P29320
Gene name |
EPHA3 (ETK, ETK1, HEK, TYRO4) |
Protein name |
Ephrin type-A receptor 3 |
Names |
EPH-like kinase 4, EK4, hEK4, HEK, Human embryo kinase, Tyrosine-protein kinase TYRO4, Tyrosine-protein kinase receptor ETK1, Eph-like tyrosine kinase 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2042 |
EC number |
2.7.10.1: Protein-tyrosine kinases |
Protein Class |
|

Descriptions
(Annotation based on sequence homology with P29323)
Ephrin type-B receptor 2 is a membrane-associated protein that mediates axon guidance, cell migration and morphogenesis. The Eph receptor tyrosine kinase family is regulated by autophosphorylation within the juxtamembrane region and the kinase activation segment. The structure, supported by mutagenesis data, reveals that the juxtamembrane segment adopts a helical conformation that distorts the small lobe of the kinase domain, and blocks the activation segment from attaining an activated conformation. Phosphorylation of the conserved juxtamembrane tyrosines would relieve this autoinhibition by disturbing the association of the juxtamembrane segment with the kinase domain, while liberating phosphotyrosine sites for binding SH2 domains of target proteins.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
763-789 (Activation loop from InterPro)
Target domain |
621-882 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure

Activated structure

29 structures for P29320
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
2GSF | X-ray | 177 A | A | 577-947 | PDB |
2QO2 | X-ray | 160 A | A | 577-947 | PDB |
2QO7 | X-ray | 160 A | A | 577-947 | PDB |
2QO9 | X-ray | 155 A | A | 577-947 | PDB |
2QOB | X-ray | 165 A | A | 609-947 | PDB |
2QOC | X-ray | 125 A | A | 609-947 | PDB |
2QOD | X-ray | 115 A | A | 577-947 | PDB |
2QOF | X-ray | 120 A | A | 577-947 | PDB |
2QOI | X-ray | 125 A | A | 577-947 | PDB |
2QOK | X-ray | 120 A | A | 577-947 | PDB |
2QOL | X-ray | 107 A | A | 577-947 | PDB |
2QON | X-ray | 179 A | A | 577-947 | PDB |
2QOO | X-ray | 125 A | A | 577-947 | PDB |
2QOQ | X-ray | 160 A | A | 577-947 | PDB |
3DZQ | X-ray | 175 A | A | 609-947 | PDB |
3FXX | X-ray | 170 A | A | 577-947 | PDB |
3FY2 | X-ray | 180 A | A | 577-947 | PDB |
4G2F | X-ray | 170 A | A | 609-947 | PDB |
4GK2 | X-ray | 220 A | A | 609-947 | PDB |
4GK3 | X-ray | 190 A | A | 609-947 | PDB |
4GK4 | X-ray | 210 A | A | 609-947 | PDB |
4L0P | X-ray | 226 A | A | 29-201 | PDB |
4P4C | X-ray | 160 A | A | 609-947 | PDB |
4P5Q | X-ray | 135 A | A | 606-947 | PDB |
4P5Z | X-ray | 200 A | A | 606-947 | PDB |
4TWN | X-ray | 171 A | A | 609-947 | PDB |
4TWO | X-ray | 205 A | A | 609-947 | PDB |
6IN0 | X-ray | 150 A | A | 612-904 | PDB |
AF-P29320-F1 | Predicted | AlphaFoldDB |
792 variants for P29320
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
COSM1176710 CA353701150 rs770282917 COSM1176711 |
2 | D>N | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA2502189 rs770282917 |
2 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs775889890 CA2502190 |
3 | C>S | No |
ClinGen ExAC gnomAD |
|
CA2502192 rs764355602 |
6 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751989411 CA2502194 |
7 | I>L | No |
ClinGen ExAC |
|
TCGA novel | 7 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs750454214 CA2502197 |
8 | L>F | No |
ClinGen ExAC gnomAD |
|
rs771405440 CA2502198 |
10 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA79216396 rs369721497 |
14 | S>F | No |
ClinGen ExAC gnomAD |
|
rs780224889 CA2502199 |
14 | S>P | No |
ClinGen ExAC gnomAD |
|
rs369721497 CA2502200 |
14 | S>Y | No |
ClinGen ExAC gnomAD |
|
rs758417906 CA2502201 |
15 | V>A | No |
ClinGen ExAC gnomAD |
|
CA79216397 rs373387079 |
15 | V>F | No |
ClinGen Ensembl |
|
rs1194741028 CA353701245 |
17 | D>E | No |
ClinGen TOPMed |
|
rs1461534861 CA353701242 |
17 | D>G | No |
ClinGen gnomAD |
|
rs201110271 CA2502202 |
17 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA353701246 rs1480670631 |
18 | S>R | No |
ClinGen TOPMed |
|
CA353701255 rs1559734115 |
19 | F>L | No |
ClinGen Ensembl |
|
CA2502204 rs141456190 |
21 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA353701292 rs1433031247 |
24 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA353701295 rs1236884924 |
25 | Q>K | No |
ClinGen TOPMed |
|
CA353701302 rs1341481107 |
26 | P>A | No |
ClinGen TOPMed gnomAD |
|
CA353701315 rs1559734152 |
28 | N>D | No |
ClinGen Ensembl |
|
CA2502206 rs745339448 |
28 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353701347 rs1347546355 |
30 | V>A | No |
ClinGen gnomAD |
|
rs1157209705 CA353701349 |
31 | N>D | No |
ClinGen gnomAD |
|
rs1321323037 COSM1425618 CA353701390 COSM1425619 |
37 | T>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
VAR_036086 | 37 | T>K | a colorectal cancer sample; somatic mutation [UniProt] | No | UniProt |
rs1295767981 CA353701396 |
38 | I>V | No |
ClinGen gnomAD |
|
rs760801471 CA2502232 |
39 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs760801471 CA353701401 |
39 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA2502234 rs374211029 |
41 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA79218120 rs756018331 |
42 | L>P | No |
ClinGen Ensembl |
|
rs372273179 CA2502236 |
43 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs372273179 CA353701427 |
43 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA79218121 rs368633855 |
43 | G>S | No |
ClinGen ESP TOPMed gnomAD |
|
CA2502237 rs139262347 |
45 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM731481 CA353701448 rs1559743082 |
46 | S>C | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
CA353701469 rs1559743096 |
49 | S>L | No |
ClinGen Ensembl |
|
rs993037877 CA79218123 |
50 | H>N | No |
ClinGen TOPMed gnomAD |
|
CA353701473 rs1468754976 |
50 | H>R | No |
ClinGen TOPMed |
|
rs750238747 CA2502240 |
51 | G>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 54 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA353701773 rs1223603848 |
56 | S>N | No |
ClinGen gnomAD |
|
rs753507903 CA2502262 |
57 | G>D | No |
ClinGen ExAC gnomAD |
|
CA353701805 rs1359245420 |
58 | V>A | No |
ClinGen gnomAD |
|
rs1310714298 CA353701859 |
61 | H>R | No |
ClinGen gnomAD |
|
CA353701855 rs1487544308 |
61 | H>Y | No |
ClinGen gnomAD |
|
CA353701929 rs1354537650 |
66 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1400426073 CA353701935 |
67 | T>N | No |
ClinGen gnomAD |
|
CA353701944 rs1279990429 |
68 | Y>H | No |
ClinGen TOPMed gnomAD |
|
CA2502264 rs778392937 |
72 | N>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 73 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs752206333 CA2502265 |
75 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA79225393 rs267599943 |
75 | D>N | No |
ClinGen Ensembl |
|
CA2502266 rs565897036 |
76 | H>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs778365543 CA2502267 |
77 | S>G | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 78 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1262037812 CA353702065 |
79 | N>S | No |
ClinGen gnomAD |
|
rs1213239892 CA353702100 |
82 | L>M | No |
ClinGen TOPMed gnomAD |
|
rs1019076961 CA79225394 |
83 | R>I | No |
ClinGen TOPMed gnomAD |
|
VAR_036087 | 85 | N>S | a colorectal cancer sample; somatic mutation [UniProt] | No | UniProt |
CA353702169 rs1162117153 |
87 | V>L | No |
ClinGen gnomAD |
|
rs1244334822 CA353702194 |
88 | P>L | No |
ClinGen gnomAD |
|
rs771292552 CA2502269 |
88 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA2502270 rs142484873 |
89 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1211863735 CA353702227 |
90 | N>I | No |
ClinGen TOPMed |
|
rs539750746 CA2502271 |
92 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2502272 rs371194762 |
93 | Q>L | No |
ClinGen ESP ExAC gnomAD |
|
COSM280824 COSM280825 rs369150999 CA2502273 |
94 | K>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1165172952 CA353702292 |
95 | I>T | No |
ClinGen gnomAD |
|
rs1171325456 CA353702286 |
95 | I>V | No |
ClinGen gnomAD |
|
CA2502275 rs771868437 |
97 | V>M | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA353702358 rs1294076209 |
100 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs753700696 CA2502279 |
104 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1347519802 CA353702449 |
107 | N>H | No |
ClinGen TOPMed gnomAD |
|
rs1365430715 CA353702451 |
107 | N>S | No |
ClinGen TOPMed |
|
rs764881139 CA2502281 |
109 | I>F | No |
ClinGen ExAC gnomAD |
|
COSM320149 CA2502283 COSM320148 rs757955810 |
111 | L>F | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA2502282 rs561025059 |
111 | L>W | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 112 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2502285 rs752079301 |
113 | L>F | No |
ClinGen ExAC gnomAD |
|
rs537025827 CA2502284 |
