P11388
PR
Gene name |
TOP2A (TOP2) |
Protein name |
DNA topoisomerase 2-alpha |
Names |
DNA topoisomerase II, alpha isozyme |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7153 |
EC number |
5.6.2.2: Enzymes altering nucleic acid conformation |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
11 structures for P11388
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1ZXM | X-ray | 187 A | A/B | 29-428 | PDB |
| 1ZXN | X-ray | 251 A | A/B/C/D | 29-428 | PDB |
| 4FM9 | X-ray | 290 A | A | 431-1193 | PDB |
| 4R1F | X-ray | 251 A | A/B/C/D | 29-428 | PDB |
| 5GWK | X-ray | 315 A | A/B | 429-1188 | PDB |
| 5NNE | X-ray | 115 A | C | 1198-1207 | PDB |
| 6ZY5 | EM | 360 A | A/B | 1-1531 | PDB |
| 6ZY6 | EM | 410 A | A/B | 1-1531 | PDB |
| 6ZY7 | EM | 464 A | A/B | 1-1531 | PDB |
| 6ZY8 | EM | 740 A | A/B | 1-1531 | PDB |
| AF-P11388-F1 | Predicted | AlphaFoldDB |
851 variants for P11388
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA204067 RCV000190129 rs796052143 |
88 | I>T | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs267607133 VAR_007533 CA126868 RCV000018260 |
487 | R>K | Dna topoisomerase II, resistance to inhibition of, by amsacrine amsacrine resistant cells [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| TCGA novel | 2 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs902922533 CA290530899 |
3 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA399354594 rs1298821177 |
7 | Q>H | No |
ClinGen TOPMed |
|
|
rs1440570848 CA399354596 |
7 | Q>P | No |
ClinGen TOPMed |
|
|
rs1289313411 CA399354177 |
10 | N>S | No |
ClinGen gnomAD |
|
|
rs752723720 CA8543860 |
13 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA399354127 rs1197230620 |
13 | M>R | No |
ClinGen TOPMed |
|
|
rs1316020312 CA399354103 |
15 | V>I | No |
ClinGen gnomAD |
|
|
CA8543858 rs756092705 |
16 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1199340896 CA399354050 |
18 | I>M | No |
ClinGen TOPMed |
|
|
rs369852373 CA8543856 |
20 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 24 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399353933 rs1424484074 |
26 | K>E | No |
ClinGen gnomAD |
|
|
rs761604860 CA8543853 |
26 | K>N | No |
ClinGen ExAC gnomAD |
|
| rs763792949 | 29 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM978888 CA290530584 rs963352942 |
32 | R>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA399353804 rs1416728144 |
35 | Q>R | No |
ClinGen gnomAD |
|
|
rs773891227 CA8543851 |
39 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA399353679 rs1296708366 |
45 | L>F | No |
ClinGen TOPMed |
|
|
rs1567792188 CA399353576 |
53 | S>P | No |
ClinGen Ensembl |
|
| TCGA novel | 53 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs549097402 CA8543846 |
55 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 56 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399353533 rs1266743916 |
56 | L>S | No |
ClinGen gnomAD |
|
|
CA8543840 rs187674496 |
61 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777879639 CA8543839 |
68 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8543838 rs772240354 |
69 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA399353297 rs1332466568 |
70 | I>V | No |
ClinGen TOPMed |
|
|
rs1019417784 CA399353271 |
72 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1019417784 CA290530531 |
72 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1242573634 CA399353260 |
74 | E>K | No |
ClinGen TOPMed |
|
|
rs1490438473 CA399353246 |
76 | T>A | No |
ClinGen gnomAD |
|
|
rs373052063 CA8543836 |
76 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399353238 rs1203204555 |
77 | F>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 87 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399353158 rs796052143 |
88 | I>N | No |
ClinGen TOPMed |
|
|
CA399353159 rs796052143 |
88 | I>S | No |
ClinGen TOPMed |
|
|
CA399353123 rs1203191432 |
92 | A>S | No |
ClinGen gnomAD |
|
|
CA399353124 rs1203191432 |
92 | A>T | No |
ClinGen gnomAD |
|
|
CA290530412 rs1018933690 |
93 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 95 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290530404 rs61054733 |
96 | K>N | No |
ClinGen Ensembl |
|
|
CA8543818 rs773676790 |
96 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs57842097 CA290530402 |
97 | Q>K | No |
ClinGen Ensembl |
|
|
CA399353068 rs1225618145 |
100 | P>S | No |
ClinGen gnomAD |
|
|
CA290530399 rs1009430190 |
101 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 102 | M>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 103 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399353036 rs1436802127 |
104 | C>* | No |
ClinGen gnomAD |
|
|
CA399353025 rs1380174914 |
106 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1380174914 CA399353024 |
106 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1335490488 CA399353020 |
107 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA399353018 rs1335490488 |
107 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA399353007 rs1414600000 |
109 | I>V | No |
ClinGen gnomAD |
|
|
rs1347294511 CA399352988 |
111 | P>L | No |
ClinGen TOPMed |
|
|
rs1371166899 CA399352943 |
116 | I>V | No |
ClinGen gnomAD |
|
|
rs1414741244 CA399352937 |
117 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA399352889 rs1418769357 |
123 | K>* | No |
ClinGen gnomAD |
|
|
rs967876210 CA290529599 |
125 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs930032673 CA290529596 |
131 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1012367614 CA290529592 |
132 | V>I | No |
ClinGen TOPMed |
|
|
CA290529590 rs919128157 |
135 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1240257662 CA399352085 |
150 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 154 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 156 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399351959 rs1203971586 |
166 | G>E | No |
ClinGen gnomAD |
|
|
rs867525891 CA290529518 |
171 | N>K | No |
ClinGen Ensembl |
|
|
CA399351887 rs1329284445 |
176 | K>R | No |
ClinGen gnomAD |
|
|
CA290529512 rs80184041 |
180 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs80184041 CA8543796 |
180 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8543795 rs575665799 |
180 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8543794 rs774581970 |
181 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs867039956 CA290529500 |
182 | A>S | No |
ClinGen Ensembl |
|
|
rs868251333 CA290529498 |
182 | A>V | No |
ClinGen Ensembl |
|
|
CA8543793 rs562223504 |
184 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456737212 CA399351807 |
188 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 189 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1161521897 CA399351799 |
189 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1318467719 CA399351785 |
191 | K>E | No |
ClinGen TOPMed |
|
|
rs1200411904 CA399351772 |
192 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 193 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 194 | W>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1305742480 CA399351737 |
195 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1598619477 CA399351743 |
195 | M>V | No |
ClinGen Ensembl |
|
|
rs1271981703 CA399351731 |
196 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 198 | M>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 200 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8543777 rs750943457 |
202 | G>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 204 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 204 | M>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 204 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399351676 rs1450496609 |
204 | M>L | No |
ClinGen gnomAD |
|
| TCGA novel | 204 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399351674 rs1378565900 |
204 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 205 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 205 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 205 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 205 | E>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399351658 rs1303551135 |
206 | L>H | No |
ClinGen gnomAD |
|
| TCGA novel | 209 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 210 | N>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8543776 rs767966896 |
210 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA8543775 rs762199370 |
216 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8543774 rs774741572 |
222 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA399351411 rs1161316261 |
223 | L>V | No |
ClinGen gnomAD |
|
|
CA399351325 rs1598619416 |
228 | M>T | No |
ClinGen Ensembl |
|
|
CA399351329 rs1413856865 |
228 | M>V | No |
ClinGen gnomAD |
|
|
rs763290822 CA8543772 |
230 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs535625351 CA8543771 |
230 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745883014 CA8543769 |
234 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1266779809 CA399351233 |
234 | D>N | No |
ClinGen gnomAD |
|
|
rs748067068 CA8543766 |
