Q5T5C0
PR
Gene name |
STXBP5 (LLGL3) |
Protein name |
Syntaxin-binding protein 5 |
Names |
Lethal(2) giant larvae protein homolog 3, Tomosyn-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:134957 |
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 Q5T5C0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5T5C0-F1 | Predicted | AlphaFoldDB |
686 variants for Q5T5C0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA4038609 rs752458091 |
2 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA149434857 rs767046612 |
5 | N>S | No |
ClinGen gnomAD |
|
|
CA366200848 rs1362679605 |
6 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs764029293 CA4038611 |
8 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4038612 rs751493478 |
11 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366200907 rs1483085376 |
15 | A>V | No |
ClinGen TOPMed |
|
|
rs745945655 CA4038615 |
17 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA4038616 rs756273322 |
18 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4038618 rs749548706 |
19 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4038617 rs780246071 |
19 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA366200936 rs1582776940 |
21 | S>A | No |
ClinGen Ensembl |
|
| TCGA novel | 21 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 22 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 25 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs565158190 CA4038619 |
27 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1315872024 CA366200992 |
28 | H>L | No |
ClinGen TOPMed |
|
|
rs1422922387 CA366200998 |
29 | P>L | No |
ClinGen gnomAD |
|
|
CA4038623 rs537023532 |
30 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4038622 rs537023532 |
30 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4038621 rs748650521 |
30 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4038625 rs764908170 |
32 | N>K | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 34 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366201031 rs1562405381 |
35 | P>A | No |
ClinGen Ensembl |
|
|
CA4038626 rs775253842 |
35 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA366201039 rs1282564075 |
36 | E>G | No |
ClinGen gnomAD |
|
|
rs762716872 CA4038627 |
38 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA366201053 rs1582777050 |
38 | Q>R | No |
ClinGen Ensembl |
|
|
rs763941350 CA4038628 |
44 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs751314989 CA4038629 |
45 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA366201113 rs1373347484 |
47 | Q>K | No |
ClinGen TOPMed |
|
|
CA149435017 rs964711202 |
51 | T>S | No |
ClinGen Ensembl |
|
|
rs774107469 CA4038647 |
53 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs530956843 CA4038648 |
58 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1397960072 CA366201200 |
58 | Y>H | No |
ClinGen TOPMed |
|
|
CA4038649 rs767381114 |
59 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1180969405 CA366201224 |
61 | S>L | No |
ClinGen gnomAD |
|
|
rs753921380 CA4038653 |
64 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs755138008 CA4038654 |
64 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1170636082 CA366201245 |
65 | F>C | No |
ClinGen gnomAD |
|
|
CA4038655 rs372793319 |
70 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1409495948 CA366201285 |
71 | I>V | No |
ClinGen gnomAD |
|
|
CA149435021 rs769656684 |
73 | A>T | No |
ClinGen gnomAD |
|
|
rs913406077 CA149435023 |
76 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 79 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4038677 rs751984030 |
85 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA4038678 rs138457066 |
86 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138457066 CA4038680 |
86 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4038681 rs144000289 |
86 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4038679 rs138457066 |
86 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1562427495 CA365963535 |
87 | P>A | No |
ClinGen Ensembl |
|
|
rs747718713 CA4038683 |
89 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1285839663 CA365963643 |
91 | C>G | No |
ClinGen TOPMed |
|
|
CA148949567 rs974681155 |
94 | Q>R | No |
ClinGen TOPMed |
|
|
CA365963752 rs1312895914 |
95 | H>Y | No |
ClinGen gnomAD |
|
|
CA4038685 rs772830103 |
96 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365963820 rs1241926148 |
97 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs760453450 CA4038686 |
97 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs770780576 CA4038687 |
98 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA4038689 rs548216107 |
101 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365964053 rs1279988018 |
107 | L>P | No |
ClinGen TOPMed |
|
|
rs763026194 CA4038692 |
110 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA365966334 rs1229999216 |
112 | A>V | No |
ClinGen TOPMed |
|
|
CA4038710 rs763082652 |
113 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365966362 rs1287258443 |
114 | V>M | No |
ClinGen TOPMed |
|
|
CA148951842 rs147312589 |
116 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1351079517 CA365966419 |
116 | A>V | No |
ClinGen TOPMed |
|
|
rs762145526 CA4038713 |
118 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA365966463 rs1404298719 |
119 | D>H | No |
ClinGen TOPMed |
|
|
rs1233156793 CA365966477 |
120 | D>N | No |
ClinGen gnomAD |
|
|
rs1582826548 CA365966510 |
121 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 123 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1203059840 CA365966544 |
124 | L>F | No |
ClinGen gnomAD |
|
|
COSM3393847 rs369424488 COSM3393846 CA4038716 |
125 | W>R | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA365966571 rs1488895941 |
126 | N>S | No |
ClinGen gnomAD |
|
|
CA4038717 COSM1441075 COSM1441074 rs551518103 |
128 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs571215145 CA4038718 |
128 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA4038719 rs757896113 |
129 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA365966683 rs1192902124 |
131 | R>M | No |
ClinGen gnomAD |
|
|
CA4038720 rs777313530 |
131 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA365966686 rs1582826635 |
132 | P>A | No |
ClinGen Ensembl |
|
|
rs756936155 CA4038722 |
134 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4038723 rs780906186 |
135 | L>P | No |
ClinGen ExAC gnomAD |
|
|
COSM3430096 COSM3430095 rs769544480 CA4038725 |
137 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 139 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1562430772 CA365966902 |
141 | C>F | No |
ClinGen Ensembl |
|
|
rs768803242 CA4038728 |
141 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA365966897 rs1562430772 |
141 | C>Y | No |
ClinGen Ensembl |
|
|
rs774601915 CA4038729 |
144 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs149347420 CA365972899 |
145 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149347420 CA4038749 |
145 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760856516 CA4038750 |
146 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365973161 rs1411197998 |
