rs2128660999 | 953 | E>D | No | Ensembl | |
rs2128661012 | 953 | E>Q | No | Ensembl | |
rs2128661003 | 953 | E>V | No | Ensembl | |
rs2128660984 | 954 | S>C | No | Ensembl | |
rs2128660984 | 954 | S>F | No | Ensembl | |
rs2128660995 | 954 | S>T | No | Ensembl | |
rs2128660984 | 954 | S>Y | No | Ensembl | |
rs2128660967 | 955 | S>* | No | Ensembl | |
rs2128660967 | 955 | S>L | No | Ensembl | |
rs2128660973 | 955 | S>P | No | Ensembl | |
rs2128660950 | 957 | R>G | No | Ensembl | |
rs771104079 | 957 | R>K | No |
ExAC gnomAD |
|
rs771104079 | 957 | R>M | No |
ExAC gnomAD |
|
rs191810593 | 957 | R>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2128660950 | 957 | R>W | No | Ensembl | |
rs754956947 | 958 | I>F | No |
ExAC gnomAD |
|
rs754956947 | 958 | I>V | No |
ExAC gnomAD |
|
rs2229078 | 959 | E>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1780156917 | 959 | E>K | No | gnomAD | |
rs1780156917 | 959 | E>Q | No | gnomAD | |
rs866331955 | 960 | G>* | No | Ensembl | |
rs868806134 | 960 | G>A | No | Ensembl | |
rs868806134 | 960 | G>E | No | Ensembl | |
rs866331955 | 960 | G>R | No | Ensembl | |
TCGA novel | 961 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2128660848 | 961 | N>K | No | Ensembl | |
rs1562320406 | 961 | N>S | No | Ensembl | |
rs2128660866 | 961 | N>Y | No | Ensembl | |
TCGA novel | 962 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel rs2128660832 |
962 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs780146524 | 962 | A>P | No |
ExAC gnomAD |
|
rs780146524 | 962 | A>S | No |
ExAC gnomAD |
|
rs780146524 | 962 | A>T | No |
ExAC gnomAD |
|
rs2128660832 | 962 | A>V | No | Ensembl | |
rs1780155274 | 963 | S>* | No | Ensembl | |
rs1780155274 | 963 | S>L | No | Ensembl | |
rs1275770178 | 964 | S>C | No | gnomAD | |
rs1275770178 | 964 | S>G | No | gnomAD | |
rs2128660789 | 964 | S>I | No | Ensembl | |
rs2128660789 | 964 | S>N | No | Ensembl | |
rs2128660782 | 964 | S>R | No | Ensembl | |
rs2128660789 | 964 | S>T | No | Ensembl | |
rs2128660766 | 965 | F>L | No | Ensembl | |
rs1231099518 | 965 | F>L | No | gnomAD | |
rs2128660752 | 966 | Q>* | No | Ensembl | |
rs2128660752 | 966 | Q>E | No | Ensembl | |
rs371626074 | 966 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
rs764921433 | 967 | I>M | No |
ExAC gnomAD |
|
rs2128660726 | 967 | I>N | No | Ensembl | |
rs2128660701 | 968 | L>P | No | Ensembl | |
rs2128660707 | 968 | L>V | No | Ensembl | |
rs2128660664 | 969 | W>* | No | Ensembl | |
COSM1264497 COSM1264498 rs2128660655 |
969 | W>C | oesophagus [Cosmic] | No |
cosmic curated Ensembl |
rs2128660674 | 969 | W>R | No | Ensembl | |
rs2128660664 | 969 | W>S | No | Ensembl | |
rs756900916 | 970 | N>K | No |
ExAC gnomAD |
|
rs2128660648 | 970 | N>T | No | Ensembl | |
rs2128660629 | 971 | G>A | No | Ensembl | |
rs199835491 | 971 | G>C | No |
ExAC gnomAD |
|
rs2128660629 | 971 | G>D | No | Ensembl | |
rs1369931780 | 972 | P>A | No | gnomAD | |
rs761029946 | 972 | P>H | No |
ExAC gnomAD |
|
rs761029946 | 972 | P>L | No |
ExAC gnomAD |
|
rs761029946 | 972 | P>R | No |
ExAC gnomAD |
|
rs1369931780 | 972 | P>S | No | gnomAD | |
rs1369931780 | 972 | P>T | No | gnomAD | |
rs2128660579 | 973 | P>A | No | Ensembl | |
rs917101052 | 973 | P>L | No |
TOPMed gnomAD |
|
rs917101052 | 973 | P>R | No |
TOPMed gnomAD |
|
rs2128660579 | 973 | P>S | No | Ensembl | |
rs2128660579 | 973 | P>T | No | Ensembl | |
rs759586931 | 974 | A>G | No |
ExAC TOPMed gnomAD |
|
rs376831258 | 974 | A>P | No |
ExAC TOPMed gnomAD |
|
rs376831258 | 974 | A>S | No |
ExAC TOPMed gnomAD |
|
rs376831258 | 974 | A>T | No |
ExAC TOPMed gnomAD |
|
rs759586931 | 974 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs2128660533 | 975 | V>E | No | Ensembl | |
rs2128660545 | 975 | V>I | No | Ensembl | |
rs2128660545 | 975 | V>L | No | Ensembl | |
rs749533554 | 976 | D>A | No |
ExAC TOPMed gnomAD |
|
rs2128660497 | 976 | D>E | No | Ensembl | |
rs749533554 | 976 | D>G | No |
ExAC TOPMed gnomAD |
|
rs771176235 | 976 | D>H | No |
ExAC TOPMed gnomAD |
|
rs771176235 | 976 | D>N | No |
ExAC TOPMed gnomAD |
|
rs749533554 | 976 | D>V | No |
ExAC TOPMed gnomAD |
|
rs771176235 | 976 | D>Y | No |
ExAC TOPMed gnomAD |
|
rs2128660476 | 977 | W>* | No | Ensembl | |
TCGA novel rs2128660472 |
977 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs2128660472 | 977 | W>C | No | Ensembl | |
rs2128660488 | 977 | W>G | No | Ensembl | |
rs2128660476 | 977 | W>L | No | Ensembl | |
rs2128660488 | 977 | W>R | No | Ensembl | |
rs370129182 | 978 | G>A | No |
ESP ExAC gnomAD |
|
rs978782444 | 978 | G>C | No |
TOPMed gnomAD |
|
rs370129182 | 978 | G>D | No |
ESP ExAC gnomAD |
|
rs978782444 | 978 | G>R | No |
TOPMed gnomAD |
|
rs978782444 | 978 | G>S | No |
TOPMed gnomAD |
|
rs370129182 | 978 | G>V | No |
ESP ExAC gnomAD |
|
rs139467403 | 979 | V>A | No |
ESP ExAC TOPMed gnomAD |
|
rs139467403 | 979 | V>E | No |
ESP ExAC TOPMed gnomAD |
|
rs1780150593 | 979 | V>I | No | Ensembl | |
rs1780150593 | 979 | V>L | No | Ensembl | |
rs2128660414 | 980 | V>I | No | Ensembl | |
rs2128660414 | 980 | V>L | No | Ensembl | |
rs746834710 | 981 | F>L | No |
ExAC gnomAD |
|
rs2128660373 | 982 | Y>* | No | Ensembl | |
rs1255828711 | 982 | Y>* | No | gnomAD | |
COSM6104786 COSM594205 COSM594206 rs2128660381 COSM1650494 COSM6104787 |
982 | Y>F | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic Ensembl |
rs2128660391 | 982 | Y>N | No | Ensembl | |
rs2128660381 | 982 | Y>S | No | Ensembl | |
rs2128660359 | 983 | S>N | No | Ensembl | |
rs374498314 | 983 | S>R | No |
ESP ExAC gnomAD |
|
rs2128660359 | 983 | S>T | No | Ensembl | |
rs2128660340 | 984 | V>E | No | Ensembl | |
rs1780149722 | 985 | E>K | No | Ensembl | |
rs1780149722 | 985 | E>Q | No | Ensembl | |
rs2128660312 | 986 | F>Y | No | Ensembl | |
rs2128660277 | 987 | S>N | No | Ensembl | |
rs2128660277 | 987 | S>T | No | Ensembl | |
rs147350512 | 988 | A>G | No |
ESP ExAC TOPMed gnomAD |
|
rs1562320184 | 988 | A>P | No | Ensembl | |
rs147350512 | 988 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
rs747041649 | 989 | H>R | No |
TOPMed gnomAD |
|
COSM3920642 COSM3920643 |
989 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs756804061 | 990 | S>C | No |
ExAC gnomAD |
|
rs756804061 | 990 | S>Y | No |
ExAC gnomAD |
|
rs1780147707 | 991 | K>E | No | Ensembl | |
rs753364114 | 991 | K>N | No |
ExAC gnomAD |
|
COSM1329343 rs1287346255 COSM1329344 |
992 | F>L | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated gnomAD NCI-TCGA Cosmic |
rs1456965447 | 994 | A>G | No | gnomAD | |
rs1456965447 COSM387705 COSM387706 |
994 | A>V | lung [Cosmic] | No |
cosmic curated gnomAD |
rs1780117442 | 995 | S>R | No | Ensembl | |
COSM1722623 COSM1722622 |
996 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1444061608 | 997 | Q>* | No |
TOPMed gnomAD |
|
rs1444061608 | 997 | Q>E | No |
TOPMed gnomAD |
|
rs772131519 | 997 | Q>R | No |
ExAC gnomAD |
|
rs943452007 | 998 | H>R | No | Ensembl | |
rs2128659447 | 998 | H>Y | No | Ensembl | |
rs1780115455 | 999 | S>C | No | Ensembl | |
rs778913413 | 999 | S>P | No |
ExAC TOPMed gnomAD |
|
rs778913413 | 999 | S>T | No |
ExAC TOPMed gnomAD |
|
rs1368425429 | 1000 | L>F | No |
TOPMed gnomAD |
|
rs2128659369 | 1001 | P>L | No | Ensembl | |
rs1028345885 | 1001 | P>T | No | TOPMed | |
rs770304963 | 1002 | V>A | No |
ExAC TOPMed gnomAD |
|
rs2128659365 | 1002 | V>I | No | Ensembl | |
rs1257766314 | 1004 | T>I | No |
TOPMed gnomAD |
|
rs2128659352 | 1006 | E>* | No | Ensembl | |
rs748850729 | 1007 | G>E | No |
ExAC TOPMed |
|
rs141385549 | 1007 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP NCI-TCGA TOPMed gnomAD |
rs748850729 | 1007 | G>V | No |
ExAC TOPMed |
|
rs777378778 | 1009 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs755801647 | 1009 | E>V | No |
ExAC gnomAD |
|
rs200278757 | 1010 | P>A | No |
ESP ExAC TOPMed gnomAD |
|
rs200278757 | 1010 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
rs200278757 | 1010 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
rs1302519741 | 1011 | Y>* | No |
TOPMed gnomAD |
|
rs141171688 | 1011 | Y>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs141171688 | 1011 | Y>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs781590553 | 1011 | Y>H | No |
ExAC gnomAD |
|
rs1780111403 | 1012 | A>T | No | TOPMed | |
rs751947980 | 1012 | A>V | No |
ExAC TOPMed gnomAD |
|
rs766943523 | 1013 | L>F | No |
ExAC gnomAD |
|
rs1323268309 | 1014 | F>L | No | gnomAD | |
rs2128659258 | 1015 | N>I | No | Ensembl | |
rs1295211193 | 1016 | L>F | No |
TOPMed gnomAD |
|
rs2128659235 | 1017 | S>F | No | Ensembl | |
rs1434611083 | 1017 | S>P | No |
TOPMed gnomAD |
|
TCGA novel | 1018 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1366263868 | 1019 | T>I | No | gnomAD | |
COSM3374025 COSM3374024 |
1020 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs762895148 | 1021 | Y>C | No |
ExAC TOPMed gnomAD |
|
rs1285354534 | 1022 | T>I | No | TOPMed | |
rs1285354534 | 1022 | T>S | No | TOPMed | |
rs1385190956 | 1023 | Y>* | No | gnomAD | |
rs2128659151 | 1024 | W>C | No | Ensembl | |
rs1780108004 | 1024 | W>G | No | TOPMed | |
rs1780108004 | 1024 | W>R | No | TOPMed | |
rs750566587 COSM3619865 COSM3619864 |
1025 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs2128659143 | 1025 | G>V | No | Ensembl | |
rs765527922 | 1026 | K>* | No |
ExAC gnomAD |
|
rs765527922 | 1026 | K>E | No |
ExAC gnomAD |
|
RCV000912447 rs143148482 |
1026 | K>M | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000897322 rs149513638 |
1027 | G>D | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1381266956 | 1029 | K>E | No | gnomAD | |
RCV000736227 rs770947269 |
1030 | T>A | No |
ClinVar ExAC dbSNP |
|
TCGA novel | 1031 | S>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs748712887 | 1032 | L>P | No |
ExAC gnomAD |
|
COSM229019 rs772772410 COSM229020 COSM3928055 |
1035 | R>* | Variant assessed as Somatic; HIGH impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA |
rs769418999 | 1035 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs2128659032 | 1036 | A>T | No | Ensembl | |
rs1780103139 | 1036 | A>V | No | Ensembl | |
rs2128659009 | 1037 | P>H | No | Ensembl | |
rs747744775 | 1037 | P>S | No |
ExAC gnomAD |
|
rs1489445418 | 1038 | E>A | No | gnomAD | |
TCGA novel | 1038 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2128658993 | 1038 | E>Q | No | Ensembl | |
rs755260953 | 1040 | V>F | No |
ExAC TOPMed gnomAD |
|
rs755260953 | 1040 | V>I | No |
ExAC TOPMed gnomAD |
|
rs1185167609 | 1041 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1185167609 | 1041 | P>T | No | gnomAD | |
rs747095069 | 1043 | A>P | No |
ExAC TOPMed gnomAD |
|
rs747095069 COSM314880 COSM314879 |
1043 | A>S | lung [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs747095069 | 1043 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs756422681 | 1047 | P>T | No |
ExAC gnomAD |
|
rs1779917967 | 1048 | R>S | No | Ensembl | |
rs1327147007 | 1049 | I>M | No | gnomAD | |
rs751294687 | 1051 | I>T | No |
ExAC gnomAD |
|
rs1779917011 COSM3777050 COSM3777051 |
1051 | I>V | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
rs2128655485 | 1052 | L>* | No | Ensembl | |
rs766135828 | 1052 | L>F | No |
ExAC TOPMed gnomAD |
|
rs534570805 | 1053 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1282740458 | 1054 | S>G | No | gnomAD | |
rs1327113707 | 1055 | G>A | No |
TOPMed gnomAD |
|
rs2128655436 | 1057 | C>F | No | Ensembl | |
rs200648331 | 1057 | C>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1210694550 | 1058 | C>Y | No | Ensembl | |
rs1339445079 | 1059 | N>K | No |
TOPMed gnomAD |
|
rs765184541 | 1060 | K>E | No |
ExAC TOPMed gnomAD |
|
rs746698627 | 1061 | N>D | No | gnomAD | |
rs1582741918 | 1061 | N>S | No | Ensembl | |
rs761293495 | 1062 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs2128655385 | 1063 | V>D | No | Ensembl | |
rs1779913382 | 1064 | V>A | No | gnomAD | |
rs2128655379 | 1064 | V>L | No | Ensembl | |
rs776246659 | 1065 | V>A | No |
ExAC TOPMed gnomAD |
|
rs776246659 | 1065 | V>E | No |
ExAC TOPMed gnomAD |
|
rs1779912617 | 1066 | E>* | No | gnomAD | |
rs1779912617 | 1066 | E>Q | No | gnomAD | |
TCGA novel | 1067 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1779912143 | 1068 | R>T | No | TOPMed | |
rs1779911466 | 1069 | W>* | No | Ensembl | |
rs1779911032 | 1070 | N>K | No | Ensembl | |
rs2128655309 | 1071 | K>E | No | Ensembl | |
rs1258683387 | 1071 | K>N | No |
TOPMed gnomAD |
|
rs1475745760 | 1073 | K>M | No | TOPMed | |
rs1159595080 | 1074 | H>P | No | TOPMed | |
TCGA novel | 1076 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs61729673 | 1077 | G>A | No |
ESP ExAC gnomAD |
|
rs61729673 | 1077 | G>E | No |
ESP ExAC gnomAD |
|
rs902648185 | 1077 | G>R | No | TOPMed | |
rs61729673 | 1077 | G>V | No |
ESP ExAC gnomAD |
|
rs1463744260 | 1078 | V>E | No | gnomAD | |
rs1458536244 | 1078 | V>L | No |
TOPMed gnomAD |
|
rs1458536244 | 1078 | V>M | No |
TOPMed gnomAD |
|
COSM277098 | 1081 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1779906931 | 1081 | K>R | No | Ensembl | |
COSM3619860 COSM3619861 |
1083 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs771605740 | 1084 | I>T | No |
ExAC gnomAD |
|
rs193271148 | 1084 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1041559440 | 1085 | F>L | No | Ensembl | |
rs777710055 | 1086 | Y>C | No |
TOPMed gnomAD |
|
rs1357481298 | 1087 | N>S | No | gnomAD | |
rs1779904625 | 1088 | I>L | No | TOPMed | |
rs777962826 | 1088 | I>M | No |
ExAC gnomAD |
|
rs145056487 | 1088 | I>T | No |
ESP ExAC TOPMed gnomAD |
|
rs1779904625 | 1088 | I>V | No | TOPMed | |
COSM1647873 COSM739489 COSM739488 rs1319247583 |
1089 | S>C | lung [Cosmic] | No |
cosmic curated gnomAD |
rs1319247583 | 1089 | S>F | No | gnomAD | |
rs772396536 | 1090 | N>D | No |
ExAC TOPMed gnomAD |
|
rs1582741417 | 1090 | N>S | No | TOPMed | |
rs781304519 | 1091 | Q>E | No |
ExAC TOPMed gnomAD |
|
rs781304519 | 1091 | Q>K | No |
ExAC TOPMed gnomAD |
|
rs1404760277 | 1091 | Q>L | No |
TOPMed gnomAD |
|
rs1404760277 | 1091 | Q>P | No |
TOPMed gnomAD |
|
rs1404760277 COSM1180436 COSM1180437 |
1091 | Q>R | prostate [Cosmic] | No |
cosmic curated TOPMed gnomAD |
COSM3619858 COSM3619859 rs2128655040 |
1092 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs2128655030 | 1093 | I>T | No | Ensembl | |
rs758142339 | 1093 | I>V | No |
ExAC gnomAD |
|
rs765131630 | 1095 | N>D | No |
ExAC TOPMed gnomAD |
|
RCV000959656 rs115286894 |
1095 | N>I | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs765131630 | 1095 | N>Y | No |
ExAC TOPMed gnomAD |
|
rs2128654983 | 1099 | E>Q | No | Ensembl | |
COSM1440078 COSM4784548 |
1100 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1486897923 | 1100 | D>N | No | gnomAD | |
rs1779900810 | 1100 | D>V | No | Ensembl | |
COSM1720295 COSM1720294 rs200145587 |
1101 | W>* | NS [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs200145587 | 1101 | W>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1409023701 | 1101 | W>R | No |
TOPMed gnomAD |
|
rs867263615 | 1102 | I>S | No | gnomAD | |
rs867263615 | 1102 | I>T | No | gnomAD | |
rs760109353 | 1103 | A>G | No |
ExAC gnomAD |
|
rs2128654942 | 1103 | A>T | No | Ensembl | |
rs760109353 | 1103 | A>V | No |
ExAC gnomAD |
|
rs2128654932 | 1104 | V>F | No | Ensembl | |
rs1452738796 | 1105 | N>H | No |
TOPMed gnomAD |
|
rs775158731 | 1105 | N>S | No |
ExAC TOPMed gnomAD |
|
rs759947584 | 1106 | V>A | No |
ExAC TOPMed gnomAD |
|
rs1779899006 | 1106 | V>I | No | gnomAD | |
rs774918950 | 1107 | T>P | No |
ExAC gnomAD |
|
rs992780681 | 1107 | T>S | No | gnomAD | |
rs2128654871 | 1108 | P>* | No | Ensembl | |
rs754292558 COSM1697831 COSM1697832 |
1108 | P>L | skin [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
COSM1720293 COSM1720292 |
1108 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2128654853 | 1108 | P>T | No | Ensembl | |
VAR_030650 rs2229079 |
1109 | S>L | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1191924885 | 1110 | V>L | No |
TOPMed gnomAD |
|
rs1191924885 | 1110 | V>M | No |
TOPMed gnomAD |
|
rs1779896417 | 1111 | M>T | No | Ensembl | |
rs1477759913 | 1111 | M>V | No | gnomAD | |
rs375027302 | 1113 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs2128654771 | 1114 | Q>* | No | Ensembl | |
rs1304686859 | 1115 | L>V | No | gnomAD | |
rs2128654750 | 1118 | M>K | No | Ensembl | |
rs1427586364 | 1118 | M>L | No | gnomAD | |
TCGA novel | 1118 | M>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1427586364 | 1118 | M>V | No | gnomAD | |
rs2128654739 | 1119 | S>I | No | Ensembl | |
rs2128654739 | 1119 | S>N | No | Ensembl | |
TCGA novel | 1120 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs748201668 | 1121 | R>G | No | ExAC | |
COSM1072587 COSM4872449 |
1121 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2128654717 | 1121 | R>S | No | Ensembl | |
rs150397191 | 1121 | R>T | No |
ESP ExAC TOPMed gnomAD |
|
COSM5813293 COSM5813292 |
1122 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs755237907 | 1122 | C>W | No |
ExAC gnomAD |
|
rs1562316462 | 1123 | F>I | No | TOPMed | |
rs1779894539 | 1123 | F>S | No | Ensembl | |
rs750215153 | 1126 | F>S | No |
ExAC TOPMed gnomAD |
|
rs2128654674 | 1127 | Q>R | No | Ensembl | |
COSM739491 COSM1647874 |
1129 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs757007708 | 1130 | A>S | No |
ExAC gnomAD |
|
TCGA novel | 1132 | T>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs767073922 | 1133 | S>C | No |
ExAC TOPMed gnomAD |
|
rs767073922 | 1133 | S>F | No |
ExAC TOPMed gnomAD |
|
rs1779703269 | 1134 | K>E | No | Ensembl | |
rs142442666 | 1135 | G>A | No |
ESP ExAC TOPMed gnomAD |
|
rs142442666 | 1135 | G>E | No |
ESP ExAC TOPMed gnomAD |
|
rs151330473 | 1135 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
rs1779701479 | 1136 | P>L | No | Ensembl | |
rs1312405953 | 1136 | P>S | No | Ensembl | |
rs2128650395 | 1137 | G>A | No | Ensembl | |
rs2128650409 | 1137 | G>R | No | Ensembl | |
rs2128650367 | 1139 | Y>F | No | Ensembl | |
rs140926672 | 1141 | D>E | No |
1000Genomes ESP ExAC gnomAD |
|
rs752818337 | 1141 | D>N | No | Ensembl | |
rs777135627 | 1142 | V>F | No |
ExAC TOPMed gnomAD |
|
rs777135627 | 1142 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
COSM4949238 COSM1440076 |
1143 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1179127158 | 1143 | V>G | No |
TOPMed gnomAD |
|
rs768658324 | 1143 | V>I | No |
ExAC gnomAD |
|
rs1452552506 | 1144 | K>R | No |
TOPMed gnomAD |
|
rs1007387781 | 1145 | S>T | No | TOPMed | |
rs2128650279 | 1146 | T>A | No | Ensembl | |
rs2128650269 | 1146 | T>K | No | Ensembl | |
rs375496236 | 1147 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
rs1429075405 | 1148 | S>P | No |
TOPMed gnomAD |
|
rs775665843 | 1149 | E>* | No |
ExAC gnomAD |
|
COSM594208 COSM594207 COSM1650495 rs775665843 |
1149 | E>K | lung [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs779824765 | 1150 | I>V | No |
ExAC gnomAD |
|
COSM3857805 COSM3857806 |
1152 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1311786162 | 1154 | P>L | No | gnomAD | |
COSM3619855 COSM3619854 |
1154 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs762243820 | 1155 | H>Y | No |
ExAC TOPMed gnomAD |
|
rs1439883984 | 1157 | I>M | No | TOPMed | |
rs2128649134 | 1158 | T>I | No | Ensembl | |
rs1434469853 | 1159 | L>F | No | gnomAD | |
rs2128649092 | 1161 | G>C | No | Ensembl | |
rs2128649084 | 1161 | G>V | No | Ensembl | |
rs1779652984 | 1162 | N>S | No |
TOPMed gnomAD |
|
rs775612586 | 1163 | K>M | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1163 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs760713115 | 1163 | K>Q | No |
ExAC TOPMed gnomAD |
|
rs775612586 | 1163 | K>R | No |
ExAC TOPMed gnomAD |
|
rs772324949 | 1164 | I>K | No |
1000Genomes ExAC gnomAD |
|
rs772324949 | 1164 | I>T | No |
1000Genomes ExAC gnomAD |
|
rs1444817510 | 1164 | I>V | No | gnomAD | |
rs759618879 | 1165 | V>A | No |
ExAC TOPMed gnomAD |
|
COSM1440074 COSM3157786 rs748436511 |
1167 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
COSM1440072 COSM5143985 rs748436511 |
1167 | L>F | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
rs1278003360 | 1167 | L>S | No | TOPMed | |
rs1779650281 | 1168 | D>E | No | TOPMed | |
rs2128648997 | 1168 | D>H | No | Ensembl | |
rs2128648997 | 1168 | D>Y | No | Ensembl | |
rs769432383 | 1169 | M>T | No |
ExAC TOPMed gnomAD |
|
rs1779650070 | 1169 | M>V | No | Ensembl | |
rs2128648967 | 1173 | Q>E | No | Ensembl | |
rs2128648957 | 1173 | Q>L | No | Ensembl | |
rs747975385 | 1174 | V>I | No |
ExAC gnomAD |
|
rs1779649150 | 1175 | V>L | No | gnomAD | |
rs1779649150 | 1175 | V>M | No | gnomAD | |
COSM1440070 rs370524859 COSM1440069 COSM4782966 |
1177 | T>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs2128648907 | 1178 | F>S | No | Ensembl | |
rs2128648907 | 1178 | F>Y | No | Ensembl | |
rs2128648897 | 1179 | S>L | No | Ensembl | |
rs2128648869 | 1180 | A>G | No | Ensembl | |
rs887790221 | 1180 | A>P | No |
TOPMed gnomAD |
|
rs887790221 COSM1072581 COSM3920641 COSM1072579 |
1180 | A>T | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs2128648869 | 1180 | A>V | No | Ensembl | |
rs1038505092 | 1181 | E>G | No | Ensembl | |
rs1440893130 | 1181 | E>K | No | Ensembl | |
TCGA novel | 1181 | E>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1228020371 | 1182 | R>S | No | gnomAD | |
rs2128648828 | 1183 | V>I | No | Ensembl | |
rs1390676503 | 1185 | S>G | No |
TOPMed gnomAD |
|
rs1304093001 | 1185 | S>N | No |
TOPMed gnomAD |
|
rs1390676503 | 1185 | S>R | No |
TOPMed gnomAD |
|
rs377528980 | 1186 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1366995131 | 1186 | A>V | No | gnomAD | |
rs749977900 | 1187 | V>F | No |
ExAC TOPMed gnomAD |
|
rs749977900 | 1187 | V>I | No |
ExAC TOPMed gnomAD |
|
rs1779644374 | 1189 | Y>C | No | TOPMed | |
rs778659970 | 1189 | Y>N | No |
ExAC gnomAD |
|
rs986632095 | 1190 | T>I | No | Ensembl | |
rs1395082157 | 1190 | T>P | No |
TOPMed gnomAD |
|
rs754239222 | 1191 | A>P | No |
ExAC TOPMed gnomAD |
|
rs754239222 | 1191 | A>T | No |
ExAC TOPMed gnomAD |
|
rs1440151759 | 1192 | D>G | No | TOPMed | |
rs2128648711 | 1192 | D>N | No | Ensembl | |
COSM3857804 COSM3857803 |
1192 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2128648711 | 1192 | D>Y | No | Ensembl | |
rs764578818 | 1193 | N>D | No |
ExAC TOPMed gnomAD |
|
rs2128648676 | 1193 | N>I | No | Ensembl | |
rs144455439 | 1193 | N>K | No |
ESP ExAC TOPMed gnomAD |
|
rs764578818 | 1193 | N>Y | No |
ExAC TOPMed gnomAD |
|
rs753216129 | 1194 | E>K | No |
ExAC gnomAD |
|
rs767426303 | 1195 | M>I | No |
ExAC gnomAD |
|
rs567175783 | 1195 | M>T | No | gnomAD | |
rs142826369 | 1196 | G>* | No |
ExAC TOPMed gnomAD |
|
TCGA novel rs1779640971 |
1196 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
COSM109716 rs142826369 |
1196 | G>R | skin [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs2128648616 | 1199 | A>V | No | Ensembl | |
rs1213277193 | 1201 | G>R | No |
TOPMed gnomAD |
|
rs2128648592 | 1201 | G>V | No | Ensembl | |
rs1213277193 | 1201 | G>W | No |
TOPMed gnomAD |
|
rs774383914 | 1202 | D>G | No |
ExAC gnomAD |
|
rs1231203749 | 1202 | D>Y | No |
TOPMed gnomAD |
|
rs1054726851 | 1203 | S>L | No |
TOPMed gnomAD |
|
rs1779639321 | 1203 | S>T | No | Ensembl | |
rs1407363767 | 1204 | L>F | No | gnomAD | |
rs761671299 | 1206 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs1779637694 | 1206 | L>P | No | TOPMed | |
rs2128648484 | 1208 | H>L | No | Ensembl | |
rs35302901 | 1209 | L>* | No |
ESP ExAC TOPMed gnomAD |
|
rs201618389 | 1210 | H>P | No |
1000Genomes ExAC gnomAD |
|
rs2128648459 | 1210 | H>Y | No | Ensembl | |
rs746889818 | 1211 | N>S | No | ExAC | |
COSM284675 | 1211 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs780046038 | 1212 | R>C | No |
ExAC TOPMed gnomAD |
|
COSM1072578 rs771443531 COSM4874720 COSM1072576 |
1212 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs771443531 | 1212 | R>P | No |
ExAC TOPMed gnomAD |
|
rs780046038 | 1212 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1249324272 | 1213 | S>C | No |
TOPMed gnomAD |
|
rs1779634540 | 1214 | S>C | No | TOPMed | |
rs1181216517 | 1214 | S>N | No | gnomAD | |
rs1181216517 | 1214 | S>T | No | gnomAD | |
rs1779634100 | 1215 | S>T | No |
TOPMed gnomAD |
|
rs2128648369 | 1216 | E>K | No | Ensembl | |
TCGA novel | 1218 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs907999496 | 1219 | Q>R | No | Ensembl | |
rs1779474622 | 1220 | D>V | No | gnomAD | |
TCGA novel | 1221 | S>H | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs777430404 | 1221 | S>L | No |
ExAC gnomAD |
|
rs1282834794 | 1221 | S>T | No | gnomAD | |
rs781517393 | 1223 | V>D | No |
ExAC gnomAD |
|
rs748591196 | 1223 | V>F | No |
ExAC TOPMed gnomAD |
|
rs1459800881 | 1225 | D>N | No | gnomAD | |
rs755577962 | 1229 | I>T | No |
ExAC TOPMed gnomAD |
|
rs2128645864 | 1230 | T>I | No | Ensembl | |
rs766512849 | 1231 | I>S | No |
ExAC TOPMed gnomAD |
|
rs766512849 | 1231 | I>T | No |
ExAC TOPMed gnomAD |
|
rs1779470889 | 1231 | I>V | No | TOPMed | |
rs1161261865 | 1232 | D>G | No |
TOPMed gnomAD |
|
rs550870633 | 1232 | D>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs550870633 | 1232 | D>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1239630506 | 1233 | W>* | No | gnomAD | |
rs1779468824 | 1233 | W>C | No | TOPMed | |
rs1444191883 | 1234 | I>T | No | gnomAD | |
rs1488238763 | 1234 | I>V | No |
TOPMed gnomAD |
|
rs558769547 | 1236 | R>M | No | Ensembl | |
rs376300326 | 1238 | L>I | No |
ESP TOPMed gnomAD |
|
rs765579396 | 1238 | L>P | No |
ExAC TOPMed gnomAD |
|
rs765579396 | 1238 | L>R | No |
ExAC TOPMed gnomAD |
|
rs56192249 | 1239 | Y>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
VAR_041451 rs56192249 |
1239 | Y>F | No |
UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1027270934 | 1241 | A>E | No |
TOPMed gnomAD |
|
rs1027270934 | 1241 | A>V | No |
TOPMed gnomAD |
|
rs767342486 | 1243 | K>R | No |
ExAC gnomAD |
|
COSM4866627 COSM1072575 |
1244 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1779465754 | 1244 | E>K | No | TOPMed | |
rs994551577 | 1245 | S>L | No | TOPMed | |
rs905591135 | 1246 | Q>H | No |
TOPMed gnomAD |
|
TCGA novel | 1247 | N>M | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1456027028 | 1248 | G>R | No |
TOPMed gnomAD |
|
rs770388201 | 1249 | M>I | No |
ExAC TOPMed gnomAD |
|
rs774159081 | 1249 | M>K | No |
ExAC TOPMed gnomAD |
|
rs774159081 | 1249 | M>T | No |
ExAC TOPMed gnomAD |
|
rs2128645742 | 1251 | V>I | No | Ensembl | |
TCGA novel | 1252 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs772825686 | 1252 | F>I | No |
