Q9UIQ6
PR
Gene name |
LNPEP (OTASE) |
Protein name |
Leucyl-cystinyl aminopeptidase |
Names |
Cystinyl aminopeptidase, Insulin-regulated membrane aminopeptidase, Insulin-responsive aminopeptidase, IRAP, Oxytocinase, OTase, Placental leucine aminopeptidase, P-LAP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4012 |
EC number |
3.4.11.3: Aminopeptidases |
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
10 structures for Q9UIQ6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4P8Q | X-ray | 302 A | A/B | 155-1025 | PDB |
| 4PJ6 | X-ray | 296 A | A/B | 155-1025 | PDB |
| 4Z7I | X-ray | 331 A | A/B | 155-1025 | PDB |
| 5C97 | X-ray | 337 A | A/B | 155-1025 | PDB |
| 5JHQ | X-ray | 320 A | E/F/G/H/I/J/K/L | 92-107 | PDB |
| 5MJ6 | X-ray | 253 A | A/B | 155-1025 | PDB |
| 7ZYF | X-ray | 281 A | A/B | 155-1025 | PDB |
| 8CGP | X-ray | 262 A | A/B | 155-1025 | PDB |
| 8CGW | X-ray | 303 A | A/B | 155-1025 | PDB |
| AF-Q9UIQ6-F1 | Predicted | AlphaFoldDB |
708 variants for Q9UIQ6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA360502905 rs1258633218 |
3 | P>L | No |
ClinGen TOPMed |
|
|
CA360502901 rs1421497599 |
3 | P>S | No |
ClinGen gnomAD |
|
|
CA360502921 rs1177367373 |
6 | N>D | No |
ClinGen gnomAD |
|
|
rs1358768537 CA360502928 |
7 | D>N | No |
ClinGen gnomAD |
|
|
CA360492476 rs779310728 |
8 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779310728 CA3353668 |
8 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3353667 rs545182563 |
8 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs758975880 CA360492498 |
10 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs758975880 CA3353670 |
10 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA360492525 rs1348362580 |
12 | P>T | No |
ClinGen gnomAD |
|
|
CA360492553 rs1287566780 |
14 | N>S | No |
ClinGen TOPMed |
|
|
rs774189287 CA122974147 |
15 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1179120068 CA360492566 |
15 | M>T | No |
ClinGen gnomAD |
|
|
CA360492585 rs1347017430 |
16 | I>T | No |
ClinGen TOPMed |
|
|
CA360492601 rs1281032650 |
17 | E>G | No |
ClinGen TOPMed |
|
|
rs1157211463 CA561747104 |
18 | N>* | No |
ClinGen gnomAD |
|
|
rs1439517355 CA360492618 |
18 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3353671 rs778092897 |
20 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3353672 rs746533429 |
23 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 24 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA122974159 rs1026561740 |
27 | V>A | No |
ClinGen TOPMed |
|
|
CA3353673 rs770359583 |
31 | A>V | No |
ClinGen ExAC |
|
|
rs143082960 CA3353674 |
32 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1383012220 CA360492753 |
34 | P>R | No |
ClinGen TOPMed |
|
|
rs375647311 CA3353676 |
37 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360492774 rs375647311 |
37 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373784631 CA122974189 |
38 | P>A | No |
ClinGen ESP TOPMed |
|
|
rs138619934 CA360492779 |
38 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138619934 CA3353677 |
38 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3353678 rs111742224 |
40 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1289273389 CA360492798 |
41 | P>R | No |
ClinGen gnomAD |
|
|
CA3353679 rs764117886 |
43 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA3353680 rs764117886 |
43 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3353681 rs760844738 |
44 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs923875456 CA122974228 |
45 | E>V | No |
ClinGen Ensembl |
|
|
CA360492830 rs1457477473 |
46 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1245285194 CA360492845 |
48 | P>L | No |
ClinGen gnomAD |
|
|
CA360492847 TCGA novel rs575182273 |
49 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD NCI-TCGA |
|
rs112696493 CA360492849 |
49 | R>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs112696493 CA122974243 |
49 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA3353683 rs575182273 |
49 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360492863 rs765332629 |
50 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3353685 rs765332629 |
50 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360492857 rs1264947361 |
50 | G>R | No |
ClinGen TOPMed |
|
|
CA360492861 rs765332629 |
50 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3353686 rs753127781 |
52 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs758631713 CA3353687 |
53 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778347061 CA3353688 |
55 | V>M | No |
ClinGen ExAC |
|
|
rs752055158 CA3353691 |
56 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA3353692 rs780660685 |
56 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752055158 CA3353690 |
56 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA360492962 rs1283569517 |
59 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs141632351 CA122974313 |
60 | E>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs769521621 CA3353694 |
61 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA3353698 rs371113040 |
63 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3353696 rs145484398 |
63 | M>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs779527107 CA3353695 |
63 | M>V | No |
ClinGen ExAC |
|
|
CA360493101 rs535080774 |
65 | E>D | No |
ClinGen gnomAD |
|
|
rs1196925712 COSM1071493 CA360493164 |
68 | E>D | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA122974352 rs978407212 |
68 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 69 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3353699 rs368502111 |
69 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3353701 rs761816383 |
70 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774485506 CA3353700 |
70 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1581999606 CA360493223 |
71 | E>* | No |
ClinGen Ensembl |
|
|
CA360493294 rs1390203358 |
73 | S>L | No |
ClinGen TOPMed |
|
|
CA3353702 rs528454001 |
78 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs528454001 CA3353703 |
78 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759640194 CA3353704 |
79 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1195217477 CA360493450 |
80 | S>P | No |
ClinGen gnomAD |
|
|
rs1425322249 CA360493582 |
84 | R>K | No |
ClinGen TOPMed |
|
|
CA360493609 rs1168046929 |
85 | S>R | No |
ClinGen gnomAD |
|
|
rs3797799 VAR_031616 CA3353706 |
86 | S>P | No |
ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD |
|
