Q92503
Gene name |
SEC14L1 (SEC14L) |
Protein name |
SEC14-like protein 1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6397 |
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 Q92503
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q92503-F1 | Predicted | AlphaFoldDB |
481 variants for Q92503
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs371430429 CA8792172 |
2 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144668416 CA294270512 |
3 | Q>* | No |
ClinGen ESP |
|
|
CA401198591 rs1376188644 |
6 | Q>H | No |
ClinGen gnomAD |
|
|
CA401198589 rs1326636998 |
6 | Q>R | No |
ClinGen gnomAD |
|
|
CA401198601 rs1309337675 |
8 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA401198619 rs1336590639 |
11 | V>L | No |
ClinGen gnomAD |
|
|
rs1336590639 CA401198618 |
11 | V>M | No |
ClinGen gnomAD |
|
|
CA401198636 rs1567891163 |
13 | K>R | No |
ClinGen Ensembl |
|
|
rs1447477123 CA401195506 |
22 | A>P | No |
ClinGen TOPMed |
|
|
rs1286293639 CA401195538 |
24 | E>Q | No |
ClinGen TOPMed |
|
|
rs1252597469 CA401195569 |
26 | R>T | No |
ClinGen gnomAD |
|
|
CA401195604 rs1199477253 |
29 | T>A | No |
ClinGen gnomAD |
|
|
CA401195638 rs1284085508 |
31 | P>H | No |
ClinGen TOPMed |
|
|
CA401195665 rs1459908475 |
33 | I>T | No |
ClinGen gnomAD |
|
|
CA081098 rs776854628 RCV000208543 |
34 | P>A | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1225578055 CA401195679 |
34 | P>L | No |
ClinGen TOPMed |
|
|
CA8792195 rs776854628 |
34 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA8792197 rs1049413 |
35 | M>T | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1049416 CA8792199 |
37 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM195729 CA8792200 rs1049416 VAR_057173 |
37 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA8792202 rs759524446 |
38 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401195716 rs1377519018 |
39 | S>G | No |
ClinGen gnomAD |
|
|
CA401195729 rs1339720998 |
40 | D>E | No |
ClinGen gnomAD |
|
|
CA8792204 rs529549777 |
40 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
TCGA novel CA294266223 rs147719854 |
45 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP TOPMed gnomAD NCI-TCGA |
|
CA8792206 rs777368731 |
46 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1049417 CA401195779 |
47 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1277676329 CA401195782 |
48 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1475467145 CA401195804 |
51 | A>D | No |
ClinGen TOPMed |
|
|
CA8792208 rs140880025 |
51 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA294266240 rs1049418 |
52 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8792209 rs374486948 |
55 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8792210 rs747406443 |
57 | R>M | No |
ClinGen ExAC gnomAD |
|
|
COSM3421924 CA8792211 COSM3421925 rs769299770 |
58 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs781370833 CA401195849 |
58 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781370833 CA8792212 |
58 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773555679 CA401195872 |
62 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773555679 CA8792216 |
62 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763304442 CA8792217 |
62 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770568448 CA8792218 |
63 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA401195889 rs1215189636 |
64 | D>E | No |
ClinGen TOPMed |
|
|
CA401195888 rs1272603132 |
64 | D>G | No |
ClinGen TOPMed |
|
|
CA401195883 rs1428421214 |
64 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 65 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1290490368 CA401195918 |
69 | L>P | No |
ClinGen gnomAD |
|
|
rs1035901834 CA294266510 |
72 | I>M | No |
ClinGen TOPMed |
|
|
rs554918892 CA294266525 |
76 | D>V | No |
ClinGen Ensembl |
|
|
rs773981078 CA8792246 |
77 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157294306 CA401195996 |
79 | Y>F | No |
ClinGen gnomAD |
|
|
rs1331392748 CA401196042 |
85 | S>* | No |
ClinGen TOPMed |
|
|
rs578095610 CA8792248 COSM1386288 |
86 | L>P | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs578095610 CA8792249 |
86 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760669863 CA8792250 |
88 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401196060 rs575025415 |
89 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM378237 rs763526107 CA8792252 |
89 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs763526107 CA8792251 |
89 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA294266562 rs575025415 |
89 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA401196073 rs1461500024 |
91 | R>H | No |
ClinGen gnomAD |
|
|
CA401196074 rs1461500024 |
91 | R>P | No |
ClinGen gnomAD |
|
| TCGA novel | 92 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8792253 rs376407245 |
93 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs879201590 CA294266575 |
93 | L>V | No |
ClinGen Ensembl |
|
|
CA401196091 rs1379639602 |
94 | H>R | No |
ClinGen TOPMed |
|
|
VAR_060480 CA294266600 rs1049422 |