ExAC gnomAD |
|
rs772825686 | 1252 | F>V | No |
ExAC gnomAD |
|
rs1779461956 | 1253 | D>G | No | TOPMed | |
rs923546663 | 1254 | V>A | No |
TOPMed gnomAD |
|
rs373788450 | 1257 | E>Q | No |
ESP TOPMed |
|
rs769474033 | 1258 | H>L | No |
ExAC gnomAD |
|
rs1215089429 | 1260 | V>M | No |
TOPMed gnomAD |
|
rs976398256 | 1261 | K>R | No | Ensembl | |
rs2128645685 COSM2153171 COSM2153170 |
1263 | P>H | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
COSM5960067 COSM5960066 |
1264 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs866824848 | 1265 | E>D | No | TOPMed | |
rs1779459474 | 1265 | E>K | No |
TOPMed gnomAD |
|
rs1779459474 | 1265 | E>Q | No |
TOPMed gnomAD |
|
rs1223560262 | 1266 | V>M | No |
TOPMed gnomAD |
|
rs1562310695 | 1267 | K>N | No | Ensembl | |
rs1779457836 | 1268 | I>F | No | Ensembl | |
rs369902845 | 1268 | I>N | No |
ESP gnomAD |
|
rs369902845 | 1268 | I>S | No |
ESP gnomAD |
|
COSM3619853 COSM3619852 |
1268 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs781664984 | 1272 | N>S | No |
ExAC gnomAD |
|
COSM3619851 COSM3619850 |
1273 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1490594972 | 1274 | T>A | No |
TOPMed gnomAD |
|
rs895672289 | 1274 | T>R | No | TOPMed | |
rs768919164 | 1275 | I>V | No |
ExAC TOPMed gnomAD |
|
rs1418866423 | 1276 | I>F | No | gnomAD | |
rs1324096328 | 1276 | I>T | No |
TOPMed gnomAD |
|
rs1779454795 | 1277 | S>C | No | Ensembl | |
COSM225584 rs1779454795 COSM225583 |
1277 | S>F | NS [Cosmic] | No |
cosmic curated Ensembl |
rs751309238 | 1278 | F>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs780738813 | 1281 | Y>* | No |
ExAC TOPMed gnomAD |
|
rs747487272 | 1281 | Y>D | No |
ExAC gnomAD |
|
rs138034064 | 1282 | P>H | No |
ESP ExAC TOPMed gnomAD |
|
rs138034064 | 1282 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
COSM3619848 COSM3619849 rs1052987141 |
1282 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs750581358 | 1283 | L>F | No |
ExAC TOPMed gnomAD |
|
rs750581358 | 1283 | L>I | No |
ExAC TOPMed gnomAD |
|
rs779247154 | 1284 | L>S | No |
ExAC gnomAD |
|
rs199725375 | 1286 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs373090808 COSM3157781 COSM3157780 |
1286 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs373090808 | 1286 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
rs373090808 | 1286 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
rs199725375 | 1286 | R>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2128644490 | 1287 | L>M | No | Ensembl | |
rs2128644490 | 1287 | L>V | No | Ensembl | |
rs1481438598 | 1288 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs369009006 | 1289 | W>* | No |
ESP TOPMed gnomAD |
|
rs754776601 | 1291 | E>D | No |
ExAC gnomAD |
|
rs777881304 | 1291 | E>G | No |
ExAC gnomAD |
|
rs754051395 | 1291 | E>K | No |
ExAC TOPMed gnomAD |
|
rs754051395 | 1291 | E>Q | No |
ExAC TOPMed gnomAD |
|
COSM3619847 COSM3619846 |
1293 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1221206742 | 1294 | N>D | No | Ensembl | |
COSM1072570 COSM1072572 rs1779361336 COSM4864649 |
1294 | N>S | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic gnomAD |
rs918200907 | 1295 | F>I | No |
TOPMed gnomAD |
|
rs563695654 | 1295 | F>L | No |
1000Genomes ExAC gnomAD |
|
rs575502427 | 1295 | F>Y | No |
1000Genomes ExAC gnomAD |
|
rs1562309446 | 1296 | G>C | No | Ensembl | |
rs762938706 | 1296 | G>D | No |
ExAC TOPMed gnomAD |
|
rs762938706 | 1296 | G>V | No |
ExAC TOPMed gnomAD |
|
rs1779359915 | 1297 | Y>C | No | TOPMed | |
rs764738348 | 1299 | M>I | No |
ExAC TOPMed gnomAD |
|
rs750376505 | 1299 | M>R | No |
ExAC TOPMed gnomAD |
|
rs750376505 | 1299 | M>T | No |
ExAC TOPMed gnomAD |
|
rs1453485026 | 1301 | Y>C | No | gnomAD | |
rs1408460393 | 1302 | Y>C | No | gnomAD | |
rs1346133891 | 1305 | I>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1346133891 | 1305 | I>T | No |
TOPMed gnomAD |
|
rs2128644314 | 1306 | S>N | No | Ensembl | |
rs1779357345 | 1307 | H>R | No | Ensembl | |
rs768246519 | 1309 | L>V | No |
ExAC gnomAD |
|
rs772575534 | 1310 | H>L | No |
ExAC gnomAD |
|
rs772575534 | 1310 | H>R | No |
ExAC gnomAD |
|
rs761092788 | 1310 | H>Y | No |
ExAC gnomAD |
|
rs1008170196 | 1311 | R>* | No |
TOPMed gnomAD |
|
rs62430836 | 1311 | R>L | No |
ExAC TOPMed gnomAD |
|
rs62430836 | 1311 | R>P | No |
ExAC TOPMed gnomAD |
|
rs62430836 COSM1072567 COSM1072569 |
1311 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs2128644235 | 1314 | Q>* | No | Ensembl | |
rs2128644230 | 1314 | Q>L | No | Ensembl | |
rs2128644222 | 1315 | P>S | No | Ensembl | |
rs1779355056 | 1316 | T>A | No | Ensembl | |
rs2128644195 | 1317 | A>S | No | Ensembl | |
rs2128644192 | 1317 | A>V | No | Ensembl | |
rs1779354843 | 1318 | T>I | No | gnomAD | |
rs2128644175 | 1319 | N>K | No | Ensembl | |
rs2128644168 | 1320 | Q>* | No | Ensembl | |
rs1779354403 | 1320 | Q>R | No |
TOPMed gnomAD |
|
rs1203284336 | 1321 | Q>* | No |
TOPMed gnomAD |
|
rs1203284336 | 1321 | Q>E | No |
TOPMed gnomAD |
|
rs968500864 | 1321 | Q>R | No |
TOPMed gnomAD |
|
rs1779353314 | 1322 | N>K | No | Ensembl | |
rs1779353119 | 1323 | K>I | No | Ensembl | |
rs1779352896 | 1324 | R>G | No | TOPMed | |
COSM1072566 COSM4868613 |
1324 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1779352678 COSM1072563 COSM4874673 COSM1072561 |
1324 | R>S | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
cosmic curated TOPMed NCI-TCGA Cosmic |
rs770990202 | 1326 | Q>* | No |
ExAC gnomAD |
|
rs749376024 | 1326 | Q>R | No |
ExAC gnomAD |
|
rs2128644098 | 1327 | C>F | No | Ensembl | |
rs756357483 | 1327 | C>R | No |
ExAC TOPMed gnomAD |
|
rs2128644098 | 1327 | C>Y | No | Ensembl | |
rs2128644095 | 1328 | S>F | No | Ensembl | |
rs1385042218 | 1329 | C>F | No | gnomAD | |
rs2128644078 | 1330 | N>K | No | Ensembl | |
rs2128644075 | 1332 | T>S | No | Ensembl | |
COSM3619845 COSM3619844 |
1333 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1438970357 | 1334 | F>I | No | Ensembl | |
rs2128644057 | 1335 | E>* | No | Ensembl | |
rs779769013 | 1335 | E>D | No |
ExAC gnomAD |
|
rs1779350765 | 1335 | E>G | No | TOPMed | |
rs145742603 | 1336 | L>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1192485576 | 1337 | S>R | No |
TOPMed gnomAD |
|
rs1402555599 | 1340 | M>I | No |
TOPMed gnomAD |
|
rs553278368 | 1340 | M>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs553278368 | 1340 | M>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1456727448 | 1341 | A>D | No | gnomAD | |
rs765109582 | 1341 | A>T | No |
ExAC gnomAD |
|
rs1456727448 | 1341 | A>V | No | gnomAD | |
rs1365408486 | 1343 | D>G | No | gnomAD | |
rs2128643992 | 1343 | D>H | No | Ensembl | |
rs2128643992 COSM4900320 COSM4900319 |
1343 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs1779346071 | 1344 | T>A | No | Ensembl | |
rs368099011 | 1344 | T>N | No |
TOPMed gnomAD |
|
rs2128643959 | 1347 | L>I | No | Ensembl | |
rs1162533892 | 1347 | L>R | No | gnomAD | |
COSM1440067 COSM1440068 rs1779344251 |
1348 | E>D | large_intestine [Cosmic] | No |
cosmic curated TOPMed |
COSM483327 COSM483328 COSM1645902 rs2128643931 |
1350 | P>Q | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
rs2128643936 | 1350 | P>S | No | Ensembl | |
rs2128643908 | 1351 | L>F | No | Ensembl | |
rs934940589 | 1351 | L>V | No | gnomAD | |
rs923571332 | 1352 | I>V | No | Ensembl | |
rs35269727 VAR_041452 |
1353 | Y>S | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
TCGA novel | 1354 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs2128643880 | 1355 | A>D | No | Ensembl | |
rs2128643880 | 1355 | A>V | No | Ensembl | |
rs1779340755 | 1357 | A>P | No | TOPMed | |
rs1779340755 | 1357 | A>T | No | TOPMed | |
rs1188265810 | 1358 | Q>L | No |
TOPMed gnomAD |
|
rs1188265810 | 1358 | Q>R | No |
TOPMed gnomAD |
|
rs760464623 | 1359 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs1779339431 | 1359 | E>G | No | TOPMed | |
rs775283285 | 1360 | I>F | No |
ExAC gnomAD |
|
rs2128643816 | 1360 | I>M | No | Ensembl | |
rs2128643800 | 1361 | W>L | No | Ensembl | |
rs1361880790 | 1361 | W>R | No |
TOPMed gnomAD |
|
rs2128643795 | 1362 | A>G | No | Ensembl | |
rs1226824505 | 1363 | M>I | No |
TOPMed gnomAD |
|
rs1249622633 | 1363 | M>V | No |
TOPMed gnomAD |
|
rs2128643786 | 1364 | D>N | No | Ensembl | |
rs372697979 | 1365 | L>V | No |
ESP TOPMed gnomAD |
|
COSM1731133 rs759998400 COSM1731132 |
1366 | E>* | liver [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs1562308913 | 1366 | E>G | No | Ensembl | |
rs759998400 | 1366 | E>Q | No |
ExAC gnomAD |
|
rs1304190335 | 1367 | G>D | No |
TOPMed gnomAD |
|
rs1304190335 | 1367 | G>V | No |
TOPMed gnomAD |
|
rs949132311 | 1368 | C>S | No |
TOPMed gnomAD |
|
rs774895292 | 1368 | C>S | No |
ExAC gnomAD |
|
rs949132311 | 1368 | C>Y | No |
TOPMed gnomAD |
|
rs2128643708 | 1369 | Q>E | No | Ensembl | |
rs771382014 | 1369 | Q>H | No |
ExAC gnomAD |
|
rs1373192508 | 1370 | C>F | No | gnomAD | |
rs36106063 VAR_041453 |
1370 | C>R | No |
UniProt Ensembl dbSNP |
|
rs1373192508 | 1370 | C>S | No | gnomAD | |
rs1373192508 | 1370 | C>Y | No | gnomAD | |
rs2128643672 | 1371 | W>L | No | Ensembl | |
rs200679820 | 1372 | R>* | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs200679820 | 1372 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM1544589 COSM1663954 |
1374 | I>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs773222044 | 1375 | T>I | No |
ExAC gnomAD |
|
rs773222044 | 1375 | T>R | No |
ExAC gnomAD |
|
rs769929206 | 1376 | V>A | No |
ExAC TOPMed gnomAD |
|
rs2128643651 | 1376 | V>I | No | Ensembl | |
rs368568897 | 1377 | P>A | No |
ESP ExAC TOPMed gnomAD |
|
rs781424868 | 1377 | P>L | No |
ExAC TOPMed gnomAD |
|
rs781424868 | 1377 | P>R | No |
ExAC TOPMed gnomAD |
|
rs368568897 | 1377 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
rs2128643619 | 1378 | A>T | No | Ensembl | |
rs758140275 | 1379 | M>I | No |
ExAC TOPMed gnomAD |
|
rs1248711517 | 1379 | M>V | No | gnomAD | |
rs745716185 | 1380 | L>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
rs2128643606 | 1380 | L>V | No | Ensembl | |
rs779854799 | 1381 | A>P | No |
ExAC gnomAD |
|
rs779854799 | 1381 | A>T | No |
ExAC gnomAD |
|
rs746109140 | 1383 | K>E | No | Ensembl | |
rs754735161 | 1383 | K>I | No |
ExAC gnomAD |
|
rs183156700 | 1384 | T>P | No |
1000Genomes ExAC gnomAD |
|
COSM3619843 COSM3619842 |
1384 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs766583476 | 1385 | L>I | No |
ExAC gnomAD |
|
rs763408577 | 1386 | V>I | No |
ExAC gnomAD |
|
rs1396897004 | 1387 | S>N | No |
TOPMed gnomAD |
|
rs1396897004 | 1387 | S>T | No |
TOPMed gnomAD |
|
rs2128638276 | 1389 | T>I | No | Ensembl | |
rs1444059505 | 1389 | T>P | No | gnomAD | |
rs1243900066 | 1390 | V>M | No | gnomAD | |
rs750846787 | 1391 | D>V | No |
ExAC TOPMed gnomAD |
|
rs1206111595 | 1391 | D>Y | No | gnomAD | |
rs2128638237 | 1392 | G>E | No | Ensembl | |
rs891479903 | 1392 | G>R | No | Ensembl | |
rs765782172 | 1393 | D>E | No |
ExAC TOPMed gnomAD |
|
TCGA novel rs1779016748 |
1393 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs1405707094 | 1393 | D>V | No |
TOPMed gnomAD |
|
rs1206124997 | 1394 | L>F | No |
TOPMed gnomAD |
|
rs1206124997 | 1394 | L>I | No |
TOPMed gnomAD |
|
rs1052769795 | 1394 | L>P | No |
TOPMed gnomAD |
|
rs1206124997 | 1394 | L>V | No |
TOPMed gnomAD |
|
rs1779015011 | 1395 | I>M | No |
TOPMed gnomAD |
|
rs1779014775 | 1396 | Y>H | No | Ensembl | |
rs1287692177 | 1397 | W>* | No | gnomAD | |
rs761853713 | 1397 | W>R | No |
ExAC gnomAD |
|
rs1381396919 | 1400 | T>R | No | gnomAD | |
rs2128638141 | 1401 | A>T | No | Ensembl | |
rs138678303 | 1402 | K>E | No |
ESP ExAC gnomAD |
|
rs1779012704 | 1403 | D>G | No | TOPMed | |
rs2128638128 | 1403 | D>H | No | Ensembl | |
rs1779012416 | 1404 | S>I | No | TOPMed | |
rs1779012416 | 1404 | S>N | No | TOPMed | |
rs150274045 | 1405 | T>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs770579061 | 1405 | T>I | No |
ExAC gnomAD |
|
rs770579061 | 1405 | T>R | No |
ExAC gnomAD |
|
rs1469221153 | 1406 | Q>H | No |
TOPMed gnomAD |
|
rs1779011487 | 1406 | Q>R | No |
TOPMed gnomAD |
|
rs1207686047 | 1408 | Y>N | No |
TOPMed gnomAD |
|
rs2128638072 | 1409 | Q>* | No | Ensembl | |
rs2128638057 | 1409 | Q>H | No | Ensembl | |
rs2128638066 | 1409 | Q>R | No | Ensembl | |
rs1582710410 | 1410 | A>E | No | Ensembl | |
rs2128638048 | 1410 | A>T | No | Ensembl | |
rs1217876302 | 1412 | K>Q | No | gnomAD | |
rs2128637999 | 1413 | G>A | No | Ensembl | |
COSM1697829 rs2128637999 COSM1697830 |
1413 | G>E | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
rs928456849 | 1413 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
TCGA novel | 1415 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2128637993 | 1415 | G>W | No | Ensembl | |
rs2128637968 | 1416 | A>G | No | Ensembl | |
TCGA novel | 1416 | A>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs2128637975 | 1416 | A>S | No | Ensembl | |
rs2128637975 | 1416 | A>T | No | Ensembl | |
rs2128637968 | 1416 | A>V | No | Ensembl | |
TCGA novel | 1418 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs777817381 | 1418 | V>I | No |
ExAC TOPMed gnomAD |
|
rs1385882714 | 1419 | S>C | No | gnomAD | |
rs1385882714 | 1419 | S>F | No | gnomAD | |
rs1183678053 | 1420 | Q>H | No | gnomAD | |
rs1779007923 | 1421 | V>A | No | TOPMed | |
rs2128637922 | 1421 | V>M | No | Ensembl | |
rs2128637905 | 1422 | K>M | No | Ensembl | |
COSM3857801 COSM3857802 |
1422 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1418282255 | 1423 | A>G | No |
TOPMed gnomAD |
|
rs374701749 | 1423 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
rs1418282255 | 1423 | A>V | No |
TOPMed gnomAD |
|
rs2128637865 | 1425 | R>T | No | Ensembl | |
rs1779006730 | 1425 | R>W | No | Ensembl | |
rs1779006296 | 1426 | S>N | No | Ensembl | |
rs1779006110 | 1426 | S>R | No | TOPMed | |
rs2128637833 | 1428 | H>Q | No | Ensembl | |
rs1779005905 | 1429 | I>V | No | TOPMed | |
rs1358301021 | 1431 | A>G | No |
TOPMed gnomAD |
|
rs1312975656 | 1431 | A>P | No | gnomAD | |
rs1312975656 | 1431 | A>T | No | gnomAD | |
rs1358301021 | 1431 | A>V | No |
TOPMed gnomAD |
|
rs1779004353 | 1432 | Y>C | No | gnomAD | |
rs867268246 | 1432 | Y>H | No | Ensembl | |
rs751133474 | 1433 | S>G | No |
ExAC TOPMed gnomAD |
|
rs2128637776 | 1433 | S>N | No | Ensembl | |
rs2128637774 | 1434 | S>* | No | Ensembl | |
rs2128637767 | 1435 | V>I | No | Ensembl | |
rs779780358 | 1436 | M>I | No |
ExAC TOPMed gnomAD |
|
rs1229565223 | 1436 | M>T | No | gnomAD | |
rs2128637733 | 1437 | Q>* | No | Ensembl | |
rs1779003031 | 1437 | Q>R | No | Ensembl | |
rs758668577 | 1438 | P>A | No |
ExAC gnomAD |
|
rs948632310 | 1438 | P>R | No |
TOPMed gnomAD |
|
VAR_030651 rs17079086 |
1439 | F>S | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs765733079 COSM1697828 COSM1697827 |
1440 | P>L | skin [Cosmic] | No |
cosmic curated ExAC gnomAD |
COSM1072557 rs867084033 COSM3157753 COSM1072555 |
1440 | P>S | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic Ensembl NCI-TCGA |
rs147732228 | 1441 | D>G | No |
ESP ExAC TOPMed gnomAD |
|
rs2128637679 | 1441 | D>N | No | Ensembl | |
rs2128637679 | 1441 | D>Y | No | Ensembl | |
rs2128626380 | 1442 | K>N | No | Ensembl | |
rs376021394 | 1443 | A>E | No |
ExAC TOPMed gnomAD |
|
rs376021394 | 1443 | A>G | No |
ExAC TOPMed gnomAD |
|
rs1452299600 | 1443 | A>T | No | TOPMed | |
rs376021394 | 1443 | A>V | No |
ExAC TOPMed gnomAD |
|
rs2128626356 | 1444 | F>C | No | Ensembl | |
COSM1645904 COSM483324 |
1445 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1480952819 | 1446 | S>F | No | gnomAD | |
rs2128626335 | 1447 | L>P | No | Ensembl | |
TCGA novel | 1447 | L>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs756112469 | 1447 | L>V | No | ExAC | |
rs1435575705 | 1448 | A>V | No | TOPMed | |
rs752884684 | 1450 | D>G | No |
ExAC TOPMed gnomAD |
|
rs752884684 | 1450 | D>V | No |
ExAC TOPMed gnomAD |
|
COSM3429912 COSM3429911 |
1450 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1192560596 | 1451 | T>A | No |
TOPMed gnomAD |
|
rs1192560596 | 1451 | T>S | No |
TOPMed gnomAD |
|
rs1778188118 | 1452 | V>M | No | TOPMed | |
rs2128626289 | 1453 | E>G | No | Ensembl | |
rs2128626295 | 1453 | E>Q | No | Ensembl | |
rs2128626281 | 1454 | P>A | No | Ensembl | |
rs2128626275 | 1454 | P>L | No | Ensembl | |
rs2128626281 | 1454 | P>S | No | Ensembl | |
rs767620506 | 1455 | T>A | No |
ExAC gnomAD |
|
rs2128626262 | 1455 | T>I | No | Ensembl | |
rs1231753858 | 1456 | I>T | No |
TOPMed gnomAD |
|
rs759746491 | 1457 | L>V | No |
ExAC gnomAD |
|
rs2128626226 | 1459 | A>P | No | Ensembl | |
rs2128626226 | 1459 | A>S | No | Ensembl | |
COSM739499 COSM1647876 |
1459 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs765083865 | 1459 | A>V | No |
ExAC TOPMed gnomAD |
|
rs761724280 | 1462 | T>A | No |
ExAC TOPMed gnomAD |
|
rs1312553343 | 1463 | S>N | No |
TOPMed gnomAD |
|
rs1778183426 | 1464 | L>I | No | TOPMed | |
rs1303212090 | 1465 | T>A | No | gnomAD | |
TCGA novel | 1466 | I>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs551574654 | 1467 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2128626167 | 1468 | L>F | No | Ensembl | |
rs533175529 | 1469 | P>L | No |
1000Genomes TOPMed gnomAD |
|
rs533175529 | 1469 | P>R | No |
1000Genomes TOPMed gnomAD |
|
rs746497124 | 1470 | L>R | No |
ExAC gnomAD |
|
rs1404057865 | 1471 | A>T | No |
TOPMed gnomAD |
|
rs1778181537 | 1473 | T>P | No | TOPMed | |
rs1308794945 | 1474 | N>D | No |
TOPMed gnomAD |
|
rs963068602 | 1475 | L>I | No |
TOPMed gnomAD |
|
rs1046794283 | 1477 | W>* | No |
TOPMed gnomAD |
|
rs929759630 | 1477 | W>* | No | Ensembl | |
rs929759630 | 1477 | W>C | No | Ensembl | |
rs1046794283 | 1477 | W>L | No |
TOPMed gnomAD |
|
rs1046794283 | 1477 | W>S | No |
TOPMed gnomAD |
|
TCGA novel | 1478 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs745459533 | 1479 | G>D | No |
ExAC TOPMed gnomAD |
|
rs745459533 | 1479 | G>V | No |
ExAC TOPMed gnomAD |
|
rs1240801198 | 1480 | I>M | No |
TOPMed gnomAD |
|
rs1182896315 | 1481 | T>N | No | gnomAD | |
rs757592384 | 1482 | S>G | No |
ExAC gnomAD |
|
rs1257469550 | 1482 | S>N | No | gnomAD | |
rs749689925 | 1483 | P>R | No |
ExAC gnomAD |
|
rs922427037 | 1484 | T>I | No | Ensembl | |
rs2128626024 | 1485 | P>A | No | Ensembl | |
rs2128626020 | 1485 | P>Q | No | Ensembl | |
rs2128626024 | 1485 | P>T | No | Ensembl | |
rs1040880336 | 1487 | Y>C | No |
TOPMed gnomAD |
|
rs1286980491 | 1487 | Y>H | No | gnomAD | |
COSM1544591 rs1562294207 COSM6172038 COSM1544590 COSM6172037 |
1489 | V>F | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic gnomAD |
rs1562294207 | 1489 | V>I | No | gnomAD | |
rs753157680 | 1490 | Y>H | No |
ExAC TOPMed gnomAD |
|
rs373575161 | 1491 | Y>C | No |
ESP ExAC TOPMed gnomAD |
|
rs2128625969 | 1492 | A>E | No | Ensembl | |
rs2128625978 | 1492 | A>T | No | Ensembl | |
TCGA novel | 1493 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs151172982 | 1493 | E>G | No |
ESP ExAC gnomAD |
|
rs142098208 | 1494 | V>A | No |
ESP ExAC TOPMed gnomAD |
|
rs142098208 | 1494 | V>G | No |
ESP ExAC TOPMed gnomAD |
|
rs766758100 COSM72473 |
1495 | N>D | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
COSM1440060 COSM1440061 rs1778174340 |
1495 | N>S | large_intestine [Cosmic] | No |
cosmic curated TOPMed |
rs1778173843 | 1496 | D>E | No | gnomAD | |
rs1158871186 | 1496 | D>Y | No | gnomAD | |
rs1778173601 | 1497 | R>G | No | TOPMed | |
rs1278804712 | 1498 | K>* | No | gnomAD | |
TCGA novel | 1499 | N>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1778172885 | 1500 | S>G | No | gnomAD | |
rs148612298 | 1501 | S>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1226545186 | 1502 | D>E | No | gnomAD | |
rs1421203380 | 1502 | D>G | No |
TOPMed gnomAD |
|
rs958026755 | 1505 | Y>C | No |
TOPMed gnomAD |
|
rs143849918 | 1505 | Y>H | No |
ESP TOPMed gnomAD |
|
RCV000956407 VAR_041454 rs35841892 |
1506 | R>G | No |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1258207555 | 1506 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1258207555 | 1506 | R>K | No | gnomAD | |
rs1258207555 | 1506 | R>T | No | gnomAD | |
rs1489503636 COSM4548633 COSM4548632 |
1509 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs1489503636 | 1509 | E>Q | No |
TOPMed gnomAD |
|
rs1371845070 | 1511 | Q>R | No |
TOPMed gnomAD |
|
rs1778029096 | 1512 | D>E | No | gnomAD | |
rs1778029433 | 1512 | D>G | No | gnomAD | |
rs1778029784 | 1512 | D>N | No | Ensembl | |
rs1227267213 | 1513 | S>N | No |
TOPMed gnomAD |
|
COSM483321 COSM483322 COSM1645905 rs1778028516 |
1514 | I>M | kidney [Cosmic] | No |
cosmic curated gnomAD |
rs1778028168 | 1515 | A>P | No | 1000Genomes | |
rs1778028168 | 1515 | A>S | No | 1000Genomes | |
rs2128624110 | 1515 | A>V | No | Ensembl | |
rs770437430 | 1517 | I>T | No | ExAC | |
rs866401304 | 1518 | E>* | No | Ensembl | |
rs866401304 | 1518 | E>K | No | Ensembl | |
rs762524687 | 1519 | D>N | No |
ExAC gnomAD |
|
TCGA novel | 1519 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs139406677 | 1520 | L>F | No |
ESP TOPMed gnomAD |
|
rs910993051 | 1520 | L>S | No |
TOPMed gnomAD |
|
rs2128624067 | 1521 | Q>* | No | Ensembl | |
rs112739824 | 1522 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
rs112739824 | 1522 | P>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs772770962 | 1522 | P>T | No | ExAC | |
rs1778024048 | 1523 | F>KK* | No | Ensembl | |
rs986408985 | 1524 | S>L | No |
TOPMed gnomAD |
|
rs1345318306 | 1525 | T>A | No | TOPMed | |
rs141763354 | 1525 | T>R | No |
ESP ExAC TOPMed gnomAD |
|
rs925004365 | 1526 | Y>C | No | gnomAD | |
rs138573193 | 1526 | Y>D | No |
ESP ExAC TOPMed gnomAD |
|
rs138573193 | 1526 | Y>H | No |
ESP ExAC TOPMed gnomAD |
|
rs138573193 | 1526 | Y>N | No |
ESP ExAC TOPMed gnomAD |
|
rs1778022335 | 1527 | M>I | No |
TOPMed gnomAD |
|
rs369511700 | 1527 | M>L | No |
ESP ExAC TOPMed gnomAD |
|
rs369511700 | 1527 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 1528 | I>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs780225613 | 1528 | I>V | No |
ExAC gnomAD |
|
rs758560276 | 1529 | Q>* | No |
ExAC TOPMed gnomAD |
|
rs2128623984 | 1529 | Q>H | No | Ensembl | |
rs750621559 | 1529 | Q>R | No |
ExAC TOPMed gnomAD |
|
rs374813403 | 1530 | I>M | No |
ESP TOPMed gnomAD |
|
rs1778021494 | 1530 | I>T | No | gnomAD | |
rs1017338335 | 1531 | A>G | No | TOPMed | |
rs531086338 | 1531 | A>T | No |
1000Genomes ExAC gnomAD |
|
rs1017338335 | 1531 | A>V | No | TOPMed | |
rs2128623953 | 1532 | V>I | No | Ensembl | |
rs2128623953 | 1532 | V>L | No | Ensembl | |
rs755903627 | 1533 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs776274768 RCV000736226 |
1534 | N>missing | No |
ClinVar dbSNP |
|
rs776274768 | 1534 | N>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs776274768 | 1534 | N>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs979161310 | 1534 | N>S | No | Ensembl | |
TCGA novel | 1535 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1199837770 | 1536 | Y>F | No | gnomAD | |
rs752499456 | 1537 | S>L | No |
ExAC gnomAD |
|
rs754848627 | 1538 | D>E | No |
ExAC TOPMed gnomAD |
|
rs2128623886 | 1538 | D>H | No | Ensembl | |
rs373022618 | 1538 | D>V | No |
ESP ExAC TOPMed gnomAD |
|
rs1185119698 | 1539 | P>H | No | TOPMed | |
COSM3619839 rs751502071 COSM3619838 |
1539 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs762390077 | 1541 | E>D | No |
ExAC gnomAD |
|
rs202169003 | 1541 | E>K | No |
1000Genomes ExAC gnomAD |
|
rs1459609360 | 1542 | H>Y | No | TOPMed | |
rs1778015572 | 1544 | P>T | No | TOPMed | |
rs772896918 | 1545 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
COSM4549053 COSM1072550 |
1546 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2128623830 | 1546 | G>V | No | Ensembl | |
rs1033731821 | 1547 | K>E | No |
TOPMed gnomAD |
|
rs542373889 | 1548 | E>Q | No |
1000Genomes ExAC |
|
rs776919099 | 1549 | I>T | No |
ExAC gnomAD |
|
rs150147295 | 1549 | I>V | No |
1000Genomes ExAC gnomAD |
|
rs561775569 | 1550 | W>* | No |
1000Genomes ExAC gnomAD |
|
rs2128623789 | 1550 | W>C | No | Ensembl | |
rs561775569 | 1550 | W>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA gnomAD |
COSM739500 COSM739501 rs1417876029 COSM1647877 |
1551 | G>E | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs776176321 | 1551 | G>R | No |
ExAC gnomAD |
|
rs772231643 | 1552 | K>N | No |
ExAC gnomAD |
|
TCGA novel | 1552 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs745987821 | 1554 | K>E | No |
ExAC gnomAD |
|
rs779188243 | 1555 | N>S | No |
ExAC TOPMed gnomAD |
|
rs779188243 | 1555 | N>T | No |
ExAC TOPMed gnomAD |
|
rs1362301601 | 1556 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
COSM1645906 rs150852319 COSM1137420 COSM1137419 |
1557 | V>I | kidney [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
rs2128622807 | 1559 | E>V | No | Ensembl | |
rs2128622798 | 1562 | Q>* | No | Ensembl | |
rs779963365 | 1563 | L>P | No |
ExAC TOPMed gnomAD |
|
rs1562291174 | 1567 | T>I | No | Ensembl | |
rs2128622769 | 1568 | V>M | No | Ensembl | |
rs141448347 | 1569 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs141448347 COSM3857799 COSM3857800 |
1569 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
COSM3920639 COSM3920640 rs199762082 |
1569 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1284677397 | 1570 | S>L | No | gnomAD | |
rs192730088 | 1570 | S>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs192730088 | 1570 | S>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1582673789 | 1571 | D>A | No | Ensembl | |
rs1582673754 | 1572 | T>P | No | Ensembl | |
rs1562291079 COSM1440058 COSM4786714 COSM1440059 |
1573 | S>N | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic Ensembl NCI-TCGA |
rs1324451226 | 1573 | S>R | No |
TOPMed gnomAD |
|
rs761092844 | 1575 | I>T | No |
ExAC gnomAD |
|
rs763892419 | 1575 | I>V | No |
ExAC gnomAD |
|
rs767933411 | 1576 | I>T | No |
ExAC gnomAD |
|
rs200762545 | 1576 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1404812280 | 1577 | S>C | No | gnomAD | |
rs1278454013 | 1577 | S>P | No |
TOPMed gnomAD |
|
rs770865174 | 1578 | W>* | No |
ExAC TOPMed gnomAD |
|
rs759890825 | 1578 | W>* | No | ExAC | |
rs770865174 | 1578 | W>C | No |
ExAC TOPMed gnomAD |
|
rs1165438791 | 1578 | W>R | No |
TOPMed gnomAD |
|
rs2128622663 | 1579 | R>* | No | Ensembl | |
rs1777928810 COSM3619837 COSM3619836 |
1579 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs763067644 | 1580 | E>G | No | ExAC | |
rs1165495915 | 1580 | E>K | No | gnomAD | |
rs763067644 | 1580 | E>V | No | ExAC | |
COSM1311504 COSM4811450 |
1581 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1474721113 | 1581 | S>F | No | gnomAD | |