|
CA3353709 rs73775599 |
89 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149478807 CA3353708 |
89 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1278937227 CA360493695 |
92 | A>S | No |
ClinGen gnomAD |
|
|
rs1189482007 CA360493703 |
92 | A>V | No |
ClinGen TOPMed |
|
|
COSM483187 CA3353711 rs781635777 |
93 | T>A | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA122974471 rs760219188 |
94 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA360493721 rs760219188 |
94 | G>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 99 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3353713 rs139694317 |
100 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139694317 CA360493844 |
100 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139694317 CA360493837 |
100 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360493876 rs1200307124 |
102 | A>S | No |
ClinGen gnomAD |
|
|
CA360493879 rs1458974190 |
102 | A>V | No |
ClinGen TOPMed |
|
|
rs1308771223 CA360493913 |
104 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1308771223 CA360493914 |
104 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs748892307 CA3353715 |
105 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs778817575 CA360493939 |
106 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778817575 CA3353717 |
106 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360493954 rs1379015976 |
108 | A>E | No |
ClinGen gnomAD |
|
|
CA360493985 rs1478111408 |
111 | M>V | No |
ClinGen gnomAD |
|
|
CA3353719 rs772153884 |
113 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3353720 rs773225635 |
114 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA122974523 rs773225635 |
114 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769756238 CA3353722 |
118 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763065052 CA3353724 |
119 | V>M | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA360494096 rs1363150437 |
120 | V>A | No |
ClinGen TOPMed |
|
|
CA360494092 rs1361277317 |
120 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA360494111 rs1232791770 |
122 | V>I | No |
ClinGen gnomAD |
|
|
rs1232791770 CA360494112 |
122 | V>L | No |
ClinGen gnomAD |
|
|
rs764484600 CA3353725 |
124 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA122974565 rs149339901 |
125 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3353726 rs774729202 |
126 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA122974587 rs905733783 |
127 | V>G | No |
ClinGen Ensembl |
|
|
CA3353727 rs762117620 |
135 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA360494225 rs1487559877 |
135 | T>N | No |
ClinGen gnomAD |
|
|
CA3353728 rs768030357 |
136 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750865895 CA3353729 |
137 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3353730 rs755720378 |
137 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1441341154 CA360494243 |
138 | K>R | No |
ClinGen gnomAD |
|
|
rs765781586 CA3353731 |
139 | E>K | No |
ClinGen ExAC |
|
|
rs753565895 CA3353732 |
140 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753565895 CA3353733 |
140 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753565895 CA360494258 |
140 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360494264 rs1379622006 |
141 | C>F | No |
ClinGen gnomAD |
|
|
rs778656236 CA3353734 |
142 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1417785614 CA360494268 |
142 | H>Y | No |
ClinGen gnomAD |
|
| rs748712732 | 145 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3353737 rs758200052 |
145 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| rs748712732 | 145 | N>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747969232 CA3353736 |
145 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs990693598 CA122974690 |
147 | S>P | No |
ClinGen Ensembl |
|
|
rs1321863375 CA360494316 |
148 | I>F | No |
ClinGen gnomAD |
|
|
CA3353738 rs374078966 |
148 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368036839 CA3353741 |
151 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3353742 rs749348736 |
152 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA122974735 rs1008702185 |
155 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3353746 rs767866754 |
161 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs761053083 CA3353748 |
165 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA3353750 rs61752351 |
166 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360494570 rs1437803673 |
167 | R>G | No |
ClinGen gnomAD |
|
|
CA3353751 rs754449961 |
167 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA360494608 rs1178214747 |
170 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs752392944 CA3353753 |
172 | V>I | No |
ClinGen ExAC |
|
|
rs777688166 CA3353755 |
174 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1466330669 CA360494652 |
175 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3353757 rs757174904 |
176 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA3353758 rs753478903 |
176 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248607635 CA360494689 |
178 | E>K | No |
ClinGen TOPMed |
|
|
rs779400752 CA3353762 |
183 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360494762 rs779400752 |
183 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346314135 CA360494776 |
184 | N>I | No |
ClinGen TOPMed |
|
|
CA122974887 rs773478218 |
187 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA122974889 rs773478218 |
187 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3353764 rs773478218 |
187 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3353767 rs777128687 |
189 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3353768 rs759183575 |
191 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1428237321 CA360494862 |
191 | R>S | No |
ClinGen TOPMed |
|
| TCGA novel | 192 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 193 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360494910 rs1339491374 |
195 | T>I | No |
ClinGen TOPMed |
|
|
rs34236898 CA3353769 |
197 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3353770 rs752445811 |
198 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA360495002 rs1401374972 |
201 | L>R | No |
ClinGen TOPMed |
|
|
rs1185593580 CA360495038 |
203 | V>A | No |
ClinGen gnomAD |
|
|
rs1561439174 CA360495030 |
203 | V>I | No |
ClinGen Ensembl |
|
|
rs762664161 CA3353771 |
204 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs947927690 CA122974916 |
