Q96KP1
PR
Gene name |
EXOC2 (SEC5, SEC5L1) |
Protein name |
Exocyst complex component 2 |
Names |
Exocyst complex component Sec5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55770 |
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
1 structures for Q96KP1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96KP1-F1 | Predicted | AlphaFoldDB |
644 variants for Q96KP1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs138470165 VAR_085744 CA3613870 |
130 | R>H | Variant assessed as Somatic; 0.0 impact. NEDFACH; unknown pathological significance; no effect on protein abundance [NCI-TCGA, UniProt] | Yes |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD UniProt |
|
COSM1179719 RCV000149250 CA174648 rs145867129 |
414 | R>H | Malignant tumor of prostate Variant assessed as Somatic; 0.0 impact. prostate [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_085745 | 437 | R>del | NEDFACH; decreased protein abundance; shows defective ARL13B cilium membrane localization [UniProt] | Yes | UniProt |
| VAR_085746 | 580 | L>S | NEDFACH; unknown pathological significance; no effect on protein abundance [UniProt] | Yes | UniProt |
|
CA362553593 rs1357029788 |
3 | R>* | No |
ClinGen gnomAD |
|
|
CA3613967 rs779755243 |
3 | R>Q | Variant assessed as Somatic; 4.634e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1202564592 CA362553569 |
7 | P>S | No |
ClinGen TOPMed |
|
|
rs1465638272 CA362553562 |
8 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA362553560 rs1465638272 |
8 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1465638272 CA362553561 |
8 | P>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 9 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs748159069 | 9 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 17 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362553488 rs1182759245 |
19 | I>M | No |
ClinGen gnomAD |
|
|
rs755662078 CA133321109 |
22 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs763781972 CA3613960 |
24 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA362553459 rs763781972 |
24 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA362553449 rs1469224261 |
25 | T>I | No |
ClinGen TOPMed |
|
|
CA3613959 rs760715821 |
26 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1306798587 CA362553435 |
28 | G>R | No |
ClinGen gnomAD |
|
|
rs1290546330 CA362553417 |
30 | N>S | No |
ClinGen gnomAD |
|
|
rs1376716429 CA362553401 |
33 | T>A | No |
ClinGen gnomAD |
|
|
CA362553378 rs1447755540 |
37 | D>N | No |
ClinGen gnomAD |
|
|
CA3613955 rs371938973 |
38 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA133317098 rs930096738 |
42 | T>N | No |
ClinGen gnomAD |
|
|
rs748791251 CA3613925 |
43 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362552632 rs1192817981 |
44 | C>G | No |
ClinGen gnomAD |
|
|
CA3613924 rs777312033 |
46 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133317053 rs769560875 |
49 | L>F | No |
ClinGen Ensembl |
|
|
rs755697381 COSM1080911 CA362552557 |
51 | T>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs755697381 CA3613923 |
51 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 53 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3613921 rs551076085 |
53 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA3613919 rs751469728 |
54 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362552538 rs1302826216 |
54 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA3613920 rs754960039 |
54 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs766303730 CA3613918 |
57 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs758433964 CA3613917 |
59 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs750463501 CA3613916 |
61 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1362909125 CA362552479 |
63 | R>* | No |
ClinGen gnomAD |
|
|
rs765377531 CA3613915 |
66 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1453370625 CA362552444 |
68 | K>N | No |
ClinGen gnomAD |
|
|
CA3613912 rs764529892 |
70 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA3613914 rs754310048 |
70 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA362552432 rs764529892 |
70 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA3613913 rs754310048 |
70 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1479517377 CA362552421 |
72 | G>R | No |
ClinGen gnomAD |
|
|
CA133316973 rs144999590 |
73 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs761303068 CA3613911 |
74 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA133316970 rs775317221 |
77 | T>A | No |
ClinGen Ensembl |
|
|
rs527853565 CA3613910 |
79 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs375961643 CA3613908 |
79 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769597411 CA3613909 |
79 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362552368 rs745696197 |
80 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA133316934 rs745696197 |
80 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs772775894 CA3613907 |
81 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA133316927 rs772775894 |
81 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 83 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1201157287 CA362552343 |
85 | T>A | No |
ClinGen gnomAD |
|
|
CA3613904 rs377485078 |
89 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1561950015 CA362552303 |
91 | K>R | No |
ClinGen Ensembl |
|
|
CA133316882 rs947716896 |
93 | L>H | No |
ClinGen gnomAD |
|
|
CA3613903 rs768473940 |
94 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA362552231 rs1458484225 |
100 | I>T | No |
ClinGen TOPMed |
|
|
rs745798910 CA3613881 |
104 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs771964720 CA3613882 |
104 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs973133817 CA133314953 |
105 | A>T | No |
ClinGen TOPMed |
|
|
CA362552195 rs1238432006 |
106 | V>L | No |
ClinGen gnomAD |
|
|
rs1238432006 CA362552196 |
106 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 107 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1046638395 CA133314940 |
108 | V>I | No |
ClinGen gnomAD |
|
|
CA362552170 rs1254647584 |
109 | D>E | No |
ClinGen TOPMed |
|
|
rs1013752210 CA133314922 |
111 | M>I | No |
ClinGen gnomAD |
|
|
CA362552159 rs1421592420 |
111 | M>V | No |
ClinGen TOPMed |
|
|
rs964368049 CA133314909 |
115 | D>G | No |
ClinGen TOPMed |
|
|
rs964368049 CA362552124 |
115 | D>V | No |
ClinGen TOPMed |
|
|
rs527706692 CA3613878 |
116 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3613879 rs766475868 |
116 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA362552112 rs1168081875 |
117 | R>C | No |
ClinGen TOPMed |
|
|
rs778155454 COSM1080906 CA3613877 |
117 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs753061528 CA3613875 |
120 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs767900663 CA3613874 |