113 | L>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2502286 rs200995645 |
115 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs202143347 CA2502290 |
124 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2502291 rs749566378 |
125 | M>L | No |
ClinGen ExAC gnomAD |
|
CA2502292 rs768759202 |
125 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 126 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs982229155 CA79225398 |
126 | E>Q | No |
ClinGen TOPMed gnomAD |
|
CA353702762 rs1168349491 |
129 | D>G | No |
ClinGen TOPMed |
|
rs201357801 CA79225399 |
129 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
TCGA novel | 131 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA353702789 rs1370363055 |
131 | H>N | No |
ClinGen gnomAD |
|
rs1250111431 CA353702796 |
131 | H>R | No |
ClinGen TOPMed |
|
CA353702812 rs1281519905 |
132 | G>A | No |
ClinGen gnomAD |
|
rs1443135220 CA353702807 |
132 | G>R | No |
ClinGen gnomAD |
|
CA2502294 rs746962589 |
134 | K>E | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 134 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1048851 rs770780950 COSM1048852 CA2502295 |
136 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs776350196 CA353702870 |
136 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776350196 CA2502296 |
136 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs373433238 CA2502297 |
137 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA79225401 rs577908847 |
138 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
CA2502299 rs775092793 |
141 | T>I | No |
ClinGen ExAC gnomAD |
|
rs1457847145 CA353702960 |
142 | K>T | No |
ClinGen gnomAD |
|
CA353703008 rs1210304482 |
146 | I>V | No |
ClinGen TOPMed |
|
CA353703041 rs1230871085 |
148 | A>G | No |
ClinGen gnomAD |
|
rs1358372150 CA353703033 |
148 | A>T | No |
ClinGen TOPMed |
|
CA353703051 rs1469427775 |
149 | D>G | No |
ClinGen gnomAD |
|
CA2502302 rs751094345 |
150 | E>K | No |
ClinGen ExAC |
|
CA353703108 rs1249441630 |
154 | Q>E | No |
ClinGen TOPMed |
|
CA2502303 rs757714246 |
155 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA79225403 rs866821420 |
156 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA353703168 rs1342457962 |
158 | G>E | No |
ClinGen TOPMed |
|
rs768163795 CA2502304 |
160 | R>C | No |
ClinGen ExAC gnomAD |
|
CA2502305 rs750779844 |
160 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353703202 rs1247330677 |
161 | I>V | No |
ClinGen gnomAD |
|
CA353703243 rs1164159108 |
164 | L>F | No |
ClinGen gnomAD |
|
TCGA novel | 170 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1393773449 CA353703316 |
170 | E>K | No |
ClinGen gnomAD |
|
CA2502306 rs141287594 |
173 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA353703382 rs1334260867 |
175 | N>D | No |
ClinGen gnomAD |
|
rs770039696 CA2502308 |
175 | N>K | No |
ClinGen ExAC gnomAD |
|
rs755222529 CA2502309 |
176 | K>E | No |
ClinGen ExAC gnomAD |
|
CA2502310 rs778986745 |
177 | K>* | No |
ClinGen ExAC gnomAD |
|
CA2502312 rs770851201 |
180 | Y>F | No |
ClinGen ExAC gnomAD |
|
rs1317973431 CA353703479 |
181 | L>V | No |
ClinGen gnomAD |
|
rs1270443958 CA353703491 COSM396051 COSM396050 |
182 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA353703488 rs1270443958 |
182 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1559602030 CA353703545 |
187 | G>D | No |
ClinGen Ensembl |
|
CA353703553 rs1187836345 |
188 | A>G | No |
ClinGen TOPMed gnomAD |
|
CA353703552 rs1187836345 |
188 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
TCGA novel | 192 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs769554825 CA2502315 |
195 | V>A | No |
ClinGen ExAC gnomAD |
|
rs1378343025 CA353703611 |
197 | V>G | No |
ClinGen TOPMed |
|
rs1187094132 CA353703606 |
197 | V>I | No |
ClinGen TOPMed gnomAD |
|
rs1042248812 CA79225405 |
200 | K>R | No |
ClinGen TOPMed |
|
CA2502316 rs775318326 |
201 | K>N | No |
ClinGen ExAC gnomAD |
|
CA353703657 rs1483221430 |
204 | F>L | No |
ClinGen TOPMed |
|
COSM94195 CA353703671 rs1276350997 |
206 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
VAR_068853 rs200567888 CA2502319 |
207 | K>N | a pancreatic ductal adenocarcinoma sample; somatic mutation [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
CA2502318 rs763655362 |
207 | K>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 210 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs761263727 CA2502320 |
210 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1633350 rs1413376820 COSM1633351 CA353703702 |
211 | M>V | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA353703722 rs1274968589 |
213 | P>L | No |
ClinGen TOPMed |
|
rs1293200426 CA353703719 |
213 | P>S | No |
ClinGen gnomAD |
|
CA2502321 rs767180087 |
215 | T>A | No |
ClinGen ExAC |
|
rs750948534 COSM74528 CA2502322 COSM1425633 |
215 | T>M | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA353703737 rs1267843219 |
216 | V>I | No |
ClinGen TOPMed gnomAD |
|
CA353703736 rs1267843219 |
216 | V>L | No |
ClinGen TOPMed gnomAD |
|
rs1338210929 CA353703741 |
217 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA353703743 rs1338210929 |
217 | P>T | No |
ClinGen TOPMed gnomAD |
|
rs770106113 CA79225406 |
218 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA353703749 rs1372738630 |
218 | M>L | No |
ClinGen TOPMed |
|
rs1576233343 CA353703751 |
218 | M>R | No |
ClinGen Ensembl |
|
COSM1693044 COSM1693043 CA353703781 rs1282065699 |
222 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs766846963 CA2502324 |
222 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2502325 rs754158548 |
224 | V>A | No |
ClinGen ExAC gnomAD |
|
CA353703788 rs1209963217 |
224 | V>L | No |
ClinGen gnomAD |
|
rs1576233383 CA353703804 |
226 | V>G | No |
ClinGen Ensembl |
|
COSM1425636 CA2502326 rs755172206 COSM1425637 |
226 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA353703812 rs1190951059 CA353703813 |
228 | G>R | No |
ClinGen gnomAD |
|
rs1475149451 CA353703819 |
229 | S>A | No |
ClinGen gnomAD |
|
VAR_042126 | 229 | S>Y | a lung large cell carcinoma sample; somatic mutation [UniProt] | No | UniProt |
TCGA novel | 231 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA79225408 rs1018715666 |
231 | V>I | No |
ClinGen TOPMed gnomAD |
|
rs748217146 CA2502328 |
232 | N>D | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 233 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2502329 rs758441001 |
233 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA353703867 rs1253791217 |
236 | E>* | No |
ClinGen TOPMed |
|
CA353703865 rs1253791217 |
236 | E>K | No |
ClinGen TOPMed |
|
COSM109237 CA2502330 rs139652107 |
237 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC |
CA2502332 rs769787086 |
238 | D>E | No |
ClinGen ExAC gnomAD |
|
rs370457091 CA2502333 |
241 | R>T | No |
ClinGen ESP ExAC gnomAD |
|
rs995930628 CA79225410 |
242 | M>L | No |
ClinGen TOPMed gnomAD |
|
CA353703942 rs1261033710 |
246 | T>I | No |
ClinGen gnomAD |
|
CA353703947 rs1203269012 |
247 | E>G | No |
ClinGen gnomAD |
|
CA353703956 rs1553665305 |
248 | G>V | No |
ClinGen Ensembl |
|
rs773846066 CA2502337 COSM138380 |
249 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA353703982 rs1229614068 |
252 | V>A | No |
ClinGen TOPMed |
|
CA353703979 rs1194420863 |
252 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA353703986 rs1396970589 |
253 | P>A | No |
ClinGen gnomAD |
|
rs761576191 COSM197999 CA2502338 |
253 | P>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA2502340 rs772927622 |
256 | K>E | No |
ClinGen ExAC gnomAD |
|
rs1291872386 CA353704007 |
256 | K>T | No |
ClinGen TOPMed |
|
TCGA novel | 263 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs138376716 CA2502341 |
265 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2502342 rs138974536 |
267 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs754184476 CA353704089 |
268 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2502343 rs754184476 |
268 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1439645986 CA353704119 |
271 | Q>R | No |
ClinGen gnomAD |
|
rs374955351 CA2502345 |
272 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs559831321 CA79236776 |
272 | A>V | No |
ClinGen Ensembl |
|
rs760135022 CA2502361 |
274 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2502362 rs765502894 |
274 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA353701514 rs201468736 |
275 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs201468736 CA2502363 |
275 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2502364 rs201468736 |
275 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs764312912 CA2502365 |
276 | G>A | No |
ClinGen ExAC gnomAD |
|
rs896512954 CA79236778 |
280 | A>V | No |
ClinGen TOPMed |
|
CA2502368 CA2502369 rs781383365 |
282 | D>E | No |
ClinGen ExAC gnomAD |
|
CA2502370 rs755010537 COSM584811 COSM584810 |
