Q6ZW49
PR
Gene name |
PAXIP1 (PAXIP1L, PTIP, CAGF28) |
Protein name |
PAX-interacting protein 1 |
Names |
PAX transactivation activation domain-interacting protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:22976 |
EC number |
|
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
2 structures for Q6ZW49
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3SQD | X-ray | 215 A | A/B | 860-1069 | PDB |
| AF-Q6ZW49-F1 | Predicted | AlphaFoldDB |
650 variants for Q6ZW49
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs549457464 CA4584840 |
4 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370119127 rs1308778960 |
5 | A>V | No |
ClinGen TOPMed |
|
|
rs1377657643 CA370119119 |
7 | K>E | No |
ClinGen gnomAD |
|
|
rs766748281 CA4584838 |
7 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370119111 rs1479609459 |
8 | V>F | No |
ClinGen TOPMed |
|
|
rs756529781 CA4584837 |
9 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4584836 rs373134295 |
10 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1425006967 CA370119094 |
11 | E>K | No |
ClinGen gnomAD |
|
|
CA169298190 rs978138422 |
12 | M>I | No |
ClinGen TOPMed |
|
|
rs369043000 CA4584834 |
12 | M>L | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 14 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761931932 CA4584832 |
15 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4584831 rs373791561 |
16 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4584829 rs763089645 |
17 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1327091866 CA370119011 |
23 | D>Y | No |
ClinGen TOPMed |
|
|
rs1222981060 CA370119002 |
24 | I>V | No |
ClinGen gnomAD |
|
|
CA370118993 rs1394230430 |
25 | D>A | No |
ClinGen TOPMed |
|
|
CA370118986 rs1284333863 |
26 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA169296835 rs928645882 |
28 | V>A | No |
ClinGen TOPMed |
|
|
rs1256859855 CA370118531 |
31 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1256018316 CA370118511 |
34 | A>S | No |
ClinGen gnomAD |
|
|
rs1256018316 CA370118513 |
34 | A>T | No |
ClinGen gnomAD |
|
|
rs1389534737 CA370118489 |
37 | A>G | No |
ClinGen TOPMed |
|
|
rs541708292 CA4584796 |
39 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 44 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1585091482 CA370118421 |
48 | H>N | No |
ClinGen Ensembl |
|
| TCGA novel | 48 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380862434 CA370118412 |
49 | I>V | No |
ClinGen gnomAD |
|
|
rs1464613336 CA370118406 |
50 | I>L | No |
ClinGen gnomAD |
|
|
CA4584795 rs751996771 |
52 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA169296821 rs978244728 |
53 | D>N | No |
ClinGen Ensembl |
|
|
CA370118358 rs1173371779 |
56 | N>K | No |
ClinGen gnomAD |
|
|
rs1385419434 CA370118361 |
56 | N>S | No |
ClinGen TOPMed |
|
|
rs1462939616 CA370118355 |
57 | P>S | No |
ClinGen gnomAD |
|
|
CA4584793 rs758375967 |
63 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1185835451 CA370118316 |
63 | R>W | Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA370118306 rs1243928081 |
64 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 66 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1178279190 CA370118290 |
67 | D>N | No |
ClinGen gnomAD |
|
|
CA4584791 rs765505405 |
72 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA169295165 rs867599064 |
79 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs745532206 CA370117566 |
80 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4584778 rs745532206 |
80 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 83 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292223809 CA370117545 |
83 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 84 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4584776 rs771191824 |
84 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416822777 CA370117521 |
85 | L>P | No |
ClinGen TOPMed |
|
|
CA370128194 rs1398500253 |
94 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs867603775 CA169306762 |
95 | S>* | No |
ClinGen Ensembl |
|
|
rs1319161655 CA370128144 |
96 | C>W | No |
ClinGen gnomAD |
|
|
rs1047476927 CA169306759 |
96 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA169306756 rs867003741 |
97 | Q>H | No |
ClinGen gnomAD |
|
|
rs1372450900 CA370128116 |
98 | I>N | No |
ClinGen gnomAD |
|
|
CA370128069 rs1400406795 |
100 | F>L | No |
ClinGen gnomAD |
|
| rs753190856 | 100 | F>L | Variant assessed as Somatic; 0.0003434 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs753190856 | 101 | G>W | Variant assessed as Somatic; 0.0001145 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1174368161 CA370128046 |
102 | I>V | No |
ClinGen gnomAD |
|
|
rs1429857686 CA370128029 |
103 | T>A | No |
ClinGen gnomAD |
|
|
CA370128011 rs1282457251 |
104 | A>V | No |
ClinGen TOPMed |
|
|
CA4584757 rs759108651 |
106 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs868037554 CA169306743 |
108 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 109 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753217364 CA4584718 |
110 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455015760 CA370127291 |
111 | S>Y | No |
ClinGen gnomAD |
|
|
CA370127257 rs1243323697 |
116 | A>T | No |
ClinGen TOPMed |
|
|
CA169304269 rs1009810454 |
119 | A>T | No |
ClinGen Ensembl |
|
|
CA4584715 rs750061043 |
120 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375107349 CA169304265 |
121 | V>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4584714 rs767327535 |
122 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs749879690 CA4584713 |
123 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769222148 CA370127206 |
124 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769222148 CA4584711 |
124 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370127181 rs1208059381 |
128 | C>R | No |
ClinGen gnomAD |
|
|
rs1325781490 CA370127160 |
131 | T>A | No |
ClinGen gnomAD |
|
|
CA4584710 rs763531386 |
131 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4584708 rs769910731 |
133 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA4584707 rs745970921 |
133 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362189089 CA370127054 |
141 | V>A | No |
ClinGen gnomAD |
|
|
rs771163096 CA4584705 |
142 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309507951 CA370127040 |
143 | E>K | No |
ClinGen TOPMed |
|
|
CA4584702 rs754789871 |
145 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4584701 rs753811364 |
145 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4584684 rs749087515 |
150 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA370125413 rs1267877450 |
151 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA169301336 COSM1449579 rs910817563 |
155 | R>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs756042192 CA4584682 |
