Q9Y2K9
PR
Gene name |
STXBP5L (KIAA1006, LLGL4) |
Protein name |
Syntaxin-binding protein 5-like |
Names |
Lethal(2) giant larvae protein homolog 4, Tomosyn-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9515 |
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 Q9Y2K9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9Y2K9-F1 | Predicted | AlphaFoldDB |
885 variants for Q9Y2K9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 7 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367660600 CA2560991 |
13 | L>I | No |
ClinGen ESP ExAC |
|
|
rs1319633377 CA354350634 |
14 | T>S | No |
ClinGen TOPMed |
|
|
CA82450623 rs545659804 |
15 | A>T | No |
ClinGen Ensembl |
|
|
rs777950391 CA2560992 |
16 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs372103763 CA2560993 |
17 | S>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2560995 rs781740646 |
18 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs781740646 CA354350652 |
18 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA354350656 rs1227907988 |
19 | G>S | No |
ClinGen TOPMed |
|
|
rs946218196 CA82450624 |
19 | G>V | No |
ClinGen TOPMed |
|
|
rs1348245613 CA354350674 |
21 | G>V | No |
ClinGen gnomAD |
|
|
CA2560998 rs770260317 |
22 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 22 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354350685 rs1294362711 |
23 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA354350711 rs1576401140 |
26 | S>R | No |
ClinGen Ensembl |
|
|
CA2561000 rs552180027 |
29 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354350730 rs1312005448 |
29 | G>D | No |
ClinGen gnomAD |
|
|
rs200199275 CA2561001 |
32 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354350795 rs1228303266 |
36 | S>F | No |
ClinGen gnomAD |
|
|
rs768158902 CA2561002 |
38 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253258256 CA354350821 |
39 | P>L | No |
ClinGen gnomAD |
|
|
CA82450626 rs369920110 |
39 | P>S | No |
ClinGen gnomAD |
|
|
CA2561003 rs376766783 |
40 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761258495 CA2561004 |
41 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA2561005 rs531920379 |
43 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 44 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2561007 rs760520414 |
45 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA82450627 rs760520414 |
45 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 48 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 48 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1340092401 CA354350910 |
48 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1407166570 CA354350953 |
51 | Q>* | No |
ClinGen gnomAD |
|
|
rs753546265 CA2561009 |
52 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA82450628 rs865986725 |
52 | E>K | No |
ClinGen Ensembl |
|
|
rs548331769 CA2561010 |
53 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 54 | L>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2561011 rs369582607 |
55 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 56 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372245940 CA2561013 |
57 | E>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA354351037 rs372245940 |
57 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 60 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354351079 rs1282968798 |
62 | C>F | No |
ClinGen gnomAD |
|
|
CA82450629 rs201298118 |
63 | K>R | No |
ClinGen Ensembl |
|
|
CA2561030 rs751896123 |
64 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 65 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2561031 rs778876684 |
66 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA354350335 rs1339750383 |
67 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 68 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 71 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354350378 rs1211560543 |
73 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs780373690 CA2561035 |
74 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2561036 rs774756787 |
75 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA82455314 rs1022469648 |
80 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA354350430 rs1477863733 |
81 | V>D | No |
ClinGen gnomAD |
|
|
CA354350435 rs1171159038 |
82 | Q>* | No |
ClinGen gnomAD |
|
|
rs968613858 CA82455315 |
84 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA354350452 rs1435838523 |
84 | I>T | No |
ClinGen gnomAD |
|
|
CA2561039 rs747847172 |
84 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 86 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771686200 CA2561040 |
87 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA82455316 rs868361853 |
88 | G>E | No |
ClinGen Ensembl |
|
|
CA2561041 rs777299263 |
89 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770916793 CA2561043 |
91 | T>A | No |
ClinGen ExAC |
|
|
CA2561044 rs776363330 |
92 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs370219071 CA2561045 |
94 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs865873766 CA354350515 |
95 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs865873766 CA82455317 |
95 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2561046 rs769765531 |
96 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1456971517 CA354351427 |
97 | L>I | No |
ClinGen gnomAD |
|
|
rs1400781562 CA354351432 |
97 | L>R | No |
ClinGen gnomAD |
|
|
rs375855219 CA2561071 |
98 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs370427256 CA2561072 |
100 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1330385157 CA354351447 |
100 | P>H | No |
ClinGen gnomAD |
|
|
rs1330385157 CA354351448 |
100 | P>R | No |
ClinGen gnomAD |
|
|
rs375372992 CA82470792 |
101 | G>C | No |
ClinGen ESP TOPMed |
|
|
rs760939427 CA2561074 |
101 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA2561073 rs760939427 |
101 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2561076 rs760071219 |
102 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2561075 rs376698945 |
102 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354351462 rs1338445463 |
103 | D>G | No |
ClinGen gnomAD |
|
|
rs765688006 CA2561077 |
105 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2561078 rs753077093 |
106 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA354351498 rs1198308410 |
108 | H>P | No |
ClinGen gnomAD |
|
|
CA354351496 rs1378028263 |
108 | H>Y | No |
ClinGen TOPMed |
|
|
CA82470793 rs764512402 |
111 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2561080 rs764512402 |
111 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481840692 CA354351525 |
112 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA354351523 rs1481840692 |
112 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA82470794 rs987723386 |
113 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 113 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374466133 CA2561083 |
115 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1003892022 CA82470795 |
119 | F>Y | No |
ClinGen TOPMed |
|
|
CA82470796 rs1052832099 |
120 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs375292809 CA354351779 |
125 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747930759 COSM72845 CA2561108 |
125 | A>S | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2561109 rs375292809 COSM1418111 |
125 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2561111 rs201890335 |
126 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2561112 COSM1536286 rs538396189 |
127 | V>I | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA354351797 rs1452344978 |
128 | S>N | No |
ClinGen gnomAD |
|
|
rs1175373053 CA354351804 |
129 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA354351805 rs1175373053 |
129 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs763406849 CA2561114 |
130 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA82471388 rs752753755 |
130 | S>N | No |
ClinGen gnomAD |
|
|
CA354351817 rs1347085003 |
131 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA354351822 rs1576762353 |
132 | D>G | No |
ClinGen Ensembl |
|
|
CA354351820 rs1431687180 |
132 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2561115 rs769161978 |
134 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1419804539 CA354351844 |
135 | L>H | No |
ClinGen TOPMed |
|
|
rs762178563 CA2561117 |
137 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA354351861 rs1376773241 |
138 | W>G | No |
ClinGen gnomAD |
|
|
CA354351860 rs1376773241 |
138 | W>R | No |
ClinGen gnomAD |
|
|
CA354351871 rs767079159 |
139 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2561120 rs750164594 |
139 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2561118 rs767079159 |
139 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354351872 rs767079159 |