283 | G>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs200484511 CA2502371 |
284 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs747973326 CA2502372 |
285 | M>R | No |
ClinGen ExAC gnomAD |
|
rs948106621 CA79236779 |
286 | K>Q | No |
ClinGen TOPMed |
|
CA2502373 rs758077460 |
286 | K>T | No |
ClinGen ExAC gnomAD |
|
CA353701611 rs1259444587 |
289 | K>N | No |
ClinGen TOPMed |
|
rs1559653607 CA353701609 |
289 | K>R | No |
ClinGen Ensembl |
|
rs1355784567 CA353701625 |
291 | P>L | No |
ClinGen gnomAD |
|
CA353701632 rs1559653620 |
292 | P>L | No |
ClinGen Ensembl |
|
CA353701656 rs1297280508 |
296 | T>S | No |
ClinGen gnomAD |
|
rs142109561 CA2502374 |
298 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA353701689 rs1416437726 |
300 | G>A | No |
ClinGen gnomAD |
|
rs1291352437 CA353701718 |
303 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs746697550 CA2502375 |
305 | R>W | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 307 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs148593404 CA2502377 |
307 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM94196 rs1381512203 CA353701827 |
311 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
CA353701848 COSM1425655 COSM1425654 rs1486190561 |
312 | R>Q | liver large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs746351940 COSM1425652 CA2502378 COSM1425653 |
312 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA353701872 rs1187636039 |
314 | D>E | No |
ClinGen gnomAD |
|
CA353701863 rs1483175958 |
314 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA353701877 rs1420974457 |
315 | K>E | No |
ClinGen gnomAD |
|
rs1576321571 CA353701898 |
316 | D>A | No |
ClinGen Ensembl |
|
CA353701908 rs770338205 |
316 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353701918 rs1167543166 |
317 | P>H | No |
ClinGen gnomAD |
|
rs1231064330 CA353701912 |
317 | P>T | No |
ClinGen gnomAD |
|
rs763328423 CA2502381 |
319 | S>C | No |
ClinGen ExAC gnomAD |
|
rs564506073 CA2502382 |
320 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
CA353701955 rs1420203186 |
320 | M>V | No |
ClinGen TOPMed |
|
CA2502386 rs531563474 |
324 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA353702091 rs1286945505 |
325 | P>A | No |
ClinGen gnomAD |
|
CA79236827 rs868816181 |
326 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA353702113 rs1315586801 |
327 | S>T | No |
ClinGen gnomAD |
|
CA353702133 rs1273217724 |
328 | S>L | No |
ClinGen gnomAD |
|
CA353702156 COSM1048859 rs1559654048 COSM1048860 |
330 | R>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
CA2502409 rs368542690 |
336 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA353702246 rs1279441414 |
338 | E>Q | No |
ClinGen TOPMed |
|
CA79236828 rs372301564 |
342 | I>L | No |
ClinGen ESP gnomAD |
|
rs1405536132 CA353702302 |
342 | I>T | No |
ClinGen TOPMed gnomAD |
|
rs372301564 CA353702296 |
342 | I>V | No |
ClinGen ESP gnomAD |
|
rs756802617 CA2502411 |
344 | D>G | No |
ClinGen ExAC gnomAD |
|
rs374701071 CA2502412 |
345 | W>R | No |
ClinGen ESP ExAC TOPMed |
|
rs749859409 CA2502413 |
346 | S>I | No |
ClinGen ExAC gnomAD |
|
rs755616509 CA2502414 |
347 | W>L | No |
ClinGen ExAC gnomAD |
|
CA353702395 rs1330804725 |
349 | L>P | No |
ClinGen TOPMed gnomAD |
|
CA79236829 rs933501529 |
351 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1281583058 CA353702424 |
351 | T>K | No |
ClinGen gnomAD |
|
CA79236830 rs779599137 |
354 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA79236831 rs144727411 |
354 | R>Q | No |
ClinGen ESP gnomAD |
|
rs779599137 CA2502415 |
354 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2502416 rs749793758 |
355 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 356 | D>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1195814121 CA353702473 |
356 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs149937883 CA2502418 |
357 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA353702539 rs1288697097 |
361 | I>L | No |
ClinGen gnomAD |
|
rs1230921861 CA353702559 |
362 | I>M | No |
ClinGen gnomAD |
|
rs202046045 CA2502420 |
362 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs367816678 CA2502419 |
362 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs773454441 CA2502421 |
364 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1197169173 CA353702603 |
365 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA353702612 rs1188537096 |
366 | C>R | No |
ClinGen gnomAD |
|
CA2502422 rs760852634 |
367 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1420005671 CA353702624 |
367 | G>R | No |
ClinGen gnomAD |
|
CA2502423 rs771117648 |
368 | W>R | No |
ClinGen ExAC gnomAD |
|
rs1317735981 CA353702697 |
372 | Q>E | No |
ClinGen TOPMed |
|
CA2502424 rs776913752 |
374 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA79236833 rs371687854 |
374 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
rs200415022 CA2502425 |
377 | S>N | Variant assessed as Somatic; 0.0005543 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 379 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs995238704 CA79236835 |
381 | R>C | No |
ClinGen TOPMed gnomAD |
|
COSM198018 CA2502426 rs764139832 |
381 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA2502428 rs761696838 |
385 | R>G | No |
ClinGen ExAC gnomAD |
|
CA2502429 rs767254790 |
385 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1339518966 CA353702903 |
388 | G>V | No |
ClinGen gnomAD |
|
rs1400852070 CA353702910 |
389 | L>F | No |
ClinGen TOPMed |
|
CA353702921 rs1215928276 |
390 | T>I | No |
ClinGen gnomAD |
|
CA353702925 rs1270503537 |
391 | N>S | No |
ClinGen gnomAD |
|
CA353702948 rs1211409809 |
393 | T>M | No |
ClinGen gnomAD |
|
CA2502430 rs533112669 |
393 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA353702971 rs1234568158 |
395 | T>K | No |
ClinGen gnomAD |
|
rs1205132450 CA353702970 |
395 | T>P | No |
ClinGen gnomAD |
|
rs1559654273 CA353703013 |
398 | D>V | No |
ClinGen Ensembl |
|
CA353703042 rs1367928047 |
401 | A>P | No |
ClinGen TOPMed gnomAD |
|
rs1367928047 CA353703044 |
401 | A>S | No |
ClinGen TOPMed gnomAD |
|
CA2502433 rs753359922 |
401 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2502434 rs755432416 |
402 | H>D | No |
ClinGen ExAC |
|
rs1169851160 CA353703061 |
402 | H>R | No |
ClinGen gnomAD |
|
CA2502436 rs748645303 |
404 | N>Y | No |
ClinGen ExAC |
|
rs1313799818 CA353703130 |
406 | T>I | No |
ClinGen gnomAD |
|
CA353703162 rs1377674952 |
408 | E>D | No |
ClinGen gnomAD |
|
COSM296223 COSM296224 CA2502437 rs772463834 |
412 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1334127938 CA353703239 |
414 | G>V | No |
ClinGen gnomAD |
|
TCGA novel | 415 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA353703245 rs1432350325 |
415 | V>M | No |
ClinGen gnomAD |
|
rs776790513 CA2502441 |
418 | L>R | No |
ClinGen ExAC gnomAD |
|
rs1254932287 CA353703301 |
419 | S>G | No |
ClinGen TOPMed |
|
CA353703309 rs1282140504 |
419 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA353703334 rs144998277 |
421 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs144998277 CA2502443 |
421 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2502442 rs759709969 |
421 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA353703336 rs1178604557 |
422 | P>T | No |
ClinGen gnomAD |
|
CA353703345 rs1195505981 |
423 | R>G | No |
ClinGen gnomAD |
|
TCGA novel | 423 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1013433060 CA79236837 |
424 | Q>E | No |
ClinGen TOPMed |
|
CA353703376 rs1246269252 |
425 | F>V | No |
ClinGen gnomAD |
|
CA2502445 COSM1205447 rs530556931 COSM1205448 |
427 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
CA2502447 rs750191873 |
429 | S>I | No |
ClinGen ExAC gnomAD |
|
CA2502448 rs760263242 |
430 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1172488603 CA353703438 |
431 | T>P | No |
ClinGen gnomAD |
|
CA353703454 rs766046211 COSM731469 |
432 | T>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA2502449 rs766046211 |
432 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353703483 rs1317883302 |
434 | Q>* | No |
ClinGen gnomAD |
|
rs754455890 CA353703495 |
434 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs571620668 CA79236838 |
435 | A>D | No |
ClinGen TOPMed gnomAD |
|
CA2502474 rs751932716 |
436 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353661248 rs1267303962 |
439 | P>T | No |
ClinGen gnomAD |
|
rs757664499 CA2502475 |
442 | T>A | No |
ClinGen ExAC gnomAD |
|
rs112239794 CA2502476 |
442 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA353661345 rs1473800664 |
444 | K>M | No |
ClinGen TOPMed gnomAD |
|
rs1348993609 COSM1284755 CA353661349 COSM1284754 |
444 | K>N | autonomic_ganglia Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
CA353661344 rs1473800664 |