155 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA370125378 rs1436186480 |
156 | A>V | No |
ClinGen gnomAD |
|
|
rs1261624 CA169301323 |
158 | I>L | No |
ClinGen Ensembl |
|
| TCGA novel | 160 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370057260 CA4584681 |
164 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4584679 rs200881591 |
170 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751250291 CA4584678 |
171 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1361124958 CA370125274 |
172 | E>G | No |
ClinGen gnomAD |
|
|
rs763691936 CA370125269 |
173 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs763691936 CA4584677 |
173 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA169301303 rs954735123 |
174 | T>N | No |
ClinGen TOPMed |
|
|
CA370125253 rs1227774485 |
175 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs765734080 CA4584673 |
184 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs759964207 CA370125184 |
185 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282209851 CA370125182 |
185 | L>P | No |
ClinGen TOPMed |
|
|
CA370125171 rs1301650183 |
187 | I>V | No |
ClinGen gnomAD |
|
|
rs148049334 CA169301281 |
188 | Y>S | No |
ClinGen 1000Genomes |
|
|
CA370125145 rs1220831862 |
190 | E>V | No |
ClinGen TOPMed |
|
|
rs776633958 CA4584671 |
193 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766443526 CA4584670 |
193 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1248490429 CA370125106 |
195 | E>D | No |
ClinGen TOPMed |
|
|
rs1563378340 CA370125090 |
197 | E>D | No |
ClinGen Ensembl |
|
|
CA370125083 rs1365613878 |
198 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA370125059 rs1182712759 |
201 | V>A | No |
ClinGen gnomAD |
|
|
rs1419982662 CA370125036 |
204 | E>D | No |
ClinGen TOPMed |
|
|
rs760786489 CA4584662 |
206 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376289874 CA4584659 |
207 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs577391286 CA4584660 |
207 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370125017 rs1351585384 |
207 | D>Y | No |
ClinGen TOPMed |
|
|
CA370125013 rs1291975370 |
208 | S>T | No |
ClinGen gnomAD |
|
|
CA4584658 rs775157278 |
210 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs370668555 CA4584657 |
212 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4584656 rs745791091 |
213 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA370124967 rs1271074579 |
214 | T>I | No |
ClinGen TOPMed |
|
|
rs569181798 CA169301233 |
215 | D>G | No |
ClinGen Ensembl |
|
|
rs1261958044 CA370124944 |
217 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA370124918 rs1330997055 |
221 | A>G | No |
ClinGen gnomAD |
|
|
CA370124909 rs1585065033 |
222 | S>R | No |
ClinGen Ensembl |
|
|
CA370124907 rs1407092827 |
223 | S>P | No |
ClinGen gnomAD |
|
|
CA370124900 rs1413856833 |
224 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs373202722 CA4584655 |
227 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756794133 CA4584654 |
227 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4584651 rs758016631 |
230 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1465643572 CA370124862 |
230 | G>C | No |
ClinGen gnomAD |
|
|
rs758016631 CA370124861 |
230 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 235 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779156599 CA4584649 |
236 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs755391614 CA4584648 |
237 | K>E | No |
ClinGen ExAC |
|
|
rs1269326230 CA370124800 |
239 | N>T | No |
ClinGen gnomAD |
|
|
CA4584647 rs754312945 |
240 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1444898194 CA370124791 |
240 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4584646 rs537234680 |
241 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA370124766 rs760696837 |
244 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4584645 rs760696837 |
244 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA169301185 CA370124762 rs931082587 |
245 | G>R | No |
ClinGen gnomAD |
|
|
CA370124757 rs1261754848 |
246 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 247 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1269969800 CA370124696 |
254 | D>H | No |
ClinGen gnomAD |
|
|
rs774694965 CA4584641 |
257 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA169301170 rs1037840021 |
260 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA370124633 rs1395479185 |
263 | N>D | No |
ClinGen gnomAD |
|
|
rs371953724 CA169301168 |
263 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
| TCGA novel | 264 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1058833 CA169301159 |
266 | W>* | No |
ClinGen Ensembl |
|
|
CA4584638 rs369132770 |
267 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370124598 rs1178756701 |
268 | P>A | No |
ClinGen gnomAD |
|
|
rs61752015 CA4584637 |
268 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370124594 rs1167070438 |
269 | A>T | No |
ClinGen gnomAD |
|
|
rs746474744 CA4584635 |
270 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1050691310 CA169301134 |
271 | V>A | No |
ClinGen TOPMed |
|
|
CA4584634 rs368471881 |
271 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368471881 CA4584633 |
271 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370124573 rs1229961439 |
272 | P>L | No |
ClinGen gnomAD |
|
|
rs1460432331 CA370124569 |
273 | Q>R | No |
ClinGen gnomAD |
|
|
rs747741326 CA4584632 |
277 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4584631 rs368695616 |
279 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1355987976 CA370124530 |
279 | R>H | No |
ClinGen TOPMed |
|
|
rs1205834937 CA370124527 |
280 | R>G | No |
ClinGen TOPMed |
|
|
CA4584630 rs755315757 |
280 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1380928465 CA370124485 |
286 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4584628 rs372440760 |
286 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1338756317 CA370124478 |
287 | P>L | No |
ClinGen gnomAD |
|
|
rs1359628092 CA370124472 |
288 | G>A | No |
ClinGen gnomAD |
|
|
CA4584627 rs368177953 |
288 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4584625 rs767483916 |
289 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750463496 CA4584626 |
289 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs751697875 CA4584623 |
292 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA370124433 rs1443621385 |
294 | A>D | No |
ClinGen gnomAD |
|
|
rs764458377 CA4584622 |
295 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs979485309 CA169301090 |
297 | P>A | No |
ClinGen TOPMed |
|
|
rs1461403653 CA370124408 |
298 | P>R | No |
ClinGen gnomAD |
|
|
CA4584620 rs776595094 |
299 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 301 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770925194 CA4584619 |