rs1423277535 | 1582 | H>Y | No |
TOPMed gnomAD |
|
rs773391483 | 1583 | K>N | No |
ExAC gnomAD |
|
rs2128622627 | 1584 | P>S | No | Ensembl | |
rs531832845 | 1586 | G>E | No | TOPMed | |
rs2128622622 | 1586 | G>R | No | Ensembl | |
rs2128622599 | 1587 | P>A | No | Ensembl | |
rs1264849617 | 1587 | P>L | No |
TOPMed gnomAD |
|
rs2128622599 | 1587 | P>S | No | Ensembl | |
COSM1440057 COSM4948447 |
1589 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1777925811 | 1591 | V>F | No | Ensembl | |
rs1777925811 | 1591 | V>I | No | Ensembl | |
rs368206665 | 1592 | R>C | No |
ExAC gnomAD |
|
rs148310006 | 1592 | R>H | No |
ESP ExAC gnomAD |
|
rs148310006 | 1592 | R>P | No |
ESP ExAC gnomAD |
|
rs368206665 | 1592 | R>S | No |
ExAC gnomAD |
|
rs1337370599 | 1593 | Y>F | No |
TOPMed gnomAD |
|
COSM5869181 COSM5869182 rs2128622556 |
1594 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs1018937624 | 1594 | Q>H | No | Ensembl | |
rs1777923516 | 1595 | L>* | No | Ensembl | |
rs3752564 | 1595 | L>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2128622524 | 1596 | A>S | No | Ensembl | |
rs2128622524 | 1596 | A>T | No | Ensembl | |
rs2128622520 | 1596 | A>V | No | Ensembl | |
rs1342190901 | 1597 | I>* | No | gnomAD | |
rs1281612889 | 1597 | I>V | No |
TOPMed gnomAD |
|
rs1436107648 | 1600 | L>P | No | gnomAD | |
rs45439298 | 1601 | A>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1777922068 | 1601 | A>P | No | TOPMed | |
rs1777922068 | 1601 | A>T | No | TOPMed | |
TCGA novel | 1601 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1408672277 | 1604 | P>S | No |
TOPMed gnomAD |
|
rs547983474 | 1605 | E>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1172074849 | 1606 | T>A | No | gnomAD | |
TCGA novel rs2128622474 |
1606 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
COSM3619834 COSM3619835 |
1607 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs753442951 | 1607 | P>S | No |
ExAC gnomAD |
|
rs143210953 | 1608 | L>V | No |
ExAC gnomAD |
|
rs1291943165 | 1609 | R>* | No |
TOPMed gnomAD |
|
rs1477497007 | 1609 | R>K | No | gnomAD | |
rs1777918988 | 1611 | S>N | No | Ensembl | |
TCGA novel | 1612 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1777918629 | 1612 | E>K | No | TOPMed | |
rs755766404 | 1614 | P>L | No |
ExAC TOPMed gnomAD |
|
COSM3619832 COSM3619833 |
1614 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1456345928 | 1615 | N>D | No | gnomAD | |
rs1777916721 | 1615 | N>S | No | Ensembl | |
rs751986538 | 1617 | R>S | No |
ExAC TOPMed gnomAD |
|
rs1319726072 | 1618 | L>H | No | gnomAD | |
rs1319726072 | 1618 | L>P | No | gnomAD | |
rs2128622392 | 1619 | T>I | No | Ensembl | |
rs146668165 | 1620 | L>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1777913566 | 1620 | L>H | No | TOPMed | |
rs1777913249 | 1621 | L>V | No | Ensembl | |
rs1777912886 | 1622 | V>I | No | Ensembl | |
rs773338439 | 1623 | T>N | No |
ExAC gnomAD |
|
rs769875440 | 1625 | L>V | No |
ExAC TOPMed gnomAD |
|
COSM323108 COSM323109 rs142109327 |
1626 | S>C | lung [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs142109327 | 1626 | S>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1010526451 | 1626 | S>P | No | Ensembl | |
rs2128622328 | 1627 | G>C | No | Ensembl | |
COSM3619831 COSM3619830 |
1627 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2128622328 | 1627 | G>S | No | Ensembl | |
rs2128622317 | 1627 | G>V | No | Ensembl | |
rs2128622310 | 1628 | G>V | No | Ensembl | |
rs1264334742 | 1631 | Y>C | No |
TOPMed gnomAD |
|
rs776944811 | 1631 | Y>H | No |
ExAC TOPMed gnomAD |
|
rs1777908292 | 1632 | V>A | No | gnomAD | |
rs1777908539 | 1632 | V>M | No | Ensembl | |
rs2128622134 | 1635 | V>D | No | Ensembl | |
rs765279582 | 1635 | V>F | No |
TOPMed gnomAD |
|
rs765279582 | 1635 | V>I | No |
TOPMed gnomAD |
|
rs370393953 | 1636 | L>F | No |
ESP ExAC TOPMed gnomAD |
|
rs370393953 | 1636 | L>I | No |
ESP ExAC TOPMed gnomAD |
|
rs367999236 | 1637 | A>D | No |
TOPMed gnomAD |
|
rs367999236 | 1637 | A>G | No |
TOPMed gnomAD |
|
rs1361333016 | 1637 | A>P | No | gnomAD | |
rs367999236 | 1637 | A>V | No |
TOPMed gnomAD |
|
rs1417503410 | 1638 | C>* | No | gnomAD | |
rs147104879 | 1638 | C>F | No |
ESP ExAC TOPMed gnomAD |
|
rs147104879 | 1638 | C>S | No |
ESP ExAC TOPMed gnomAD |
|
rs2128622111 | 1638 | C>S | No | Ensembl | |
rs147104879 | 1638 | C>Y | No |
ESP ExAC TOPMed gnomAD |
|
rs1379084378 | 1639 | H>L | No | gnomAD | |
rs768081803 | 1639 | H>Q | No |
TOPMed gnomAD |
|
rs1379084378 | 1639 | H>R | No | gnomAD | |
COSM1316562 COSM1316561 rs2128622094 |
1639 | H>Y | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
rs937896470 | 1640 | S>A | No | TOPMed | |
rs1441413725 | 1640 | S>C | No |
TOPMed gnomAD |
|
rs1441413725 | 1640 | S>F | No |
TOPMed gnomAD |
|
rs2128622058 | 1641 | E>D | No | Ensembl | |
rs2128622064 | 1641 | E>K | No | Ensembl | |
rs2128622064 | 1641 | E>Q | No | Ensembl | |
rs2128622046 | 1642 | E>* | No | Ensembl | |
rs758846560 | 1642 | E>D | No |
ExAC TOPMed gnomAD |
|
COSM1697823 COSM1697824 rs2128622046 |
1642 | E>K | NS Variant assessed as Somatic; MODERATE impact. skin [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
rs2128622046 | 1642 | E>Q | No | Ensembl | |
rs1260462127 | 1643 | M>I | No | TOPMed | |
rs1181248171 | 1643 | M>V | No |
TOPMed gnomAD |
|
rs750934790 | 1644 | W>C | No |
ExAC TOPMed gnomAD |
|
TCGA novel rs1777893903 |
1644 | W>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs2128622023 | 1644 | W>L | No | Ensembl | |
rs1777893903 | 1644 | W>R | No |
TOPMed gnomAD |
|
rs2128621999 | 1645 | C>* | No | Ensembl | |
rs765262539 | 1645 | C>F | No |
ExAC gnomAD |
|
rs1777893244 | 1645 | C>R | No |
TOPMed gnomAD |
|
rs2128621999 | 1645 | C>W | No | Ensembl | |
rs765262539 | 1645 | C>Y | No |
ExAC gnomAD |
|
rs761904834 | 1646 | T>A | No |
ExAC TOPMed gnomAD |
|
rs1046359018 | 1646 | T>I | No |
TOPMed gnomAD |
|
rs761904834 | 1646 | T>S | No |
ExAC TOPMed gnomAD |
|
rs2128621977 | 1647 | E>D | No | Ensembl | |
rs2128621986 | 1647 | E>Q | No | Ensembl | |
rs2128621983 | 1647 | E>V | No | Ensembl | |
rs764420063 | 1648 | S>C | No |
ExAC TOPMed gnomAD |
|
rs764420063 | 1648 | S>G | No |
ExAC TOPMed gnomAD |
|
rs1421889146 | 1648 | S>N | No |
TOPMed gnomAD |
|
rs2128621959 | 1648 | S>R | No | Ensembl | |
rs1242429496 | 1649 | H>N | No | gnomAD | |
rs2128621953 | 1649 | H>R | No | Ensembl | |
rs1242429496 | 1649 | H>Y | No | gnomAD | |
rs1320046867 | 1650 | P>A | No |
TOPMed gnomAD |
|
rs201532881 | 1650 | P>L | No |
1000Genomes TOPMed gnomAD |
|
rs201532881 | 1650 | P>R | No |
1000Genomes TOPMed gnomAD |
|
rs1320046867 | 1650 | P>S | No |
TOPMed gnomAD |
|
rs1320046867 | 1650 | P>T | No |
TOPMed gnomAD |
|
rs2128621922 | 1651 | V>D | No | Ensembl | |
rs1777890523 | 1651 | V>F | No | TOPMed | |
rs1777890523 | 1651 | V>I | No | TOPMed | |
rs1777890523 | 1651 | V>L | No | TOPMed | |
TCGA novel | 1652 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2128621899 | 1652 | T>I | No | Ensembl | |
rs1562290184 | 1652 | T>P | No | Ensembl | |
rs1562290184 | 1652 | T>S | No | Ensembl | |
rs2128621899 | 1652 | T>S | No | Ensembl | |
rs1472359289 | 1653 | V>A | No |
TOPMed gnomAD |
|
rs1472359289 | 1653 | V>E | No |
TOPMed gnomAD |
|
rs1472359289 | 1653 | V>G | No |
TOPMed gnomAD |
|
rs2128621887 | 1653 | V>L | No | Ensembl | |
rs2128621887 | 1653 | V>M | No | Ensembl | |
rs2128621858 | 1654 | E>* | No | Ensembl | |
rs2128621858 | 1654 | E>K | No | Ensembl | |
rs2128621858 | 1654 | E>Q | No | Ensembl | |
rs2128621849 | 1655 | M>I | No | Ensembl | |
rs2128621853 | 1655 | M>K | No | Ensembl | |
rs2128621856 | 1655 | M>V | No | Ensembl | |
rs2128621843 | 1656 | F>I | No | Ensembl | |
rs2128621831 | 1656 | F>L | No | Ensembl | |
rs2128621836 | 1656 | F>S | No | Ensembl | |
rs2128621836 | 1656 | F>Y | No | Ensembl | |
rs2128621825 | 1657 | N>I | No | Ensembl | |
rs2128621815 | 1657 | N>K | No | Ensembl | |
rs2128621799 | 1658 | T>I | No | Ensembl | |
rs2128621799 | 1658 | T>R | No | Ensembl | |
rs2128621808 | 1658 | T>S | No | Ensembl | |
rs184429367 | 1659 | P>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1359523756 | 1659 | P>L | No | gnomAD | |
rs1359523756 | 1659 | P>R | No | gnomAD | |
rs184429367 | 1659 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs184429367 RCV000963035 |
1659 | P>T | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2128621770 | 1660 | E>* | No | Ensembl | |
rs2128621755 | 1660 | E>D | No | Ensembl | |
rs2128621765 | 1660 | E>G | No | Ensembl | |
rs2128621770 | 1660 | E>K | No | Ensembl | |
rs2128621770 | 1660 | E>Q | No | Ensembl | |
rs1468695285 | 1661 | K>N | No | gnomAD | |
COSM3828891 COSM3828892 |
1661 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1777888433 | 1661 | K>R | No | TOPMed | |
rs1777888433 | 1661 | K>T | No | TOPMed | |
rs141772440 | 1662 | P>A | No |
ESP ExAC gnomAD |
|
rs769404232 | 1662 | P>H | No |
ExAC gnomAD |
|
rs769404232 | 1662 | P>L | No |
ExAC gnomAD |
|
rs769404232 | 1662 | P>R | No |
ExAC gnomAD |
|
rs141772440 | 1662 | P>S | No |
ESP ExAC gnomAD |
|
rs754717204 | 1663 | Y>* | No |
ExAC gnomAD |
|
rs2128621714 | 1663 | Y>N | No | Ensembl | |
rs1777886627 | 1664 | S>C | No | TOPMed | |
rs1777886627 | 1664 | S>F | No | TOPMed | |
rs1777886627 | 1664 | S>Y | No | TOPMed | |
rs2128621682 | 1665 | L>* | No | Ensembl | |
rs780398903 | 1665 | L>F | No |
ExAC TOPMed gnomAD |
|
rs2128621686 | 1665 | L>M | No | Ensembl | |
rs2128621661 | 1666 | V>D | No | Ensembl | |
rs758795675 | 1666 | V>F | No |
ExAC gnomAD |
|
COSM35766 rs758795675 COSM1559726 |
1666 | V>I | central_nervous_system [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs758795675 | 1666 | V>L | No |
ExAC gnomAD |
|
rs1777885821 | 1667 | P>A | No | Ensembl | |
rs866472077 COSM3857795 COSM3857796 |
1667 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
rs866472077 | 1667 | P>R | No | Ensembl | |
rs1777885821 | 1667 | P>T | No | Ensembl | |
rs2128621626 | 1668 | E>* | No | Ensembl | |
rs145788522 | 1668 | E>D | No |
ESP ExAC TOPMed gnomAD |
|
rs2128621626 | 1668 | E>K | No | Ensembl | |
rs2128621626 | 1668 | E>Q | No | Ensembl | |
rs2128621616 | 1669 | N>D | No | Ensembl | |
rs2128621612 | 1669 | N>I | No | Ensembl | |
rs2128621616 | 1669 | N>Y | No | Ensembl | |
rs1360437041 | 1670 | T>A | No | TOPMed | |
rs1360437041 | 1670 | T>S | No | TOPMed | |
rs2128621604 | 1670 | T>S | No | Ensembl | |
rs1191272034 | 1671 | S>C | No | gnomAD | |
rs149694844 | 1671 | S>N | No | ESP | |
rs2128621584 | 1671 | S>R | No | Ensembl | |
rs149694844 | 1671 | S>T | No | ESP | |
rs1280459437 | 1672 | L>F | No |
TOPMed gnomAD |
|
rs2128621570 | 1673 | Q>* | No | Ensembl | |
rs2128621570 | 1673 | Q>E | No | Ensembl | |
rs2128621557 | 1673 | Q>H | No | Ensembl | |
rs2128621565 | 1673 | Q>R | No | Ensembl | |
rs2128621552 | 1674 | F>I | No | Ensembl | |
rs1264140574 | 1674 | F>L | No | gnomAD | |
rs2128621547 | 1674 | F>Y | No | Ensembl | |
rs2128621528 | 1675 | N>I | No | Ensembl | |
rs757298192 | 1675 | N>K | No | ExAC | |
rs2128621528 | 1675 | N>S | No | Ensembl | |
rs1777883679 | 1675 | N>Y | No | TOPMed | |
rs2128621515 | 1676 | W>* | No | Ensembl | |
rs1777883048 | 1676 | W>* | No | Ensembl | |
rs2128621515 | 1676 | W>C | No | Ensembl | |
rs1777883048 | 1676 | W>L | No | Ensembl | |
rs754020828 | 1676 | W>R | No |
ExAC gnomAD |
|
rs2128621507 | 1677 | K>M | No | Ensembl | |
rs2128621502 | 1677 | K>N | No | Ensembl | |
rs2128621507 | 1677 | K>R | No | Ensembl | |
rs1283157285 | 1678 | A>D | No | gnomAD | |
rs1283157285 | 1678 | A>G | No | gnomAD | |
rs2128621492 | 1678 | A>P | No | Ensembl | |
rs2128621492 | 1678 | A>S | No | Ensembl | |
rs2128621492 | 1678 | A>T | No | Ensembl | |
rs1283157285 | 1678 | A>V | No | gnomAD | |
rs764212412 | 1679 | P>A | No |
ExAC TOPMed gnomAD |
|
rs764212412 | 1679 | P>S | No |
ExAC TOPMed gnomAD |
|
rs764212412 | 1679 | P>T | No |
ExAC TOPMed gnomAD |
|
rs2128621454 | 1680 | L>* | No | Ensembl | |
rs2128621447 | 1680 | L>F | No | Ensembl | |
rs1725767255 | 1680 | L>M | No | gnomAD | |
rs2128621454 | 1680 | L>S | No | Ensembl | |
rs2128621442 | 1681 | N>D | No | Ensembl | |
rs760880286 | 1681 | N>I | No |
ExAC gnomAD |
|
rs762297422 | 1681 | N>K | No | Ensembl | |
rs2128621428 | 1682 | V>D | No | Ensembl | |
COSM739502 COSM1647878 rs2128621434 COSM739503 |
1682 | V>F | lung [Cosmic] | No |
cosmic curated Ensembl |
rs2128621434 | 1682 | V>I | No | Ensembl | |
rs2128621434 | 1682 | V>L | No | Ensembl | |
rs1777881454 | 1683 | N>D | No | TOPMed | |
rs1281997419 | 1683 | N>I | No |
TOPMed gnomAD |
|
rs2128621415 | 1683 | N>K | No | Ensembl | |
rs1281997419 | 1683 | N>S | No |
TOPMed gnomAD |
|
rs2128621411 | 1684 | L>F | No | Ensembl | |
rs2128621402 | 1684 | L>H | No | Ensembl | |
rs2128621411 | 1684 | L>I | No | Ensembl | |
rs2128621402 | 1684 | L>P | No | Ensembl | |
rs775601610 | 1685 | I>L | No |
ExAC TOPMed gnomAD |
|
rs2128621382 | 1685 | I>M | No | Ensembl | |
rs575473741 | 1685 | I>N | No | Ensembl | |
rs575473741 | 1685 | I>T | No | Ensembl | |
rs2128621374 | 1686 | R>K | No | Ensembl | |
rs2128621374 | 1686 | R>T | No | Ensembl | |
rs2128621362 | 1687 | F>L | No | Ensembl | |
rs2128621366 | 1687 | F>Y | No | Ensembl | |
TCGA novel | 1688 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs2128621358 | 1688 | W>G | No | Ensembl | |
rs766225570 | 1689 | V>A | No |
ExAC TOPMed gnomAD |
|
rs766225570 | 1689 | V>D | No |
ExAC TOPMed gnomAD |
|
rs2128621355 | 1689 | V>I | No | Ensembl | |
rs1278432974 | 1690 | E>K | No |
TOPMed gnomAD |
|
rs1278432974 | 1690 | E>Q | No |
TOPMed gnomAD |
|
rs2128621342 | 1690 | E>V | No | Ensembl | |
rs1777879636 | 1691 | L>I | No | Ensembl | |
rs2128621331 | 1691 | L>Q | No | Ensembl | |
rs1777879636 | 1691 | L>V | No | Ensembl | |
rs2128621325 | 1692 | Q>* | No | Ensembl | |
rs2128621325 | 1692 | Q>E | No | Ensembl | |
TCGA novel rs2128621318 |
1692 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs140772370 | 1692 | Q>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs140772370 | 1692 | Q>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2128621311 | 1693 | K>E | No | Ensembl | |
rs2128621305 | 1693 | K>N | No | Ensembl | |
rs2128621309 | 1693 | K>R | No | Ensembl | |
rs2128617409 COSM1487171 COSM1487172 |
1694 | W>* | breast [Cosmic] | No |
cosmic curated Ensembl |
rs2128617400 COSM4813176 COSM1487172 COSM4813177 COSM1487171 |
1694 | W>* | Variant assessed as Somatic; HIGH impact. breast [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic Ensembl |
rs2128617400 | 1694 | W>C | No | Ensembl | |
rs112475836 | 1694 | W>R | No | Ensembl | |
rs2128617409 | 1694 | W>S | No | Ensembl | |
rs2128617393 | 1695 | K>N | No | Ensembl | |
rs762836563 | 1696 | Y>* | No |
ExAC gnomAD |
|
rs1777560244 | 1696 | Y>D | No |
TOPMed gnomAD |
|
rs2128617385 | 1696 | Y>F | No | Ensembl | |
rs1777560244 | 1696 | Y>N | No |
TOPMed gnomAD |
|
rs750301229 | 1697 | N>D | No |
ExAC gnomAD |
|
rs2128617372 | 1697 | N>I | No | Ensembl | |
rs765137339 | 1697 | N>K | No |
ExAC TOPMed gnomAD |
|
rs750301229 | 1697 | N>Y | No |
ExAC gnomAD |
|
rs2128617359 | 1698 | E>* | No | Ensembl | |
rs2128617359 | 1698 | E>K | No | Ensembl | |
rs2128617359 | 1698 | E>Q | No | Ensembl | |
rs2128617355 | 1698 | E>V | No | Ensembl | |
rs2128617346 | 1699 | F>I | No | Ensembl | |
rs2128617346 | 1699 | F>V | No | Ensembl | |
rs2128617339 | 1699 | F>Y | No | Ensembl | |
rs2128617330 | 1700 | Y>* | No | Ensembl | |
rs1400675993 | 1701 | H>D | No |
TOPMed gnomAD |
|
rs1400675993 | 1701 | H>N | No |
TOPMed gnomAD |
|
rs2128617320 | 1701 | H>Q | No | Ensembl | |
rs1172596225 | 1701 | H>R | No | gnomAD | |
rs1400675993 | 1701 | H>Y | No |
TOPMed gnomAD |
|
rs776465526 | 1702 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs776465526 | 1702 | V>D | No |
ExAC TOPMed gnomAD |
|
rs776465526 | 1702 | V>G | No |
ExAC TOPMed gnomAD |
|
rs2128617316 | 1702 | V>I | No | Ensembl | |
rs2128617316 | 1702 | V>L | No | Ensembl | |
rs1777556873 | 1703 | K>E | No | gnomAD | |
rs2128617301 | 1703 | K>I | No | Ensembl | |
rs2128617294 | 1703 | K>N | No | Ensembl | |
rs2128617291 | 1704 | T>S | No | Ensembl | |
rs2128617279 | 1705 | S>* | No | Ensembl | |
COSM4852720 COSM1720290 rs2128617279 COSM1720291 |
1705 | S>L | NS Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
rs771782242 | 1706 | C>* | No |
ExAC gnomAD |
|
TCGA novel | 1706 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs143981354 | 1706 | C>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs143981354 | 1706 | C>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2128617264 | 1706 | C>S | No | Ensembl | |
rs771782242 | 1706 | C>W | No |
ExAC gnomAD |
|
rs2128617264 | 1706 | C>Y | No | Ensembl | |
rs1777555169 | 1707 | S>C | No | TOPMed | |
rs2128617250 | 1707 | S>I | No | Ensembl | |
COSM3157723 COSM3157724 rs2128617250 COSM3619829 |
1707 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs1777554857 | 1707 | S>R | No | gnomAD | |
rs2128617250 | 1707 | S>T | No | Ensembl | |
rs546018658 | 1708 | Q>* | No |
1000Genomes ExAC gnomAD |
|
rs546018658 | 1708 | Q>E | No |
1000Genomes ExAC gnomAD |
|
rs2128617236 | 1708 | Q>H | No | Ensembl | |
rs577629463 | 1708 | Q>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1240366975 | 1709 | G>C | No |
TOPMed gnomAD |
|
rs1777553859 | 1709 | G>V | No | TOPMed | |
rs771226930 | 1710 | P>A | No |
ExAC TOPMed gnomAD |
|
rs2128617202 | 1710 | P>L | No | Ensembl | |
rs2128617202 | 1710 | P>R | No | Ensembl | |
rs771226930 | 1710 | P>S | No |
ExAC TOPMed gnomAD |
|
rs2128617178 | 1711 | A>G | No | Ensembl | |
rs1344810205 | 1711 | A>P | No |
TOPMed gnomAD |
|
rs1344810205 | 1711 | A>S | No |
TOPMed gnomAD |
|
rs2128617178 | 1711 | A>V | No | Ensembl | |
rs2128617161 | 1712 | Y>* | No | Ensembl | |
rs2128617166 | 1712 | Y>N | No | Ensembl | |
rs2128617154 | 1713 | V>D | No | Ensembl | |
rs1233603510 | 1713 | V>F | No | gnomAD | |
rs1233603510 | 1713 | V>I | No | gnomAD | |
rs1233603510 | 1713 | V>L | No | gnomAD | |
rs2128617136 | 1714 | C>* | No | Ensembl | |
rs1330583699 | 1714 | C>F | No |
TOPMed gnomAD |
|
rs2128617146 | 1714 | C>R | No | Ensembl | |
rs2128617146 | 1714 | C>S | No | Ensembl | |
rs1330583699 | 1714 | C>S | No |
TOPMed gnomAD |
|
rs1330583699 | 1714 | C>Y | No |
TOPMed gnomAD |
|
rs2128617130 | 1715 | N>D | No | Ensembl | |
rs2128617124 | 1715 | N>I | No | Ensembl | |
rs2128617130 | 1715 | N>Y | No | Ensembl | |
rs2128617110 | 1716 | I>M | No | Ensembl | |
rs778189228 | 1716 | I>N | No |
ExAC TOPMed gnomAD |
|
rs778189228 | 1716 | I>T | No |
ExAC TOPMed gnomAD |
|
rs749750510 | 1716 | I>V | No |
ExAC gnomAD |
|
TCGA novel rs2128617105 |
1717 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs756185420 | 1717 | T>I | No |
ExAC TOPMed gnomAD |
|
rs756185420 | 1717 | T>K | No |
ExAC TOPMed gnomAD |
|
rs756185420 | 1717 | T>R | No |
ExAC TOPMed gnomAD |
|
rs2128617105 | 1717 | T>S | No | Ensembl | |
rs1777551250 | 1718 | N>D | No | TOPMed | |
rs1777551079 | 1718 | N>I | No | Ensembl | |
rs2128617078 | 1718 | N>K | No | Ensembl | |
rs1777551079 | 1718 | N>S | No | Ensembl | |
rs1777551079 | 1718 | N>T | No | Ensembl | |
rs1777551250 | 1718 | N>Y | No | TOPMed | |
rs369993254 | 1719 | L>I | No |
ESP ExAC TOPMed gnomAD |
|
rs2128617071 | 1719 | L>Q | No | Ensembl | |
rs369993254 | 1719 | L>V | No |
ESP ExAC TOPMed gnomAD |
|
rs2128617062 | 1720 | Q>E | No | Ensembl | |
rs2128617050 | 1720 | Q>H | No | Ensembl | |
rs1562285267 | 1720 | Q>L | No | Ensembl | |
rs1777550222 | 1721 | P>A | No | TOPMed | |
rs2128617045 | 1721 | P>L | No | Ensembl | |
rs2128617045 | 1721 | P>R | No | Ensembl | |
rs1777550222 | 1721 | P>S | No | TOPMed | |
rs1777550222 | 1721 | P>T | No | TOPMed | |
rs2128617030 | 1722 | Y>* | No | Ensembl | |
rs2128617035 | 1722 | Y>H | No | Ensembl | |
rs1394041847 | 1723 | T>A | No | gnomAD | |
rs1777549804 | 1723 | T>I | No | TOPMed | |
rs1777549804 | 1723 | T>N | No | TOPMed | |
rs1394041847 | 1723 | T>P | No | gnomAD | |
rs1777549804 COSM1739241 COSM1739240 |
1723 | T>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated TOPMed |
COSM1739241 rs1394041847 COSM1739240 |
1723 | T>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated gnomAD |
rs2128616998 | 1724 | S>* | No | Ensembl | |
rs888269782 | 1724 | S>A | No |
TOPMed gnomAD |
|
rs2128616998 | 1724 | S>L | No | Ensembl | |
rs888269782 | 1724 | S>P | No |
TOPMed gnomAD |
|
rs888269782 | 1724 | S>T | No |
TOPMed gnomAD |
|
rs2128616983 | 1725 | Y>* | No | Ensembl | |
rs1777548452 | 1725 | Y>C | No | TOPMed | |
rs1777548452 | 1725 | Y>F | No | TOPMed | |
rs2128616989 | 1725 | Y>N | No | Ensembl | |
rs2128616978 | 1726 | N>D | No | Ensembl | |
rs2128616973 | 1726 | N>I | No | Ensembl | |
rs2128616952 | 1727 | V>A | No | Ensembl | |
rs2128616952 | 1727 | V>D | No | Ensembl | |
rs2128616960 | 1727 | V>F | No | Ensembl | |
rs2128616960 | 1727 | V>L | No | Ensembl | |
rs2128616938 | 1728 | R>* | No | Ensembl | |
rs2128616938 | 1728 | R>G | No | Ensembl | |
rs1436828538 | 1728 | R>K | No | gnomAD | |
rs2128616927 | 1728 | R>S | No | Ensembl | |
rs1436828538 | 1728 | R>T | No | gnomAD | |
rs2128616919 | 1729 | V>I | No | Ensembl | |
COSM172878 TCGA novel rs2128616919 COSM172879 |
1729 | V>L | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Ensembl |
rs2128616909 | 1730 | V>E | No | Ensembl | |
rs1777547550 | 1730 | V>L | No | TOPMed | |
rs1777547550 | 1730 | V>M | No | TOPMed | |
rs2128616898 | 1731 | V>L | No | Ensembl | |
rs2128616898 | 1731 | V>M | No | Ensembl | |
rs1777546932 | 1732 | V>F | No | Ensembl | |
rs1777546932 | 1732 | V>I | No | Ensembl | |
rs1777546932 | 1732 | V>L | No | Ensembl | |
rs2128616873 | 1733 | Y>* | No | Ensembl | |
rs765042516 | 1733 | Y>C | No |
ExAC TOPMed gnomAD |
|
rs761535895 | 1734 | K>* | No |
ExAC gnomAD |
|
rs2128616861 | 1734 | K>M | No | Ensembl | |
rs2128616857 | 1734 | K>N | No | Ensembl | |
rs2128616861 | 1734 | K>R | No | Ensembl | |
rs375957426 | 1735 | T>K | No |
ESP ExAC TOPMed gnomAD |
|
rs375957426 | 1735 | T>M | No |
ESP ExAC TOPMed gnomAD |
|
rs2128616850 | 1735 | T>P | No | Ensembl | |
rs375957426 | 1735 | T>R | No |
ESP ExAC TOPMed gnomAD |
|
rs2128616850 | 1735 | T>S | No | Ensembl | |
rs2128616835 | 1736 | G>* | No | Ensembl | |
rs2128616826 | 1736 | G>A | No | Ensembl | |
rs2128616826 | 1736 | G>E | No | Ensembl | |
rs2128616835 | 1736 | G>R | No | Ensembl | |
rs2128616826 | 1736 | G>V | No | Ensembl | |
COSM1440054 COSM3157719 COSM1440055 COSM3857794 rs372371100 |
1737 | E>* | Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic ESP ExAC TOPMed gnomAD |
rs372371100 | 1737 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
rs372371100 | 1737 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs1777544837 | 1738 | N>K | No |
TOPMed gnomAD |
|
rs2128616817 | 1738 | N>Y | No | Ensembl | |
rs143435239 | 1739 | S>G | No |
ESP ExAC TOPMed gnomAD |
|
rs1200612813 | 1739 | S>I | No |
TOPMed gnomAD |
|
rs1200612813 | 1739 | S>N | No |
TOPMed gnomAD |
|
rs143435239 | 1739 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
rs2128616790 | 1739 | S>R | No | Ensembl | |
rs1200612813 | 1739 | S>T | No |
TOPMed gnomAD |
|
TCGA novel | 1740 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2128616776 | 1740 | T>I | No | Ensembl | |
rs2128616776 | 1740 | T>N | No | Ensembl | |
rs2128616783 | 1740 | T>P | No | Ensembl | |
rs2128616783 | 1740 | T>S | No | Ensembl | |
rs2128616776 | 1740 | T>S | No | Ensembl | |
rs1238762897 | 1741 | S>* | No | gnomAD | |
rs1238762897 | 1741 | S>L | No | gnomAD | |
rs774010287 | 1741 | S>T | No |
ExAC gnomAD |
|
rs1353853010 | 1742 | L>F | No | gnomAD | |
rs1353853010 | 1742 | L>V | No | gnomAD | |
rs771301135 | 1743 | P>A | No |
ExAC TOPMed gnomAD |
|
rs1242593536 | 1743 | P>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
COSM387704 COSM387703 rs771301135 |
1743 | P>S | lung [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs771301135 | 1743 | P>T | No |
ExAC TOPMed gnomAD |
|
rs2128616724 | 1744 | E>* | No | Ensembl | |
TCGA novel rs2128616713 |
1744 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs2128616719 | 1744 | E>G | No | Ensembl | |
rs2128616724 | 1744 | E>K | No | Ensembl | |
rs2128616724 | 1744 | E>Q | No | Ensembl | |
rs2128616719 | 1744 | E>V | No | Ensembl | |
rs749651979 | 1745 | S>R | No |
ExAC gnomAD |
|
rs773762930 | 1746 | F>I | No |
ExAC gnomAD |
|
rs2128616688 | 1746 | F>L | No | Ensembl | |
rs2128616694 | 1746 | F>S | No | Ensembl | |
rs773762930 | 1746 | F>V | No |
ExAC gnomAD |
|
rs2128616694 | 1746 | F>Y | No | Ensembl | |
rs2128616683 | 1747 | K>M | No | Ensembl | |
rs2128616675 | 1748 | T>A | No | Ensembl | |
rs1213350416 | 1748 | T>I | No |
TOPMed gnomAD |
|
rs1213350416 | 1748 | T>K | No |
TOPMed gnomAD |
|
rs1213350416 | 1748 | T>R | No |
TOPMed gnomAD |
|
rs2128616675 | 1748 | T>S | No | Ensembl | |
rs537810933 | 1749 | K>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2128616653 | 1749 | K>Q | No | Ensembl | |
rs537810933 | 1749 | K>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs537810933 | 1749 | K>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs768835741 | 1750 | A>D | No |
ExAC TOPMed gnomAD |
|
rs768835741 | 1750 | A>G | No |
ExAC TOPMed gnomAD |
|
rs1035565334 | 1750 | A>P | No |
TOPMed gnomAD |
|
rs1035565334 | 1750 | A>S | No |
TOPMed gnomAD |
|
rs1035565334 | 1750 | A>T | No |
TOPMed gnomAD |
|
rs768835741 | 1750 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs2128593641 | 1751 | G>* | No | Ensembl | |
rs2128593633 | 1751 | G>A | No | Ensembl | |
rs2128593633 | 1751 | G>E | No | Ensembl | |
rs2128593641 | 1751 | G>R | No | Ensembl | |
rs2128593633 | 1751 | G>V | No | Ensembl | |
rs2128593626 | 1752 | V>F | No | Ensembl | |
rs762214304 | 1752 | V>G | No |
ExAC TOPMed gnomAD |
|
rs2128593626 | 1752 | V>I | No | Ensembl | |
rs2128593626 | 1752 | V>L | No | Ensembl | |
rs2128593609 | 1753 | P>A | No | Ensembl | |
rs575187153 | 1753 | P>L | No |
1000Genomes ExAC gnomAD |
|
rs575187153 | 1753 | P>Q | No |
1000Genomes ExAC gnomAD |
|
rs575187153 | 1753 | P>R | No |
1000Genomes ExAC gnomAD |
|
rs2128593609 | 1753 | P>S | No | Ensembl | |
rs2128593609 | 1753 | P>T | No | Ensembl | |
rs376099341 | 1754 | N>K | No |
ESP ExAC TOPMed gnomAD |
|
rs2128593598 | 1754 | N>S | No | Ensembl | |
rs1015244536 | 1754 | N>Y | No | Ensembl | |
rs971150436 | 1755 | K>* | No | TOPMed | |
rs971150436 | 1755 | K>E | No | TOPMed | |
rs2128593587 | 1755 | K>N | No | Ensembl | |
rs1270018924 | 1756 | P>L | No | gnomAD | |
rs1270018924 | 1756 | P>Q | No | gnomAD | |
rs1270018924 | 1756 | P>R | No | gnomAD | |