152 | F>C | No |
ClinGen gnomAD |
|
|
rs1218860365 CA365973165 |
152 | F>L | No |
ClinGen TOPMed |
|
|
rs1010623218 CA148967701 |
153 | Q>R | No |
ClinGen Ensembl |
|
|
CA148967722 rs1020705951 |
157 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs776892844 CA4038752 |
158 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA148967743 rs980424362 |
159 | V>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 162 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759970967 CA4038753 |
163 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs765718593 CA4038754 COSM3829263 COSM3829264 |
163 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1562445758 CA365973395 |
164 | G>S | No |
ClinGen Ensembl |
|
|
CA365973456 rs1301107553 |
166 | I>T | No |
ClinGen gnomAD |
|
|
rs1410663649 CA365973515 |
168 | I>M | No |
ClinGen gnomAD |
|
|
rs1355129482 CA365973494 |
168 | I>V | No |
ClinGen gnomAD |
|
|
CA4038755 rs755537811 |
170 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 171 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4038756 rs761281235 |
173 | S>Y | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs767061374 CA4038757 |
174 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1562445800 CA365973680 |
176 | L>H | No |
ClinGen Ensembl |
|
|
rs1211691669 CA365973702 |
178 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 179 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4038759 rs200947549 |
180 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 181 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365973867 rs1357201902 |
182 | M>I | No |
ClinGen TOPMed |
|
|
rs1182417666 CA365973830 |
182 | M>K | No |
ClinGen gnomAD |
|
|
CA4038760 rs779829503 |
186 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA365973989 rs779829503 |
186 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4038762 rs112977511 |
187 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA365974062 rs1426505079 |
188 | E>K | No |
ClinGen gnomAD |
|
|
rs1442733957 CA365975069 |
190 | S>T | No |
ClinGen TOPMed |
|
|
CA365975094 rs1198368212 |
191 | S>P | No |
ClinGen TOPMed |
|
|
rs753614790 CA4038780 |
197 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs754792682 CA4038781 |
199 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA365975268 rs754792682 |
199 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA148968849 rs144696451 |
201 | I>V | No |
ClinGen ESP TOPMed |
|
|
rs1350225510 CA365975321 |
202 | S>G | No |
ClinGen gnomAD |
|
|
CA4038782 rs765177900 |
204 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 206 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365975466 rs1370070070 |
206 | M>K | No |
ClinGen gnomAD |
|
|
CA4038783 rs752633926 |
206 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4038786 rs747075213 |
208 | E>D | No |
ClinGen ExAC TOPMed |
|
|
COSM263901 CA4038785 rs367614502 |
208 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA365975579 rs1337120783 |
209 | G>R | No |
ClinGen gnomAD |
|
|
CA4038799 rs765084169 |
211 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752546119 CA4038800 |
213 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4038801 rs758299090 |
218 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1188251852 CA365976596 |
219 | T>P | No |
ClinGen gnomAD |
|
|
CA148972003 rs111341385 |
223 | W>* | No |
ClinGen Ensembl |
|
|
CA148972004 rs755084214 |
224 | D>G | No |
ClinGen Ensembl |
|
|
CA365976675 rs1401308255 |
224 | D>N | No |
ClinGen TOPMed |
|
|
rs1172569818 CA365976730 |
226 | K>I | No |
ClinGen TOPMed |
|
|
rs781352985 CA4038805 |
230 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs201466855 CA4038807 |
231 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1341962833 CA365976861 |
232 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 234 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 236 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4038810 rs769133423 |
237 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1275628290 CA365961472 |
240 | I>T | No |
ClinGen gnomAD |
|
|
CA4038835 rs370382407 |
240 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA148941842 rs541715910 |
247 | H>P | No |
ClinGen Ensembl |
|
|
rs769497938 CA4038838 |
252 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4038837 rs745360299 |
252 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1418479569 CA365961755 |
253 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA365961911 rs1199517261 |
258 | D>G | No |
ClinGen gnomAD |
|
|
rs200611710 CA4038840 |
260 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 260 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4038843 rs761594731 |
263 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 263 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148528112 CA4038842 |
263 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1369799518 CA365962034 |
264 | W>* | No |
ClinGen TOPMed |
|
|
CA4038844 rs767425114 |
265 | N>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 266 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4038846 rs760716538 |
269 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs766497214 CA4038847 |
270 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1209204706 CA365962338 |
271 | K>E | No |
ClinGen gnomAD |
|
|
CA365962389 rs1484288641 |
275 | T>I | No |
ClinGen TOPMed |
|
|
rs1562457807 CA365962408 |
276 | I>M | No |
ClinGen Ensembl |
|
|
rs779080359 CA4038850 |
276 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4038851 rs753119546 |
277 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1344628002 CA365962412 |
277 | T>S | No |
ClinGen gnomAD |
|
|
CA365962432 rs1250921196 |
279 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 286 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1212968857 CA365965621 |
289 | P>L | No |
ClinGen gnomAD |
|
|
CA365965620 rs1212968857 |
289 | P>R | No |
ClinGen gnomAD |
|
|
rs765484388 CA4038868 |
295 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 299 | E>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1361195898 CA365965945 |
300 | F>S | No |
ClinGen gnomAD |
|
|
CA365966020 rs1260626699 |
302 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1055712660 CA148949377 |
305 | S>F | No |
ClinGen Ensembl |
|
|
CA365966101 rs1364044805 |
305 | S>T | No |
ClinGen TOPMed |
|
|
CA365969772 rs1270081918 |
307 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 307 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146827718 CA4038896 |
308 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA148961943 rs146827718 |
308 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1291801945 CA365969809 |
310 | I>F | No |
ClinGen TOPMed |
|
|
CA4038899 rs752308345 |
321 | V>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1074339 rs746797063 COSM1595956 CA4038902 |
330 | M>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA365970167 rs1300619550 |
333 | K>R | No |
ClinGen gnomAD |
|
|
CA148961969 rs762859137 |
334 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA4038904 rs781156895 |