303 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs969471985 CA169301082 |
305 | P>H | No |
ClinGen Ensembl |
|
|
CA370124366 rs1222272386 |
305 | P>S | No |
ClinGen gnomAD |
|
|
rs1357506644 CA370124363 |
306 | P>S | No |
ClinGen gnomAD |
|
|
CA169301078 rs1023184614 |
308 | V>I | No |
ClinGen Ensembl |
|
|
CA4584617 rs199935384 |
309 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760702055 CA4584618 |
309 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372714347 CA370124336 |
310 | G>V | No |
ClinGen gnomAD |
|
|
rs1278813219 CA370124335 |
311 | N>H | No |
ClinGen gnomAD |
|
|
rs201168482 CA4584616 |
311 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747744405 CA4584615 |
313 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 313 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370124308 rs1308387200 |
314 | A>V | No |
ClinGen gnomAD |
|
|
rs768328980 CA370124304 |
315 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768328980 CA4584613 |
315 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768328980 CA169301060 |
315 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4584612 rs749589303 |
316 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA370124300 rs749589303 |
316 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA4584610 rs571347987 |
317 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746359900 CA4584609 |
318 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA4584608 rs781744249 |
319 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA370124272 rs1234003641 |
320 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs757258748 CA4584607 |
321 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs191641012 CA4584606 |
322 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 324 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370124224 rs1294148365 |
327 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA4584605 rs764368417 |
328 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370124192 rs1221169024 |
332 | S>C | No |
ClinGen TOPMed |
|
|
rs61752013 CA4584604 |
335 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4584601 rs760584538 |
336 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs540417697 CA4584602 |
336 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767514044 CA4584599 |
340 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA370124119 rs1343429318 |
344 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 347 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458081439 CA370124092 |
347 | I>M | No |
ClinGen gnomAD |
|
|
CA370124087 rs1241186180 |
348 | Q>R | No |
ClinGen TOPMed |
|
|
rs370070820 CA4584596 |
352 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4584597 rs374253449 |
352 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370124052 rs1401965778 |
353 | P>L | No |
ClinGen gnomAD |
|
|
rs1413278261 CA370124048 |
354 | S>P | No |
ClinGen gnomAD |
|
|
rs748930675 CA4584595 |
355 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4584594 rs775193126 |
356 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4584593 rs376471704 |
357 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA370124020 rs1485653439 |
358 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA370124023 rs1200676536 |
358 | H>R | No |
ClinGen gnomAD |
|
|
CA4584572 rs762308654 |
363 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1240669115 CA370123327 |
364 | S>A | No |
ClinGen TOPMed |
|
|
rs1233634338 CA370123310 |
365 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs867167581 CA169298221 |
366 | P>H | No |
ClinGen Ensembl |
|
|
rs1306720029 CA370123305 |
366 | P>S | No |
ClinGen gnomAD |
|
|
rs991391155 CA169298218 |
367 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs771281849 CA4584570 |
368 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 369 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA169298211 rs866326764 |
371 | E>* | No |
ClinGen Ensembl |
|
|
rs1335468907 CA370123238 |
372 | Q>E | No |
ClinGen gnomAD |
|
|
CA4584569 rs747536491 |
374 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1058834 CA169298201 |
376 | H>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370123183 rs1461751380 |
376 | H>P | No |
ClinGen gnomAD |
|
|
CA4584568 rs1058834 |
376 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772247568 CA4584567 |
381 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA370123122 rs1173074671 |
381 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1158462513 CA370123112 |
382 | T>A | No |
ClinGen TOPMed |
|
|
CA370123094 rs1181784161 |
383 | N>S | No |
ClinGen gnomAD |
|
|
rs750690108 CA169298195 |
384 | A>V | No |
ClinGen Ensembl |
|
|
rs375037270 CA370123070 |
385 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4584566 rs375037270 |
385 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4584565 rs193253138 |
387 | V>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1480305941 CA370123048 |
387 | V>L | No |
ClinGen gnomAD |
|
|
rs1450623786 CA370123013 |
390 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1342397981 CA370122998 |
391 | Q>* | No |
ClinGen gnomAD |
|
|
CA370122991 rs1333599073 |
391 | Q>H | No |
ClinGen TOPMed |
|
|
rs1313967211 CA370122977 |
393 | K>E | No |
ClinGen gnomAD |
|
|
CA370122961 rs1377984864 |
394 | V>M | No |
ClinGen TOPMed |
|
|
rs199937188 CA4584563 |
395 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370122950 rs1446365969 |
395 | T>S | No |
ClinGen TOPMed |
|
|
rs373958152 CA169298176 |
400 | M>V | No |
ClinGen Ensembl |
|
|
rs1235241338 CA370122882 |
401 | L>I | No |
ClinGen TOPMed |
|
|
rs1313985151 CA370122833 |
404 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs891096038 CA169298171 |
407 | A>P | No |
ClinGen Ensembl |
|
| TCGA novel | 407 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1322202255 CA370122794 |
407 | A>V | No |
ClinGen TOPMed |
|
|
CA169298168 CA370122726 rs1052436124 |
413 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs935384493 CA370122720 |
414 | H>Q | No |
ClinGen TOPMed |
|
|
CA4584560 rs377252231 |
414 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs781030473 CA4584561 |
414 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4584556 rs751471678 |
415 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370122716 rs751471678 |
415 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4584554 rs762397614 |
416 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370122704 rs1585056255 |
417 | L>F | No |
ClinGen Ensembl |
|
|
CA370122697 rs1585056247 |
418 | H>P | No |
ClinGen Ensembl |
|
|
CA370122692 rs1184034754 |
419 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 420 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1290511840 CA370122687 |
420 | Q>E | No |