125 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA362552048 rs1581590005 |
127 | L>V | No |
ClinGen Ensembl |
|
|
rs752136385 CA3613871 |
130 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752136385 CA133314850 |
130 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs561661050 CA133314803 |
132 | A>G | No |
ClinGen Ensembl |
|
|
CA362552019 rs1380462482 |
132 | A>P | No |
ClinGen gnomAD |
|
|
CA362552015 rs776048205 |
133 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs776048205 CA3613868 |
133 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA3613866 rs760365995 |
134 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362551997 rs1247624576 |
136 | G>S | No |
ClinGen gnomAD |
|
|
rs1271717205 CA362551970 |
139 | I>M | No |
ClinGen gnomAD |
|
|
CA362551968 rs1319082061 |
140 | E>Q | No |
ClinGen TOPMed |
|
|
CA3613848 rs376537041 |
145 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362550619 rs1346042226 |
146 | Q>R | No |
ClinGen gnomAD |
|
|
rs767030059 CA3613846 |
148 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362550568 rs1285458613 |
148 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 150 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1371713486 CA362550469 |
153 | F>I | No |
ClinGen TOPMed |
|
|
CA3613842 rs372908612 |
154 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA362550393 rs1325418585 |
156 | M>L | No |
ClinGen gnomAD |
|
|
rs773465394 CA3613841 |
157 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs769947543 CA3613840 |
157 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA362550261 rs1344645172 |
161 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs748125880 CA3613839 |
167 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA362550131 rs1420876209 |
168 | A>T | No |
ClinGen gnomAD |
|
|
rs572181971 CA3613837 |
169 | W>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs372102008 CA3613836 |
170 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142709820 CA3613835 |
172 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758957020 CA3613834 |
173 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 174 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362550029 rs1278288273 |
178 | T>A | No |
ClinGen TOPMed |
|
|
CA362549844 rs1440731863 |
182 | Q>E | No |
ClinGen gnomAD |
|
|
rs772460300 CA3613816 |
182 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA3613815 rs151192784 |
184 | K>R | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA3613814 rs151192784 |
184 | K>T | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1426947201 CA362549812 |
186 | A>G | No |
ClinGen gnomAD |
|
|
CA362549794 rs1419719325 |
189 | N>S | No |
ClinGen gnomAD |
|
|
CA3613811 rs374782306 |
191 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA133305954 rs754717150 |
192 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA3613810 rs754717150 |
192 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1480236460 CA362549765 |
194 | A>T | No |
ClinGen gnomAD |
|
|
rs35600069 CA3613809 |
195 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs35600069 VAR_048956 CA133305949 |
195 | N>T | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
CA362549724 rs1489804870 |
199 | E>V | No |
ClinGen gnomAD |
|
| TCGA novel | 200 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3613807 rs762853066 |
201 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1195016298 CA362549712 |
201 | S>T | No |
ClinGen gnomAD |
|
|
rs1304302822 CA362549701 |
203 | A>S | No |
ClinGen gnomAD |
|
|
rs765281897 CA362549691 |
204 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362549664 rs1581566596 |
208 | G>V | No |
ClinGen Ensembl |
|
|
CA362549657 rs1407127628 |
210 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA362549626 COSM1205805 rs1270299071 |
214 | E>K | large_intestine haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA3613800 rs775714723 |
215 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217172203 CA362549601 |
217 | D>V | No |
ClinGen TOPMed |
|
|
CA362549593 rs1280262467 |
218 | A>V | No |
ClinGen TOPMed |
|
|
rs1156929773 CA362549584 |
220 | S>T | No |
ClinGen gnomAD |
|
|
CA133299237 rs985841118 |
221 | A>G | No |
ClinGen TOPMed |
|
|
rs1264525250 CA362547884 |
222 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA362547841 rs1201247659 |
228 | A>T | No |
ClinGen gnomAD |
|
|
CA3613778 rs532600828 |
228 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771230697 CA3613777 |
231 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1027410967 CA133299224 |
233 | K>E | No |
ClinGen Ensembl |
|
|
CA362547789 rs1293660236 |
235 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs201467547 CA3613776 |
239 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3613774 rs560487298 |
241 | K>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs540219472 CA3613773 |
243 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3613772 rs779694022 |
244 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA362547690 rs1168443821 |
245 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 246 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374724249 CA3613746 |
248 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1561908689 CA362557850 |
248 | R>S | No |
ClinGen Ensembl |
|
|
CA3613745 rs752600865 |
250 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 253 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3613743 rs755026183 |
259 | E>K | No |
ClinGen ExAC |
|
|
CA133349577 rs1026727745 |
261 | L>* | No |
ClinGen Ensembl |
|
|
CA133349574 rs994409853 |
263 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3613741 rs766575252 |
263 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 268 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362557687 rs961203265 |
272 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA362557690 rs1300897671 |
272 | N>S | No |
ClinGen gnomAD |
|
|
rs1159219346 CA362557668 |
275 | N>K | No |
ClinGen TOPMed |
|
|
CA3613740 rs546405871 |
275 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362557656 rs1385235457 |
277 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 278 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1159727574 CA362557652 |
278 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA362557645 rs1468180842 |
279 | R>P | No |
ClinGen gnomAD |
|
| TCGA novel | 279 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1410331089 CA362557633 |
281 | K>E | No |
ClinGen gnomAD |
|
|
rs1271581483 CA362557600 |
285 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1271581483 CA362557601 |
285 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA362557591 rs1350692585 |
286 | L>R | No |
ClinGen TOPMed |
|
|
rs1379275579 CA362557577 |
289 | N>H | No |
ClinGen TOPMed |
