Q9UL54
Gene name |
TAOK2 (KIAA0881, MAP3K17, PSK, PSK1) |
Protein name |
Serine/threonine-protein kinase TAO2 |
Names |
Kinase from chicken homolog C, hKFC-C, Prostate-derived sterile 20-like kinase 1, PSK-1, PSK1, Prostate-derived STE20-like kinase 1, Thousand and one amino acid protein kinase 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9344 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
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
168-187 (Activation loop from InterPro)
Target domain |
28-281 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
1 structures for Q9UL54
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UL54-F1 | Predicted | AlphaFoldDB |
890 variants for Q9UL54
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000953357 RCV002298806 rs368747234 |
392 | E>missing | Hepatocellular carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1256997964 CA395469480 |
4 | G>R | No |
ClinGen TOPMed |
|
|
rs755199294 CA7997692 |
5 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA395469490 rs1242272222 |
6 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA7997693 rs146116179 |
6 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7997695 rs755972701 |
8 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354458295 CA395469507 |
9 | S>I | No |
ClinGen TOPMed |
|
|
rs748733191 CA7997697 |
9 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1432429783 CA395469537 |
13 | P>L | No |
ClinGen TOPMed |
|
|
rs1432429783 CA395469536 |
13 | P>R | No |
ClinGen TOPMed |
|
|
rs1347355481 CA395469538 |
14 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 15 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 19 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7997701 rs771869853 |
21 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA395469631 rs762280762 |
26 | K>N | No |
ClinGen ExAC TOPMed |
|
|
rs777116231 CA7997702 |
26 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7997704 rs765662810 |
27 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA395469653 rs1596595527 |
30 | D>A | No |
ClinGen Ensembl |
|
|
CA7997707 rs766380067 |
30 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395469665 rs1376172296 |
32 | R>Q | No |
ClinGen gnomAD |
|
|
CA7997708 rs751670508 |
32 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755146133 CA280430378 |
33 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs755146133 CA7997709 |
33 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs767764424 CA7997710 |
36 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1206406398 CA395469728 |
42 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1306051542 CA395469775 |
47 | D>N | No |
ClinGen TOPMed |
|
|
rs1005177502 CA280430605 |
48 | V>I | No |
ClinGen Ensembl |
|
|
rs752906788 CA7997729 |
49 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA395469801 rs1272747555 |
49 | R>W | No |
ClinGen gnomAD |
|
|
rs763906149 CA7997731 |
50 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA395469812 rs1596596040 |
50 | N>Y | No |
ClinGen Ensembl |
|
|
CA7997734 rs779036453 |
66 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs966469217 CA280430638 |
67 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7997749 rs764269417 |
72 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7997750 rs753635436 |
77 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs761769256 CA7997751 |
78 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 78 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1374212447 CA395470216 |
78 | R>W | No |
ClinGen TOPMed |
|
|
CA7997752 rs765255700 |
81 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs750331994 CA7997753 |
82 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA7997755 rs150712108 |
84 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA395470419 rs1313275626 |
88 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 92 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs865791050 CA280430875 |
92 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7997757 rs754637836 |
92 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7997760 rs757559465 |
97 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1201123116 CA395470591 |
100 | T>R | No |
ClinGen gnomAD |
|
|
CA395470859 rs1283979500 |
109 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA395471807 rs1390324284 |
123 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 124 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7997802 rs781376740 |
131 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA395471879 rs1436970368 |
134 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 140 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395471960 rs774229445 |
146 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7997808 rs774229445 |
146 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437221463 CA395472048 |
156 | N>K | No |
ClinGen TOPMed |
|
|
rs1349545690 CA395472056 |
157 | I>M | No |
ClinGen TOPMed |
|
|
CA280431467 rs919570391 |
165 | V>A | No |
ClinGen Ensembl |
|
|
rs939417987 CA280431477 |
175 | I>N | No |
ClinGen TOPMed |
|
|
rs768089730 CA7997831 |
175 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1181246589 CA395472172 |
176 | M>K | No |
ClinGen gnomAD |
|
|
CA7997832 rs776236834 |
177 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1473460766 CA395472185 |
178 | P>S | No |
ClinGen gnomAD |
|
|
rs140117945 CA7997833 |
180 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM969704 COSM969705 CA7997857 rs767951266 |
192 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1596598662 CA395472338 |
193 | V>G | No |
ClinGen Ensembl |
|
|
rs1377682145 CA395472446 |
203 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7997861 rs753857036 |
206 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs375334553 CA7997863 |
208 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1247516476 CA395472664 |
215 | C>Y | No |
ClinGen gnomAD |
|
|
rs1189534622 CA395472700 COSM969707 COSM969708 |
217 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA7997908 rs756769478 |
221 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7997907 rs753383907 |
221 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs778568429 CA7997909 |
222 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA395473784 rs1460827015 |
222 | K>T | No |
ClinGen gnomAD |
|
|
rs865824525 CA280433365 |
224 | P>S | No |
ClinGen Ensembl |
|
|
rs745492252 CA7997910 |
225 | L>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 228 | M>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7997912 rs781600192 COSM170218 |
230 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs773769604 CA7997915 |
235 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA395474119 rs1306743411 |
241 | E>D | No |
ClinGen Ensembl |
|
|
rs143934788 CA7997917 |
243 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1313958114 CA395474152 |
244 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA395474210 rs1204412027 |
247 | S>P | No |
ClinGen TOPMed |
|
|
CA395474227 rs1234073466 |
248 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7997920 rs767669894 |
249 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs778066032 CA7997951 COSM184905 |
255 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1168058728 CA395474499 |
258 | V>I | No |
ClinGen gnomAD |
|
|
rs142801026 CA7997954 |
259 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA395474515 rs1458583458 |
259 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7997956 rs373914698 |
260 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373914698 CA7997955 |
260 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA280433645 rs200074622 |
263 | Q>E | No |
ClinGen Ensembl |
|
|
CA395474641 rs1158759155 |
265 | I>F | No |
ClinGen TOPMed |
|
| TCGA novel | 267 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395474677 rs1298907781 |
267 | Q>R | No |
ClinGen gnomAD |
|
|
rs1167389928 CA395474694 |
268 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA280433680 rs970485759 |
271 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 271 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA280433692 rs151026108 |
274 | V>A | No |
ClinGen ESP TOPMed |
|
|
CA395474768 rs1188512114 |
274 | V>I | No |
ClinGen TOPMed |
|
|
rs1480951180 CA395474969 |
278 | H>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 278 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754043273 CA7997976 |
279 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM393101 rs747127087 COSM393100 CA7997977 |
279 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA280434389 rs903892697 |
281 | V>L | No |
ClinGen Ensembl |
|
|
rs1000878010 CA280434397 |
283 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA7997978 rs141012429 |
283 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA395475078 rs1473676019 |
285 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA280434431 rs569219357 |
285 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA395475097 rs1273714728 |
287 | P>T | No |
ClinGen TOPMed |
|
|
CA7997980 rs748396259 |
288 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs149797802 CA395475140 |
290 | I>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs149797802 CA280434440 |
290 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA395475277 rs1316246258 |