ClinGen gnomAD |
|
|
CA4584553 rs752230999 |
421 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 425 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370122641 rs1265504336 |
426 | Q>* | No |
ClinGen gnomAD |
|
|
rs1388361350 CA370122637 |
426 | Q>H | No |
ClinGen TOPMed |
|
|
rs1410754987 CA370122615 |
429 | Q>H | No |
ClinGen gnomAD |
|
|
rs1309808163 CA370122616 |
429 | Q>L | No |
ClinGen gnomAD |
|
|
CA370122610 rs1345278524 |
430 | Q>L | No |
ClinGen gnomAD |
|
|
rs1345278524 CA370122609 |
430 | Q>R | No |
ClinGen gnomAD |
|
|
rs1563372871 CA370122574 |
434 | Q>H | No |
ClinGen Ensembl |
|
|
rs1249325191 CA370122554 |
437 | Q>H | No |
ClinGen TOPMed |
|
|
rs1585056124 CA370122546 |
438 | Q>H | No |
ClinGen Ensembl |
|
|
CA169298134 rs1052437971 |
440 | Y>D | No |
ClinGen TOPMed |
|
|
rs957006722 CA370122535 |
440 | Y>F | No |
ClinGen gnomAD |
|
|
CA169298131 rs957006722 |
440 | Y>S | No |
ClinGen gnomAD |
|
|
CA370122531 rs915765500 |
441 | P>S | No |
ClinGen gnomAD |
|
|
CA169298128 rs915765500 |
441 | P>T | No |
ClinGen gnomAD |
|
|
CA169298124 rs991337188 |
443 | Q>P | No |
ClinGen Ensembl |
|
|
CA370122511 rs1226171908 |
444 | P>A | No |
ClinGen gnomAD |
|
|
rs767393974 CA4584548 |
444 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370122502 rs1361943888 |
445 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs776203073 CA4584546 |
446 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA370122489 rs1267916689 |
447 | P>L | No |
ClinGen gnomAD |
|
|
CA370122468 rs1197087764 |
450 | Q>H | No |
ClinGen gnomAD |
|
|
CA370122465 rs1477576879 |
451 | Q>E | No |
ClinGen TOPMed |
|
|
CA370122408 rs1267646849 |
458 | A>S | No |
ClinGen gnomAD |
|
|
rs1293857219 CA370122398 |
459 | H>Q | No |
ClinGen TOPMed |
|
|
rs771321112 COSM1087766 CA4584543 |
460 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA370122387 rs1270500416 |
461 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA370122380 rs1340591254 |
462 | Q>P | No |
ClinGen TOPMed |
|
|
CA169298076 rs915854000 |
463 | F>L | No |
ClinGen TOPMed |
|
|
CA370122336 rs1331860777 |
468 | L>P | No |
ClinGen gnomAD |
|
|
rs367927124 CA4584541 |
468 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA370122326 rs1157292626 |
470 | F>L | No |
ClinGen gnomAD |
|
|
rs964178402 CA169298066 |
471 | P>A | No |
ClinGen Ensembl |
|
|
CA370122314 rs1387240671 |
471 | P>L | No |
ClinGen gnomAD |
|
|
CA370122263 rs1457695370 |
478 | P>Q | No |
ClinGen gnomAD |
|
|
CA370122268 rs1221886423 |
478 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 479 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370122239 rs1291429376 |
482 | H>Y | No |
ClinGen TOPMed |
|
|
rs186908992 CA169298063 |
483 | R>C | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
COSM1219394 rs928291763 CA169298055 |
483 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs186908992 CA370122233 |
483 | R>S | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs971766206 CA169298048 |
487 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA169298044 rs1008444377 |
489 | Q>* | No |
ClinGen Ensembl |
|
|
CA4584539 rs772738672 |
489 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA169298036 rs1052737491 |
490 | P>L | No |
ClinGen Ensembl |
|
|
rs550122265 CA4584538 |
491 | F>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA370122172 rs779064733 |
492 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA4584537 rs779064733 |
492 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs749524574 CA4584535 |
497 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1006415685 COSM4164221 CA169298018 |
500 | Q>H | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA370122069 rs1269755667 |
502 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1361141697 CA370122072 |
502 | H>Y | No |
ClinGen TOPMed |
|
|
rs780182426 CA4584534 |
508 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs780182426 CA370121997 |
508 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA4584533 rs757057555 |
509 | L>P | No |
ClinGen ExAC |
|
|
CA370121962 rs1380732314 |
510 | Q>H | No |
ClinGen TOPMed |
|
|
CA370121955 rs1405197951 |
511 | Q>P | No |
ClinGen gnomAD |
|
|
COSM3698038 rs1314014216 CA370121941 |
512 | Q>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| rs1563372463 | 513 | Q>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1357728795 CA370121918 |
514 | L>F | No |
ClinGen TOPMed |
|
|
rs1206439635 CA370121903 |
515 | A>G | No |
ClinGen gnomAD |
|
|
CA370121909 rs1563372407 |
515 | A>T | No |
ClinGen Ensembl |
|
|
rs1585055689 CA370121888 |
516 | Q>P | No |
ClinGen Ensembl |
|
|
rs1214304277 CA370121859 |
518 | Q>H | No |
ClinGen TOPMed |
|
|
rs878889969 CA169297996 |
518 | Q>L | No |
ClinGen TOPMed |
|
|
rs878889969 CA169298003 |
518 | Q>R | No |
ClinGen TOPMed |
|
|
CA370121818 rs1278918510 |
521 | H>Q | No |
ClinGen TOPMed |
|
|
rs903877419 CA169297991 |
521 | H>R | No |
ClinGen Ensembl |
|
|
CA169297986 rs561221104 |
522 | S>R | No |
ClinGen 1000Genomes |
|
|
rs901813984 CA370121803 |
523 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1585055651 CA370121797 |
523 | L>P | No |
ClinGen Ensembl |
|
|
CA370121802 rs901813984 |
523 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1167170370 CA370121790 |
524 | L>F | No |
ClinGen gnomAD |
|
|
rs201854833 CA4584530 |
524 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370121766 rs1240520030 |
526 | Q>* | No |
ClinGen gnomAD |
|
|
rs1563372327 CA370121756 |
526 | Q>H | No |
ClinGen Ensembl |
|
|
rs1241777900 CA370121672 |
532 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA370121656 rs1212867548 |
533 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA370121655 rs1212867548 |
533 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA370121645 rs1380176365 |
534 | Q>E | No |
ClinGen TOPMed |
|
|
CA370121624 rs903976109 CA169297954 |
535 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1272731278 CA370121610 |
536 | Q>P | No |
ClinGen gnomAD |
|
|
CA370121612 rs1272731278 |
536 | Q>R | No |
ClinGen gnomAD |
|
|
CA370121575 rs1194493006 |
539 | R>C | No |
ClinGen gnomAD |
|
|
CA370121570 rs1344550851 |
539 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA4584525 rs752142850 |
540 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA370121558 rs1585055525 |
540 | M>K | No |
ClinGen Ensembl |
|
|
CA370121563 rs1298633409 |
540 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA370121546 rs1585055509 |
541 | H>P | No |
ClinGen Ensembl |
|
|
rs1380676761 CA370121549 |
541 | H>Y | No |
ClinGen gnomAD |
|
|
rs915713042 CA169297941 |
542 | Q>H | Variant assessed as Somatic; 6.925e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1341042208 CA370121523 |
543 | Q>E | No |
ClinGen gnomAD |
|
|
CA370121483 rs1327902143 |
546 | Q>E | No |
ClinGen gnomAD |