205 | W>C | No |
ClinGen gnomAD |
|
|
rs1445612744 COSM272891 CA360495077 |
206 | N>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 207 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780999331 CA3353775 |
213 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA561747115 rs1336960543 |
215 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3353776 rs750373613 |
217 | S>L | No |
ClinGen ExAC |
|
|
rs1427036138 CA360495244 |
218 | R>G | No |
ClinGen TOPMed |
|
|
rs1402204875 CA360495257 |
218 | R>S | No |
ClinGen gnomAD |
|
|
rs755111403 CA3353777 |
219 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3353778 rs778944997 |
220 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA122974930 rs200097839 |
220 | T>N | No |
ClinGen 1000Genomes |
|
|
CA3353779 rs143676072 |
222 | M>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360495387 rs143676072 |
222 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1218667904 CA360495455 |
225 | V>F | No |
ClinGen gnomAD |
|
|
rs898268391 CA122974978 |
228 | Q>P | No |
ClinGen Ensembl |
|
| TCGA novel | 230 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 231 | Q>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3353780 rs772301430 |
233 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs747335221 CA3353782 |
236 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs994312116 CA360495778 |
237 | Y>C | No |
ClinGen TOPMed |
|
|
CA122975043 rs994312116 |
237 | Y>S | No |
ClinGen TOPMed |
|
|
CA360495809 rs1208606900 |
239 | Y>H | No |
ClinGen gnomAD |
|
|
CA3353785 rs760096595 |
244 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA360495940 rs1192974091 |
247 | A>V | No |
ClinGen gnomAD |
|
|
rs1271288176 CA360495954 |
248 | P>A | No |
ClinGen TOPMed |
|
|
CA3353788 rs748475471 |
249 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3353790 rs751157476 |
252 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3353791 rs761584522 |
253 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360496049 rs1361677601 |
254 | G>R | No |
ClinGen gnomAD |
|
|
rs767335794 CA3353792 |
255 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1353038732 CA360496068 |
255 | H>Y | No |
ClinGen TOPMed |
|
|
rs184257448 CA3353794 |
256 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779914524 CA3353795 |
256 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA3353797 rs758402247 |
257 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360496110 rs1199609876 |
258 | T>A | No |
ClinGen Ensembl |
|
|
rs1488540428 CA360496113 |
258 | T>K | No |
ClinGen gnomAD |
|
|
CA360496117 rs1488540428 |
258 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA122975199 rs201859769 |
262 | E>Q | No |
ClinGen 1000Genomes |
|
|
rs1489618027 CA360496180 |
263 | Y>C | No |
ClinGen gnomAD |
|
|
rs371940179 CA3353800 |
264 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3353801 rs371940179 |
264 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360496211 rs1173096477 |
266 | N>S | No |
ClinGen TOPMed |
|
|
rs770447013 CA3353803 |
267 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs776084384 CA3353804 |
269 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381475686 CA360496256 |
269 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3353806 rs748813298 |
271 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3353805 rs748813298 |
271 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs772582117 CA3353807 |
272 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs772582117 CA360496285 |
272 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA360496318 rs1561439418 |
274 | F>L | No |
ClinGen Ensembl |
|
|
CA360496330 rs1438453039 |
275 | Y>C | No |
ClinGen gnomAD |
|
|
CA360496357 rs1354400526 |
277 | F>Y | No |
ClinGen gnomAD |
|
|
rs760400295 CA3353811 |
278 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs766306281 CA3353812 |
279 | Y>F | No |
ClinGen ExAC |
|
|
rs766306281 CA3353813 |
279 | Y>S | No |
ClinGen ExAC |
|
|
CA3353814 rs758464462 |
280 | T>P | No |
ClinGen ExAC |
|
|
CA360496409 rs1323614490 |
281 | D>G | No |
ClinGen gnomAD |
|
|
rs1222336802 CA360496425 |
282 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1265098201 CA360496430 |
282 | E>D | No |
ClinGen gnomAD |
|
|
CA360496428 rs1222336802 |
282 | E>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 282 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360496446 rs1467256263 |
283 | S>N | No |
ClinGen gnomAD |
|
|
rs1180970446 CA360496453 |
283 | S>R | No |
ClinGen gnomAD |
|
|
rs1439670879 CA360496475 |
284 | N>K | No |
ClinGen gnomAD |
|
|
rs1239155918 CA360496468 |
284 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA360496491 rs1175957062 |
285 | E>K | No |
ClinGen gnomAD |
|
|
rs1406620165 CA360496518 |
286 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs759485721 CA3353833 |
288 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs569636769 CA3353834 |
289 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360499315 rs1360891166 |
290 | A>S | No |
ClinGen gnomAD |
|
|
rs1448650349 CA360499328 |
291 | A>T | No |
ClinGen gnomAD |
|
|
rs751683257 CA3353835 |
294 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317457871 CA360499445 |
297 | L>P | No |
ClinGen gnomAD |
|
|
rs1312187435 CA360499440 |
297 | L>V | No |
ClinGen TOPMed |
|
|
CA3353837 rs140889818 |
298 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360499466 rs1443551004 |
298 | A>V | No |
ClinGen gnomAD |
|
|
rs890475411 CA122979307 |
299 | A>T | No |
ClinGen TOPMed |
|
|
CA360499498 rs1255978481 |
301 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA360499496 rs1255978481 |
301 | S>F | No |
ClinGen gnomAD |
|
|
CA3353838 rs750671326 |
301 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs756608118 CA3353839 |
302 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360499595 rs1383872492 |
306 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 307 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360499700 rs1474874772 CA360499701 |
311 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA122979373 rs371798353 |
314 | T>N | No |
ClinGen Ensembl |
|
|
rs369304058 CA122979374 |
316 | I>V | No |
ClinGen ESP TOPMed |
|
|
CA360499837 rs1426979211 |
317 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1426979211 CA360499835 |
317 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs747693396 CA3353844 |
318 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1401933020 CA360499888 |