rs2128593582 | 1756 | P>T | No | Ensembl | |
rs2128593566 | 1757 | G>A | No | Ensembl | |
rs1007896648 | 1757 | G>C | No |
TOPMed gnomAD |
|
rs2128593566 | 1757 | G>D | No | Ensembl | |
rs1007896648 | 1757 | G>R | No |
TOPMed gnomAD |
|
rs1007896648 | 1757 | G>S | No |
TOPMed gnomAD |
|
rs2128593566 | 1757 | G>V | No | Ensembl | |
rs1254307589 | 1758 | I>F | No | Ensembl | |
rs1254307589 | 1758 | I>L | No | Ensembl | |
rs2128593553 | 1758 | I>N | No | Ensembl | |
rs2128593553 | 1758 | I>T | No | Ensembl | |
rs1254307589 | 1758 | I>V | No | Ensembl | |
rs2128593537 | 1759 | P>A | No | Ensembl | |
rs2128593532 | 1759 | P>H | No | Ensembl | |
rs2128593532 | 1759 | P>L | No | Ensembl | |
rs2128593532 | 1759 | P>R | No | Ensembl | |
rs2128593537 | 1759 | P>S | No | Ensembl | |
rs2128593537 | 1759 | P>T | No | Ensembl | |
rs2128593518 | 1760 | K>N | No | Ensembl | |
rs2128593523 | 1760 | K>R | No | Ensembl | |
rs777368850 | 1761 | L>* | No |
ExAC gnomAD |
|
rs777368850 | 1761 | L>S | No |
ExAC gnomAD |
|
rs1776891255 | 1761 | L>V | No | Ensembl | |
rs2128593503 | 1762 | L>Q | No | Ensembl | |
rs2128593506 | 1762 | L>V | No | Ensembl | |
rs755939085 | 1763 | E>A | No | ExAC | |
rs2128593484 | 1763 | E>D | No | Ensembl | |
rs755939085 | 1763 | E>V | No | ExAC | |
rs1776890399 | 1764 | G>A | No | gnomAD | |
rs1776890399 | 1764 | G>E | No | gnomAD | |
rs2128593479 | 1764 | G>R | No | Ensembl | |
rs1776890399 | 1764 | G>V | No | gnomAD | |
rs767479948 | 1765 | S>C | No |
ExAC TOPMed gnomAD |
|
rs2128593457 | 1765 | S>I | No | Ensembl | |
rs2128593457 | 1765 | S>N | No | Ensembl | |
rs1268010906 | 1765 | S>R | No |
TOPMed gnomAD |
|
rs2128593457 | 1765 | S>T | No | Ensembl | |
rs1776888919 | 1766 | K>E | No | Ensembl | |
rs2128593446 | 1766 | K>I | No | Ensembl | |
rs2128593444 | 1766 | K>N | No | Ensembl | |
rs2128593440 | 1767 | N>D | No | Ensembl | |
TCGA novel | 1767 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2128593429 | 1767 | N>I | No | Ensembl | |
rs1776888739 | 1767 | N>K | No | Ensembl | |
rs2128593429 | 1767 | N>S | No | Ensembl | |
rs2128593407 | 1768 | S>* | No | Ensembl | |
rs2128593413 | 1768 | S>A | No | Ensembl | |
COSM3619828 COSM229018 COSM3619827 COSM229017 rs2128593407 |
1768 | S>L | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
rs2128593413 | 1768 | S>T | No | Ensembl | |
rs1049529195 | 1769 | I>K | No | Ensembl | |
rs2128593384 | 1769 | I>M | No | Ensembl | |
rs1049529195 | 1769 | I>R | No | Ensembl | |
rs1049529195 | 1769 | I>T | No | Ensembl | |
rs1776888367 | 1769 | I>V | No | Ensembl | |
rs2128593376 | 1770 | Q>* | No | Ensembl | |
rs2128593376 | 1770 | Q>E | No | Ensembl | |
rs2128593370 | 1770 | Q>H | No | Ensembl | |
COSM228085 COSM228086 rs199563442 |
1771 | W>* | skin [Cosmic] | No |
cosmic curated gnomAD |
COSM228085 COSM228086 rs1776887767 |
1771 | W>* | skin [Cosmic] | No |
cosmic curated TOPMed gnomAD |
rs1776887767 | 1771 | W>C | No |
TOPMed gnomAD |
|
rs2128593363 | 1771 | W>G | No | Ensembl | |
rs199563442 | 1771 | W>L | No | gnomAD | |
rs2128593363 | 1771 | W>R | No | Ensembl | |
rs199563442 | 1771 | W>S | No | gnomAD | |
rs1192695384 | 1772 | E>* | No |
TOPMed gnomAD |
|
TCGA novel rs2128593329 |
1772 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs1192695384 | 1772 | E>K | No |
TOPMed gnomAD |
|
rs1192695384 | 1772 | E>Q | No |
TOPMed gnomAD |
|
rs2128593324 | 1773 | K>* | No | Ensembl | |
rs2128593320 | 1773 | K>I | No | Ensembl | |
rs2128593317 | 1773 | K>N | No | Ensembl | |
rs2128593302 | 1774 | A>D | No | Ensembl | |
rs2128593302 | 1774 | A>G | No | Ensembl | |
rs1776887404 | 1774 | A>P | No | Ensembl | |
rs1776887404 | 1774 | A>S | No | Ensembl | |
rs1776887404 | 1774 | A>T | No | Ensembl | |
rs2128593302 | 1774 | A>V | No | Ensembl | |
rs2128593292 | 1775 | E>* | No | Ensembl | |
rs1435810299 | 1775 | E>D | No |
TOPMed gnomAD |
|
rs2128593286 | 1775 | E>G | No | Ensembl | |
rs2128593292 | 1775 | E>K | No | Ensembl | |
rs2128593292 | 1775 | E>Q | No | Ensembl | |
rs2128593286 | 1775 | E>V | No | Ensembl | |
rs1776886464 | 1776 | D>E | No | TOPMed | |
rs2128593269 | 1776 | D>G | No | Ensembl | |
rs12664076 COSM150171 VAR_030652 RCV000953544 COSM150172 |
1776 | D>H | stomach [Cosmic] | No |
cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs12664076 | 1776 | D>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2128593269 | 1776 | D>V | No | Ensembl | |
rs1776886282 | 1777 | N>D | No | TOPMed | |
rs891668128 | 1777 | N>I | No |
TOPMed gnomAD |
|
rs891668128 | 1777 | N>S | No |
TOPMed gnomAD |
|
rs1776886282 | 1777 | N>Y | No | TOPMed | |
COSM3857793 COSM3857791 rs2128593243 COSM3857792 |
1778 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs2128593238 | 1778 | G>A | No | Ensembl | |
rs2128593238 | 1778 | G>E | No | Ensembl | |
rs2128593243 | 1778 | G>R | No | Ensembl | |
rs2128593238 | 1778 | G>V | No | Ensembl | |
rs2128593207 | 1779 | C>* | No | Ensembl | |
rs1171864743 | 1779 | C>F | No |
TOPMed gnomAD |
|
rs762445305 | 1779 | C>G | No |
ExAC TOPMed gnomAD |
|
rs762445305 | 1779 | C>R | No |
ExAC TOPMed gnomAD |
|
rs762445305 | 1779 | C>S | No |
ExAC TOPMed gnomAD |
|
rs1171864743 | 1779 | C>S | No |
TOPMed gnomAD |
|
rs2128593207 | 1779 | C>W | No | Ensembl | |
rs1171864743 | 1779 | C>Y | No |
TOPMed gnomAD |
|
rs2128593202 | 1780 | R>* | No | Ensembl | |
rs2128593202 | 1780 | R>G | No | Ensembl | |
rs1410132066 | 1780 | R>I | No | gnomAD | |
rs1410132066 | 1780 | R>K | No | gnomAD | |
rs2128593190 | 1780 | R>S | No | Ensembl | |
rs1410132066 | 1780 | R>T | No | gnomAD | |
rs2128593181 | 1781 | I>N | No | Ensembl | |
rs2128593181 | 1781 | I>S | No | Ensembl | |
rs2128593185 | 1781 | I>V | No | Ensembl | |
rs149390376 | 1782 | T>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2128593168 | 1782 | T>I | No | Ensembl | |
rs149390376 | 1782 | T>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2128593168 | 1782 | T>R | No | Ensembl | |
rs1295617724 | 1783 | Y>* | No | TOPMed | |
rs1253149587 | 1783 | Y>C | No |
TOPMed gnomAD |
|
rs762317256 | 1783 | Y>D | No |
ExAC TOPMed gnomAD |
|
rs1253149587 | 1783 | Y>F | No |
TOPMed gnomAD |
|
rs762317256 | 1783 | Y>H | No |
ExAC TOPMed gnomAD |
|
rs762317256 | 1783 | Y>N | No |
ExAC TOPMed gnomAD |
|
rs1195358594 | 1784 | Y>* | No |
TOPMed gnomAD |
|
rs2128593134 | 1784 | Y>F | No | Ensembl | |
rs2128593139 | 1784 | Y>H | No | Ensembl | |
rs2128593139 | 1784 | Y>N | No | Ensembl | |
rs2128593127 | 1785 | I>F | No | Ensembl | |
rs2128593115 | 1785 | I>M | No | Ensembl | |
rs2128593122 | 1785 | I>N | No | Ensembl | |
rs2128593127 | 1785 | I>V | No | Ensembl | |
rs2128593107 | 1786 | L>F | No | Ensembl | |
rs2128593101 | 1786 | L>H | No | Ensembl | |
rs2128593107 | 1786 | L>I | No | Ensembl | |
rs2128593101 | 1786 | L>P | No | Ensembl | |
rs2128593107 | 1786 | L>V | No | Ensembl | |
rs945272881 | 1787 | E>* | No | Ensembl | |
rs777247123 | 1787 | E>D | No |
ExAC gnomAD |
|
rs2128593070 | 1787 | E>G | No | Ensembl | |
rs945272881 | 1787 | E>K | No | Ensembl | |
rs945272881 | 1787 | E>Q | No | Ensembl | |
rs2128593070 | 1787 | E>V | No | Ensembl | |
rs769355146 | 1788 | I>L | No |
ExAC TOPMed gnomAD |
|
rs760826500 | 1788 | I>T | No |
ExAC gnomAD |
|
rs769355146 | 1788 | I>V | No |
ExAC TOPMed gnomAD |
|
rs2128593045 | 1789 | R>* | No | Ensembl | |
rs2128593036 | 1789 | R>I | No | Ensembl | |
rs2128593036 | 1789 | R>K | No | Ensembl | |
rs2128582393 | 1789 | R>S | No | Ensembl | |
rs2128593036 | 1789 | R>T | No | Ensembl | |
rs768131640 | 1790 | K>* | No |
ExAC gnomAD |
|
rs2128582378 | 1790 | K>M | No | Ensembl | |
rs2128582375 | 1790 | K>N | No | Ensembl | |
rs768131640 | 1790 | K>Q | No |
ExAC gnomAD |
|
rs2128582371 | 1791 | S>C | No | Ensembl | |
rs759533205 | 1791 | S>I | No |
ExAC gnomAD |
|
rs759533205 | 1791 | S>N | No |
ExAC gnomAD |
|
rs2128582360 | 1791 | S>R | No | Ensembl | |
rs759533205 | 1791 | S>T | No |
ExAC gnomAD |
|
rs2128582354 | 1792 | T>A | No | Ensembl | |
rs2128582354 | 1792 | T>S | No | Ensembl | |
rs2128582340 | 1793 | S>* | No | Ensembl | |
rs2128582340 | 1793 | S>L | No | Ensembl | |
rs2128582348 | 1793 | S>T | No | Ensembl | |
rs1461762268 | 1794 | N>D | No |
TOPMed gnomAD |
|
rs2128582324 | 1794 | N>K | No | Ensembl | |
rs774351357 | 1794 | N>T | No |
ExAC gnomAD |
|
rs1461762268 | 1794 | N>Y | No |
TOPMed gnomAD |
|
rs1191704312 | 1795 | N>H | No | gnomAD | |
rs2128582311 | 1795 | N>K | No | Ensembl | |
rs1191704312 | 1795 | N>Y | No | gnomAD | |
rs2128582300 | 1796 | L>* | No | Ensembl | |
rs766461873 | 1796 | L>I | No |
ExAC TOPMed gnomAD |
|
rs766461873 | 1796 | L>V | No |
ExAC TOPMed gnomAD |
|
COSM1663951 COSM1663953 rs2128582297 COSM1663952 |
1797 | Q>* | kidney [Cosmic] | No |
cosmic curated Ensembl |
rs2128582297 | 1797 | Q>E | No | Ensembl | |
COSM4869092 COSM1072539 COSM1072541 rs2128582294 |
1797 | Q>H | endometrium Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated Ensembl NCI-TCGA Cosmic |
rs2128582285 | 1798 | N>I | No | Ensembl | |
rs2128582283 | 1798 | N>K | No | Ensembl | |
rs2128582285 | 1798 | N>S | No | Ensembl | |
rs2128582291 | 1798 | N>Y | No | Ensembl | |
rs2128582278 | 1799 | Q>* | No | Ensembl | |
rs2128582278 | 1799 | Q>E | No | Ensembl | |
rs2128582274 | 1799 | Q>H | No | Ensembl | |
rs2128582278 | 1799 | Q>K | No | Ensembl | |
rs763113386 | 1800 | N>D | No |
ExAC gnomAD |
|
rs2128582267 | 1800 | N>I | No | Ensembl | |
COSM3857790 COSM3857789 |
1800 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2128582255 | 1801 | L>* | No | Ensembl | |
rs2128582260 | 1801 | L>I | No | Ensembl | |
rs2128582249 | 1802 | R>G | No | Ensembl | |
rs2128582242 | 1802 | R>S | No | Ensembl | |
rs1385575949 | 1802 | R>T | No |
TOPMed gnomAD |
|
rs2128582249 | 1802 | R>W | No | Ensembl | |
rs2128582229 | 1803 | W>* | No | Ensembl | |
rs2128582219 | 1803 | W>* | No | Ensembl | |
rs2128582219 | 1803 | W>C | No | Ensembl | |
rs2128582229 | 1803 | W>L | No | Ensembl | |
rs2128582238 | 1803 | W>R | No | Ensembl | |
rs2128582229 | 1803 | W>S | No | Ensembl | |
rs2128582212 | 1804 | K>M | No | Ensembl | |
COSM4863626 COSM1072538 rs2128582209 COSM1072536 |
1804 | K>N | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
cosmic curated Ensembl NCI-TCGA Cosmic |
rs2128582192 | 1805 | M>I | No | Ensembl | |
rs2128582200 | 1805 | M>K | No | Ensembl | |
rs2128582208 | 1805 | M>L | No | Ensembl | |
rs2128582200 | 1805 | M>T | No | Ensembl | |
rs538540508 | 1806 | T>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs768305668 | 1806 | T>I | No |
ExAC gnomAD |
|
rs768305668 | 1806 | T>R | No |
ExAC gnomAD |
|
rs538540508 | 1806 | T>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs376765085 | 1807 | F>I | No |
ESP ExAC gnomAD |
|
rs376765085 | 1807 | F>L | No |
ESP ExAC gnomAD |
|
rs2128582171 | 1807 | F>L | No | Ensembl | |
rs2128582176 | 1807 | F>Y | No | Ensembl | |
rs2128582169 | 1808 | N>I | No | Ensembl | |
rs1337334412 | 1808 | N>K | No | gnomAD | |
rs2128582169 | 1808 | N>S | No | Ensembl | |
rs2128582160 | 1809 | G>* | No | Ensembl | |
rs1776645074 | 1809 | G>A | No | TOPMed | |
rs1776645074 | 1809 | G>E | No | TOPMed | |
rs2128582160 | 1809 | G>R | No | Ensembl | |
rs1776645074 | 1809 | G>V | No | TOPMed | |
rs1256569613 | 1810 | S>C | No |
TOPMed gnomAD |
|
COSM139667 COSM3619826 rs1256569613 |
1810 | S>F | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs1776644896 | 1810 | S>P | No | TOPMed | |
rs1776644896 | 1810 | S>T | No | TOPMed | |
rs1256569613 | 1810 | S>Y | No |
TOPMed gnomAD |
|
rs775276256 | 1811 | C>* | No |
ExAC gnomAD |
|
rs1776644440 | 1811 | C>F | No | TOPMed | |
rs1776644609 | 1811 | C>R | No | gnomAD | |
rs1776644440 | 1811 | C>S | No | TOPMed | |
rs1776644609 | 1811 | C>S | No | gnomAD | |
rs775276256 | 1811 | C>W | No |
ExAC gnomAD |
|
rs981579627 | 1812 | S>C | No |
TOPMed gnomAD |
|
rs981579627 | 1812 | S>G | No |
TOPMed gnomAD |
|
rs2128582105 | 1812 | S>N | No | Ensembl | |
rs1776643916 | 1812 | S>R | No | Ensembl | |
rs981579627 | 1812 | S>R | No |
TOPMed gnomAD |
|
rs2128582105 | 1812 | S>T | No | Ensembl | |
rs2128582097 | 1813 | S>C | No | Ensembl | |
rs2128582097 | 1813 | S>G | No | Ensembl | |
rs1562274440 | 1813 | S>R | No | Ensembl | |
rs2128582094 | 1813 | S>T | No | Ensembl | |
rs2128582077 | 1814 | V>A | No | Ensembl | |
rs2128582077 | 1814 | V>D | No | Ensembl | |
rs2128582080 | 1814 | V>F | No | Ensembl | |
rs2128582080 | 1814 | V>I | No | Ensembl | |
rs2128582080 | 1814 | V>L | No | Ensembl | |
rs2128582056 | 1815 | C>* | No | Ensembl | |
rs2128582066 | 1815 | C>R | No | Ensembl | |
rs374557840 | 1815 | C>S | No |
ESP ExAC TOPMed gnomAD |
|
rs2128582066 | 1815 | C>S | No | Ensembl | |
rs2128582056 | 1815 | C>W | No | Ensembl | |
rs139756894 | 1816 | T>I | No |
ESP ExAC TOPMed |
|
rs139756894 | 1816 | T>K | No |
ESP ExAC TOPMed |
|
rs745796221 | 1816 | T>P | No |
ExAC TOPMed gnomAD |
|
rs139756894 | 1816 | T>R | No |
ESP ExAC TOPMed |
|
rs745796221 | 1816 | T>S | No |
ExAC TOPMed gnomAD |
|
COSM4875583 COSM1697822 COSM1697821 COSM1072533 rs1441561770 COSM1072535 |
1817 | W>* | Variant assessed as Somatic; HIGH impact. skin endometrium [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD |
COSM1697822 rs1325118655 COSM1697821 COSM1072533 COSM1072535 |
1817 | W>* | Variant assessed as Somatic; HIGH impact. endometrium skin [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs1441561770 | 1817 | W>C | No | gnomAD | |
rs1364957975 | 1817 | W>R | No | gnomAD | |
rs1325118655 | 1817 | W>S | No | gnomAD | |
rs2128582022 | 1818 | K>M | No | Ensembl | |
rs2128582020 | 1818 | K>N | No | Ensembl | |
rs1444793816 | 1819 | S>C | No |
TOPMed gnomAD |
|
rs1444793816 | 1819 | S>F | No |
TOPMed gnomAD |
|
rs2128582013 | 1819 | S>P | No | Ensembl | |
rs2128582013 | 1819 | S>T | No | Ensembl | |
rs1444793816 | 1819 | S>Y | No |
TOPMed gnomAD |
|
rs2128581993 | 1820 | K>I | No | Ensembl | |
rs2128581993 | 1820 | K>R | No | Ensembl | |
rs571578275 | 1821 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes NCI-TCGA gnomAD |
rs916060109 | 1821 | N>I | No | Ensembl | |
rs916060109 | 1821 | N>S | No | Ensembl | |
rs916060109 | 1821 | N>T | No | Ensembl | |
COSM1440053 COSM5140753 |
1821 | N>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel rs2128581956 |
1822 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs2128581950 | 1822 | L>P | No | Ensembl | |
rs2128581950 | 1822 | L>Q | No | Ensembl | |
rs2128581956 | 1822 | L>V | No | Ensembl | |
rs2128581938 | 1823 | K>* | No | Ensembl | |
rs756847163 | 1823 | K>N | No |
ExAC gnomAD |
|
rs1776641070 | 1824 | G>A | No | Ensembl | |
rs1776641070 | 1824 | G>E | No | Ensembl | |
rs2128581929 | 1824 | G>R | No | Ensembl | |
rs1776641070 | 1824 | G>V | No | Ensembl | |
rs2128581903 | 1825 | I>K | No | Ensembl | |
rs199815114 | 1825 | I>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs991660668 | 1825 | I>V | No |
TOPMed gnomAD |
|
COSM272180 rs2128581888 COSM272179 |
1826 | F>L | large_intestine Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated Ensembl NCI-TCGA Cosmic |
rs1172893180 | 1826 | F>S | No | gnomAD | |
rs1172893180 | 1826 | F>Y | No | gnomAD | |
rs867760368 | 1827 | Q>* | No | Ensembl | |
rs867760368 | 1827 | Q>E | No | Ensembl | |
rs1562274313 | 1827 | Q>H | No | Ensembl | |
rs867760368 | 1827 | Q>K | No | Ensembl | |
rs1202977274 | 1827 | Q>L | No | gnomAD | |
rs1202977274 | 1827 | Q>R | No | gnomAD | |
rs2128581860 | 1828 | F>I | No | Ensembl | |
rs2128581848 | 1828 | F>L | No | Ensembl | |
rs2128581860 | 1828 | F>L | No | Ensembl | |
rs2128581860 | 1828 | F>V | No | Ensembl | |
rs2128581856 | 1828 | F>Y | No | Ensembl | |
rs2128581842 | 1829 | R>* | No | Ensembl | |
rs2128581842 | 1829 | R>G | No | Ensembl | |
rs2128581835 | 1829 | R>I | No | Ensembl | |
TCGA novel | 1829 | R>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2128581835 | 1829 | R>K | No | Ensembl | |
TCGA novel rs2128581835 |
1829 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs2128581817 | 1830 | V>E | No | Ensembl | |
rs2128581817 | 1830 | V>G | No | Ensembl | |
rs1263855825 | 1830 | V>I | No | TOPMed | |
rs1263855825 | 1830 | V>L | No | TOPMed | |
rs1266780413 | 1831 | V>A | No | gnomAD | |
rs1266780413 | 1831 | V>E | No | gnomAD | |
rs777604573 | 1831 | V>I | No |
ExAC TOPMed gnomAD |
|
rs777604573 | 1831 | V>L | No |
ExAC TOPMed gnomAD |
|
rs2128581783 | 1832 | A>D | No | Ensembl | |
rs2128581783 | 1832 | A>G | No | Ensembl | |
rs2128581791 | 1832 | A>P | No | Ensembl | |
rs2128581791 | 1832 | A>S | No | Ensembl | |
rs2128581791 | 1832 | A>T | No | Ensembl | |
rs2128581783 | 1832 | A>V | No | Ensembl | |
rs1017229529 | 1833 | A>E | No | gnomAD | |
rs1017229529 | 1833 | A>G | No | gnomAD | |
rs2128581772 | 1833 | A>P | No | Ensembl | |
rs2128581772 | 1833 | A>T | No | Ensembl | |
rs1017229529 | 1833 | A>V | No | gnomAD | |
rs2128581765 | 1834 | N>K | No | Ensembl | |
rs1562274270 | 1834 | N>S | No | Ensembl | |
rs2128581759 | 1835 | N>I | No | Ensembl | |
rs2128581758 | 1835 | N>K | No | Ensembl | |
rs2128581751 | 1836 | L>Q | No | Ensembl | |
rs2128581755 | 1836 | L>V | No | Ensembl | |
rs2128581733 | 1837 | G>A | No | Ensembl | |
rs2128581733 | 1837 | G>E | No | Ensembl | |
rs2128581744 | 1837 | G>R | No | Ensembl | |
rs2128581733 | 1837 | G>V | No | Ensembl | |
TCGA novel rs2128581744 |
1837 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs2128581719 | 1838 | F>I | No | Ensembl | |
rs2128581719 | 1838 | F>L | No | Ensembl | |
rs753176603 | 1838 | F>L | No |
ExAC gnomAD |
|
rs2128581719 | 1838 | F>V | No | Ensembl | |
rs2128581713 | 1838 | F>Y | No | Ensembl | |
rs2128581702 | 1839 | G>A | No | Ensembl | |
rs147253951 | 1839 | G>C | No |
ESP ExAC gnomAD |
|
rs2128581702 | 1839 | G>D | No | Ensembl | |
rs2128581702 | 1839 | G>V | No | Ensembl | |
COSM1072530 rs2128581694 COSM1072532 COSM4865525 |
1840 | E>* | Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic Ensembl |
rs2128581694 | 1840 | E>K | No | Ensembl | |
rs377348361 | 1841 | Y>* | No |
ESP ExAC TOPMed gnomAD |
|
rs755458230 | 1841 | Y>C | No |
ExAC gnomAD |
|
rs2128581691 | 1841 | Y>D | No | Ensembl | |
rs755458230 | 1841 | Y>F | No |
ExAC gnomAD |
|
rs2128581691 | 1841 | Y>N | No | Ensembl | |
rs1776638145 | 1842 | S>C | No | TOPMed | |
rs1776638145 | 1842 | S>G | No | TOPMed | |
rs1229224998 | 1842 | S>N | No | gnomAD | |
rs766406712 | 1842 | S>R | No |
ExAC gnomAD |
|
rs1229224998 | 1842 | S>T | No | gnomAD | |
rs2128581669 | 1843 | G>* | No | Ensembl | |
rs2128581663 | 1843 | G>A | No | Ensembl | |
COSM4394786 COSM4394787 rs2128581669 |
1843 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs2128581660 | 1844 | I>L | No | Ensembl | |
rs2128581647 | 1844 | I>M | No | Ensembl | |
rs2128581654 | 1844 | I>N | No | Ensembl | |
rs2128581654 | 1844 | I>S | No | Ensembl | |
rs2128581660 | 1844 | I>V | No | Ensembl | |
rs1163897006 | 1845 | S>C | No |
TOPMed gnomAD |
|
rs1163897006 | 1845 | S>G | No |
TOPMed gnomAD |
|
rs2128581636 | 1845 | S>I | No | Ensembl | |
rs2128581636 | 1845 | S>N | No | Ensembl | |
rs2128581633 | 1845 | S>R | No | Ensembl | |
rs1163897006 | 1845 | S>R | No |
TOPMed gnomAD |
|
rs2128581636 | 1845 | S>T | No | Ensembl | |
rs763061412 | 1846 | E>G | No |
ExAC gnomAD |
|
rs2128581629 | 1846 | E>K | No | Ensembl | |
rs2128581629 | 1846 | E>Q | No | Ensembl | |
rs2128581615 | 1847 | N>K | No | Ensembl | |
rs2128581623 | 1847 | N>Y | No | Ensembl | |
rs765553432 | 1848 | I>F | No |
ExAC gnomAD |
|
rs765553432 | 1848 | I>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs2128581605 | 1848 | I>N | No | Ensembl | |
rs2128581605 | 1848 | I>T | No | Ensembl | |
rs765553432 | 1848 | I>V | No |
ExAC gnomAD |
|
rs2128581593 | 1849 | I>K | No | Ensembl | |
rs1329285758 | 1849 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs143846827 | 1849 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
rs1399029201 | 1850 | L>* | No |
TOPMed gnomAD |
|
rs1390601271 | 1850 | L>F | No | gnomAD | |
rs2128581574 | 1851 | V>D | No | Ensembl | |
rs2128581577 | 1851 | V>F | No | Ensembl | |
rs2128581577 | 1851 | V>I | No | Ensembl | |
rs2128581577 | 1851 | V>L | No | Ensembl | |
rs1776636276 | 1852 | G>* | No | Ensembl | |
rs2128581568 | 1852 | G>A | No | Ensembl | |
rs2128581568 | 1852 | G>E | No | Ensembl | |
rs1776636276 | 1852 | G>R | No | Ensembl | |
rs2128581568 | 1852 | G>V | No | Ensembl | |
rs138265888 | 1853 | D>A | No |
ESP ExAC TOPMed gnomAD |
|
rs1776495123 | 1853 | D>E | No | Ensembl | |
rs138265888 | 1853 | D>G | No |
ESP ExAC TOPMed gnomAD |
|
rs1776636107 | 1853 | D>H | No | Ensembl | |
rs1776636107 | 1853 | D>N | No | Ensembl | |
rs1776636107 | 1853 | D>Y | No | Ensembl | |
TCGA novel rs192321490 |
1854 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD NCI-TCGA |
rs1158436866 | 1854 | D>G | No | gnomAD | |
rs1776494978 | 1854 | D>H | No |
TOPMed gnomAD |
|
rs1776494978 | 1854 | D>N | No |
TOPMed gnomAD |
|
rs1158436866 | 1854 | D>V | No | gnomAD | |
rs1776494978 | 1854 | D>Y | No |
TOPMed gnomAD |
|
TCGA novel rs2128575146 |
1855 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs2128575152 | 1855 | F>S | No | Ensembl | |
rs1776494361 | 1855 | F>V | No | gnomAD | |
rs2128575133 | 1856 | W>* | No | Ensembl | |
rs2128575133 | 1856 | W>C | No | Ensembl | |
rs2128575139 | 1856 | W>G | No | Ensembl | |
rs2128575139 | 1856 | W>R | No | Ensembl | |
rs1776493978 | 1857 | I>K | No | TOPMed | |
rs2128575129 | 1857 | I>M | No | Ensembl | |
rs1776493791 | 1858 | P>A | No | Ensembl | |
rs1185894476 | 1858 | P>L | No | gnomAD | |
rs1185894476 | 1858 | P>R | No | gnomAD | |
rs1776493791 | 1858 | P>S | No | Ensembl | |
COSM4946245 COSM1568110 COSM1568111 rs1776493791 |
1858 | P>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic Ensembl |
rs2128575102 | 1859 | E>D | No | Ensembl | |
rs1366078744 | 1859 | E>G | No | gnomAD | |
rs2128575114 | 1859 | E>K | No | Ensembl | |
rs2128575114 | 1859 | E>Q | No | Ensembl | |
rs1366078744 | 1859 | E>V | No | gnomAD | |
rs1256328685 | 1860 | T>I | No | gnomAD | |
rs1423646118 | 1860 | T>P | No | gnomAD | |
rs1256328685 | 1860 | T>R | No | gnomAD | |
rs1423646118 | 1860 | T>S | No | gnomAD | |
rs774405508 | 1861 | S>C | No |
ExAC gnomAD |
|
rs774405508 | 1861 | S>G | No |
ExAC gnomAD |
|
rs2128575084 | 1861 | S>I | No | Ensembl | |
rs2128575084 | 1861 | S>N | No | Ensembl | |
rs2128575078 | 1861 | S>R | No | Ensembl | |
rs2128575084 | 1861 | S>T | No | Ensembl | |
rs2128575076 | 1862 | F>I | No | Ensembl | |
rs1299626570 | 1862 | F>L | No | TOPMed | |
rs2128575067 | 1862 | F>S | No | Ensembl | |
rs2128575067 | 1862 | F>Y | No | Ensembl | |
rs2128575049 | 1863 | I>K | No | Ensembl | |
rs771062502 | 1863 | I>L | No |
ExAC TOPMed gnomAD |
|
rs2128575045 | 1863 | I>M | No | Ensembl | |
rs2128575049 | 1863 | I>T | No | Ensembl | |
rs771062502 | 1863 | I>V | No |
ExAC TOPMed gnomAD |
|
rs762992946 | 1864 | L>F | No |
ExAC gnomAD |
|
rs2128575030 | 1864 | L>H | No | 1000Genomes | |
rs762992946 | 1864 | L>I | No |
ExAC gnomAD |
|
TCGA novel rs2128575030 |
1864 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA 1000Genomes |
rs762992946 | 1864 | L>V | No |
ExAC gnomAD |
|
rs772723253 | 1865 | T>A | No |
ExAC gnomAD |
|
rs373534757 COSM1568113 COSM4946293 COSM1568112 |
1865 | T>I | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic ESP ExAC TOPMed gnomAD |
rs373534757 | 1865 | T>S | No |
ESP ExAC TOPMed gnomAD |
|
rs2128575006 | 1866 | I>F | No | Ensembl | |
rs1281863309 | 1867 | I>T | No |
TOPMed gnomAD |
|
rs1357854573 | 1868 | V>A | No | TOPMed | |
rs1357854573 | 1868 | V>D | No | TOPMed | |
rs2128574993 | 1868 | V>F | No | Ensembl | |
rs2128574993 | 1868 | V>I | No | Ensembl | |
rs2128574993 | 1868 | V>L | No | Ensembl | |
rs747799388 | 1869 | G>A | No |
ExAC gnomAD |
|
rs747799388 | 1869 | G>E | No |
ExAC gnomAD |
|
rs1246573918 | 1869 | G>R | No | TOPMed | |
rs747799388 | 1869 | G>V | No |
ExAC gnomAD |
|
rs2128574958 | 1870 | I>K | No | Ensembl | |
rs2128574965 | 1870 | I>L | No | Ensembl | |
rs2128574953 | 1870 | I>M | No | Ensembl | |
rs2128574958 | 1870 | I>R | No | Ensembl | |
rs2128574958 | 1870 | I>T | No | Ensembl | |
rs2128574947 | 1871 | F>L | No | Ensembl | |
rs1354660665 | 1871 | F>L | No | gnomAD | |
rs1354660665 | 1871 | F>V | No | gnomAD | |
rs2128574936 | 1872 | L>P | No | Ensembl | |
rs2128574936 | 1872 | L>Q | No | Ensembl | |
rs2128574941 | 1872 | L>V | No | Ensembl | |
rs1416865807 | 1873 | V>F | No | gnomAD | |
rs1416865807 | 1873 | V>I | No | gnomAD | |
rs1416865807 | 1873 | V>L | No | gnomAD | |
rs2128574910 | 1874 | V>A | No | Ensembl | |
rs2128574910 | 1874 | V>D | No | Ensembl | |
rs2128574910 | 1874 | V>G | No | Ensembl | |
rs2128574918 | 1874 | V>I | No | Ensembl | |
rs2128574918 | 1874 | V>L | No | Ensembl | |
rs1338433823 | 1875 | T>I | No | gnomAD | |
rs1338433823 | 1875 | T>R | No | gnomAD | |
rs1317756919 | 1876 | I>F | No | gnomAD | |
rs1317756919 | 1876 | I>L | No | gnomAD | |
rs768985780 | 1876 | I>M | No |
ExAC gnomAD |
|
rs2128574885 | 1876 | I>N | No | Ensembl | |
rs1317756919 | 1876 | I>V | No | gnomAD | |
rs147114498 | 1877 | P>A | No |
ESP TOPMed gnomAD |
|
rs2128574874 | 1877 | P>L | No | Ensembl | |
rs2128574874 | 1877 | P>Q | No | Ensembl | |
rs2128574874 | 1877 | P>R | No | Ensembl | |
rs147114498 | 1877 | P>S | No |
ESP TOPMed gnomAD |
|
rs147114498 | 1877 | P>T | No |
ESP TOPMed gnomAD |
|
rs2128574861 | 1878 | L>P | No | Ensembl | |
rs2128574861 | 1878 | L>Q | No | Ensembl | |
rs2128574864 | 1878 | L>V | No | Ensembl | |
rs1365189835 | 1879 | T>I | No | gnomAD | |
rs1365189835 | 1879 | T>N | No | gnomAD | |
rs1365189835 | 1879 | T>S | No | gnomAD | |
rs2128574852 | 1879 | T>S | No | Ensembl | |
rs2128574837 | 1880 | F>I | No | Ensembl | |
rs2128574837 | 1880 | F>L | No | Ensembl | |
rs2128574830 | 1880 | F>L | No | Ensembl | |
rs2128574836 | 1880 | F>S | No | Ensembl | |
rs2128574836 | 1880 | F>Y | No | Ensembl | |
rs2128563736 | 1881 | V>D | No | Ensembl | |
rs2128574826 | 1881 | V>F | No | Ensembl | |
rs2128574826 | 1881 | V>I | No | Ensembl | |
rs2128574826 | 1881 | V>L | No | Ensembl | |
rs2128563722 | 1882 | W>* | No | Ensembl | |
rs779681565 | 1882 | W>* | No | Ensembl | |
rs779681565 | 1882 | W>C | No | Ensembl | |
rs2128563722 | 1882 | W>L | No | Ensembl | |
rs2128563728 | 1882 | W>R | No | Ensembl | |
rs2128563722 | 1882 | W>S | No | Ensembl | |
TCGA novel | 1883 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs368278112 | 1883 | H>Q | No |
ESP ExAC gnomAD |
|
rs768363603 | 1883 | H>R | No |
ExAC TOPMed gnomAD |
|
rs867259158 | 1884 | R>* | No | Ensembl | |
rs867259158 | 1884 | R>G | No | Ensembl | |