|
|
CA362557564 rs1448132261 |
291 | E>* | No |
ClinGen TOPMed |
|
|
CA362557551 rs1451188988 |
292 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 293 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3613738 rs765662115 |
293 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1206925729 CA362557522 |
296 | K>R | No |
ClinGen gnomAD |
|
|
rs1325511805 CA362557498 |
298 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA362557501 rs1340341663 |
298 | D>H | No |
ClinGen TOPMed |
|
|
rs867363879 CA133349480 |
301 | V>L | No |
ClinGen Ensembl |
|
| TCGA novel | 305 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs949176155 CA133349478 |
305 | D>H | No |
ClinGen TOPMed |
|
|
COSM3745322 rs1218374557 CA362557418 |
309 | A>G | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs762286317 CA3613716 |
312 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA362557399 rs1561908028 |
312 | L>H | No |
ClinGen Ensembl |
|
|
CA362557369 rs1561908008 |
316 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1336743537 CA362557358 |
318 | V>L | No |
ClinGen gnomAD |
|
|
rs1336743537 CA362557360 |
318 | V>M | No |
ClinGen gnomAD |
|
|
rs1408878788 CA362557329 |
322 | K>R | No |
ClinGen gnomAD |
|
|
rs756621504 CA362557291 |
325 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3613694 rs753280804 |
326 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA362557276 rs1411796483 |
328 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA362557261 rs1470435608 |
330 | T>A | No |
ClinGen gnomAD |
|
|
rs1234563679 CA362557254 |
331 | R>K | No |
ClinGen gnomAD |
|
|
rs35770122 CA362557236 |
333 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3613691 rs772704981 |
333 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3613689 rs761429763 |
334 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746729900 CA3613686 |
336 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3613687 rs746729900 |
336 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446651516 CA362557218 |
337 | E>K | No |
ClinGen TOPMed |
|
|
rs775513296 CA3613685 |
342 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA362557171 rs1364472242 |
343 | L>F | No |
ClinGen gnomAD |
|
|
rs772070113 CA3613684 |
344 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA3613681 rs779126321 |
349 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs749495856 CA3613679 |
350 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs560802146 CA3613680 |
350 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3613678 rs777820199 |
351 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362557127 rs1379508887 |
351 | H>Y | No |
ClinGen TOPMed |
|
|
rs756524921 CA3613677 |
355 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA133349094 rs944019083 |
355 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1320715369 CA362557085 |
357 | I>V | No |
ClinGen TOPMed |
|
|
CA362557024 rs1262045812 |
364 | H>Y | No |
ClinGen gnomAD |
|
|
CA133345739 rs931089182 COSM178015 |
365 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs781514513 CA3613657 |
366 | S>F | No |
ClinGen ExAC |
|
|
CA3613656 rs755515654 |
367 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1207569328 CA362557007 |
367 | G>S | No |
ClinGen gnomAD |
|
|
rs756801890 CA3613653 |
374 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362556944 COSM1445209 rs1300845065 |
376 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1224460122 CA362556929 |
378 | H>L | No |
ClinGen gnomAD |
|
|
rs751179549 CA133345722 |
380 | W>* | No |
ClinGen Ensembl |
|
| TCGA novel | 381 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1367640952 CA362556879 |
385 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA362556877 rs1364152855 |
385 | M>T | No |
ClinGen TOPMed |
|
|
rs1367640952 CA362556880 |
385 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA133345680 rs762460669 |
386 | H>R | No |
ClinGen Ensembl |
|
|
rs1434501936 CA362556846 |
389 | K>T | No |
ClinGen gnomAD |
|
|
CA362556833 rs1338675367 |
391 | G>S | No |
ClinGen gnomAD |
|
|
CA3613650 rs760235973 |
392 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3613648 rs767390731 |
393 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1387938658 CA362556809 |
394 | K>N | No |
ClinGen gnomAD |
|
|
rs759366249 CA3613647 |
395 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA362554719 rs1242702364 |
399 | N>K | No |
ClinGen gnomAD |
|
|
CA3613624 rs765260713 |
399 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1307681542 CA362554693 |
403 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1326086891 CA362554688 |
404 | S>T | No |
ClinGen gnomAD |
|
|
CA3613621 rs768797315 |
406 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3613622 CA3613623 rs776849375 |
406 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA362554678 rs776849375 |
406 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA3613620 rs747444200 |
408 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3613619 rs775821259 |
409 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA362554653 rs1581476188 |
410 | D>N | No |
ClinGen Ensembl |
|
|
CA133330924 rs1030211335 |
411 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA362554636 rs1281848288 |
412 | D>Y | No |
ClinGen gnomAD |
|
|
CA3613618 rs138491202 |
413 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1048821721 CA133330904 |
414 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA133330864 rs145867129 |
414 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362554620 rs1473774172 |
415 | P>S | No |
ClinGen gnomAD |
|
|
CA3613617 rs779436571 |
416 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA362554607 rs1292326644 |
417 | V>A | No |
ClinGen gnomAD |
|
|
CA362554609 rs1490554958 |
417 | V>L | No |
ClinGen gnomAD |
|
|
rs755602807 CA3613616 |
419 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362554597 rs1302731105 |
419 | G>S | No |
ClinGen TOPMed |
|
|
CA362554590 rs1215793460 |
420 | H>L | No |
ClinGen TOPMed |
|
| TCGA novel | 420 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747605501 CA3613615 |
422 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3613613 rs754663525 |
423 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA3613609 rs563095350 |
425 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3613610 rs563095350 |
425 | A>V | Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA362554551 rs1321229976 |
426 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 427 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776685289 CA3613606 |
427 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA3613607 rs761884075 |
427 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1010093858 CA133330775 |
429 | R>G | No |
ClinGen TOPMed |
|
|
CA362554528 rs1581475891 |