97 | A>G | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA8792255 rs750093696 |
98 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
VAR_060481 rs1049423 CA294266609 |
98 | Y>H | No |
ClinGen UniProt Ensembl dbSNP |
|
| TCGA novel | 98 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401196122 rs1191052593 |
99 | N>D | No |
ClinGen TOPMed |
|
|
rs1231848737 CA401196128 |
99 | N>K | No |
ClinGen gnomAD |
|
|
rs1295587764 CA401196140 |
101 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs768061912 CA8792257 |
104 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753191916 CA8792258 |
105 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs200035066 CA8792259 |
108 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777669180 CA8792260 |
109 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA401196227 rs1237146918 |
111 | H>R | No |
ClinGen gnomAD |
|
|
rs749420346 CA8792261 |
113 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8792262 rs757317007 |
114 | Y>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1419939404 CA401196278 |
115 | T>A | No |
ClinGen gnomAD |
|
|
rs750523082 CA8792299 |
116 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA294267547 rs977114287 |
117 | H>Q | No |
ClinGen Ensembl |
|
|
rs1387744977 CA401196617 |
117 | H>Y | No |
ClinGen gnomAD |
|
|
rs758578867 CA8792300 |
118 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA401196642 rs1233385918 |
120 | N>I | No |
ClinGen gnomAD |
|
|
TCGA novel rs780217945 CA8792302 |
120 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs751837900 CA8792304 |
123 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA8792303 rs751837900 |
123 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA401196674 rs1246025387 |
125 | C>S | No |
ClinGen TOPMed |
|
| TCGA novel | 126 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401196715 rs1443206718 |
130 | A>V | No |
ClinGen gnomAD |
|
|
rs548410006 CA8792305 |
131 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748063423 CA8792306 |
134 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1238054749 CA401196765 |
137 | F>S | No |
ClinGen gnomAD |
|
|
rs748780384 CA8792309 |
143 | T>A | No |
ClinGen ExAC |
|
|
rs1198834491 CA401196814 |
144 | V>E | No |
ClinGen TOPMed |
|
|
rs1286401174 CA401196811 |
144 | V>M | No |
ClinGen TOPMed |
|
|
CA294267582 rs929821669 |
146 | K>T | No |
ClinGen Ensembl |
|
|
CA401196834 rs1598376904 |
147 | I>F | No |
ClinGen Ensembl |
|
| rs34381783 | 147 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770618633 CA8792310 |
148 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs774129327 CA8792311 |
149 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA294267588 rs1048189359 |
151 | Q>R | No |
ClinGen Ensembl |
|
|
rs1253237578 CA401196884 |
154 | S>N | No |
ClinGen gnomAD |
|
|
rs1313692768 CA401196893 |
155 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 159 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401197181 rs1435247434 |
160 | K>R | No |
ClinGen gnomAD |
|
|
rs1416326649 CA401197199 |
162 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs777012428 CA8792334 |
163 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770192180 COSM247236 CA8792336 |
164 | E>* | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA401197211 rs770192180 |
164 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766389964 CA8792339 |
166 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766389964 CA8792340 |
166 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763456421 CA8792338 |
166 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA8792341 rs759767028 COSM1225045 |
168 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8792342 rs767606459 COSM984816 |
168 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1002582121 CA294267974 |
171 | E>* | No |
ClinGen TOPMed |
|
|
CA294267980 rs1033778358 |
171 | E>V | No |
ClinGen TOPMed |
|
|
rs952751530 CA294267990 |
172 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1224629793 CA401197274 |
173 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA8792344 rs188191523 |
173 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs866152173 CA294267993 |
174 | G>S | No |
ClinGen TOPMed |
|
|
rs755965082 CA8792345 |
176 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA294267999 rs747124708 |
176 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA294268001 rs747124708 |
176 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1255907301 CA401197307 |
179 | P>L | No |
ClinGen gnomAD |
|
|
rs764043651 CA8792346 |
179 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs753758732 CA8792347 |
180 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA294268006 rs895124734 |
182 | S>N | No |
ClinGen TOPMed |
|
|
CA8792348 rs757271773 |
183 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1172692532 CA401197336 |
184 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 185 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1211404114 CA401197352 |
186 | I>N | No |
ClinGen TOPMed |
|
|
rs1211404114 CA401197351 |