rs2128563706 COSM360222 COSM360221 |
1884 | R>I | lung [Cosmic] | No |
cosmic curated Ensembl |
rs2128563706 COSM1697819 COSM1697820 |
1884 | R>K | skin [Cosmic] | No |
cosmic curated Ensembl |
rs1776281708 | 1884 | R>S | No | gnomAD | |
rs2128563706 | 1884 | R>T | No | Ensembl | |
rs2128563694 | 1885 | R>* | No | Ensembl | |
rs2128563691 | 1885 | R>I | No | Ensembl | |
rs2128563691 | 1885 | R>K | No | Ensembl | |
rs2128563691 | 1885 | R>T | No | Ensembl | |
rs2128563680 | 1886 | L>* | No | Ensembl | |
rs531342025 | 1886 | L>F | No | Ensembl | |
rs2128563685 | 1886 | L>I | No | Ensembl | |
rs2128563669 | 1887 | K>M | No | Ensembl | |
rs2128563666 | 1887 | K>N | No | Ensembl | |
COSM1072527 COSM4870129 rs1243356301 COSM1072529 |
1887 | K>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs2128563660 | 1888 | N>D | No | Ensembl | |
rs2128563655 | 1888 | N>K | No | Ensembl | |
rs932526376 | 1888 | N>S | No | Ensembl | |
rs2128563660 | 1888 | N>Y | No | Ensembl | |
rs1191591961 | 1889 | Q>* | No | gnomAD | |
rs1191591961 | 1889 | Q>E | No | gnomAD | |
rs2128563638 | 1889 | Q>H | No | Ensembl | |
rs1191591961 | 1889 | Q>K | No | gnomAD | |
rs1015032434 | 1889 | Q>L | No | Ensembl | |
COSM1072524 rs1015032434 COSM1072526 COSM4876074 |
1889 | Q>P | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic Ensembl |
rs1015032434 | 1889 | Q>R | No | Ensembl | |
rs144529412 | 1890 | K>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
RCV000905994 rs144529412 |
1890 | K>E | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs772446253 | 1890 | K>I | No |
ExAC gnomAD |
|
rs2128563625 | 1890 | K>N | No | Ensembl | |
COSM1720289 rs772446253 COSM1720288 |
1890 | K>R | NS [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs1484121618 | 1891 | S>C | No |
TOPMed gnomAD |
|
rs1484121618 | 1891 | S>G | No |
TOPMed gnomAD |
|
rs1776279723 | 1891 | S>N | No | Ensembl | |
rs1215308837 | 1891 | S>R | No |
TOPMed gnomAD |
|
rs2128563611 | 1892 | A>D | No | Ensembl | |
rs2128563611 | 1892 | A>G | No | Ensembl | |
rs2128563619 | 1892 | A>P | No | Ensembl | |
rs2128563619 | 1892 | A>S | No | Ensembl | |
rs2128563619 | 1892 | A>T | No | Ensembl | |
rs2128563611 | 1892 | A>V | No | Ensembl | |
rs1776279132 | 1893 | K>M | No | TOPMed | |
rs1776278991 | 1893 | K>N | No | gnomAD | |
rs1776279132 | 1893 | K>R | No | TOPMed | |
rs2128563596 | 1894 | E>* | No | Ensembl | |
rs1562269193 COSM3857786 COSM3857785 |
1894 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA Cosmic |
rs2128563596 TCGA novel |
1894 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs2128563596 | 1894 | E>Q | No | Ensembl | |
rs2128563579 | 1895 | G>A | No | Ensembl | |
rs2128563579 | 1895 | G>E | No | Ensembl | |
rs1582613950 | 1895 | G>R | No | TOPMed | |
rs1582613950 | 1895 | G>W | No | TOPMed | |
rs1215395631 | 1896 | V>A | No | gnomAD | |
rs2128563569 | 1896 | V>M | No | Ensembl | |
rs2128563554 | 1897 | T>I | No | Ensembl | |
rs2128563554 | 1897 | T>R | No | Ensembl | |
rs1273188915 | 1898 | V>E | No | gnomAD | |
rs2128563543 TCGA novel |
1898 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
rs2128563543 | 1898 | V>M | No | Ensembl | |
rs2128563534 | 1899 | L>F | No | Ensembl | |
rs2128563529 | 1899 | L>H | No | Ensembl | |
rs2128563529 | 1899 | L>P | No | Ensembl | |
rs2128563534 | 1899 | L>V | No | Ensembl | |
rs2128563523 | 1900 | I>K | No | Ensembl | |
rs757333668 | 1900 | I>M | No |
ExAC gnomAD |
|
rs2128563523 | 1900 | I>R | No | Ensembl | |
rs2128563518 | 1901 | N>I | No | Ensembl | |
rs9489124 | 1902 | E>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1354382723 | 1902 | E>D | No | gnomAD | |
RCV000949726 VAR_030653 rs9489124 |
1902 | E>K | No |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs9489124 | 1902 | E>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2128563505 | 1902 | E>V | No | Ensembl | |
rs2128563494 | 1903 | D>A | No | Ensembl | |
rs2128563490 | 1903 | D>E | No | Ensembl | |
rs2128563494 | 1903 | D>G | No | Ensembl | |
rs2128563501 | 1903 | D>H | No | Ensembl | |
rs2128563501 | 1903 | D>N | No | Ensembl | |
rs2128563494 | 1903 | D>V | No | Ensembl | |
TCGA novel | 1903 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs752993568 | 1904 | K>* | No |
ExAC gnomAD |
|
rs752993568 | 1904 | K>E | No |
ExAC gnomAD |
|
rs2128563483 | 1904 | K>I | No | Ensembl | |
rs2128563480 | 1904 | K>N | No | Ensembl | |
rs2128563483 | 1904 | K>R | No | Ensembl | |
rs1776276302 | 1905 | E>D | No | Ensembl | |
rs1776276465 | 1905 | E>K | No | Ensembl | |
COSM4849994 rs1776276465 COSM4849995 |
1905 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs2128563471 | 1905 | E>V | No | Ensembl | |
rs2128563462 | 1906 | L>* | No | Ensembl | |
rs2128563456 | 1906 | L>F | No | Ensembl | |
rs2128563466 | 1906 | L>M | No | Ensembl | |
rs2128563462 | 1906 | L>S | No | Ensembl | |
rs2128563466 | 1906 | L>V | No | Ensembl | |
rs2128563462 | 1906 | L>W | No | Ensembl | |
rs2128563445 | 1907 | A>D | No | Ensembl | |
rs2128563445 | 1907 | A>G | No | Ensembl | |
rs1193401267 | 1907 | A>P | No |
TOPMed gnomAD |
|
TCGA novel rs1193401267 |
1907 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1193401267 | 1907 | A>T | No |
TOPMed gnomAD |
|
rs2128563445 | 1907 | A>V | No | Ensembl | |
rs900769132 | 1908 | E>* | No | Ensembl | |
rs1171222730 | 1908 | E>D | No |
TOPMed gnomAD |
|
rs1420974283 | 1908 | E>G | No | gnomAD | |
rs900769132 | 1908 | E>K | No | Ensembl | |
rs900769132 | 1908 | E>Q | No | Ensembl | |
rs1420974283 | 1908 | E>V | No | gnomAD | |
rs2128563414 | 1909 | L>P | No | Ensembl | |
rs2128563414 | 1909 | L>Q | No | Ensembl | |
rs2128563417 | 1909 | L>V | No | Ensembl | |
COSM1487168 rs750354810 COSM1487167 COSM4815175 |
1910 | R>* | Variant assessed as Somatic; HIGH impact. breast [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs750354810 | 1910 | R>G | No |
ExAC TOPMed gnomAD |
|
rs765146445 | 1910 | R>P | No |
ExAC gnomAD |
|
rs765146445 | 1910 | R>Q | No |
ExAC gnomAD |
|
rs1195494731 | 1911 | G>A | No | gnomAD | |
rs2128563388 | 1911 | G>C | No | Ensembl | |
rs1195494731 | 1911 | G>D | No | gnomAD | |
rs2128563388 | 1911 | G>R | No | Ensembl | |
rs2128563388 | 1911 | G>S | No | Ensembl | |
rs1195494731 | 1911 | G>V | No | gnomAD | |
rs761381751 | 1912 | L>P | No |
ExAC TOPMed gnomAD |
|
rs761381751 | 1912 | L>Q | No |
ExAC TOPMed gnomAD |
|
rs2128563376 | 1912 | L>V | No | Ensembl | |
rs1232097218 | 1913 | A>G | No | gnomAD | |
rs1225424758 | 1913 | A>P | No |
TOPMed gnomAD |
|
rs1225424758 | 1913 | A>S | No |
TOPMed gnomAD |
|
rs1225424758 | 1913 | A>T | No |
TOPMed gnomAD |
|
rs1206955918 | 1914 | A>D | No | Ensembl | |
rs1206955918 | 1914 | A>G | No | Ensembl | |
rs2128563348 | 1914 | A>P | No | Ensembl | |
rs2128563348 | 1914 | A>T | No | Ensembl | |
rs1206955918 | 1914 | A>V | No | Ensembl | |
rs759091073 | 1915 | G>* | No |
ExAC TOPMed gnomAD |
|
rs759091073 | 1915 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1776272603 | 1915 | G>V | No | TOPMed | |
rs1582613564 | 1916 | V>A | No | Ensembl | |
rs1582613564 | 1916 | V>E | No | Ensembl | |
rs1582613564 | 1916 | V>G | No | Ensembl | |
rs201309045 | 1916 | V>I | No | 1000Genomes | |
rs201309045 | 1916 | V>L | No | 1000Genomes | |
rs775152205 | 1917 | G>A | No |
ExAC gnomAD |
|
rs2128563292 | 1917 | G>C | No | Ensembl | |
rs775152205 | 1917 | G>D | No |
ExAC gnomAD |
|
rs2128563292 | 1917 | G>R | No | Ensembl | |
rs2128563292 | 1917 | G>S | No | Ensembl | |
rs775152205 | 1917 | G>V | No |
ExAC gnomAD |
|
rs1438069741 | 1918 | L>P | No |
TOPMed gnomAD |
|
rs1438069741 | 1918 | L>Q | No |
TOPMed gnomAD |
|
rs201816432 | 1918 | L>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2128563262 | 1919 | A>P | No | Ensembl | |
rs2128563262 | 1919 | A>S | No | Ensembl | |
rs2128563262 | 1919 | A>T | No | Ensembl | |
rs1348779301 | 1919 | A>V | No |
TOPMed gnomAD |
|
rs2128563248 | 1920 | N>H | No | Ensembl | |
rs2128563241 | 1920 | N>I | No | Ensembl | |
rs2128563241 | 1920 | N>S | No | Ensembl | |
rs2128563248 | 1920 | N>Y | No | Ensembl | |
rs2128563225 | 1921 | A>G | No | Ensembl | |
rs2128563230 | 1921 | A>P | No | Ensembl | |
rs2128563230 | 1921 | A>S | No | Ensembl | |
rs2128563230 | 1921 | A>T | No | Ensembl | |
rs2128563225 | 1921 | A>V | No | Ensembl | |
rs2128563211 | 1922 | C>F | No | Ensembl | |
rs2128563211 | 1922 | C>S | No | Ensembl | |
rs2128563217 | 1922 | C>S | No | Ensembl | |
rs1361114278 | 1922 | C>W | No | TOPMed | |
rs2128563211 | 1922 | C>Y | No | Ensembl | |
rs2128563199 | 1923 | Y>* | No | Ensembl | |
rs149066655 | 1923 | Y>C | No |
ESP TOPMed gnomAD |
|
rs149066655 | 1923 | Y>F | No |
ESP TOPMed gnomAD |
|
rs2128563206 | 1923 | Y>H | No | Ensembl | |
rs2128563206 | 1923 | Y>N | No | Ensembl | |
rs2128563192 | 1924 | A>G | No | Ensembl | |
rs952758019 | 1924 | A>S | No |
TOPMed gnomAD |
|
TCGA novel rs2128563192 |
1924 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs2128563185 | 1925 | I>K | No | Ensembl | |
rs2128563180 | 1925 | I>M | No | Ensembl | |
rs2128563185 | 1925 | I>R | No | Ensembl | |
rs144955662 | 1926 | H>D | No |
ESP ExAC TOPMed gnomAD |
|
rs771279875 | 1926 | H>L | No |
ExAC TOPMed gnomAD |
|
rs144955662 | 1926 | H>N | No |
ESP ExAC TOPMed gnomAD |
|
rs2128559202 | 1926 | H>Q | No | Ensembl | |
rs771279875 | 1926 | H>R | No |
ExAC TOPMed gnomAD |
|
rs144955662 | 1926 | H>Y | No |
ESP ExAC TOPMed gnomAD |
|
rs1776181305 | 1927 | T>I | No |
TOPMed gnomAD |
|
rs2128559200 | 1927 | T>P | No | Ensembl | |
rs1776181305 | 1927 | T>S | No |
TOPMed gnomAD |
|
rs2128559200 | 1927 | T>S | No | Ensembl | |
COSM202090 COSM202089 rs2128559187 |
1928 | L>F | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
rs2128559182 | 1928 | L>H | No | Ensembl | |
rs2128559187 | 1928 | L>I | No | Ensembl | |
rs2128559187 | 1928 | L>V | No | Ensembl | |
rs1420331738 | 1929 | P>A | No | gnomAD | |
rs2128559170 TCGA novel |
1929 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs2128559170 | 1929 | P>Q | No | Ensembl | |
rs2128559170 | 1929 | P>R | No | Ensembl | |
rs1420331738 | 1929 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1420331738 | 1929 | P>T | No | gnomAD | |
COSM4454781 COSM4454782 rs1467543506 |
1930 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
rs763424996 | 1930 | T>I | No |
ExAC gnomAD |
|
rs763424996 | 1930 | T>N | No |
ExAC gnomAD |
|
rs1467543506 | 1930 | T>P | No |
TOPMed gnomAD |
|
rs763424996 | 1930 | T>S | No |
ExAC gnomAD |
|
rs1467543506 | 1930 | T>S | No |
TOPMed gnomAD |
|
rs2128559146 | 1931 | Q>* | No | Ensembl | |
rs1776180125 | 1931 | Q>H | No | Ensembl | |
rs762415150 | 1932 | E>D | No |
ExAC gnomAD |
|
rs773843792 | 1932 | E>K | No |
ExAC gnomAD |
|
rs773843792 | 1932 | E>Q | No |
ExAC gnomAD |
|
rs776794430 | 1933 | E>D | No |
ExAC gnomAD |
|
rs2128559131 | 1933 | E>G | No | Ensembl | |
COSM3157686 COSM3157687 |
1933 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2128559131 | 1933 | E>V | No | Ensembl | |
rs2128559120 | 1934 | I>F | No | Ensembl | |
rs145318764 | 1934 | I>M | No |
ESP TOPMed gnomAD |
|
rs1562267809 | 1934 | I>N | No | Ensembl | |
rs1562267809 | 1934 | I>S | No | Ensembl | |
rs1562267809 | 1934 | I>T | No | Ensembl | |
rs2128559111 | 1935 | E>D | No | Ensembl | |
rs1266834243 | 1936 | N>I | No |
TOPMed gnomAD |
|
rs1266834243 | 1936 | N>S | No |
TOPMed gnomAD |
|
rs1266834243 | 1936 | N>T | No |
TOPMed gnomAD |
|
rs2128559108 | 1936 | N>Y | No | Ensembl | |
rs2128559097 | 1937 | L>F | No | Ensembl | |
rs2128559091 | 1937 | L>H | No | Ensembl | |
rs2128559091 | 1937 | L>P | No | Ensembl | |
rs2128559097 | 1937 | L>V | No | Ensembl | |
rs2128559085 | 1938 | P>A | No | Ensembl | |
rs2128559082 | 1938 | P>H | No | Ensembl | |
rs2128559082 | 1938 | P>L | No | Ensembl | |
rs2128559082 | 1938 | P>R | No | Ensembl | |
rs2128559085 | 1938 | P>S | No | Ensembl | |
rs747157273 | 1939 | A>D | No |
ExAC TOPMed gnomAD |
|
rs747157273 | 1939 | A>G | No |
ExAC TOPMed gnomAD |
|
rs2128559075 | 1939 | A>P | No | Ensembl | |
rs2128559075 | 1939 | A>S | No | Ensembl | |
rs2128559075 | 1939 | A>T | No | Ensembl | |
rs747157273 | 1939 | A>V | No |
ExAC TOPMed gnomAD |
|
rs2128559064 | 1940 | F>I | No | Ensembl | |
rs2128559064 | 1940 | F>L | No | Ensembl | |
rs2128559060 | 1941 | P>A | No | Ensembl | |
rs1306349293 | 1941 | P>L | No | gnomAD | |
rs2128559060 | 1941 | P>S | No | Ensembl | |
rs2128559060 | 1941 | P>T | No | Ensembl | |
rs370269692 | 1942 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
COSM739505 COSM739504 COSM1647879 rs1562267726 |
1942 | R>L | lung [Cosmic] | No |
cosmic curated Ensembl |
rs1562267726 | 1942 | R>P | No | Ensembl | |
rs1562267726 | 1942 | R>Q | No | Ensembl | |
rs370269692 | 1942 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
rs2128559025 | 1943 | E>D | No | Ensembl | |
COSM3619825 rs866970127 COSM3619824 |
1943 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
rs376207197 | 1944 | K>E | No |
ESP ExAC gnomAD |
|
rs2128559020 | 1944 | K>I | No | Ensembl | |
rs2128559016 | 1944 | K>N | No | Ensembl | |
COSM1440049 COSM4783524 COSM1440048 rs2128559013 |
1945 | L>P | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic Ensembl |
rs2128559013 | 1945 | L>Q | No | Ensembl | |
rs2128559008 | 1946 | T>A | No | Ensembl | |
rs2128559008 | 1946 | T>P | No | Ensembl | |
rs2128559008 | 1946 | T>S | No | Ensembl | |
rs2128559002 | 1946 | T>S | No | Ensembl | |
rs2128558996 | 1947 | L>V | No | Ensembl | |
rs777678761 | 1948 | R>C | No |
ExAC TOPMed gnomAD |
|
rs777678761 | 1948 | R>G | No |
ExAC TOPMed gnomAD |
|
rs140237260 | 1948 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs140237260 | 1948 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
rs777678761 | 1948 | R>S | No |
ExAC TOPMed gnomAD |
|
rs2128558980 COSM5922541 COSM5922542 |
1949 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs2128558972 | 1949 | L>H | No | Ensembl | |
rs2128558980 | 1949 | L>V | No | Ensembl | |
rs1776175234 | 1950 | L>F | No | Ensembl | |
rs1776175430 | 1950 | L>M | No | Ensembl | |
rs2128558962 | 1950 | L>S | No | Ensembl | |
COSM1072521 COSM1072523 rs2128558952 |
1951 | L>M | endometrium [Cosmic] | No |
cosmic curated Ensembl |
rs1776175069 | 1951 | L>P | No | TOPMed | |
rs1776175069 | 1951 | L>Q | No | TOPMed | |
rs1776175069 | 1951 | L>R | No | TOPMed | |
rs2128558952 | 1951 | L>V | No | Ensembl | |
rs2128558939 | 1952 | G>E | No | Ensembl | |
rs2128558941 | 1952 | G>R | No | Ensembl | |
rs1776174545 | 1953 | S>C | No | Ensembl | |
rs1776174545 | 1953 | S>G | No | Ensembl | |
rs2128558929 | 1953 | S>I | No | Ensembl | |
rs2128558929 | 1953 | S>N | No | Ensembl | |
rs2128558923 | 1953 | S>R | No | Ensembl | |
rs2128558929 | 1953 | S>T | No | Ensembl | |
rs752657920 | 1954 | G>E | No |
ExAC gnomAD |
|
rs1776174228 | 1955 | A>D | No | TOPMed | |
rs1776174228 | 1955 | A>G | No | TOPMed | |
rs780532965 | 1955 | A>P | No |
ExAC gnomAD |
|
rs780532965 | 1955 | A>S | No |
ExAC gnomAD |
|
rs780532965 | 1955 | A>T | No |
ExAC gnomAD |
|
rs1776174228 | 1955 | A>V | No | TOPMed | |
rs2128558883 | 1956 | F>I | No | Ensembl | |
rs1207412705 | 1956 | F>L | No |
TOPMed gnomAD |
|
rs2128558878 | 1956 | F>Y | No | Ensembl | |
rs2128558870 | 1957 | G>* | No | Ensembl | |
rs2128558863 | 1957 | G>A | No | Ensembl | |
rs2128558863 | 1957 | G>E | No | Ensembl | |
rs2128558870 | 1957 | G>R | No | Ensembl | |
rs2128558863 | 1957 | G>V | No | Ensembl | |
rs986549979 | 1958 | E>* | No | TOPMed | |
rs2128558846 | 1958 | E>D | No | Ensembl | |
rs1776173488 | 1958 | E>G | No | Ensembl | |
rs986549979 | 1958 | E>K | No | TOPMed | |
rs986549979 | 1958 | E>Q | No | TOPMed | |
rs1776173488 | 1958 | E>V | No | Ensembl | |
rs2128558837 | 1959 | V>A | No | Ensembl | |
rs2128558837 | 1959 | V>E | No | Ensembl | |
rs2128558837 | 1959 | V>G | No | Ensembl | |
rs2128558841 | 1959 | V>L | No | Ensembl | |
rs2128558841 | 1959 | V>M | No | Ensembl | |
rs2128558828 | 1960 | Y>* | No | Ensembl | |
rs138420858 | 1960 | Y>C | No |
1000Genomes ExAC gnomAD |
|
rs2128558832 | 1960 | Y>D | No | Ensembl | |
rs138420858 | 1960 | Y>F | No |
1000Genomes ExAC gnomAD |
|
COSM4868810 COSM1072520 |
1960 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2128558832 | 1960 | Y>N | No | Ensembl | |
rs2128558824 | 1961 | E>* | No | Ensembl | |
rs2128558817 | 1961 | E>A | No | Ensembl | |
rs2128558810 | 1961 | E>D | No | Ensembl | |
rs2128558817 | 1961 | E>G | No | Ensembl | |
rs2128558824 | 1961 | E>K | No | Ensembl | |
rs2128558824 | 1961 | E>Q | No | Ensembl | |
rs2128558817 | 1961 | E>V | No | Ensembl | |
rs751153523 | 1962 | G>A | No |
ExAC TOPMed gnomAD |
|
rs751153523 | 1962 | G>E | No |
ExAC TOPMed gnomAD |
|
rs2128558804 | 1962 | G>R | No | Ensembl | |
rs751153523 | 1962 | G>V | No |
ExAC TOPMed gnomAD |
|
rs1455810428 | 1963 | T>I | No |
TOPMed gnomAD |
|
rs1455810428 | 1963 | T>K | No |
TOPMed gnomAD |
|
rs1455810428 | 1963 | T>R | No |
TOPMed gnomAD |
|
rs2128558791 | 1963 | T>S | No | Ensembl | |
rs2128558772 | 1964 | A>E | No | Ensembl | |
rs2128558772 | 1964 | A>G | No | Ensembl | |
rs766115237 | 1964 | A>P | No |
ExAC TOPMed gnomAD |
|
COSM284673 COSM284674 rs766115237 |
1964 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs2128558772 | 1964 | A>V | No | Ensembl | |
rs2128558758 | 1965 | V>A | No | Ensembl | |
rs2128558758 | 1965 | V>E | No | Ensembl | |
rs2128558764 | 1965 | V>L | No | Ensembl | |
rs2128558764 | 1965 | V>M | No | Ensembl | |
rs2128558739 | 1966 | D>E | No | Ensembl | |
rs2128558746 | 1966 | D>H | No | Ensembl | |
rs2128558746 | 1966 | D>N | No | Ensembl | |
rs2128558746 | 1966 | D>Y | No | Ensembl | |
rs765711132 | 1967 | I>F | No |
ExAC gnomAD |
|
rs2128558728 | 1967 | I>M | No | Ensembl | |
rs1486456431 | 1967 | I>N | No | TOPMed | |
rs765711132 | 1967 | I>V | No |
ExAC gnomAD |
|
rs2128558718 | 1968 | L>* | No | Ensembl | |
rs2128558727 | 1968 | L>I | No | Ensembl | |
rs1776170037 | 1969 | G>R | No | TOPMed | |
rs2128558707 | 1969 | G>V | No | Ensembl | |
rs371159504 | 1970 | V>A | No |
ESP ExAC TOPMed gnomAD |
|
rs371159504 | 1970 | V>D | No |
ESP ExAC TOPMed gnomAD |
|
rs371159504 | 1970 | V>G | No |
ESP ExAC TOPMed gnomAD |
|
rs2128558700 | 1970 | V>I | No | Ensembl | |
rs2128558700 | 1970 | V>L | No | Ensembl | |
rs2128558680 | 1971 | G>A | No | Ensembl | |
rs2128558680 | 1971 | G>E | No | Ensembl | |
rs760855335 | 1971 | G>R | No |
ExAC TOPMed gnomAD |
|
rs2128558680 | 1971 | G>V | No | Ensembl | |
rs2128558671 | 1972 | S>C | No | Ensembl | |
rs2128558671 | 1972 | S>G | No | Ensembl | |
rs1332539257 | 1972 | S>I | No | gnomAD | |
rs1332539257 | 1972 | S>N | No | gnomAD | |
rs2128558658 | 1972 | S>R | No | Ensembl | |
rs1332539257 | 1972 | S>T | No | gnomAD | |
rs1216964547 | 1973 | G>* | No | Ensembl | |
rs2128558644 | 1973 | G>A | No | Ensembl | |
rs2128558644 | 1973 | G>E | No | Ensembl | |
rs1216964547 | 1973 | G>R | No | Ensembl | |
rs2128558644 | 1973 | G>V | No | Ensembl | |
rs2128558637 | 1974 | E>G | No | Ensembl | |
COSM3857782 COSM3857781 |
1974 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs146653150 | 1975 | I>M | No |
ESP ExAC TOPMed gnomAD |
|
rs1776167165 | 1975 | I>V | No | Ensembl | |
rs2128558615 | 1976 | K>E | No | Ensembl | |
rs2128558612 | 1976 | K>I | No | Ensembl | |
rs2128558612 | 1976 | K>T | No | Ensembl | |
rs145889490 | 1977 | V>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs145889490 | 1977 | V>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2128558588 | 1978 | A>E | No | Ensembl | |
rs2128558588 | 1978 | A>G | No | Ensembl | |
rs1373810021 | 1978 | A>P | No | TOPMed | |
rs1373810021 | 1978 | A>T | No | TOPMed | |
rs2128558588 | 1978 | A>V | No | Ensembl | |
rs2128558575 | 1979 | V>E | No | Ensembl | |
rs2128558575 | 1979 | V>G | No | Ensembl | |
rs2128558582 | 1979 | V>L | No | Ensembl | |
rs2128558582 | 1979 | V>M | No | Ensembl | |
rs377281534 | 1980 | K>E | No |
ESP ExAC TOPMed gnomAD |
|
rs1432927530 | 1980 | K>M | No | gnomAD | |
rs2128558551 | 1980 | K>N | No | Ensembl | |
rs377281534 | 1980 | K>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs1432927530 | 1980 | K>R | No | gnomAD | |
rs994343717 | 1981 | T>I | No | Ensembl | |
rs768571352 | 1981 | T>P | No |
ExAC gnomAD |
|
COSM1440046 rs768571352 COSM1440047 |
1981 | T>S | large_intestine [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs994343717 COSM1440046 COSM1440047 |
1981 | T>S | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
rs2128556977 | 1982 | L>F | No | Ensembl | |
rs2128556974 | 1983 | K>N | No | Ensembl | |
rs2128556970 | 1984 | K>M | No | Ensembl | |
rs2128556967 | 1984 | K>N | No | Ensembl | |
rs2128556970 | 1984 | K>R | No | Ensembl | |
rs2128556963 | 1985 | G>C | No | Ensembl | |
rs2128556963 | 1985 | G>S | No | Ensembl | |
rs2128556954 | 1986 | S>C | No | Ensembl | |
rs2128556954 | 1986 | S>F | No | Ensembl | |
rs1776055528 | 1986 | S>T | No | TOPMed | |
rs2128556954 | 1986 | S>Y | No | Ensembl | |
rs746934594 | 1987 | T>A | No |
ExAC TOPMed gnomAD |
|
rs758011864 | 1987 | T>I | No |
ExAC TOPMed gnomAD |
|
rs758011864 | 1987 | T>K | No |
ExAC TOPMed gnomAD |
|
rs1776054678 | 1988 | D>E | No | TOPMed | |
rs745485549 | 1988 | D>G | No |
ExAC gnomAD |
|
rs2128556943 | 1988 | D>H | No | Ensembl | |
rs2128556943 | 1988 | D>N | No | Ensembl | |
rs745485549 | 1988 | D>V | No |
ExAC gnomAD |
|
rs2128556943 | 1988 | D>Y | No | Ensembl | |
rs1351039722 | 1989 | Q>* | No | gnomAD | |
rs1351039722 | 1989 | Q>E | No | gnomAD | |
rs139620900 | 1989 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
rs1351039722 | 1989 | Q>K | No | gnomAD | |
rs1776053836 | 1990 | E>* | No | Ensembl | |
rs2128556917 | 1990 | E>D | No | Ensembl | |
rs1776053836 | 1990 | E>K | No | Ensembl | |
rs1776053836 | 1990 | E>Q | No | Ensembl | |
rs2128556907 | 1991 | K>N | No | Ensembl | |
rs2128556915 | 1991 | K>Q | No | Ensembl | |
rs2128556912 | 1991 | K>R | No | Ensembl | |
rs150992008 | 1992 | I>N | No |
ESP ExAC TOPMed gnomAD |
|
rs150992008 | 1992 | I>S | No |
ESP ExAC TOPMed gnomAD |
|
rs150992008 | 1992 | I>T | No |
ESP ExAC TOPMed gnomAD |
|
rs906320421 | 1992 | I>V | No | TOPMed | |
rs2128556891 | 1993 | E>* | No | Ensembl | |
rs1040011127 | 1993 | E>A | No | TOPMed | |
rs1040011127 | 1993 | E>G | No | TOPMed | |
rs2128556891 | 1993 | E>K | No | Ensembl | |
rs2128556891 | 1993 | E>Q | No | Ensembl | |
rs2128556885 | 1994 | F>I | No | Ensembl | |
rs375091643 | 1994 | F>L | No |
ESP ExAC TOPMed gnomAD |
|
rs2128556882 | 1994 | F>Y | No | Ensembl | |
rs2128556875 | 1995 | L>P | No | Ensembl | |
rs2128556875 | 1995 | L>Q | No | Ensembl | |
rs2128556867 | 1996 | K>* | No | Ensembl | |
rs2128556862 | 1996 | K>N | No | Ensembl | |
rs1318185001 | 1996 | K>R | No |
TOPMed gnomAD |
|
rs2128556847 | 1998 | A>G | No | Ensembl | |
rs1383276210 | 1998 | A>P | No |
TOPMed gnomAD |
|
rs1383276210 | 1998 | A>S | No |
TOPMed gnomAD |
|
rs1383276210 | 1998 | A>T | No |
TOPMed gnomAD |
|
rs2128556847 | 1998 | A>V | No | Ensembl | |
rs756583901 | 1999 | H>L | No |
ExAC gnomAD |
|
VAR_041455 rs45569132 |
1999 | H>N | No |
UniProt ExAC TOPMed dbSNP gnomAD |
|
rs2128556831 | 1999 | H>Q | No | Ensembl | |
rs756583901 | 1999 | H>R | No |
ExAC gnomAD |
|
rs2128556827 | 2000 | L>P | No | Ensembl | |
rs2128556827 | 2000 | L>Q | No | Ensembl | |
rs1461295528 | 2000 | L>V | No | gnomAD | |
rs2128556809 | 2001 | M>I | No | Ensembl | |
rs2128556814 | 2001 | M>K | No | Ensembl | |
rs753178466 | 2002 | S>C | No |
ExAC gnomAD |
|
rs753178466 | 2002 | S>G | No |
ExAC gnomAD |
|
rs1776051397 | 2002 | S>N | No | TOPMed | |
rs1775985958 | 2002 | S>R | No |
TOPMed gnomAD |
|
rs1272626011 | 2003 | K>E | No | gnomAD | |
VAR_041456 | 2003 | K>R | a colorectal adenocarcinoma sample; somatic mutation [UniProt] | No | UniProt |
rs2128555814 | 2004 | F>I | No | Ensembl | |
rs2128555812 | 2004 | F>L | No | Ensembl | |
rs897773765 | 2005 | N>I | No |
TOPMed gnomAD |
|
rs897773765 | 2005 | N>S | No |
TOPMed gnomAD |
|
rs2128555808 | 2005 | N>Y | No | Ensembl | |
rs2128555800 | 2006 | H>D | No | Ensembl | |
rs2128555797 | 2006 | H>L | No | Ensembl | |
rs763916632 | 2006 | H>Q | No |
ExAC TOPMed gnomAD |
|
rs2128555800 | 2006 | H>Y | No | Ensembl | |
rs760434481 | 2007 | P>A | No |
ExAC gnomAD |
|
rs2128555792 | 2007 | P>H | No | Ensembl | |
rs760434481 | 2007 | P>S | No |
ExAC gnomAD |
|
rs760434481 | 2007 | P>T | No |
ExAC gnomAD |
|
rs376237932 | 2008 | N>I | No |
ESP TOPMed gnomAD |
|
rs2128555775 | 2008 | N>K | No | Ensembl | |
rs376237932 | 2008 | N>S | No |
ESP TOPMed gnomAD |
|
rs376237932 | 2008 | N>T | No |
ESP TOPMed gnomAD |
|
rs2128555770 | 2009 | I>F | No | Ensembl | |
rs2128555768 | 2009 | I>N | No | Ensembl | |
rs2128555768 | 2009 | I>S | No | Ensembl | |
rs1278741519 | 2010 | L>M | No | gnomAD | |
rs1278741519 | 2010 | L>V | No | gnomAD | |
rs1401547479 | 2011 | K>* | No | TOPMed | |
rs2128555751 | 2011 | K>M | No | Ensembl | |
rs2128555747 | 2011 | K>N | No | Ensembl | |
rs1401547479 | 2011 | K>Q | No | TOPMed | |
rs2128555745 | 2012 | Q>* | No | Ensembl | |
rs2128555745 | 2012 | Q>E | No | Ensembl | |
rs1234205299 | 2012 | Q>H | No | gnomAD | |
rs2128555740 | 2012 | Q>L | No | Ensembl | |
rs942065555 | 2013 | L>F | No | TOPMed | |
rs2128555727 | 2013 | L>H | No | Ensembl | |
rs942065555 | 2013 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs2128555727 | 2013 | L>P | No | Ensembl | |
COSM1287693 COSM1287694 rs942065555 |
2013 | L>V | Variant assessed as Somatic; MODERATE impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic TOPMed |
rs2128555716 | 2014 | G>* | No | Ensembl | |
rs2128555713 | 2014 | G>A | No | Ensembl | |
rs2128555713 | 2014 | G>E | No | Ensembl | |
rs2128555716 | 2014 | G>R | No | Ensembl | |
rs2128555713 | 2014 | G>V | No | Ensembl | |
rs2128555706 | 2015 | V>A | No | Ensembl | |
rs2128555706 | 2015 | V>D | No | Ensembl | |
rs2128555708 | 2015 | V>I | No | Ensembl | |
rs2128555708 | 2015 | V>L | No | Ensembl | |
rs2128555692 | 2016 | C>* | No | Ensembl | |
rs2128555695 | 2016 | C>S | No | Ensembl | |
rs1775983462 | 2016 | C>S | No | TOPMed | |
rs2128555692 | 2016 | C>W | No | Ensembl | |
rs2128555695 | 2016 | C>Y | No | Ensembl | |
rs1332464408 | 2017 | L>V | No |
TOPMed gnomAD |
|
rs2128555679 | 2018 | L>Q | No | Ensembl | |
rs2128555681 | 2018 | L>V | No | Ensembl | |
rs2128555669 | 2019 | N>I | No | Ensembl | |
rs775554788 | 2019 | N>K | No |
ExAC gnomAD |
|
rs2128555670 | 2019 | N>Y | No | Ensembl | |
rs2128555663 | 2020 | E>* | No | Ensembl | |
rs1440520941 | 2020 | E>D | No |
TOPMed gnomAD |
|
rs2128555663 | 2020 | E>K | No | Ensembl | |
rs2128555663 | 2020 | E>Q | No | Ensembl | |