|
|
rs541085546 CA4584524 |
547 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1318875102 CA370121380 |
553 | T>R | No |
ClinGen gnomAD |
|
| TCGA novel | 554 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866998701 CA169297923 |
554 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1183160232 CA370121359 |
555 | P>S | No |
ClinGen gnomAD |
|
|
rs759033816 CA370121340 |
556 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1563372157 CA370121346 |
556 | H>R | No |
ClinGen Ensembl |
|
|
CA169297901 rs938558453 |
560 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs371001622 CA4584520 |
560 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs928540239 CA169297895 |
561 | S>P | No |
ClinGen Ensembl |
|
|
rs1055680929 CA370121251 |
563 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1055680929 CA169297890 |
563 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 565 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761082330 CA4584518 |
566 | H>Y | No |
ClinGen ExAC |
|
|
CA4584517 rs773716894 |
568 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 571 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1407706519 CA370121138 |
572 | Q>E | No |
ClinGen gnomAD |
|
|
rs868021760 CA169297869 CA370121129 |
572 | Q>H | No |
ClinGen gnomAD |
|
|
rs1352102752 CA370121133 |
572 | Q>R | No |
ClinGen gnomAD |
|
|
rs745946971 CA4584516 |
574 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA169297864 rs745946971 |
574 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA169297866 rs982741915 |
574 | P>S | No |
ClinGen Ensembl |
|
|
CA169297852 rs919612577 |
582 | P>L | No |
ClinGen Ensembl |
|
|
rs909004465 CA169297849 |
583 | P>L | No |
ClinGen TOPMed |
|
|
rs1202237014 CA370120956 |
587 | Q>P | No |
ClinGen TOPMed |
|
|
rs985358307 CA169297839 |
590 | Q>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 592 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199207720 CA370120886 |
592 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA169297836 rs953539835 |
594 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 596 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370120823 rs1168121765 |
597 | A>V | No |
ClinGen TOPMed |
|
|
CA370120818 rs1316428632 |
598 | V>L | No |
ClinGen gnomAD |
|
|
rs1316428632 CA370120821 |
598 | V>M | No |
ClinGen gnomAD |
|
|
CA370120800 rs1283391036 |
599 | E>D | No |
ClinGen gnomAD |
|
|
rs1186381279 CA370120764 |
601 | P>S | No |
ClinGen gnomAD |
|
|
rs755340131 CA4584506 |
601 | P>ST* | No |
ClinGen ExAC gnomAD |
|
|
rs777555994 CA4584504 |
604 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA370120721 rs1303219651 |
607 | L>S | No |
ClinGen gnomAD |
|
|
rs754488882 CA370120682 |
613 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754488882 CA4584500 |
613 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753309236 CA4584499 |
614 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA370120639 rs1248901636 |
619 | Q>R | No |
ClinGen TOPMed |
|
|
CA4584496 rs750160335 |
620 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372746485 CA4584497 |
620 | M>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4584495 rs767991932 |
625 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs762311067 CA4584494 |
626 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4584493 rs774901613 |
627 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA169297577 rs895172802 |
627 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 630 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370120542 rs1242033544 |
632 | I>L | No |
ClinGen gnomAD |
|
|
rs1314098140 CA370120518 |
635 | A>T | No |
ClinGen gnomAD |
|
|
rs948987245 CA169296014 |
635 | A>V | No |
ClinGen Ensembl |
|
|
CA370120511 rs1355623292 |
636 | H>R | No |
ClinGen TOPMed |
|
|
rs1310297300 CA370120477 |
641 | D>E | No |
ClinGen gnomAD |
|
|
rs1458364124 CA370120474 |
642 | P>A | No |
ClinGen gnomAD |
|
|
rs751904682 CA4584475 |
644 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs749620101 CA169296001 |
645 | T>S | No |
ClinGen Ensembl |
|
|
CA4584473 rs763378535 |
646 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA4584472 rs776120165 |
647 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs199914099 CA4584471 |
649 | T>S | No |
ClinGen 1000Genomes ExAC |
|
|
CA4584469 rs776809920 |
650 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1472262249 CA370120418 |
651 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 654 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1166610405 CA370120376 |
657 | V>L | No |
ClinGen gnomAD |
|
|
rs940066349 CA169295987 |
660 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs761627398 CA4584467 |
660 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1186137280 CA370120345 |
661 | Y>F | No |
ClinGen TOPMed |
|
|
rs1209686425 CA370120303 |
665 | I>M | No |
ClinGen gnomAD |
|
|
CA4584447 rs200719975 |
665 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 676 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370120202 rs1198994256 |
679 | T>I | No |
ClinGen TOPMed |
|
|
CA370120151 rs1585048985 |
686 | M>R | No |
ClinGen Ensembl |
|
|
CA370120155 rs1231349374 |
686 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA370120143 rs1273509189 |
687 | V>A | No |
ClinGen gnomAD |
|
|
rs371102762 CA169295510 |
688 | P>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA370120141 rs371102762 |
688 | P>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1437753030 CA370120131 |
689 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 689 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370120122 rs1294907621 |
691 | R>* | No |
ClinGen gnomAD |
|
|
rs368900156 CA169295500 |
691 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1042739638 CA169295496 |
693 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 697 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753654243 CA4584443 |
699 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs770528483 CA4584441 |
701 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 701 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777518480 CA4584439 |
708 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA370119980 rs906874949 |
711 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA169295195 rs906874949 |
711 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4584423 rs373967152 |
712 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA370119961 rs1251275873 |
714 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 718 | D>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1203281903 CA370119937 |
718 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1376677181 CA370119923 |
719 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs770313182 CA4584422 |