297 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 298 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395475294 rs1414787531 |
299 | D>N | No |
ClinGen gnomAD |
|
|
rs1414787531 CA395475296 |
299 | D>Y | No |
ClinGen gnomAD |
|
|
CA7997984 rs770953476 |
301 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs773843358 CA7997985 |
303 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs773124521 CA280434462 |
310 | R>C | No |
ClinGen gnomAD |
|
|
rs773124521 CA395475456 |
310 | R>G | No |
ClinGen gnomAD |
|
|
CA395475469 rs1567242800 |
310 | R>L | No |
ClinGen Ensembl |
|
|
rs760462943 CA280434463 |
314 | K>T | No |
ClinGen Ensembl |
|
|
CA395475590 rs898929706 |
317 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA395475683 rs575152450 |
323 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7997987 rs575152450 |
323 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7997988 rs752276045 |
324 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA395475700 rs1273066702 |
324 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1483933331 CA395475720 |
325 | G>A | No |
ClinGen gnomAD |
|
|
rs1013425351 CA280434505 |
327 | E>K | No |
ClinGen gnomAD |
|
|
CA395475799 rs1288155236 |
330 | E>A | No |
ClinGen gnomAD |
|
|
rs1232539311 CA395475847 |
333 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 334 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745755045 CA7998022 |
335 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7998023 rs772044091 |
335 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7998025 rs368342001 |
337 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368342001 CA280394534 |
337 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1451485192 CA395479153 |
338 | Y>C | No |
ClinGen TOPMed |
|
|
CA7998027 rs776291776 |
339 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA7998026 rs371958190 |
339 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7998028 rs761378241 |
340 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs892541929 CA395479205 |
341 | R>G | No |
ClinGen gnomAD |
|
|
CA7998029 rs766814244 |
341 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280394553 rs892541929 |
341 | R>W | No |
ClinGen gnomAD |
|
|
CA395479313 rs1567243363 |
346 | T>S | No |
ClinGen Ensembl |
|
|
rs1596606311 CA395479321 |
347 | S>G | No |
ClinGen Ensembl |
|
|
COSM3937031 rs760747000 COSM3937029 CA7998034 COSM3937030 |
349 | E>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA395479388 rs1257308058 |
350 | S>I | No |
ClinGen gnomAD |
|
|
CA395479426 rs1423285576 |
352 | H>P | No |
ClinGen TOPMed |
|
|
rs764083096 CA7998035 |
352 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453862462 CA395479482 |
354 | V>G | No |
ClinGen gnomAD |
|
|
rs754049338 CA7998036 |
354 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222639960 CA395479575 |
357 | M>V | No |
ClinGen gnomAD |
|
|
CA280394632 rs1018529386 |
359 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA395479699 rs778654857 |
361 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7998038 rs778654857 |
361 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395479791 rs1354636051 |
364 | Q>H | No |
ClinGen gnomAD |
|
|
CA7998039 rs145917075 |
364 | Q>R | No |
ClinGen ESP ExAC |
|
|
rs1313504648 CA395479806 |
365 | S>G | No |
ClinGen gnomAD |
|
|
CA280394650 rs372509673 |
365 | S>R | No |
ClinGen TOPMed |
|
|
CA7998042 rs375972588 |
368 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1259110093 CA395480093 |
372 | A>V | No |
ClinGen gnomAD |
|
|
rs1214795018 CA395480169 |
374 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 375 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769621464 CA7998046 |
377 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760049440 CA7998049 |
378 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs913318459 CA280394721 |
380 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1252488322 CA395480492 |
385 | E>K | No |
ClinGen TOPMed |
|
|
rs1204795871 CA395480509 |
386 | E>K | No |
ClinGen TOPMed |
|
|
CA395480557 rs1240523500 |
388 | E>K | No |
ClinGen gnomAD |
|
|
rs751116068 RCV001323067 |
388 | E>missing | No |
ClinVar dbSNP |
|
|
rs1217237664 CA395480592 |
389 | E>D | No |
ClinGen TOPMed |
|
|
rs772575258 CA7998061 |
389 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1419361953 CA395480607 |
390 | E>V | No |
ClinGen gnomAD |
|
|
rs761114744 CA7998063 |
391 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1386636274 CA395480657 |
392 | E>D | No |
ClinGen TOPMed |
|
|
CA395480649 rs1302665844 |
392 | E>G | No |
ClinGen TOPMed |
|
|
rs753912286 CA7998065 |
393 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA395480691 rs1432632673 |
395 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1596606875 TCGA novel CA395480723 |
396 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA395480729 rs1462713646 |
397 | R>G | No |
ClinGen TOPMed |
|
|
CA395480735 rs376173807 |
397 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7998068 rs376173807 |
397 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1462713646 CA395480728 |
397 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs758131864 CA7998069 |
399 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280394828 rs927256643 |
399 | M>V | No |
ClinGen TOPMed |
|
|
CA395480791 rs1304933585 |
400 | A>V | No |
ClinGen gnomAD |
|
|
rs35174880 CA7998070 |
401 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280394852 rs377201939 |
402 | M>L | No |
ClinGen gnomAD |
|
|
rs1303323663 CA395480829 |
402 | M>R | No |
ClinGen gnomAD |
|
|
CA7998071 rs143466363 |
404 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1207720949 CA395480887 |
405 | G>R | No |
ClinGen gnomAD |
|
|
rs1480735123 CA395480937 |
407 | H>R | No |
ClinGen gnomAD |
|
|
CA395480951 rs1247745806 |
408 | T>A | No |
ClinGen gnomAD |
|
|
rs1455217182 CA395480967 |
409 | V>I | No |
ClinGen gnomAD |
|
|
rs1394416165 CA395480996 |
410 | T>N | No |
ClinGen gnomAD |
|
|
CA395480989 rs1596607039 |
410 | T>P | No |
ClinGen Ensembl |
|
|
rs1172229796 CA395481054 |
413 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 414 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7998075 rs769569940 |
414 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA7998076 rs777506344 |
415 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395481143 rs1296704379 |
416 | I>M | No |
ClinGen gnomAD |
|
|
rs78058418 CA280394912 |
416 | I>T | No |
ClinGen Ensembl |
|
|
CA395481162 rs1596607097 |
417 | H>P | No |
ClinGen Ensembl |
|
|
CA7998078 rs772522310 |
418 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs182132470 CA7998077 |
418 | R>W | Variant assessed as Somatic; 7.945e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA395481191 rs1450138786 |
419 | L>R | No |
ClinGen gnomAD |
|
|
rs775736451 CA7998079 |
420 | P>L | No |
ClinGen ExAC gnomAD |
|
| rs1321003401 | 421 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7998101 rs769323834 |
423 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395481421 rs769323834 |
423 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395481544 rs1473954894 |
426 | Y>C | No |
ClinGen Ensembl |
|
| TCGA novel | 427 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395481613 rs1596607760 |
428 | D>A | No |
ClinGen Ensembl |
|
|
CA7998105 rs763141970 |
428 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA395481642 rs1452310830 |
429 | P>L | No |
ClinGen gnomAD |
|
|
rs1248475476 CA395481675 |
431 | Q>E | No |
ClinGen TOPMed |
|
|
CA395481699 rs1315154656 |
432 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1315154656 CA395481702 |
432 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1414977223 CA395481732 |
433 | E>D | No |
ClinGen gnomAD |
|
|
rs1356529488 CA395481724 |
433 | E>G | No |
ClinGen gnomAD |
|
|
rs774195295 CA7998106 |
435 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224955381 CA395481797 |
438 | P>R | No |
ClinGen gnomAD |
|
|
rs1386865466 CA395481799 |
439 | L>I | No |
ClinGen TOPMed |
|
|
CA395481811 rs1418957987 |
440 | Q>H | No |
ClinGen TOPMed |
|
|
CA7998110 rs371609102 |
441 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7998112 rs753436930 |
442 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA395481828 rs1444677867 |
443 | A>V | No |
ClinGen TOPMed |
|
|
rs756928555 CA7998113 |
444 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs150531888 CA7998114 |
444 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1184947871 CA395481843 |
446 | A>G | No |
ClinGen TOPMed |
|
|
CA395481848 rs1255686667 |
447 | P>R | No |
ClinGen gnomAD |
|
|
rs1441119514 CA395481861 |
449 | S>C | No |
ClinGen TOPMed |
|
|
CA280395304 rs138564043 |
450 | T>A | No |
ClinGen ESP gnomAD |
|
|
CA7998117 rs781569715 |
450 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA7998118 rs748606036 |
451 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs748606036 CA7998119 |
451 | T>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 453 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA280395360 rs993846350 |
454 | A>P | No |
ClinGen Ensembl |
|
|
CA7998121 rs535835029 |
454 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7998122 rs771174306 |
455 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7998123 rs774381953 |
455 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237813627 CA395481893 |
456 | R>C | No |