444 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA353661387 rs1180627146 |
446 | D>E | No |
ClinGen gnomAD |
|
rs925530491 CA78491616 |
447 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs780126700 CA2502479 |
447 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1457055144 CA353661430 |
448 | T>I | No |
ClinGen gnomAD |
|
CA2502480 rs372621625 |
448 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
VAR_042127 | 449 | S>F | a lung neuroendocrine carcinoma sample; somatic mutation [UniProt] | No | UniProt |
CA353661435 rs1398335242 |
449 | S>Y | No |
ClinGen gnomAD |
|
CA353661444 rs1201275406 |
450 | R>K | No |
ClinGen gnomAD |
|
rs747000701 CA2502483 |
451 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1392564713 CA353662176 |
453 | I>N | No |
ClinGen TOPMed |
|
rs1373094456 CA353662236 COSM1425682 COSM1425683 |
454 | S>F | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
CA353662579 rs1271844607 |
461 | E>D | No |
ClinGen TOPMed |
|
CA2502487 rs764806570 |
461 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1475098621 CA353662615 |
462 | H>L | No |
ClinGen gnomAD |
|
CA2502488 rs775011935 |
463 | P>R | No |
ClinGen ExAC gnomAD |
|
CA2502489 rs762400314 |
464 | N>D | No |
ClinGen ExAC gnomAD |
|
rs752539520 CA2502490 |
466 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353662723 rs1203540302 |
466 | I>N | No |
ClinGen gnomAD |
|
rs570604469 CA2502492 |
467 | I>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs570604469 CA353662775 |
467 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2502491 rs752088339 |
467 | I>V | No |
ClinGen ExAC gnomAD |
|
CA2502494 rs750832814 |
468 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2502496 rs780172142 |
469 | D>G | No |
ClinGen ExAC gnomAD |
|
CA353662844 rs1391704321 |
470 | Y>H | No |
ClinGen gnomAD |
|
rs537923825 CA2502498 |
471 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs1375857079 CA353662940 |
472 | V>A | No |
ClinGen gnomAD |
|
CA2502499 rs370552845 |
474 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA353663035 rs1301060598 |
476 | E>K | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 478 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA353663376 rs1463190446 |
479 | E>G | No |
ClinGen gnomAD |
|
CA353663389 rs1409851868 |
480 | Q>R | No |
ClinGen TOPMed |
|
rs370986773 CA2502528 |
482 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2502529 rs748888287 |
483 | S>C | No |
ClinGen ExAC gnomAD |
|
rs374626393 CA78494191 |
486 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
CA353663475 rs1259440529 |
489 | A>T | No |
ClinGen TOPMed |
|
rs771749213 CA2502533 |
490 | R>G | No |
ClinGen ExAC gnomAD |
|
CA2502534 rs773835698 |
491 | G>D | No |
ClinGen ExAC gnomAD |
|
rs766652795 CA2502536 |
492 | T>A | No |
ClinGen ExAC gnomAD |
|
CA353663492 rs766652795 |
492 | T>P | No |
ClinGen ExAC gnomAD |
|
rs1438893531 CA353663501 |
493 | N>S | No |
ClinGen gnomAD |
|
rs1438893531 CA353663500 |
493 | N>T | No |
ClinGen gnomAD |
|
TCGA novel | 495 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs777061580 CA2502537 |
495 | T>P | No |
ClinGen ExAC |
|
rs938686751 CA78494233 |
496 | I>L | No |
ClinGen TOPMed gnomAD |
|
CA2502538 rs759615049 |
497 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765462880 CA2502539 |
497 | S>N | No |
ClinGen ExAC gnomAD |
|
rs144696297 CA2502540 |
498 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2502541 rs758438939 |
499 | L>F | No |
ClinGen ExAC gnomAD |
|
CA2502542 rs764206594 |
500 | K>Q | No |
ClinGen ExAC |
|
CA2502544 rs75391524 |
502 | D>N | No |
ClinGen ExAC gnomAD |
|
rs75391524 CA353663561 |
502 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs751929427 CA78494293 |
503 | T>S | No |
ClinGen Ensembl |
|
rs867131534 CA78494309 |
504 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA353663597 rs1245874536 |
505 | Y>H | No |
ClinGen gnomAD |
|
rs1381500170 CA353663650 |
508 | Q>K | No |
ClinGen TOPMed |
|
rs1184230536 CA353663678 |
510 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA353663702 rs1472226095 |
512 | R>* | No |
ClinGen gnomAD |
|
CA2502548 rs778678869 |
513 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2502550 rs747853999 |
514 | A>T | No |
ClinGen ExAC gnomAD |
|
CA353663753 rs1559681526 |
517 | Y>C | No |
ClinGen Ensembl |
|
TCGA novel | 517 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1362369938 CA353663769 |
518 | G>E | No |
ClinGen TOPMed |
|
VAR_042128 | 518 | G>L | a lung squamous cell carcinoma sample; somatic mutation; requires 2 nucleotide substitutions [UniProt] | No | UniProt |
CA2502553 COSM1737266 COSM1737265 rs543425684 |
519 | T>M | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1310386960 CA353663793 |
520 | N>T | No |
ClinGen gnomAD |
|
rs552884651 CA2502554 |
521 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2502555 rs776808297 |
521 | S>R | No |
ClinGen ExAC gnomAD |
|
rs759973751 CA2502556 |
522 | R>C | No |
ClinGen ExAC gnomAD |
|
rs775665893 CA2502558 |
522 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM397779 CA2502557 COSM397778 rs759973751 |
522 | R>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA353663818 rs1226229275 |
523 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
TCGA novel | 523 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1288766137 CA353663834 |
524 | F>S | No |
ClinGen gnomAD |
|
CA2502559 rs150469112 |
525 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2502560 rs764155355 |
526 | F>S | No |
ClinGen ExAC gnomAD |
|
CA2502562 rs755956785 |
527 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353663917 rs1188603929 |
528 | T>S | No |
ClinGen gnomAD |
|
CA353663956 rs1161663372 |
531 | D>N | No |
ClinGen gnomAD |
|
CA353663965 rs1413432309 |
532 | S>A | No |
ClinGen TOPMed gnomAD |
|
CA353665623 rs1233786675 |
534 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1257548456 CA353665639 |
535 | I>M | No |
ClinGen gnomAD |
|
CA2502587 rs777508142 |
536 | S>C | No |
ClinGen ExAC gnomAD |
|
rs777508142 CA2502588 |
536 | S>F | No |
ClinGen ExAC gnomAD |
|
rs756765228 CA2502589 |
537 | G>A | No |
ClinGen ExAC gnomAD |
|
CA78499790 rs371787296 |
537 | G>S | No |
ClinGen ESP TOPMed |
|
CA353665678 rs1200731184 |
539 | S>G | No |
ClinGen TOPMed |
|
COSM1048873 CA78499800 rs964408959 |
539 | S>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
CA2502591 rs149643424 |
541 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
rs780337925 CA2502593 |
542 | V>A | No |
ClinGen ExAC gnomAD |
|
rs377041029 CA2502592 |
542 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2502595 rs768941729 |
543 | V>L | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 544 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs774612991 CA2502596 |
545 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774612991 CA353665772 |
545 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353665784 rs1221318412 |
546 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1172547285 CA353665800 |
547 | I>T | No |
ClinGen gnomAD |
|
CA353665816 rs1386464909 |
548 | S>L | No |
ClinGen gnomAD |
|
COSM4155081 CA2502598 rs147450955 |
549 | A>V | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA2502600 rs371462790 |
550 | A>P | No |
ClinGen ExAC |
|
rs983187598 CA78499893 |
551 | V>A | No |
ClinGen TOPMed gnomAD |
|
CA2502601 rs142865154 |
552 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA353665884 rs1387008905 |
554 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs752322107 CA78499904 |
555 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1356072262 CA353665909 |
556 | L>F | No |
ClinGen TOPMed |
|
CA2502603 rs752497107 |
557 | T>I | No |
ClinGen ExAC gnomAD |
|
rs762801053 CA2502604 |
558 | V>A | No |
ClinGen ExAC gnomAD |
|
rs374460085 CA353665970 |
560 | I>F | No |
ClinGen ESP TOPMed gnomAD |
|
CA2502606 rs751208279 |
560 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs374460085 CA78499938 |
560 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
CA2502607 rs139544432 |
561 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA353665989 rs1322202080 |
561 | Y>H | No |
ClinGen gnomAD |
|
CA353666011 rs1210690957 |
562 | V>L | No |
ClinGen gnomAD |
|
CA2502609 rs536008328 |
564 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
VAR_042129 CA2502608 rs55712516 |
564 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs756564447 CA2502610 |
566 | R>K | No |
ClinGen ExAC gnomAD |
|
rs56077781 CA2502627 |
568 | C>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
VAR_042130 rs56077781 CA2502626 |
568 | C>S | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1372209561 CA353666619 |
569 | G>V | No |
ClinGen gnomAD |
|
CA2502629 rs370678502 |
570 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1384402151 CA353666670 |
572 | S>T | No |