139 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 140 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766028400 CA2561121 |
140 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA354351887 rs79661914 |
142 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354351891 rs1264507104 |
142 | Q>H | No |
ClinGen gnomAD |
|
|
rs79661914 CA2561122 |
142 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354351893 rs1205381450 |
143 | K>Q | No |
ClinGen TOPMed |
|
|
CA2561124 rs754894291 |
144 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752442634 CA2561125 CA2561126 |
144 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs754894291 CA2561123 |
144 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354351909 rs1438979258 |
145 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 145 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2561127 rs181186953 |
147 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2561128 rs372035565 |
148 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs376559237 CA2561130 |
149 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs749337350 CA2561131 |
152 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1326971407 CA354351953 |
153 | F>L | No |
ClinGen gnomAD |
|
|
CA354351963 rs1157439696 |
154 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA82471390 rs200925938 |
155 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2561134 rs200925938 COSM3408155 |
155 | R>Q | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs774854327 CA2561133 |
155 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354351975 rs1386707087 |
156 | E>G | No |
ClinGen TOPMed |
|
|
rs369496199 CA2561135 COSM79069 |
157 | R>* | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 157 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773682107 CA2561136 |
157 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA354351117 rs1278120403 |
160 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1373555713 CA354351132 |
162 | H>Y | No |
ClinGen TOPMed |
|
|
rs1299421880 CA354351158 COSM1227958 |
165 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA2561177 CA2561176 rs778361831 |
166 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2561175 rs758987557 |
166 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 167 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2561178 rs771483252 |
170 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2561179 rs776841500 |
175 | E>D | No |
ClinGen ExAC |
|
| TCGA novel | 176 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs912329150 CA82482869 |
181 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2561181 rs769288987 |
182 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354351268 rs1435826054 |
182 | V>I | No |
ClinGen TOPMed |
|
|
CA2561183 rs762387745 |
183 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2561184 rs764022308 |
183 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 186 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2561185 rs774339284 |
189 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs761722902 COSM2157164 CA2561186 |
194 | I>V | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2561187 rs767393220 |
195 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354351385 rs1439874241 |
199 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA354351388 rs1301064326 |
199 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 201 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2561188 rs750146821 |
201 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA82483628 rs867821641 |
203 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1195675479 CA354351621 |
204 | T>I | No |
ClinGen gnomAD |
|
|
CA354351622 rs1195675479 |
204 | T>S | No |
ClinGen gnomAD |
|
|
rs763247609 CA2561209 |
205 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA354351633 rs1421465024 |
206 | T>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 208 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1363926846 CA354351654 |
209 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA354351701 rs1419669205 |
216 | D>G | No |
ClinGen gnomAD |
|
|
rs267599561 CA2561212 COSM3585868 |
216 | D>N | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA354351716 rs1461778391 |
218 | P>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 219 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1180027909 CA354351745 |
222 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 222 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2561237 rs370714622 |
224 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1309663858 CA354352003 |
225 | L>V | No |
ClinGen gnomAD |
|
|
CA354352016 rs1228703049 |
227 | G>C | No |
ClinGen gnomAD |
|
|
rs1280254346 CA354352024 |
228 | Y>C | No |
ClinGen gnomAD |
|
|
rs886043171 CA10605198 RCV000287765 |
229 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 229 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1192287866 CA354352061 |
234 | V>I | No |
ClinGen TOPMed |
|
|
CA354352087 rs1483346314 |
237 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA354352088 rs1483346314 |
237 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1577070040 CA916993216 |
240 | S>* | No |
ClinGen Ensembl |
|
|
CA2561241 rs202064473 |
241 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354352117 rs1259325673 |
241 | K>R | No |
ClinGen gnomAD |
|
|
CA354352136 rs1189041835 |
244 | E>A | No |
ClinGen gnomAD |
|
|
rs1394401226 CA354352142 |
245 | L>V | No |
ClinGen gnomAD |
|
|
CA2561243 rs371224305 |
246 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746964799 CA2561244 |
247 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2561245 rs770865583 |
249 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs375007836 CA82487231 |
249 | Y>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2561248 rs769001614 |
250 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2561247 rs745597035 |
250 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1237177324 CA354352183 COSM1536284 |
251 | E>D | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA354352177 rs1369404390 COSM1536285 |
251 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs370623024 CA2561266 |
253 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251682526 CA354352209 |
254 | H>N | No |
ClinGen TOPMed |
|
|
rs373901115 CA2561267 |
256 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 258 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1559805755 CA354352257 |
260 | H>L | No |
ClinGen Ensembl |
|
|
CA2561268 rs769765583 |
264 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 272 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354352395 rs773187305 |
278 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354352398 rs1473020440 |
279 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2561273 rs760742885 |
283 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA82487757 rs981104802 |
284 | R>C | No |
ClinGen Ensembl |
|
|
CA2561275 rs368493997 |
284 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354352446 rs1354433619 |
286 | F>C | No |
ClinGen gnomAD |
|
|
rs760015859 CA2561276 |
288 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1440716609 CA354352458 |
288 | T>S | No |
ClinGen gnomAD |
|
|
CA2561277 rs371884493 |
290 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200925621 CA2561304 |
295 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200925621 CA82494692 |
295 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775734500 CA2561305 |
295 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs200925621 CA2561303 |
295 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763308114 CA2561306 |
296 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1229142570 CA354353572 |
297 | R>K | No |
ClinGen TOPMed |
|
|
rs764357568 CA2561307 |
301 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA354353603 rs1391316690 |
301 | K>N | No |
ClinGen gnomAD |
|
|
rs1351545573 CA354353620 |
304 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 314 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA82494693 rs973137742 |
315 | T>I | No |
ClinGen TOPMed |
|
|
rs749911000 CA2561311 |
316 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA2561312 rs756142242 |
316 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325554049 CA354353713 |
317 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs779982844 CA2561313 |
318 | N>T | No |
ClinGen ExAC gnomAD |
|
| rs752443334 | 319 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757487745 CA2561338 |
320 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs757487745 CA82496924 |
320 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA354352517 rs1559881678 |
321 | P>R | No |