430 | G>A | No |
ClinGen Ensembl |
|
|
rs1410402605 CA362554521 |
431 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA362554517 rs1158833112 |
432 | S>G | No |
ClinGen gnomAD |
|
|
rs772355029 CA3613602 |
432 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA3613600 rs746195577 |
433 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs146772908 CA3613598 |
434 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3613597 rs747717054 |
435 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA362554495 rs1326944275 |
435 | S>Y | No |
ClinGen gnomAD |
|
|
rs754717014 CA3613595 |
437 | R>* | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs754717014 CA3613596 |
437 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs779704625 CA3613594 |
437 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779704625 CA3613593 |
437 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3613591 rs146558148 COSM280894 |
439 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| TCGA novel | 440 | T>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778780068 CA3613590 |
440 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140985604 CA3613572 |
440 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778749658 CA3613571 |
442 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA3613570 rs150993197 |
442 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756200825 CA3613568 |
443 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756200825 CA3613567 |
443 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3613566 rs752757592 |
444 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA362554430 rs1249671077 |
444 | K>R | No |
ClinGen TOPMed |
|
|
CA362554424 rs1459731199 |
445 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs927797671 CA133322255 |
446 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1261630568 CA362554412 |
447 | H>P | No |
ClinGen gnomAD |
|
|
rs1423128245 CA362554408 |
448 | R>G | No |
ClinGen TOPMed |
|
|
rs1416283200 CA362554396 |
449 | V>G | No |
ClinGen TOPMed |
|
|
CA362554391 rs1388484095 |
450 | A>D | No |
ClinGen TOPMed |
|
|
rs1176919830 CA362554394 |
450 | A>T | No |
ClinGen TOPMed |
|
|
CA3613562 rs141303768 |
456 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM3830907 CA362554289 rs1561872783 |
458 | L>F | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA3613560 rs144473674 |
459 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA133322208 rs905484792 |
462 | Q>* | No |
ClinGen Ensembl |
|
|
rs770354981 CA3613559 |
462 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA362554162 rs1430992187 |
466 | F>L | No |
ClinGen TOPMed |
|
|
CA3613557 rs775050390 |
472 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs771674302 CA3613556 |
473 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778501222 CA3613554 |
474 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770739603 CA3613553 |
477 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA362553819 rs1337302019 |
483 | A>V | No |
ClinGen TOPMed |
|
|
CA3613537 rs767088812 |
485 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1425398952 CA362553790 |
487 | G>A | No |
ClinGen gnomAD |
|
|
CA3613535 rs774010191 |
488 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA362553748 rs1245562210 CA362553747 |
493 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA362553715 rs1461480488 |
498 | R>K | No |
ClinGen gnomAD |
|
|
rs1208810931 CA362553703 |
499 | Q>H | No |
ClinGen gnomAD |
|
|
rs749148749 CA3613533 |
502 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1005165161 CA133314490 |
509 | V>L | No |
ClinGen Ensembl |
|
|
rs1402825580 CA362553346 |
510 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs369042616 CA3613512 |
511 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3613511 rs776635192 |
511 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA362553331 rs1358194577 |
513 | L>M | No |
ClinGen gnomAD |
|
|
rs768469468 CA3613510 |
514 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3613509 rs747141092 |
515 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs772461309 CA3613508 |
518 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772461309 CA3613507 |
518 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202216214 CA3613506 COSM1205807 |
518 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA3613504 rs368593217 |
519 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1482507121 CA362553290 |
520 | A>D | No |
ClinGen gnomAD |
|
|
CA362553275 rs1206213339 |
523 | P>S | No |
ClinGen gnomAD |
|
|
CA3613501 rs139082353 |
527 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA133314428 rs139082353 |
527 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778414700 CA3613502 |
527 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133314418 rs1055135177 |
535 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 536 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362553175 rs1354654639 |
538 | E>Q | No |
ClinGen gnomAD |
|
|
rs1581448033 CA362553163 |
539 | V>G | No |
ClinGen Ensembl |
|
|
CA362553168 rs1308246388 |
539 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA133314400 rs566240727 |
541 | C>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3613498 rs566240727 |
541 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3613496 rs199651728 |
542 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA133314398 rs867072676 |
544 | S>F | No |
ClinGen Ensembl |
|
|
rs776276443 CA3613494 |
545 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA362553106 rs1472405032 |
548 | L>F | No |
ClinGen TOPMed |
|
|
CA362553104 rs1167613235 |
548 | L>P | No |
ClinGen gnomAD |
|
|
CA3613491 rs775530454 |
549 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775530454 CA3613492 |
549 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745887145 CA3613489 |
550 | H>P | No |
ClinGen ExAC |
|
|
rs779200539 CA362553092 |
550 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777980286 CA3613485 |
551 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA3613486 rs138384447 |
551 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362553091 rs138384447 |
551 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3613487 COSM3158857 rs138384447 |
551 | A>T | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs777980286 CA362553089 |
551 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3613484 rs756656627 |
552 | I>L | No |
ClinGen ExAC |
|
|
rs1357190879 CA362553080 |
553 | Q>E | No |
ClinGen gnomAD |
|
|
rs1326651602 CA362553070 |
554 | T>S | No |
ClinGen gnomAD |
|
|
rs529474611 CA3613482 |
556 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3613483 rs529474611 |
556 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA133313812 rs925875068 |
557 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3613453 rs766572562 |