ClinGen TOPMed |
|
rs913193328 CA353666698 |
573 | K>I | No |
ClinGen TOPMed gnomAD |
|
rs1372684890 CA353666701 |
573 | K>N | No |
ClinGen gnomAD |
|
rs913193328 CA78500464 |
573 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA78500476 rs372943443 |
575 | G>A | No |
ClinGen ESP TOPMed |
|
CA78500484 rs745973705 |
576 | A>V | No |
ClinGen Ensembl |
|
rs1278755088 COSM1048874 CA353666803 |
578 | E>D | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs867835679 CA78500485 |
578 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA2502631 rs779282250 |
580 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748487754 CA2502632 |
580 | R>S | No |
ClinGen ExAC gnomAD |
|
CA353666892 rs1351210663 |
583 | F>S | No |
ClinGen gnomAD |
|
CA2502633 rs758610779 |
584 | G>V | No |
ClinGen ExAC gnomAD |
|
CA353666930 rs1203604011 |
585 | N>S | No |
ClinGen gnomAD |
|
CA2502635 rs778106353 |
586 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2502636 rs778106353 |
586 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA78500523 rs533770865 |
586 | G>R | No |
ClinGen Ensembl |
|
rs778106353 CA2502634 |
586 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1183034828 CA353666971 |
587 | H>P | No |
ClinGen gnomAD |
|
CA2502661 rs771851703 |
588 | L>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA2502662 rs772998374 |
589 | K>E | No |
ClinGen ExAC gnomAD |
|
rs1450215218 CA353667961 |
589 | K>I | No |
ClinGen TOPMed |
|
rs567496673 CA2502663 |
590 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
VAR_042131 CA78504003 rs56081642 |
590 | L>P | No |
ClinGen UniProt dbSNP gnomAD |
|
CA353668007 rs1463230067 |
592 | G>C | No |
ClinGen gnomAD |
|
rs534679111 CA2502664 |
592 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs776171101 CA2502665 |
593 | L>R | No |
ClinGen ExAC gnomAD |
|
rs758942025 CA2502666 |
594 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1189384773 CA353668039 |
595 | T>I | No |
ClinGen gnomAD |
|
CA353668045 rs1472882999 |
596 | Y>H | No |
ClinGen gnomAD |
|
CA2502667 rs61733120 RCV000881117 |
597 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2502669 rs763618226 |
598 | D>G | No |
ClinGen ExAC gnomAD |
|
rs753127242 COSM1048876 CA2502668 |
598 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
TCGA novel | 599 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA353668109 rs1488450493 |
601 | T>A | No |
ClinGen TOPMed |
|
CA2502671 rs751984150 |
601 | T>I | No |
ClinGen ExAC gnomAD |
|
rs1301680905 CA353668157 |
605 | P>L | No |
ClinGen gnomAD |
|
COSM584782 CA353668154 rs1439127416 |
605 | P>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
rs577668720 CA2502674 |
606 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA353668168 rs1289635005 |
606 | T>I | No |
ClinGen gnomAD |
|
CA353668181 rs1339615261 |
607 | Q>H | No |
ClinGen TOPMed |
|
rs1326510338 CA353668177 |
607 | Q>P | No |
ClinGen gnomAD |
|
CA78504127 rs776181530 |
608 | A>G | No |
ClinGen Ensembl |
|
CA78504126 rs17855794 |
608 | A>T | No |
ClinGen Ensembl |
|
CA2502675 rs756134991 |
609 | V>I | No |
ClinGen ExAC gnomAD |
|
rs1323282781 CA353668240 |
613 | A>T | No |
ClinGen gnomAD |
|
rs772013090 CA2502678 |
614 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA78504145 rs866025221 |
615 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs374235660 CA2502680 |
617 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs374235660 CA2502681 COSM584781 |
617 | D>Y | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 618 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs759287229 CA2502683 |
619 | T>N | No |
ClinGen ExAC gnomAD |
|
rs1414714315 VAR_036088 CA353668334 COSM33004 |
621 | I>L | large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt dbSNP gnomAD |
rs545022458 CA2502685 |
622 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA353668373 rs1162005172 |
624 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1468797697 CA353668372 |
624 | D>G | No |
ClinGen gnomAD |
|
CA353668381 rs1365375680 |
625 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1430916797 CA353668396 |
626 | V>A | No |
ClinGen gnomAD |
|
CA353668409 rs1310443133 |
628 | G>E | No |
ClinGen gnomAD |
|
CA2502709 rs767708554 |
631 | E>A | No |
ClinGen ExAC |
|
CA2502710 rs773640458 |
631 | E>D | No |
ClinGen ExAC gnomAD |
|
rs867931903 CA78507376 |
631 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA353669169 rs1242840680 COSM98892 |
636 | C>F | stomach [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA78507384 rs375432691 |
637 | S>G | No |
ClinGen ESP gnomAD |
|
rs375432691 CA353669174 |
637 | S>R | No |
ClinGen ESP gnomAD |
|
CA2502713 rs754102338 |
639 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA2502714 rs570346631 COSM1633353 |
639 | R>H | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
RCV001293546 CA353669192 rs754102338 |
639 | R>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs549882703 CA78507386 |
640 | L>V | No |
ClinGen 1000Genomes |
|
CA353669232 rs1553692173 |
642 | L>F | No |
ClinGen Ensembl |
|
rs146728702 CA2502715 |
643 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs146728702 CA2502716 |
643 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA353669254 rs1576368494 |
644 | S>L | No |
ClinGen Ensembl |
|
rs1335496435 CA353669259 |
645 | K>T | No |
ClinGen gnomAD |
|
rs201062946 CA78507389 |
647 | E>D | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
rs1467832547 | 647 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1325678893 CA353669342 |
649 | S>* | No |
ClinGen gnomAD |
|
COSM198046 rs1559689115 CA353669361 |
651 | A>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
rs1276606795 COSM1048878 CA353669380 |
651 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1262606547 CA353669398 |
652 | I>M | No |
ClinGen gnomAD |
|
CA2502721 rs779822883 |
652 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1465477687 COSM1538626 CA353669411 |
653 | K>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA2502722 rs748999069 |
657 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748999069 CA78507447 |
657 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
VAR_065831 | 660 | T>K | a lung carcinoma sample; somatic mutation [UniProt] | No | UniProt |
TCGA novel | 662 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1446838360 CA545016768 |
664 | R>N | No |
ClinGen gnomAD |
|
rs1248892878 CA353669664 |
665 | R>I | No |
ClinGen gnomAD |
|
TCGA novel | 666 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs774002419 CA2502724 |
667 | F>S | No |
ClinGen ExAC gnomAD |
|
rs748606864 CA2502725 |
668 | L>P | No |
ClinGen ExAC gnomAD |
|
rs772653743 CA2502726 |
672 | S>G | No |
ClinGen ExAC gnomAD |
|
CA353669800 rs1156495695 |
672 | S>R | No |
ClinGen gnomAD |
|
rs1378861144 CA353669850 |
675 | G>R | No |
ClinGen gnomAD |
|
CA2502727 rs773406696 |
678 | D>N | No |
ClinGen ExAC gnomAD |
|
CA2502728 rs202059523 |
679 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1343504201 CA353669966 |
681 | N>S | No |
ClinGen gnomAD |
|
rs1453560937 CA353670043 |
684 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs372257039 COSM122864 CA2502730 |
684 | R>Q | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs200071736 CA2502731 |
685 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353670118 rs1489618254 |
688 | V>I | No |
ClinGen TOPMed |
|
CA2502733 rs139451236 |
689 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
CA353670177 rs1350231020 |
691 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA353656152 rs1460422282 |
692 | S>I | No |
ClinGen TOPMed gnomAD |
|
CA353656148 rs1460422282 |
692 | S>N | No |
ClinGen TOPMed gnomAD |
|
rs760534439 CA2502759 |
695 | V>L | No |
ClinGen ExAC gnomAD |
|
CA353656202 rs1225397244 |
696 | M>T | No |
ClinGen gnomAD |
|
TCGA novel | 697 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 698 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs766217704 CA2502760 |
702 | M>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA353656281 rs1251195512 |
702 | M>T | No |
ClinGen gnomAD |
|
TCGA novel | 703 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA353656301 rs1317503899 |
703 | E>Q | No |
ClinGen TOPMed gnomAD |
|
rs1381031176 CA353656313 |
704 | N>D | No |
ClinGen gnomAD |
|
rs753707496 CA2502761 |
704 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754635213 CA2502762 |
705 | G>A | No |
ClinGen ExAC gnomAD |
|
CA2502763 rs754635213 |
705 | G>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 706 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs754774164 CA78480983 |
706 | S>F | No |
ClinGen Ensembl |
|
rs1390521043 CA353656364 |
708 | D>G | No |
ClinGen TOPMed |
|
rs777211567 CA2502766 |
712 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs575730567 CA2502767 |