ClinGen Ensembl |
|
|
CA2561339 rs781328776 |
322 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1452735207 CA354352530 |
323 | I>T | No |
ClinGen gnomAD |
|
|
rs186768873 CA2561340 |
323 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1362736098 CA354352533 |
324 | I>V | No |
ClinGen gnomAD |
|
|
rs1331716017 CA354352556 |
327 | G>D | No |
ClinGen TOPMed |
|
|
CA354352558 rs1331716017 |
327 | G>V | No |
ClinGen TOPMed |
|
|
rs756271385 CA354352566 |
329 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1460714161 CA354352581 |
331 | Y>C | No |
ClinGen gnomAD |
|
|
rs1412358901 CA354352577 |
331 | Y>H | No |
ClinGen gnomAD |
|
|
CA354352593 rs1392747946 |
333 | K>E | No |
ClinGen gnomAD |
|
|
CA354352601 rs1387330219 |
334 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA354352602 rs1387330219 |
334 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1387330219 CA354352600 |
334 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2561344 rs369807784 |
334 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769002721 CA2561345 |
335 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411824680 CA354352628 |
338 | P>S | No |
ClinGen gnomAD |
|
|
CA354352637 rs1289207427 |
339 | S>N | No |
ClinGen gnomAD |
|
|
rs1334524732 CA354352648 |
341 | T>A | No |
ClinGen gnomAD |
|
|
CA2561346 rs555306958 |
343 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA354352664 rs1444011427 |
343 | M>T | No |
ClinGen TOPMed |
|
|
rs1357617292 CA354352704 |
349 | T>A | No |
ClinGen gnomAD |
|
|
rs565833558 CA2561347 |
349 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354352719 rs1249133610 |
351 | L>R | No |
ClinGen gnomAD |
|
|
CA354352737 rs1174925778 |
354 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1184196727 CA354352757 |
356 | P>R | No |
ClinGen TOPMed |
|
|
rs373254798 CA82496927 |
358 | V>I | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 361 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2561349 rs773057975 COSM3660118 |
364 | C>S | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA354352825 rs1183782935 |
366 | T>M | No |
ClinGen gnomAD |
|
| TCGA novel | 367 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1162502492 CA354352845 |
369 | P>L | No |
ClinGen gnomAD |
|
|
rs377436841 CA2561372 |
372 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2561373 rs762850694 |
375 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA354352910 rs1445299648 |
376 | Y>* | No |
ClinGen TOPMed |
|
|
rs751270078 CA2561375 |
376 | Y>C | No |
ClinGen ExAC TOPMed |
|
|
rs760972032 CA2561376 |
377 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2561378 RCV000784986 rs61996323 |
379 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs575168306 CA2561379 |
380 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 383 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1367940457 CA354352966 CA354352965 |
385 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1293924019 CA354352959 |
385 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 386 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354352968 rs1255962232 |
386 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1297642292 CA354352976 |
387 | I>T | No |
ClinGen gnomAD |
|
|
CA2561380 rs779114066 |
387 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA82497983 rs868794869 |
388 | V>L | No |
ClinGen Ensembl |
|
|
CA2561381 rs753298217 |
389 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207512824 CA354352990 |
390 | D>H | No |
ClinGen gnomAD |
|
|
CA82497984 rs1020533756 |
392 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs758935970 CA2561382 |
392 | T>R | No |
ClinGen ExAC |
|
|
rs778306672 CA2561383 |
394 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs765439453 CA2561400 |
398 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2561401 rs540280160 |
402 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs778078605 CA2561403 |
405 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2561404 rs752105786 |
406 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2561406 rs781593963 |
411 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA354353152 rs1377466255 |
412 | V>I | No |
ClinGen TOPMed |
|
|
rs202046287 CA82498497 |
415 | T>A | No |
ClinGen 1000Genomes |
|
|
rs1389661217 CA354353201 |
419 | A>S | No |
ClinGen TOPMed |
|
|
rs367712321 CA2561408 |
423 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA354353227 COSM2157336 rs1414571329 |
423 | P>S | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 425 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 427 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1559894890 CA354353263 |
428 | V>A | No |
ClinGen Ensembl |
|
|
rs1559894906 CA354353271 |
430 | Y>H | No |
ClinGen Ensembl |
|
|
CA354353273 rs1392893815 |
430 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2561410 rs185779271 |
432 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2561409 rs779560086 |
432 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2561412 rs572169555 |
434 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs908739628 CA82498499 |
434 | V>F | No |
ClinGen TOPMed |
|
|
CA2561411 rs572169555 |
434 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354353299 rs1180265485 |
435 | K>E | No |
ClinGen TOPMed |
|
|
rs748102751 CA2561413 |
436 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs771803301 CA2561414 |
438 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 438 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 439 | Q>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354353339 rs1272368617 |
440 | G>E | No |
ClinGen gnomAD |
|
|
rs1276893219 CA354353415 |
448 | I>M | No |
ClinGen gnomAD |
|
|
rs1483482099 CA354353416 |
449 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2561435 rs748068628 |
449 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771997976 CA2561436 |
451 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs746736616 CA354353435 |
452 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746736616 CA2561438 |
452 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA82498639 rs375342298 |
452 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2561439 rs377131506 |
454 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs991595885 CA82498640 |
455 | L>P | No |
ClinGen TOPMed |
|
|
CA2561441 rs763249604 |
456 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1371898567 CA354353473 |
458 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA2561442 rs764116141 |
459 | T>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768533171 CA2561443 |
461 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768533171 CA2561444 |
461 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369496457 CA82498642 |
466 | T>I | No |
ClinGen ESP |
|
|
rs768877763 CA2561460 |
472 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 472 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2561461 rs774310399 |
480 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA354353849 rs1437379665 |
481 | I>R | No |
ClinGen gnomAD |
|
|
CA354353848 rs1437379665 |
481 | I>T | No |
ClinGen gnomAD |
|
|
CA2561471 rs757982098 |
482 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327425569 CA354353855 |
482 | T>I | No |
ClinGen gnomAD |
|
|
rs572589116 CA2561472 |
485 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2561473 rs751583842 |
486 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757224986 CA2561474 |
487 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA354353882 rs1356216062 |
487 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA354353888 rs1349726584 |
488 | K>Q | No |
ClinGen TOPMed |
|
|
rs1163590235 CA354353892 |
488 | K>R | No |
ClinGen TOPMed |
|
|
CA82500017 rs1049911337 |
492 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA354353920 rs745621292 |
493 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2561476 rs745621292 |
493 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA82500018 rs888854964 |
494 | V>M | No |
ClinGen TOPMed |
|
|
rs1158672351 CA354353943 |
496 | E>G | No |
ClinGen TOPMed |
|
|
CA82500019 COSM225175 rs868293722 |
496 | E>K | NS [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1292490059 CA354353980 |
501 | G>A | No |
ClinGen Ensembl |
|
|
rs867142254 CA82500020 |
501 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 501 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201499652 CA2561478 |
503 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs186590757 CA2561477 |
503 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201499652 CA82500021 |
503 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1457281783 CA354354015 |
507 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA82500022 rs1019112915 |