235 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA8543767 rs772094260 |
235 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8543761 rs755673628 |
247 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1361160549 CA399351012 |
250 | T>S | No |
ClinGen TOPMed |
|
|
CA399350973 rs1410779848 |
254 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1372818078 CA399350970 |
254 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs922963611 CA290529370 |
256 | F>C | No |
ClinGen TOPMed |
|
|
rs372917040 CA8543760 |
258 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1567790430 CA399350901 |
260 | N>S | No |
ClinGen Ensembl |
|
|
rs1356187720 CA399350878 |
261 | K>N | No |
ClinGen TOPMed |
|
|
CA399350858 rs1214059402 |
263 | P>L | No |
ClinGen TOPMed |
|
|
CA399350761 rs1197831792 |
264 | V>L | No |
ClinGen gnomAD |
|
|
rs867092479 CA290529007 |
268 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs768511753 COSM1630175 CA8543746 |
268 | R>H | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs369242449 CA8543743 |
273 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399350624 rs1246819670 |
273 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1267550879 CA399350536 |
278 | K>R | No |
ClinGen gnomAD |
|
|
CA8543742 rs745501541 |
282 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1357640416 CA399350444 |
285 | S>Y | No |
ClinGen TOPMed |
|
|
rs1331818362 CA399350434 |
286 | L>F | No |
ClinGen gnomAD |
|
|
CA8543739 rs752063062 |
290 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1303931535 CA399350376 |
290 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8543738 rs529749370 |
290 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA290528982 rs1033790411 |
292 | Q>E | No |
ClinGen TOPMed |
|
|
CA399350309 rs1432409139 |
295 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA399350259 rs1386676028 |
298 | E>V | No |
ClinGen TOPMed |
|
|
RCV000887506 rs200471658 CA8543737 |
303 | M>I | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA399350209 rs1364100698 |
303 | M>V | No |
ClinGen gnomAD |
|
|
rs1466315469 CA399350073 |
312 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 316 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399349951 rs1379129823 |
321 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA8543713 rs779477113 |
329 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs755327161 CA8543712 |
330 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408947941 CA399349719 |
333 | I>T | No |
ClinGen gnomAD |
|
|
rs756295402 CA8543709 |
337 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8543710 rs756295402 |
337 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750512150 CA8543708 |
338 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1411867746 CA399349647 |
339 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 342 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762860162 CA8543706 |
345 | N>K | No |
ClinGen ExAC |
|
|
rs775496859 CA8543705 |
348 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1180678621 CA399349571 |
349 | V>A | No |
ClinGen gnomAD |
|
|
rs749632720 CA8543692 |
362 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA399349395 rs1245723991 |
372 | T>I | No |
ClinGen gnomAD |
|
|
CA399349394 rs1245723991 |
372 | T>N | No |
ClinGen gnomAD |
|
|
rs1413976895 CA399349383 |
374 | D>H | No |
ClinGen TOPMed |
|
|
rs1413976895 CA399349384 |
374 | D>N | No |
ClinGen TOPMed |
|
|
CA399349344 rs1265695309 |
379 | E>A | No |
ClinGen gnomAD |
|
|
CA399349342 rs1207622603 |
379 | E>D | No |
ClinGen gnomAD |
|
|
CA399349332 rs1567789752 |
381 | M>V | No |
ClinGen Ensembl |
|
|
rs376965819 CA8543689 |
383 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399349310 rs1269947285 |
384 | Q>E | No |
ClinGen gnomAD |
|
|
CA399349302 rs990318461 |
385 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs990318461 CA290528793 |
385 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs757299160 CA8543687 |
386 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA290528783 rs748048325 |
387 | S>G | No |
ClinGen Ensembl |
|
| TCGA novel | 387 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399349279 rs1437415043 |
388 | F>C | No |
ClinGen gnomAD |
|
|
CA399349244 rs1434482245 |
393 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA8543684 rs759355547 |
396 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1424870552 CA399349190 |
400 | K>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 403 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1468209715 CA399348446 |
403 | I>T | No |
ClinGen TOPMed |
|
|
CA8543619 rs748185039 |
404 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA8543616 rs79747707 |
405 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1275255458 CA399348431 |
406 | G>S | No |
ClinGen gnomAD |
|
|
CA399348419 rs1334829710 |
407 | I>M | No |
ClinGen gnomAD |
|
|
CA399348421 rs1415942807 |
407 | I>N | No |
ClinGen TOPMed |
|
|
CA8543614 rs80336097 |
408 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs80336097 CA290527863 |
408 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA290527861 rs996647398 |
410 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA399348365 rs1598616855 |
415 | V>G | No |
ClinGen Ensembl |
|
|
CA399348360 rs1348201069 |
416 | K>R | No |
ClinGen gnomAD |
|
|
CA399348339 rs751266631 |
419 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8543613 rs751266631 |
419 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8543610 rs752295683 |
425 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA8543608 rs760149464 |
429 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399348264 rs1176811906 |
430 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 435 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8543604 rs773454549 |
442 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275627884 CA399348154 |
445 | N>S | No |
ClinGen TOPMed |
|
|
rs1334696836 CA399348146 |
446 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 449 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1419834274 CA399348111 |
450 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
VAR_007532 CA8543594 rs746765101 |
450 | R>Q | teniposide (VM-26) resistant cells [UniProt] | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
CA399348089 rs1468111537 |
453 | T>S | No |
ClinGen gnomAD |
|
|
CA399348080 rs1253763913 |
454 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs777684063 CA8543593 |
455 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777684063 CA399348076 |
455 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399348066 rs1370163835 |
457 | L>I | No |
ClinGen TOPMed |
|
|
CA399348062 rs1474255319 |
457 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 459 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1318275483 CA399347981 |
470 | V>I | No |
ClinGen gnomAD |
|
|
CA8543587 rs766823808 |
475 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1305040351 CA399347942 |
476 | V>A | No |
ClinGen gnomAD |
|
|
rs878945622 CA290527797 |
479 | D>E | No |
ClinGen Ensembl |
|
|
rs1432792353 CA399347926 |
479 | D>H | No |
ClinGen gnomAD |
|
|
rs372886888 CA8543585 |
481 | Y>C | No |
ClinGen ESP ExAC |
|
| TCGA novel | 481 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1598616551 CA399347894 |
483 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 490 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399347852 rs1315397310 |
490 | I>V | No |
ClinGen TOPMed |
|
|
CA399347825 rs1233232279 |
494 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA399347823 rs1454032885 |
494 | R>Q | No |
ClinGen gnomAD |
|
|
CA399347798 rs1395766678 |
498 | H>P | No |
ClinGen gnomAD |
|
|
CA399347792 rs1292090168 |
499 | K>E | No |
ClinGen TOPMed |
|
|
rs544361214 CA290527789 |
499 | K>R | No |
ClinGen 1000Genomes |
|
|
rs1175765892 CA399347753 |
502 | M>I | No |
ClinGen TOPMed |
|
|
rs1430850603 CA399347758 |
502 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 505 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399347701 rs1255842069 |
509 | N>S | No |
ClinGen gnomAD |
|
|
CA399347683 rs1393596717 |
512 | K>Q | No |
ClinGen TOPMed |
|
|
rs1187698247 CA399347671 |
513 | I>T | No |
ClinGen gnomAD |
|
|
CA399347646 rs1485756174 |
517 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 518 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1434551736 CA399347632 |
519 | K>* | No |
ClinGen TOPMed |
|
|
CA8543563 rs762022284 |
529 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs751826012 CA8543562 |
530 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs764177670 CA8543561 |
530 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290527746 COSM3795583 rs867421081 |
532 | R>C | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs942045120 CA290527745 |
532 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA399347519 rs544564789 |
535 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8543558 rs544564789 |
535 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183293679 CA399347433 |