712 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs777211567 CA353656413 |
712 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs757725021 CA2502786 |
713 | K>E | No |
ClinGen ExAC gnomAD |
|
CA2502787 rs199630398 |
713 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1368854829 CA353656587 |
714 | H>R | No |
ClinGen gnomAD |
|
rs1280769530 CA353656608 |
715 | D>G | No |
ClinGen gnomAD |
|
CA2502789 rs568185407 |
720 | V>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2502788 rs200791821 |
720 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed |
|
rs200791821 CA353656684 |
720 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed |
|
CA2502790 rs375846678 |
723 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
rs1285991622 CA353656745 |
724 | V>A | No |
ClinGen gnomAD |
|
CA2502791 rs749469241 |
725 | G>A | No |
ClinGen ExAC gnomAD |
|
rs749469241 CA353656754 |
725 | G>E | No |
ClinGen ExAC gnomAD |
|
CA2502792 rs768782109 |
726 | M>I | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 726 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA353656769 rs1161653294 |
726 | M>V | No |
ClinGen gnomAD |
|
CA2502793 rs774448099 |
728 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs748206093 CA2502794 |
728 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA353656830 rs1197239588 |
731 | A>S | No |
ClinGen gnomAD |
|
CA2502795 rs772325232 |
731 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1559693939 CA353656855 |
733 | G>C | No |
ClinGen Ensembl |
|
TCGA novel | 733 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA78482271 rs773348056 |
739 | D>E | No |
ClinGen Ensembl |
|
rs762621864 CA2502800 |
740 | M>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA353657025 rs762621864 |
740 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763688148 CA2502801 |
741 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353657041 rs763688148 |
741 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA78482289 rs925330811 |
742 | Y>F | No |
ClinGen TOPMed gnomAD |
|
rs369276620 CA2502802 |
745 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2502803 rs756739935 |
745 | R>Q | Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs149696182 CA2502804 |
746 | D>A | No |
ClinGen ESP ExAC TOPMed |
|
CA353657140 rs1288096834 |
746 | D>E | No |
ClinGen TOPMed |
|
rs1383248514 CA353657172 COSM1205449 |
748 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
CA2502807 rs780417089 COSM198048 |
750 | R>Q | large_intestine endometrium Variant assessed as Somatic; 4.622e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs749646074 CA2502808 |
751 | N>D | No |
ClinGen ExAC gnomAD |
|
rs755409303 CA2502809 |
754 | I>N | No |
ClinGen ExAC gnomAD |
|
CA353657402 rs1483346637 |
757 | N>D | No |
ClinGen TOPMed gnomAD |
|
CA353657422 rs1316383286 |
758 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
COSM731462 rs146856660 CA353657440 CA2502811 |
759 | V>L | Variant assessed as Somatic; 0.0 impact. lung [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA2502810 rs146856660 |
759 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 763 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1161010949 CA353657543 |
764 | D>G | No |
ClinGen TOPMed |
|
VAR_042132 | 766 | G>E | a lung adenocarcinoma sample; somatic mutation [UniProt] | No | UniProt |
rs1366099808 COSM1567106 CA353657594 |
766 | G>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA353657629 rs1386233725 |
768 | S>A | No |
ClinGen gnomAD |
|
CA353657631 rs1446890859 |
768 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA353657627 rs1386233725 |
768 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
TCGA novel | 771 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA353657696 rs1411035734 |
772 | E>Q | No |
ClinGen TOPMed gnomAD |
|
CA2502815 rs769645193 |
773 | D>H | No |
ClinGen ExAC gnomAD |
|
CA2502816 rs775319034 |
775 | P>T | No |
ClinGen ExAC |
|
rs34437982 CA353657785 |
777 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
VAR_042133 CA2502817 RCV000910618 rs34437982 |
777 | A>G | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2502818 rs34437982 |
777 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 778 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2502819 rs773980261 |
779 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1290414327 CA353657815 |
780 | T>I | No |
ClinGen TOPMed |
|
rs866959883 CA78495038 |
784 | G>E | No |
ClinGen Ensembl |
|
CA353660579 rs1195951459 |
786 | I>F | No |
ClinGen gnomAD |
|
CA353660601 rs1240798724 |
788 | I>V | No |
ClinGen gnomAD |
|
rs1484689450 CA353660612 |
789 | R>K | No |
ClinGen TOPMed gnomAD |
|
CA2502834 rs749306993 |
792 | S>P | No |
ClinGen ExAC gnomAD |
|
CA353660707 rs1263058019 |
797 | A>V | No |
ClinGen TOPMed |
|
CA353660726 rs1203973847 |
799 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs1203973847 CA353660725 |
799 | R>G | No |
ClinGen TOPMed gnomAD |
|
rs1176464192 CA353660731 |
799 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA2502837 rs73139269 |
801 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2502836 rs73139269 |
801 | F>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs369423490 CA78495067 |
802 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs369423490 CA2502838 |
802 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
COSM731460 CA2502840 rs760079016 |
803 | S>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
TCGA novel | 803 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs765969815 CA2502841 |
805 | S>N | No |
ClinGen ExAC gnomAD |
|
VAR_036089 | 806 | D>N | a colorectal cancer sample; somatic mutation [UniProt] | No | UniProt |
rs760090119 CA2502843 |
806 | D>V | No |
ClinGen ExAC gnomAD |
|
rs1283969718 CA353660857 |
810 | Y>H | No |
ClinGen gnomAD |
|
CA353660944 rs753130827 |
817 | V>L | No |
ClinGen ExAC gnomAD |
|
rs753130827 CA2502845 |
817 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1351681711 CA353660971 |
818 | M>I | No |
ClinGen gnomAD |
|
rs1438673642 CA353660966 |
818 | M>T | No |
ClinGen TOPMed |
|
CA353661012 rs1207208621 |
820 | Y>C | No |
ClinGen gnomAD |
|
rs150609332 CA78495167 |
820 | Y>H | No |
ClinGen ESP |
|
rs758657242 CA2502846 |
821 | G>R | No |
ClinGen ExAC gnomAD |
|
rs370863541 CA2502847 |
822 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs757274748 CA2502849 |
824 | P>S | No |
ClinGen ExAC |
|
CA78495182 rs374248537 |
827 | E>D | No |
ClinGen ESP |
|
CA2502851 rs749114470 |
831 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA353661250 rs1198065404 |
831 | Q>R | No |
ClinGen gnomAD |
|
rs756225530 CA2502873 |
836 | A>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 836 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1293054659 CA353661496 |
837 | V>I | No |
ClinGen gnomAD |
|
CA353661539 rs1397249221 |
839 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs556754042 CA353661565 |
840 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs556754042 CA2502875 |
840 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs758183213 CA2502876 |
842 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs572288873 CA2502877 |
845 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs572288873 CA353661667 |
845 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353661664 rs572288873 |
845 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2502878 rs142030914 |
846 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA353661684 rs1315283374 |
846 | P>R | No |
ClinGen gnomAD |
|
CA2502880 rs142030914 |
846 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2502879 rs142030914 |
846 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 847 | M>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs745355919 CA2502881 |
847 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353661690 rs1315561019 |
847 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1317589623 | 847 | M>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 849 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1461478295 CA353661794 |
850 | P>L | No |
ClinGen gnomAD |
|
rs535947136 CA78495945 |
851 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
rs763624373 CA2502884 |
852 | A>D | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 853 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1423203141 CA353661861 |
854 | Y>H | No |
ClinGen gnomAD |
|
rs767812508 CA2502888 |
857 | M>I | No |
ClinGen ExAC gnomAD |
|
rs761893191 CA353661927 CA2502887 |
857 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1389159811 CA353661965 |
858 | L>Q | No |
ClinGen TOPMed |
|
CA353661987 rs1399907898 |
859 | D>G | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 865 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA353662255 rs1380975088 |