719 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs746575731 CA4584421 |
722 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA370119887 rs1199105200 |
725 | K>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 727 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1355488792 CA370119854 |
729 | Y>S | No |
ClinGen gnomAD |
|
|
rs1220921578 CA370119812 |
735 | Y>C | No |
ClinGen TOPMed |
|
|
rs1372066838 CA370119778 |
740 | C>F | No |
ClinGen gnomAD |
|
|
TCGA novel CA370119773 rs1585048092 |
741 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs779262380 CA4584417 |
741 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755403460 CA4584416 |
743 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4584415 rs749765172 |
745 | V>I | No |
ClinGen ExAC |
|
|
rs756100419 CA4584413 |
747 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs999515106 CA169295170 |
749 | K>Q | No |
ClinGen Ensembl |
|
|
rs1257281083 CA370119692 |
751 | P>R | No |
ClinGen TOPMed |
|
|
rs77742226 CA169294974 |
756 | Y>S | No |
ClinGen Ensembl |
|
|
CA370119653 rs1585047620 |
757 | E>A | No |
ClinGen Ensembl |
|
|
CA370119655 rs1563367189 |
757 | E>Q | No |
ClinGen Ensembl |
|
|
CA370119630 rs1585047614 |
760 | K>R | No |
ClinGen Ensembl |
|
|
CA370119625 rs1409150194 |
761 | E>Q | No |
ClinGen gnomAD |
|
|
CA370119605 rs1462393975 |
763 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
CA370119588 rs1388607180 |
766 | C>R | No |
ClinGen gnomAD |
|
|
rs1330677087 CA370119570 |
768 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs771422721 CA169294964 |
769 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1190820002 CA370119563 |
769 | A>V | No |
ClinGen gnomAD |
|
|
CA370119551 rs1477201947 |
771 | W>* | No |
ClinGen gnomAD |
|
|
CA4584395 rs756652165 |
773 | G>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 774 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757475624 CA4584392 |
780 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4584393 rs61752006 |
780 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4584391 rs751796684 |
784 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA4584389 rs201550723 |
785 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370119454 rs376757936 |
786 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4584387 rs376757936 |
786 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370260528 CA4584388 |
786 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4584386 rs760674555 |
789 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA4584385 rs750385990 |
790 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766983449 CA4584384 |
790 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs761362927 CA4584383 |
792 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs866233500 CA169294920 |
801 | A>V | No |
ClinGen Ensembl |
|
|
rs1247276765 CA370119327 |
805 | H>Y | No |
ClinGen gnomAD |
|
|
CA370119320 rs1186578328 |
806 | L>V | No |
ClinGen gnomAD |
|
|
rs1466251071 CA370119301 |
809 | N>H | No |
ClinGen gnomAD |
|
|
rs775940204 CA4584379 |
809 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1261058958 CA370119297 |
809 | N>S | No |
ClinGen gnomAD |
|
|
rs770118861 CA4584378 |
810 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA370119281 rs1363816453 |
812 | D>H | No |
ClinGen gnomAD |
|
|
rs1363816453 CA370119282 |
812 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 813 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370119245 rs1313939473 |
815 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4584359 rs770160288 |
816 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA169294469 rs930557870 |
818 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA370119211 rs1368997916 |
820 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 823 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370119183 rs1250715144 |
824 | L>F | No |
ClinGen TOPMed |
|
|
CA370119177 rs1462586479 |
825 | L>F | No |
ClinGen gnomAD |
|
|
rs61752005 CA4584358 |
825 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1375585237 CA370119172 |
826 | M>T | No |
ClinGen gnomAD |
|
|
rs1336834695 CA370119176 |
826 | M>V | No |
ClinGen TOPMed |
|
|
rs1472145416 CA370118959 |
827 | S>N | No |
ClinGen gnomAD |
|
|
CA169286367 rs565335152 |
828 | I>V | No |
ClinGen gnomAD |
|
|
rs1400836384 CA370118948 |
829 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 830 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA169286358 rs1025324338 |
831 | P>L | No |
ClinGen TOPMed |
|
|
CA4584341 rs764823046 |
831 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370118922 rs1180697759 |
833 | K>R | No |
ClinGen gnomAD |
|
|
CA370118918 rs1207599578 |
834 | L>M | No |
ClinGen gnomAD |
|
|
CA370118915 rs1470181149 |
834 | L>P | No |
ClinGen gnomAD |
|
|
rs878877292 CA169286356 |
836 | Q>R | No |
ClinGen Ensembl |
|
|
rs1228276434 CA370118893 |
837 | N>T | No |
ClinGen TOPMed |
|
|
rs1274381628 CA370118874 |
840 | A>S | No |
ClinGen gnomAD |
|
|
rs1274381628 CA370118876 |
840 | A>T | No |
ClinGen gnomAD |
|
|
CA370118837 rs1262941040 |
845 | S>F | No |
ClinGen gnomAD |
|
|
rs1247687000 CA370118771 |
853 | D>G | No |
ClinGen gnomAD |
|
|
CA4584328 rs771844847 |
854 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4584327 rs746913477 |
855 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1434238525 CA370118725 |
860 | K>N | No |
ClinGen gnomAD |
|
|
rs777740237 CA4584326 |
863 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4584325 rs757880006 |
864 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1585042396 CA370118693 |
866 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 867 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA169285550 rs938845040 |
869 | V>A | No |
ClinGen gnomAD |
|
|
rs570459321 CA4584322 |
869 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1585042379 CA370118652 |
872 | T>N | No |
ClinGen Ensembl |
|
|
CA370118636 COSM1219396 rs368651251 |
874 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA370118633 COSM3431406 rs1448154373 |
875 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA4584320 rs766846983 |
877 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1194264628 CA370118612 |
878 | Q>R | No |
ClinGen gnomAD |
|
|
CA169285529 rs928845973 |
881 | Q>E | No |
ClinGen Ensembl |
|
|
rs983439074 CA169285524 |
883 | I>V | No |
ClinGen Ensembl |
|
|
CA370118222 rs1472796666 |
887 | Y>C | No |
ClinGen gnomAD |
|
|
CA4584305 rs141135167 |
888 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA370118216 rs1190574141 |
888 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4584304 rs754584430 |
889 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA169285125 rs911216030 |
889 | L>V | No |
ClinGen TOPMed |
|
|
rs1439640684 CA370118204 |
890 | G>D | No |