509 | I>N | No |
ClinGen TOPMed |
|
|
rs761193088 CA2561482 |
510 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 511 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1406021553 CA354354071 |
514 | P>L | No |
ClinGen gnomAD |
|
|
rs1239527924 CA354354081 |
516 | A>P | No |
ClinGen TOPMed |
|
|
CA82500025 rs991651098 |
519 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA354354102 rs1490699900 |
519 | M>V | No |
ClinGen gnomAD |
|
|
CA82500026 rs951972806 |
522 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
CA354354171 rs1367313225 |
528 | I>L | No |
ClinGen TOPMed |
|
|
CA354354170 rs1367313225 |
528 | I>V | No |
ClinGen TOPMed |
|
|
CA2561485 rs760010389 |
533 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765503253 CA2561486 |
534 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1298210540 CA354354223 |
536 | A>E | No |
ClinGen TOPMed |
|
|
CA2561487 rs752440715 |
537 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354354245 rs1222560030 |
539 | I>M | No |
ClinGen gnomAD |
|
|
CA82500027 rs969567231 |
541 | Y>F | No |
ClinGen Ensembl |
|
|
CA354354311 rs1481847649 |
548 | I>T | No |
ClinGen gnomAD |
|
|
CA354354321 rs1244257735 |
550 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 553 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs192013385 CA2561510 |
556 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM3408157 CA354354385 rs1388311069 |
558 | R>* | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs370605827 CA2561512 |
558 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370605827 CA2561511 |
558 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2561513 rs184420053 |
559 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750424737 CA2561514 |
560 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs577441234 CA2561515 |
561 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354354414 rs1304923637 |
563 | V>I | No |
ClinGen gnomAD |
|
|
rs766228327 CA2561516 |
565 | D>N | No |
ClinGen ExAC gnomAD |
|
|
COSM1036887 CA354354436 rs1395057891 |
566 | I>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA82500240 rs1047093345 |
567 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA354354451 rs17249244 |
568 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs17249244 VAR_050076 CA2561517 |
568 | T>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2561519 rs778035269 |
571 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA82500242 rs891482921 COSM339448 |
572 | E>Q | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA354354483 rs1257481519 |
573 | T>R | No |
ClinGen gnomAD |
|
|
rs1323976884 CA354354498 |
575 | P>L | No |
ClinGen gnomAD |
|
|
rs747217368 CA2561520 COSM727995 |
576 | P>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2561522 rs781099091 |
578 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA82500243 rs1005766284 |
579 | D>G | No |
ClinGen TOPMed |
|
|
rs1270914505 CA354354538 |
582 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 583 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354354546 rs1360915795 |
583 | Q>R | No |
ClinGen gnomAD |
|
|
rs746414321 CA2561523 |
585 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs775940469 CA2561525 |
593 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA82500244 rs796125981 |
594 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA354354614 rs796125981 |
594 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs749601382 CA2561526 |
594 | T>S | No |
ClinGen ExAC |
|
|
rs372774285 CA2561528 |
597 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1391441001 CA354354643 |
599 | S>G | No |
ClinGen gnomAD |
|
|
rs761536221 CA2561529 |
599 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452506764 CA354354653 |
600 | E>G | No |
ClinGen Ensembl |
|
|
rs867619189 CA82500245 |
600 | E>K | No |
ClinGen Ensembl |
|
|
rs767094991 CA354354657 |
601 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA2561531 rs772558221 |
601 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs767094991 CA2561530 |
601 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs373758045 CA2561532 |
602 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs563479084 CA2561533 |
605 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 606 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 607 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754824028 CA2561535 |
608 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA354354705 rs1442432590 |
608 | P>L | No |
ClinGen TOPMed |
|
|
rs760168906 CA2561549 |
611 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354354724 rs1331088664 |
611 | N>S | No |
ClinGen gnomAD |
|
|
CA2561551 rs770458995 |
612 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA354354747 rs1481296948 |
613 | K>T | No |
ClinGen TOPMed |
|
|
rs762314857 CA2561550 |
614 | T>* | No |
ClinGen ExAC |
|
|
rs776597486 CA354354753 |
614 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs776597486 CA2561552 |
614 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs759435411 CA2561553 |
615 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354354757 rs752435475 |
615 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2561555 rs752435475 |
615 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759435411 COSM3720428 CA2561554 |
615 | R>W | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2561557 rs767571714 |
616 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs762104853 CA82500388 |
616 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2561556 rs762104853 |
616 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1246397265 CA354354767 |
617 | V>G | No |
ClinGen TOPMed |
|
|
CA354354769 rs1181679505 |
618 | R>* | No |
ClinGen gnomAD |
|
|
CA2561558 rs267599562 |
618 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA354354778 rs1577321837 |
619 | M>I | No |
ClinGen Ensembl |
|
|
CA354354773 rs1426100346 |
619 | M>V | No |
ClinGen gnomAD |
|
|
rs780163557 CA2561560 |
620 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs756208490 CA2561559 |
620 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA354354835 rs1428645252 |
628 | V>F | No |
ClinGen gnomAD |
|
|
rs1355979836 CA354354852 |
630 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA2561561 rs557287430 |
630 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 636 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA82500390 rs1043956924 |
643 | T>S | No |
ClinGen TOPMed |
|
|
CA354354944 rs1226361632 |
644 | S>G | No |
ClinGen gnomAD |
|
|
rs772479933 CA2561565 |
644 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA2561566 rs200748097 |
648 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1002407844 CA82500391 |
650 | A>V | No |
ClinGen Ensembl |
|
|
rs1384869039 CA354354990 |
651 | Y>C | No |
ClinGen gnomAD |
|
|
CA354355000 rs1209797127 |
653 | I>L | No |
ClinGen gnomAD |
|
|
rs927792294 CA82502478 |
654 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 655 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1347659695 CA354355072 |
661 | G>E | No |
ClinGen gnomAD |
|
|
rs1347659695 CA354355074 |
661 | G>V | No |
ClinGen gnomAD |
|
|
rs561811401 CA2561597 |
662 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 664 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354355095 rs1211128270 |
665 | V>E | No |
ClinGen gnomAD |
|
|
CA82502479 rs1052275495 |
665 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA354355142 rs1447064937 |
671 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA82502480 rs917476830 |
672 | V>A | No |
ClinGen Ensembl |
|
|
rs769292406 CA2561599 |
672 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354355181 rs1189816631 |
677 | G>A | No |
ClinGen TOPMed |
|
|
CA2561601 rs749229290 |
678 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA354355192 rs1160215708 |
679 | I>T | No |
ClinGen gnomAD |
|
|
CA354355188 rs1471537400 |
679 | I>V | No |
ClinGen gnomAD |
|
|
CA354355195 rs1385668957 |
680 | D>N | No |
ClinGen gnomAD |
|
|
CA2561603 COSM1729349 rs774156602 |
682 | Y>C | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs760831940 CA2561604 |
683 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA82502482 rs899822071 |
683 | R>K | No |
ClinGen TOPMed |
|
|
CA354355218 rs1367626652 |
683 | R>S | No |
ClinGen gnomAD |
|
|
CA354355236 rs1480257449 |
686 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs188146761 CA354355239 |
686 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1208789304 CA354355235 |
686 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 686 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2561607 rs759747629 |
688 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs372846880 CA2561608 |
689 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2561610 rs758895320 |