868 | R>S | No |
ClinGen gnomAD |
|
rs1424411876 CA353662260 |
869 | P>S | No |
ClinGen TOPMed |
|
CA353662318 rs1296838201 |
870 | K>R | No |
ClinGen gnomAD |
|
CA353662433 rs1309775529 |
873 | Q>H | No |
ClinGen gnomAD |
|
rs1242408900 CA353662453 |
874 | I>T | No |
ClinGen gnomAD |
|
rs1256842246 CA353662478 |
876 | S>R | No |
ClinGen gnomAD |
|
CA353662506 rs1323859567 |
878 | L>M | No |
ClinGen gnomAD |
|
rs766511234 CA2502891 COSM389456 |
881 | L>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1258333739 CA353662661 |
882 | I>V | No |
ClinGen TOPMed |
|
CA2502892 rs752560194 |
883 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM272641 rs758342526 CA2502893 |
883 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs752560194 CA78496029 |
883 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1210916543 CA353662747 |
884 | N>K | No |
ClinGen TOPMed |
|
CA353662764 rs1426641543 |
885 | P>A | No |
ClinGen TOPMed gnomAD |
|
CA353662763 rs1426641543 |
885 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA353662760 rs1426641543 |
885 | P>T | No |
ClinGen TOPMed gnomAD |
|
rs373736475 CA2502897 |
886 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs373736475 CA353662778 |
886 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs745567462 CA2502898 |
887 | S>I | No |
ClinGen ExAC gnomAD |
|
rs559771730 CA2502900 |
888 | L>V | No |
ClinGen 1000Genomes ExAC |
|
CA2502901 rs749757419 |
890 | I>V | No |
ClinGen ExAC gnomAD |
|
rs367573076 CA2502902 |
891 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1576384940 CA353662963 |
892 | T>P | No |
ClinGen Ensembl |
|
rs1434347368 CA353663001 |
894 | A>T | No |
ClinGen TOPMed |
|
CA2502903 rs774540195 |
894 | A>V | No |
ClinGen ExAC gnomAD |
|
rs141716319 CA78496168 |
895 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1029253151 CA78496153 |
895 | A>T | No |
ClinGen TOPMed |
|
rs141716319 CA2502904 |
895 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs773476878 CA2502906 |
896 | A>P | No |
ClinGen ExAC gnomAD |
|
CA78496201 rs773476878 |
896 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA2502907 rs760890688 |
896 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1427078839 CA353666604 |
900 | N>D | No |
ClinGen gnomAD |
|
rs1321050276 CA353666629 |
901 | L>I | No |
ClinGen gnomAD |
|
CA2502929 rs771171216 |
902 | L>F | No |
ClinGen ExAC gnomAD |
|
CA353666693 rs776875895 |
905 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA2502930 rs776875895 |
905 | Q>K | No |
ClinGen ExAC gnomAD |
|
CA2502931 rs759593006 |
905 | Q>P | No |
ClinGen ExAC gnomAD |
|
CA2502932 rs759593006 |
905 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs73846185 CA2502934 |
907 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2502935 rs374961385 |
909 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA353666771 rs374961385 |
909 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs750266508 CA2502936 |
911 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs531837299 CA2502938 COSM1425706 |
912 | T>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
TCGA novel | 912 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs531837299 CA78509005 |
912 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA78509019 rs904397974 |
913 | F>C | No |
ClinGen TOPMed |
|
CA2502939 rs549868478 |
914 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
VAR_027919 rs17801309 CA2502940 |
914 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs17801309 CA78509085 |
914 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs17801309 CA2502941 |
914 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2502942 rs748629890 COSM380994 |
915 | T>A | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1447002695 CA353666900 |
915 | T>R | No |
ClinGen gnomAD |
|
COSM402322 rs758848156 CA2502943 |
916 | T>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1312335539 CA353666932 |
917 | G>D | No |
ClinGen TOPMed gnomAD |
|
rs1312335539 CA353666940 |
917 | G>V | No |
ClinGen TOPMed gnomAD |
|
rs1412450341 CA353666959 |
918 | D>V | No |
ClinGen gnomAD |
|
rs998163895 CA78509098 |
919 | W>C | No |
ClinGen TOPMed |
|
rs778067909 CA2502944 |
919 | W>L | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 919 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1328672204 CA353667028 |
922 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1410875132 CA353667031 |
922 | G>D | No |
ClinGen TOPMed |
|
rs150555764 CA2502946 |
924 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
VAR_042134 rs35124509 CA2502945 CA353667067 |
924 | W>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2502947 rs776824087 |
926 | A>S | No |
ClinGen ExAC gnomAD |
|
CA78509162 rs767429462 |
928 | C>F | No |
ClinGen Ensembl |
|
CA353667111 rs1231154967 |
928 | C>S | No |
ClinGen gnomAD |
|
CA2502948 rs746145854 |
932 | F>L | No |
ClinGen ExAC gnomAD |
|
rs372594677 CA2502949 |
933 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
VAR_065832 rs372594677 CA2502950 |
933 | T>M | Variant assessed as Somatic; 0.0 impact. a lung carcinoma sample; somatic mutation [NCI-TCGA, UniProt] | No |
ClinGen UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
rs767387399 CA2502952 COSM1693052 |
934 | G>S | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA2502954 rs760525872 |
935 | V>A | No |
ClinGen ExAC gnomAD |
|
rs1275174664 CA353667205 |
935 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs961598471 CA78509191 |
936 | E>G | No |
ClinGen TOPMed |
|
CA78509189 rs369167718 |
936 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
CA2502957 rs754599782 |
938 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1237470958 CA353667252 |
939 | S>Y | No |
ClinGen gnomAD |
|
rs764752292 CA2502958 |
943 | I>V | No |
ClinGen ExAC gnomAD |
|
CA2502959 rs752176493 |
946 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2502960 rs752176493 |
946 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2502962 rs747575749 |
947 | S>A | No |
ClinGen ExAC gnomAD |
|
CA2502963 rs192800580 |
947 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1553697265 CA353667396 |
949 | D>Y | No |
ClinGen Ensembl |
|
rs1471077698 CA353668772 |
950 | D>E | No |
ClinGen gnomAD |
|
TCGA novel | 950 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1156599993 CA353668800 |
952 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA353668805 rs1379670186 |
952 | K>I | No |
ClinGen gnomAD |
|
rs1379670186 CA353668807 |
952 | K>R | No |
ClinGen gnomAD |
|
CA2502997 rs776665976 |
954 | V>F | No |
ClinGen ExAC gnomAD |
|
CA2502999 rs769685099 |
954 | V>G | No |
ClinGen ExAC gnomAD |
|
CA2502998 rs776665976 |
954 | V>I | No |
ClinGen ExAC gnomAD |
|
CA353668849 rs1464031640 |
955 | G>V | No |
ClinGen TOPMed |
|
CA78513465 rs1038500327 |
956 | V>I | No |
ClinGen TOPMed |
|
rs762601076 CA353668872 |
958 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762601076 COSM1318640 CA2503001 |
958 | V>M | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA353668883 rs1336569315 |
959 | V>F | No |
ClinGen gnomAD |
|
rs763540505 CA2503003 |
962 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA2503006 rs762268874 |
968 | S>N | No |
ClinGen ExAC gnomAD |
|
CA2503007 rs767981365 |
969 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750990530 CA2503008 |
970 | K>N | No |
ClinGen ExAC gnomAD |
|
rs756422951 CA2503009 |
971 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1250867520 CA353669026 |
972 | L>V | No |
ClinGen gnomAD |
|
rs780470195 CA2503010 |
974 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA353669058 rs1237297238 |
975 | Q>* | No |
ClinGen TOPMed gnomAD |
|
CA353669059 rs1237297238 |
975 | Q>K | No |
ClinGen TOPMed gnomAD |
|
rs755942381 CA2503012 |
975 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779095614 CA2503013 |
979 | G>S | No |
ClinGen ExAC gnomAD |
|
CA2503014 rs748204014 |
980 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA353669097 rs1456511809 |
980 | P>L | No |
ClinGen gnomAD |
|
CA353669108 rs1449229684 |
982 | P>H | No |
ClinGen gnomAD |
|
CA2503015 rs147992008 |
982 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1453994370 CA353669113 |
983 | V>G | No |
ClinGen gnomAD |
|
CA353669109 rs536144760 |
983 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
COSM198058 rs536144760 CA2503018 |
983 | V>M | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
1 associated diseases with P29320
[MIM: 114500]: Colorectal cancer (CRC)
A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269|PubMed:12738854}. Note=The gene represented in this entry may be involved in disease pathogenesis.
Without disease ID
- A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269|PubMed:12738854}. Note=The gene represented in this entry may be involved in disease pathogenesis.