545 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 554 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8543543 rs763146849 |
558 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1281867397 CA399347333 |
559 | H>Y | No |
ClinGen gnomAD |
|
|
CA399347300 rs765414730 |
563 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA8543541 rs765414730 |
563 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs773306190 CA8543539 |
566 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771864534 CA399347275 |
568 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771864534 CA8543538 |
568 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs761780273 CA8543537 |
568 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761780273 CA399347274 |
568 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8543536 rs774071258 |
571 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 573 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748942990 CA8543534 |
578 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1385162091 CA399347210 |
578 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1385162091 CA399347208 |
578 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1240783624 CA399347168 |
582 | K>N | No |
ClinGen TOPMed |
|
|
rs770475073 CA8543508 |
582 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA8543507 rs747478111 |
583 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 583 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8543506 rs778287891 |
585 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1175950233 CA399347128 |
587 | M>I | No |
ClinGen gnomAD |
|
|
rs1258676177 CA399347124 |
588 | A>E | No |
ClinGen TOPMed |
|
|
rs748486166 CA8543504 |
594 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA399347034 rs1413326763 |
600 | S>N | No |
ClinGen gnomAD |
|
|
CA290527541 rs779390067 |
600 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA8543502 rs755300638 |
602 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290527538 rs991160553 |
603 | P>L | No |
ClinGen TOPMed |
|
|
CA290527536 rs916922324 |
604 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs754086154 CA8543501 |
605 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs756159113 CA8543499 |
606 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA8543500 rs756159113 |
606 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 612 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1460890548 CA399346902 |
617 | G>D | No |
ClinGen gnomAD |
|
|
CA399346874 rs1598615750 |
621 | S>L | No |
ClinGen Ensembl |
|
|
rs1345592132 CA399346864 |
623 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 626 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8543479 rs780272248 CA8543480 |
630 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs756175908 CA8543478 |
632 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1026506158 CA290527507 |
634 | H>R | No |
ClinGen Ensembl |
|
|
rs750554230 CA8543477 |
635 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs781223284 CA8543476 |
635 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs994582393 CA290527503 |
636 | I>V | No |
ClinGen Ensembl |
|
|
CA399346766 rs1567787641 |
637 | Q>* | No |
ClinGen Ensembl |
|
|
CA399346733 rs1598615717 |
641 | S>P | No |
ClinGen Ensembl |
|
|
rs765025262 CA8543473 |
643 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1251908003 CA399346717 |
644 | E>K | No |
ClinGen TOPMed |
|
|
rs753458370 CA8543471 |
647 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA8543472 rs759271883 |
647 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8543470 rs766016981 |
650 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 652 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290527030 rs11656816 |
654 | S>I | No |
ClinGen Ensembl |
|
|
rs1260550585 CA399346613 |
657 | Q>* | No |
ClinGen gnomAD |
|
|
CA8543458 rs770099167 |
657 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA290527020 rs377178259 |
658 | I>T | No |
ClinGen ESP gnomAD |
|
|
rs142503988 CA290527023 |
658 | I>V | No |
ClinGen 1000Genomes |
|
|
CA399346598 rs1277501166 |
659 | D>G | No |
ClinGen gnomAD |
|
|
CA399346543 rs1242276493 |
667 | N>D | No |
ClinGen TOPMed |
|
| TCGA novel | 668 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399346519 rs1380498760 |
670 | E>K | No |
ClinGen gnomAD |
|
|
rs1354250910 CA399346505 |
671 | D>G | No |
ClinGen TOPMed |
|
|
CA399346504 rs1354250910 |
671 | D>V | No |
ClinGen TOPMed |
|
|
CA8543455 rs757263315 |
674 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA399346479 rs1400775827 |
675 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA399346478 rs1362694506 |
675 | R>Q | No |
ClinGen gnomAD |
|
|
CA8543454 rs752649673 |
678 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1434203704 CA399346453 |
679 | G>R | No |
ClinGen gnomAD |
|
|
rs1378326486 CA399346439 |
681 | P>L | No |
ClinGen gnomAD |
|
|
rs746109594 CA8543440 |
684 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs771025828 CA8543438 |
686 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA8543437 rs747054164 |
687 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777799472 CA8543436 |
690 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA290526920 rs367915900 |
692 | Y>F | No |
ClinGen ESP |
|
|
rs1329483854 CA399346357 |
692 | Y>N | No |
ClinGen TOPMed |
|
|
rs1186778227 CA625955222 |
695 | Y>* | No |
ClinGen gnomAD |
|
|
rs749170584 CA8543434 |
698 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8543433 rs779966669 |
699 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA399346287 rs1442744919 |
702 | E>K | No |
ClinGen gnomAD |
|
|
rs750121298 CA8543431 |
705 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA290526915 rs1028629280 |
712 | E>D | No |
ClinGen Ensembl |
|
|
rs1251112801 CA399346216 |
712 | E>K | No |
ClinGen TOPMed |
|
|
CA8543428 rs751160270 |
718 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA8543429 rs756935294 |
718 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1244321118 CA399346169 |
719 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA399346170 rs1244321118 |
719 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1376211836 CA399346139 |
721 | G>D | No |
ClinGen gnomAD |
|
|
rs1376211836 CA399346140 |
721 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 724 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 727 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8543412 rs781108895 |
729 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399346058 rs1312656424 |
733 | C>S | No |
ClinGen gnomAD |
|
|
rs529567113 CA290526875 |
734 | F>L | No |
ClinGen 1000Genomes |
|
|
CA399346029 rs1383067824 |
737 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8543411 rs757023270 |
738 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs763661948 CA8543409 |
739 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA8543408 rs757791718 |
740 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757791718 CA399346012 |
740 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399346011 rs1287316461 |
740 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8543407 rs201787875 |
742 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8543406 rs760009669 |
744 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA8543405 rs760009669 |
744 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs767346882 CA399345979 |
745 | A>G | No |
ClinGen Ensembl |
|
|
CA290526854 rs767346882 |
745 | A>V | No |
ClinGen Ensembl |
|
|
rs1452430795 CA399345919 |
754 | M>I | No |
ClinGen gnomAD |
|
|
CA290526533 rs1049836086 |
767 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 767 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1321678916 CA399345809 |
768 | I>V | No |
ClinGen TOPMed |
|
|
rs1488062405 CA399345794 |
770 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8543388 RCV000969922 rs61756342 |
774 | N>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8543387 rs778465453 |
774 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs61756342 CA399345765 |
774 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8543386 rs755536258 |
777 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs780794277 CA290526518 |
778 | S>G | No |
ClinGen Ensembl |
|
|
rs1247797291 CA399345728 |
780 | N>H | No |
ClinGen TOPMed |
|
|
CA290526515 rs199558974 |
783 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA290526511 rs549354901 |
783 | L>P | No |
ClinGen Ensembl |
|
|
rs1268721916 CA399345678 |
787 | I>T | No |
ClinGen gnomAD |
|
|
rs748850219 CA8543385 |
793 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 793 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1490399368 CA399345635 |
794 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1299629464 CA399345620 |
796 | G>C | No |
ClinGen gnomAD |
|
|
CA399345567 rs1479268364 |
804 | R>* | No |
ClinGen TOPMed |
|
|
rs1358067511 CA399345539 |
808 | T>A | No |
ClinGen gnomAD |
|
|
rs1334310157 CA399345535 |
808 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 809 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs921775078 CA290526499 |