ClinGen gnomAD |
|
|
CA370118198 rs1319547626 |
891 | G>E | No |
ClinGen gnomAD |
|
|
CA4584300 rs750820480 |
893 | V>I | No |
ClinGen ExAC gnomAD |
|
|
COSM1568492 CA4584299 rs768008816 |
894 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4584294 rs374064096 |
905 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA169285083 rs977627684 |
906 | S>R | No |
ClinGen TOPMed |
|
|
rs1386362677 CA370118088 |
907 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4584293 rs770038210 |
908 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs760398394 CA4584292 |
910 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771963015 CA4584290 |
912 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 914 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1058838 CA169285065 |
916 | T>A | No |
ClinGen Ensembl |
|
|
COSM1219390 CA4584289 rs376285113 |
916 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs184628382 CA4584286 |
920 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4584284 rs755840208 |
921 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs958645239 CA169285029 |
922 | K>R | No |
ClinGen TOPMed |
|
|
CA370117989 rs1177985654 |
924 | I>V | No |
ClinGen TOPMed |
|
|
CA370117979 rs1407578841 |
925 | V>A | No |
ClinGen TOPMed |
|
|
CA4584283 COSM220658 rs750146450 |
926 | T>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA370117971 rs1221684256 |
927 | P>S | No |
ClinGen gnomAD |
|
|
rs1375136641 CA370117965 |
928 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 929 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 929 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4584282 rs78770148 |
931 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 932 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4584281 rs757677664 |
933 | C>S | No |
ClinGen ExAC |
|
|
rs374966492 CA169284999 |
934 | F>I | No |
ClinGen ESP TOPMed |
|
|
CA370117909 rs1435169841 |
935 | R>S | No |
ClinGen gnomAD |
|
|
rs1369335321 CA370117906 |
936 | C>G | No |
ClinGen gnomAD |
|
|
CA370117901 rs751984379 |
936 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1328528296 CA370117904 |
936 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs565982102 CA370117886 |
938 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1585041154 CA370117883 |
939 | F>V | No |
ClinGen Ensembl |
|
|
rs1585033727 CA370117817 |
944 | N>K | No |
ClinGen Ensembl |
|
|
CA4584263 rs368586362 |
946 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778190585 CA4584262 |
950 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 951 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758922356 CA4584261 |
952 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 956 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA169281674 rs960147483 |
956 | F>S | No |
ClinGen TOPMed |
|
|
rs1585033681 CA370117690 |
963 | S>Y | No |
ClinGen Ensembl |
|
|
CA370117679 rs1184488565 |
965 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA370117668 rs1242544250 |
966 | R>Q | No |
ClinGen gnomAD |
|
|
CA370117671 rs1211359069 COSM3698289 |
966 | R>W | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs753986026 CA4584257 |
969 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370117637 rs1281785903 |
971 | P>L | No |
ClinGen gnomAD |
|
|
CA4584244 rs778100830 |
975 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1394410737 CA370117452 |
982 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 983 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4584242 rs748626037 |
985 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA370117434 rs1463439193 |
985 | C>Y | No |
ClinGen gnomAD |
|
|
rs779445797 CA4584241 |
988 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs754964854 CA4584240 |
991 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753956808 CA4584239 |
994 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs750740629 CA4584236 |
995 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1563358065 CA370117367 |
996 | E>Q | No |
ClinGen Ensembl |
|
|
CA370117362 rs1200981658 |
996 | E>V | No |
ClinGen TOPMed |
|
| TCGA novel | 1000 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1001 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370117311 rs1480835736 |
1004 | S>P | No |
ClinGen gnomAD |
|
|
CA370117272 rs1418189948 |
1009 | F>L | No |
ClinGen gnomAD |
|
|
rs762887463 CA4584234 |
1010 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763947571 CA4584235 |
1010 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775515966 CA4584233 |
1012 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs3501 CA4584231 |
1013 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_034627 rs3501 CA4584230 |
1013 | M>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4584229 rs770407366 |
1014 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4584228 rs760374133 COSM1087754 |
1017 | Q>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA370117211 rs1370952111 |
1018 | N>K | No |
ClinGen TOPMed |
|
|
CA4584227 rs772893135 |
1018 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772405233 CA4584226 |
1019 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4584208 rs369541196 |
1022 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1022 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774684247 CA4584206 |
1023 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4584204 rs749770706 |
1026 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780471773 CA4584203 |
1030 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1236632056 CA370117091 |
1034 | H>Q | No |
ClinGen gnomAD |
|
|
CA169280514 rs867060120 |
1034 | H>R | No |
ClinGen Ensembl |
|
|
CA4584200 rs745971788 |
1037 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA370117069 rs1226673230 |
1038 | E>Q | No |
ClinGen gnomAD |
|
|
rs376214339 CA4584198 |
1043 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1382410799 CA370117033 |
1043 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1044 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1044 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747206562 CA4584178 |
1045 | D>V | No |
ClinGen ExAC |
|
|
CA370117002 rs1399299303 |
1046 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA4584177 rs777906795 |
1048 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA370116977 rs1264492495 |
1049 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1354521854 CA370116981 |
1049 | A>T | No |
ClinGen TOPMed |
|
|
rs1416218358 CA370116975 |
1050 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201394375 CA4584175 |
1052 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1232347108 CA370116939 |
1055 | G>E | No |
ClinGen gnomAD |
|
|
rs779976449 CA4584174 |
1060 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4584159 rs773444031 |