690 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs764386033 CA2561611 COSM1738859 |
690 | R>Q | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 692 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199533470 CA2561614 |
693 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2561613 rs756903586 |
693 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs561846083 CA2561616 |
696 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2561617 rs779511143 |
697 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2561618 rs749215602 |
697 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 697 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2561619 rs201882281 |
698 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA354355308 rs1425476413 |
698 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 698 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2561620 rs774030165 |
698 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774030165 CA354355306 |
698 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374418272 CA2561621 |
699 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354355323 rs1577356818 |
700 | Q>H | No |
ClinGen Ensembl |
|
|
rs1369019158 CA354355321 |
700 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 702 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200148894 CA82502483 |
702 | I>V | No |
ClinGen 1000Genomes |
|
|
rs1166807752 CA354355339 |
703 | A>T | No |
ClinGen TOPMed |
|
|
CA2561636 rs754876025 |
704 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA354355345 rs1223814574 |
704 | D>N | No |
ClinGen gnomAD |
|
|
rs778966385 CA2561638 |
706 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2561639 rs748075569 |
708 | M>I | No |
ClinGen ExAC gnomAD |
|
|
COSM202745 rs77475405 CA2561640 |
709 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2561641 rs201266367 |
709 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 712 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746112529 CA2561642 |
714 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs189688053 CA82502686 |
716 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
CA2561643 rs770081102 |
719 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs564201194 CA2561646 |
721 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2561645 rs763157465 |
721 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2561648 rs762281223 |
722 | I>V | No |
ClinGen ExAC |
|
|
rs767903827 CA2561649 |
723 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA2561650 rs750739021 |
723 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760334663 CA2561651 |
724 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA354355500 rs1295844761 |
726 | Y>C | No |
ClinGen gnomAD |
|
|
CA2561653 rs753429741 |
727 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs764825325 CA2561676 |
730 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2561677 rs752192741 |
732 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1237394192 CA354355554 |
732 | L>P | No |
ClinGen TOPMed |
|
|
CA82507018 rs991260920 |
733 | N>S | No |
ClinGen Ensembl |
|
|
CA2561678 rs767116196 |
734 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs764191066 CA354355576 |
735 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751526198 CA2561680 |
736 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 736 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354355590 rs1408966201 |
738 | P>A | No |
ClinGen gnomAD |
|
|
CA2561682 rs780821377 |
738 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2561684 rs755109991 |
741 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs755109991 CA354355607 |
741 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 741 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA82507020 rs564881247 |
742 | E>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs201754057 CA2561685 |
743 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748160165 CA2561686 |
743 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748160165 CA354355622 |
743 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431197024 CA354355628 |
744 | C>F | No |
ClinGen TOPMed |
|
|
CA354355643 rs1341783362 |
746 | S>F | No |
ClinGen gnomAD |
|
|
CA354355639 rs868734602 |
746 | S>P | No |
ClinGen gnomAD |
|
|
CA82507021 rs868734602 |
746 | S>T | No |
ClinGen gnomAD |
|
|
rs773767613 CA2561688 |
747 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771355987 CA2561690 |
748 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2561691 rs776810736 |
748 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA82507022 rs776810736 |
748 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385416062 CA354355657 |
749 | S>L | No |
ClinGen gnomAD |
|
|
rs766142184 CA2561720 |
750 | D>E | No |
ClinGen ExAC |
|
|
rs758565607 CA354091205 |
752 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758565607 CA2561722 |
752 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2561721 rs752946291 |
752 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444995645 CA354091214 |
753 | N>S | No |
ClinGen gnomAD |
|
|
CA354091225 rs1576321184 |
754 | G>A | No |
ClinGen Ensembl |
|
|
CA2561723 rs777844141 |
754 | G>R | No |
ClinGen ExAC |
|
|
CA354091233 rs1280872727 |
755 | H>R | No |
ClinGen TOPMed |
|
|
rs757350642 CA2561725 |
755 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA354091259 rs1576321218 |
758 | S>G | No |
ClinGen Ensembl |
|
|
CA2561726 rs781603243 |
760 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354091320 rs770320096 |
763 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780528745 CA2561729 |
764 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA354091326 rs1210170957 |
764 | C>Y | No |
ClinGen gnomAD |
|
|
CA2561730 rs748974536 COSM1318741 |
769 | R>C | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2561731 rs768370228 |
769 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA354091382 rs768370228 |
769 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA354091420 rs1233457472 |
773 | A>S | No |
ClinGen gnomAD |
|
|
CA2561733 COSM1036891 rs746783421 |
774 | D>N | Variant assessed as Somatic; 0.0 impact. autonomic_ganglia endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1425570359 CA354091436 |
775 | V>I | No |
ClinGen gnomAD |
|
|
rs773074975 CA2561735 |
776 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1034829703 CA81831747 |
778 | V>A | No |
ClinGen gnomAD |
|
|
CA81831753 rs866206814 COSM263904 |
780 | R>C | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA354091505 rs1466031655 |
782 | G>S | No |
ClinGen TOPMed |
|
|
CA81831762 rs866714857 |
784 | G>E | No |
ClinGen Ensembl |
|
|
CA2561736 rs760576138 |
785 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA81831769 rs768537117 |
786 | P>S | No |
ClinGen Ensembl |
|
|
rs753570694 CA2561738 |
787 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1478208130 COSM479273 CA354091576 |
789 | R>* | kidney large_intestine Variant assessed as Somatic; impact. endometrium breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs368965958 CA81831789 |
789 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368965958 CA354091580 |
789 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368965958 CA2561739 COSM1636880 |
789 | R>Q | Variant assessed as Somatic; 0.0 impact. bone [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs764362263 CA2561740 |
790 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 790 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751789410 CA2561741 |
791 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs751789410 CA2561742 |
791 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1426447263 CA354091600 |
792 | Q>H | No |
ClinGen TOPMed |
|
|
rs372644712 CA2561745 |
795 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750928149 CA2561744 |
795 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 796 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780583522 CA2561746 |
796 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs749601489 CA2561747 |
797 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1245049973 CA354091624 |
797 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1245049973 CA354091626 |
797 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1192731441 CA354091644 |
799 | I>T | No |
ClinGen gnomAD |
|
|
rs755390401 CA2561749 |
801 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354091667 rs1318024803 |
803 | V>L | No |
ClinGen TOPMed |
|
|
CA354091681 rs1405942574 |
805 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs778489487 CA2561750 |
806 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs746588313 CA2561779 |
809 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA354091843 rs1268529223 |