809 | M>T | No |
ClinGen Ensembl |
|
|
rs926287896 CA290526503 COSM304240 |
809 | M>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA399345524 rs1417334471 |
810 | L>P | No |
ClinGen gnomAD |
|
|
CA8543383 rs760977883 |
810 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422220032 CA399356392 |
812 | S>F | No |
ClinGen gnomAD |
|
|
rs1413389278 CA399356376 |
815 | R>Q | No |
ClinGen gnomAD |
|
|
rs1227704023 CA399356370 |
816 | L>S | No |
ClinGen TOPMed |
|
|
CA8543372 rs777597850 |
817 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA8543373 rs566785220 |
817 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399356360 rs1598612788 |
818 | F>L | No |
ClinGen Ensembl |
|
|
rs1458651388 CA399356344 |
820 | P>Q | No |
ClinGen gnomAD |
|
|
rs771674550 CA8543371 |
820 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290527395 rs950938894 |
821 | K>N | No |
ClinGen TOPMed |
|
|
rs747824085 CA8543370 |
823 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs778354642 CA8543369 COSM4151604 |
825 | T>M | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs780497426 CA8543365 |
834 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA8543364 rs756580989 |
835 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399356236 rs750801789 |
835 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8543363 rs750801789 |
835 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756580989 CA399356238 |
835 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767910741 CA8543362 |
837 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 839 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399356195 rs757484427 |
841 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs757484427 CA8543361 |
841 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1016655246 CA290527375 |
842 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA8543360 rs377483360 |
844 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373290799 CA8543359 |
847 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8543358 rs201279322 |
848 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776743759 CA8543357 |
850 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 850 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766462936 CA8543356 |
852 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1169634334 CA399356106 |
855 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1190028355 CA399356036 |
865 | P>R | No |
ClinGen gnomAD |
|
|
rs1342403147 CA399356010 |
869 | V>M | No |
ClinGen TOPMed |
|
|
rs772938292 CA8543354 |
870 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3362127 CA8543353 rs192926120 |
870 | R>H | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs747761743 CA8543352 |
872 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA8543351 rs773937207 |
873 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768183915 CA8543350 |
876 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs371274856 CA290527349 |
878 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs548652478 CA8543349 |
878 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs548652478 CA8543348 |
878 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8543345 rs368076464 |
881 | D>E | No |
ClinGen ExAC gnomAD |
|
|
COSM1610188 rs1368038096 CA399355933 |
881 | D>N | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1438807480 CA399355926 |
882 | G>R | No |
ClinGen gnomAD |
|
|
rs1358867796 CA399355906 |
884 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 884 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399355900 rs1420357634 |
885 | P>L | No |
ClinGen gnomAD |
|
|
CA399355903 rs559250796 |
885 | P>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA290527342 rs559250796 |
885 | P>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA399355889 rs1382290191 |
887 | P>R | No |
ClinGen gnomAD |
|
|
rs757581475 CA8543344 |
887 | P>S | No |
ClinGen ExAC |
|
|
rs375583386 CA290527337 |
888 | M>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8543343 rs750435681 |
888 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA290527294 rs946254664 |
889 | L>R | No |
ClinGen Ensembl |
|
|
CA8543330 rs748924788 |
891 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA399355857 rs1477035119 |
891 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs61732513 CA8543329 RCV000890315 |
893 | K>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8543328 rs769276528 |
894 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA399355805 rs1472102744 |
898 | T>A | No |
ClinGen TOPMed |
|
|
rs542323139 CA8543327 |
899 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8543325 rs374861292 |
903 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs186830718 CA8543324 |
904 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8543323 rs186830718 |
904 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1317066219 CA399355764 |
905 | N>D | No |
ClinGen gnomAD |
|
|
CA8543322 rs758755407 |
905 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA290527280 rs1034460946 |
906 | Q>R | No |
ClinGen TOPMed |
|
|
rs1285425322 CA399355726 |
910 | S>N | No |
ClinGen gnomAD |
|
|
CA8543320 rs779140412 |
912 | E>K | No |
ClinGen ExAC gnomAD |
|
|
COSM1382973 rs970624563 CA290527274 |
913 | V>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA8543319 rs755029136 COSM78682 |
913 | V>I | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA399355704 rs1403066741 |
914 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA399355699 rs1339235328 |
914 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1411883240 CA399355663 |
920 | T>A | No |
ClinGen TOPMed |
|
|
rs1400011738 CA399355661 |
920 | T>S | No |
ClinGen gnomAD |
|
|
COSM1521113 CA399355655 rs1171847628 |
921 | I>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA8543318 rs367852231 |
922 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1366387100 CA399355645 |
923 | I>V | No |
ClinGen gnomAD |
|
|
CA8543316 rs761633568 |
927 | P>H | No |
ClinGen ExAC |
|
|
rs767528351 CA8543317 |
927 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3362126 rs202231304 CA8543313 |
928 | V>I | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1176686546 CA399355601 |
930 | T>A | No |
ClinGen gnomAD |
|
|
CA399355592 rs1457269819 |
931 | W>* | No |
ClinGen gnomAD |
|
|
rs1364051786 CA399355530 |
938 | Q>E | No |
ClinGen gnomAD |
|
|
CA8543298 rs570040048 |
939 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1266499144 CA399355503 |
942 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1266499144 CA399355505 |
942 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1567784739 CA399355495 |
943 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 948 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs919527849 CA399355462 |
948 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA290527217 rs919527849 |
948 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA399355429 rs1238100840 |
953 | L>V | No |
ClinGen gnomAD |
|
|
rs1353554870 CA399355424 |
954 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA399355423 rs1353554870 |
954 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8543295 COSM1302769 rs375158687 |
955 | T>A | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA399355400 rs1186719676 |
957 | Y>C | No |
ClinGen TOPMed |
|
|
CA8543293 rs752374198 |
958 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8543292 rs768139136 |
959 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295756742 CA399355362 |
962 | T>I | No |
ClinGen gnomAD |
|
|
CA399355317 rs1598612246 |
969 | V>F | No |
ClinGen Ensembl |
|
|
CA8543288 rs760129223 |
970 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290527203 rs942204594 |
971 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA290527201 rs760804206 |
972 | M>L | No |
ClinGen Ensembl |
|
|
CA8543287 rs773798509 |
973 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs910704741 CA290527199 |
976 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA399355247 rs1452364476 |
979 | E>D | No |
ClinGen gnomAD |
|
|
CA290527195 rs953920368 |
981 | E>Q | No |
ClinGen TOPMed |
|
|
CA399355228 rs1271351504 |
982 | R>S | No |
ClinGen gnomAD |
|
|
rs1228407789 CA399355222 |
983 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 984 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774554644 CA8543284 |
990 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749465952 CA8543282 |
994 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs780186261 CA8543281 |
995 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA290527188 rs551595236 |
998 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA399355123 rs551595236 |
998 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1347833431 CA399355119 |
999 | S>P | No |
ClinGen gnomAD |
|
|
CA399355108 rs1275876577 |
1000 | M>I | No |
ClinGen gnomAD |
|
|
CA8543278 rs756125132 |
1000 | M>T | No |
ClinGen ExAC |
|
|
rs1555579902 CA8543279 |
1000 | M>V | No |
ClinGen Ensembl |
|
|
CA399355075 rs1188554108 |
1004 | D>N | No |
ClinGen gnomAD |
|
|