ClinGen gnomAD |
|
|
CA7998125 rs771711319 |
456 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395481900 rs1348255219 |
457 | R>L | No |
ClinGen gnomAD |
|
|
rs1348255219 CA395481898 |
457 | R>Q | No |
ClinGen gnomAD |
|
|
CA395481906 rs1209871229 |
458 | A>V | No |
ClinGen gnomAD |
|
|
rs74981424 CA7998126 |
459 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA395481918 rs1439755593 |
460 | C>S | No |
ClinGen gnomAD |
|
|
rs1025967617 CA280395416 |
461 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7998127 rs146348272 |
461 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA280395442 rs900260278 |
462 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 463 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139763660 CA395481936 |
463 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7998128 rs139763660 |
463 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA280395475 rs1008626163 |
465 | H>P | No |
ClinGen Ensembl |
|
|
CA395481946 rs1396200475 |
465 | H>Y | No |
ClinGen gnomAD |
|
|
rs1172133483 CA395481965 |
467 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1411245776 CA395481979 |
470 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1329159589 CA395481981 |
470 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1443952323 CA395481995 |
472 | A>V | No |
ClinGen gnomAD |
|
|
rs758092587 CA7998133 |
473 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA7998150 rs761841772 |
476 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA395484972 COSM969714 COSM969713 rs1278518808 |
477 | R>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs974541828 CA280396962 |
484 | Q>E | No |
ClinGen Ensembl |
|
|
CA7998151 rs764604543 |
484 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762484136 CA7998153 |
486 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA395485099 rs1460731028 |
486 | S>Y | No |
ClinGen TOPMed |
|
|
rs1286967853 CA395485119 |
487 | A>E | No |
ClinGen gnomAD |
|
|
CA395485142 rs1192915734 |
489 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA395485140 COSM233542 rs1192915734 |
489 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1189667865 CA395485206 |
494 | G>D | No |
ClinGen gnomAD |
|
|
CA7998158 rs754246307 |
497 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1460478609 CA395485244 |
497 | R>W | No |
ClinGen gnomAD |
|
|
CA395485272 rs1401260670 |
499 | R>Q | No |
ClinGen gnomAD |
|
|
rs778824846 CA7998160 |
500 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA395485288 rs1338177122 |
501 | Q>K | No |
ClinGen gnomAD |
|
|
CA7998161 rs200883075 |
508 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7998163 rs772408260 |
512 | R>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1377295 COSM1377296 CA7998162 rs772408260 |
512 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA395485427 rs1246992068 |
512 | R>W | No |
ClinGen TOPMed |
|
|
rs747237611 CA7998164 |
514 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486860798 CA395485479 |
517 | R>G | No |
ClinGen gnomAD |
|
|
CA7998165 rs768531269 |
517 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395485481 COSM241844 rs1486860798 |
517 | R>W | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA7998167 rs748013785 |
522 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs772595318 CA7998169 |
523 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7998168 rs769811063 |
523 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142369950 CA7998171 |
526 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA280397195 rs376299348 |
526 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs773930903 CA7998172 |
528 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA395485614 rs1313318145 |
529 | E>* | No |
ClinGen gnomAD |
|
|
rs759204508 CA7998173 |
530 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs991166338 CA280397211 |
531 | Q>H | No |
ClinGen TOPMed |
|
|
CA395485642 rs1474933883 |
531 | Q>R | No |
ClinGen gnomAD |
|
|
CA280397212 rs747450511 |
532 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs373048486 CA7998175 |
532 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757697666 CA7998176 |
533 | A>G | No |
ClinGen ExAC |
|
|
CA395485698 rs1238878095 |
534 | G>D | No |
ClinGen gnomAD |
|
|
rs1238878095 CA395485703 |
534 | G>V | No |
ClinGen gnomAD |
|
|
CA7998177 rs765828326 |
535 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750905955 CA7998178 |
536 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA395485754 rs1235475784 COSM969720 COSM969719 |
537 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA395485777 rs1434403377 |
538 | E>Q | No |
ClinGen TOPMed |
|
|
rs564533648 CA7998179 |
539 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA280397252 rs916776801 |
543 | A>S | No |
ClinGen gnomAD |
|
|
CA395485916 rs916776801 |
543 | A>T | No |
ClinGen gnomAD |
|
|
CA395485939 rs1198397765 |
543 | A>V | No |
ClinGen gnomAD |
|
|
CA280397266 rs771339219 |
544 | R>Q | No |
ClinGen gnomAD |
|
|
rs780311914 CA7998180 |
544 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1377297 CA7998182 rs755300621 COSM1377298 |
545 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs748043490 CA7998184 |
547 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA395486087 rs1239589256 |
548 | A>V | No |
ClinGen TOPMed |
|
|
CA7998185 rs769608292 |
549 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7998187 rs773147120 |
550 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs773147120 CA7998186 |
550 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1397232670 CA395486206 |
552 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 552 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7998189 rs773896207 |
554 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7998190 rs759153586 |
555 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs776843842 CA7998192 |
560 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1314042631 CA395486457 |
561 | E>G | No |
ClinGen TOPMed |
|
|
CA395486447 rs1230526351 |
561 | E>K | No |
ClinGen gnomAD |
|
|
CA395486475 rs1339726468 |
562 | R>Q | No |
ClinGen gnomAD |
|
|
CA7998193 rs371473286 |
562 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA395486584 rs1235870063 |
565 | Q>* | No |
ClinGen gnomAD |
|
|
rs750894918 CA395486646 |
567 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA7998195 rs750894918 |
567 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs759005614 CA7998196 |
568 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 569 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751737195 CA7998198 |
573 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7998199 rs755236889 |
574 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1311721853 CA395486873 |
574 | K>N | No |
ClinGen TOPMed |
|
|
CA280397409 rs1049338916 |
576 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1465339344 CA395486956 |
578 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA395486979 rs1396815414 |
580 | L>V | No |
ClinGen gnomAD |
|
|
CA7998203 rs777448049 |
582 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA280397451 rs886400996 |
585 | R>W | No |
ClinGen TOPMed |
|
| TCGA novel | 586 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7998204 rs373817628 |
588 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs770907647 CA7998205 |
590 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770907647 CA395487171 |
590 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778384842 CA7998206 |
593 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA395487265 rs1567246698 |
595 | K>R | No |
ClinGen Ensembl |
|
|
rs779463362 CA7998226 |
598 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA395487371 rs1567246884 |
598 | L>H | No |
ClinGen Ensembl |
|
|
rs1214657654 CA395487378 |
599 | Q>* | No |
ClinGen gnomAD |
|
|
rs1259853271 CA395487383 |
599 | Q>R | No |
ClinGen gnomAD |
|
|
rs1475694204 CA395487435 |
603 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7998228 rs768242398 |
605 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA395487499 rs773698336 |
607 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773698336 CA7998229 |
607 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1421345639 CA395487495 |
607 | R>W | No |
ClinGen gnomAD |
|
|
CA395487542 rs1418267815 |
610 | A>G | No |
ClinGen gnomAD |
|
|
CA7998232 rs774939081 |
611 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA280397632 rs958428636 |
611 | E>K | No |
ClinGen Ensembl |
|
|
CA395487563 rs1596612634 |
612 | W>G | No |
ClinGen Ensembl |
|
|
CA7998233 rs759980483 |
612 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA395487591 rs767589606 |
615 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7998235 rs752773455 |
615 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7998234 rs767589606 |
615 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764370184 CA7998237 |
620 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA395487675 rs1567247125 |
621 | Q>* | No |
ClinGen Ensembl |
|
|
CA395487708 rs1486107610 |
623 | C>F | No |
ClinGen gnomAD |
|
|
rs756991109 CA7998239 |
623 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61737877 CA7998240 |
625 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7998242 rs758308556 |
626 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs866396115 CA280397693 |
628 | E>G | No |