186 | I>T | No |
ClinGen TOPMed |
|
|
rs202179937 CA8792350 |
186 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 187 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1240150 rs1434393210 CA401197363 |
187 | T>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs673918 CA294268018 |
188 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746733097 CA8792353 |
188 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 188 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_060482 CA8792352 rs673918 |
188 | T>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs673918 CA294268021 |
188 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8792355 rs773581367 |
191 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1380025437 CA401197420 |
192 | T>I | No |
ClinGen gnomAD |
|
|
CA401197428 rs1297147959 |
193 | S>P | No |
ClinGen gnomAD |
|
|
CA401197468 rs1240866570 |
196 | S>F | No |
ClinGen TOPMed |
|
|
CA8792357 rs771461335 |
198 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA401197503 rs1260633836 |
199 | K>E | No |
ClinGen gnomAD |
|
|
CA401197536 rs1378792482 |
201 | A>V | No |
ClinGen TOPMed |
|
|
CA8792358 rs774964957 |
202 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1188338044 CA401197547 |
202 | A>V | No |
ClinGen gnomAD |
|
|
rs1453907493 CA401197565 |
204 | M>V | No |
ClinGen gnomAD |
|
|
rs775566630 CA8792361 |
205 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 205 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8792363 rs543667415 |
206 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8792365 rs201160040 |
207 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA401197615 rs1451602713 |
208 | I>F | No |
ClinGen gnomAD |
|
|
rs144875330 CA294268038 |
208 | I>T | No |
ClinGen ESP gnomAD |
|
|
rs1451602713 CA401197613 |
208 | I>V | No |
ClinGen gnomAD |
|
|
rs555422453 CA8792368 |
210 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757832642 CA8792369 |
211 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200819182 CA8792371 |
213 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401197685 rs1453351017 |
214 | K>E | No |
ClinGen TOPMed |
|
|
CA401197704 rs1267626728 |
215 | E>A | No |
ClinGen TOPMed |
|
|
rs1192624005 CA401197750 |
219 | G>S | No |
ClinGen TOPMed |
|
|
CA294268050 rs767971561 |
220 | D>G | No |
ClinGen Ensembl |
|
|
rs1333088984 CA401197754 |
220 | D>N | No |
ClinGen Ensembl |
|
|
rs746353086 CA294268054 |
221 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA8792374 rs754648611 |
221 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs746353086 CA294268056 |
221 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1217215759 CA401197774 |
222 | L>P | No |
ClinGen TOPMed |
|
|
CA401197781 rs1255120381 |
223 | S>R | No |
ClinGen gnomAD |
|
|
CA401197798 rs1277880138 |
224 | S>G | No |
ClinGen TOPMed |
|
|
CA401197830 rs1233302725 |
225 | P>R | No |
ClinGen TOPMed |
|
|
CA401197824 rs1567924190 |
225 | P>S | No |
ClinGen Ensembl |
|
|
rs1047860251 CA294268059 |
226 | S>G | No |
ClinGen Ensembl |
|
|
rs369873363 CA8792377 |
227 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401197866 rs1406910958 |
227 | A>V | No |
ClinGen gnomAD |
|
|
CA8792379 rs533065668 |
228 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401197882 rs1389300350 |
228 | P>H | No |
ClinGen gnomAD |
|
|
CA8792380 rs533065668 |
228 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8792381 rs775649855 |
229 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA8792383 rs374759819 |
231 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367799028 CA8792384 |
232 | V>M | No |
ClinGen ESP ExAC |
|
|
rs1371551132 CA401197943 |
233 | G>D | No |
ClinGen gnomAD |
|
|
CA401197975 rs1334839409 |
235 | P>H | No |
ClinGen gnomAD |
|
|
rs1289509591 CA401197970 |
235 | P>S | No |
ClinGen gnomAD |
|
|
CA401197992 rs1231498200 |
236 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 244 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773345347 CA8792425 |
245 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs770687186 CA8792427 |
247 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA294268602 rs939180121 COSM164236 |
250 | D>N | NS [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs939180121 CA401198381 |
250 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA401198394 rs1598382266 |
252 | T>P | No |
ClinGen Ensembl |
|
|
rs759470211 CA8792429 COSM984818 |
253 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs775007202 CA8792431 |
258 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs201907210 CA294268610 |
259 | L>P | No |
ClinGen 1000Genomes |
|
|
CA8792432 rs760207762 |
260 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8792435 rs143538717 |
263 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8792436 rs766918459 |
263 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA8792434 rs143538717 |
263 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8792437 rs752045564 |
264 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA401198487 rs1598382362 |
266 | L>H | No |