809 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2561780 rs770410696 |
810 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2561781 rs770410696 |
810 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs745771301 CA2561782 |
811 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1670485 rs866064328 CA81832962 |
812 | S>F | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 812 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2561783 rs769505737 |
813 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA354091886 rs1560040626 |
813 | Y>N | No |
ClinGen Ensembl |
|
|
COSM138388 rs775308756 CA2561784 |
815 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs200186528 CA2561785 COSM3702288 |
815 | R>H | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2561786 RCV000784987 rs200186528 |
815 | R>P | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2561787 rs773567828 |
817 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354091940 rs1440464244 |
817 | R>K | No |
ClinGen TOPMed |
|
|
CA2561788 rs754757263 |
821 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354092014 rs1196195338 |
823 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 824 | I>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766545647 CA2561789 |
824 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2561793 rs753037766 |
831 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA2561792 rs558394726 |
831 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777540488 CA2561795 |
834 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA354092176 rs1272403752 |
836 | Y>D | No |
ClinGen TOPMed |
|
|
CA354092175 rs1272403752 |
836 | Y>H | No |
ClinGen TOPMed |
|
|
CA81833004 rs781077576 |
838 | M>V | No |
ClinGen Ensembl |
|
|
CA354092218 rs1291286753 |
839 | D>Y | No |
ClinGen gnomAD |
|
|
CA354092234 TCGA novel rs1576325301 |
840 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs1225135771 CA354092267 |
842 | A>V | No |
ClinGen gnomAD |
|
|
CA2561800 rs745826307 |
843 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2561799 rs745826307 |
843 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2561797 rs371034291 |
843 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779721572 CA2561801 |
844 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA354092293 rs1329916549 |
845 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1429526927 CA354092333 |
847 | S>F | No |
ClinGen TOPMed |
|
|
CA354092352 rs1560040800 |
848 | T>I | No |
ClinGen Ensembl |
|
|
CA2561804 rs768326616 |
849 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs773618579 CA2561805 |
850 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 852 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354092412 rs1461350100 |
852 | C>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 853 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354092434 rs1296345286 |
854 | F>L | No |
ClinGen gnomAD |
|
|
CA2561806 rs17740066 VAR_050077 |
855 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 856 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1180306111 CA354092482 |
856 | G>V | No |
ClinGen TOPMed |
|
|
rs1314501928 CA354092496 |
857 | T>N | No |
ClinGen gnomAD |
|
|
CA354092493 rs1409670098 |
857 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA81833047 rs987117389 |
858 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA354092565 rs1224700089 |
859 | L>Q | No |
ClinGen TOPMed |
|
|
rs1307280207 CA354092648 |
863 | L>S | No |
ClinGen gnomAD |
|
|
CA81833057 rs776805079 |
864 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA81833061 rs202096195 |
864 | I>N | No |
ClinGen 1000Genomes |
|
|
CA2561808 rs776805079 |
864 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1321770361 CA354092697 |
865 | I>S | No |
ClinGen TOPMed |
|
| TCGA novel | 866 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA81833069 rs992415008 |
866 | S>T | No |
ClinGen Ensembl |
|
|
rs1458629696 CA354092807 |
870 | P>S | No |
ClinGen gnomAD |
|
|
CA2561811 CA2561812 rs535446894 |
871 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2561813 rs764407099 |
872 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756852234 CA2561815 |
873 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs770940165 CA81833089 |
873 | D>V | No |
ClinGen Ensembl |
|
|
CA354092899 rs1168084334 |
874 | E>K | No |
ClinGen gnomAD |
|
|
CA2561816 rs780695803 |
876 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs374960778 CA2561817 |
878 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 879 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755578498 CA2561819 |
880 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2561818 rs755578498 |
880 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2561822 rs778811755 |
881 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA354093139 CA2561823 rs747259649 |
882 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs940416544 CA81833101 |
882 | M>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 882 | M>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771209422 CA2561824 |
883 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs771209422 CA2561825 |
883 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs971774706 CA81833108 |
884 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 885 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354093258 rs1298189644 |
886 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA354093277 rs1441539807 |
887 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2561847 rs749813823 |
888 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2561849 rs774837323 |
890 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1576367535 CA354085300 |
890 | L>R | No |
ClinGen Ensembl |
|
|
CA81822317 rs774837323 |
890 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 896 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 898 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1176421439 CA354085395 |
898 | T>P | No |
ClinGen TOPMed |
|
|
rs1160649801 CA354085412 |
899 | F>L | No |
ClinGen gnomAD |
|
|
CA81822340 rs867755427 |
900 | S>F | No |
ClinGen Ensembl |
|
|
rs772962954 CA2561852 |
901 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1479746491 CA354085473 |
902 | M>T | No |
ClinGen TOPMed |
|
|
CA354085466 rs1301711716 |
902 | M>V | No |
ClinGen gnomAD |
|
|
CA2561854 rs566220337 |
904 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA354085528 rs1194510141 |
905 | M>T | No |
ClinGen TOPMed |
|
|
rs375516751 CA2561855 |
906 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA81822361 rs980739131 |
907 | G>R | No |
ClinGen TOPMed |
|
|
CA354085579 rs1279550209 |
908 | L>F | No |
ClinGen gnomAD |
|
|
rs1259966985 CA354085602 |
909 | M>I | No |
ClinGen TOPMed |
|
|
rs1198254063 CA354085596 |
909 | M>R | No |
ClinGen gnomAD |
|
|
CA354085623 rs1576367653 |
910 | Q>H | No |
ClinGen Ensembl |
|
|
rs910903172 CA354085636 |
911 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs910903172 CA81822373 |
911 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2561856 rs373920733 |
911 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 912 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA81822381 rs939405441 |
913 | Y>N | No |
ClinGen Ensembl |
|
|
rs535120629 CA81822391 |
914 | E>K | No |
ClinGen 1000Genomes |
|
|
CA354085686 rs1221412176 |
915 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2561860 rs777391481 |
918 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2561861 rs746123825 |
919 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA2561862 rs756231137 |
921 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1468644171 CA354085736 |
922 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1381107029 CA354085748 |
922 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs368790614 CA2561863 |
922 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2561864 rs749438410 |
923 | D>G | No |
ClinGen ExAC |
|
|
CA81822450 rs770547974 |
923 | D>H | No |
ClinGen Ensembl |
|
|
rs770547974 CA81822447 |
923 | D>N | No |
ClinGen Ensembl |
|
|
CA354085811 rs1293068965 |
926 | E>A | No |
ClinGen TOPMed |
|
|
CA2561866 rs774888648 |
927 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA354085854 rs1398152317 |
928 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 928 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 929 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2561867 rs372159525 |
929 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM727991 rs772460530 CA2561868 |
930 | R>G | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs558213185 CA2561869 |
931 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1417956072 CA354085911 |
932 | K>Q | No |
ClinGen gnomAD |