342 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346751995 CA365970312 |
342 | Y>H | No |
ClinGen gnomAD |
|
|
CA4038905 rs745843611 |
343 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769876058 CA4038906 |
344 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1562478379 CA365970368 |
345 | V>F | No |
ClinGen Ensembl |
|
|
rs775712609 CA4038907 |
346 | D>G | No |
ClinGen ExAC |
|
| TCGA novel | 347 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371266728 CA4038908 |
349 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1472724231 CA365970446 |
351 | C>Y | No |
ClinGen TOPMed |
|
|
rs1394529318 CA365970529 |
357 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4038932 rs776334890 |
358 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA4038934 rs369824467 |
360 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA148963005 rs929344352 |
360 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1207035601 CA365970751 |
362 | P>T | No |
ClinGen gnomAD |
|
|
rs1451163061 CA365970771 |
363 | Y>C | No |
ClinGen gnomAD |
|
|
rs1446687958 CA365970765 |
363 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA4038936 rs761961030 |
365 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA365970840 rs1456792552 |
371 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 373 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773455653 CA4038938 |
376 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 377 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA148963042 rs1038220039 |
379 | A>E | No |
ClinGen TOPMed gnomAD |
|
| rs962005001 | 381 | N>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1477633199 CA365970979 |
381 | N>S | No |
ClinGen TOPMed |
|
|
rs972043541 CA148963069 |
382 | G>R | No |
ClinGen Ensembl |
|
|
CA4038955 rs769619244 |
385 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs747334867 CA4038956 |
386 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA4038957 rs771328521 |
389 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA365971054 rs1490062591 |
390 | Y>C | No |
ClinGen TOPMed |
|
|
CA365971074 rs777102981 |
393 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA4038958 rs777102981 |
393 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA4038959 rs760060849 |
394 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1252065017 CA365971087 |
395 | H>P | No |
ClinGen gnomAD |
|
| TCGA novel | 406 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs34215830 CA4038962 |
406 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA365971239 rs1193758467 |
407 | D>H | No |
ClinGen gnomAD |
|
|
CA365971254 rs1238836247 |
408 | C>R | No |
ClinGen TOPMed |
|
|
CA4038963 rs144099092 |
412 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1451978795 CA365971369 |
413 | I>S | No |
ClinGen gnomAD |
|
|
rs1221910786 CA365971398 |
415 | A>P | No |
ClinGen TOPMed |
|
|
CA4038964 rs750130163 |
416 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365971439 rs755841773 |
417 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4038965 rs755841773 |
417 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4038966 rs766297389 |
421 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1400299627 CA365971571 |
424 | K>Q | No |
ClinGen gnomAD |
|
|
CA4038967 rs753785640 |
425 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA148964541 rs146516430 |
425 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA365971596 rs1368904152 |
426 | Q>K | No |
ClinGen gnomAD |
|
|
rs140905377 CA4038968 |
427 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365971645 rs1309427448 |
428 | Y>* | No |
ClinGen gnomAD |
|
|
CA365971649 rs1360679117 |
429 | S>R | No |
ClinGen TOPMed |
|
| TCGA novel | 430 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759464439 CA4038987 |
433 | W>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 434 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 435 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1039084 CA4038988 VAR_035235 |
436 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs758390856 CA4038990 |
437 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA365972767 rs1354160410 |
443 | G>V | No |
ClinGen TOPMed |
|
|
rs773669115 CA4038993 |
448 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4038992 rs773669115 |
448 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 449 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1334840206 CA365972951 |
450 | I>M | No |
ClinGen TOPMed |
|
| TCGA novel | 450 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1323780293 CA365972981 |
452 | I>V | No |
ClinGen TOPMed |
|
|
CA4039009 rs762982125 |
455 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4039010 rs764015802 |
461 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 463 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 473 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 477 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1395049129 CA365973631 |
483 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA365973717 rs1386128441 |
486 | R>K | No |
ClinGen TOPMed |
|
|
rs1441502797 CA365973729 |
486 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 488 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1330191466 CA365973777 |
489 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1321008374 CA365973766 |
489 | D>N | No |
ClinGen gnomAD |
|
|
rs1271524688 CA365973840 |
492 | P>Q | No |
ClinGen gnomAD |
|
|
CA365973843 rs1271524688 |
492 | P>R | No |
ClinGen gnomAD |
|
|
CA365973883 rs761855511 |
494 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4039031 rs761855511 |
494 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365973910 rs1200268468 |
495 | D>G | No |
ClinGen TOPMed |
|
|
rs1259157262 CA365973955 |
496 | I>N | No |
ClinGen gnomAD |
|
|
CA365973945 rs1562481895 |
496 | I>V | No |
ClinGen Ensembl |
|
|
rs1481429268 CA365974001 |
498 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 499 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4039032 RCV000960259 rs148830578 |
502 | Y>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4039033 rs374645940 |
504 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 505 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1289206864 CA365974191 |
506 | I>F | No |
ClinGen gnomAD |
|
| TCGA novel | 508 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1218245810 CA365974257 |
510 | C>R | No |
ClinGen gnomAD |
|
|
rs1476322591 CA365974334 |
513 | S>N | No |
ClinGen gnomAD |
|
|
rs1170607317 CA365974349 |
514 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA365974367 rs1192648659 |
515 | M>T | No |
ClinGen gnomAD |
|
|
rs1476724333 CA365974358 |
515 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 516 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4039039 rs202184750 |
519 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1161000934 CA365974439 |
519 | A>V | No |
ClinGen gnomAD |
|
|
rs756782066 CA4039040 |
520 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA4039041 rs780884370 |
524 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs775069417 CA4039044 |
527 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA365974594 rs1436374561 |