CA8543254 rs372742697 |
1005 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs564747456 CA8543253 |
1006 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399355012 rs1567784495 |
1012 | Y>* | No |
ClinGen Ensembl |
|
|
rs750009096 CA8543251 |
1012 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs368354356 CA8543250 |
1014 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs79538343 CA290527134 |
1015 | V>G | No |
ClinGen Ensembl |
|
|
rs375612751 CA8543247 |
1016 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA290527128 rs927323294 |
1016 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
RCV000714766 rs1567784471 CA399354985 |
1017 | D>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1274650999 CA399354962 |
1020 | R>S | No |
ClinGen gnomAD |
|
|
CA8543246 rs763187500 |
1021 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA399354961 rs1379217533 |
1021 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA399354960 rs1379217533 |
1021 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1445724813 CA399354883 |
1031 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs775891272 CA399354839 |
1037 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775891272 CA8543245 |
1037 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1038 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399354828 rs1177599316 |
1039 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 1040 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772606431 CA290527122 |
1044 | E>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 1050 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1245536089 CA399354757 |
1050 | N>Y | No |
ClinGen gnomAD |
|
|
rs770048937 CA8543244 |
1051 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA399354742 rs1374612424 |
1052 | A>S | No |
ClinGen gnomAD |
|
|
rs759743884 CA8543243 |
1053 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776759121 CA8543242 |
1053 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776759121 CA399354735 |
1053 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399354720 rs1308193795 |
1055 | I>M | No |
ClinGen TOPMed |
|
|
CA8543240 rs748130935 |
1057 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs778671394 COSM267617 CA8543239 |
1059 | I>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA8543237 rs749079578 |
1060 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA8543238 rs749079578 |
1060 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1351984933 CA399354682 |
1061 | G>D | No |
ClinGen TOPMed |
|
|
CA399354658 rs1446935316 |
1064 | I>M | No |
ClinGen gnomAD |
|
|
rs1236909685 CA399354657 |
1065 | I>L | No |
ClinGen gnomAD |
|
|
rs1168520664 CA399354558 |
1069 | P>A | No |
ClinGen TOPMed |
|
|
CA399354554 rs1567784018 |
1069 | P>L | No |
ClinGen Ensembl |
|
|
rs760634848 CA8543221 |
1076 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8543220 rs374632990 |
1078 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8543219 rs768526879 |
1080 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1216341519 CA399354477 |
1081 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8543217 rs779996659 |
1084 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8543216 rs769651776 |
1089 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA399354413 rs1358690772 |
1090 | W>* | No |
ClinGen gnomAD |
|
|
rs902960380 CA290526953 |
1091 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs906018018 CA290526951 |
1092 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA399354394 rs1454722732 |
1093 | A>T | No |
ClinGen gnomAD |
|
|
CA8543202 rs61732514 RCV000949600 |
1097 | V>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA290526933 rs928507830 |
1099 | D>G | No |
ClinGen TOPMed |
|
|
rs372847016 CA290526934 |
1099 | D>H | No |
ClinGen ESP gnomAD |
|
|
CA8543201 rs762995023 |
1101 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1463699224 CA399354308 |
1103 | N>S | No |
ClinGen gnomAD |
|
|
rs1422502108 CA399354283 |
1106 | S>T | No |
ClinGen gnomAD |
|
|
COSM129825 CA399354262 rs1429745884 |
1109 | E>K | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs199941801 CA8543199 |
1110 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745697328 CA8543198 |
1112 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567783855 CA399354208 |
1115 | S>R | No |
ClinGen Ensembl |
|
|
rs776543941 CA8543197 |
1115 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1116 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399354184 rs1360798258 |
1117 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1286659046 CA399354190 |
1117 | S>P | No |
ClinGen TOPMed |
|
|
CA399354192 rs1286659046 |
1117 | S>T | No |
ClinGen TOPMed |
|
|
CA8543195 rs746667611 |
1118 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1120 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1396316312 CA399354122 |
1122 | G>E | No |
ClinGen TOPMed |
|
|
CA399354110 rs1314594003 |
1123 | P>Q | No |
ClinGen TOPMed |
|
|
rs377111582 CA8543192 |
1124 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399354099 rs1598611304 |
1124 | T>N | No |
ClinGen Ensembl |
|
|
rs987123879 CA290526922 |
1126 | N>K | No |
ClinGen Ensembl |
|
|
rs755450601 CA8543190 |
1126 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399354004 rs1260289875 |
1131 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 1131 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399353967 rs1183761378 |
1134 | W>R | No |
ClinGen TOPMed |
|
|
CA399353961 COSM1610187 rs1339804168 |
1134 | W>S | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA8543183 rs761940756 |
1145 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8543184 rs767512410 |
1145 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA399353796 rs1366146226 |
1146 | R>G | No |
ClinGen gnomAD |
|
|
CA8543182 rs774540798 |
1146 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs191959305 CA8543181 |
1148 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1567783763 CA399353761 |
1149 | N>H | No |
ClinGen Ensembl |
|
|
CA399353753 rs1344150002 |
1149 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 1152 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8543161 rs753752989 |
1153 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764262501 CA8543162 |
1153 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA399353642 rs1265511322 |
1154 | E>Q | No |
ClinGen gnomAD |
|
|
CA399353616 rs1490533058 |
1156 | D>N | No |
ClinGen gnomAD |
|
|
rs760478531 CA8543158 |
1157 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000898270 CA8543157 rs61756257 |
1160 | R>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA399353513 rs1350598912 |
1163 | P>Q | No |
ClinGen gnomAD |
|
|
rs773920841 CA8543154 |
1165 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8543155 rs553900976 |
1165 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA290526885 rs1039131862 |
1172 | A>D | No |
ClinGen Ensembl |
|
| TCGA novel | 1174 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399353334 rs1366829886 COSM978875 |
1177 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1420892220 CA399353306 |
1179 | E>K | No |
ClinGen gnomAD |
|
|
CA399352721 rs1196193520 |
1184 | K>E | No |
ClinGen TOPMed |
|
|
CA290526456 rs961690090 |
1185 | E>Q | No |
ClinGen Ensembl |
|
|
rs1005982654 CA290526452 |
1187 | Q>R | No |
ClinGen gnomAD |
|
|
rs1470403543 CA399352688 |
1188 | D>G | No |
ClinGen gnomAD |
|
|
rs1431685054 CA399352678 |
1189 | E>D | No |
ClinGen gnomAD |
|
|
rs778816213 CA290526450 |
1191 | V>A | No |
ClinGen Ensembl |
|
|
CA8543138 rs545265261 |
1192 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773941131 CA8543136 |
1193 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8543137 rs761462536 |
1193 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs202201081 RCV000239186 CA8543135 |
1194 | P>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA290526443 rs998123202 |
1195 | G>E | No |
ClinGen TOPMed |
|
|
rs1326161636 CA399352640 |
1196 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
RCV000886718 rs1804537 CA8543130 |
1197 | G>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1804537 CA8543132 RCV000955523 |
1197 | G>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs183766786 CA8543133 |
1197 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1804537 CA8543131 |
1197 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA290526430 rs925284735 |
1198 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
TCGA novel rs200739247 CA8543127 |
1198 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ESP ExAC TOPMed gnomAD |
|
CA8543128 rs200739247 |
1198 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752872052 CA8543125 |
1199 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1199 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290526425 rs565710762 |
1199 | K>R | No |
ClinGen Ensembl |
|
|
rs778849461 CA8543124 |
1200 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778849461 CA290526422 |
1200 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229580995 CA399352609 |