558 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362553031 rs1345578281 |
559 | H>R | No |
ClinGen TOPMed |
|
|
rs766403118 CA3613451 |
560 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1042405017 CA133313772 |
561 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs769995446 CA3613448 |
563 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA362552975 rs1191805544 |
568 | P>A | No |
ClinGen gnomAD |
|
|
CA3613447 rs748566776 |
569 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3613445 rs769190192 |
574 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1283216493 CA362552931 |
574 | T>S | No |
ClinGen gnomAD |
|
|
rs766654746 CA133313729 |
575 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1278021926 CA362552925 |
575 | I>M | No |
ClinGen gnomAD |
|
|
rs766654746 CA3613444 |
575 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs543961073 CA3613443 |
576 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3613442 rs756733431 |
577 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133313719 rs374497902 |
578 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1581446747 CA362552902 |
579 | I>N | No |
ClinGen Ensembl |
|
|
rs558229893 CA3613439 |
581 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs932856819 CA133313714 |
581 | D>N | No |
ClinGen Ensembl |
|
|
rs370825321 CA362552878 |
583 | R>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs974621322 CA133313701 |
583 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1318017125 CA362552875 |
584 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 584 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752593105 COSM1080581 CA3613438 |
585 | R>C | Variant assessed as Somatic; 0.0001848 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA133313693 rs750738330 |
585 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA3613434 rs373563018 |
586 | C>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs377663752 CA3613436 |
586 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3613437 rs377663752 |
586 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs61744205 RCV000884562 CA3613433 |
587 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs61744205 CA362552859 |
587 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139979736 CA3613432 |
588 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765491850 CA3613431 |
590 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1187970884 CA362552837 |
590 | T>M | No |
ClinGen gnomAD |
|
|
CA362552840 rs765491850 |
590 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA362552825 rs1405296297 |
592 | Q>R | No |
ClinGen gnomAD |
|
|
CA133313671 rs950356208 |
593 | H>Y | No |
ClinGen Ensembl |
|
|
CA3613429 rs79862727 |
594 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769028617 CA3613428 |
595 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 598 | I>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764311872 CA3613411 |
600 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3613410 rs761014277 |
603 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA362552707 rs1406950109 |
607 | W>* | No |
ClinGen gnomAD |
|
|
CA362552685 rs1415622116 |
610 | D>G | No |
ClinGen gnomAD |
|
|
rs1163879330 CA362552677 |
611 | N>D | No |
ClinGen gnomAD |
|
|
CA3613409 rs775909803 |
611 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1017759778 CA133312694 |
613 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA362552609 rs1413705712 |
615 | T>I | No |
ClinGen gnomAD |
|
|
CA3613408 rs772505264 |
616 | S>P | No |
ClinGen ExAC gnomAD |
|
| rs1425130072 | 617 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1262794381 CA362551938 |
618 | P>L | No |
ClinGen gnomAD |
|
|
rs759933239 CA3613389 |
619 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs775014931 CA3613388 |
621 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362551919 rs1240893709 |
621 | F>S | No |
ClinGen TOPMed |
|
|
CA3613387 rs766985977 |
623 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA362551903 rs1270729546 |
623 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs138231103 CA3613386 |
624 | C>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs756375300 CA362551885 |
626 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756375300 CA3613383 |
626 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3613381 rs771912044 |
628 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362551867 rs1359353008 |
629 | L>V | No |
ClinGen gnomAD |
|
|
rs1420030762 CA362551861 |
630 | Q>* | No |
ClinGen TOPMed |
|
|
CA362551852 rs1432307213 |
631 | S>L | No |
ClinGen gnomAD |
|
|
rs767585659 CA3613380 |
633 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1188641926 CA362551834 |
634 | G>E | No |
ClinGen gnomAD |
|
|
rs1450592477 CA362551829 |
635 | V>F | No |
ClinGen gnomAD |
|
|
CA3613379 rs778889778 |
638 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362551795 rs1185118354 |
639 | K>Q | No |
ClinGen gnomAD |
|
|
rs61754482 CA3613377 |
640 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 645 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3613351 rs750952611 |
646 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA362551469 rs1474456532 |
647 | Q>R | No |
ClinGen gnomAD |
|
|
CA3613349 rs760298508 |
650 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760298508 CA3613350 |
650 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362551397 rs1449811295 |
651 | T>A | No |
ClinGen TOPMed |
|
|
rs752136090 CA3613348 |
652 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA362551369 rs1248422896 |
653 | E>K | No |
ClinGen gnomAD |
|
|
rs767208365 CA3613347 |
654 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA133306200 rs867055347 COSM3949346 |
657 | Q>E | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1338185560 CA362551218 |
659 | S>N | No |
ClinGen TOPMed |
|
|
rs773953554 CA3613345 |
660 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133306194 rs1011834320 |
660 | I>V | No |
ClinGen TOPMed |
|
|
CA3613343 rs372242415 |
661 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 664 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs931021005 CA133306179 |
664 | Q>K | No |
ClinGen Ensembl |
|
|
CA133305298 rs889447936 |
665 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs147811120 CA3613323 |
667 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769808547 CA3613322 |
667 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147811120 CA3613324 |
667 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3613320 rs569351826 |
674 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA362550861 rs569351826 |
674 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA362550842 rs1403528193 |
675 | T>I | No |
ClinGen TOPMed |
|
|