529 | R>G | No |
ClinGen TOPMed |
|
|
rs1294289426 CA365974602 |
529 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1243231490 CA365974687 |
533 | Q>L | No |
ClinGen gnomAD |
|
|
CA365974765 rs1351496082 |
538 | E>D | No |
ClinGen gnomAD |
|
|
CA4039046 rs201030346 |
538 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365974806 rs1320652080 |
540 | I>T | No |
ClinGen TOPMed |
|
|
rs773938856 CA148965895 |
541 | P>L | No |
ClinGen Ensembl |
|
|
rs1010729145 CA148966330 |
542 | M>L | No |
ClinGen TOPMed |
|
|
CA148966327 rs1010729145 |
542 | M>V | No |
ClinGen TOPMed |
|
|
rs780794214 CA365975453 |
546 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780794214 CA4039060 |
546 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA148966346 rs28546347 |
549 | Y>* | No |
ClinGen Ensembl |
|
|
rs538943058 CA4039062 |
549 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745376252 CA4039061 |
549 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs375325921 CA4039063 |
551 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367995260 CA4039064 |
553 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367995260 CA4039065 |
553 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4039066 rs201735696 |
556 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA148966387 rs748019156 |
557 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4039067 rs748019156 |
557 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365975709 rs375927984 |
559 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365975710 rs375927984 |
559 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375927984 CA4039069 |
559 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4039070 rs760779761 |
562 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA148966432 rs964500585 |
562 | P>S | No |
ClinGen TOPMed |
|
|
rs1441642414 CA365975826 |
564 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs138013082 CA4039072 |
566 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4039073 rs759712780 |
567 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 567 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs959329086 CA148966439 |
569 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs955968433 CA148966442 |
573 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA365975956 rs1448663918 |
574 | P>S | No |
ClinGen gnomAD |
|
|
CA4039075 rs370176356 |
575 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs763473241 CA4039076 |
576 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA365976010 rs1269102313 |
578 | P>L | No |
ClinGen gnomAD |
|
|
CA365976032 rs1196757011 |
580 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1431061849 CA365976048 |
581 | S>C | No |
ClinGen gnomAD |
|
|
CA4039078 rs764661109 |
582 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1171652773 CA365976088 |
585 | T>A | No |
ClinGen TOPMed |
|
|
rs952342078 CA148966471 |
586 | S>G | No |
ClinGen Ensembl |
|
|
CA365976148 rs1169170956 |
589 | S>* | No |
ClinGen gnomAD |
|
|
rs1467473857 CA365976144 |
589 | S>A | No |
ClinGen gnomAD |
|
|
CA365976187 rs1462087441 |
592 | G>V | No |
ClinGen gnomAD |
|
|
CA365976192 rs1478262634 |
593 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA365976196 COSM1595954 rs1295359555 COSM1074341 |
594 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA4039082 rs369192295 |
594 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369192295 CA4039081 |
594 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4039083 rs753462764 |
595 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4039085 rs778593617 |
599 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs771894828 CA4039087 |
601 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA148972293 rs908164453 |
603 | K>R | No |
ClinGen TOPMed |
|
|
rs908164453 CA148972275 |
603 | K>T | No |
ClinGen TOPMed |
|
| TCGA novel | 605 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA148972297 rs974699665 |
605 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA365977563 rs1262897665 |
609 | Q>H | No |
ClinGen gnomAD |
|
|
rs1457477211 CA365977579 |
611 | P>S | No |
ClinGen TOPMed |
|
|
rs1159915307 CA365977730 |
622 | V>F | No |
ClinGen gnomAD |
|
|
rs921511620 CA365977854 |
627 | E>D | No |
ClinGen TOPMed |
|
|
rs745942373 CA4039110 |
629 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA148972320 rs932927025 |
633 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs748100751 CA4039114 |
638 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA148972347 rs912765928 |
641 | Y>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 643 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 646 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365979117 rs1364915540 |
647 | G>S | No |
ClinGen TOPMed |
|
|
CA4039144 rs762510137 |
649 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs921697860 CA148973903 |
650 | N>D | No |
ClinGen TOPMed |
|
|
CA4039145 rs751269588 |
650 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1350172517 CA365979210 |
652 | I>V | No |
ClinGen gnomAD |
|
|
CA4039147 rs767372724 |
653 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1272651990 CA365979240 |
654 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4039148 rs750317521 |
657 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1368353674 CA365979335 |
660 | K>Q | No |
ClinGen Ensembl |
|
|
CA4039149 rs368337313 |
661 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365979348 rs368337313 |
661 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs557444964 CA148973934 |
664 | L>F | No |
ClinGen Ensembl |
|
|
CA4039151 rs753960350 |
665 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA4039153 rs778980215 |
666 | L>M | No |
ClinGen ExAC |
|
|
CA148973942 rs947715326 |
668 | T>S | No |
ClinGen TOPMed |
|
|
CA4039156 rs778117239 |
669 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA148973943 rs201635755 |
669 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201635755 CA365979430 |
669 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201635755 CA4039155 |
669 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 670 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771418281 CA4039158 |
672 | Y>D | No |
ClinGen ExAC |
|
| TCGA novel | 673 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365979505 rs1194083499 |
676 | D>E | No |
ClinGen gnomAD |
|
|
COSM1133750 CA365979538 COSM421044 rs1411307159 |
679 | R>Q | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs768231727 CA4039161 |
679 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169805633 CA365979581 COSM1227949 COSM1227950 |
683 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs534581572 CA148974075 |
683 | R>Q | No |
ClinGen 1000Genomes TOPMed |
|
|
rs761528992 CA4039163 |
686 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1160860099 CA365979649 |
689 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4039193 rs752810785 |
695 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1562252608 CA365980615 |
698 | D>G | No |
ClinGen Ensembl |
|
|
rs1255635289 CA365980631 |