ClinGen Ensembl |
|
|
rs1175895944 CA395487768 |
629 | A>T | No |
ClinGen gnomAD |
|
|
CA7998244 rs746558110 |
629 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs141485756 CA7998246 |
631 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1335235322 CA395487810 |
632 | L>P | No |
ClinGen TOPMed |
|
|
CA7998249 rs774884028 |
633 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771370720 CA7998248 |
633 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 634 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1444531731 CA395487826 |
634 | R>Q | No |
ClinGen gnomAD |
|
|
rs746350821 CA7998250 |
634 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1345489471 CA395487849 |
636 | R>C | No |
ClinGen gnomAD |
|
|
CA7998251 rs772517477 |
636 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7998252 rs775639559 |
637 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs760608251 CA7998253 |
637 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA7998254 rs764175840 |
638 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1382401335 CA395487934 |
642 | Q>H | No |
ClinGen TOPMed |
|
|
CA7998255 rs776787473 |
644 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA395487950 rs776787473 |
644 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs762055796 CA7998256 |
644 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs996193871 CA280397776 |
645 | Q>H | No |
ClinGen gnomAD |
|
|
CA280397770 rs901881004 |
645 | Q>P | No |
ClinGen Ensembl |
|
|
rs750234872 CA7998258 |
647 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs758342146 CA7998259 |
648 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758342146 CA395488004 |
648 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs892936316 CA395488005 |
648 | R>H | No |
ClinGen Ensembl |
|
|
CA280397792 rs892936316 |
648 | R>L | No |
ClinGen Ensembl |
|
|
CA395488038 rs1596613064 |
650 | M>I | No |
ClinGen Ensembl |
|
|
rs551868876 CA280397811 |
654 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7998263 rs780869753 |
654 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs551868876 CA7998261 |
654 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7998264 rs747760164 |
656 | S>I | No |
ClinGen ExAC |
|
|
rs1327843933 CA395488174 |
658 | D>E | No |
ClinGen gnomAD |
|
|
rs144910819 CA7998265 |
658 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs779412253 CA7998266 |
659 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 660 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7998267 rs746288522 |
660 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1020575217 CA395488254 |
663 | R>G | No |
ClinGen TOPMed |
|
|
rs772493861 CA7998268 |
663 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA280397842 rs1020575217 |
663 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs777255470 CA280397846 |
664 | E>Q | No |
ClinGen TOPMed |
|
|
rs748293084 CA7998291 |
665 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA395488534 rs773248587 CA7998293 |
667 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs763256431 CA7998294 |
669 | K>Q | No |
ClinGen ExAC |
|
|
rs1216473159 CA395488670 |
675 | L>F | No |
ClinGen TOPMed |
|
|
CA395488688 rs1258578574 |
678 | A>T | No |
ClinGen gnomAD |
|
|
CA395488695 rs1334866099 |
679 | L>V | No |
ClinGen gnomAD |
|
|
rs759519804 CA7998297 |
682 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7998296 COSM1267397 rs774239550 COSM1267396 |
682 | R>W | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA280398362 rs543666690 |
684 | H>D | No |
ClinGen 1000Genomes |
|
|
rs201394687 CA7998299 |
685 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201560518 CA280398370 |
685 | E>G | No |
ClinGen gnomAD |
|
|
CA395488762 rs1396457128 |
685 | E>K | No |
ClinGen TOPMed |
|
|
CA7998300 rs372787552 COSM1267393 COSM1267394 |
687 | T>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA7998303 rs756975773 |
688 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs753394748 CA7998302 |
688 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA395488827 rs1455337379 |
690 | L>V | No |
ClinGen TOPMed |
|
|
CA395488833 rs1253214945 |
691 | E>K | No |
ClinGen TOPMed |
|
|
rs755472068 CA7998306 |
693 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7998305 rs780259481 |
693 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA395488882 rs1468316022 |
694 | Q>R | No |
ClinGen TOPMed |
|
|
rs541201834 CA7998308 |
698 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs541201834 CA7998309 |
698 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1394353002 CA395488956 |
699 | Q>H | No |
ClinGen gnomAD |
|
|
rs777936445 CA7998310 |
700 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs777936445 CA395488962 |
700 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7998311 rs749437354 |
700 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA7998313 rs773999686 |
701 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256207952 CA395488996 |
703 | A>T | No |
ClinGen gnomAD |
|
|
CA7998316 rs55893926 |
703 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1198195420 CA395489064 |
705 | L>P | No |
ClinGen gnomAD |
|
|
rs1458122828 CA395489085 |
706 | T>I | No |
ClinGen gnomAD |
|
|
CA7998317 rs760728409 |
706 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA395489103 rs1236066028 |
707 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs559551824 CA7998319 |
707 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 709 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395489275 rs1173949164 |
711 | Q>H | No |
ClinGen gnomAD |
|
|
rs1406395729 CA395489290 |
712 | T>M | No |
ClinGen gnomAD |
|
|
CA280398465 rs1042209489 |
715 | G>V | No |
ClinGen Ensembl |
|
|
rs767889343 CA7998324 |
721 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 722 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7998325 rs753160957 |
723 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280398500 rs756682464 |
724 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867355297 CA280398505 |
724 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs867355297 CA395489606 |
724 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs756682464 CA7998326 |
724 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143012134 CA7998328 |
726 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143012134 CA7998327 |
726 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7998329 rs757412915 |
727 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA395489703 rs1256067563 |
727 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs779224250 CA280398523 |
729 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA7998331 rs746118559 |
733 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs775467090 CA7998333 |
734 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746899846 CA7998334 |
735 | Q>E | No |
ClinGen ExAC |
|
|
CA395489985 rs1596614914 |
736 | V>G | No |
ClinGen Ensembl |
|
|
CA280398537 rs796285883 |
736 | V>I | No |
ClinGen gnomAD |
|
|
CA395490017 rs1352088641 |
737 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA7998336 rs776001863 |
742 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395490265 rs1596614971 |
745 | V>G | No |
ClinGen Ensembl |
|
|
rs563881487 CA7998338 |
746 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs377399375 CA7998339 |
746 | R>H | No |
ClinGen ESP ExAC |
|
|
rs978611776 CA280398549 |
747 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs762623585 CA7998340 |
750 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs767834118 CA7998342 |
750 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1245457402 CA395490403 |
751 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs753107537 CA7998343 |
752 | P>L | No |
ClinGen ExAC TOPMed |
|
|
CA395490435 rs753107537 |
752 | P>R | No |
ClinGen ExAC TOPMed |
|
|
CA7998346 rs754317954 |
753 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA395490467 rs754317954 |
753 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs141593689 CA7998347 |
754 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395490491 rs1488108144 |
755 | P>A | No |
ClinGen gnomAD |
|
|
CA7998348 rs779167423 |
755 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7998350 rs758744945 |
758 | I>V | No |
ClinGen ExAC TOPMed |
|
|
rs1299265690 CA395490628 |
761 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7998352 rs746888550 |
761 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1177683377 CA395490652 |
763 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7998353 rs768342491 |
764 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7998355 rs748058489 |
765 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs767332536 CA280398640 |
766 | N>S | No |
ClinGen Ensembl |
|
|
rs1180573760 CA395490710 |
766 | N>Y | No |
ClinGen TOPMed |
|
|
CA395490732 rs1319923797 |
767 | T>A | No |
ClinGen gnomAD |
|
|
rs772748056 CA7998357 |
767 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs992122323 CA280398647 |
768 | G>D | No |
ClinGen TOPMed |
|
|
CA7998360 rs199554981 |
769 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7998359 rs199554981 |
769 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761030327 CA395490836 |
775 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs761030327 CA7998361 |
775 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7998362 rs371212254 |