319 | I>M | No |
ClinGen gnomAD |
|
|
rs1007618969 CA122979381 |
320 | I>T | No |
ClinGen Ensembl |
|
|
CA360500022 rs1346190145 |
327 | A>D | No |
ClinGen gnomAD |
|
|
CA3353849 rs75452273 |
327 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 332 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360500070 rs1356389257 |
333 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs780651736 CA3353871 |
334 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA360500104 rs1451749890 |
336 | S>A | No |
ClinGen gnomAD |
|
|
CA3353873 rs151314827 |
338 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3353874 rs775557801 |
339 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1293869293 CA360500151 |
344 | V>I | No |
ClinGen TOPMed |
|
|
rs1363110631 CA360500161 |
345 | Q>R | No |
ClinGen gnomAD |
|
|
CA360500173 rs1392109129 |
347 | E>K | No |
ClinGen TOPMed |
|
|
rs149678569 CA360500193 |
349 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149678569 CA3353877 |
349 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1561441932 CA360500258 |
354 | M>I | No |
ClinGen Ensembl |
|
|
CA122980512 rs771084065 |
354 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 355 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760791739 CA3353878 |
356 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA360500292 rs1324354729 CA360500291 |
357 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA360500354 rs1167705922 |
362 | I>M | No |
ClinGen TOPMed |
|
|
rs1447929140 CA360500351 |
362 | I>T | No |
ClinGen gnomAD |
|
|
rs1402871005 CA360500346 |
362 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1430704104 CA360500366 |
363 | V>A | No |
ClinGen gnomAD |
|
|
CA360500375 rs1306937721 |
364 | G>E | No |
ClinGen gnomAD |
|
|
CA122980546 rs1021557369 |
366 | M>T | No |
ClinGen Ensembl |
|
|
rs766709145 CA3353879 |
367 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753998713 CA3353880 |
368 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs377307978 CA3353881 |
369 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360500471 rs1561441965 |
371 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3353882 rs146658817 |
371 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs41276279 CA3353884 |
373 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3353885 rs778203155 |
374 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA3353886 rs751082942 |
377 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA360501482 rs1479644655 |
379 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3353897 rs145310631 |
380 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138049850 CA3353898 |
381 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs759645274 CA3353899 |
383 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1422503399 CA360501542 |
383 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3353900 rs765457174 |
384 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA360501580 rs1478267127 |
385 | E>V | No |
ClinGen gnomAD |
|
|
CA3353901 rs775740215 |
387 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA3353903 rs188547319 |
388 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3353904 rs202095384 |
389 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3353905 rs202095384 |
389 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201614474 CA3353906 |
389 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360501639 rs1413636416 |
390 | V>F | No |
ClinGen gnomAD |
|
|
CA3353907 rs750132445 |
391 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs75302290 CA122985794 |
393 | A>D | No |
ClinGen Ensembl |
|
| TCGA novel | 393 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA122985776 rs903025397 |
393 | A>T | No |
ClinGen TOPMed |
|
|
CA360501753 rs1342053416 |
398 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA360501759 rs1382415569 |
399 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA122985802 rs1002552183 |
399 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA360501774 rs1305579915 |
402 | E>Q | No |
ClinGen gnomAD |
|
|
rs1280972480 CA360501790 |
404 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 405 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs74803412 CA360501800 |
405 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs74803412 CA3353909 |
405 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 405 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754811117 CA3353911 |
407 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360501821 rs1440750717 |
408 | F>L | No |
ClinGen TOPMed |
|
|
CA360501834 rs1561444811 |
409 | E>D | No |
ClinGen Ensembl |
|
|
CA360501844 rs1218365857 |
411 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1259860892 CA360501872 |
412 | Y>* | No |
ClinGen gnomAD |
|
| TCGA novel | 416 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1194719216 CA360501957 |
420 | V>L | No |
ClinGen gnomAD |
|
|
CA360501973 rs1252739516 |
422 | I>M | No |
ClinGen gnomAD |
|
|
CA3353929 rs778817627 |
424 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA360501994 rs1280935953 |
425 | F>L | No |
ClinGen TOPMed |
|
|
rs1482680196 CA360501989 |
425 | F>V | No |
ClinGen TOPMed |
|
|
CA3353930 rs575528979 |
428 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3353931 rs758290092 |
430 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs993551228 CA122986473 |
431 | E>K | No |
ClinGen TOPMed |
|
|
rs777708122 CA3353932 |
432 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360502048 rs1343135445 |
433 | W>* | No |
ClinGen gnomAD |
|
|
rs745939514 CA3353933 |
438 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA122986490 rs1009157539 |
439 | R>* | No |
ClinGen TOPMed |
|
|
CA3353934 rs543155083 |
439 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3353935 rs543155083 |
439 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1393499425 CA360502106 |
442 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 444 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1315315004 CA360502116 |
444 | L>P | No |
ClinGen TOPMed |
|
|
CA360502114 rs1438384399 |
444 | L>V | No |
ClinGen gnomAD |
|
|
CA122986499 rs900687421 |
445 | Y>C | No |
ClinGen TOPMed |
|
|
CA122986508 rs1018206072 |
446 | D>H | No |
ClinGen Ensembl |
|
|
rs200199661 CA122986515 |
447 | S>N | No |
ClinGen 1000Genomes |
|
|
CA3353937 rs769051006 |
448 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3353938 rs757155329 |