|
|
CA2561871 rs765883670 |
934 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354085948 rs765883670 |
934 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760392408 CA81822538 CA2561870 |
934 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs780288093 CA81822553 |
935 | M>I | No |
ClinGen Ensembl |
|
|
rs776330795 CA2561872 |
936 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244768939 CA354086014 |
938 | S>Y | No |
ClinGen gnomAD |
|
|
CA2561873 rs61996327 |
939 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA81822563 rs940518292 |
940 | A>V | No |
ClinGen Ensembl |
|
|
CA354086061 rs1210259139 |
941 | S>F | No |
ClinGen gnomAD |
|
|
rs764805897 CA2561875 |
943 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA81822572 rs368838145 |
943 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
CA354086111 rs1424625708 |
944 | I>T | No |
ClinGen TOPMed |
|
|
CA2561876 rs372922793 |
945 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs762934388 CA2561877 |
948 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs376002630 CA2561878 |
949 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1198369755 CA354086177 |
949 | Y>H | No |
ClinGen Ensembl |
|
|
rs1181975396 CA354086199 |
950 | T>K | No |
ClinGen gnomAD |
|
|
CA354086212 rs1473320275 |
951 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 953 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA81822599 rs1036633690 |
954 | S>* | No |
ClinGen Ensembl |
|
| TCGA novel | 956 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1403267027 CA354086310 |
960 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1467649705 CA354086317 |
961 | F>V | No |
ClinGen gnomAD |
|
|
CA81822616 rs747744863 |
962 | S>L | No |
ClinGen Ensembl |
|
|
rs757072260 CA2561880 |
965 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 966 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs537017427 CA2561883 |
970 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 971 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs574211016 CA2561885 |
974 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2561886 rs777156345 |
975 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs778206249 CA2561887 |
975 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 978 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA81822659 rs994795433 |
978 | S>T | No |
ClinGen Ensembl |
|
|
CA2561889 rs771302708 |
978 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs369272319 CA2561890 |
980 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354086442 rs373768752 |
980 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA354086458 rs762986990 |
983 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762986990 CA2561894 |
983 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2561893 rs775082075 |
983 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1171968401 CA354086461 |
984 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 985 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2561895 rs764003250 |
988 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs751502963 CA2561896 |
989 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2561897 rs190278242 |
992 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2561898 COSM1418115 rs767313617 |
992 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2561899 rs754091711 |
995 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs754091711 CA2561900 |
995 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2561902 rs752711039 |
996 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs183425607 CA2561904 |
999 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771227041 CA2561907 |
1000 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1018422250 CA81822779 |
1000 | N>T | No |
ClinGen TOPMed |
|
|
CA354086574 rs1257841186 |
1001 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1239931162 CA354086593 |
1003 | I>M | No |
ClinGen TOPMed |
|
|
rs377434066 CA354086591 |
1003 | I>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs377434066 CA81822798 |
1003 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA81822802 rs963785852 |
1005 | I>L | No |
ClinGen TOPMed |
|
|
rs745529516 CA2561908 |
1005 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1006 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1247746178 CA354086611 |
1006 | M>R | No |
ClinGen TOPMed |
|
|
CA81822819 rs976815577 |
1006 | M>V | No |
ClinGen TOPMed |
|
|
CA354086619 rs571833696 |
1007 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775603485 CA81826132 |
1007 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA2561909 rs571833696 |
1007 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA81826139 rs984819 |
1009 | P>L | No |
ClinGen Ensembl |
|
|
CA2561939 rs763182101 |
1010 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1036897 rs1197390578 CA354087235 |
1012 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs368291652 CA2561940 |
1012 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1198300799 CA354087249 |
1014 | M>I | No |
ClinGen TOPMed |
|
|
CA2561941 rs192144338 |
1014 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1421779880 CA354087267 |
1017 | V>I | No |
ClinGen gnomAD |
|
|
rs750942555 CA2561944 |
1020 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2561945 rs756589561 |
1021 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs866792906 CA81826183 |
1021 | P>S | No |
ClinGen Ensembl |
|
|
rs780526553 CA2561946 |
1022 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs748916907 CA2561947 |
1023 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1336297323 CA354087309 |
1024 | D>H | No |
ClinGen gnomAD |
|
|
rs754605013 CA2561948 |
1025 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA354087319 rs1377276697 |
1025 | M>T | No |
ClinGen gnomAD |
|
|
CA81826197 rs764631605 |
1025 | M>V | No |
ClinGen Ensembl |
|
|
COSM345396 CA2561949 rs778295479 |
1026 | R>K | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2561950 rs747762936 |
1027 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354087332 rs747762936 |
1027 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771561295 CA2561951 |
1028 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1029 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372264577 COSM1036898 CA2561952 |
1029 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA81826238 rs746907099 |
1033 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2561953 rs746907099 |
1033 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2561955 rs200892436 |
1035 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763089721 CA2561956 |
1036 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1380558117 CA354087402 |
1038 | Q>R | No |
ClinGen gnomAD |
|
|
rs768989967 CA2561957 |
1039 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA354087419 rs1411775935 |
1041 | Y>H | No |
ClinGen TOPMed |
|
|
rs774420760 CA2561958 |
1042 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767675000 CA2561960 RCV000256447 VAR_081642 |
1043 | V>I | found in a family with autosomal recessive infantile-onset neurodegenerative disease; unknown pathological significance; loss of axonal outgrowth [UniProt] | No |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA354087449 rs1464217070 |
1046 | T>A | No |
ClinGen TOPMed |
|
|
COSM1580044 CA2561962 rs761215215 |
1050 | R>Q | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2561961 rs202129881 |
1050 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1450486725 CA354087488 |
1052 | T>A | No |
ClinGen gnomAD |
|
|
CA81826288 rs908946798 |
1054 | S>I | No |
ClinGen TOPMed |
|
|
CA354087533 rs1398586140 |
1058 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs13094925 CA2561983 |
1064 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2561982 CA354087848 rs761272513 |
1064 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1301195954 CA354087854 |
1064 | M>T | No |
ClinGen TOPMed |
|
|
CA354087886 rs1443368949 |
1067 | D>H | No |
ClinGen gnomAD |
|
|
CA354087935 rs1157927558 |
1070 | T>I | No |
ClinGen TOPMed |
|
|
rs1398522852 CA354087940 |
1071 | P>S | No |
ClinGen TOPMed |
|
|
rs754289364 CA2561984 |
1072 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1278832219 CA354087950 |
1072 | I>V | No |
ClinGen gnomAD |
|
|
rs1576380200 CA354087983 |
1074 | T>I | No |
ClinGen Ensembl |
|
|
rs1287915424 CA354087992 |
1075 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1287915424 CA354087994 |
1075 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA354088082 rs1198078974 |
1081 | G>D | No |
ClinGen gnomAD |
|
|
rs765476354 CA2561986 |
1081 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1244954411 COSM277523 CA354088108 |