1202 | G>E | No |
ClinGen TOPMed |
|
|
rs1356377364 CA399352612 |
1202 | G>R | No |
ClinGen TOPMed |
|
|
rs1287262198 CA399352606 |
1203 | K>E | No |
ClinGen TOPMed |
|
|
CA399352593 rs1409618476 |
1204 | K>N | No |
ClinGen gnomAD |
|
|
CA8543122 rs750263737 |
1205 | T>I | No |
ClinGen ExAC |
|
|
rs201658081 CA290526415 |
1205 | T>P | No |
ClinGen Ensembl |
|
|
rs201658081 CA399352590 |
1205 | T>S | No |
ClinGen Ensembl |
|
|
rs767318869 CA8543121 |
1206 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA8543119 rs377172251 |
1208 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377172251 CA399352567 |
1208 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762498516 CA8543117 |
1209 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA399352530 rs970752438 |
1214 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs970752438 CA290526405 |
1214 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs774202206 CA8543115 |
1215 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8543113 rs777230505 |
1215 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8543114 rs777230505 |
1215 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8543112 rs771454888 |
1216 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1358170445 CA399352517 |
1217 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8543111 rs747419092 |
1219 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1220 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3819494 rs572906357 CA8543108 |
1222 | R>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA8543106 rs190217688 |
1222 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8543107 rs190217688 |
1222 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754958514 CA8543105 |
1225 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8543104 rs369925563 |
1226 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1342821135 CA399352467 |
1226 | E>K | No |
ClinGen TOPMed |
|
|
CA8543103 rs375484270 |
1229 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA290526387 rs887373978 |
1229 | A>V | No |
ClinGen TOPMed |
|
|
rs757160871 CA8543102 |
1230 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1365110327 CA399352430 |
1231 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1365110327 CA399352431 COSM3717336 |
1231 | A>T | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA8543101 rs1141364 |
1233 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs758074136 CA8543099 CA8543100 |
1235 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA290526377 rs1048647885 |
1235 | N>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1236 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1177024422 CA399352383 |
1237 | K>N | No |
ClinGen gnomAD |
|
|
rs752231871 CA8543098 |
1239 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8543088 rs774393765 |
1241 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs768889807 CA8543087 |
1241 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749413974 CA8543086 |
1243 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA399352325 rs1196731936 |
1244 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1323137496 CA399352322 |
1244 | T>S | No |
ClinGen gnomAD |
|
|
CA399352303 rs1406826612 |
1247 | S>N | No |
ClinGen gnomAD |
|
|
rs757251002 CA8543084 |
1247 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290526110 rs374750083 |
1251 | D>G | No |
ClinGen ESP TOPMed |
|
|
rs746880959 CA8543083 |
1251 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374750083 CA290526108 |
1251 | D>V | No |
ClinGen ESP TOPMed |
|
|
CA290526101 rs1038385949 |
1252 | G>D | No |
ClinGen Ensembl |
|
|
CA8543082 rs777634968 |
1256 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1256 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290526091 rs1048870912 |
1258 | L>P | No |
ClinGen Ensembl |
|
|
rs752426759 CA8543080 |
1258 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1259 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290526087 rs371196602 |
1260 | Q>R | No |
ClinGen ESP |
|
|
rs1178192767 CA399352198 |
1263 | E>V | No |
ClinGen gnomAD |
|
|
CA399352188 rs1426214611 |
1264 | K>N | No |
ClinGen gnomAD |
|
|
rs200849233 COSM1630172 CA290526085 |
1267 | K>R | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes |
|
CA399352161 rs1260503763 |
1268 | R>T | No |
ClinGen gnomAD |
|
|
rs765198287 CA290525627 |
1273 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs747942197 CA8543060 |
1276 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290525624 rs371038722 |
1278 | T>S | No |
ClinGen ESP TOPMed |
|
|
rs1383914239 CA399351532 |
1279 | T>A | No |
ClinGen gnomAD |
|
|
rs761853232 CA290525623 |
1279 | T>I | No |
ClinGen gnomAD |
|
|
CA399351510 rs1170477898 |
1281 | A>V | No |
ClinGen TOPMed |
|
|
CA399351490 rs1395356792 |
1283 | K>R | No |
ClinGen gnomAD |
|
|
rs754745530 CA8543058 |
1285 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs753477629 CA8543057 |
1288 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8543056 rs374189262 |
1289 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1162840186 CA399351380 |
1292 | N>Y | No |
ClinGen gnomAD |
|
|
rs755639982 CA8543055 |
1294 | W>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1297 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399351270 rs1386812191 |
1300 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1302 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749913740 CA8543054 |
1303 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA399351216 rs1330795155 |
1304 | D>G | No |
ClinGen TOPMed |
|
|
CA8543052 rs199816029 |
1305 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751933342 CA8543051 |
1306 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1289702036 CA399351171 |
1307 | N>I | No |
ClinGen gnomAD |
|
| TCGA novel | 1308 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399351157 rs1303771916 |
1308 | F>S | No |
ClinGen TOPMed |
|
|
CA399351119 rs1360833216 |
1311 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA290525614 rs960064368 |
1312 | P>L | No |
ClinGen TOPMed |
|
|
rs1804538 CA290525616 |
1312 | P>S | No |
ClinGen Ensembl |
|
|
CA8543047 rs769893345 |
1313 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749808122 CA8543046 |
1317 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8543044 rs771962850 |
1318 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399351041 rs1343014654 |
1318 | R>W | No |
ClinGen gnomAD |
|
|
rs748114589 CA8543043 |
1320 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA8543042 rs778579771 |
1321 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1452780486 CA399350997 |
1322 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1322 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8543022 rs372581162 |
1324 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8543021 rs28969502 |
1324 | T>I | No |
ClinGen ExAC gnomAD |
|
|
VAR_029245 CA290525578 rs28969502 |
1324 | T>K | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
CA290525575 rs1040706967 |
1325 | K>R | No |
ClinGen TOPMed |
|
|
rs1267901541 CA399350887 |
1327 | T>A | No |
ClinGen gnomAD |
|
|
CA290525573 rs1002192711 |
1327 | T>K | No |
ClinGen Ensembl |
|
|
CA399350869 rs1322525909 |
1328 | M>I | No |
ClinGen gnomAD |
|
|
CA8543018 rs202041615 |
1328 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8543019 rs542672709 |
1328 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1316356329 CA399350837 |
1331 | D>V | No |
ClinGen gnomAD |
|
|
CA8543017 rs756740455 |
1331 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399350826 rs1405172092 |
1333 | D>N | No |
ClinGen gnomAD |
|
|
CA290525570 rs1014315137 |
1334 | E>A | No |
ClinGen Ensembl |
|
|
rs563013978 COSM3421526 CA8543015 |
1336 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs778291076 CA8543014 |
1337 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385793528 CA399350768 |
1340 | D>N | No |
ClinGen TOPMed |
|
|
CA290525568 rs1048245925 |
1341 | E>K | No |
ClinGen Ensembl |
|
|
CA399350727 rs1166248702 |
1342 | K>N | No |
ClinGen gnomAD |
|
|
CA399350716 rs1475152527 |
1343 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 1343 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1402628611 CA399350725 |
1343 | T>P | No |
ClinGen TOPMed |
|
|
CA399350712 rs1191124389 |
1344 | D>N | No |
ClinGen gnomAD |
|
|
rs1443147068 CA399350686 |
1346 | E>G | No |
ClinGen gnomAD |
|
|
CA399350663 rs1169094717 |
1348 | F>V | No |
ClinGen Ensembl |
|
|
CA399350628 rs1242933083 |
1350 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs867035704 CA290525566 |
1350 | P>S | No |
ClinGen Ensembl |
|
|
CA8543011 rs765583738 |
1352 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA399350584 rs1364892498 |
1354 | S>T | No |
ClinGen TOPMed |
|
|
rs1453908976 CA399350576 |
1355 | P>T | No |
ClinGen TOPMed |
|
|
rs755323643 CA8542990 |
1367 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8542989 rs754041683 |
1367 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs577551293 CA8542987 |