449 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360502154 rs996179795 |
450 | S>C | No |
ClinGen gnomAD |
|
|
rs996179795 CA122986543 |
450 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 451 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs181396029 CA3353939 |
452 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360502173 rs1467432611 |
453 | A>V | No |
ClinGen gnomAD |
|
|
CA3353942 rs374691468 |
455 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360502201 rs1470066769 |
457 | L>P | No |
ClinGen gnomAD |
|
|
rs1359618566 CA360502218 |
460 | K>R | No |
ClinGen gnomAD |
|
|
rs1176178300 CA360502224 |
461 | I>V | No |
ClinGen gnomAD |
|
|
rs376891046 CA3353943 |
462 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM593793 CA360502244 rs1165225079 |
464 | H>Y | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3353945 rs759290846 |
467 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459685921 CA360502272 |
468 | H>R | No |
ClinGen gnomAD |
|
|
rs199799148 CA122986589 |
469 | Q>K | No |
ClinGen gnomAD |
|
|
rs1355101260 CA360502279 |
469 | Q>R | No |
ClinGen gnomAD |
|
|
CA360502544 rs1194919634 |
474 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA3353964 rs771522067 |
475 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs779684633 CA122988301 |
476 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 476 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1474967229 CA360502575 |
477 | M>I | No |
ClinGen gnomAD |
|
|
CA360502569 rs1277713177 |
477 | M>T | No |
ClinGen TOPMed |
|
|
rs1449441021 CA360502577 |
478 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
COSM738856 CA360502601 rs1345311327 |
479 | W>* | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA360502611 rs1184488537 TCGA novel |
480 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA360502626 rs1220168820 |
481 | N>D | No |
ClinGen gnomAD |
|
|
rs199746447 CA3353965 |
483 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360502692 rs1435245618 |
487 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs759056994 CA3353966 |
488 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs759056994 CA360502705 |
488 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs764985717 CA3353967 |
491 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1322976035 CA360502750 |
492 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 500 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1449306576 CA360502830 |
501 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3353971 rs751493023 |
502 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs757220058 CA3353972 |
505 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA360502869 rs1278816905 |
506 | S>F | No |
ClinGen TOPMed |
|
|
CA3353973 rs767396229 |
507 | S>R | No |
ClinGen ExAC |
|
|
rs1440570712 CA360502948 |
508 | Y>C | No |
ClinGen gnomAD |
|
|
rs1395717467 CA360502944 |
508 | Y>H | No |
ClinGen gnomAD |
|
|
rs1015957487 CA122989218 |
510 | D>E | No |
ClinGen Ensembl |
|
|
rs961080152 CA122989211 |
510 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1279616173 CA360502984 |
513 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA360502991 rs1221685748 |
514 | A>D | No |
ClinGen gnomAD |
|
|
CA360502988 rs1361855157 |
514 | A>T | No |
ClinGen TOPMed |
|
|
COSM1196970 CA3353993 rs750360079 |
515 | R>Q | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA360503003 rs1468767410 |
516 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3353994 rs755113348 |
517 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360503024 rs1029306255 CA122989267 |
519 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs199540200 CA3353995 |
519 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1182684955 CA360503039 |
521 | K>R | No |
ClinGen gnomAD |
|
|
CA360503046 rs1468635262 |
522 | D>G | No |
ClinGen gnomAD |
|
|
rs1273126921 CA360503077 |
526 | S>P | No |
ClinGen gnomAD |
|
|
CA3354001 rs201472422 |
530 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA122989328 rs371928156 COSM397315 |
531 | S>L | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs533337519 COSM1071501 CA3354003 |
534 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs1334691823 CA360503177 |
535 | Q>R | No |
ClinGen gnomAD |
|
|
rs1294759084 CA360503222 |
539 | Q>R | No |
ClinGen gnomAD |
|
|
CA3354005 rs748704674 |
543 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs933141649 CA122989363 |
545 | D>V | No |
ClinGen gnomAD |
|
|
CA122989371 rs373856729 |
547 | L>F | No |
ClinGen Ensembl |
|
|
CA3354006 rs768356683 |
548 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263435147 CA360503334 |
549 | Y>H | No |
ClinGen gnomAD |
|
|
CA3354033 rs747763329 |
554 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA3354035 rs375155698 |
555 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1375556279 CA360503965 |
556 | L>F | No |
ClinGen gnomAD |
|
|
CA3354036 rs760398295 |
561 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA360504006 rs1467219525 |
562 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs888440798 CA122992828 |
562 | Y>H | No |
ClinGen Ensembl |
|
|
rs770916753 CA360504029 |
565 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3354039 rs763161479 |
571 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs764050220 CA360504082 |
573 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs764050220 CA3354040 |
573 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs762147453 CA3354042 |
574 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3354043 rs767807468 |
575 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3354046 rs780666358 |
577 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3354045 rs756373927 |
577 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 577 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754293178 CA3354047 |
578 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs755338825 CA122992890 |
579 | H>R | No |
ClinGen Ensembl |
|
|
CA360504146 rs747620719 |
581 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3354049 COSM1311407 rs200018527 |
581 | Y>C | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3354048 rs200018527 |
581 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA3354052 rs368404755 |
583 | S>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs62377060 CA122992919 |
584 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 585 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746882050 CA3354053 |