rs2128555661 | 2020 | E>V | No | Ensembl | |
rs762511151 | 2021 | P>A | No |
TOPMed gnomAD |
|
rs2128555654 | 2021 | P>H | No | Ensembl | |
rs2128555654 | 2021 | P>L | No | Ensembl | |
rs2128555654 | 2021 | P>R | No | Ensembl | |
rs762511151 | 2021 | P>S | No |
TOPMed gnomAD |
|
rs762511151 | 2021 | P>T | No |
TOPMed gnomAD |
|
rs2128555647 | 2022 | Q>* | No | Ensembl | |
rs2128555647 | 2022 | Q>E | No | Ensembl | |
rs372757261 | 2022 | Q>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2128555647 | 2022 | Q>K | No | Ensembl | |
rs2128555631 | 2023 | Y>* | No | Ensembl | |
rs2128555635 | 2023 | Y>C | No | Ensembl | |
rs2128555635 | 2023 | Y>F | No | Ensembl | |
rs2128555641 | 2023 | Y>N | No | Ensembl | |
rs2128555626 | 2024 | I>N | No | Ensembl | |
rs2128555626 | 2024 | I>T | No | Ensembl | |
rs1582600835 | 2024 | I>V | No | Ensembl | |
rs2128555619 | 2025 | I>F | No | Ensembl | |
rs2128555613 | 2025 | I>M | No | Ensembl | |
rs2128555615 | 2025 | I>N | No | Ensembl | |
rs2128555610 | 2026 | L>M | No | Ensembl | |
rs2128555608 | 2026 | L>P | No | Ensembl | |
rs2128555608 | 2026 | L>Q | No | Ensembl | |
rs2128555610 | 2026 | L>V | No | Ensembl | |
rs1775981779 | 2027 | E>* | No | Ensembl | |
rs773937780 | 2027 | E>D | No |
ExAC gnomAD |
|
rs1775981779 | 2027 | E>K | No | Ensembl | |
rs1775981779 | 2027 | E>Q | No | Ensembl | |
rs1434062038 | 2028 | L>V | No |
TOPMed gnomAD |
|
rs2128555578 | 2029 | M>I | No | Ensembl | |
rs1337321469 | 2029 | M>K | No | TOPMed | |
rs199682124 | 2029 | M>L | No |
ExAC TOPMed gnomAD |
|
rs1337321469 | 2029 | M>T | No | TOPMed | |
TCGA novel rs2128555574 |
2030 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs575209344 | 2030 | E>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2128555574 | 2030 | E>K | No | Ensembl | |
rs2128555574 | 2030 | E>Q | No | Ensembl | |
rs2128555565 | 2031 | G>* | No | Ensembl | |
rs1468447100 | 2031 | G>A | No |
TOPMed gnomAD |
|
rs1468447100 | 2031 | G>E | No |
TOPMed gnomAD |
|
rs2128555565 | 2031 | G>R | No | Ensembl | |
rs1468447100 | 2031 | G>V | No |
TOPMed gnomAD |
|
rs1057519788 | 2032 | G>* | No | Ensembl | |
rs777342450 | 2032 | G>A | No |
ExAC gnomAD |
|
rs777342450 | 2032 | G>E | No |
ExAC gnomAD |
|
rs777342450 | 2032 | G>V | No |
ExAC gnomAD |
|
rs557108710 | 2033 | D>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs748581568 | 2033 | D>G | No |
ExAC TOPMed gnomAD |
|
rs1484038087 | 2033 | D>H | No | gnomAD | |
rs1484038087 | 2033 | D>N | No | gnomAD | |
rs748581568 | 2033 | D>V | No |
ExAC TOPMed gnomAD |
|
rs2128555531 | 2034 | L>F | No | Ensembl | |
rs2128555530 | 2034 | L>H | No | Ensembl | |
rs2128555530 | 2034 | L>P | No | Ensembl | |
rs2128555531 | 2034 | L>V | No | Ensembl | |
rs755420040 | 2035 | L>F | No |
ExAC TOPMed gnomAD |
|
rs2128555524 | 2035 | L>H | No | Ensembl | |
rs755420040 | 2035 | L>V | No |
ExAC TOPMed gnomAD |
|
rs1775978954 | 2036 | T>A | No | TOPMed | |
rs2128555510 | 2036 | T>I | No | Ensembl | |
rs2128555510 | 2036 | T>S | No | Ensembl | |
rs2128555501 | 2037 | Y>H | No | Ensembl | |
rs1281394663 | 2038 | L>F | No |
TOPMed gnomAD |
|
rs2128555497 | 2038 | L>M | No | Ensembl | |
rs752085591 | 2039 | R>C | No |
ExAC TOPMed gnomAD |
|
rs752085591 | 2039 | R>G | No |
ExAC TOPMed gnomAD |
|
VAR_030654 rs3752566 |
2039 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
rs3752566 | 2039 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs3752566 | 2039 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs752085591 | 2039 | R>S | No |
ExAC TOPMed gnomAD |
|
rs2128555469 | 2040 | K>I | No | Ensembl | |
rs2128555462 | 2040 | K>N | No | Ensembl | |
rs2128555469 | 2040 | K>R | No | Ensembl | |
rs1775978230 | 2041 | A>D | No | TOPMed | |
rs1775978230 | 2041 | A>G | No | TOPMed | |
rs1775978230 | 2041 | A>V | No | TOPMed | |
rs758446263 | 2042 | R>G | No |
ExAC TOPMed gnomAD |
|
rs369340872 | 2042 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
rs369340872 | 2042 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs758446263 | 2042 | R>W | No |
ExAC TOPMed gnomAD |
|
rs2128555441 | 2043 | M>I | No | Ensembl | |
rs2128555445 | 2043 | M>K | No | Ensembl | |
rs2128555449 | 2043 | M>L | No | Ensembl | |
rs2128555445 | 2043 | M>R | No | Ensembl | |
rs2128555449 | 2043 | M>V | No | Ensembl | |
rs147277840 | 2044 | A>P | No |
ESP ExAC gnomAD |
|
rs147277840 | 2044 | A>S | No |
ESP ExAC gnomAD |
|
rs147277840 | 2044 | A>T | No |
ESP ExAC gnomAD |
|
rs2128555435 | 2045 | T>A | No | Ensembl | |
rs957947676 | 2045 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs957947676 | 2045 | T>R | No |
TOPMed gnomAD |
|
rs2128555435 | 2045 | T>S | No | Ensembl | |
rs2128550100 | 2046 | F>I | No | Ensembl | |
COSM1647881 COSM739508 rs2128550096 COSM739509 |
2046 | F>Y | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
rs2128550090 | 2047 | Y>* | No | Ensembl | |
rs2128550086 | 2047 | Y>F | No | Ensembl | |
rs1321755162 | 2047 | Y>H | No | gnomAD | |
rs1321755162 | 2047 | Y>N | No | gnomAD | |
rs2128550068 | 2048 | G>A | No | Ensembl | |
rs2128550081 | 2048 | G>C | No | Ensembl | |
rs2128550068 | 2048 | G>D | No | Ensembl | |
rs2128550081 | 2048 | G>R | No | Ensembl | |
rs2128550068 | 2048 | G>V | No | Ensembl | |
rs2128550067 | 2049 | P>A | No | Ensembl | |
rs1775511666 COSM3619820 COSM3619821 |
2049 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs2128550067 | 2049 | P>S | No | Ensembl | |
rs1775511388 | 2050 | L>F | No | Ensembl | |
rs2128550051 | 2051 | L>H | No | Ensembl | |
rs2128550053 | 2051 | L>V | No | Ensembl | |
rs529164211 | 2052 | T>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs529164211 | 2052 | T>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1562259733 | 2052 | T>P | No | Ensembl | |
rs529164211 | 2052 | T>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1562259733 | 2052 | T>S | No | Ensembl | |
rs766298478 | 2053 | L>F | No |
ExAC gnomAD |
|
rs201894511 | 2054 | V>F | No |
ESP ExAC TOPMed gnomAD |
|
rs201894511 | 2054 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
rs201894511 | 2054 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
rs1775509983 | 2055 | D>E | No |
TOPMed gnomAD |
|
rs1775510174 | 2055 | D>H | No | gnomAD | |
rs1775510174 | 2055 | D>N | No | gnomAD | |
rs2128550014 | 2055 | D>V | No | Ensembl | |
rs1775510174 | 2055 | D>Y | No | gnomAD | |
rs1775509786 | 2056 | L>F | No | gnomAD | |
rs2128549994 | 2056 | L>H | No | Ensembl | |
rs1775509786 | 2056 | L>I | No | gnomAD | |
rs2128549994 | 2056 | L>P | No | Ensembl | |
rs1034471676 | 2057 | V>A | No | TOPMed | |
rs1436986770 | 2057 | V>I | No | gnomAD | |
rs1436986770 | 2057 | V>L | No | gnomAD | |
rs2128549948 | 2058 | D>E | No | Ensembl | |
rs764825728 | 2058 | D>G | No |
ExAC gnomAD |
|
rs772539932 | 2058 | D>H | No |
ExAC gnomAD |
|
rs772539932 | 2058 | D>N | No |
ExAC gnomAD |
|
rs764825728 | 2058 | D>V | No |
ExAC gnomAD |
|
rs772539932 | 2058 | D>Y | No |
ExAC gnomAD |
|
TCGA novel | 2059 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs761415842 | 2059 | L>P | No |
ExAC gnomAD |
|
rs761415842 | 2059 | L>Q | No |
ExAC gnomAD |
|
rs2128549941 | 2059 | L>V | No | Ensembl | |
rs368003464 | 2060 | C>* | No |
ESP ExAC gnomAD |
|
rs2128549911 | 2060 | C>F | No | Ensembl | |
rs1393239973 | 2060 | C>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs2128549911 | 2060 | C>S | No | Ensembl | |
rs1393239973 | 2060 | C>S | No |
TOPMed gnomAD |
|
TCGA novel | 2061 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2128549892 | 2061 | V>E | No | Ensembl | |
rs2128549900 | 2061 | V>I | No | Ensembl | |
rs2128549900 | 2061 | V>L | No | Ensembl | |
rs1775507652 | 2062 | D>E | No | Ensembl | |
rs2128549875 | 2062 | D>H | No | Ensembl | |
rs2128549875 | 2062 | D>N | No | Ensembl | |
rs2128549872 | 2062 | D>V | No | Ensembl | |
rs2128549875 | 2062 | D>Y | No | Ensembl | |
rs2128549864 | 2063 | I>F | No | Ensembl | |
rs193121244 | 2063 | I>N | No |
1000Genomes ExAC gnomAD |
|
rs2128549848 | 2064 | S>* | No | Ensembl | |
rs2128549848 | 2064 | S>L | No | Ensembl | |
rs2128549852 | 2064 | S>T | No | Ensembl | |
rs776060632 | 2065 | K>* | No |
ExAC gnomAD |
|
rs776060632 | 2065 | K>E | No |
ExAC gnomAD |
|
rs1775506664 | 2066 | G>A | No | Ensembl | |
COSM6172043 COSM6172042 |
2066 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1775506664 | 2066 | G>D | No | Ensembl | |
rs1775506664 | 2066 | G>V | No | Ensembl | |
rs2128549811 | 2067 | C>* | No | Ensembl | |
COSM3857777 COSM3857778 |
2067 | C>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs772393224 | 2067 | C>R | No |
ExAC gnomAD |
|
rs772393224 | 2067 | C>S | No |
ExAC gnomAD |
|
rs1775506273 | 2067 | C>Y | No | TOPMed | |
rs2128549806 | 2068 | V>I | No | Ensembl | |
rs2128549806 | 2068 | V>L | No | Ensembl | |
rs1775505857 | 2069 | Y>* | No | TOPMed | |
rs1190220728 | 2069 | Y>C | No | gnomAD | |
rs1190220728 | 2069 | Y>F | No | gnomAD | |
rs2128549802 | 2069 | Y>N | No | Ensembl | |
rs1190220728 | 2069 | Y>S | No | gnomAD | |
rs1488589803 | 2070 | L>* | No | gnomAD | |
rs1488589803 | 2070 | L>S | No | gnomAD | |
rs2128549787 | 2071 | E>A | No | Ensembl | |
rs2128549782 | 2071 | E>D | No | Ensembl | |
rs139881304 | 2072 | R>G | No |
1000Genomes ESP ExAC gnomAD |
|
rs779401784 | 2072 | R>L | No |
ExAC TOPMed gnomAD |
|
rs779401784 | 2072 | R>P | No |
ExAC TOPMed gnomAD |
|
rs779401784 | 2072 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs139881304 | 2072 | R>W | No |
1000Genomes ESP ExAC gnomAD |
|
rs2128549760 | 2073 | M>I | No | Ensembl | |
rs1775505126 | 2073 | M>K | No | Ensembl | |
rs2128549766 | 2073 | M>L | No | Ensembl | |
rs1775505126 | 2073 | M>R | No | Ensembl | |
rs2128549756 | 2074 | H>D | No | Ensembl | |
rs1001750135 | 2074 | H>L | No | Ensembl | |
rs1001750135 | 2074 | H>P | No | Ensembl | |
rs1001750135 | 2074 | H>R | No | Ensembl | |
rs2128549756 | 2074 | H>Y | No | Ensembl | |
rs868183177 | 2075 | F>L | No | Ensembl | |
rs1340913308 | 2077 | H>L | No | gnomAD | |
rs2128549737 | 2077 | H>Q | No | Ensembl | |
rs1340913308 | 2077 | H>R | No | gnomAD | |
rs2128549735 | 2078 | R>G | No | Ensembl | |
rs528528184 | 2078 | R>K | No | 1000Genomes | |
rs528528184 | 2078 | R>M | No | 1000Genomes | |
rs147454452 | 2078 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
rs528528184 | 2078 | R>T | No | 1000Genomes | |
COSM6172044 COSM6172045 |
2078 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2128548761 | 2079 | D>E | No | Ensembl | |
rs774960557 | 2079 | D>G | No |
ExAC TOPMed gnomAD |
|
rs1416655668 | 2079 | D>H | No | Ensembl | |
COSM1697815 rs1416655668 COSM1697816 |
2079 | D>N | skin [Cosmic] | No |
cosmic curated Ensembl |
rs774960557 | 2079 | D>V | No |
ExAC TOPMed gnomAD |
|
rs1416655668 | 2079 | D>Y | No | Ensembl | |
rs2128548756 | 2080 | L>P | No | Ensembl | |
rs2128548756 | 2080 | L>Q | No | Ensembl | |
rs1166389096 | 2081 | A>P | No |
TOPMed gnomAD |
|
rs1166389096 | 2081 | A>S | No |
TOPMed gnomAD |
|
COSM1072514 COSM1072512 COSM4867723 rs1166389096 |
2081 | A>T | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs2128548732 | 2082 | A>D | No | Ensembl | |
rs2128548732 | 2082 | A>G | No | Ensembl | |
rs2128548737 | 2082 | A>P | No | Ensembl | |
rs2128548737 | 2082 | A>T | No | Ensembl | |
TCGA novel rs2128548732 |
2082 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs552183 | 2083 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs749448229 | 2083 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs1775438250 | 2084 | N>D | No | Ensembl | |
rs2128548710 | 2084 | N>I | No | Ensembl | |
rs2128548703 | 2084 | N>K | No | Ensembl | |
rs1775438250 | 2084 | N>Y | No | Ensembl | |
rs1775437483 | 2085 | C>F | No | Ensembl | |
rs770087460 | 2085 | C>G | No |
ExAC gnomAD |
|
rs770087460 | 2085 | C>R | No |
ExAC gnomAD |
|
rs770087460 | 2085 | C>S | No |
ExAC gnomAD |
|
rs1775437483 | 2085 | C>S | No | Ensembl | |
rs1775437272 | 2085 | C>W | No | TOPMed | |
rs1775437483 | 2085 | C>Y | No | Ensembl | |
rs1775437042 | 2086 | L>F | No | TOPMed | |
rs2128548686 | 2086 | L>H | No | Ensembl | |
rs1775437042 | 2086 | L>I | No | TOPMed | |
rs1775437042 | 2086 | L>V | No | TOPMed | |
rs779674711 | 2087 | V>A | No |
ExAC gnomAD |
|
rs779674711 | 2087 | V>D | No |
ExAC gnomAD |
|
rs748425390 | 2087 | V>F | No |
ExAC TOPMed gnomAD |
|
rs779674711 | 2087 | V>G | No |
ExAC gnomAD |
|
rs748425390 | 2087 | V>I | No |
ExAC TOPMed gnomAD |
|
rs748425390 | 2087 | V>L | No |
ExAC TOPMed gnomAD |
|
rs2128548665 COSM3619819 COSM3619818 |
2088 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs2128548667 | 2088 | S>P | No | Ensembl | |
rs2128548652 | 2089 | V>E | No | Ensembl | |
rs2128548652 | 2089 | V>G | No | Ensembl | |
rs750308356 | 2089 | V>L | No |
ExAC TOPMed gnomAD |
|
COSM4722425 COSM4722426 rs750308356 |
2089 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs2128548644 | 2090 | K>* | No | Ensembl | |
rs2128548638 | 2090 | K>I | No | Ensembl | |
rs2128548626 | 2091 | D>E | No | Ensembl | |
rs778877637 | 2091 | D>G | No |
ExAC TOPMed gnomAD |
|
rs1775435625 | 2091 | D>H | No | gnomAD | |
rs1775435625 | 2091 | D>N | No | gnomAD | |
rs778877637 | 2091 | D>V | No |
ExAC TOPMed gnomAD |
|
rs1775435625 | 2091 | D>Y | No | gnomAD | |
rs2128548617 | 2092 | Y>* | No | Ensembl | |
COSM1647883 COSM739515 |
2092 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2128548620 | 2092 | Y>F | No | Ensembl | |
rs2128548622 | 2092 | Y>N | No | Ensembl | |
rs2128548610 | 2093 | T>A | No | Ensembl | |
rs1775435080 | 2093 | T>I | No |
TOPMed gnomAD |
|
rs1775435080 | 2093 | T>N | No |
TOPMed gnomAD |
|
rs1775435080 | 2093 | T>S | No |
TOPMed gnomAD |
|
rs2128548610 | 2093 | T>S | No | Ensembl | |
rs1225166807 | 2094 | S>G | No | gnomAD | |
rs2128548594 | 2094 | S>I | No | Ensembl | |
rs2128548594 | 2094 | S>N | No | Ensembl | |
rs2128548589 | 2094 | S>R | No | Ensembl | |
rs2128548594 | 2094 | S>T | No | Ensembl | |
rs2128548582 | 2095 | P>L | No | Ensembl | |
rs2128548582 | 2095 | P>R | No | Ensembl | |
rs1775434448 | 2095 | P>S | No | TOPMed | |
rs371087942 | 2096 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
rs1022614558 | 2096 | R>L | No |
TOPMed gnomAD |
|
rs1022614558 | 2096 | R>P | No |
TOPMed gnomAD |
|
COSM3857775 COSM3857776 rs1022614558 |
2096 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs371087942 COSM4871660 COSM1072511 COSM1072509 |
2096 | R>W | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs753277535 | 2097 | I>K | No |
ExAC gnomAD |
|
rs2128548563 | 2097 | I>L | No | Ensembl | |
rs2128548550 | 2097 | I>M | No | Ensembl | |
rs753277535 | 2097 | I>R | No |
ExAC gnomAD |
|
rs753277535 | 2097 | I>T | No |
ExAC gnomAD |
|
rs2128548563 | 2097 | I>V | No | Ensembl | |
rs2128548536 | 2098 | V>A | No | Ensembl | |
rs2128548536 | 2098 | V>E | No | Ensembl | |
rs2128548536 | 2098 | V>G | No | Ensembl | |
rs2128548542 | 2098 | V>L | No | Ensembl | |
rs2128548542 | 2098 | V>M | No | Ensembl | |
rs1231534643 | 2099 | K>N | No |
TOPMed gnomAD |
|
rs1775433158 | 2100 | I>F | No | Ensembl | |
rs763607384 | 2100 | I>M | No |
ExAC gnomAD |
|
rs1775432981 | 2100 | I>N | No | Ensembl | |
rs1775432981 | 2100 | I>S | No | Ensembl | |
rs1775432981 | 2100 | I>T | No | Ensembl | |
rs2128548505 | 2101 | G>* | No | Ensembl | |
rs2128548497 | 2101 | G>A | No | Ensembl | |
rs2128548497 | 2101 | G>E | No | Ensembl | |
rs2128548505 | 2101 | G>R | No | Ensembl | |
rs2128548497 | 2101 | G>V | No | Ensembl | |
rs760267537 | 2102 | D>E | No |
ExAC TOPMed gnomAD |
|
rs2128548484 | 2102 | D>G | No | Ensembl | |
rs2128548486 | 2102 | D>H | No | Ensembl | |
rs2128548486 | 2102 | D>N | No | Ensembl | |
rs2128548484 | 2102 | D>V | No | Ensembl | |
rs2128548471 | 2103 | F>I | No | Ensembl | |
rs2128548467 | 2103 | F>S | No | Ensembl | |
rs1775432135 | 2104 | G>* | No | gnomAD | |
rs1681569421 | 2104 | G>A | No | gnomAD | |
rs1681569421 | 2104 | G>E | No | gnomAD | |
rs1775432135 | 2104 | G>R | No | gnomAD | |
rs1681569421 | 2104 | G>V | No | gnomAD | |
rs1322389853 | 2105 | L>F | No | Ensembl | |
rs1012650170 | 2105 | L>H | No | Ensembl | |
rs1012650170 | 2105 | L>P | No | Ensembl | |
rs1322389853 | 2105 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
rs2128548421 | 2106 | A>D | No | Ensembl | |
rs2128548421 | 2106 | A>G | No | Ensembl | |
rs150262256 | 2106 | A>P | No |
ESP ExAC TOPMed gnomAD |
|
rs150262256 | 2106 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
rs150262256 COSM76280 COSM4947626 |
2106 | A>T | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs2128548421 | 2106 | A>V | No | Ensembl | |
rs1775430553 | 2107 | R>G | No | TOPMed | |
rs2128548398 | 2107 | R>K | No | Ensembl | |
rs2128548393 | 2107 | R>S | No | Ensembl | |
rs2128548398 | 2107 | R>T | No | Ensembl | |
rs2128548373 | 2108 | D>E | No | Ensembl | |
rs563507203 | 2108 | D>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2128548388 | 2108 | D>H | No | Ensembl | |
rs2128548388 | 2108 | D>N | No | Ensembl | |
rs563507203 | 2108 | D>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2128548388 | 2108 | D>Y | No | Ensembl | |
rs2128548358 | 2109 | I>M | No | Ensembl | |
rs2128548363 | 2109 | I>N | No | Ensembl | |
rs1582578695 | 2109 | I>V | No | Ensembl | |
rs2128548346 | 2110 | Y>* | No | Ensembl | |
rs763571645 | 2110 | Y>C | No |
ExAC TOPMed gnomAD |
|
rs2128548355 TCGA novel |
2110 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs763571645 | 2110 | Y>S | No |
ExAC TOPMed gnomAD |
|
rs2128548344 | 2111 | K>* | No | Ensembl | |
rs2128548340 | 2111 | K>I | No | Ensembl | |
rs773381586 | 2111 | K>N | No |
ExAC gnomAD |
|
rs770025086 | 2112 | N>D | No |
ExAC TOPMed gnomAD |
|
rs2128548323 | 2112 | N>I | No | Ensembl | |
rs770025086 | 2112 | N>Y | No |
ExAC TOPMed gnomAD |
|
rs2128548313 | 2113 | D>E | No | Ensembl | |
rs2128548316 | 2113 | D>H | No | Ensembl | |
rs2128548316 | 2113 | D>N | No | Ensembl | |
rs748287694 | 2113 | D>V | No |
ExAC gnomAD |
|
rs2128548309 | 2114 | Y>* | No | Ensembl | |
rs201206180 | 2114 | Y>C | No |
1000Genomes ExAC gnomAD |
|
rs745741484 | 2115 | Y>* | No |
ExAC gnomAD |
|
rs150994413 | 2115 | Y>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs150994413 | 2115 | Y>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2128548300 | 2115 | Y>H | No | Ensembl | |
rs2128548300 | 2115 | Y>N | No | Ensembl | |
rs2128548291 | 2116 | R>* | No | Ensembl | |
rs2128548287 | 2116 | R>I | No | Ensembl | |
rs2128548283 | 2116 | R>S | No | Ensembl | |
rs2128548287 | 2116 | R>T | No | Ensembl | |
rs1484526625 | 2117 | K>Q | No | TOPMed | |
rs778683218 | 2118 | R>S | No |
ExAC gnomAD |
|
rs757128233 | 2119 | G>E | No |
ExAC gnomAD |
|
rs2128548262 | 2119 | G>R | No | Ensembl | |
rs2128548262 | 2119 | G>W | No | Ensembl | |
rs2128548241 | 2120 | E>D | No | Ensembl | |
rs2128548245 | 2120 | E>G | No | Ensembl | |
rs2128548249 | 2120 | E>K | No | Ensembl | |
rs2128548249 | 2120 | E>Q | No | Ensembl | |
rs2128548245 | 2120 | E>V | No | Ensembl | |
rs749246490 | 2121 | G>A | No |
ExAC gnomAD |
|
rs1305422933 | 2121 | G>C | No | gnomAD | |
rs749246490 | 2121 | G>D | No |
ExAC gnomAD |
|
rs1305422933 | 2121 | G>S | No | gnomAD | |
rs749246490 | 2121 | G>V | No |
ExAC gnomAD |
|
rs2128548215 | 2122 | L>Q | No | Ensembl | |
rs2128548220 | 2122 | L>V | No | Ensembl | |
rs886941681 | 2123 | L>F | No | Ensembl | |
rs2128548191 | 2123 | L>H | No | Ensembl | |
rs2128548191 | 2123 | L>P | No | Ensembl | |
rs886941681 | 2123 | L>V | No | Ensembl | |
rs2128548183 | 2124 | P>A | No | Ensembl | |
rs752266755 | 2124 | P>L | No |
ExAC gnomAD |
|
rs2128548183 | 2124 | P>S | No | Ensembl | |
rs2128548183 | 2124 | P>T | No | Ensembl | |
rs2128548165 | 2125 | V>A | No | Ensembl | |
rs2128548165 | 2125 | V>D | No | Ensembl | |
rs1355678032 | 2125 | V>F | No |
TOPMed gnomAD |
|
rs2128548165 | 2125 | V>G | No | Ensembl | |
COSM139666 rs1355678032 |
2125 | V>I | skin [Cosmic] | No |
cosmic curated TOPMed gnomAD |
rs1355678032 | 2125 | V>L | No |
TOPMed gnomAD |
|
rs138376257 COSM1559724 COSM1559725 |
2126 | R>G | central_nervous_system [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs199882276 | 2126 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs199882276 | 2126 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
RCV000880789 rs199882276 |
2126 | R>Q | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs138376257 COSM227019 COSM227020 |
2126 | R>W | skin [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs2128548137 COSM1697814 COSM1697813 |
2127 | W>* | skin [Cosmic] | No |
cosmic curated Ensembl |
COSM1697814 rs2128548131 COSM1697813 |
2127 | W>* | skin [Cosmic] | No |
cosmic curated Ensembl |
rs2128548131 | 2127 | W>C | No | Ensembl | |
rs1321959715 | 2127 | W>G | No | gnomAD | |
rs1321959715 | 2127 | W>R | No | gnomAD | |
rs1775424027 | 2128 | M>I | No | Ensembl | |
rs1775424227 | 2128 | M>K | No | TOPMed | |
rs1775424227 | 2128 | M>R | No | TOPMed | |
rs1402698762 | 2128 | M>V | No |
TOPMed gnomAD |
|
rs1775423828 | 2129 | A>P | No | TOPMed | |
rs1775423828 | 2129 | A>S | No | TOPMed | |
rs1775423828 | 2129 | A>T | No | TOPMed | |
rs1297604319 | 2129 | A>V | No |
TOPMed gnomAD |
|
rs2128548104 | 2130 | P>A | No | Ensembl | |
rs2128548088 | 2130 | P>L | No | Ensembl | |
rs2128548088 | 2130 | P>Q | No | Ensembl | |
rs2128548088 | 2130 | P>R | No | Ensembl | |
rs2128548104 | 2130 | P>S | No | Ensembl | |
rs2128548104 | 2130 | P>T | No | Ensembl | |
COSM4893814 COSM4893815 |
2131 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2128548084 | 2131 | E>K | No | Ensembl | |
rs2128548084 | 2131 | E>Q | No | Ensembl | |
rs2128548075 | 2132 | S>C | No | Ensembl | |
rs2128548075 | 2132 | S>G | No | Ensembl | |
rs773896715 | 2132 | S>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM3619816 COSM3619817 rs773896715 |
2132 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC TOPMed gnomAD |
rs2128548061 | 2132 | S>R | No | Ensembl | |
rs773896715 | 2132 | S>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1582578243 | 2133 | L>* | No | gnomAD | |
rs2128548046 | 2133 | L>F | No | Ensembl | |
rs765386753 | 2133 | L>M | No |
ExAC gnomAD |
|
rs1582578243 | 2133 | L>W | No | gnomAD | |
rs2128548033 | 2134 | M>I | No | Ensembl | |
rs762013317 | 2134 | M>K | No |
ExAC TOPMed gnomAD |
|
rs1775422675 | 2134 | M>L | No | Ensembl | |
rs762013317 | 2134 | M>T | No |
ExAC TOPMed gnomAD |
|
rs1775422675 | 2134 | M>V | No | Ensembl | |
rs1163300111 | 2135 | D>E | No | gnomAD | |
rs376507701 | 2135 | D>G | No |
ESP ExAC TOPMed gnomAD |
|
rs2128548027 | 2135 | D>H | No | Ensembl | |
rs2128548027 | 2135 | D>N | No | Ensembl | |
rs376507701 | 2135 | D>V | No |
ESP ExAC TOPMed gnomAD |
|
rs2128548027 | 2135 | D>Y | No | Ensembl | |
COSM5902807 COSM5902806 rs1459053852 |
2136 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
gnomAD NCI-TCGA Cosmic NCI-TCGA |
rs1158125322 | 2137 | I>L | No | gnomAD | |
rs1305518433 | 2137 | I>M | No |
TOPMed gnomAD |
|
rs2128548007 | 2137 | I>N | No | Ensembl | |
rs747208320 | 2138 | F>I | No |
ExAC gnomAD |
|
rs2128547984 COSM1440040 COSM1440041 |
2138 | F>L | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
COSM1440040 COSM1440041 rs747208320 |
2138 | F>L | large_intestine [Cosmic] | No |
cosmic curated ExAC gnomAD |
VAR_041457 | 2138 | F>S | a gastric adenocarcinoma sample; somatic mutation [UniProt] | No | UniProt |
COSM1440043 COSM1440042 rs747208320 |
2138 | F>V | large_intestine [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs2128547988 | 2138 | F>Y | No | Ensembl | |
rs774083623 | 2140 | T>A | No |
ExAC gnomAD |
|
rs2128547966 | 2140 | T>I | No | Ensembl | |
rs774083623 | 2140 | T>P | No |
ExAC gnomAD |
|
rs2128547966 | 2140 | T>S | No | Ensembl | |
rs774083623 | 2140 | T>S | No |
ExAC gnomAD |
|
rs770739791 | 2141 | Q>* | No |
ExAC gnomAD |
|
COSM3857774 COSM3857773 |
2141 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2128547957 | 2141 | Q>L | No | Ensembl | |
rs2128547943 | 2142 | S>C | No | Ensembl | |
rs2128547943 | 2142 | S>F | No | Ensembl | |
rs2128547943 | 2142 | S>Y | No | Ensembl | |
rs2128547925 | 2143 | D>E | No | Ensembl | |
rs2128547932 | 2143 | D>H | No | Ensembl | |
rs2128547932 | 2143 | D>N | No | Ensembl | |
rs2128547927 | 2143 | D>V | No | Ensembl | |
rs2128547932 | 2143 | D>Y | No | Ensembl | |
rs2128547914 | 2144 | V>A | No | Ensembl | |
rs2128547914 | 2144 | V>E | No | Ensembl | |
rs749189360 COSM739516 COSM1647884 COSM739517 |
2144 | V>I | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
rs749189360 | 2144 | V>L | No |
ExAC gnomAD |
|
rs2128546443 | 2145 | W>* | No | Ensembl | |
rs755564042 | 2145 | W>* | No |
ExAC TOPMed gnomAD |
|
rs2128546443 | 2145 | W>C | No | Ensembl | |
rs2128547905 | 2145 | W>R | No | Ensembl | |
rs2128546433 | 2146 | S>C | No | Ensembl | |
rs2128546433 | 2146 | S>F | No | Ensembl | |
rs760847633 | 2146 | S>P | No |
ExAC gnomAD |
|
rs760847633 | 2146 | S>T | No |
ExAC gnomAD |
|
rs2128546433 | 2146 | S>Y | No | Ensembl | |
rs2128546427 | 2147 | F>L | No | Ensembl | |
rs2128546417 | 2148 | G>A | No | Ensembl | |
COSM5910528 COSM5910529 rs2128546417 |
2148 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs2128546417 | 2148 | G>V | No | Ensembl | |
rs2128546408 | 2149 | I>F | No | Ensembl | |
rs1285782510 | 2149 | I>N | No | gnomAD | |
rs1285782510 | 2149 | I>S | No | gnomAD | |
rs1285782510 | 2149 | I>T | No | gnomAD | |
rs2128546395 | 2150 | L>Q | No | Ensembl | |
rs2128546382 COSM95206 |
2151 | I>F | lung [Cosmic] | No |
cosmic curated Ensembl |
rs2128546380 | 2151 | I>N | No | Ensembl | |
rs2128546382 | 2151 | I>V | No | Ensembl | |
rs2128546357 | 2152 | W>* | No | Ensembl | |
rs2128546364 | 2152 | W>* | No | Ensembl | |
rs2128546357 | 2152 | W>C | No | Ensembl | |
rs2128546364 | 2152 | W>L | No | Ensembl | |
rs1310146010 | 2152 | W>R | No | TOPMed | |
rs2128546364 | 2152 | W>S | No | Ensembl | |
rs1775321457 | 2153 | E>* | No |
TOPMed gnomAD |
|
rs1775321187 | 2153 | E>D | No |
TOPMed gnomAD |
|
rs1775321457 | 2153 | E>K | No |
TOPMed gnomAD |
|
rs2128546344 | 2154 | I>F | No | Ensembl | |
rs1278895252 | 2154 | I>N | No | gnomAD | |
rs1278895252 | 2154 | I>T | No | gnomAD | |
rs1346166157 | 2155 | L>* | No | gnomAD | |
COSM3619814 COSM3619815 |
2155 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs775729194 | 2155 | L>I | No |
ExAC gnomAD |
|
rs1346166157 | 2155 | L>S | No | gnomAD | |
rs2128546313 | 2156 | T>I | No | Ensembl | |
rs2128546319 | 2156 | T>S | No | Ensembl | |
rs2128546313 | 2156 | T>S | No | Ensembl | |
rs2128546308 | 2157 | L>F | No | Ensembl | |
rs1775320283 | 2157 | L>H | No | TOPMed | |
rs1775320283 | 2157 | L>P | No | TOPMed | |