1369 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399350295 rs1441765035 |
1373 | K>R | No |
ClinGen gnomAD |
|
|
CA290525540 rs750593637 |
1374 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750593637 CA8542986 |
1374 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8542983 rs375032248 |
1376 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8542982 rs375032248 |
1376 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1388265863 CA399350239 |
1377 | S>L | No |
ClinGen TOPMed |
|
|
rs571119266 CA8542969 |
1378 | D>E | No |
ClinGen 1000Genomes ExAC |
|
|
rs781442005 CA8542968 |
1379 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs550019525 CA290525492 |
1379 | L>V | No |
ClinGen 1000Genomes |
|
|
CA8542967 rs757369719 |
1383 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1436648246 CA399350112 |
1384 | V>I | No |
ClinGen TOPMed |
|
|
rs34300454 VAR_052594 CA8542965 |
1386 | G>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs759377856 CA8542963 |
1389 | P>Q | No |
ClinGen ExAC |
|
|
rs375189858 CA8542964 |
1389 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 1391 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8542961 rs766022664 |
1391 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA399350009 rs1484866214 |
1393 | S>G | No |
ClinGen gnomAD |
|
|
rs760334897 CA8542960 |
1396 | A>G | No |
ClinGen ExAC |
|
|
CA399349960 rs1241264683 |
1397 | T>A | No |
ClinGen gnomAD |
|
|
CA8542958 rs771604352 |
1398 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs769268057 CA8542955 |
1409 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs1311607691 CA399349820 |
1409 | V>F | No |
ClinGen gnomAD |
|
|
rs1221384744 CA399349811 |
1410 | P>A | No |
ClinGen gnomAD |
|
|
CA399349795 rs1447149111 |
1411 | K>R | No |
ClinGen Ensembl |
|
|
CA8542954 rs749686674 |
1416 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA8542953 rs775934055 |
1418 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399349704 rs1344078096 |
1418 | K>T | No |
ClinGen TOPMed |
|
|
rs770232383 CA8542952 |
1419 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8542951 rs180671657 |
1419 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8542950 rs781603804 |
1420 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA399349676 rs1468982771 |
1421 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8542949 rs757529574 |
1422 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399349171 rs1170823026 |
1423 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1043064286 CA290525267 |
1426 | S>A | No |
ClinGen TOPMed |
|
|
CA399349147 rs1598606373 |
1427 | T>P | No |
ClinGen Ensembl |
|
|
CA8542931 rs771346220 |
1428 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA290525265 rs770391422 |
1429 | T>A | No |
ClinGen gnomAD |
|
|
rs747134484 CA8542930 |
1429 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA399349127 rs1314425701 |
1430 | T>I | No |
ClinGen gnomAD |
|
|
rs780010148 CA8542926 |
1431 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8542928 rs758362026 |
1431 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8542927 rs780010148 |
1431 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756026961 CA8542925 |
1435 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs758129598 | 1435 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399349087 rs1374914927 |
1437 | A>S | No |
ClinGen TOPMed |
|
|
CA8542923 rs750280340 |
1439 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs200144448 CA8542921 |
1440 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290525255 rs868547366 |
1441 | T>I | No |
ClinGen Ensembl |
|
|
CA8542919 rs763688595 |
1443 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs762408455 CA8542918 |
1446 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1449 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775042257 CA8542917 |
1451 | V>D | No |
ClinGen ExAC TOPMed |
|
|
rs189054152 CA8542916 |
1452 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399348971 rs1275769854 |
1455 | P>L | No |
ClinGen TOPMed |
|
|
rs556664581 CA8542912 |
1459 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8542911 rs773267852 |
1462 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs772308714 CA8542910 |
1463 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748228210 CA8542909 |
1463 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772308714 CA399348920 |
1463 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769793579 CA8542907 |
1464 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8542906 rs745742898 |
1464 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290525245 rs923356968 |
1468 | P>T | No |
ClinGen Ensembl |
|
|
rs934528221 CA290525243 |
1471 | S>A | No |
ClinGen Ensembl |
|
|
rs1804539 CA290525242 |
1471 | S>F | No |
ClinGen Ensembl |
|
|
rs1387296774 CA399348854 |
1473 | D>E | No |
ClinGen gnomAD |
|
|
CA290525240 rs565731951 |
1474 | S>Y | No |
ClinGen TOPMed |
|
|
CA399348841 rs375119375 |
1475 | D>E | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 1475 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399348845 rs1394328357 |
1475 | D>Y | No |
ClinGen TOPMed |
|
|
CA399348808 rs1392558752 |
1480 | K>E | No |
ClinGen gnomAD |
|
|
CA290525238 rs924458277 |
1481 | I>M | No |
ClinGen TOPMed |
|
|
rs369116933 CA8542903 |
1481 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8542902 rs777338287 COSM978871 |
1483 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA399348777 rs1351969590 |
1485 | A>T | No |
ClinGen TOPMed |
|
|
rs555324915 CA8542900 |
1486 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8542899 rs534100273 |
1487 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8542898 rs760133627 |
1488 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290525183 rs1047406616 |
1490 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA399348722 rs1277526598 |
1491 | S>F | No |
ClinGen gnomAD |
|
|
CA290525181 rs978635075 |
1492 | K>R | No |
ClinGen TOPMed |
|
|
CA399348718 rs978635075 |
1492 | K>T | No |
ClinGen TOPMed |
|
|
CA399348711 rs1346580849 |
1493 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs947190282 CA290525180 |
1493 | G>W | No |
ClinGen Ensembl |
|
|
rs1240839473 CA399348709 |
1494 | E>K | No |
ClinGen TOPMed |
|
|
rs1240839473 CA399348708 |
1494 | E>Q | No |
ClinGen TOPMed |
|
|
rs201054615 CA8542881 |
1494 | E>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399348701 rs1227580068 |
1495 | S>G | No |
ClinGen gnomAD |
|
|
rs1349820127 CA399348697 |
1495 | S>T | No |
ClinGen TOPMed |
|
|
rs375995857 CA8542879 |
1496 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754498405 CA8542880 |
1496 | D>H | No |
ClinGen ExAC |
|
|
rs1299570411 CA399348688 |
1497 | D>N | No |
ClinGen gnomAD |
|
|
rs111733098 CA290525176 |
1499 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA399348668 rs1187494677 |
1499 | H>Q | No |
ClinGen TOPMed |
|
|
rs959735528 CA290525173 |
1499 | H>R | No |
ClinGen Ensembl |
|
|
rs111733098 CA290525175 |
1499 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA399348664 rs1333810798 |
1500 | M>K | No |
ClinGen gnomAD |
|
|
CA8542878 rs766846214 |
1500 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778744159 CA290525171 |
1501 | D>H | No |
ClinGen gnomAD |
|
|
rs778744159 CA399348659 |
1501 | D>N | No |
ClinGen gnomAD |
|
|
CA8542875 rs767915206 |
1503 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs750823979 CA8542876 |
1503 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA8542877 rs750823979 |
1503 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs972248234 CA290525168 |
1505 | A>T | No |
ClinGen Ensembl |
|
|
rs761993788 CA8542874 |
1506 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1472043534 CA399348617 |
1508 | P>S | No |
ClinGen gnomAD |
|
|
CA8542871 rs560441128 COSM1382965 |
1509 | R>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA399348609 rs560441128 |
1509 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs560441128 CA8542872 |
1509 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1432101383 CA399348610 |
1509 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA290525164 rs866510555 |
1510 | A>T | No |
ClinGen Ensembl |
|
|
CA8542869 rs370574626 |
1511 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8542868 rs770779298 |
1512 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA399348590 rs746962457 |
1513 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA8542867 rs746962457 |
1513 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs544998359 CA8542865 |
1514 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs544998359 CA290525160 |
1514 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8542864 rs544998359 |
1514 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375623549 CA8542866 |
1514 | R>W | No |
ClinGen ExAC gnomAD |
|
|
VAR_052595 rs11540720 CA8542863 |
1515 | A>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1021428865 CA290525157 |
1519 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8542862 rs754626880 |
1519 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399348557 rs1021428865 |