586 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA122992932 rs923205952 |
587 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA360504221 rs1346653295 |
588 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA360504256 rs1288108172 |
591 | D>G | No |
ClinGen gnomAD |
|
|
rs770628159 CA3354054 |
591 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs200164948 CA3354055 |
592 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3354056 rs759369692 |
594 | N>D | No |
ClinGen ExAC gnomAD |
|
|
VAR_051567 CA122992941 rs12520455 |
594 | N>I | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA3354078 rs755474128 |
597 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs765669666 CA3354079 |
598 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs568047936 CA122994757 |
601 | L>I | No |
ClinGen 1000Genomes TOPMed |
|
|
rs757892935 CA3354081 |
606 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA122994791 rs200982864 |
606 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1207276035 CA360504994 |
607 | M>V | No |
ClinGen gnomAD |
|
|
CA3354082 rs777470443 |
609 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA360505029 rs1477263944 |
609 | T>N | No |
ClinGen TOPMed |
|
| TCGA novel | 609 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1276268729 CA360505044 |
610 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1480681005 CA360505063 |
611 | T>A | No |
ClinGen gnomAD |
|
|
CA360505068 rs1180743846 |
611 | T>I | No |
ClinGen gnomAD |
|
|
CA3354083 rs746613270 |
612 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA360505082 rs1165432630 |
613 | Q>R | No |
ClinGen gnomAD |
|
|
rs1412843195 CA360505112 |
615 | G>R | No |
ClinGen gnomAD |
|
|
rs1172463433 CA360505182 |
620 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1354974361 COSM1311408 CA360505196 |
622 | Q>E | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3354084 rs149073684 |
623 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3354085 rs373937178 |
626 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360505277 rs1582022076 |
628 | L>I | No |
ClinGen Ensembl |
|
|
CA360505295 rs369518351 |
629 | F>C | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 629 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369518351 CA3354086 |
629 | F>S | No |
ClinGen ESP ExAC TOPMed |
|
|
CA3354088 rs563274580 |
630 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748293981 CA3354089 |
630 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs563274580 CA3354087 |
630 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772270397 CA3354090 |
632 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1071503 rs1342637624 CA360505350 |
633 | E>D | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA3354092 rs760781173 |
634 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1274327721 CA360505425 |
639 | M>V | No |
ClinGen gnomAD |
|
|
rs1203886591 CA360505467 |
641 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3354093 rs72775875 |
641 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3354095 rs759889870 |
642 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3354094 rs776868157 |
642 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 646 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3354097 rs753199773 |
648 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs372457895 CA3354116 |
650 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA122995149 rs372457895 |
650 | Y>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360505640 rs1423395237 |
650 | Y>S | No |
ClinGen gnomAD |
|
|
rs1388395032 CA360505679 |
652 | W>* | No |
ClinGen gnomAD |
|
|
rs751035331 CA3354118 |
652 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA3354119 rs761326897 |
653 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA3354120 rs767132145 |
654 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1297890270 CA360505711 |
655 | P>L | No |
ClinGen TOPMed |
|
|
rs750083084 CA3354121 |
655 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3354123 rs369869427 |
657 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 657 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753635045 CA3354124 |
658 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs754973623 CA3354125 |
659 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284455479 CA360505805 |
663 | R>G | No |
ClinGen gnomAD |
|
|
CA360505842 rs1345538490 |
665 | Y>H | No |
ClinGen gnomAD |
|
|
rs771041446 CA3354128 |
668 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs781310934 CA3354129 |
669 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3354131 rs769954610 |
670 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA360505909 rs769954610 |
670 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs928955997 CA122995222 |
671 | V>L | No |
ClinGen Ensembl |
|
|
CA122995227 rs868691550 |
672 | S>L | No |
ClinGen Ensembl |
|
| TCGA novel | 680 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360507250 rs1392515712 |
680 | V>I | No |
ClinGen TOPMed |
|
|
CA3354151 rs148283748 |
682 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1582028208 CA360507271 |
683 | L>V | No |
ClinGen Ensembl |
|
|
CA3354152 rs749708277 |
685 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs769059564 CA3354153 |
686 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3354154 rs774756993 |
689 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA3354155 rs141348665 |
690 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772405762 CA3354156 |
692 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1482094526 CA360507361 |
696 | M>I | No |
ClinGen gnomAD |
|
|
rs528948935 CA3354159 |
696 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3354160 rs766197000 |
698 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360507375 rs766197000 |
698 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360507381 rs1222083412 |
699 | Y>C | No |
ClinGen TOPMed |
|
|
CA3354163 rs759292119 |
701 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1453539509 CA360507397 |
701 | I>T | No |
ClinGen TOPMed |
|
|
rs752387322 CA3354164 |
702 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs758391666 CA3354165 |
703 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758391666 CA3354166 |
703 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360507415 rs1476014023 |
704 | Y>C | No |
ClinGen gnomAD |
|
|
rs750514830 CA3354167 |
705 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360507420 rs1168720484 |