699 | I>T | No |
ClinGen TOPMed |
|
|
CA365980641 rs764272275 |
700 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA4039195 rs764272275 |
700 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA4039196 rs376970935 |
702 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 702 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA148979379 rs930734577 |
703 | T>I | No |
ClinGen TOPMed |
|
|
rs781537472 CA4039198 |
703 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs940266975 CA148979392 |
704 | V>A | No |
ClinGen Ensembl |
|
|
rs140102693 CA4039199 |
704 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365980696 rs140102693 |
704 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1303593645 CA365980710 |
705 | V>I | No |
ClinGen gnomAD |
|
|
rs1332639746 CA365980727 |
706 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA148979399 rs751124208 |
709 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751124208 CA148979398 |
709 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780490421 CA4039201 |
709 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365980784 rs780490421 |
709 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4039200 rs751124208 |
709 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1041636048 CA148979409 |
710 | C>S | No |
ClinGen Ensembl |
|
|
CA148979422 rs1040009085 |
711 | K>Q | No |
ClinGen TOPMed |
|
|
rs1582959889 CA365980822 |
712 | S>P | No |
ClinGen Ensembl |
|
|
CA365980847 rs1220006045 |
714 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA365980850 rs1220006045 |
714 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs927695048 CA148982846 |
717 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs538460661 CA4039216 |
718 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs972391773 CA148982864 |
720 | P>S | No |
ClinGen TOPMed |
|
|
CA365981722 rs1266883883 |
723 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1353817809 CA365981731 |
724 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA365981739 rs1222288457 |
725 | D>Y | No |
ClinGen gnomAD |
|
|
rs1264366095 CA365981810 |
730 | N>S | No |
ClinGen gnomAD |
|
|
CA148982867 rs558583326 |
733 | I>L | No |
ClinGen gnomAD |
|
|
CA365981838 rs558583326 |
733 | I>V | No |
ClinGen gnomAD |
|
|
rs747871908 CA148982882 |
734 | E>A | No |
ClinGen gnomAD |
|
|
rs747871908 CA365981853 |
734 | E>G | No |
ClinGen gnomAD |
|
|
CA365981872 rs1192165867 |
736 | V>M | No |
ClinGen gnomAD |
|
|
CA4039227 rs746603587 |
744 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1200715879 CA365982007 |
745 | K>R | No |
ClinGen TOPMed |
|
|
rs777287411 CA148982980 |
749 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA365982062 rs1260691456 |
750 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA365982070 rs1483861056 |
751 | I>L | No |
ClinGen gnomAD |
|
|
rs1188873584 CA365982077 |
751 | I>R | No |
ClinGen gnomAD |
|
|
rs955250231 CA149438294 |
752 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4039241 rs116277973 RCV000958884 |
754 | M>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA366201388 rs1433513688 |
754 | M>V | No |
ClinGen gnomAD |
|
|
rs1331428498 CA366201424 |
759 | S>G | No |
ClinGen gnomAD |
|
|
rs1582986388 CA366201458 |
764 | L>I | No |
ClinGen Ensembl |
|
|
CA149438300 rs771728840 |
767 | D>G | No |
ClinGen gnomAD |
|
|
rs1490105534 CA366201508 |
769 | D>V | No |
ClinGen gnomAD |
|
|
CA366201513 rs1194337982 |
770 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA366201512 rs1194337982 |
770 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4039264 rs780602579 |
771 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1194664915 CA366201546 |
775 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1166808729 CA366201555 |
776 | S>G | No |
ClinGen gnomAD |
|
|
CA4039266 rs755704770 |
776 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs373591667 CA4039268 |
777 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373591667 CA4039267 |
777 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4039269 rs144076925 |
779 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4039271 rs562086945 |
786 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366201626 rs1430185942 |
787 | D>G | No |
ClinGen gnomAD |
|
|
rs772122708 CA4039272 |
788 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773179135 CA4039273 |
791 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1244057075 CA366201652 |
791 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 792 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366201661 rs1470316806 |
792 | E>D | No |
ClinGen TOPMed |
|
|
rs13199791 CA149439465 |
793 | A>S | No |
ClinGen gnomAD |
|
|
rs13199791 CA366201663 |
793 | A>T | No |
ClinGen gnomAD |
|
|
CA4039274 rs760867732 |
793 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755286576 CA4039278 |
794 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs755572870 CA149439470 |
794 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755572870 CA4039277 |
794 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs551024360 CA4039280 |
796 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs551024360 COSM1441081 COSM1441082 CA4039281 |
796 | A>T | lung large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs1445881766 CA366201680 |
796 | A>V | No |
ClinGen gnomAD |
|
|
CA4039283 rs369323937 |
797 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366201690 rs1420734385 |
798 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs766005346 CA4039284 |
801 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1344560206 CA366201722 |
802 | T>M | No |
ClinGen TOPMed |
|
|
CA149439480 rs988227002 |
804 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4039289 rs185276341 |
805 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs185276341 CA4039288 |
805 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366201743 rs1314683910 |
806 | K>R | No |
ClinGen gnomAD |
|
|
rs777806209 COSM1441084 COSM1441083 CA4039290 |
807 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4039293 rs776932366 |
809 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279184279 CA366201775 |
811 | P>R | No |
ClinGen gnomAD |
|
|
rs770240405 CA4039295 |
812 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs978689003 CA149439490 |
813 | P>S | No |
ClinGen TOPMed |
|
|
rs763418862 CA4039297 |
814 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4039298 rs763418862 |
814 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4039300 rs760048144 |
817 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 819 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA149439497 rs1042246121 |
820 | T>A | No |
ClinGen gnomAD |
|
|
rs1308870876 CA366201828 |
820 | T>M | No |
ClinGen gnomAD |
|
|
rs1468362038 CA366201832 |
821 | L>P | No |
ClinGen gnomAD |
|
|
CA149439502 rs1003663431 |
822 | G>E | No |
ClinGen Ensembl |
|
|
rs764918117 CA4039304 |
826 | V>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 829 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4039305 rs147585794 |
831 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758278685 CA4039306 |