CA3613319 rs768870351 |
676 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362550819 rs1482798292 |
677 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA362550789 rs1402856615 |
678 | D>E | No |
ClinGen gnomAD |
|
|
CA362550767 rs1383030323 |
680 | D>N | No |
ClinGen gnomAD |
|
|
CA3613316 rs772170892 |
681 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA133305244 rs1042222898 |
682 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA362550747 rs1233296079 |
682 | D>H | No |
ClinGen TOPMed |
|
|
rs1396895608 CA362550739 |
683 | T>A | No |
ClinGen gnomAD |
|
|
rs1351398093 CA362550737 |
683 | T>N | No |
ClinGen TOPMed |
|
|
rs1453673115 CA362550729 |
684 | T>I | No |
ClinGen gnomAD |
|
|
rs746293627 CA362550728 |
685 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs746293627 CA3613315 |
685 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs368045387 CA3613304 |
687 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3613303 rs776712896 |
688 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362550550 rs776712896 |
688 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342658262 CA362550513 |
689 | D>E | No |
ClinGen TOPMed |
|
|
rs1420140620 CA362550521 |
689 | D>V | No |
ClinGen gnomAD |
|
|
rs375661759 CA3613302 |
690 | V>A | No |
ClinGen ESP ExAC TOPMed |
|
|
rs867412562 CA133303770 |
692 | S>F | No |
ClinGen Ensembl |
|
|
rs1300750482 CA362550465 |
693 | P>A | No |
ClinGen TOPMed |
|
|
rs775690046 CA3613299 |
694 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774584819 CA3613296 |
698 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1281709174 CA362550303 |
699 | I>T | No |
ClinGen TOPMed |
|
|
rs1360975079 CA362550285 |
700 | H>P | No |
ClinGen gnomAD |
|
|
rs1488140879 CA362550235 |
702 | D>N | No |
ClinGen TOPMed |
|
|
rs771216657 CA3613295 |
703 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3613292 rs749589702 |
706 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA3613270 rs748673102 |
710 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3613269 rs781679974 |
710 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs781104527 CA133298577 |
713 | I>M | No |
ClinGen Ensembl |
|
| TCGA novel | 715 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3613264 rs753726305 |
718 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163953040 CA362548543 |
719 | C>R | No |
ClinGen gnomAD |
|
|
CA3613263 rs777741723 |
719 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1304436145 CA825967378 |
720 | Y>* | No |
ClinGen TOPMed |
|
|
CA3613260 rs767425792 |
720 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3613261 rs767425792 |
720 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767425792 CA362548534 |
720 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469240002 CA362548528 |
721 | L>P | No |
ClinGen gnomAD |
|
|
COSM178004 rs373080488 CA3613258 |
723 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs373080488 CA362548517 |
723 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3613256 rs376937689 |
723 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs376645663 CA3613255 |
725 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs894384677 CA133298523 |
725 | T>N | No |
ClinGen Ensembl |
|
|
CA362548473 rs371351053 |
730 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371351053 CA3613253 |
730 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA362548457 rs1317725043 |
732 | H>R | No |
ClinGen gnomAD |
|
|
CA362548459 rs1561844220 |
732 | H>Y | No |
ClinGen Ensembl |
|
|
CA3613252 rs770155101 |
733 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA133298504 rs770155101 |
733 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs762095314 CA3613251 |
735 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA3613250 rs777070487 |
737 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362548411 rs147990653 CA3613249 |
738 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362548405 rs1368739816 |
739 | Q>H | No |
ClinGen gnomAD |
|
|
rs745418792 CA3613248 |
739 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA362548403 rs1324947040 |
740 | G>R | No |
ClinGen gnomAD |
|
|
CA362548379 rs1346590352 |
743 | K>T | No |
ClinGen gnomAD |
|
|
CA3613246 rs757060314 |
746 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3613245 rs757060314 |
746 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395088204 CA362548359 |
746 | Q>R | No |
ClinGen gnomAD |
|
|
rs746974915 CA3613220 |
749 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA362554305 rs758537158 |
752 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs750488134 CA3613217 |
753 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1400804413 CA362554280 |
754 | E>Q | No |
ClinGen gnomAD |
|
|
CA362554236 rs1356813299 |
757 | Q>L | No |
ClinGen gnomAD |
|
|
rs369804014 CA3613216 |
759 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369804014 CA3613215 |
759 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1418828838 CA362554198 |
760 | F>L | No |
ClinGen gnomAD |
|
|
CA3613213 rs764541090 |
762 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA133342625 rs764541090 |
762 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561823853 CA362554165 |
763 | Y>D | No |
ClinGen Ensembl |
|
|
rs1255504025 CA362554152 |
764 | I>V | No |
ClinGen gnomAD |
|
|
CA3613211 rs768135403 |
765 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768135403 CA3613210 |
765 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs762612776 CA3613209 |
766 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs1335305820 CA362554086 |
769 | D>H | No |
ClinGen gnomAD |
|
|
rs1274831087 CA362554066 |
771 | I>F | No |
ClinGen gnomAD |
|
|
CA362554049 rs1307027911 |
772 | V>A | No |
ClinGen gnomAD |
|
|
rs749910944 CA133342596 COSM1734696 |
772 | V>I | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA362554016 rs1392676410 |
775 | L>* | No |
ClinGen gnomAD |
|
| TCGA novel | 776 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362553996 rs1376160746 |
777 | P>A | No |
ClinGen gnomAD |
|
|
CA133342567 rs952148845 |
778 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3613207 rs769613278 |
778 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1444412433 CA362553976 |
779 | I>V | No |
ClinGen TOPMed |
|
|
rs747869211 CA3613206 |
780 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1471454687 CA362553964 |
780 | Y>N | No |
ClinGen gnomAD |
|
|
CA362553906 rs1368159765 |
785 | D>N | No |
ClinGen gnomAD |
|
|
CA362553908 rs1368159765 |
785 | D>Y | No |
ClinGen gnomAD |
|
|
rs201407807 CA362553878 |
788 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3613205 rs776085771 |
788 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs201407807 CA3613204 |
788 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3613203 rs746772895 |