705 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 708 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3354168 rs756172471 |
709 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA360507463 COSM371945 rs1402465391 |
711 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs749479362 CA3354170 |
714 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs755344838 CA123004387 |
716 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779355690 CA3354172 |
720 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1478438807 CA360507544 |
723 | L>V | No |
ClinGen TOPMed |
|
|
CA360507554 rs1439117660 |
724 | S>N | No |
ClinGen TOPMed |
|
|
CA3354173 rs748418095 |
725 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA360507575 rs1213026721 |
727 | D>A | No |
ClinGen gnomAD |
|
| TCGA novel | 727 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3354175 rs773845849 |
728 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs773845849 CA360507582 |
728 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs565863278 CA3354176 |
729 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1321240897 CA360507589 |
730 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA360507590 rs1321240897 |
730 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA3354177 rs115879784 |
730 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360507597 rs1412657592 |
731 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 734 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA123004414 rs374190284 |
735 | I>V | No |
ClinGen ESP TOPMed |
|
|
rs759256640 CA3354179 |
739 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs147259079 CA123004420 |
740 | G>R | No |
ClinGen ESP |
|
|
CA3354200 rs769501083 |
741 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370258042 CA3354203 |
744 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360507821 rs370258042 CA3354202 |
744 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3354205 rs200935086 |
745 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 751 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM198906 rs767400360 CA3354206 |
752 | L>F | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs753952970 CA3354207 |
753 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1561452808 CA360507930 |
754 | N>D | No |
ClinGen Ensembl |
|
|
CA360507947 rs1486199904 |
755 | Y>C | No |
ClinGen TOPMed |
|
|
rs1228219091 CA360507978 |
757 | G>E | No |
ClinGen gnomAD |
|
|
CA123004863 rs768595901 |
759 | E>* | No |
ClinGen Ensembl |
|
|
rs765565950 CA3354209 |
761 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1266594447 CA360508066 |
761 | H>Y | No |
ClinGen gnomAD |
|
|
rs2303138 CA3354210 VAR_012812 |
763 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1442402047 CA360508121 |
765 | I>V | No |
ClinGen TOPMed |
|
|
rs778308598 CA3354212 |
767 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA360508213 rs900201851 |
771 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA3354213 rs751933040 |
772 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs534848892 CA123004905 |
772 | T>I | No |
ClinGen 1000Genomes |
|
|
rs757844165 CA3354214 |
773 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1213651958 CA360508259 |
775 | I>L | No |
ClinGen TOPMed |
|
|
rs1409523989 CA360508309 |
776 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs745441985 CA3354217 |
778 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs779794615 CA3354219 |
785 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360508477 rs1349163221 |
785 | M>V | No |
ClinGen gnomAD |
|
|
rs376371115 CA3354220 |
786 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764808344 CA123004948 |
791 | L>M | No |
ClinGen Ensembl |
|
|
rs149835144 CA3354222 |
792 | V>M | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1216857628 CA360510073 |
794 | R>K | No |
ClinGen gnomAD |
|
|
rs1226938893 CA360510233 |
803 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 804 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3354236 rs755698265 |
806 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs779451467 CA3354237 |
807 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1236714222 CA360510346 |
809 | T>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 812 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1323434993 CA360510399 |
812 | G>V | No |
ClinGen gnomAD |
|
|
CA3354240 rs778476873 |
814 | P>A | No |
ClinGen ExAC |
|
|
CA360510427 rs1329477357 |
814 | P>L | No |
ClinGen TOPMed |
|
|
CA360510429 rs1449014885 |
815 | S>T | No |
ClinGen gnomAD |
|
|
rs868228524 CA123009860 |
816 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA123009869 rs371529503 |
817 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
CA3354241 rs747992426 |
817 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3354242 rs771825393 |
818 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3354243 rs376619456 |
820 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 820 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1433254841 CA360510594 |
827 | A>V | No |
ClinGen gnomAD |
|
|
CA123009879 rs925038079 |
828 | C>S | No |
ClinGen Ensembl |
|
|
rs74662273 CA123009885 |
831 | N>T | No |
ClinGen Ensembl |
|
|
rs77632250 CA123009915 |
832 | L>R | No |
ClinGen Ensembl |
|
|
CA360510635 rs537024796 |
833 | G>E | No |
ClinGen gnomAD |
|
|
CA123009924 rs537024796 |
833 | G>V | No |
ClinGen gnomAD |
|
|
CA360510657 rs1294729695 |
836 | S>F | No |
ClinGen gnomAD |
|
|
CA360510659 rs1219473102 |
837 | T>A | No |
ClinGen gnomAD |
|
|
rs764470801 CA3354248 |
838 | T>A | No |
ClinGen ExAC |
|
|
rs1277408477 CA360510669 |
838 | T>I | No |
ClinGen gnomAD |
|
|
rs767749347 CA3354251 |
840 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1464366043 CA360510738 |
844 | D>N | No |
ClinGen gnomAD |
|
|
CA3354254 rs142966856 |
845 | D>G | No |
ClinGen ESP ExAC TOPMed |
|
|
rs753357549 CA3354255 |
846 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA3354256 rs754468116 |
848 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA123009978 rs917790220 |
848 | A>V | No |
ClinGen Ensembl |
|
|
CA3354257 rs144235120 |
850 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA123009983 rs1045417907 |
851 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3354258 rs747779437 |
851 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1160349794 CA360510845 |
853 | Q>L | No |
ClinGen gnomAD |
|
|