833 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 833 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs534413042 CA4039308 |
834 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs534413042 CA366201906 |
834 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777556534 CA4039307 |
834 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1325583848 CA366201911 |
835 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 835 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366201933 rs1221215852 |
838 | R>T | No |
ClinGen gnomAD |
|
|
CA366201943 rs1276743916 |
840 | L>V | No |
ClinGen TOPMed |
|
|
rs1346101466 CA366201963 |
843 | V>I | No |
ClinGen TOPMed |
|
|
CA366201970 rs1225556893 |
844 | I>V | No |
ClinGen gnomAD |
|
|
CA366201978 rs1197211309 |
845 | V>L | No |
ClinGen gnomAD |
|
|
CA4039309 rs757336851 |
846 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA366201989 rs1437662545 |
847 | P>T | No |
ClinGen gnomAD |
|
|
CA366202000 rs1432162850 |
848 | S>R | No |
ClinGen gnomAD |
|
|
rs1562269758 CA366202026 |
850 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs757885363 CA4039331 |
851 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000762439 rs750530435 CA4039332 |
853 | R>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA4039333 rs756323961 |
856 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4039334 rs780084478 |
858 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1047793203 CA149440431 |
859 | L>V | No |
ClinGen gnomAD |
|
|
CA4039336 rs768863916 |
859 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4039338 rs748589128 |
861 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4039337 rs748589128 |
861 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325287614 CA366202122 |
865 | D>E | No |
ClinGen gnomAD |
|
|
rs1180914631 CA366202120 |
865 | D>V | No |
ClinGen TOPMed |
|
|
CA366202125 rs1481862442 |
866 | T>A | No |
ClinGen TOPMed |
|
|
CA366202142 rs1410903068 |
869 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4039340 rs773773826 |
871 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773773826 CA366202158 |
871 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366202177 rs1222176975 |
874 | A>S | No |
ClinGen gnomAD |
|
|
CA4039342 rs769358058 |
874 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4039344 rs762695472 |
875 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366202197 rs1330364697 |
877 | P>H | No |
ClinGen gnomAD |
|
|
rs763743327 CA366202196 |
877 | P>S | No |
ClinGen ExAC TOPMed |
|
|
CA4039345 rs763743327 |
877 | P>T | No |
ClinGen ExAC TOPMed |
|
|
rs1424431412 CA366202207 |
878 | W>C | No |
ClinGen gnomAD |
|
|
rs944229378 CA149440442 |
879 | R>I | No |
ClinGen Ensembl |
|
|
rs751343098 CA366202238 |
882 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366202235 rs1352493411 |
882 | N>S | No |
ClinGen TOPMed |
|
|
CA149440445 rs1039901675 |
883 | V>I | No |
ClinGen Ensembl |
|
|
CA366202266 rs1442584714 |
887 | K>E | No |
ClinGen gnomAD |
|
|
rs761771166 CA4039347 |
888 | D>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 888 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4039348 rs767552280 |
889 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 889 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs28453000 CA149440451 |
893 | L>W | No |
ClinGen Ensembl |
|
|
CA4039351 rs138876354 |
894 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753959575 CA366202328 |
895 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753959575 CA4039352 |
895 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779043751 CA4039354 |
896 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4039353 COSM1144037 COSM594682 rs143796366 |
896 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4039356 rs772482367 |
897 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4039355 rs748507714 |
897 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA4039358 rs747518217 |
898 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4039357 rs778192990 |
898 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1409654558 CA366202349 |
900 | S>P | No |
ClinGen TOPMed |
|
|
rs1205605302 CA366202354 |
901 | V>I | No |
ClinGen gnomAD |
|
|
CA149440463 rs372889334 |
902 | S>F | No |
ClinGen Ensembl |
|
|
CA4039361 rs748794487 |
905 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366202389 rs1477520024 |
907 | Q>E | No |
ClinGen TOPMed |
|
|
CA149440469 rs938776559 |
909 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA366202414 rs1420609267 |
910 | S>T | No |
ClinGen gnomAD |
|
|
CA149440471 rs35542358 |
911 | E>V | No |
ClinGen Ensembl |
|
| TCGA novel | 912 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 912 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 915 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1469929715 CA366202462 |
917 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4039364 rs774209095 |
920 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366202524 rs1206826238 |
925 | V>G | No |
ClinGen TOPMed |
|
|
CA366202519 rs1403191447 |
925 | V>I | No |
ClinGen gnomAD |
|
|
CA4039365 rs761646605 |
929 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4039367 CA4039366 rs767427616 |
931 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 932 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760686831 CA4039368 |
934 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA366202580 rs1306962746 |
934 | A>V | No |
ClinGen gnomAD |
|
|
rs142760937 CA4039369 |
937 | Q>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1261346981 CA366202608 |
938 | N>S | No |
ClinGen gnomAD |
|
|
rs1322864689 CA366202615 |
939 | I>S | No |
ClinGen gnomAD |
|
|
rs1009917245 CA149440488 |
940 | T>R | No |
ClinGen gnomAD |
|
|
CA366202621 rs1234795045 |
940 | T>S | No |
ClinGen gnomAD |
|
|
rs1175267008 CA366202630 COSM373847 |
941 | E>D | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs752927971 COSM1074346 CA4039373 COSM1595952 |
943 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs778139463 CA4039375 |
944 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1295695845 CA366202654 |
945 | V>A | No |
ClinGen gnomAD |
|
|
CA4039377 rs757757114 COSM1595950 COSM1074348 |
947 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs200165087 CA4039378 |
947 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs757057243 CA4039379 |
950 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140173608 CA4039380 |
952 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1281878926 CA366202721 |
956 | S>G | No |
ClinGen gnomAD |
|
|
rs1582999463 CA366202724 |
956 | S>T | No |
ClinGen Ensembl |
|
|
CA4039383 rs146074378 |
965 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773121525 CA4039384 |
968 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA366202807 rs1195199395 |
968 | I>V | No |
ClinGen TOPMed |
|
|
rs1247293328 CA366202818 |
969 | M>I | No |
ClinGen TOPMed |
|
|
CA366202813 rs1454550246 |
969 | M>V | No |
ClinGen TOPMed |
|
|
CA149440501 rs138858870 |
970 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA149440499 rs138858870 |