ClinGen Ensembl |
|
|
rs1598382378 CA401198494 |
267 | Q>P | No |
ClinGen Ensembl |
|
|
rs1208867619 CA401198505 |
268 | E>D | No |
ClinGen gnomAD |
|
|
rs1177698597 CA401198518 |
270 | H>L | No |
ClinGen TOPMed |
|
|
rs748227073 CA8792440 |
270 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA294268633 rs940487037 |
273 | K>E | No |
ClinGen Ensembl |
|
|
rs369833306 CA8792470 |
275 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA294273880 rs202211531 |
276 | K>E | No |
ClinGen 1000Genomes |
|
|
rs759963930 CA401199096 |
277 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA8792473 rs769539109 |
277 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759963930 CA8792474 |
277 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA8792472 rs769539109 |
277 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401199126 rs1408931172 |
281 | L>P | No |
ClinGen TOPMed |
|
|
rs868447396 CA294273886 COSM277197 COSM1736616 |
282 | R>W | large_intestine Variant assessed as Somatic; impact. central_nervous_system [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA8792475 COSM3755910 rs373529746 COSM3755909 |
285 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs753178696 CA8792476 |
285 | R>H | No |
ClinGen ExAC TOPMed |
|
|
rs150829875 CA8792477 |
287 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA401199203 rs1483605921 |
293 | K>R | No |
ClinGen gnomAD |
|
|
rs1187778224 CA401199230 |
297 | I>F | No |
ClinGen gnomAD |
|
|
CA8792478 rs142447733 |
297 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA294273891 rs893457804 |
298 | M>I | No |
ClinGen TOPMed |
|
|
CA294273895 rs1010662538 |
302 | L>W | No |
ClinGen TOPMed |
|
|
CA8792480 rs139227620 |
303 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA294273900 rs947110420 |
311 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 312 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1460702372 CA401199344 |
313 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA401199345 rs1460702372 |
313 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 314 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375660465 CA8792483 |
314 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8792482 rs779087898 |
314 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA401199368 rs1430170166 |
316 | T>I | No |
ClinGen gnomAD |
|
|
CA401199377 rs1312187194 |
317 | W>C | No |
ClinGen gnomAD |
|
|
CA401199381 rs1376973272 |
318 | T>N | No |
ClinGen gnomAD |
|
|
rs779719698 CA8792485 |
319 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8792486 rs530981190 |
321 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 327 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8792488 rs147283848 |
328 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401199517 rs1343249500 |
328 | A>V | No |
ClinGen gnomAD |
|
|
rs1278804180 CA401199559 |
331 | W>C | No |
ClinGen gnomAD |
|
|
CA8792490 rs769483985 |
334 | H>D | No |
ClinGen ExAC |
|
|
CA401200155 rs1363217168 |
339 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs770517600 CA8792512 |
339 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461447390 CA401200166 |
341 | L>F | No |
ClinGen TOPMed |
|
|
COSM135777 CA8792515 rs144852225 |
343 | V>M | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1370100238 CA401200191 |
345 | R>T | No |
ClinGen gnomAD |
|
|
rs1251422764 CA401200197 |
346 | L>V | No |
ClinGen TOPMed |
|
|
rs1229512015 CA401200201 |
347 | G>R | No |
ClinGen TOPMed |
|
|
rs777121236 CA8792516 |
357 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8792519 rs373124926 |
359 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs966559484 CA294274824 |
361 | E>K | No |
ClinGen TOPMed |
|
|
rs1489334360 CA401200304 |
362 | A>P | No |
ClinGen gnomAD |
|
|
rs1164561331 CA775255779 |
366 | Y>* | No |
ClinGen TOPMed |
|
| rs1471594951 | 366 | Y>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1441820067 CA401200363 |
369 | S>Y | No |
ClinGen gnomAD |
|
|
CA8792548 rs566450330 |
370 | I>M | No |
ClinGen 1000Genomes ExAC |
|
|
rs758094473 CA8792550 |
376 | R>G | No |
ClinGen ExAC |
|
|
CA401200415 rs1385481222 |
377 | R>* | No |
ClinGen TOPMed |
|
|
rs142961659 CA8792551 COSM1240151 |
377 | R>Q | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs947024358 CA294275321 |
379 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA401200444 rs1458158249 |
381 | N>S | No |
ClinGen TOPMed |
|
|
rs1419309214 CA401200454 COSM1225046 |
382 | T>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs539907146 CA8792553 |
383 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401200483 rs1359744783 |
387 | R>Q | No |
ClinGen gnomAD |
|
|
CA8792555 COSM1225044 rs749805474 |
387 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 389 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA294275328 rs761159765 |
389 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA401200706 rs1265638251 |
392 | W>G | No |
ClinGen gnomAD |
|
|
rs1265638251 CA401200705 |
392 | W>R | No |
ClinGen gnomAD |
|
|
rs745935812 CA8792575 |