776 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395490846 rs1181418672 |
776 | C>W | No |
ClinGen gnomAD |
|
|
rs754333462 CA7998363 |
777 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA280398704 rs61737884 |
778 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7998365 rs547599281 |
778 | P>L | No |
ClinGen 1000Genomes ExAC |
|
|
RCV000957402 CA7998364 rs61737884 |
778 | P>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA395490884 rs1380101195 |
780 | Q>R | No |
ClinGen gnomAD |
|
|
rs750589804 CA7998366 |
782 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs758689808 CA7998367 |
783 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs780356988 CA7998368 |
784 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs751742851 CA395490989 |
787 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235011512 CA395491007 |
788 | M>I | No |
ClinGen TOPMed |
|
|
rs780878586 CA7998371 |
788 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA7998370 rs754752396 |
788 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA7998372 rs748086166 |
789 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs965191672 CA280398729 |
789 | L>H | No |
ClinGen gnomAD |
|
|
CA7998374 rs777249780 |
790 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs748859380 CA7998377 |
791 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209469922 CA395491057 |
792 | E>K | No |
ClinGen gnomAD |
|
|
CA280398758 rs369242417 |
794 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770429011 CA7998378 |
794 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 800 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA280398783 rs192505565 |
802 | L>Q | No |
ClinGen 1000Genomes TOPMed |
|
|
CA7998382 rs769037390 |
803 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA395491287 rs1426792374 |
805 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1299220336 CA395491299 |
806 | G>R | No |
ClinGen gnomAD |
|
|
CA7998384 rs762396870 |
807 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA395491346 rs765912677 |
808 | T>A | No |
ClinGen ExAC TOPMed |
|
|
CA7998385 rs765912677 RCV001352268 |
808 | T>P | No |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
|
CA7998386 rs750971493 |
809 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs750971493 CA7998387 |
809 | L>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 810 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7998388 rs766586652 |
810 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280398813 rs142024220 |
811 | P>A | No |
ClinGen ESP |
|
|
CA7998390 rs755195552 |
812 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150689389 CA7998391 RCV000899159 |
813 | Q>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7998393 rs558241184 RCV000943535 |
821 | S>L | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs202135474 CA280398848 |
822 | G>R | No |
ClinGen Ensembl |
|
|
rs777617556 CA7998394 |
824 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7998395 rs749234269 |
826 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs74854860 CA280398870 |
831 | H>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs924684117 CA280398872 |
833 | S>I | No |
ClinGen Ensembl |
|
| TCGA novel | 833 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770390468 CA7998396 |
834 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7998398 rs745515041 |
836 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395492201 rs1247676673 |
837 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs771680677 CA7998399 |
838 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs117592185 CA7998400 |
840 | W>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1426513389 CA395492315 |
841 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs748459591 CA7998401 |
842 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs370350268 CA7998402 |
843 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 843 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395492457 rs375935255 |
845 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766451008 CA7998406 |
846 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7998405 rs763583385 |
846 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA395492507 rs1435945558 |
847 | E>K | No |
ClinGen gnomAD |
|
|
CA395492541 rs1301507535 |
848 | E>K | No |
ClinGen gnomAD |
|
|
rs759787568 CA7998408 |
849 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs774342911 CA7998407 |
849 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA395492632 rs1163117187 |
850 | R>K | No |
ClinGen TOPMed |
|
|
rs139952928 CA395492640 |
850 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755844002 CA7998411 |
851 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs752917907 CA395492656 |
851 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7998410 rs752917907 |
851 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7998412 rs763911645 |
852 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763911645 CA280398930 |
852 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA395492695 rs1290949015 |
852 | P>S | No |
ClinGen gnomAD |
|
|
CA7998413 rs149357185 |
854 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395492737 rs1567249451 |
854 | L>V | No |
ClinGen Ensembl |
|
|
rs1215399730 CA395492780 |
856 | P>L | No |
ClinGen TOPMed |
|
|
rs757238729 CA395492862 |
859 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7998414 rs757238729 |
859 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7998416 rs745437107 |
860 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA395492917 rs1422321038 |
861 | I>T | No |
ClinGen gnomAD |
|
|
rs1207933586 CA395493110 |
869 | T>A | No |
ClinGen TOPMed |
|
|
CA7998418 rs537042619 |
869 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770242526 CA7998421 |
873 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7998420 rs770242526 |
873 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395493341 rs1443570802 |
875 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 876 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763865713 CA280399036 |
877 | D>H | No |
ClinGen Ensembl |
|
| TCGA novel | 878 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7998422 rs749790271 |
881 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 882 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1297610371 CA395493540 |
882 | D>V | No |
ClinGen gnomAD |
|
|
CA280399045 rs997918254 |
883 | E>D | No |
ClinGen Ensembl |
|
|
CA395493593 rs1324764918 |
884 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 884 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771398541 CA7998423 |
887 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1430613115 CA395493773 |
889 | W>C | No |
ClinGen gnomAD |
|
|
CA7998425 rs759463491 |
889 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767646576 CA7998426 |
891 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1355347469 CA395493855 |
894 | A>S | No |
ClinGen gnomAD |
|
|
CA395493858 rs1216926728 |
894 | A>V | No |
ClinGen gnomAD |
|
|
CA280399102 rs574261683 |
896 | T>I | No |
ClinGen Ensembl |
|
|
CA7998431 rs145442196 |
898 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7998432 rs573977459 |
899 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750389837 CA7998433 |
900 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs377728634 CA7998435 |
905 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7998436 rs779645307 |
905 | E>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 907 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754726955 CA7998438 |
909 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754726955 CA280399131 |
909 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778268053 COSM3690912 COSM3690911 CA7998439 |
910 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs909457929 RCV001326753 CA280399143 |
911 | I>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA395494313 rs1378116017 |
913 | T>N | No |
ClinGen gnomAD |
|
|
rs1194799603 CA395494333 |
914 | P>S | No |
ClinGen TOPMed |
|
|
rs1339361800 CA395494388 |
916 | D>E | No |
ClinGen TOPMed |
|
|
rs1460907216 CA395494399 |
917 | P>A | No |
ClinGen gnomAD |
|
|
rs1240351892 CA395494447 |
919 | D>Y | No |
ClinGen gnomAD |
|
|
rs749733211 CA7998440 |
922 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749733211 CA280399167 |
922 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348147264 CA395494539 |
923 | S>P | No |
ClinGen gnomAD |
|
|
CA280399187 rs867958493 |
925 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA395494607 rs1460785183 |
926 | I>V | No |
ClinGen gnomAD |
|
|
CA395494682 rs1596616483 |
929 | E>D | No |
ClinGen Ensembl |
|
|
CA280399189 rs969034315 |
930 | P>S | No |
ClinGen TOPMed |
|
|
CA7998442 rs779227926 |
934 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA395496529 rs779227926 |
934 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA395496548 rs1440058731 |
934 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA395496525 rs1596616517 |
934 | H>Y | No |
ClinGen Ensembl |
|
|
rs772017668 CA7998445 |
937 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395496598 rs1362248747 |
937 | P>S | No |
ClinGen gnomAD |
|
|
rs200702514 CA7998446 |
938 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA395496641 rs1468639624 |
939 | P>L | No |