970 | T>N | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 972 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4039409 rs775522883 |
975 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA4039410 rs763057270 |
978 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs751747104 CA4039412 |
981 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA149440588 rs878895636 |
982 | V>G | No |
ClinGen Ensembl |
|
|
rs762174578 CA4039413 |
982 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366202919 rs1316039086 |
983 | Y>C | No |
ClinGen gnomAD |
|
|
rs767806584 CA4039414 |
987 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA366202950 rs1420044453 |
988 | T>A | No |
ClinGen gnomAD |
|
|
CA4039415 rs750897111 |
988 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366202958 rs1312662320 |
989 | N>S | No |
ClinGen gnomAD |
|
|
CA366202965 rs1470179317 |
990 | M>K | No |
ClinGen TOPMed |
|
|
CA366202964 rs1355296162 |
990 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs539017052 CA4039417 |
991 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756669261 COSM483513 COSM1137436 CA4039416 |
991 | R>W | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA366202975 rs1213732453 |
992 | I>V | No |
ClinGen TOPMed |
|
|
CA4039418 rs752251760 |
993 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1327891345 CA366202986 |
994 | R>G | No |
ClinGen TOPMed |
|
|
rs1444820622 CA366202996 |
995 | T>M | No |
ClinGen gnomAD |
|
|
CA366203016 rs1258487302 |
998 | F>L | No |
ClinGen TOPMed |
|
|
CA4039420 rs777508612 |
999 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1462390200 CA366203026 |
999 | T>N | No |
ClinGen gnomAD |
|
|
CA366203033 rs1368282262 |
1000 | N>K | No |
ClinGen gnomAD |
|
|
rs746646121 CA4039421 |
1000 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4039422 rs142071065 |
1001 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366203049 rs1562270534 |
1003 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1009 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4039423 rs780870401 |
1010 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4039425 rs150857550 |
1018 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs960515353 CA149440605 |
1019 | S>N | No |
ClinGen TOPMed |
|
|
rs983262588 CA149440607 |
1022 | T>I | No |
ClinGen Ensembl |
|
|
rs763004145 CA4039427 |
1023 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA4039428 rs768730306 |
1025 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4039429 rs774596901 |
1026 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1255118869 CA366203244 |
1029 | M>I | No |
ClinGen gnomAD |
|
|
COSM1672819 rs757798078 COSM1672818 CA366203254 |
1031 | G>C | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs757798078 CA149442672 |
1031 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 1031 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366203268 rs1389062827 |
1033 | L>V | No |
ClinGen TOPMed |
|
|
rs768676732 CA4039446 |
1035 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA149442675 rs1007697569 |
1037 | V>G | No |
ClinGen gnomAD |
|
|
CA4039447 rs774275543 |
1038 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs527429174 CA149442678 |
1040 | P>L | No |
ClinGen gnomAD |
|
|
rs748300898 CA4039448 |
1042 | A>V | No |
ClinGen ExAC |
|
|
rs772181380 CA366203342 |
1045 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1046 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761064043 CA4039451 |
1048 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs777236916 CA4039453 |
1052 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA149442687 rs915508045 |
1058 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs750999794 CA4039456 |
1058 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1058 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA149442689 rs368603737 |
1060 | D>G | No |
ClinGen ESP |
|
|
CA366203440 rs1303728126 |
1060 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4039459 rs756856808 |
1063 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA366203470 rs1160102354 |
1064 | L>V | No |
ClinGen TOPMed |
|
|
rs752686163 CA4039484 |
1071 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs566577102 CA366204636 |
1072 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs566577102 CA4039485 |
1072 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778020321 CA366204641 |
1073 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs778020321 CA4039486 |
1073 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA366204663 rs1264677142 |
1076 | S>T | No |
ClinGen TOPMed |
|
|
rs1215936281 CA366204677 |
1078 | A>V | No |
ClinGen TOPMed |
|
|
CA4039487 rs114079575 RCV000896000 |
1079 | Q>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA149444532 rs114079575 |
1079 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA149444535 rs996222122 |
1082 | P>T | No |
ClinGen Ensembl |
|
|
CA4039489 rs781625793 |
1084 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA366204720 rs1421780091 |
1085 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1421780091 CA366204719 |
1085 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA366204718 rs1421780091 |
1085 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA366204722 rs1164057060 |
1086 | G>S | No |
ClinGen gnomAD |
|
|
rs1364308540 CA366204729 |
1087 | I>F | No |
ClinGen gnomAD |
|
|
CA4039491 rs770205429 |
1087 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA4039490 rs746200697 |
1087 | I>T | No |
ClinGen ExAC |
|
|
rs763541315 COSM241797 CA4039493 |
1090 | V>I | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA366204752 rs1338244335 |
1091 | K>E | No |
ClinGen gnomAD |
|
|
CA149444542 rs984071051 |
1093 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA366204769 rs1308415614 |
1093 | A>V | No |
ClinGen gnomAD |
|
|
CA4039496 rs760248876 |
1094 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1357509887 CA366204797 |
1098 | V>A | No |
ClinGen TOPMed |
|
|
rs766003404 CA4039497 |
1099 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA366204813 rs1476292873 |
1101 | L>V | No |
ClinGen gnomAD |
|
|
rs199545030 CA149444548 COSM1441085 COSM1441086 |
1103 | R>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs753502738 CA4039498 |
1103 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1106 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs893425430 CA149444551 |
1108 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4039501 rs752526365 |
1109 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1482192639 CA366204859 |
1109 | D>G | No |
ClinGen gnomAD |
|
|
rs765112385 CA4039500 |
1109 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1111 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1250899705 CA366204872 |
1111 | R>K | No |
ClinGen gnomAD |
|
|
rs1400009715 CA366204880 |
1112 | G>A | No |
ClinGen TOPMed |
|
|
CA4039503 rs777896867 |
1117 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 1120 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4039504 rs751681955 |
1121 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366204954 rs1469849782 |