791 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1581380576 CA362553855 |
792 | P>S | No |
ClinGen Ensembl |
|
|
rs369805517 CA3613202 |
793 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1234441600 CA362551794 |
794 | G>D | No |
ClinGen gnomAD |
|
|
rs1349187606 CA362551760 |
797 | N>K | No |
ClinGen gnomAD |
|
|
CA362551753 rs1414815830 |
798 | Y>C | No |
ClinGen TOPMed |
|
|
CA3613182 rs771813080 |
799 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438754570 CA362551740 |
799 | L>F | No |
ClinGen Ensembl |
|
|
CA362551734 rs1299854281 |
800 | K>R | No |
ClinGen gnomAD |
|
|
rs1231516427 CA362551722 |
802 | A>T | No |
ClinGen gnomAD |
|
|
CA362551717 rs1581306131 |
802 | A>V | No |
ClinGen Ensembl |
|
|
rs778764993 CA3613180 |
806 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1384097784 CA362551689 |
807 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA362551681 rs1297634813 |
808 | A>D | No |
ClinGen gnomAD |
|
|
rs1297634813 CA362551679 |
808 | A>V | No |
ClinGen gnomAD |
|
|
CA3613177 rs778116321 |
809 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756269974 CA3613176 |
810 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1170682421 CA362551671 |
810 | H>Y | No |
ClinGen gnomAD |
|
|
rs143224673 CA362551666 |
811 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143224673 CA3613175 |
811 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 812 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 813 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs571489303 CA3613150 |
816 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362551575 rs1234086698 |
819 | E>K | No |
ClinGen gnomAD |
|
|
CA3613147 rs751955614 |
823 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA133315067 rs1046581631 |
823 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs780656445 CA3613146 |
824 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750901189 CA3613144 |
825 | L>R | No |
ClinGen ExAC gnomAD |
|
|
COSM330202 CA3613143 rs763533722 |
826 | S>F | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA362551507 rs898106928 |
829 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA362551511 rs1339126628 |
829 | I>T | No |
ClinGen TOPMed |
|
|
rs1012045912 CA133315030 |
835 | E>G | No |
ClinGen Ensembl |
|
|
CA3613140 rs201418363 |
837 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA133315023 rs1054082684 |
838 | R>* | No |
ClinGen TOPMed |
|
|
rs759386313 CA3613139 COSM1131846 |
838 | R>Q | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA362551400 rs1456848750 |
840 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 841 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs909265509 CA133315016 |
841 | Q>E | No |
ClinGen TOPMed |
|
|
rs773997344 CA3613138 |
841 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA362551350 rs1483728870 |
844 | S>L | No |
ClinGen TOPMed |
|
|
CA3613137 rs766383300 |
846 | F>L | No |
ClinGen ExAC |
|
| TCGA novel | 847 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773401230 CA133315006 |
849 | N>D | No |
ClinGen Ensembl |
|
| TCGA novel | 851 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762833413 CA3613136 |
851 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs773155537 CA3613135 |
852 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770012433 CA3613134 |
853 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs779462173 CA3613105 |
854 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362550003 rs779462173 COSM1131848 |
854 | A>V | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3613103 rs747703867 |
856 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362549974 rs1327776249 |
859 | C>R | No |
ClinGen TOPMed |
|
|
CA3613102 rs780699859 |
859 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs528502008 CA362549949 |
862 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA133309018 rs926041472 |
864 | T>I | No |
ClinGen TOPMed |
|
|
CA3613099 rs146362030 |
866 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758198333 CA3613098 |
866 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs77123177 CA3613097 |
867 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA362549914 rs1214984334 |
868 | Y>* | No |
ClinGen gnomAD |
|
|
CA362549915 rs1300305523 |
868 | Y>F | No |
ClinGen gnomAD |
|
|
rs1310387813 CA362549920 |
868 | Y>H | No |
ClinGen gnomAD |
|
|
rs1310387813 CA362549919 |
868 | Y>N | No |
ClinGen gnomAD |
|
|
CA362549903 rs1341981950 |
870 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs368272774 CA133308956 |
872 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA362549492 rs1581276809 |
875 | S>A | No |
ClinGen Ensembl |
|
|
CA362549470 rs1166993623 |
876 | S>N | No |
ClinGen gnomAD |
|
|
CA362549442 rs1422192640 |
878 | K>E | No |
ClinGen gnomAD |
|
|
CA3613061 rs759824382 |
880 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3613059 rs771285768 |
883 | A>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 883 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3613060 rs771285768 |
883 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA362549331 rs1581276761 |
886 | Q>P | No |
ClinGen Ensembl |
|
| TCGA novel | 887 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380827504 CA362549323 |
887 | L>V | No |
ClinGen TOPMed |
|
|
rs773761558 CA3613057 |
888 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs763242703 CA3613058 |
888 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1026081144 CA133306191 |
889 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs779641159 CA3613054 |
892 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362549263 rs1335045540 |
892 | D>H | No |
ClinGen gnomAD |
|
|
rs771445581 CA3613053 |
893 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA133303186 rs1024558990 |
897 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3613020 rs537001542 |
898 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762028288 CA3613016 |
901 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs765641995 CA3613017 |
901 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414924559 CA362548220 |
907 | M>R | No |
ClinGen gnomAD |
|
|
rs764695497 CA3613014 |
907 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 908 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 909 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362548180 rs1395745161 |
910 | Q>E | No |
ClinGen TOPMed |
|
|
CA362548163 rs1389140924 |
911 | L>V | No |
ClinGen TOPMed |
|
|
rs773976485 CA362548146 |
912 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs773976485 CA3613012 |
912 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362548135 rs1561764115 |
913 | C>Y | No |
ClinGen Ensembl |
|
|
rs1232315087 CA362548101 |
914 | F>L | No |
ClinGen TOPMed |
|
|