ClinGen gnomAD |
|
|
CA395496634 rs1401625251 |
939 | P>S | No |
ClinGen gnomAD |
|
|
rs370623476 CA7998447 |
940 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395496670 rs1401737575 |
941 | S>R | No |
ClinGen gnomAD |
|
|
CA7998448 rs768936564 |
942 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA395496673 rs1446464907 |
942 | Q>K | No |
ClinGen gnomAD |
|
|
rs1435608823 CA395496706 |
944 | P>T | No |
ClinGen TOPMed |
|
|
CA395496725 rs1234999758 |
945 | G>R | No |
ClinGen gnomAD |
|
|
rs750289878 CA7998455 |
951 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs750289878 CA7998454 |
951 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1248182340 CA395496841 |
951 | L>P | No |
ClinGen gnomAD |
|
|
rs1428613332 CA395496863 |
953 | A>T | No |
ClinGen gnomAD |
|
|
CA395496881 rs1479491292 |
953 | A>V | No |
ClinGen gnomAD |
|
|
rs752404075 CA7998461 |
954 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA7998459 rs374422460 |
954 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7998460 rs752404075 |
954 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA395496893 rs1181348040 |
955 | L>F | No |
ClinGen TOPMed |
|
|
CA7998462 rs779363895 |
958 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA395497032 rs1596616850 |
961 | S>T | No |
ClinGen Ensembl |
|
|
rs368349313 CA280400390 |
962 | S>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA395497114 rs1474280101 |
963 | S>Y | No |
ClinGen Ensembl |
|
|
CA395497133 rs1279600569 |
965 | L>I | No |
ClinGen gnomAD |
|
|
CA395497172 rs1184778082 |
967 | P>L | No |
ClinGen Ensembl |
|
|
rs1226649608 CA395497158 |
967 | P>T | No |
ClinGen gnomAD |
|
|
rs1358807686 CA395497273 |
972 | L>P | No |
ClinGen TOPMed |
|
|
CA395497296 rs1264035631 |
974 | L>F | No |
ClinGen gnomAD |
|
|
rs1596617041 CA395497391 |
978 | A>E | No |
ClinGen Ensembl |
|
|
rs1408415439 CA395497460 |
981 | G>D | No |
ClinGen TOPMed |
|
|
CA395497471 rs1458728329 |
982 | G>R | No |
ClinGen gnomAD |
|
| rs1370755774 | 983 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395497540 rs1402743256 |
986 | Q>* | No |
ClinGen gnomAD |
|
|
CA280400416 rs368557354 |
987 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs371334367 CA280400419 |
987 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs201030524 CA7998476 |
988 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1357498708 CA395497623 |
991 | A>G | No |
ClinGen gnomAD |
|
|
rs1357498708 CA395497625 |
991 | A>V | No |
ClinGen gnomAD |
|
|
CA395497631 rs1219079424 |
992 | L>F | No |
ClinGen gnomAD |
|
|
CA395497660 rs1490036487 |
993 | E>D | No |
ClinGen gnomAD |
|
|
rs759054733 CA7998479 |
995 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA7998480 rs767155571 |
996 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752250092 CA7998481 |
997 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183321738 CA395497722 |
998 | G>C | No |
ClinGen gnomAD |
|
|
CA7998483 rs779135850 |
1000 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs778607509 CA280400459 |
1003 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs778607509 CA395497792 |
1003 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1234051453 CA395497809 |
1004 | L>Q | No |
ClinGen TOPMed |
|
|
rs758771154 CA7998485 |
1005 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7998487 rs368171889 |
1006 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7998486 rs368171889 |
1006 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 1007 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395497881 rs1396567805 |
1008 | T>I | No |
ClinGen gnomAD |
|
|
CA395497884 rs1314022526 |
1009 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs948537507 CA280400499 |
1009 | A>V | No |
ClinGen Ensembl |
|
|
rs1596617387 CA395497931 |
1011 | H>Q | No |
ClinGen Ensembl |
|
|
CA7998491 rs770111165 |
1013 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA395497943 rs1287001693 |
1013 | P>S | No |
ClinGen gnomAD |
|
|
rs1483843891 CA395497998 |
1018 | L>V | No |
ClinGen gnomAD |
|
|
rs1241626262 CA395498013 |
1019 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1241626262 CA395498009 |
1019 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA395498036 rs1179728929 |
1021 | A>T | No |
ClinGen gnomAD |
|
|
rs1408226261 CA395498045 |
1022 | Q>K | No |
ClinGen gnomAD |
|
|
rs1418199770 CA395498054 |
1022 | Q>R | No |
ClinGen gnomAD |
|
|
rs1048258295 CA280400516 |
1023 | G>S | No |
ClinGen Ensembl |
|
|
CA395498080 rs1156261345 |
1024 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA280400518 rs909787343 |
1024 | T>I | No |
ClinGen Ensembl |
|
|
rs1261463041 CA395498100 |
1025 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs774378915 CA7998495 |
1026 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7998496 rs200094589 |
1027 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7998498 rs140857929 |
1029 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395498247 rs1222316235 |
1032 | L>P | No |
ClinGen gnomAD |
|
|
CA7998500 rs763739523 |
1033 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1312865991 CA395498288 |
1034 | W>* | No |
ClinGen gnomAD |
|
|
CA395498296 rs1223048815 |
1035 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7998501 rs144609126 |
1035 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395498305 rs1459511676 |
1036 | R>* | No |
ClinGen gnomAD |
|
|
CA7998502 rs146662869 |
1036 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1596617740 CA395498324 |
1037 | G>A | No |
ClinGen Ensembl |
|
|
rs1480068036 CA395498349 |
1039 | M>V | No |
ClinGen gnomAD |
|
|
rs1426902378 CA395498397 |
1041 | V>I | No |
ClinGen gnomAD |
|
|
rs1016930399 CA280400639 |
1042 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA395498430 rs1016930399 |
1042 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1467139496 CA395498491 |
1045 | L>V | No |
ClinGen gnomAD |
|
|
rs1329255988 CA395498513 |
1046 | G>R | No |
ClinGen gnomAD |
|
|
CA395498549 rs1353715685 |
1047 | A>T | No |
ClinGen gnomAD |
|
|
rs1440224288 CA395498576 |
1047 | A>V | No |
ClinGen gnomAD |
|
|
rs565696351 CA7998505 |
1048 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs565696351 CA395498581 |
1048 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748325493 CA7998507 |
1049 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs781117726 CA7998506 |
1049 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs1281510718 CA395498642 |
1050 | L>F | No |
ClinGen gnomAD |
|
|
rs1219787134 CA395498704 |
1052 | A>S | No |
ClinGen gnomAD |
|
|
rs1297054153 CA395498771 |
1053 | W>C | No |
ClinGen TOPMed |
|
|
CA395498852 rs1432713751 |
1057 | A>V | No |
ClinGen TOPMed |
|
|
rs1306112043 CA395498912 |
1059 | P>L | No |
ClinGen gnomAD |
|
|
rs777989484 CA7998509 |
1061 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs369823069 CA7998511 |
1063 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774325942 CA7998513 COSM1377300 |
1065 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
COSM1301847 CA280400712 rs972217949 |
1067 | G>D | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA395499179 rs972217949 |
1067 | G>V | No |
ClinGen TOPMed gnomAD |
|
| rs752509959 | 1068 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7998515 rs772206724 |
1069 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs775298762 CA7998516 |
1070 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA7998519 rs776308173 |
1071 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763535632 CA7998518 |
1071 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA395499274 rs533140450 |
1072 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7998520 rs533140450 |
1072 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1342464401 CA395499331 |
1073 | Q>* | No |
ClinGen gnomAD |
|
|
rs1270124447 CA395499360 |
1074 | G>D | No |
ClinGen gnomAD |
|
|
rs373055729 CA7998522 |
1074 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755470822 CA7998523 |
1075 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs753157774 CA395499407 |
1076 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7998525 rs753157774 |
1076 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7998524 rs768000716 |
1076 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7998526 rs756165206 |
1077 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777742559 CA7998527 |
1078 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs754079189 CA7998528 |
1078 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757599173 CA7998529 |
1079 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA395499467 rs1474414444 |
1079 | R>W | No |
ClinGen gnomAD |
|
|
CA395499492 rs1424189692 |
1080 | G>D | No |
ClinGen gnomAD |
|
|
CA7998530 rs778850239 |
1080 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280400798 rs942365388 |
1081 | I>M | No |
ClinGen TOPMed |
|
|
rs1567250822 CA395499509 |
1081 | I>V | No |
ClinGen Ensembl |
|
|
rs771780720 CA7998532 |
1083 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA395499581 rs1243048569 |
1084 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1401327054 CA395499617 |
1085 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA280400800 rs1031649698 |
1087 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA280400823 rs925207056 |
1087 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA280400820 rs1031649698 |