395 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8792577 rs775853361 |
396 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1201546704 CA401200749 |
398 | L>W | No |
ClinGen gnomAD |
|
|
CA8792579 rs768516993 |
399 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 404 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1264891219 CA401200834 |
410 | G>A | No |
ClinGen TOPMed |
|
|
rs1457850017 CA401200831 |
410 | G>R | No |
ClinGen gnomAD |
|
|
rs773073211 CA8792583 |
416 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401200866 rs2280271 |
416 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401200885 rs765876596 |
419 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8792585 rs765876596 |
419 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567933792 CA401200895 |
420 | V>A | No |
ClinGen Ensembl |
|
|
rs1388156205 CA401200902 |
421 | V>G | No |
ClinGen TOPMed |
|
|
rs1228530434 CA401200917 |
424 | N>H | No |
ClinGen gnomAD |
|
|
CA294275577 rs144601920 |
428 | T>I | No |
ClinGen ESP TOPMed |
|
|
CA8792588 rs764322549 |
431 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA8792589 rs368040924 |
431 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8792590 rs757609461 |
432 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs779458960 CA8792591 |
436 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781464999 CA8792616 |
450 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 453 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769572555 CA8792618 |
453 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA401201119 rs1308483211 |
454 | D>H | No |
ClinGen gnomAD |
|
|
CA401201126 rs1233071553 |
455 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA401201129 rs1203294424 |
455 | N>T | No |
ClinGen TOPMed |
|
|
CA294275689 rs946718047 |
461 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs749183190 CA8792620 |
462 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 464 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8792622 rs774316952 |
466 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA401201210 rs1391743854 |
467 | D>H | No |
ClinGen gnomAD |
|
|
rs1175255799 CA401201233 |
470 | G>R | No |
ClinGen gnomAD |
|
|
rs1038579355 CA294275691 |
471 | P>L | No |
ClinGen TOPMed |
|
|
CA8792625 rs775144695 |
477 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA8792627 rs146702569 |
478 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA294275694 rs200758467 |
479 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200758467 CA8792628 |
479 | D>N | Variant assessed as Somatic; 0.0001855 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA401201286 rs200758467 |
479 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370826591 CA401201293 |
480 | K>E | No |
ClinGen TOPMed |
|
|
CA401201334 rs1432394558 |
484 | P>A | No |
ClinGen gnomAD |
|
|
CA401201344 rs1363015858 |
485 | D>H | No |
ClinGen gnomAD |
|
|
rs371973364 CA8792629 |
488 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766971951 CA8792630 |
488 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA294275699 rs1050255216 |
488 | S>R | No |
ClinGen gnomAD |
|
|
CA401201400 rs1224174984 |
489 | G>E | No |
ClinGen gnomAD |
|
| rs554567260 | 493 | C>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401202132 rs1272063588 |
493 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA8792648 rs763399110 |
494 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401202157 rs1285180292 |
496 | P>T | No |
ClinGen gnomAD |
|
|
rs989792642 CA294276364 |
499 | G>E | No |
ClinGen Ensembl |
|
|
CA401202200 CA401202198 rs1219676710 |
499 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs752053579 CA8792650 |
501 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs752178447 CA294276369 |
503 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs371391724 CA294276371 |
505 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1471319795 CA401202331 |
507 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA401202335 rs1183761964 |
507 | R>Q | No |
ClinGen gnomAD |
|
|
CA401202333 rs1471319795 |
507 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA8792652 rs759980906 |
509 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs759980906 CA8792651 |
509 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs752687715 CA8792653 |
510 | E>K | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs756263182 CA8792654 |
511 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401202384 rs756263182 |
511 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401202398 rs1170373631 |
511 | E>V | No |
ClinGen TOPMed |
|
|
CA401202424 rs756976977 |
513 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA401202441 rs140278418 |
514 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745772340 CA8792659 |
515 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA401202498 rs1446176479 |
518 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs758302839 CA8792661 |
521 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758302839 CA8792660 |