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 |
10 GO annotations of cellular component
Name | Definition |
---|---|
actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
nuclear membrane | Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
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. |
5 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
ephrin receptor activity | Combining with an ephrin receptor ligand to initiate a change in cell activity. |
GPI-linked ephrin receptor activity | Combining with a GPI-anchored ephrin to initiate a change in cell activity. |
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: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate. |
transmembrane-ephrin receptor activity | Combining with a transmembrane ephrin to initiate a change in cell activity. |
18 GO annotations of biological process
Name | Definition |
---|---|
axon guidance | The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. |
cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. |
cellular response to retinoic acid | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a retinoic acid stimulus. |
ephrin receptor signaling pathway | The series of molecular signals initiated by ephrin binding to its receptor, and ending with the regulation of a downstream cellular process, e.g. transcription. |
fasciculation of motor neuron axon | The collection of motor neuron axons into a bundle of rods, known as a fascicle. |
fasciculation of sensory neuron axon | The collection of sensory neuron axons into a bundle of rods, known as a fascicle. |
negative regulation of endocytosis | Any process that stops, prevents, or reduces the frequency, rate or extent of endocytosis. |
peptidyl-tyrosine phosphorylation | The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine. |
positive regulation of kinase activity | Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. |
positive regulation of neuron projection development | Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
positive regulation of protein localization to plasma membrane | Any process that activates or increases the frequency, rate or extent of protein localization to plasma membrane. |
regulation of actin cytoskeleton organization | Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
regulation of epithelial to mesenchymal transition | Any process that modulates the rate, frequency, or extent of epithelial to mesenchymal transition. Epithelial to mesenchymal transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell. |
regulation of focal adhesion assembly | Any process that modulates the frequency, rate or extent of focal adhesion formation, the establishment and maturation of focal adhesions. |
regulation of GTPase activity | Any process that modulates the rate of GTP hydrolysis by a GTPase. |
regulation of microtubule cytoskeleton organization | Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. |
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. |
49 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
P28693 | EPHB2 | Ephrin type-B receptor 2 | Gallus gallus (Chicken) | PR |
Q07496 | EPHA4 | Ephrin type-A receptor 4 | Gallus gallus (Chicken) | SS |
Q07494 | EPHB1 | Ephrin type-B receptor 1 | Gallus gallus (Chicken) | SS |
Q07497 | EPHB5 | Ephrin type-B receptor 5 | Gallus gallus (Chicken) | PR |
O42422 | EPHA7 | Ephrin type-A receptor 7 | Gallus gallus (Chicken) | SS |
P54755 | EPHA5 | Ephrin type-A receptor 5 | Gallus gallus (Chicken) | SS |
Q07498 | EPHB3 | Ephrin type-B receptor 3 | Gallus gallus (Chicken) | SS |
P29318 | EPHA3 | Ephrin type-A receptor 3 | Gallus gallus (Chicken) | SS |
P0C0K6 | EPHB6 | Ephrin type-B receptor 6 | Pan troglodytes (Chimpanzee) | SS |
P21709 | EPHA1 | Ephrin type-A receptor 1 | Homo sapiens (Human) | SS |
P54760 | EPHB4 | Ephrin type-B receptor 4 | Homo sapiens (Human) | SS |
P29317 | EPHA2 | Ephrin type-A receptor 2 | Homo sapiens (Human) | SS |
Q15375 | EPHA7 | Ephrin type-A receptor 7 | Homo sapiens (Human) | SS |
P54756 | EPHA5 | Ephrin type-A receptor 5 | Homo sapiens (Human) | SS |
Q9UF33 | EPHA6 | Ephrin type-A receptor 6 | Homo sapiens (Human) | SS |
P54762 | EPHB1 | Ephrin type-B receptor 1 | Homo sapiens (Human) | SS |
P29322 | EPHA8 | Ephrin type-A receptor 8 | Homo sapiens (Human) | SS |
P54764 | EPHA4 | Ephrin type-A receptor 4 | Homo sapiens (Human) | SS |
P54753 | EPHB3 | Ephrin type-B receptor 3 | Homo sapiens (Human) | SS |
Q5JZY3 | EPHA10 | Ephrin type-A receptor 10 | Homo sapiens (Human) | SS |
O15197 | EPHB6 | Ephrin type-B receptor 6 | Homo sapiens (Human) | SS |
P29323 | EPHB2 | Ephrin type-B receptor 2 | Homo sapiens (Human) | EV |
P54754 | Ephb3 | Ephrin type-B receptor 3 | Mus musculus (Mouse) | SS |
Q03145 | Epha2 | Ephrin type-A receptor 2 | Mus musculus (Mouse) | PR |
Q03137 | Epha4 | Ephrin type-A receptor 4 | Mus musculus (Mouse) | SS |
Q61772 | Epha7 | Ephrin type-A receptor 7 | Mus musculus (Mouse) | SS |
O09127 | Epha8 | Ephrin type-A receptor 8 | Mus musculus (Mouse) | SS |
Q8CBF3 | Ephb1 | Ephrin type-B receptor 1 | Mus musculus (Mouse) | SS |
Q8BYG9 | Epha10 | Ephrin type-A receptor 10 | Mus musculus (Mouse) | SS |
Q60629 | Epha5 | Ephrin type-A receptor 5 | Mus musculus (Mouse) | SS |
Q62413 | Epha6 | Ephrin type-A receptor 6 | Mus musculus (Mouse) | SS |
Q60750 | Epha1 | Ephrin type-A receptor 1 | Mus musculus (Mouse) | SS |
P54763 | Ephb2 | Ephrin type-B receptor 2 | Mus musculus (Mouse) | SS |
P54761 | Ephb4 | Ephrin type-B receptor 4 | Mus musculus (Mouse) | PR |
O08644 | Ephb6 | Ephrin type-B receptor 6 | Mus musculus (Mouse) | PR |
P29319 | Epha3 | Ephrin type-A receptor 3 | Mus musculus (Mouse) | SS |
P54757 | Epha5 | Ephrin type-A receptor 5 | Rattus norvegicus (Rat) | SS |
P54759 | Epha7 | Ephrin type-A receptor 7 | Rattus norvegicus (Rat) | SS |
P09759 | Ephb1 | Ephrin type-B receptor 1 | Rattus norvegicus (Rat) | SS |
P0C0K7 | Ephb6 | Ephrin type-B receptor 6 | Rattus norvegicus (Rat) | SS |
O08680 | Epha3 | Ephrin type-A receptor 3 | Rattus norvegicus (Rat) | SS |
O61460 | vab-1 | Ephrin receptor 1 | Caenorhabditis elegans | SS |
Q8RWZ5 | SD25 | G-type lectin S-receptor-like serine/threonine-protein kinase SD2-5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q94AG2 | SERK1 | Somatic embryogenesis receptor kinase 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q3E991 | PRK6 | Pollen receptor-like kinase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9FXF2 | RKF1 | Probable LRR receptor-like serine/threonine-protein kinase RFK1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
O13147 | ephb3 | Ephrin type-B receptor 3 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
O73878 | ephb4b | Ephrin type-B receptor 4b | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
O13146 | epha3 | Ephrin type-A receptor 3 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MDCQLSILLL | LSCSVLDSFG | ELIPQPSNEV | NLLDSKTIQG | ELGWISYPSH | GWEEISGVDE |
70 | 80 | 90 | 100 | 110 | 120 |
HYTPIRTYQV | CNVMDHSQNN | WLRTNWVPRN | SAQKIYVELK | FTLRDCNSIP | LVLGTCKETF |
130 | 140 | 150 | 160 | 170 | 180 |
NLYYMESDDD | HGVKFREHQF | TKIDTIAADE | SFTQMDLGDR | ILKLNTEIRE | VGPVNKKGFY |
190 | 200 | 210 | 220 | 230 | 240 |
LAFQDVGACV | ALVSVRVYFK | KCPFTVKNLA | MFPDTVPMDS | QSLVEVRGSC | VNNSKEEDPP |
250 | 260 | 270 | 280 | 290 | 300 |
RMYCSTEGEW | LVPIGKCSCN | AGYEERGFMC | QACRPGFYKA | LDGNMKCAKC | PPHSSTQEDG |
310 | 320 | 330 | 340 | 350 | 360 |
SMNCRCENNY | FRADKDPPSM | ACTRPPSSPR | NVISNINETS | VILDWSWPLD | TGGRKDVTFN |
370 | 380 | 390 | 400 | 410 | 420 |
IICKKCGWNI | KQCEPCSPNV | RFLPRQFGLT | NTTVTVTDLL | AHTNYTFEID | AVNGVSELSS |
430 | 440 | 450 | 460 | 470 | 480 |
PPRQFAAVSI | TTNQAAPSPV | LTIKKDRTSR | NSISLSWQEP | EHPNGIILDY | EVKYYEKQEQ |
490 | 500 | 510 | 520 | 530 | 540 |
ETSYTILRAR | GTNVTISSLK | PDTIYVFQIR | ARTAAGYGTN | SRKFEFETSP | DSFSISGESS |
550 | 560 | 570 | 580 | 590 | 600 |
QVVMIAISAA | VAIILLTVVI | YVLIGRFCGY | KSKHGADEKR | LHFGNGHLKL | PGLRTYVDPH |
610 | 620 | 630 | 640 | 650 | 660 |
TYEDPTQAVH | EFAKELDATN | ISIDKVVGAG | EFGEVCSGRL | KLPSKKEISV | AIKTLKVGYT |
670 | 680 | 690 | 700 | 710 | 720 |
EKQRRDFLGE | ASIMGQFDHP | NIIRLEGVVT | KSKPVMIVTE | YMENGSLDSF | LRKHDAQFTV |
730 | 740 | 750 | 760 | 770 | 780 |
IQLVGMLRGI | ASGMKYLSDM | GYVHRDLAAR | NILINSNLVC | KVSDFGLSRV | LEDDPEAAYT |
790 | 800 | 810 | 820 | 830 | 840 |
TRGGKIPIRW | TSPEAIAYRK | FTSASDVWSY | GIVLWEVMSY | GERPYWEMSN | QDVIKAVDEG |
850 | 860 | 870 | 880 | 890 | 900 |
YRLPPPMDCP | AALYQLMLDC | WQKDRNNRPK | FEQIVSILDK | LIRNPGSLKI | ITSAAARPSN |
910 | 920 | 930 | 940 | 950 | 960 |
LLLDQSNVDI | TTFRTTGDWL | NGVWTAHCKE | IFTGVEYSSC | DTIAKISTDD | MKKVGVTVVG |
970 | 980 | ||||
PQKKIISSIK | ALETQSKNGP | VPV |