1087 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA395499732 rs1382519704 |
1091 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7998533 rs779997095 |
1091 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432898900 CA395499863 |
1095 | M>I | No |
ClinGen TOPMed |
|
|
CA7998536 rs776168886 |
1095 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs570111696 CA7998535 |
1095 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1423760081 CA395499916 |
1097 | F>L | No |
ClinGen TOPMed |
|
|
CA280400868 COSM1470849 rs970207198 |
1098 | R>Q | prostate Variant assessed as Somatic; 0.0001391 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs761440065 CA7998537 |
1098 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203054773 CA395499943 |
1099 | A>S | No |
ClinGen TOPMed |
|
|
CA7998540 rs200281592 |
1101 | Q>R | No |
ClinGen TOPMed |
|
|
rs767790551 CA7998545 |
1109 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759836142 CA7998544 |
1109 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1013415121 CA280400928 |
1110 | G>S | No |
ClinGen TOPMed |
|
|
CA395500290 rs1337949451 |
1112 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 1113 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764209611 CA7998548 |
1114 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs750700093 CA7998552 |
1119 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs779222499 CA7998551 |
1119 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA395500423 rs1278377206 |
1121 | D>H | No |
ClinGen gnomAD |
|
|
CA280400972 rs113853312 |
1122 | G>D | No |
ClinGen Ensembl |
|
|
rs1347901538 CA395500442 |
1122 | G>S | No |
ClinGen gnomAD |
|
|
COSM1228489 CA280400977 rs905235426 |
1124 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs750925824 CA280401008 |
1126 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs189332502 CA7998554 |
1126 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs78092725 CA7998557 |
1129 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7998559 rs769306491 |
1131 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA7998561 rs762541075 |
1132 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs147468853 CA7998563 |
1133 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772447624 CA7998562 |
1133 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7998565 rs545581481 |
1134 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761228642 CA7998564 |
1134 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA280401034 rs954914582 |
1135 | R>C | No |
ClinGen TOPMed |
|
|
CA7998568 rs374855838 |
1135 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1406219826 CA395500612 |
1136 | N>D | No |
ClinGen gnomAD |
|
|
rs1209067791 CA395500638 |
1137 | P>L | No |
ClinGen TOPMed |
|
|
CA7998570 rs557300662 |
1138 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395500654 rs1221615653 |
1138 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1340533086 CA395500659 |
1139 | T>A | No |
ClinGen TOPMed |
|
|
CA7998571 rs766185229 |
1139 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567251310 CA395500710 |
1142 | H>Y | No |
ClinGen Ensembl |
|
|
CA7998572 rs751374679 |
1143 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1248650704 CA395500745 |
1144 | L>S | No |
ClinGen gnomAD |
|
|
rs781049167 CA7998574 |
1148 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280401099 rs1031930816 |
1149 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1322987636 CA395500838 |
1150 | V>F | No |
ClinGen TOPMed |
|
|
CA395500866 rs1173182915 |
1151 | W>* | No |
ClinGen gnomAD |
|
|
rs1388636808 CA395500876 |
1152 | V>F | No |
ClinGen TOPMed |
|
|
rs200334119 CA7998578 |
1160 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA395501036 rs1567251403 |
1162 | A>V | No |
ClinGen Ensembl |
|
|
CA7998580 rs143930866 |
1163 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA395501068 rs1402619693 |
1165 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1165 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1297635790 CA395501075 |
1165 | S>T | No |
ClinGen gnomAD |
|
|
CA7998582 rs769166765 |
1166 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA280401171 rs970533552 |
1167 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA395501110 rs970533552 |
1167 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7998583 rs777238588 |
1169 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA395501161 rs1223511523 |
1170 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs371354252 CA7998584 |
1173 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395501255 rs371354252 |
1173 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7998587 rs375289466 |
1174 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395501284 rs375289466 |
1174 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs878872050 CA280401191 |
1175 | W>G | No |
ClinGen Ensembl |
|
|
CA395501413 rs1215457514 |
1178 | H>R | No |
ClinGen TOPMed |
|
|
rs1356484232 CA395501439 |
1179 | T>I | No |
ClinGen TOPMed |
|
|
rs767326939 CA7998591 |
1181 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1264378100 CA395501484 |
1181 | A>V | No |
ClinGen TOPMed |
|
|
rs1327839352 CA395501622 |
1186 | L>F | No |
ClinGen TOPMed |
|
|
rs1364648297 CA395501645 |
1187 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA395501653 rs1364648297 |
1187 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1163810684 CA395501640 |
1187 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7998594 rs777250056 |
1188 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1364899186 CA395501679 |
1188 | G>V | No |
ClinGen TOPMed |
|
|
CA395501694 rs1319182013 |
1189 | E>K | No |
ClinGen TOPMed |
|
|
CA395501746 rs778381460 |
1190 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7998597 rs778381460 |
1190 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7998596 rs756806042 |
1190 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395501761 rs1246519045 |
1191 | P>S | No |
ClinGen gnomAD |
|
|
CA395501807 rs1264132970 |
1193 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA395501812 rs1357616561 |
1193 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA395501826 rs1217977686 |
1194 | I>V | No |
ClinGen gnomAD |
|
|
CA395501860 rs1261415972 |
1195 | P>L | No |
ClinGen gnomAD |
|
|
rs540709989 CA7998602 COSM417054 |
1196 | R>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA7998600 rs777189424 |
1196 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762880651 CA7998604 |
1197 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA395501934 rs1596619394 |
1198 | L>P | No |
ClinGen Ensembl |
|
|
CA280401273 rs984235071 |
1198 | L>V | No |
ClinGen TOPMed |
|
|
CA7998607 rs371014944 |
1200 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7998606 rs371014944 |
1200 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767277640 CA7998608 |
1200 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs905288414 CA280401302 |
1202 | Q>P | No |
ClinGen TOPMed |
|
|
CA395502055 rs1318448458 |
1203 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs752545505 CA7998610 |
1203 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7998611 rs760600341 |
1204 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395502090 rs1453067603 |
1204 | Q>P | No |
ClinGen gnomAD |
|
|
rs961237314 CA280401322 |
1206 | G>E | No |
ClinGen Ensembl |
|
|
rs2069863285 RCV001310055 |
1206 | G>R | No |
ClinVar dbSNP |
|
|
rs373807941 CA7998613 |
1207 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA280401333 rs993457550 |
1208 | P>S | No |
ClinGen TOPMed |
|
|
CA280401340 rs922513697 |
1209 | A>G | No |
ClinGen Ensembl |
|
|
rs267604505 CA280401342 |
1210 | S>F | No |
ClinGen Ensembl |
|
|
rs562874743 CA7998615 |
1211 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs11864149 CA7998616 |
1211 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs11864149 CA280401344 |
1211 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA395502285 rs11864149 |
1211 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA395502360 rs1462195686 |
1213 | P>L | No |
ClinGen gnomAD |
|
|
RCV001351803 rs2069864656 |
1215 | P>S | No |
ClinVar dbSNP |
|
|
CA7998617 rs758185749 |
1216 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs781689890 CA7998618 |
1217 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA395502468 rs1250871499 |
1218 | L>V | No |
ClinGen gnomAD |
|
|
CA395502480 rs1417998961 |
1219 | A>T | No |
ClinGen gnomAD |
|
|
CA7998621 rs778089235 |
1220 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749828384 CA7998622 |
1221 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280401364 rs1017750956 |
1221 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA395502541 rs1170637562 |
1222 | R>K | No |
ClinGen Ensembl |
|
|
rs946432141 CA280401401 |
1223 | S>A | No |
ClinGen Ensembl |
|
|
CA7998624 rs774537800 |
1224 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7998625 rs759740148 |
1224 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280401437 rs926076191 |
1225 | T>I | No |
ClinGen TOPMed |
|
|
rs772346371 CA7998626 |
1225 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs926076191 CA395502604 |
1225 | T>S | No |
ClinGen TOPMed |
|
|
rs760416360 CA7998628 |
1226 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199646401 CA7998629 RCV000881590 COSM1197379 |