1519 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs997760271 CA290525155 |
1524 | E>V | No |
ClinGen Ensembl |
|
|
CA8542861 rs748817557 |
1525 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA399348512 rs1598606014 |
1526 | D>N | No |
ClinGen Ensembl |
|
|
CA8542859 rs756643129 |
1528 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA8542860 rs779546795 |
1528 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA290525151 rs901867454 |
1530 | L>M | No |
ClinGen Ensembl |
No associated diseases with P11388
5 regional properties for P11388
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | TolB, N-terminal | 24 - 121 | IPR007195 |
| repeat | WD40-like beta propeller | 199 - 223 | IPR011659-1 |
| repeat | WD40-like beta propeller | 237 - 272 | IPR011659-2 |
| repeat | WD40-like beta propeller | 281 - 315 | IPR011659-3 |
| repeat | WD40-like beta propeller | 369 - 396 | IPR011659-4 |
Functions
| Description | ||
|---|---|---|
| EC Number | 5.6.2.2 | Enzymes altering nucleic acid conformation |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromosome, centromeric region | The region of a chromosome that includes the centromeric DNA and associated proteins. In monocentric chromosomes, this region corresponds to a single area of the chromosome, whereas in holocentric chromosomes, it is evenly distributed along the chromosome. |
| condensed chromosome | A highly compacted molecule of DNA and associated proteins resulting in a cytologically distinct structure. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) complex | Complex that possesses DNA topoisomerase II (double strand cut, ATP-hydrolyzing) activity. |
| male germ cell nucleus | The nucleus of a male germ cell, a reproductive cell in males. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| ribonucleoprotein complex | A macromolecular complex that contains both RNA and protein molecules. |
15 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP-dependent activity, acting on DNA | Catalytic activity that acts to modify DNA, driven by ATP hydrolysis. |
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| DNA binding, bending | The activity of binding selectively and non-covalently to and distorting the original structure of DNA, typically a straight helix, into a bend, or increasing the bend if the original structure was intrinsically bent due to its sequence. |
| DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity | Catalysis of a DNA topological transformation by transiently cleaving a pair of complementary DNA strands to form a gate through which a second double-stranded DNA segment is passed, after which the severed strands in the first DNA segment are rejoined, driven by ATP hydrolysis. The enzyme changes the linking number in multiples of 2. |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| histone deacetylase binding | Binding to histone deacetylase. |
| magnesium ion binding | Binding to a magnesium (Mg) ion. |
| protein C-terminus binding | Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| protein kinase C binding | Binding to protein kinase C. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| ubiquitin binding | Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation. |
16 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic chromosome condensation | The compaction of chromatin during apoptosis. |
| cellular response to DNA damage stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| chromosome segregation | The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. In eukaryotes, chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles. |
| DNA ligation | The re-formation of a broken phosphodiester bond in the DNA backbone, carried out by DNA ligase. |
| DNA topological change | The process in which a transformation is induced in the topological structure of a double-stranded DNA helix, resulting in a change in linking number. |
| embryonic cleavage | The first few specialized divisions of an activated animal egg. |
| female meiotic nuclear division | A cell cycle process by which the cell nucleus divides as part of a meiotic cell cycle in the female germline. |
| hematopoietic progenitor cell differentiation | The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells. |
| negative regulation of DNA duplex unwinding | Any process that stops, prevents or reduces the frequency, rate or extent of DNA duplex unwinding. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of single stranded viral RNA replication via double stranded DNA intermediate | Any process that activates or increases the frequency, rate or extent of retroviral genome replication. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of circadian rhythm | Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours. |
| resolution of meiotic recombination intermediates | The cleavage and rejoining of intermediates, such as Holliday junctions, formed during meiotic recombination to produce two intact molecules in which genetic material has been exchanged. |
| rhythmic process | Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism. |
| sister chromatid segregation | The cell cycle process in which sister chromatids are organized and then physically separated and apportioned to two or more sets. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q02880 | TOP2B | DNA topoisomerase 2-beta | Homo sapiens (Human) | PR |
| Q64511 | Top2b | DNA topoisomerase 2-beta | Mus musculus (Mouse) | PR |
| Q01320 | Top2a | DNA topoisomerase 2-alpha | Mus musculus (Mouse) | PR |
| O46374 | TOP2A | DNA topoisomerase 2-alpha | Sus scrofa (Pig) | PR |
| P41516 | Top2a | DNA topoisomerase 2-alpha | Rattus norvegicus (Rat) | PR |
| Q23670 | top-2 | DNA topoisomerase 2 top-2 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEVSPLQPVN | ENMQVNKIKK | NEDAKKRLSV | ERIYQKKTQL | EHILLRPDTY | IGSVELVTQQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MWVYDEDVGI | NYREVTFVPG | LYKIFDEILV | NAADNKQRDP | KMSCIRVTID | PENNLISIWN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NGKGIPVVEH | KVEKMYVPAL | IFGQLLTSSN | YDDDEKKVTG | GRNGYGAKLC | NIFSTKFTVE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TASREYKKMF | KQTWMDNMGR | AGEMELKPFN | GEDYTCITFQ | PDLSKFKMQS | LDKDIVALMV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RRAYDIAGST | KDVKVFLNGN | KLPVKGFRSY | VDMYLKDKLD | ETGNSLKVIH | EQVNHRWEVC |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LTMSEKGFQQ | ISFVNSIATS | KGGRHVDYVA | DQIVTKLVDV | VKKKNKGGVA | VKAHQVKNHM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| WIFVNALIEN | PTFDSQTKEN | MTLQPKSFGS | TCQLSEKFIK | AAIGCGIVES | ILNWVKFKAQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VQLNKKCSAV | KHNRIKGIPK | LDDANDAGGR | NSTECTLILT | EGDSAKTLAV | SGLGVVGRDK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YGVFPLRGKI | LNVREASHKQ | IMENAEINNI | IKIVGLQYKK | NYEDEDSLKT | LRYGKIMIMT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DQDQDGSHIK | GLLINFIHHN | WPSLLRHRFL | EEFITPIVKV | SKNKQEMAFY | SLPEFEEWKS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| STPNHKKWKV | KYYKGLGTST | SKEAKEYFAD | MKRHRIQFKY | SGPEDDAAIS | LAFSKKQIDD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RKEWLTNFME | DRRQRKLLGL | PEDYLYGQTT | TYLTYNDFIN | KELILFSNSD | NERSIPSMVD |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GLKPGQRKVL | FTCFKRNDKR | EVKVAQLAGS | VAEMSSYHHG | EMSLMMTIIN | LAQNFVGSNN |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LNLLQPIGQF | GTRLHGGKDS | ASPRYIFTML | SSLARLLFPP | KDDHTLKFLY | DDNQRVEPEW |
| 850 | 860 | 870 | 880 | 890 | 900 |
| YIPIIPMVLI | NGAEGIGTGW | SCKIPNFDVR | EIVNNIRRLM | DGEEPLPMLP | SYKNFKGTIE |
| 910 | 920 | 930 | 940 | 950 | 960 |
| ELAPNQYVIS | GEVAILNSTT | IEISELPVRT | WTQTYKEQVL | EPMLNGTEKT | PPLITDYREY |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| HTDTTVKFVV | KMTEEKLAEA | ERVGLHKVFK | LQTSLTCNSM | VLFDHVGCLK | KYDTVLDILR |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| DFFELRLKYY | GLRKEWLLGM | LGAESAKLNN | QARFILEKID | GKIIIENKPK | KELIKVLIQR |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| GYDSDPVKAW | KEAQQKVPDE | EENEESDNEK | ETEKSDSVTD | SGPTFNYLLD | MPLWYLTKEK |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| KDELCRLRNE | KEQELDTLKR | KSPSDLWKED | LATFIEELEA | VEAKEKQDEQ | VGLPGKGGKA |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| KGKKTQMAEV | LPSPRGQRVI | PRITIEMKAE | AEKKNKKKIK | NENTEGSPQE | DGVELEGLKQ |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| RLEKKQKREP | GTKTKKQTTL | AFKPIKKGKK | RNPWSDSESD | RSSDESNFDV | PPRETEPRRA |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| ATKTKFTMDL | DSDEDFSDFD | EKTDDEDFVP | SDASPPKTKT | SPKLSNKELK | PQKSVVSDLE |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| ADDVKGSVPL | SSSPPATHFP | DETEITNPVP | KKNVTVKKTA | AKSQSSTSTT | GAKKRAAPKG |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| TKRDPALNSG | VSQKPDPAKT | KNRRKRKPST | SDDSDSNFEK | IVSKAVTSKK | SKGESDDFHM |
| 1510 | 1520 | 1530 | |||
| DFDSAVAPRA | KSVRAKKPIK | YLEESDEDDL | F |