rs139004699 CA3613011 |
914 | F>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201999223 CA3613010 |
915 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3613009 rs772670882 |
915 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 916 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1239411374 CA362548083 |
916 | A>T | No |
ClinGen gnomAD |
|
|
rs1222843606 CA362548068 |
917 | A>D | No |
ClinGen TOPMed |
|
|
CA362548039 rs1261770400 |
920 | T>A | No |
ClinGen gnomAD |
|
|
rs1017797408 CA133303092 |
921 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs200176296 CA3613007 |
922 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778925288 CA133303091 |
922 | M>V | No |
ClinGen Ensembl |
|
|
rs781253542 CA3613006 |
923 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA3613005 rs150685271 |
924 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA825377795 rs1252644506 |
925 | T>N | No |
ClinGen TOPMed |
|
|
CA3613003 rs780140936 |
925 | T>Q | No |
ClinGen ExAC gnomAD |
|
|
CA362547952 rs1474967129 |
925 | T>Y | No |
ClinGen TOPMed |
1 associated diseases with Q96KP1
[MIM: 619306]: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia (NEDFACH)
An autosomal recessive disorder characterized by global developmental delay, intellectual disability, facial dysmorphism, and abnormalities of the cerebellum observed on brain imaging. Disease severity is variable. Some affected individuals have poor overall growth with microcephaly, delayed walking, spasticity, and poor or absent speech. Others may achieve more significant developmental milestones. Additional variable manifestations may include cardiac ventricular septal defect, spasticity, cataracts, optic nerve hypoplasia, seizures, and joint contractures. {ECO:0000269|PubMed:32639540}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder characterized by global developmental delay, intellectual disability, facial dysmorphism, and abnormalities of the cerebellum observed on brain imaging. Disease severity is variable. Some affected individuals have poor overall growth with microcephaly, delayed walking, spasticity, and poor or absent speech. Others may achieve more significant developmental milestones. Additional variable manifestations may include cardiac ventricular septal defect, spasticity, cataracts, optic nerve hypoplasia, seizures, and joint contractures. {ECO:0000269|PubMed:32639540}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| exocyst | A protein complex peripherally associated with the plasma membrane that determines where vesicles dock and fuse. At least eight complex components are conserved between yeast and mammals. |
| Flemming body | A cell part that is the central region of the midbody characterized by a gap in alpha-tubulin staining. It is a dense structure of antiparallel microtubules from the central spindle in the middle of the intercellular bridge. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| protein N-terminus binding | Binding to a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
| small GTPase binding | Binding to a small monomeric GTPase. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| exocytosis | A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell. |
| Golgi to plasma membrane transport | The directed movement of substances from the Golgi to the plasma membrane in transport vesicles that move from the trans-Golgi network to the plasma membrane, where they fuse and release their contents by exocytosis. |
| membrane fission | A process that is carried out at the cellular level which results in the separation of a single continuous membrane into two membranes. |
| mitotic cytokinesis | A cell cycle process that results in the division of the cytoplasm of a cell after mitosis, resulting in the separation of the original cell into two daughter cells. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| regulation of entry of bacterium into host cell | Any process that modulates the frequency, rate or extent of entry of bacterium into host cell. |
| vesicle docking involved in exocytosis | The initial attachment of a vesicle membrane to a target membrane, mediated by proteins protruding from the membrane of the vesicle and the target membrane, that contributes to exocytosis. |
| vesicle tethering involved in exocytosis | The initial, indirect interaction between a secretory vesicle membrane and a site of exocytosis in the plasma membrane. This interaction is mediated by tethering factors (or complexes), which interact with both membranes. Interaction can occur via direct binding to membrane phospholipids or membrane proteins, or via binding to vesicle coat proteins. This process is distinct from and prior to docking and fusion. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9D4H1 | Exoc2 | Exocyst complex component 2 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSRSRQPPLV | TGISPNEGIP | WTKVTIRGEN | LGTGPTDLIG | LTICGHNCLL | TAEWMSASKI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VCRVGQAKND | KGDIIVTTKS | GGRGTSTVSF | KLLKPEKIGI | LDQSAVWVDE | MNYYDMRTDR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NKGIPPLSLR | PANPLGIEIE | KSKFSQKDLE | MLFHGMSADF | TSENFSAAWY | LIENHSNTSF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EQLKMAVTNL | KRQANKKSEG | SLAYVKGGLS | TFFEAQDALS | AIHQKLEADG | TEKVEGSMTQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KLENVLNRAS | NTADTLFQEV | LGRKDKADST | RNALNVLQRF | KFLFNLPLNI | ERNIQKGDYD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VVINDYEKAK | SLFGKTEVQV | FKKYYAEVET | RIEALRELLL | DKLLETPSTL | HDQKRYIRYL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SDLHASGDPA | WQCIGAQHKW | ILQLMHSCKE | GYVKDLKGNP | GLHSPMLDLD | NDTRPSVLGH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LSQTASLKRG | SSFQSGRDDT | WRYKTPHRVA | FVEKLTKLVL | SQLPNFWKLW | ISYVNGSLFS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ETAEKSGQIE | RSKNVRQRQN | DFKKMIQEVM | HSLVKLTRGA | LLPLSIRDGE | AKQYGGWEVK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| CELSGQWLAH | AIQTVRLTHE | SLTALEIPND | LLQTIQDLIL | DLRVRCVMAT | LQHTAEEIKR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LAEKEDWIVD | NEGLTSLPCQ | FEQCIVCSLQ | SLKGVLECKP | GEASVFQQPK | TQEEVCQLSI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| NIMQVFIYCL | EQLSTKPDAD | IDTTHLSVDV | SSPDLFGSIH | EDFSLTSEQR | LLIVLSNCCY |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LERHTFLNIA | EHFEKHNFQG | IEKITQVSMA | SLKELDQRLF | ENYIELKADP | IVGSLEPGIY |
| 790 | 800 | 810 | 820 | 830 | 840 |
| AGYFDWKDCL | PPTGVRNYLK | EALVNIIAVH | AEVFTISKEL | VPRVLSKVIE | AVSEELSRLM |
| 850 | 860 | 870 | 880 | 890 | 900 |
| QCVSSFSKNG | ALQARLEICA | LRDTVAVYLT | PESKSSFKQA | LEALPQLSSG | ADKKLLEELL |
| 910 | 920 | ||||
| NKFKSSMHLQ | LTCFQAASST | MMKT |