521 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8792662 rs746480471 |
524 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1462569903 CA401202603 |
527 | S>T | No |
ClinGen TOPMed |
|
|
CA8792664 rs377578365 |
529 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747815134 CA8792665 |
529 | S>N | No |
ClinGen ExAC gnomAD |
|
|
COSM76363 CA8792667 rs774609620 |
530 | V>I | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8792668 RCV000970797 rs143320926 |
534 | A>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA401202733 rs1179692590 |
536 | H>D | No |
ClinGen gnomAD |
|
|
CA8792699 rs754995888 |
539 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8792701 rs752233244 |
540 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA294277131 rs149537075 |
543 | V>A | No |
ClinGen ESP |
|
|
CA294277133 rs948191599 |
546 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8792703 rs777283135 |
549 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477299997 CA401203065 |
549 | I>V | No |
ClinGen gnomAD |
|
|
CA8792705 rs748971355 |
550 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA294277141 rs1038843617 |
550 | T>S | No |
ClinGen TOPMed |
|
|
rs748971355 CA8792704 |
550 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA8792706 rs780492684 |
552 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1456791711 CA401203106 |
552 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA401203576 rs1402210474 |
554 | D>N | No |
ClinGen gnomAD |
|
|
rs777176254 CA8792709 |
555 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs761868033 CA8792710 |
557 | K>R | No |
ClinGen ExAC |
|
|
rs200380974 CA8792711 |
560 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1227312276 CA401203692 |
564 | I>M | No |
ClinGen gnomAD |
|
|
CA8792713 rs200195840 |
565 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401203694 rs896534728 |
565 | Y>D | No |
ClinGen gnomAD |
|
|
rs896534728 CA294277152 |
565 | Y>H | No |
ClinGen gnomAD |
|
|
rs766045456 CA8792714 |
568 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450243922 CA401203715 |
568 | K>R | No |
ClinGen gnomAD |
|
|
COSM1710840 COSM1710839 rs373923048 CA294277160 |
570 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
CA294277165 rs1009222698 |
573 | P>S | No |
ClinGen TOPMed |
|
|
rs1390703348 CA401203770 |
576 | K>T | No |
ClinGen TOPMed |
|
|
CA401203790 rs1389671368 |
579 | L>P | No |
ClinGen gnomAD |
|
|
rs78105087 CA8792724 |
581 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs78105087 CA8792725 |
581 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781662548 CA8792726 |
582 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8792727 rs748659173 |
583 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs769706573 CA8792728 |
583 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA294277180 rs995835667 |
585 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs143885262 CA8792731 |
587 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138920965 CA8792730 |
587 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147239749 CA8792733 |
588 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143077359 CA294277189 |
590 | N>D | No |
ClinGen ESP TOPMed |
|
|
rs1598408448 CA401203862 |
591 | N>S | No |
ClinGen Ensembl |
|
|
CA8792736 rs760680963 |
592 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA401203866 rs1252674494 |
592 | V>M | No |
ClinGen gnomAD |
|
|
rs1367003282 CA401203885 |
595 | I>L | No |
ClinGen gnomAD |
|
|
rs953211277 CA294277195 |
595 | I>T | No |
ClinGen TOPMed |
|
|
rs1442509346 CA401203909 |
598 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 598 | V>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401203915 rs1598408499 |
599 | W>G | No |
ClinGen Ensembl |
|
|
CA8792738 rs753360667 |
600 | Q>R | No |
ClinGen ExAC |
|
|
CA8792739 rs756770033 |
602 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8792740 rs369232367 |
603 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401203940 rs369232367 |
603 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8792741 rs750143362 |
603 | R>H | No |
ClinGen ExAC gnomAD |
|
|
COSM1265122 rs1333091981 CA401203945 |
604 | D>N | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA294277207 rs371802733 |
606 | S>G | No |
ClinGen ESP |
|
|
rs375253428 CA8792743 |
606 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA401203968 rs1567938600 |
607 | M>T | No |
ClinGen Ensembl |
|
|
CA8792744 rs748607738 |
607 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA8792745 rs756610867 |
608 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1357862798 CA401203973 |
608 | V>M | No |
ClinGen Ensembl |
|
|
rs577941050 CA8792746 |
610 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs553388966 CA8792748 |
612 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746097901 CA8792750 |
613 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA8792749 rs774644762 |
613 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs771941198 CA401204014 |
615 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs771941198 CA8792751 |