1083 | L>F | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1191875096 CA354088129 |
1084 | K>T | No |
ClinGen gnomAD |
|
|
CA354088174 rs1160736533 |
1088 | G>S | No |
ClinGen gnomAD |
|
|
CA2561991 rs756746175 |
1091 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1095 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA81827695 rs1031699198 |
1097 | E>Q | No |
ClinGen TOPMed |
|
|
rs1322119107 CA354088318 |
1098 | E>V | No |
ClinGen gnomAD |
|
|
rs1352142863 CA354088329 |
1099 | L>P | No |
ClinGen gnomAD |
|
|
CA2562006 rs763296074 |
1102 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs763793317 CA2562007 |
1104 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2562011 rs750398063 |
1105 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs766896877 CA2562010 |
1105 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA2562013 rs780000643 |
1107 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2562014 rs749165885 |
1109 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA2562015 rs754810926 |
1110 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs573081224 CA2562016 |
1110 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771061851 CA354088920 |
1111 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781258618 CA2562019 |
1112 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2562021 rs746387352 |
1113 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225661370 CA354088945 |
1113 | A>S | No |
ClinGen TOPMed |
|
|
rs746387352 CA2562020 |
1113 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1114 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354088967 rs1228077701 |
1114 | Q>R | No |
ClinGen TOPMed |
|
|
rs1451898721 CA354088988 |
1115 | H>R | No |
ClinGen gnomAD |
|
|
CA81829031 rs201145127 |
1118 | G>A | No |
ClinGen ESP TOPMed |
|
|
rs1306413969 CA354089053 |
1119 | P>Q | No |
ClinGen TOPMed |
|
|
rs182836802 CA2562026 |
1119 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1350678711 COSM581119 CA354089062 |
1120 | G>R | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA354089073 rs1316022637 |
1121 | S>G | No |
ClinGen gnomAD |
|
|
CA354089106 rs1422979976 |
1122 | I>M | No |
ClinGen TOPMed |
|
|
CA354089103 rs1278617373 |
1122 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA354089118 rs1220476526 |
1123 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1126 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2562028 rs749836784 |
1127 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369867619 CA2562030 |
1128 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1560073251 CA354089216 |
1130 | G>R | No |
ClinGen Ensembl |
|
|
rs753808490 CA2562031 |
1131 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1576384451 CA354089256 |
1132 | V>G | No |
ClinGen Ensembl |
|
|
CA354089244 rs1193428248 |
1132 | V>M | No |
ClinGen gnomAD |
|
|
CA354089270 rs1261608738 |
1133 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA354089323 rs1479094668 |
1137 | T>P | No |
ClinGen gnomAD |
|
|
CA2562032 rs754863853 |
1138 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1240338 rs778813739 CA2562033 |
1138 | R>H | Variant assessed as Somatic; 0.0 impact. oesophagus urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs373203919 CA2562034 |
1139 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs757351395 CA2562035 |
1139 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201616269 CA2562037 |
1140 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2562036 rs781469361 |
1140 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA81829067 rs930924244 |
1141 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2562038 rs139176240 |
1144 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769030411 CA2562041 |
1145 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1388557671 CA354089434 |
1145 | E>D | No |
ClinGen TOPMed |
|
|
rs749755044 CA2562040 |
1145 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354089443 rs1276784978 |
1147 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1348913686 CA354089448 |
1147 | G>V | No |
ClinGen gnomAD |
|
|
rs1284302554 CA354089462 |
1149 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1151 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2562042 rs774641259 |
1151 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354089479 rs1267325637 |
1152 | E>D | No |
ClinGen gnomAD |
|
|
CA2562043 rs761531204 |
1152 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1056996271 CA81829111 |
1153 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA354089486 rs1196169894 |
1154 | E>Q | No |
ClinGen gnomAD |
|
|
rs1396439855 CA354089513 |
1157 | T>I | No |
ClinGen gnomAD |
|
|
rs373868594 CA2562044 CA354089534 |
1160 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354089541 rs1157737316 |
1161 | M>I | No |
ClinGen gnomAD |
|
|
CA2562046 rs760154570 COSM479274 |
1166 | A>V | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1289356788 CA354089610 |
1171 | A>E | No |
ClinGen gnomAD |
|
|
CA354089620 rs1389953817 |
1172 | H>Q | No |
ClinGen gnomAD |
|
|
rs1425665362 CA354089618 |
1172 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1177 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1185 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1187 | F>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q9Y2K9
No regional properties for Q9Y2K9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9Y2K9 | |||
Functions
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
3 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. |
4 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. |
| 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. |
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 |
| Q5T5C0 | STXBP5 | Syntaxin-binding protein 5 | Homo sapiens (Human) | PR |
| Q80Y17 | Llgl1 | Lethal(2) giant larvae protein homolog 1 | Mus musculus (Mouse) | PR |
| Q8K400 | Stxbp5 | Syntaxin-binding protein 5 | Mus musculus (Mouse) | PR |
| Q5DQR4 | Stxbp5l | Syntaxin-binding protein 5-like | 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 |
| Q7SZE3 | llgl2 | LLGL scribble cell polarity complex component 2 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q5SQE2 | stxbp5l | Syntaxin-binding protein 5-like | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKKFNFRKVL | DGLTASSPGS | GSSSGSNSGG | GAGSGSVHPA | GTAGVLREEI | QETLTSEYFQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ICKTVRHGFP | HQPTALAFDP | VQKILAIGTR | TGAIRILGRP | GVDCYCQHES | GAAVLQLQFL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| INEGALVSAS | SDDTLHLWNL | RQKRPAILHS | LKFNRERITY | CHLPFQSKWL | YVGTERGNTH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IVNIESFILS | GYVIMWNKAI | ELSTKTHPGP | VVHLSDSPRD | EGKLLIGYEN | GTVVFWDLKS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KRAELRVYYD | EAIHSIDWHH | EGKQFMCSHS | DGSLTLWNLK | SPSRPFQTTI | PHGKSQREGR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KSESCKPILK | VEYKTCKNSE | PFIIFSGGLS | YDKACRRPSL | TIMHGKAITV | LEMDHPIVEF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LTLCETPYPN | EFQEPYAVVV | LLEKDLIVVD | LTQSNFPIFE | NPYPMDIHES | PVTCTAYFAD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CPPDLILVLY | SIGVKHKKQG | YSNKEWPISG | GAWNLGAQTY | PEIIITGHAD | GSIKFWDASA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ITLQMLYKLK | TSKVFEKQKV | GEGKQTCEIV | EEDPFAIQMI | YWCPESRIFC | VSGVSAYVII |
| 550 | 560 | 570 | 580 | 590 | 600 |
| YKFSRHEITT | EIVSLEVRLQ | YDVEDIITPE | PETSPPFPDL | SAQLPSSRSL | SGSTNTVASE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GVTKDSIPCL | NVKTRPVRMP | PGYQAELVIQ | LVWVDGEPPQ | QITSLAVSSA | YGIVAFGNCN |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GLAVVDFIQK | TVLLSMGTID | LYRSSDLYQR | QPRSPRKNKQ | FIADNFCMRG | LSNFYPDLTK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| RIRTSYQSLT | ELNDSPVPLE | LERCKSPTSD | HVNGHCTSPT | SQSCSSGKRL | SSADVSKVNR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| WGPGRPPFRK | AQSAACMEIS | LPVTTEENRE | NSYNRSRSSS | ISSIDKDSKE | AITALYFMDS |
| 850 | 860 | 870 | 880 | 890 | 900 |
| FARKNDSTIS | PCLFVGTSLG | MVLIISLNLP | LADEQRFTEP | VMVLPSGTFL | SLKGAVLTFS |
| 910 | 920 | 930 | 940 | 950 | 960 |
| CMDRMGGLMQ | PPYEVWRDPN | NIDENEKSWR | RKVVMNSSSA | SQEIGDHQYT | IICSEKQAKV |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| FSLPSQTCLY | VHNITETSFI | LQANVVVMCS | SACLACFCAN | GHIMIMSLPS | LRPMLDVNYL |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| PLTDMRIART | FCFTNEGQAL | YLVSPTEIQR | LTYSQEMCDN | LQDMLGDLFT | PIETPEAQNR |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| GFLKGLFGGS | GQTFDREELF | GEASAGKASR | SLAQHIPGPG | SIEGMKGAAG | GVMGELTRAR |
| 1150 | 1160 | 1170 | 1180 | ||
| IALDERGQRL | GELEEKTAGM | MTSAEAFSKH | AHELMLKYKD | KKWYQF |