1226 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs199646401 CA395502637 |
1226 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199646401 CA7998630 |
1226 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760416360 CA395502617 |
1226 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764643777 CA7998632 |
1228 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs757989465 CA7998634 |
1229 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7998633 rs3814882 |
1229 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395502730 rs1480117741 |
1230 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1480117741 CA395502736 |
1230 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA395502724 rs1480117741 |
1230 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs751276891 CA7998636 |
1231 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA7998638 rs778236519 |
1232 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7998637 rs746405927 |
1232 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280401493 rs746405927 |
1232 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7998642 rs549071207 |
1233 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs549071207 CA7998641 |
1233 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7998640 rs549071207 |
1233 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395502900 rs772164234 |
1234 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA7998643 rs772164234 |
1234 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1289089269 CA395502946 |
1236 | R>E | No |
ClinGen TOPMed |
|
|
rs1289089269 CA395502944 |
1236 | R>Q | No |
ClinGen TOPMed |
|
|
rs1304961608 CA395502950 |
1236 | R>S | No |
ClinGen gnomAD |
No associated diseases with Q9UL54
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
13 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. |
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| axonal growth cone | The migrating motile tip of a growing nerve cell axon. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| cytoplasmic vesicle membrane | The lipid bilayer surrounding a cytoplasmic vesicle. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| dendritic growth cone | The migrating motile tip of a growing nerve cell dendrite. |
| integral component of membrane | The component of a 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. |
| 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. |
| receptor complex | Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| MAP kinase kinase kinase activity | Catalysis of the phosphorylation and activation of a MAP kinase kinase; each MAP kinase kinase can be phosphorylated by any of several MAP kinase kinase kinases. |
| mitogen-activated protein kinase kinase binding | Binding to a mitogen-activated protein kinase kinase, a protein that can phosphorylate a MAP kinase. |
| neuropilin binding | Binding to a member of the neuropilin family. |
| protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
| protein serine/threonine kinase activator activity | Binds to and increases the activity of a protein serine/threonine kinase. |
| protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
| tau protein binding | Binding to tau protein. tau is a microtubule-associated protein, implicated in Alzheimer's disease, Down Syndrome and ALS. |
| tau-protein kinase activity | Catalysis of the reaction: ATP + tau-protein = ADP + O-phospho-tau-protein. |
25 GO annotations of biological process
| Name | Definition |
|---|---|
| actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
| activation of protein kinase activity | Any process that initiates the activity of an inactive protein kinase. |
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| axonogenesis | De novo generation of a long process of a neuron, including the terminal branched region. Refers to the morphogenesis or creation of shape or form of the developing axon, which carries efferent (outgoing) action potentials from the cell body towards target cells. |
| basal dendrite arborization | The process in which the anatomical structures of a dendritic tree are generated on the basal neuron side and organized into dendritic branches. |
| basal dendrite morphogenesis | The process in which the anatomical structures of a basal dendrite are generated and organized. |
| 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 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. |
| focal adhesion assembly | The aggregation and bonding together of a set of components to form a focal adhesion, a complex of intracellular signaling and structural proteins that provides a structural link between the internal actin cytoskeleton and the ECM, and also function as a locus of signal transduction activity. |
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| MAPK cascade | An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. |
| mitotic G2 DNA damage checkpoint signaling | A mitotic cell cycle checkpoint that detects and negatively regulates progression through the G2/M transition of the cell cycle in response to DNA damage. |
| neuron projection morphogenesis | The process in which the anatomical structures of a neuron projection are generated and organized. A neuron projection is any process extending from a neural cell, such as axons or dendrites. |
| positive regulation of JNK cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the JNK cascade. |
| positive regulation of MAPK cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade. |
| positive regulation of protein autophosphorylation | Any process that activates or increases the frequency, rate or extent of the phosphorylation by a protein of one or more of its own residues. |
| positive regulation of stress-activated MAPK cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the stress-activated MAPK cascade. |
| protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| protein targeting to membrane | The process of directing proteins towards a membrane, usually using signals contained within the protein. |
| 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 cell growth | Any process that modulates the frequency, rate, extent or direction of cell growth. |
| regulation of cell shape | Any process that modulates the surface configuration of a cell. |
| regulation of MAPK cascade | Any process that modulates the frequency, rate or extent of signal transduction mediated by the MAP kinase (MAPK) cascade. |
| stress-activated MAPK cascade | The series of molecular signals in which a stress-activated MAP kinase cascade relays a signal; MAP kinase cascades involve at least three protein kinase activities and culminate in the phosphorylation and activation of a MAP kinase. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPAGGRAGSL | KDPDVAELFF | KDDPEKLFSD | LREIGHGSFG | AVYFARDVRN | SEVVAIKKMS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YSGKQSNEKW | QDIIKEVRFL | QKLRHPNTIQ | YRGCYLREHT | AWLVMEYCLG | SASDLLEVHK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KPLQEVEIAA | VTHGALQGLA | YLHSHNMIHR | DVKAGNILLS | EPGLVKLGDF | GSASIMAPAN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SFVGTPYWMA | PEVILAMDEG | QYDGKVDVWS | LGITCIELAE | RKPPLFNMNA | MSALYHIAQN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ESPVLQSGHW | SEYFRNFVDS | CLQKIPQDRP | TSEVLLKHRF | VLRERPPTVI | MDLIQRTKDA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VRELDNLQYR | KMKKILFQEA | PNGPGAEAPE | EEEEAEPYMH | RAGTLTSLES | SHSVPSMSIS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ASSQSSSVNS | LADASDNEEE | EEEEEEEEEE | EEGPEAREMA | MMQEGEHTVT | SHSSIIHRLP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GSDNLYDDPY | QPEITPSPLQ | PPAAPAPTST | TSSARRRAYC | RNRDHFATIR | TASLVSRQIQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EHEQDSALRE | QLSGYKRMRR | QHQKQLLALE | SRLRGEREEH | SARLQRELEA | QRAGFGAEAE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KLARRHQAIG | EKEARAAQAE | ERKFQQHILG | QQKKELAALL | EAQKRTYKLR | KEQLKEELQE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| NPSTPKREKA | EWLLRQKEQL | QQCQAEEEAG | LLRRQRQYFE | LQCRQYKRKM | LLARHSLDQD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LLREDLNKKQ | TQKDLECALL | LRQHEATREL | ELRQLQAVQR | TRAELTRLQH | QTELGNQLEY |
| 730 | 740 | 750 | 760 | 770 | 780 |
| NKRREQELRQ | KHAAQVRQQP | KSLKVRAGQR | PPGLPLPIPG | ALGPPNTGTP | IEQQPCSPGQ |
| 790 | 800 | 810 | 820 | 830 | 840 |
| EAVLDQRMLG | EEEEAVGERR | ILGKEGATLE | PKQQRILGEE | SGAPSPSPQK | HGSLVDEEVW |
| 850 | 860 | 870 | 880 | 890 | 900 |
| GLPEEIEELR | VPSLVPQERS | IVGQEEAGTW | SLWGKEDESL | LDEEFELGWV | QGPALTPVPE |
| 910 | 920 | 930 | 940 | 950 | 960 |
| EEEEEEEGAP | IGTPRDPGDG | CPSPDIPPEP | PPTHLRPCPA | SQLPGLLSHG | LLAGLSFAVG |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| SSSGLLPLLL | LLLLPLLAAQ | GGGGLQAALL | ALEVGLVGLG | ASYLLLCTAL | HLPSSLFLLL |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| AQGTALGAVL | GLSWRRGLMG | VPLGLGAAWL | LAWPGLALPL | VAMAAGGRWV | RQQGPRVRRG |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| ISRLWLRVLL | RLSPMAFRAL | QGCGAVGDRG | LFALYPKTNK | DGFRSRLPVP | GPRRRNPRTT |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| QHPLALLARV | WVLCKGWNWR | LARASQGLAS | HLPPWAIHTL | ASWGLLRGER | PTRIPRLLPR |
| 1210 | 1220 | 1230 | |||
| SQRQLGPPAS | RQPLPGTLAG | RRSRTRQSRA | LPPWR |