1066 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA169278547 rs1030879694 |
1067 | K>R | No |
ClinGen TOPMed |
|
|
CA370116829 rs1323116545 |
1069 | N>D | No |
ClinGen Ensembl |
|
| TCGA novel | 1070 | N>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q6ZW49
6 regional properties for Q6ZW49
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | BRCT domain | 8 - 93 | IPR001357-1 |
| domain | BRCT domain | 94 - 183 | IPR001357-2 |
| domain | BRCT domain | 601 - 694 | IPR001357-3 |
| domain | BRCT domain | 703 - 779 | IPR001357-4 |
| domain | BRCT domain | 858 - 947 | IPR001357-5 |
| domain | BRCT domain | 970 - 1059 | IPR001357-6 |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromosome | A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. |
| histone methyltransferase complex | A multimeric complex that is able to catalyze the addition of methyl groups to histone proteins. |
| MLL3/4 complex | A protein complex that can methylate lysine-4 of histone H3, and which contains either of the protein subunits MLL3 or MLL4 in mammals, or equivalent in other species. |
| nuclear matrix | The dense fibrillar network lying on the inner side of the nuclear membrane. |
| 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. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
19 GO annotations of biological process
| Name | Definition |
|---|---|
| adipose tissue development | The process whose specific outcome is the progression of adipose tissue over time, from its formation to the mature structure. Adipose tissue is specialized tissue that is used to store fat. |
| chorion development | The biological process whose specific outcome is the progression of a chorion from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure. The chorion is an extraembryonic membrane. |
| DNA damage response, signal transduction by p53 class mediator | A cascade of processes induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage. |
| DNA recombination | Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction. |
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| endothelial cell migration | The orderly movement of an endothelial cell into the extracellular matrix to form an endothelium. |
| histone H3-K4 methylation | The modification of histone H3 by addition of one or more methyl groups to lysine at position 4 of the histone. |
| negative regulation of DNA-binding transcription factor activity | Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription. |
| positive regulation of histone acetylation | Any process that activates or increases the frequency, rate or extent of the addition of an acetyl group to a histone protein. |
| positive regulation of histone H3-K36 methylation | Any process that activates or increases the frequency, rate or extent of the covalent addition of a methyl group to the lysine at position 36 of histone H3. |
| positive regulation of histone H3-K4 methylation | Any process that activates or increases the frequency, rate or extent of the covalent addition of a methyl group to the lysine at position 4 of histone H3. |
| positive regulation of isotype switching | Any process that activates or increases the frequency, rate or extent of isotype switching. |
| positive regulation of isotype switching to IgG isotypes | Any process that activates or increases the frequency, rate or extent of isotype switching to IgG isotypes. |
| positive regulation of protein ubiquitination | Any process that activates or increases the frequency, rate or extent of the addition of ubiquitin groups to a protein. |
| positive regulation of response to DNA damage stimulus | Any process that activates or increases the frequency, rate or extent of response to DNA damage stimulus. |
| positive regulation of transcription initiation by RNA polymerase II | Any process that increases the rate, frequency or extent of a process involved in starting transcription from an RNA polymerase II promoter. |
| regulation of cell cycle G2/M phase transition | Any signalling pathway that modulates the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G2 phase to M phase of the cell cycle. |
| response to ionizing radiation | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a ionizing radiation stimulus. Ionizing radiation is radiation with sufficient energy to remove electrons from atoms and may arise from spontaneous decay of unstable isotopes, resulting in alpha and beta particles and gamma rays. Ionizing radiation also includes X-rays. |
| vasculogenesis | The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSDQAPKVPE | EMFREVKYYA | VGDIDPQVIQ | LLKAGKAKEV | SYNALASHII | SEDGDNPEVG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EAREVFDLPV | VKPSWVILSV | QCGTLLPVNG | FSPESCQIFF | GITACLSQVS | SEDRSALWAL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VTFYGGDCQL | TLNKKCTHLI | VPEPKGEKYE | CALKRASIKI | VTPDWVLDCV | SEKTKKDEAF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YHPRLIIYEE | EEEEEEEEEE | VENEEQDSQN | EGSTDEKSSP | ASSQEGSPSG | DQQFSPKSNT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EKSKGELMFD | DSSDSSPEKQ | ERNLNWTPAE | VPQLAAAKRR | LPQGKEPGLI | NLCANVPPVP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GNILPPEVRG | NLMAAGQNLQ | SSERSEMIAT | WSPAVRTLRN | ITNNADIQQM | NRPSNVAHIL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QTLSAPTKNL | EQQVNHSQQG | HTNANAVLFS | QVKVTPETHM | LQQQQQAQQQ | QQQHPVLHLQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PQQIMQLQQQ | QQQQISQQPY | PQQPPHPFSQ | QQQQQQQAHP | HQFSQQQLQF | PQQQLHPPQQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LHRPQQQLQP | FQQQHALQQQ | FHQLQQHQLQ | QQQLAQLQQQ | HSLLQQQQQQ | QIQQQQLQRM |
| 550 | 560 | 570 | 580 | 590 | 600 |
| HQQQQQQQMQ | SQTAPHLSQT | SQALQHQVPP | QQPPQQQQQQ | QPPPSPQQHQ | LFGHDPAVEI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PEEGFLLGCV | FAIADYPEQM | SDKQLLATWK | RIIQAHGGTV | DPTFTSRCTH | LLCESQVSSA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| YAQAIRERKR | CVTAHWLNTV | LKKKKMVPPH | RALHFPVAFP | PGGKPCSQHI | ISVTGFVDSD |
| 730 | 740 | 750 | 760 | 770 | 780 |
| RDDLKLMAYL | AGAKYTGYLC | RSNTVLICKE | PTGLKYEKAK | EWRIPCVNAQ | WLGDILLGNF |
| 790 | 800 | 810 | 820 | 830 | 840 |
| EALRQIQYSR | YTAFSLQDPF | APTQHLVLNL | LDAWRVPLKV | SAELLMSIRL | PPKLKQNEVA |
| 850 | 860 | 870 | 880 | 890 | 900 |
| NVQPSSKRAR | IEDVPPPTKK | LTPELTPFVL | FTGFEPVQVQ | QYIKKLYILG | GEVAESAQKC |
| 910 | 920 | 930 | 940 | 950 | 960 |
| THLIASKVTR | TVKFLTAISV | VKHIVTPEWL | EECFRCQKFI | DEQNYILRDA | EAEVLFSFSL |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| EESLKRAHVS | PLFKAKYFYI | TPGICPSLST | MKAIVECAGG | KVLSKQPSFR | KLMEHKQNSS |
| 1030 | 1040 | 1050 | 1060 | ||
| LSEIILISCE | NDLHLCREYF | ARGIDVHNAE | FVLTGVLTQT | LDYESYKFN |