rs1775320283 | 2157 | L>R | No | TOPMed | |
rs2128546308 | 2157 | L>V | No | Ensembl | |
rs2128546279 | 2158 | G>A | No | Ensembl | |
rs2128546285 | 2158 | G>C | No | Ensembl | |
rs2128546279 | 2158 | G>D | No | Ensembl | |
rs2128546285 | 2158 | G>R | No | Ensembl | |
rs2128546285 COSM3783928 COSM3783927 |
2158 | G>S | Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
rs2128546279 | 2158 | G>V | No | Ensembl | |
rs770688968 | 2159 | H>D | No |
ExAC TOPMed gnomAD |
|
rs749138188 | 2159 | H>L | No |
ExAC gnomAD |
|
rs770688968 | 2159 | H>N | No |
ExAC TOPMed gnomAD |
|
rs1775319690 | 2159 | H>Q | No | Ensembl | |
rs749138188 | 2159 | H>R | No |
ExAC gnomAD |
|
rs770688968 | 2159 | H>Y | No |
ExAC TOPMed gnomAD |
|
rs2128546253 | 2160 | Q>* | No | Ensembl | |
rs2128546253 | 2160 | Q>E | No | Ensembl | |
rs2128546244 | 2160 | Q>H | No | Ensembl | |
rs2128546250 | 2160 | Q>L | No | Ensembl | |
rs2128546240 | 2161 | P>A | No | Ensembl | |
rs772998388 | 2161 | P>H | No |
ExAC gnomAD |
|
rs772998388 | 2161 | P>L | No |
ExAC gnomAD |
|
rs772998388 | 2161 | P>R | No |
ExAC gnomAD |
|
rs2128546240 | 2161 | P>S | No | Ensembl | |
rs748058744 | 2162 | Y>D | No |
ExAC gnomAD |
|
rs748058744 | 2162 | Y>H | No |
ExAC gnomAD |
|
rs748058744 | 2162 | Y>N | No |
ExAC gnomAD |
|
rs2128546205 | 2163 | P>A | No | Ensembl | |
TCGA novel rs2128546196 |
2163 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs2128546196 | 2163 | P>Q | No | Ensembl | |
rs2128546196 | 2163 | P>R | No | Ensembl | |
rs2128546205 | 2163 | P>S | No | Ensembl | |
rs2128546205 | 2163 | P>T | No | Ensembl | |
rs2128546187 | 2164 | A>D | No | Ensembl | |
rs2128546187 | 2164 | A>G | No | Ensembl | |
rs1740235982 | 2164 | A>P | No |
TOPMed gnomAD |
|
rs1740235982 | 2164 | A>S | No |
TOPMed gnomAD |
|
rs1740235982 | 2164 | A>T | No |
TOPMed gnomAD |
|
rs2128546187 | 2164 | A>V | No | Ensembl | |
rs780713592 | 2165 | H>D | No |
ExAC gnomAD |
|
rs2128546174 | 2165 | H>L | No | Ensembl | |
rs780713592 | 2165 | H>N | No |
ExAC gnomAD |
|
rs2128546168 | 2165 | H>Q | No | Ensembl | |
rs780713592 | 2165 | H>Y | No |
ExAC gnomAD |
|
rs2128546164 | 2166 | S>A | No | Ensembl | |
rs976517290 | 2166 | S>C | No | Ensembl | |
rs976517290 | 2166 | S>F | No | Ensembl | |
rs976517290 | 2166 | S>Y | No | Ensembl | |
rs2128546150 | 2167 | N>I | No | Ensembl | |
rs374358403 | 2167 | N>K | No |
ESP ExAC TOPMed gnomAD |
|
rs2128546150 | 2167 | N>T | No | Ensembl | |
rs746642345 | 2168 | L>F | No |
ExAC gnomAD |
|
rs1775317741 | 2168 | L>H | No | gnomAD | |
rs746642345 | 2168 | L>I | No |
ExAC gnomAD |
|
rs1775317741 | 2168 | L>P | No | gnomAD | |
rs746642345 | 2168 | L>V | No |
ExAC gnomAD |
|
rs2128546102 | 2169 | D>G | No | Ensembl | |
rs2128546111 | 2169 | D>H | No | Ensembl | |
rs2128546111 | 2169 | D>N | No | Ensembl | |
rs2128546102 | 2169 | D>V | No | Ensembl | |
rs2128546111 | 2169 | D>Y | No | Ensembl | |
rs2128546081 | 2170 | V>E | No | Ensembl | |
rs2128546089 | 2170 | V>L | No | Ensembl | |
rs2128546089 | 2170 | V>M | No | Ensembl | |
rs2128546062 | 2171 | L>* | No | Ensembl | |
rs2128546059 | 2171 | L>F | No | Ensembl | |
rs2128546070 | 2171 | L>I | No | Ensembl | |
rs2128546062 | 2171 | L>S | No | Ensembl | |
rs758832763 | 2172 | N>H | No |
ExAC gnomAD |
|
rs750748780 | 2172 | N>I | No |
ExAC gnomAD |
|
rs2128546047 | 2172 | N>K | No | Ensembl | |
rs750748780 | 2172 | N>S | No |
ExAC gnomAD |
|
rs758832763 | 2172 | N>Y | No |
ExAC gnomAD |
|
rs2128546031 | 2173 | Y>* | No | Ensembl | |
rs377356164 | 2173 | Y>C | No |
ESP ExAC TOPMed gnomAD |
|
rs377356164 | 2173 | Y>F | No |
ESP ExAC TOPMed gnomAD |
|
rs182529844 | 2173 | Y>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs377356164 | 2173 | Y>S | No |
ESP ExAC TOPMed gnomAD |
|
rs754329824 | 2174 | V>E | No |
ExAC gnomAD |
|
rs2128546022 | 2174 | V>L | No | Ensembl | |
rs2128546022 | 2174 | V>M | No | Ensembl | |
rs764203432 | 2175 | Q>* | No |
ExAC gnomAD |
|
rs764203432 | 2175 | Q>E | No |
ExAC gnomAD |
|
rs764203432 | 2175 | Q>K | No |
ExAC gnomAD |
|
rs1440090931 | 2176 | T>I | No | TOPMed | |
rs2128546012 | 2176 | T>P | No | Ensembl | |
rs1440090931 | 2176 | T>R | No | TOPMed | |
rs1775315228 | 2177 | G>A | No | Ensembl | |
rs1775315228 | 2177 | G>E | No | Ensembl | |
rs2128546003 | 2177 | G>R | No | Ensembl | |
rs1775315228 | 2177 | G>V | No | Ensembl | |
rs2128545990 | 2178 | G>A | No | Ensembl | |
rs2128545990 | 2178 | G>E | No | Ensembl | |
rs2128545994 | 2178 | G>R | No | Ensembl | |
rs2128545990 | 2178 | G>V | No | Ensembl | |
rs1775315045 | 2179 | R>I | No | TOPMed | |
rs1775315045 | 2179 | R>K | No | TOPMed | |
rs2128545976 | 2179 | R>S | No | Ensembl | |
rs1775315045 | 2179 | R>T | No | TOPMed | |
rs2128545972 | 2180 | L>M | No | Ensembl | |
rs2128545969 | 2180 | L>Q | No | Ensembl | |
rs2128545969 | 2180 | L>R | No | Ensembl | |
rs2128545972 | 2180 | L>V | No | Ensembl | |
rs1281192538 | 2181 | E>D | No | gnomAD | |
COSM3619812 COSM3619813 rs2128545962 |
2181 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs2128545962 | 2181 | E>Q | No | Ensembl | |
rs760792633 | 2182 | P>A | No |
ExAC gnomAD |
|
COSM4992398 rs760792633 COSM4992399 |
2182 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs760792633 | 2182 | P>T | No |
ExAC gnomAD |
|
rs767792683 | 2183 | P>A | No |
ExAC gnomAD |
|
rs2128545939 | 2183 | P>L | No | Ensembl | |
rs2128545939 | 2183 | P>Q | No | Ensembl | |
rs2128545939 | 2183 | P>R | No | Ensembl | |
rs767792683 | 2183 | P>S | No |
ExAC gnomAD |
|
rs767792683 | 2183 | P>T | No |
ExAC gnomAD |
|
rs1224719700 | 2184 | R>* | No |
TOPMed gnomAD |
|
COSM169762 rs2128545926 COSM169763 COSM1672706 |
2184 | R>I | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
COSM3429909 COSM3429910 rs2128545926 |
2184 | R>K | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
rs2128545926 | 2184 | R>T | No | Ensembl | |
rs2128545921 | 2185 | N>D | No | Ensembl | |
rs2128545918 | 2185 | N>I | No | Ensembl | |
rs1018137213 | 2185 | N>K | No |
TOPMed gnomAD |
|
rs2128545904 | 2186 | C>* | No | Ensembl | |
rs759768879 | 2186 | C>F | No |
ExAC gnomAD |
|
rs1775313296 | 2186 | C>S | No |
TOPMed gnomAD |
|
rs1775312906 | 2187 | P>A | No | gnomAD | |
rs1775312906 | 2187 | P>S | No | gnomAD | |
COSM314883 COSM314884 rs1775312906 |
2187 | P>T | lung [Cosmic] | No |
cosmic curated gnomAD |
COSM1650497 COSM6104793 COSM594218 rs2128545883 COSM6104792 COSM594217 |
2188 | D>G | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic Ensembl |
COSM351311 COSM351312 rs1367476083 |
2188 | D>H | lung [Cosmic] | No |
cosmic curated gnomAD |
rs1367476083 | 2188 | D>N | No | gnomAD | |
rs2128545883 | 2188 | D>V | No | Ensembl | |
rs2128545874 | 2189 | D>G | No | Ensembl | |
rs2128545878 | 2189 | D>H | No | Ensembl | |
rs2128545878 COSM1697812 COSM1697811 |
2189 | D>N | skin [Cosmic] | No |
cosmic curated Ensembl |
rs2128545874 | 2189 | D>V | No | Ensembl | |
rs2128545865 | 2190 | L>Q | No | Ensembl | |
rs2128545870 | 2190 | L>V | No | Ensembl | |
rs2128537293 | 2191 | W>* | No | Ensembl | |
rs776629258 | 2191 | W>* | No |
ExAC TOPMed gnomAD |
|
rs2128537293 | 2191 | W>C | No | Ensembl | |
rs776629258 | 2191 | W>L | No |
ExAC TOPMed gnomAD |
|
rs776629258 | 2191 | W>S | No |
ExAC TOPMed gnomAD |
|
rs2128537291 | 2192 | N>I | No | Ensembl | |
rs2128537287 | 2192 | N>K | No | Ensembl | |
rs2128537281 | 2193 | L>F | No | Ensembl | |
rs1213243422 | 2194 | M>I | No |
TOPMed gnomAD |
|
rs2128537271 | 2194 | M>K | No | Ensembl | |
rs2128537271 | 2194 | M>T | No | Ensembl | |
rs2128537276 | 2194 | M>V | No | Ensembl | |
rs768649987 | 2195 | T>A | No |
ExAC TOPMed gnomAD |
|
rs140284927 | 2195 | T>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs140284927 | 2195 | T>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs768649987 | 2195 | T>S | No |
ExAC TOPMed gnomAD |
|
rs2128537231 | 2196 | Q>* | No | Ensembl | |
rs2128537231 | 2196 | Q>E | No | Ensembl | |
rs2128537223 | 2196 | Q>H | No | Ensembl | |
rs2128537217 | 2197 | C>G | No | Ensembl | |
rs2128537217 | 2197 | C>S | No | Ensembl | |
rs2128537211 | 2197 | C>S | No | Ensembl | |
rs1459039958 | 2197 | C>W | No | gnomAD | |
rs2128537211 | 2197 | C>Y | No | Ensembl | |
rs775088466 | 2198 | W>* | No |
ExAC gnomAD |
|
rs2128537189 | 2198 | W>* | No | Ensembl | |
rs2128537189 | 2198 | W>C | No | Ensembl | |
rs2128537205 | 2198 | W>G | No | Ensembl | |
rs2128537205 | 2198 | W>R | No | Ensembl | |
rs775088466 | 2198 | W>S | No |
ExAC gnomAD |
|
rs1164131685 | 2200 | Q>* | No |
TOPMed gnomAD |
|
rs1164131685 | 2200 | Q>E | No |
TOPMed gnomAD |
|
rs146680210 | 2200 | Q>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs146680210 | 2200 | Q>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs146680210 COSM1319161 COSM1319162 |
2200 | Q>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
COSM4785391 COSM1440038 |
2201 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2128537151 | 2201 | E>D | No | Ensembl | |
rs2128537161 | 2201 | E>K | No | Ensembl | |
rs2128537161 | 2201 | E>Q | No | Ensembl | |
rs2128537158 | 2201 | E>V | No | Ensembl | |
rs745498493 | 2202 | P>A | No |
ExAC TOPMed gnomAD |
|
rs1774688129 | 2202 | P>H | No | Ensembl | |
rs1774688129 | 2202 | P>L | No | Ensembl | |
rs1774688129 | 2202 | P>R | No | Ensembl | |
rs745498493 | 2202 | P>S | No |
ExAC TOPMed gnomAD |
|
rs745498493 | 2202 | P>T | No |
ExAC TOPMed gnomAD |
|
rs1774687631 | 2203 | D>E | No | TOPMed | |
rs556427413 | 2203 | D>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
VAR_041458 rs556427413 |
2203 | D>N | No |
UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2128537110 | 2203 | D>V | No | Ensembl | |
rs771313001 | 2204 | Q>* | No |
ExAC TOPMed gnomAD |
|
rs771313001 | 2204 | Q>E | No |
ExAC TOPMed gnomAD |
|
rs771313001 | 2204 | Q>K | No |
ExAC TOPMed gnomAD |
|
rs144594219 | 2204 | Q>L | No |
ESP ExAC TOPMed gnomAD |
|
rs144594219 | 2204 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
rs2128537083 | 2205 | R>* | No | Ensembl | |
rs145104466 | 2205 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs145104466 | 2205 | R>K | No |
ESP ExAC TOPMed gnomAD |
|
rs2128537068 | 2205 | R>S | No | Ensembl | |
rs145104466 | 2205 | R>T | No |
ESP ExAC TOPMed gnomAD |
|
rs2128537063 | 2206 | P>A | No | Ensembl | |
rs2128537056 | 2206 | P>L | No | Ensembl | |
rs2128537056 | 2206 | P>R | No | Ensembl | |
rs2128537063 | 2206 | P>S | No | Ensembl | |
rs2128537063 | 2206 | P>T | No | Ensembl | |
rs149949391 | 2207 | T>A | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel rs2128537038 |
2207 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
COSM4160146 rs2128537038 COSM4160147 |
2207 | T>S | thyroid [Cosmic] | No |
cosmic curated Ensembl |
COSM4160146 rs149949391 COSM4160147 |
2207 | T>S | thyroid [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
rs1051601581 | 2208 | F>C | No |
TOPMed gnomAD |
|
rs2128537028 | 2208 | F>L | No | Ensembl | |
rs2128537019 | 2209 | H>D | No | Ensembl | |
rs748687432 | 2209 | H>L | No |
ExAC TOPMed gnomAD |
|
rs2128537019 COSM4006105 COSM4006106 |
2209 | H>N | urinary_tract [Cosmic] | No |
cosmic curated Ensembl |
rs748687432 | 2209 | H>P | No |
ExAC TOPMed gnomAD |
|
rs538165958 | 2209 | H>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs748687432 | 2209 | H>R | No |
ExAC TOPMed gnomAD |
|
rs2128537019 | 2209 | H>Y | No | Ensembl | |
COSM739519 COSM1647885 COSM739518 rs1278629013 |
2210 | R>* | lung Variant assessed as Somatic; HIGH impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
rs1278629013 | 2210 | R>G | No | TOPMed | |
COSM1440036 COSM1440035 rs148104006 |
2210 | R>I | large_intestine [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs148104006 | 2210 | R>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs148104006 | 2210 | R>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2128536986 | 2211 | I>N | No | Ensembl | |
rs2128536993 | 2211 | I>V | No | Ensembl | |
rs866580908 | 2212 | Q>* | No |
TOPMed gnomAD |
|
rs866580908 | 2212 | Q>E | No |
TOPMed gnomAD |
|
rs1774684203 | 2212 | Q>H | No | Ensembl | |
rs2128536970 | 2212 | Q>L | No | Ensembl | |
rs2128536970 | 2212 | Q>R | No | Ensembl | |
VAR_041459 rs75510639 |
2213 | D>E | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs529038 | 2213 | D>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
VAR_030655 rs529038 |
2213 | D>N | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2128536949 | 2213 | D>V | No | Ensembl | |
rs529038 | 2213 | D>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2128536938 | 2214 | Q>* | No | Ensembl | |
rs2128536934 | 2214 | Q>H | No | Ensembl | |
rs2128536938 | 2214 | Q>K | No | Ensembl | |
rs1358712826 | 2215 | L>F | No | gnomAD | |
rs1383744493 | 2215 | L>H | No |
TOPMed gnomAD |
|
rs1383744493 | 2215 | L>P | No |
TOPMed gnomAD |
|
rs1358712826 | 2215 | L>V | No | gnomAD | |
COSM4504401 rs2128536920 COSM4504402 |
2216 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs2128536920 | 2216 | Q>E | No | Ensembl | |
rs373160577 | 2216 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
rs2128536912 | 2216 | Q>L | No | Ensembl | |
rs2128536912 | 2216 | Q>R | No | Ensembl | |
rs1293220338 | 2217 | L>* | No | gnomAD | |
rs2128536893 | 2217 | L>F | No | Ensembl | |
rs993857429 | 2217 | L>I | No | Ensembl | |
rs1293220338 | 2217 | L>S | No | gnomAD | |
rs376903822 | 2218 | F>L | No |
ESP TOPMed gnomAD |
|
rs2128536887 | 2218 | F>Y | No | Ensembl | |
rs1351695625 | 2219 | R>K | No | gnomAD | |
rs1351695625 | 2219 | R>T | No | gnomAD | |
rs760646608 | 2220 | N>I | No |
ExAC TOPMed gnomAD |
|
rs775605839 | 2220 | N>K | No |
ExAC gnomAD |
|
rs760646608 | 2220 | N>S | No |
ExAC TOPMed gnomAD |
|
rs2128536858 | 2221 | F>I | No | Ensembl | |
COSM6172046 COSM6172047 |
2222 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs759025806 | 2222 | F>S | No |
ExAC TOPMed gnomAD |
|
rs767110496 | 2222 | F>V | No |
ExAC gnomAD |
|
rs759025806 | 2222 | F>Y | No |
ExAC TOPMed gnomAD |
|
rs2128536843 | 2223 | L>* | No | Ensembl | |
rs2128536837 | 2223 | L>F | No | Ensembl | |
rs1475122880 | 2224 | N>H | No |
TOPMed gnomAD |
|
rs777946284 | 2224 | N>I | No | Ensembl | |
TCGA novel | 2224 | N>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs777946284 | 2224 | N>T | No | Ensembl | |
rs2128536824 | 2225 | S>C | No | Ensembl | |
rs774048022 | 2225 | S>I | No |
ExAC TOPMed gnomAD |
|
rs774048022 | 2225 | S>N | No |
ExAC TOPMed gnomAD |
|
rs2128536813 | 2225 | S>R | No | Ensembl | |
rs774048022 | 2225 | S>T | No |
ExAC TOPMed gnomAD |
|
rs2128536799 | 2227 | Y>* | No | Ensembl | |
rs565633598 | 2227 | Y>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2128536805 | 2227 | Y>N | No | Ensembl | |
rs529156 | 2228 | K>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs529156 | 2228 | K>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs529156 VAR_041460 |
2228 | K>Q | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
TCGA novel | 2228 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs619203 VAR_030656 |
2229 | S>C | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs619203 | 2229 | S>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2128536782 | 2229 | S>T | No | Ensembl | |
rs619203 | 2229 | S>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2128536751 | 2230 | R>I | No | Ensembl | |
COSM3619811 COSM3619810 rs2128536751 |
2230 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
COSM4844841 rs2128536751 COSM4844840 |
2230 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs1341332039 | 2231 | D>E | No |
TOPMed gnomAD |
|
rs2128536742 | 2231 | D>H | No | Ensembl | |
rs2128536742 | 2231 | D>N | No | Ensembl | |
rs2128536742 | 2231 | D>Y | No | Ensembl | |
rs1275344272 COSM4844545 COSM4844544 |
2232 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs2128536717 | 2232 | E>D | No | Ensembl | |
COSM1440033 COSM4783153 COSM1440034 rs1774677457 |
2232 | E>G | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic TOPMed gnomAD |
rs1275344272 RCV001728069 |
2232 | E>K | No |
ClinVar dbSNP gnomAD |
|
rs1275344272 | 2232 | E>Q | No | gnomAD | |
rs1774677457 | 2232 | E>V | No |
TOPMed gnomAD |
|
rs748632361 | 2233 | A>E | No |
ExAC gnomAD |
|
rs748632361 | 2233 | A>G | No |
ExAC gnomAD |
|
rs1385257970 | 2233 | A>P | No |
TOPMed gnomAD |
|
rs1385257970 | 2233 | A>S | No |
TOPMed gnomAD |
|
rs1385257970 | 2233 | A>T | No |
TOPMed gnomAD |
|
rs748632361 | 2233 | A>V | No |
ExAC gnomAD |
|
rs1053611030 | 2234 | N>D | No |
TOPMed gnomAD |
|
COSM450397 COSM1224150 COSM1224151 rs2128536688 COSM450396 COSM4814528 |
2234 | N>K | Variant assessed as Somatic; MODERATE impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
cosmic curated Ensembl NCI-TCGA Cosmic |
rs2128536699 | 2234 | N>T | No | Ensembl | |
rs1053611030 | 2234 | N>Y | No |
TOPMed gnomAD |
|
rs781709699 | 2235 | N>I | No |
ExAC TOPMed gnomAD |
|
rs2128536673 | 2235 | N>K | No | Ensembl | |
rs781709699 | 2235 | N>S | No |
ExAC TOPMed gnomAD |
|
rs781709699 | 2235 | N>T | No |
ExAC TOPMed gnomAD |
|
rs2128536684 | 2235 | N>Y | No | Ensembl | |
rs2128536671 | 2236 | S>C | No | Ensembl | |
rs368902897 | 2236 | S>N | No |
ESP ExAC TOPMed gnomAD |
|
rs746997621 | 2236 | S>R | No |
ExAC TOPMed gnomAD |
|
rs368902897 | 2236 | S>T | No |
ESP ExAC TOPMed gnomAD |
|
rs2128536656 | 2237 | G>* | No | Ensembl | |
rs564889461 | 2237 | G>A | No |
1000Genomes ExAC gnomAD |
|
rs564889461 COSM3619809 COSM3619808 |
2237 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA gnomAD |
rs2128536656 | 2237 | G>R | No | Ensembl | |
rs2128536646 | 2238 | V>A | No | Ensembl | |
rs2128536646 | 2238 | V>D | No | Ensembl | |
rs2128536651 | 2238 | V>L | No | Ensembl | |
rs2128536632 | 2239 | I>K | No | Ensembl | |
rs2128536636 | 2239 | I>L | No | Ensembl | |
rs2128536623 | 2239 | I>M | No | Ensembl | |
rs2128536636 | 2239 | I>V | No | Ensembl | |
VAR_030657 rs210968 |
2240 | N>K | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM3619807 rs2128536614 COSM3619806 |
2241 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs2128536614 | 2241 | E>Q | No | Ensembl | |
rs1774675235 COSM3619805 COSM3619804 |
2242 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
rs1774675235 | 2242 | S>G | No | TOPMed | |
rs1310399838 | 2242 | S>R | No | gnomAD | |
rs750686582 | 2242 | S>T | No |
ExAC TOPMed gnomAD |
|
rs2128536594 | 2243 | F>L | No | Ensembl | |
rs2128536601 | 2243 | F>Y | No | Ensembl | |
rs1466970576 | 2244 | E>D | No | Ensembl | |
rs1774674564 | 2244 | E>Q | No |
TOPMed gnomAD |
|
rs148710046 | 2245 | G>A | No |
ESP ExAC gnomAD |
|
rs148710046 | 2245 | G>D | No |
ESP ExAC gnomAD |
|
rs142264513 | 2245 | G>S | No |
1000Genomes ESP TOPMed gnomAD |
|
TCGA novel rs148710046 |
2245 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ESP ExAC gnomAD |
rs1582513438 | 2246 | E>D | No | Ensembl | |
rs1412107750 | 2246 | E>K | No |
TOPMed gnomAD |
|
rs1412107750 | 2246 | E>Q | No |
TOPMed gnomAD |
|
rs2128521408 | 2247 | D>E | No | Ensembl | |
rs2128521409 | 2247 | D>G | No | Ensembl | |
rs2128521409 | 2247 | D>V | No | Ensembl | |
COSM1072505 COSM4866554 |
2247 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2128521397 | 2248 | G>A | No | Ensembl | |
rs2128521397 | 2248 | G>D | No | Ensembl | |
rs2128521404 | 2248 | G>R | No | Ensembl | |
rs2128521404 | 2248 | G>S | No | Ensembl | |
rs2128521397 | 2248 | G>V | No | Ensembl | |
rs2128521382 | 2249 | D>E | No | Ensembl | |
rs369184938 | 2249 | D>H | No |
ESP ExAC TOPMed gnomAD |
|
COSM1072502 rs369184938 COSM1072500 COSM4868878 |
2249 | D>N | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs2128521387 | 2249 | D>V | No | Ensembl | |
rs369184938 | 2249 | D>Y | No |
ESP ExAC TOPMed gnomAD |
|
rs1304088293 | 2250 | V>A | No |
TOPMed gnomAD |
|
rs1304088293 | 2250 | V>E | No |
TOPMed gnomAD |
|
rs1304088293 | 2250 | V>G | No |
TOPMed gnomAD |
|
rs2128521376 | 2250 | V>L | No | Ensembl | |
rs2128521376 | 2250 | V>M | No | Ensembl | |
rs2128521367 | 2251 | I>F | No | Ensembl | |
rs2128521367 | 2251 | I>V | No | Ensembl | |
rs1200820127 | 2252 | C>* | No | gnomAD | |
rs779954823 | 2252 | C>F | No |
ExAC TOPMed gnomAD |
|
rs779954823 | 2252 | C>S | No |
ExAC TOPMed gnomAD |
|
rs2128521361 | 2252 | C>S | No | Ensembl | |
rs1200820127 | 2252 | C>W | No | gnomAD | |
rs779954823 | 2252 | C>Y | No |
ExAC TOPMed gnomAD |
|
rs2128521346 | 2253 | L>* | No | Ensembl | |
rs2128521342 | 2254 | N>D | No | Ensembl | |
rs772230848 | 2254 | N>I | No |
ExAC gnomAD |
|
rs2128521336 | 2254 | N>K | No | Ensembl | |
rs772230848 | 2254 | N>S | No |
ExAC gnomAD |
|
rs2128521342 | 2254 | N>Y | No | Ensembl | |
rs538891848 | 2255 | S>* | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs538891848 | 2255 | S>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs547573917 | 2255 | S>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2128521319 | 2256 | D>E | No | Ensembl | |
rs2128521324 | 2256 | D>H | No | Ensembl | |
rs2128521324 | 2256 | D>N | No | Ensembl | |
rs755967485 | 2256 | D>V | No |
ExAC gnomAD |
|
rs2128521324 | 2256 | D>Y | No | Ensembl | |
rs754820794 | 2257 | D>E | No |
ExAC TOPMed gnomAD |
|
rs375010729 | 2257 | D>G | No |
ESP ExAC TOPMed gnomAD |
|
rs144393305 | 2257 | D>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs144393305 | 2257 | D>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs375010729 | 2257 | D>V | No |
ESP ExAC TOPMed gnomAD |
|
rs144393305 | 2257 | D>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs954647191 | 2258 | I>L | No |
TOPMed gnomAD |
|
rs751557733 | 2258 | I>T | No |
ExAC TOPMed gnomAD |
|
rs954647191 | 2258 | I>V | No |
TOPMed gnomAD |
|
rs2128521294 | 2259 | M>I | No | Ensembl | |
rs2128521297 | 2259 | M>K | No | Ensembl | |
rs1195270053 | 2260 | P>A | No | Ensembl | |
rs2128521281 | 2260 | P>L | No | Ensembl | |
rs2128521281 | 2260 | P>Q | No | Ensembl | |
rs2128521281 | 2260 | P>R | No | Ensembl | |
rs1195270053 COSM1072499 COSM1072497 COSM4139066 |
2260 | P>S | ovary Variant assessed as Somatic; MODERATE impact. endometrium [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic Ensembl |
rs1195270053 | 2260 | P>T | No | Ensembl | |
rs552282840 | 2261 | V>D | No | 1000Genomes | |
rs371313465 | 2261 | V>F | No |
ESP ExAC TOPMed gnomAD |
|
rs371313465 | 2261 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
rs371313465 | 2261 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
rs2128521265 | 2262 | A>G | No | Ensembl | |
rs2128521268 | 2262 | A>P | No | Ensembl | |
rs2128521268 | 2262 | A>S | No | Ensembl | |
rs2128521265 | 2262 | A>V | No | Ensembl | |
rs2128521250 | 2263 | L>* | No | Ensembl | |
rs2128521253 | 2263 | L>I | No | Ensembl | |
COSM3619802 COSM3619803 rs761470868 |
2264 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC gnomAD NCI-TCGA Cosmic NCI-TCGA |
rs764807682 | 2264 | M>K | No |
ExAC TOPMed |
|
rs750075965 | 2264 | M>L | No |
ExAC gnomAD |
|
rs764807682 | 2264 | M>T | No |
ExAC TOPMed |
|
rs201673653 | 2265 | E>* | No |
ExAC TOPMed gnomAD |
|
rs149630222 | 2265 | E>D | No |
ESP ExAC TOPMed gnomAD |
|
rs201673653 | 2265 | E>K | No |
ExAC TOPMed gnomAD |
|
rs201673653 | 2265 | E>Q | No |
ExAC TOPMed gnomAD |
|
rs781588795 | 2266 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs2128521226 | 2266 | T>S | No | Ensembl | |
rs2128521216 | 2267 | K>M | No | Ensembl | |
rs138446817 | 2267 | K>N | No |
ESP ExAC TOPMed gnomAD |
|
rs2128521216 | 2267 | K>R | No | Ensembl | |
rs1187748126 | 2268 | N>I | No | gnomAD | |
rs746010215 | 2268 | N>K | No |
ExAC gnomAD |
|
rs1187748126 COSM3619800 COSM3619801 |
2268 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs2128521214 | 2268 | N>Y | No | Ensembl | |
rs202153378 COSM4166710 COSM4166711 |
2269 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs202153378 | 2269 | R>G | No |
ExAC TOPMed gnomAD |
|
rs771217753 | 2269 | R>L | No |
ExAC TOPMed gnomAD |
|
rs771217753 | 2269 | R>P | No |
ExAC TOPMed gnomAD |
|
rs771217753 | 2269 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
COSM371982 | 2270 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1355743227 | 2270 | E>D | No | gnomAD | |
rs2128521196 | 2270 | E>G | No | Ensembl | |
COSM249317 COSM249318 rs1302341778 |
2270 | E>K | kidney [Cosmic] | No |
cosmic curated TOPMed |
rs1302341778 | 2270 | E>Q | No | TOPMed | |
rs2128521196 | 2270 | E>V | No | Ensembl | |
rs749542060 | 2271 | G>A | No |
ExAC TOPMed gnomAD |
|
COSM229499 rs749542060 COSM229500 |
2271 | G>E | skin [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs1773608412 COSM3920635 COSM3920636 |
2271 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
TOPMed NCI-TCGA Cosmic |
rs749542060 | 2271 | G>V | No |
ExAC TOPMed gnomAD |
|
rs1773608412 | 2271 | G>W | No | TOPMed | |
rs2128521170 | 2272 | L>* | No | Ensembl | |
rs2128521168 | 2272 | L>F | No | Ensembl | |
rs1747701150 | 2272 | L>I | No | TOPMed | |
rs2128521170 | 2272 | L>S | No | Ensembl | |
rs1747701150 | 2272 | L>V | No | TOPMed | |
rs2128521166 | 2273 | N>D | No | Ensembl | |
rs1773607883 | 2273 | N>I | No | Ensembl | |
rs1773607883 | 2273 | N>S | No | Ensembl | |
rs754854156 | 2274 | Y>* | No |
ExAC gnomAD |
|
rs780819532 | 2274 | Y>C | No |
ExAC gnomAD |
|
rs1773607698 | 2274 | Y>H | No | TOPMed | |
rs1773607698 | 2274 | Y>N | No | TOPMed | |
rs2128521155 | 2275 | M>I | No | Ensembl | |
rs751439620 | 2275 | M>K | No |
ExAC gnomAD |
|
TCGA novel | 2275 | M>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs751439620 | 2275 | M>T | No |
ExAC gnomAD |
|
TCGA novel rs1773606797 |
2276 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs1773606797 | 2276 | V>L | No | TOPMed | |
rs1406518415 | 2277 | L>F | No |
TOPMed gnomAD |
|
rs2128521144 | 2277 | L>H | No | Ensembl | |
rs1406518415 | 2277 | L>I | No |
TOPMed gnomAD |
|
rs1406518415 | 2277 | L>V | No |
TOPMed gnomAD |
|
rs958426252 | 2278 | A>D | No | Ensembl | |
rs1297293945 | 2278 | A>P | No | gnomAD | |
rs1297293945 | 2278 | A>S | No | gnomAD | |
rs1297293945 | 2278 | A>T | No | gnomAD | |
rs374450773 | 2279 | T>A | No |
ESP TOPMed gnomAD |
|
rs183984056 | 2279 | T>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs374450773 | 2279 | T>P | No |
ESP TOPMed gnomAD |
|
rs183984056 | 2279 | T>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs374450773 | 2279 | T>S | No |
ESP TOPMed gnomAD |
|
rs1319948197 | 2280 | E>* | No | gnomAD | |
rs2128521103 | 2280 | E>D | No | Ensembl | |
rs1319948197 | 2280 | E>K | No | gnomAD | |
rs1319948197 | 2280 | E>Q | No | gnomAD | |
rs2128521104 | 2280 | E>V | No | Ensembl | |
rs2128521092 | 2281 | C>* | No | Ensembl | |
rs758340327 | 2281 | C>S | No |
ExAC gnomAD |
|
rs2128521092 | 2281 | C>W | No | Ensembl | |