615 | K>Q | No |
ClinGen ExAC gnomAD |
|
| rs1254019870 | 616 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8792752 rs775454713 |
616 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs930042519 CA294277226 |
619 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs760430269 CA8792753 |
620 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs764073785 CA8792754 |
621 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401204104 rs1199572174 |
626 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1410610149 CA401204106 |
627 | R>G | No |
ClinGen gnomAD |
|
|
CA8792790 rs147825324 |
629 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8792792 rs780874685 |
631 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401204143 rs1457772423 |
632 | Y>C | No |
ClinGen gnomAD |
|
|
CA401204140 rs1228326571 |
632 | Y>H | No |
ClinGen Ensembl |
|
| TCGA novel | 633 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8792793 rs748081978 |
635 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs778131840 CA294277566 |
638 | F>L | No |
ClinGen TOPMed |
|
|
rs773188659 CA8792795 |
640 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401204201 rs1598410383 |
640 | S>T | No |
ClinGen Ensembl |
|
|
rs1225623534 CA401204225 |
643 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8792798 rs773996990 |
645 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773996990 CA401204235 |
645 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8792799 rs565049186 |
646 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 648 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401204255 rs1223168765 |
648 | S>N | No |
ClinGen gnomAD |
|
|
COSM1710842 CA8792800 COSM1710841 rs764477669 |
649 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs114161301 RCV000907085 CA8792801 |
650 | P>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8792803 rs372869341 |
651 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1598410495 CA401204275 |
652 | V>M | No |
ClinGen Ensembl |
|
|
rs751039561 CA8792804 |
653 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs776943334 CA8792806 |
654 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs751760592 CA401204294 |
655 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751760592 COSM473428 CA8792807 |
655 | V>M | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs749232562 CA8792813 |
660 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1018849782 CA294277596 |
662 | S>F | No |
ClinGen TOPMed |
|
|
rs770426103 CA8792814 |
663 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1567939810 CA401204347 |
664 | H>P | No |
ClinGen Ensembl |
|
|
CA8792816 rs745423119 |
664 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA401204364 rs1206061901 |
666 | C>Y | No |
ClinGen gnomAD |
|
|
rs1233076685 CA401204373 |
667 | K>T | No |
ClinGen gnomAD |
|
|
rs1567939827 CA401204377 |
668 | V>L | No |
ClinGen Ensembl |
|
|
rs1348458067 CA401204388 |
669 | M>I | No |
ClinGen TOPMed |
|
|
CA8792818 rs775273700 |
672 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs528782418 CA294277606 |
673 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs762265838 CA8792819 |
674 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1245289017 CA401204419 |
674 | V>M | No |
ClinGen gnomAD |
|
|
rs773798440 CA8792821 |
676 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA294277614 COSM1582355 rs918646551 |
677 | S>L | stomach [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 678 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401204453 rs1271931278 |
679 | D>G | No |
ClinGen Ensembl |
|
|
CA8792822 rs547610274 |
680 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA401204481 rs1236669396 |
681 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200675740 CA8792906 |
685 | T>M | No |
ClinGen 1000Genomes ExAC |
|
|
rs766287124 CA8792910 |
688 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs146654495 CA294277794 |
690 | S>N | No |
ClinGen ESP TOPMed |
|
|
rs935090302 CA294277799 |
693 | G>D | No |
ClinGen Ensembl |
|
|
rs1417680404 CA401204558 |
693 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA401204582 rs1598411770 |
696 | Q>P | No |
ClinGen Ensembl |
|
|
CA401204596 rs1192126844 |
698 | S>R | No |
ClinGen TOPMed |
|
|
rs989247787 CA294277801 |
699 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8792918 rs375335873 |
700 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375335873 CA401204603 |
700 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8792917 rs375335873 |
700 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753435985 CA8792919 |
701 | T>P | No |
ClinGen ExAC |
|
|
CA8792920 rs758705868 |
701 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA8792921 rs780421560 |
702 | T>P | No |
ClinGen ExAC |
|
|
CA8792923 rs755448456 |
703 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401204618 rs755448456 |
703 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747475365 CA8792922 |
703 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 704 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8792924 rs200789514 |