1123 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs781505319 CA4039506 |
1125 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461533376 CA366204979 |
1127 | S>P | No |
ClinGen TOPMed |
|
|
CA366204987 rs1435507851 |
1128 | S>N | No |
ClinGen gnomAD |
|
|
rs1039243195 CA149444560 |
1131 | S>L | No |
ClinGen TOPMed |
|
|
rs1319761107 CA366205012 |
1132 | F>L | No |
ClinGen TOPMed |
|
|
rs776355096 CA149444563 |
1135 | H>L | No |
ClinGen TOPMed |
|
|
CA4039508 rs770008070 |
1137 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1223586143 CA366205086 |
1140 | M>K | No |
ClinGen gnomAD |
|
|
rs376397766 CA149444861 |
1143 | Y>C | No |
ClinGen ESP TOPMed |
|
|
rs907789246 CA149444863 |
1144 | K>R | No |
ClinGen TOPMed |
|
|
rs1228897747 CA366205127 |
1145 | D>E | No |
ClinGen TOPMed |
|
|
CA366205159 rs1342259127 |
1149 | Y>C | No |
ClinGen TOPMed |
|
|
CA366205173 rs1186791445 |
1151 | F>I | No |
ClinGen gnomAD |
No associated diseases with Q5T5C0
1 regional properties for Q5T5C0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Rab-GAP-TBC domain | 38 - 234 | IPR000195 |
Functions
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| acetylcholine-gated channel complex | A homo- or hetero-pentameric protein complex that forms a transmembrane channel through which ions may pass in response to acetylcholine binding. |
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| 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. |
| extrinsic component of neuronal dense core vesicle membrane | The component of the neuronal dense core vesicle membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| hippocampal mossy fiber to CA3 synapse | One of the giant synapses that form between the mossy fiber axons of dentate gyrus granule cells and the large complex spines of CA3 pyramidal cells. It consists of a giant bouton known as the mossy fiber expansion, synapsed to the complex, multiheaded spine (thorny excresence) of a CA3 pyramidal cell. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| SNARE complex | A protein complex involved in membrane fusion; a stable ternary complex consisting of a four-helix bundle, usually formed from one R-SNARE and three Q-SNAREs with an ionic layer sandwiched between hydrophobic layers. One well-characterized example is the neuronal SNARE complex formed of synaptobrevin 2, syntaxin 1a, and SNAP-25. |
| synaptic vesicle | A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
| myosin II binding | Binding to a class II myosin, any member of the class of 'conventional' double-headed myosins that includes muscle myosin. |
| syntaxin binding | Binding to a syntaxin, a SNAP receptor involved in the docking of synaptic vesicles at the presynaptic zone of a synapse. |
| syntaxin-1 binding | Binding to a syntaxin-1 SNAP receptor. |
7 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. |
| positive regulation of exocytosis | Any process that activates or increases the frequency, rate or extent of exocytosis. |
| 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 exocytosis | Any process that modulates the frequency, rate or extent of exocytosis. |
| regulation of protein secretion | Any process that modulates the frequency, rate or extent of the controlled release of a protein from a cell. |
| regulation of synaptic vesicle exocytosis | Any process that modulates the frequency, rate or extent of synaptic vesicle exocytosis. |
| regulation of synaptic vesicle priming | Any process that modulates the frequency, rate or extent of synaptic vesicle priming. Synaptic vesicle priming is the formation of SNARE-containing complexes, bringing synaptic vesicle membrane and plasma membranes into close proximity and thereby facilitating membrane fusion. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q15334 | LLGL1 | Lethal(2) giant larvae protein homolog 1 | Homo sapiens (Human) | PR |
| Q6P1M3 | LLGL2 | LLGL scribble cell polarity complex component 2 | Homo sapiens (Human) | PR |
| Q9Y2K9 | STXBP5L | Syntaxin-binding protein 5-like | Homo sapiens (Human) | PR |
| Q80Y17 | Llgl1 | Lethal(2) giant larvae protein homolog 1 | Mus musculus (Mouse) | PR |
| Q5DQR4 | Stxbp5l | Syntaxin-binding protein 5-like | Mus musculus (Mouse) | PR |
| Q8K400 | Stxbp5 | Syntaxin-binding protein 5 | Mus musculus (Mouse) | PR |
| Q8K4K5 | Llgl1 | Lethal(2) giant larvae protein homolog 1 | Rattus norvegicus (Rat) | PR |
| Q9WU70 | Stxbp5 | Syntaxin-binding protein 5 | Rattus norvegicus (Rat) | PR |
| Q5SQE2 | stxbp5l | Syntaxin-binding protein 5-like | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q7SZE3 | llgl2 | LLGL scribble cell polarity complex component 2 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRKFNIRKVL | DGLTAGSSSA | SQQQQQQHPP | GNREPEIQET | LQSEHFQLCK | TVRHGFPYQP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SALAFDPVQK | ILAVGTQTGA | LRLFGRPGVE | CYCQHDSGAA | VIQLQFLINE | GALVSALADD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TLHLWNLRQK | RPAILHSLKF | CRERVTFCHL | PFQSKWLYVG | TERGNIHIVN | VESFTLSGYV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IMWNKAIELS | SKSHPGPVVH | ISDNPMDEGK | LLIGFESGTV | VLWDLKSKKA | DYRYTYDEAI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HSVAWHHEGK | QFICSHSDGT | LTIWNVRSPA | KPVQTITPHG | KQLKDGKKPE | PCKPILKVEF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KTTRSGEPFI | ILSGGLSYDT | VGRRPCLTVM | HGKSTAVLEM | DYSIVDFLTL | CETPYPNDFQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EPYAVVVLLE | KDLVLIDLAQ | NGYPIFENPY | PLSIHESPVT | CCEYFADCPV | DLIPALYSVG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ARQKRQGYSK | KEWPINGGNW | GLGAQSYPEI | IITGHADGSV | KFWDASAITL | QVLYKLKTSK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VFEKSRNKDD | RPNTDIVDED | PYAIQIISWC | PESRMLCIAG | VSAHVIIYRF | SKQEVITEVI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PMLEVRLLYE | INDVETPEGE | QPPPLPTPVG | GSNPQPIPPQ | SHPSTSSSSS | DGLRDNVPCL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KVKNSPLKQS | PGYQTELVIQ | LVWVGGEPPQ | QITSLAVNSS | YGLVVFGNCN | GIAMVDYLQK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| AVLLNLGTIE | LYGSNDPYRR | EPRSPRKSRQ | PSGAGLCDIS | EGTVVPEDRC | KSPTSGSSSP |
| 730 | 740 | 750 | 760 | 770 | 780 |
| HNSDDEQKMN | NFIEKVKTKS | RKFSKMVAND | IAKMSRKLSL | PTDLKPDLDV | KDNSFSRSRS |
| 790 | 800 | 810 | 820 | 830 | 840 |
| SSVTSIDKES | REAISALHFC | ETFTRKTDSS | PSPCLWVGTT | LGTVLVIALN | LPPGGEQRLL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| QPVIVSPSGT | ILRLKGAILR | MAFLDTTGCL | IPPAYEPWRE | HNVPEEKDEK | EKLKKRRPVS |
| 910 | 920 | 930 | 940 | 950 | 960 |
| VSPSSSQEIS | ENQYAVICSE | KQAKVISLPT | QNCAYKQNIT | ETSFVLRGDI | VALSNSICLA |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| CFCANGHIMT | FSLPSLRPLL | DVYYLPLTNM | RIARTFCFTN | NGQALYLVSP | TEIQRLTYSQ |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| ETCENLQEML | GELFTPVETP | EAPNRGFFKG | LFGGGAQSLD | REELFGESSS | GKASRSLAQH |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| IPGPGGIEGV | KGAASGVVGE | LARARLALDE | RGQKLGDLEE | RTAAMLSSAE | SFSKHAHEIM |
| 1150 | |||||
| LKYKDKKWYQ | F |