rs758340327 | 2281 | C>Y | No |
ExAC gnomAD |
|
rs41291918 | 2282 | G>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2128521091 | 2282 | G>C | No | Ensembl | |
rs41291918 | 2282 | G>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2128521091 | 2282 | G>R | No | Ensembl | |
rs2128521091 | 2282 | G>S | No | Ensembl | |
rs41291918 | 2282 | G>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2128521082 | 2283 | Q>* | No | Ensembl | |
rs2128521082 | 2283 | Q>E | No | Ensembl | |
rs1299949449 | 2283 | Q>H | No | gnomAD | |
rs2128521082 | 2283 | Q>K | No | Ensembl | |
rs1164075306 | 2283 | Q>R | No | gnomAD | |
rs764751833 | 2284 | G>A | No |
ExAC TOPMed gnomAD |
|
rs2128521066 | 2284 | G>C | No | Ensembl | |
COSM284671 COSM5438007 rs764751833 COSM284672 |
2284 | G>D | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs2128521066 | 2284 | G>R | No | Ensembl | |
rs2128521066 | 2284 | G>S | No | Ensembl | |
rs764751833 | 2284 | G>V | No |
ExAC TOPMed gnomAD |
|
rs1442895655 | 2285 | E>* | No | gnomAD | |
rs2128521050 | 2285 | E>D | No | Ensembl | |
rs1442895655 | 2285 | E>K | No | gnomAD | |
rs1442895655 | 2285 | E>Q | No | gnomAD | |
rs2128521046 | 2286 | E>K | No | Ensembl | |
rs2128521046 | 2286 | E>Q | No | Ensembl | |
rs2128521038 | 2286 | E>V | No | Ensembl | |
rs2128521036 | 2287 | K>R | No | Ensembl | |
COSM1264502 | 2287 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1306014510 | 2288 | S>C | No |
TOPMed gnomAD |
|
rs1306014510 | 2288 | S>F | No |
TOPMed gnomAD |
|
rs1167721609 | 2288 | S>P | No | gnomAD | |
rs1167721609 | 2288 | S>T | No | gnomAD | |
rs1306014510 | 2288 | S>Y | No |
TOPMed gnomAD |
|
rs2128521026 | 2289 | E>* | No | Ensembl | |
rs2128521014 | 2289 | E>D | No | Ensembl | |
rs2128521022 | 2289 | E>G | No | Ensembl | |
rs2128521026 | 2289 | E>K | No | Ensembl | |
rs2128521026 | 2289 | E>Q | No | Ensembl | |
rs2128521022 | 2289 | E>V | No | Ensembl | |
rs200558565 | 2290 | G>A | No |
TOPMed gnomAD |
|
rs200558565 | 2290 | G>D | No |
TOPMed gnomAD |
|
rs200558565 | 2290 | G>V | No |
TOPMed gnomAD |
|
rs2128521000 | 2291 | P>L | No | Ensembl | |
rs2128521000 | 2291 | P>R | No | Ensembl | |
rs1291536074 | 2292 | L>I | No |
TOPMed gnomAD |
|
rs1291536074 | 2292 | L>V | No |
TOPMed gnomAD |
|
rs2128520982 | 2293 | G>A | No | Ensembl | |
rs1664453826 | 2293 | G>C | No | Ensembl | |
rs2128520982 | 2293 | G>D | No | Ensembl | |
rs1664453826 | 2293 | G>R | No | Ensembl | |
rs1664453826 | 2293 | G>S | No | Ensembl | |
rs2128520982 | 2293 | G>V | No | Ensembl | |
rs2128520969 | 2294 | S>C | No | Ensembl | |
COSM4401922 COSM4401923 rs2128520969 |
2294 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs2128520974 | 2294 | S>T | No | Ensembl | |
rs1773601729 | 2295 | Q>* | No | TOPMed | |
rs1773601729 | 2295 | Q>E | No | TOPMed | |
COSM3619796 COSM3619797 rs2128520960 |
2295 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA Cosmic |
rs2128520949 | 2296 | E>D | No | Ensembl | |
rs2128520951 | 2296 | E>G | No | Ensembl | |
rs761155034 COSM739520 COSM739521 COSM1647886 |
2296 | E>K | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
rs761155034 | 2296 | E>Q | No |
ExAC gnomAD |
|
rs2128520951 | 2296 | E>V | No | Ensembl | |
rs2128520942 | 2297 | S>C | No | Ensembl | |
rs2128520942 | 2297 | S>F | No | Ensembl | |
rs2128520946 | 2297 | S>T | No | Ensembl | |
rs2128520942 | 2297 | S>Y | No | Ensembl | |
rs543882573 | 2298 | E>D | No |
ExAC TOPMed gnomAD |
|
COSM3619795 COSM3619794 rs1451070985 |
2298 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs1451070985 | 2298 | E>Q | No | gnomAD | |
rs1268176818 | 2298 | E>V | No | gnomAD | |
rs952691474 | 2299 | S>A | No | Ensembl | |
rs2128520924 | 2299 | S>C | No | Ensembl | |
rs2128520924 | 2299 | S>F | No | Ensembl | |
rs952691474 | 2299 | S>P | No | Ensembl | |
rs952691474 | 2299 | S>T | No | Ensembl | |
rs1773599439 | 2300 | C>* | No | Ensembl | |
rs1162487585 | 2300 | C>F | No | gnomAD | |
rs1267697295 | 2300 | C>R | No | Ensembl | |
rs1162487585 | 2300 | C>S | No | gnomAD | |
rs1773599439 | 2300 | C>W | No | Ensembl | |
rs1162487585 | 2300 | C>Y | No | gnomAD | |
rs2128520903 | 2301 | G>A | No | Ensembl | |
rs2128520903 TCGA novel |
2301 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs2128520903 | 2301 | G>V | No | Ensembl | |
rs1773599085 | 2302 | L>M | No | Ensembl | |
rs2128520896 | 2302 | L>P | No | Ensembl | |
rs1773599085 | 2302 | L>V | No | Ensembl | |
rs2128520887 | 2303 | R>K | No | Ensembl | |
rs2128520887 | 2303 | R>M | No | Ensembl | |
rs2128520887 | 2303 | R>T | No | Ensembl | |
rs2128520883 | 2304 | K>* | No | Ensembl | |
rs2128520883 | 2304 | K>E | No | Ensembl | |
rs2128520877 | 2304 | K>N | No | Ensembl | |
rs141670885 | 2305 | E>* | No |
ESP ExAC TOPMed gnomAD |
|
rs2128520866 | 2305 | E>D | No | Ensembl | |
rs1773598163 | 2305 | E>G | No | TOPMed | |
rs141670885 | 2305 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
rs141670885 | 2305 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs1773597884 | 2306 | E>* | No | TOPMed | |
rs2128520853 | 2306 | E>D | No | Ensembl | |
rs760133473 | 2306 | E>G | No |
ExAC gnomAD |
|
rs1773597884 | 2306 | E>K | No | TOPMed | |
rs1773597884 | 2306 | E>Q | No | TOPMed | |
rs2128520849 | 2307 | K>* | No | Ensembl | |
rs2128520844 | 2307 | K>M | No | Ensembl | |
TCGA novel rs2128520836 |
2307 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs2128520844 | 2307 | K>R | No | Ensembl | |
rs2128520828 | 2308 | E>D | No | Ensembl | |
COSM3920634 rs2128520834 COSM3920633 |
2308 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
COSM483316 COSM1645908 |
2308 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2128520831 | 2308 | E>V | No | Ensembl | |
rs1271530026 | 2309 | P>A | No | gnomAD | |
rs199825447 | 2309 | P>L | No | Ensembl | |
rs199825447 | 2309 | P>R | No | Ensembl | |
rs1271530026 | 2309 | P>S | No | gnomAD | |
rs1271530026 | 2309 | P>T | No | gnomAD | |
rs2128520819 | 2310 | H>D | No | Ensembl | |
rs1409586765 | 2310 | H>L | No | gnomAD | |
rs1409586765 COSM4930667 COSM4930666 |
2310 | H>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic gnomAD |
rs2128520811 | 2310 | H>Q | No | Ensembl | |
rs1409586765 | 2310 | H>R | No | gnomAD | |
rs1773596227 | 2311 | A>G | No | Ensembl | |
rs1773596532 | 2311 | A>P | No | Ensembl | |
rs1773596532 | 2311 | A>S | No | Ensembl | |
rs1773596532 | 2311 | A>T | No | Ensembl | |
rs1773596227 | 2311 | A>V | No | Ensembl | |
rs2128520788 | 2312 | D>E | No | Ensembl | |
rs774522126 | 2312 | D>G | No |
ExAC gnomAD |
|
rs2128520793 | 2312 | D>H | No | Ensembl | |
rs2128520793 | 2312 | D>N | No | Ensembl | |
rs774522126 | 2312 | D>V | No |
ExAC gnomAD |
|
rs2128520793 | 2312 | D>Y | No | Ensembl | |
rs2128520775 | 2314 | D>E | No | Ensembl | |
rs771164515 | 2314 | D>H | No |
ExAC gnomAD |
|
rs771164515 | 2314 | D>N | No |
ExAC gnomAD |
|
rs2128520776 | 2314 | D>V | No | Ensembl | |
rs771164515 | 2314 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs2128520772 | 2315 | F>I | No | Ensembl | |
rs2128520772 | 2315 | F>L | No | Ensembl | |
rs1773595131 | 2315 | F>L | No |
TOPMed gnomAD |
|
rs199971914 | 2315 | F>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs199971914 | 2315 | F>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2128520750 | 2316 | C>* | No | Ensembl | |
rs773542381 | 2316 | C>F | No |
ExAC gnomAD |
|
rs773542381 | 2316 | C>S | No |
ExAC gnomAD |
|
rs2128520762 | 2316 | C>S | No | Ensembl | |
rs2128520750 | 2316 | C>W | No | Ensembl | |
rs773542381 | 2316 | C>Y | No |
ExAC gnomAD |
|
rs2128520741 | 2317 | Q>* | No | Ensembl | |
rs2128520741 | 2317 | Q>E | No | Ensembl | |
rs2128520740 | 2317 | Q>H | No | Ensembl | |
rs2128520741 | 2317 | Q>K | No | Ensembl | |
rs768332561 | 2318 | E>* | No |
ExAC TOPMed gnomAD |
|
rs1307353332 | 2318 | E>G | No | gnomAD | |
rs768332561 | 2318 | E>K | No |
ExAC TOPMed gnomAD |
|
rs768332561 | 2318 | E>Q | No |
ExAC TOPMed gnomAD |
|
rs2128520731 | 2319 | K>E | No | Ensembl | |
rs1430357922 | 2319 | K>N | No | Ensembl | |
rs746755507 | 2320 | Q>* | No |
ExAC TOPMed |
|
rs779731708 | 2320 | Q>H | No |
ExAC TOPMed gnomAD |
|
rs1773593720 | 2320 | Q>R | No | TOPMed | |
rs756068637 | 2320 | Q>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1773593324 | 2321 | V>A | No | gnomAD | |
rs1773593324 | 2321 | V>E | No | gnomAD | |
rs1773593324 | 2321 | V>G | No | gnomAD | |
rs2128520707 | 2321 | V>L | No | Ensembl | |
rs2128520707 | 2321 | V>M | No | Ensembl | |
rs559726522 | 2322 | A>P | No |
1000Genomes ExAC gnomAD |
|
rs559726522 | 2322 | A>S | No |
1000Genomes ExAC gnomAD |
|
COSM4403686 COSM4403687 rs559726522 |
2322 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA gnomAD |
rs2128520680 | 2323 | Y>* | No | Ensembl | |
rs2128520687 | 2323 | Y>D | No | Ensembl | |
rs1477810013 | 2323 | Y>F | No | gnomAD | |
rs1773592818 | 2324 | C>F | No | Ensembl | |
rs2128520676 | 2324 | C>S | No | Ensembl | |
rs1773592818 | 2324 | C>S | No | Ensembl | |
rs1459307793 | 2324 | C>W | No | TOPMed | |
rs1773592818 | 2324 | C>Y | No | Ensembl | |
rs2128520668 | 2325 | P>A | No | Ensembl | |
rs2128520664 | 2325 | P>L | No | Ensembl | |
rs2128520664 | 2325 | P>R | No | Ensembl | |
rs2128520668 | 2325 | P>S | No | Ensembl | |
rs1430294646 | 2326 | S>C | No | gnomAD | |
COSM3828887 rs1430294646 COSM3828888 |
2326 | S>F | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs2128520660 | 2326 | S>T | No | Ensembl | |
rs1430294646 | 2326 | S>Y | No | gnomAD | |
rs1039978685 | 2327 | G>A | No |
TOPMed gnomAD |
|
rs372807954 | 2327 | G>C | No |
ESP ExAC TOPMed gnomAD |
|
rs1039978685 | 2327 | G>D | No |
TOPMed gnomAD |
|
rs372807954 | 2327 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
rs372807954 | 2327 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
rs1039978685 | 2327 | G>V | No |
TOPMed gnomAD |
|
rs35932630 | 2328 | K>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1439867576 | 2328 | K>N | No |
TOPMed gnomAD |
|
VAR_049713 rs35932630 RCV000963870 |
2328 | K>R | No |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs143434059 | 2329 | P>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1773591322 | 2329 | P>H | No | TOPMed | |
rs1773591322 | 2329 | P>L | No | TOPMed | |
rs1773591322 | 2329 | P>R | No | TOPMed | |
rs143434059 | 2329 | P>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs143434059 | 2329 | P>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2128520612 | 2330 | E>D | No | Ensembl | |
rs2128520617 | 2330 | E>G | No | Ensembl | |
rs2128520620 | 2330 | E>K | No | Ensembl | |
rs2128520620 | 2330 | E>Q | No | Ensembl | |
rs2128520617 | 2330 | E>V | No | Ensembl | |
rs2128520603 | 2331 | G>A | No | Ensembl | |
rs2128520609 | 2331 | G>C | No | Ensembl | |
rs2128520603 | 2331 | G>D | No | Ensembl | |
rs2128520609 | 2331 | G>R | No | Ensembl | |
rs2128520603 | 2331 | G>V | No | Ensembl | |
rs2128520598 | 2332 | L>M | No | Ensembl | |
rs2128520596 | 2332 | L>P | No | Ensembl | |
rs2128520596 | 2332 | L>Q | No | Ensembl | |
rs2128520598 | 2332 | L>V | No | Ensembl | |
rs2128520584 | 2333 | N>K | No | Ensembl | |
rs2128520591 | 2333 | N>S | No | Ensembl | |
rs2128520580 | 2334 | Y>* | No | Ensembl | |
rs755725202 | 2334 | Y>C | No |
ExAC gnomAD |
|
rs755725202 | 2334 | Y>F | No |
ExAC gnomAD |
|
rs2128520582 | 2334 | Y>H | No | Ensembl | |
rs2128520582 | 2334 | Y>N | No | Ensembl | |
rs2128520571 | 2335 | A>D | No | Ensembl | |
rs2128520571 | 2335 | A>G | No | Ensembl | |
rs2128520576 | 2335 | A>P | No | Ensembl | |
rs2128520576 | 2335 | A>T | No | Ensembl | |
rs2128520571 | 2335 | A>V | No | Ensembl | |
rs565221390 | 2336 | C>* | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2128520562 | 2336 | C>F | No | Ensembl | |
rs2128520566 | 2336 | C>R | No | Ensembl | |
rs2128520562 | 2336 | C>S | No | Ensembl | |
rs565221390 | 2336 | C>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2128520552 | 2337 | L>F | No | Ensembl | |
rs2128520547 | 2337 | L>H | No | Ensembl | |
rs2128520547 | 2337 | L>P | No | Ensembl | |
rs2128520552 | 2337 | L>V | No | Ensembl | |
rs1773589751 | 2338 | T>A | No | Ensembl | |
rs1773589751 | 2338 | T>S | No | Ensembl | |
rs2128520531 | 2338 | T>S | No | Ensembl | |
rs2128520524 | 2339 | H>D | No | Ensembl | |
rs200900115 | 2339 | H>L | No |
ExAC gnomAD |
|
rs2128520524 | 2339 | H>N | No | Ensembl | |
rs200900115 | 2339 | H>P | No |
ExAC gnomAD |
|
rs2128520512 | 2339 | H>Q | No | Ensembl | |
rs2128520524 | 2339 | H>Y | No | Ensembl | |
rs2128520502 | 2340 | S>N | No | Ensembl | |
rs760078455 | 2340 | S>R | No |
ExAC gnomAD |
|
rs2128520502 | 2340 | S>T | No | Ensembl | |
rs2128520493 TCGA novel |
2341 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs1442866318 | 2341 | G>R | No |
TOPMed gnomAD |
|
rs2128520482 | 2342 | Y>* | No | Ensembl | |
COSM267349 | 2342 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2128520487 | 2342 | Y>N | No | Ensembl | |
rs2128520474 | 2343 | G>A | No | Ensembl | |
rs2128520474 | 2343 | G>E | No | Ensembl | |
rs2128520478 | 2343 | G>R | No | Ensembl | |
rs2128520474 | 2343 | G>V | No | Ensembl | |
rs1266344795 | 2344 | D>E | No | TOPMed | |
rs766555708 | 2344 | D>H | No |
ExAC TOPMed gnomAD |
|
rs766555708 | 2344 | D>N | No |
ExAC TOPMed gnomAD |
|
rs766555708 | 2344 | D>Y | No |
ExAC TOPMed gnomAD |
|
rs371063080 | 2345 | G>A | No |
ESP ExAC TOPMed gnomAD |
|
rs371063080 | 2345 | G>E | No |
ESP ExAC TOPMed gnomAD |
|
rs2128520466 | 2345 | G>R | No | Ensembl | |
rs371063080 | 2345 | G>V | No |
ESP ExAC TOPMed gnomAD |
|
rs2128520458 | 2346 | S>A | No | Ensembl | |
rs1178874356 | 2346 | S>C | No |
TOPMed gnomAD |
|
rs2128520458 | 2346 | S>P | No | Ensembl | |
rs2128520458 | 2346 | S>T | No | Ensembl | |
rs2128520441 | 2347 | D>E | No | Ensembl | |
rs2128520449 | 2347 | D>H | No | Ensembl | |
rs2128520449 | 2347 | D>N | No | Ensembl | |
rs2128520445 | 2347 | D>V | No | Ensembl | |
rs2128520438 | 2348 | D>K | No | Ensembl | |
rs2128520435 COSM291293 |
2348 | D>Y | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
1 associated diseases with P08922
Without disease ID
19 regional properties for P08922
Type | Name | Position | InterPro Accession |
---|---|---|---|
repeat | LDLR class B repeat | 359 - 399 | IPR000033-1 |
repeat | LDLR class B repeat | 697 - 736 | IPR000033-2 |
repeat | LDLR class B repeat | 738 - 780 | IPR000033-3 |
repeat | LDLR class B repeat | 781 - 819 | IPR000033-4 |
domain | Protein kinase domain | 1945 - 2222 | IPR000719 |
domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 1948 - 2215 | IPR001245 |
conserved_site | Tyrosine-protein kinase, receptor class II, conserved site | 2108 - 2116 | IPR002011 |
domain | Fibronectin type III | 99 - 196 | IPR003961-1 |
domain | Fibronectin type III | 195 - 285 | IPR003961-2 |
domain | Fibronectin type III | 557 - 671 | IPR003961-3 |
domain | Fibronectin type III | 948 - 1028 | IPR003961-4 |
domain | Fibronectin type III | 1041 - 1150 | IPR003961-5 |
domain | Fibronectin type III | 1469 - 1539 | IPR003961-6 |
domain | Fibronectin type III | 1557 - 1656 | IPR003961-7 |
domain | Fibronectin type III | 1658 - 1751 | IPR003961-8 |
domain | Fibronectin type III | 1753 - 1842 | IPR003961-9 |
active_site | Tyrosine-protein kinase, active site | 2075 - 2087 | IPR008266 |
binding_site | Protein kinase, ATP binding site | 1951 - 1980 | IPR017441 |
domain | Tyrosine-protein kinase, catalytic domain | 1945 - 2215 | IPR020635 |
Functions
Description | ||
---|---|---|
EC Number | 2.7.10.1 | Protein-tyrosine kinases |
Subcellular Localization |
|
|
PANTHER Family | ||
PANTHER Subfamily | ||
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
3 GO annotations of cellular component
Name | Definition |
---|---|
membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
receptor complex | Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
4 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
protein phosphatase binding | Binding to a protein phosphatase. |
protein tyrosine kinase activity | Catalysis of the reaction |
transmembrane receptor protein tyrosine kinase activity | Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction |
8 GO annotations of biological process
Name | Definition |
---|---|
cell differentiation | The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
columnar/cuboidal epithelial cell development | The process whose specific outcome is the progression of a columnar/cuboidal epithelial cell over time, from its formation to the mature structure. A columnar/cuboidal epithelial cell is a cell usually found in a two dimensional sheet with a free surface. Columnar/cuboidal epithelial cells take on the shape of a column or cube. |
protein phosphorylation | The process of introducing a phosphate group on to a protein. |
regulation of cell growth | Any process that modulates the frequency, rate, extent or direction of cell growth. |
regulation of ERK1 and ERK2 cascade | Any process that modulates the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
regulation of TOR signaling | Any process that modulates the frequency, rate or extent of TOR signaling. |
spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
transmembrane receptor protein tyrosine kinase signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription. |
53 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q769I5 | MET | Hepatocyte growth factor receptor | Bos taurus (Bovine) | PR |
A0M8S8 | MET | Hepatocyte growth factor receptor | Felis catus (Cat) (Felis silvestris catus) | PR |
P14616 | INSRR | Insulin receptor-related protein | Homo sapiens (Human) | SS |
Q9UM73 | ALK | ALK tyrosine kinase receptor | Homo sapiens (Human) | EV |
Q06418 | TYRO3 | Tyrosine-protein kinase receptor TYRO3 | Homo sapiens (Human) | SS |
P08069 | IGF1R | Insulin-like growth factor 1 receptor | Homo sapiens (Human) | EV |
Q12866 | MERTK | Tyrosine-protein kinase Mer | Homo sapiens (Human) | EV |
Q01974 | ROR2 | Tyrosine-protein kinase transmembrane receptor ROR2 | Homo sapiens (Human) | EV |
P07949 | RET | Proto-oncogene tyrosine-protein kinase receptor Ret | Homo sapiens (Human) | EV |
O15146 | MUSK | Muscle, skeletal receptor tyrosine-protein kinase | Homo sapiens (Human) | EV |
Q01973 | ROR1 | Inactive tyrosine-protein kinase transmembrane receptor ROR1 | Homo sapiens (Human) | PR |
Q16832 | DDR2 | Discoidin domain-containing receptor 2 | Homo sapiens (Human) | SS |
Q08345 | DDR1 | Epithelial discoidin domain-containing receptor 1 | Homo sapiens (Human) | EV |
Q16620 | NTRK2 | BDNF/NT-3 growth factors receptor | Homo sapiens (Human) | EV |
P04629 | NTRK1 | High affinity nerve growth factor receptor | Homo sapiens (Human) | EV |
Q16288 | NTRK3 | NT-3 growth factor receptor | Homo sapiens (Human) | SS |
P35916 | FLT4 | Vascular endothelial growth factor receptor 3 | Homo sapiens (Human) | SS |
P17948 | FLT1 | Vascular endothelial growth factor receptor 1 | Homo sapiens (Human) | SS |
P35968 | KDR | Vascular endothelial growth factor receptor 2 | Homo sapiens (Human) | EV |
P29317 | EPHA2 | Ephrin type-A receptor 2 | Homo sapiens (Human) | SS |
P21709 | EPHA1 | Ephrin type-A receptor 1 | Homo sapiens (Human) | SS |
P54760 | EPHB4 | Ephrin type-B receptor 4 | Homo sapiens (Human) | SS |
P29376 | LTK | Leukocyte tyrosine kinase receptor | Homo sapiens (Human) | SS |
P06213 | INSR | Insulin receptor | Homo sapiens (Human) | EV |
P11362 | FGFR1 | Fibroblast growth factor receptor 1 | Homo sapiens (Human) | EV |
P21802 | FGFR2 | Fibroblast growth factor receptor 2 | Homo sapiens (Human) | EV |
P22455 | FGFR4 | Fibroblast growth factor receptor 4 | Homo sapiens (Human) | SS |
P22607 | FGFR3 | Fibroblast growth factor receptor 3 | Homo sapiens (Human) | EV |
Q04912 | MST1R | Macrophage-stimulating protein receptor | Homo sapiens (Human) | EV |
P30530 | AXL | Tyrosine-protein kinase receptor UFO | Homo sapiens (Human) | PR |
P08581 | MET | Hepatocyte growth factor receptor | Homo sapiens (Human) | EV |
P04626 | ERBB2 | Receptor tyrosine-protein kinase erbB-2 | Homo sapiens (Human) | SS |
Q15303 | ERBB4 | Receptor tyrosine-protein kinase erbB-4 | Homo sapiens (Human) | SS |
P21860 | ERBB3 | Receptor tyrosine-protein kinase erbB-3 | Homo sapiens (Human) | SS |
P00533 | EGFR | Epidermal growth factor receptor | Homo sapiens (Human) | EV |
P34925 | RYK | Tyrosine-protein kinase RYK | Homo sapiens (Human) | PR |
Q02763 | TEK | Angiopoietin-1 receptor | Homo sapiens (Human) | SS |
P35590 | TIE1 | Tyrosine-protein kinase receptor Tie-1 | Homo sapiens (Human) | PR |
P10721 | KIT | Mast/stem cell growth factor receptor Kit | Homo sapiens (Human) | EV |
P09619 | PDGFRB | Platelet-derived growth factor receptor beta | Homo sapiens (Human) | EV |
P07333 | CSF1R | Macrophage colony-stimulating factor 1 receptor | Homo sapiens (Human) | SS |
P16234 | PDGFRA | Platelet-derived growth factor receptor alpha | Homo sapiens (Human) | EV |
P36888 | FLT3 | Receptor-type tyrosine-protein kinase FLT3 | Homo sapiens (Human) | EV |
Q9WTL4 | Insrr | Insulin receptor-related protein | Mus musculus (Mouse) | SS |
Q62190 | Mst1r | Macrophage-stimulating protein receptor | Mus musculus (Mouse) | SS |
P97793 | Alk | ALK tyrosine kinase receptor | Mus musculus (Mouse) | SS |
P16056 | Met | Hepatocyte growth factor receptor | Mus musculus (Mouse) | PR |
P97523 | Met | Hepatocyte growth factor receptor | Rattus norvegicus (Rat) | PR |
Q64716 | Insrr | Insulin receptor-related protein | Rattus norvegicus (Rat) | SS |
H2KZU7 | svh-2 | Tyrosine-protein kinase receptor svh-2 | Caenorhabditis elegans | SS |
Q8I7I5 | rol-3 | Protein roller-3 | Caenorhabditis elegans | PR |
F1QVU0 | ltk | Tyrosine-protein kinase receptor | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
F8W3R9 | alk | ALK tyrosine kinase receptor | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MKNIYCLIPK | LVNFATLGCL | WISVVQCTVL | NSCLKSCVTN | LGQQLDLGTP | HNLSEPCIQG |
70 | 80 | 90 | 100 | 110 | 120 |
CHFWNSVDQK | NCALKCRESC | EVGCSSAEGA | YEEEVLENAD | LPTAPFASSI | GSHNMTLRWK |
130 | 140 | 150 | 160 | 170 | 180 |
SANFSGVKYI | IQWKYAQLLG | SWTYTKTVSR | PSYVVKPLHP | FTEYIFRVVW | IFTAQLQLYS |
190 | 200 | 210 | 220 | 230 | 240 |
PPSPSYRTHP | HGVPETAPLI | RNIESSSPDT | VEVSWDPPQF | PGGPILGYNL | RLISKNQKLD |
250 | 260 | 270 | 280 | 290 | 300 |
AGTQRTSFQF | YSTLPNTIYR | FSIAAVNEVG | EGPEAESSIT | TSSSAVQQEE | QWLFLSRKTS |
310 | 320 | 330 | 340 | 350 | 360 |
LRKRSLKHLV | DEAHCLRLDA | IYHNITGISV | DVHQQIVYFS | EGTLIWAKKA | ANMSDVSDLR |
370 | 380 | 390 | 400 | 410 | 420 |
IFYRGSGLIS | SISIDWLYQR | MYFIMDELVC | VCDLENCSNI | EEITPPSISA | PQKIVADSYN |
430 | 440 | 450 | 460 | 470 | 480 |
GYVFYLLRDG | IYRADLPVPS | GRCAEAVRIV | ESCTLKDFAI | KPQAKRIIYF | NDTAQVFMST |
490 | 500 | 510 | 520 | 530 | 540 |
FLDGSASHLI | LPRIPFADVK | SFACENNDFL | VTDGKVIFQQ | DALSFNEFIV | GCDLSHIEEF |
550 | 560 | 570 | 580 | 590 | 600 |
GFGNLVIFGS | SSQLHPLPGR | PQELSVLFGS | HQALVQWKPP | ALAIGANVIL | ISDIIELFEL |
610 | 620 | 630 | 640 | 650 | 660 |
GPSAWQNWTY | EVKVSTQDPP | EVTHIFLNIS | GTMLNVPELQ | SAMKYKVSVR | ASSPKRPGPW |
670 | 680 | 690 | 700 | 710 | 720 |
SEPSVGTTLV | PASEPPFIMA | VKEDGLWSKP | LNSFGPGEFL | SSDIGNVSDM | DWYNNSLYYS |
730 | 740 | 750 | 760 | 770 | 780 |
DTKGDVFVWL | LNGTDISENY | HLPSIAGAGA | LAFEWLGHFL | YWAGKTYVIQ | RQSVLTGHTD |
790 | 800 | 810 | 820 | 830 | 840 |
IVTHVKLLVN | DMVVDSVGGY | LYWTTLYSVE | STRLNGESSL | VLQTQPWFSG | KKVIALTLDL |
850 | 860 | 870 | 880 | 890 | 900 |
SDGLLYWLVQ | DSQCIHLYTA | VLRGQSTGDT | TITEFAAWST | SEISQNALMY | YSGRLFWING |
910 | 920 | 930 | 940 | 950 | 960 |
FRIITTQEIG | QKTSVSVLEP | ARFNQFTIIQ | TSLKPLPGNF | SFTPKVIPDS | VQESSFRIEG |
970 | 980 | 990 | 1000 | 1010 | 1020 |
NASSFQILWN | GPPAVDWGVV | FYSVEFSAHS | KFLASEQHSL | PVFTVEGLEP | YALFNLSVTP |
1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
YTYWGKGPKT | SLSLRAPETV | PSAPENPRIF | ILPSGKCCNK | NEVVVEFRWN | KPKHENGVLT |
1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
KFEIFYNISN | QSITNKTCED | WIAVNVTPSV | MSFQLEGMSP | RCFIAFQVRA | FTSKGPGPYA |
1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
DVVKSTTSEI | NPFPHLITLL | GNKIVFLDMD | QNQVVWTFSA | ERVISAVCYT | ADNEMGYYAE |
1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
GDSLFLLHLH | NRSSSELFQD | SLVFDITVIT | IDWISRHLYF | ALKESQNGMQ | VFDVDLEHKV |
1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
KYPREVKIHN | RNSTIISFSV | YPLLSRLYWT | EVSNFGYQMF | YYSIISHTLH | RILQPTATNQ |
1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
QNKRNQCSCN | VTEFELSGAM | AIDTSNLEKP | LIYFAKAQEI | WAMDLEGCQC | WRVITVPAML |
1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
AGKTLVSLTV | DGDLIYWIIT | AKDSTQIYQA | KKGNGAIVSQ | VKALRSRHIL | AYSSVMQPFP |
1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
DKAFLSLASD | TVEPTILNAT | NTSLTIRLPL | AKTNLTWYGI | TSPTPTYLVY | YAEVNDRKNS |
1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
SDLKYRILEF | QDSIALIEDL | QPFSTYMIQI | AVKNYYSDPL | EHLPPGKEIW | GKTKNGVPEA |
1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
VQLINTTVRS | DTSLIISWRE | SHKPNGPKES | VRYQLAISHL | ALIPETPLRQ | SEFPNGRLTL |
1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
LVTRLSGGNI | YVLKVLACHS | EEMWCTESHP | VTVEMFNTPE | KPYSLVPENT | SLQFNWKAPL |
1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
NVNLIRFWVE | LQKWKYNEFY | HVKTSCSQGP | AYVCNITNLQ | PYTSYNVRVV | VVYKTGENST |
1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
SLPESFKTKA | GVPNKPGIPK | LLEGSKNSIQ | WEKAEDNGCR | ITYYILEIRK | STSNNLQNQN |
1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
LRWKMTFNGS | CSSVCTWKSK | NLKGIFQFRV | VAANNLGFGE | YSGISENIIL | VGDDFWIPET |
1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
SFILTIIVGI | FLVVTIPLTF | VWHRRLKNQK | SAKEGVTVLI | NEDKELAELR | GLAAGVGLAN |
1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
ACYAIHTLPT | QEEIENLPAF | PREKLTLRLL | LGSGAFGEVY | EGTAVDILGV | GSGEIKVAVK |
1990 | 2000 | 2010 | 2020 | 2030 | 2040 |
TLKKGSTDQE | KIEFLKEAHL | MSKFNHPNIL | KQLGVCLLNE | PQYIILELME | GGDLLTYLRK |
2050 | 2060 | 2070 | 2080 | 2090 | 2100 |
ARMATFYGPL | LTLVDLVDLC | VDISKGCVYL | ERMHFIHRDL | AARNCLVSVK | DYTSPRIVKI |
2110 | 2120 | 2130 | 2140 | 2150 | 2160 |
GDFGLARDIY | KNDYYRKRGE | GLLPVRWMAP | ESLMDGIFTT | QSDVWSFGIL | IWEILTLGHQ |
2170 | 2180 | 2190 | 2200 | 2210 | 2220 |
PYPAHSNLDV | LNYVQTGGRL | EPPRNCPDDL | WNLMTQCWAQ | EPDQRPTFHR | IQDQLQLFRN |
2230 | 2240 | 2250 | 2260 | 2270 | 2280 |
FFLNSIYKSR | DEANNSGVIN | ESFEGEDGDV | ICLNSDDIMP | VALMETKNRE | GLNYMVLATE |
2290 | 2300 | 2310 | 2320 | 2330 | 2340 |
CGQGEEKSEG | PLGSQESESC | GLRKEEKEPH | ADKDFCQEKQ | VAYCPSGKPE | GLNYACLTHS |
GYGDGSD |