704 | S>P | No |
ClinGen ExAC |
|
|
CA401204628 rs1204110877 |
705 | S>N | No |
ClinGen TOPMed |
|
|
rs142538392 CA8792927 |
706 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1371393880 CA401204638 |
706 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA401204656 rs1369928142 |
708 | H>L | No |
ClinGen TOPMed |
|
|
CA401204660 rs1303910007 |
709 | S>P | No |
ClinGen TOPMed |
|
|
CA401204693 rs1311095495 |
712 | M>I | No |
ClinGen gnomAD |
|
|
rs1438809026 CA401204691 |
712 | M>T | No |
ClinGen TOPMed |
|
|
CA294277817 rs942368914 |
713 | I>M | No |
ClinGen gnomAD |
|
|
CA8792928 rs769833979 |
716 | R>Q | No |
ClinGen ExAC gnomAD |
No associated diseases with Q92503
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| RIG-I binding | Binding to RIG-I, a cytosolic pattern recognition receptor that initiates an antiviral signaling pathway upon binding to viral RNA. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| choline transport | The directed movement of choline into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Choline (2-hydroxyethyltrimethylammonium) is an amino alcohol that occurs widely in living organisms as a constituent of certain types of phospholipids and in the neurotransmitter acetylcholine. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| negative regulation of RIG-I signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of the RIG-I signaling pathway. |
26 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5SYC1 | CLVS2 | Clavesin-2 | Homo sapiens (Human) | PR |
| Q9BTX7 | TTPAL | Alpha-tocopherol transfer protein-like | Homo sapiens (Human) | PR |
| Q8IUQ0 | CLVS1 | Clavesin-1 | Homo sapiens (Human) | PR |
| B5MCN3 | SEC14L6 | Putative SEC14-like protein 6 | Homo sapiens (Human) | PR |
| Q9UDX3 | SEC14L4 | SEC14-like protein 4 | Homo sapiens (Human) | PR |
| Q8BG92 | Clvs2 | Clavesin-2 | Mus musculus (Mouse) | PR |
| Q9D4C9 | Clvs1 | Clavesin-1 | Mus musculus (Mouse) | PR |
| Q9D3D0 | Ttpal | Alpha-tocopherol transfer protein-like | Mus musculus (Mouse) | PR |
| Q8R0F9 | Sec14l4 | SEC14-like protein 4 | Mus musculus (Mouse) | PR |
| A6JFQ6 | Clvs1 | Clavesin-1 | Rattus norvegicus (Rat) | PR |
| A6JUQ6 | Clvs2 | Clavesin-2 | Rattus norvegicus (Rat) | PR |
| Q09270 | C34C12.6 | CRAL-TRIO domain-containing protein C34C12.6 | Caenorhabditis elegans | PR |
| Q56ZI2 | PATL2 | Patellin-2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q94C59 | PATL4 | Patellin-4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q56WK6 | PATL1 | Patellin-1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q56Z59 | PATL3 | Patellin-3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8GXC6 | SFH5 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SIW3 | SFH7 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SI13 | SFH10 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH10 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| F4IHJ0 | SFH8 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q93ZE9 | SFH3 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9M0R2 | PATL5 | Patellin-5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q94A34 | SFH12 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH12 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| F4JVA6 | SFH6 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| F4J7S8 | SFH9 | Phosphatidylinositol/phosphatidylcholine transfer protein SFH9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q5SPP0 | clvs2 | Clavesin-2 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVQKYQSPVR | VYKYPFELIM | AAYERRFPTC | PLIPMFVGSD | TVNEFKSEDG | AIHVIERRCK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LDVDAPRLLK | KIAGVDYVYF | VQKNSLNSRE | RTLHIEAYNE | TFSNRVIINE | HCCYTVHPEN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EDWTCFEQSA | SLDIKSFFGF | ESTVEKIAMK | QYTSNIKKGK | EIIEYYLRQL | EEEGITFVPR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| WSPPSITTSS | ETSSSSSKKQ | AASMAVVIPE | AALKEGLSGD | ALSSPSAPEP | VVGTPDDKLD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ADYIKRYLGD | LTPLQESCLI | RLRQWLQETH | KGKIPKDEHI | LRFLRARDFN | IDKAREIMCQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SLTWRKQHQV | DYILETWTPP | QVLQDYYAGG | WHHHDKDGRP | LYVLRLGQMD | TKGLVRALGE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EALLRYVLSI | NEEGLRRCEE | NTKVFGRPIS | SWTCLVDLEG | LNMRHLWRPG | VKALLRIIEV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VEANYPETLG | RLLILRAPRV | FPVLWTLVSP | FIDDNTRRKF | LIYAGNDYQG | PGGLLDYIDK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EIIPDFLSGE | CMCEVPEGGL | VPKSLYRTAE | ELENEDLKLW | TETIYQSASV | FKGAPHEILI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QIVDASSVIT | WDFDVCKGDI | VFNIYHSKRS | PQPPKKDSLG | AHSITSPGGN | NVQLIDKVWQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LGRDYSMVES | PLICKEGESV | QGSHVTRWPG | FYILQWKFHS | MPACAASSLP | RVDDVLASLQ |
| 670 | 680 | 690 | 700 | 710 | |
| VSSHKCKVMY | YTEVIGSEDF | RGSMTSLESS | HSGFSQLSAA | TTSSSQSHSS | SMISR |