CA360510857 rs1388600074 |
854 | S>I | No |
ClinGen gnomAD |
|
|
rs773449828 CA3354271 |
855 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773449828 CA3354272 |
855 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA123011571 rs889700562 |
856 | P>R | No |
ClinGen TOPMed |
|
|
CA3354273 rs766850334 |
856 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1417281751 CA360511035 |
860 | M>V | No |
ClinGen TOPMed |
|
|
CA360511096 rs1249678990 |
865 | K>R | No |
ClinGen TOPMed |
|
|
CA3354275 rs759100014 |
866 | V>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1411315231 CA360511120 |
867 | G>A | No |
ClinGen gnomAD |
|
|
CA3354276 rs146669577 |
868 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3354277 rs752167497 |
869 | K>N | No |
ClinGen ExAC |
|
|
CA360511166 rs1349668425 |
871 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA360511174 rs1236530984 |
872 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA123011579 rs1017540014 |
872 | K>R | No |
ClinGen Ensembl |
|
|
rs757995821 CA3354278 |
873 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA360511226 rs1394273238 |
875 | S>L | No |
ClinGen gnomAD |
|
|
CA3354279 rs777427606 |
875 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 876 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs958059883 CA123011585 |
876 | F>S | No |
ClinGen TOPMed |
|
|
CA123011594 rs373865230 |
879 | G>D | No |
ClinGen gnomAD |
|
|
rs373865230 CA360511280 |
879 | G>V | No |
ClinGen gnomAD |
|
|
rs1360414938 CA360511308 |
881 | Y>C | No |
ClinGen TOPMed |
|
|
rs564392383 CA3354280 |
882 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757072261 CA3354281 |
884 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251269183 CA360511335 |
885 | G>R | No |
ClinGen gnomAD |
|
|
rs1190030398 CA360511356 |
888 | A>S | No |
ClinGen gnomAD |
|
|
rs144044667 CA123011631 |
893 | I>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3354282 rs781319787 |
893 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs375535372 CA3354283 |
895 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1382881944 CA360511412 |
896 | A>V | No |
ClinGen gnomAD |
|
|
rs1344093164 CA360511417 |
897 | L>F | No |
ClinGen TOPMed |
|
|
CA3354284 rs769804110 |
898 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA3354285 rs769804110 |
898 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3354286 rs748192243 |
899 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 901 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 902 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3354289 rs373163003 |
904 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3354288 rs773468346 |
904 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs796425035 CA123012970 |
908 | W>* | No |
ClinGen TOPMed |
|
|
CA360511966 rs1235732586 |
911 | K>E | No |
ClinGen gnomAD |
|
|
CA360512002 rs1344760382 |
913 | S>R | No |
ClinGen gnomAD |
|
|
VAR_051568 rs17087233 CA3354302 |
913 | S>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA360512027 rs748230237 |
915 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772185923 CA3354304 |
917 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs372486913 CA123012983 |
919 | F>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs777894245 CA360512081 |
920 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA3354306 rs556954479 |
920 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs553737068 CA3354307 |
925 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360512153 rs1200552532 |
926 | F>S | No |
ClinGen gnomAD |
|
|
CA3354308 rs776988261 |
928 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs140772502 CA3354309 |
930 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1173957257 CA360512183 |
931 | V>L | No |
ClinGen gnomAD |
|
|
CA360512192 rs1221153763 |
932 | G>V | No |
ClinGen TOPMed |
|
|
CA3354311 rs770343436 |
933 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375767683 CA3354312 |
936 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150153611 CA3354314 |
940 | L>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1301482770 CA360512250 |
942 | W>G | No |
ClinGen TOPMed |
|
|
rs1302255433 CA360512262 |
943 | D>A | No |
ClinGen gnomAD |
|
|
CA3354316 rs761557416 |
943 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA360512286 rs1222121222 |
946 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1330729683 CA360512280 |
946 | K>Q | No |
ClinGen gnomAD |
|
|
rs1270380331 CA360512295 |
947 | E>D | No |
ClinGen gnomAD |
|
|
CA360512318 rs1330194044 |
950 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1208662941 CA360512339 |
953 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3354317 rs767210931 |
954 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1484644443 CA360512345 |
954 | Q>R | No |
ClinGen gnomAD |
|
|
rs370956909 CA123013735 |
957 | P>L | No |
ClinGen ESP gnomAD |
|
|
CA360512710 rs1265543200 |
957 | P>T | No |
ClinGen gnomAD |
|
|
COSM4137906 CA360512727 rs1582039039 |
959 | G>E | ovary [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs773916168 CA3354333 |
959 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483300569 COSM1071506 CA360512754 |
961 | Y>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA360512771 rs11746232 |
963 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_031617 CA3354336 rs11746232 |
963 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs900002781 CA123013757 |
968 | A>T | No |
ClinGen TOPMed |
|
|
rs1213292946 CA360512865 |
972 | Y>* | No |
ClinGen TOPMed |
|
|
CA360512869 rs1165347215 |
973 | L>Q | No |
ClinGen gnomAD |
|
|
CA3354338 rs766252170 |
976 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374339256 CA3354339 |
977 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754951262 CA3354340 |
978 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA360513004 rs1421467056 |
983 | V>F | No |
ClinGen gnomAD |
|
|
CA3354370 rs772655254 |
985 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA123014405 rs1043172195 |
990 | Q>K | No |
ClinGen TOPMed |
|
|
rs746462911 CA3354373 |
991 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs770679322 CA3354374 |
992 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1429334361 CA360513206 |
995 | F>L | No |
ClinGen gnomAD |
|
|
CA3354378 rs761580978 |
996 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs375167356 CA3354379 |
996 | R>Q | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs761580978 CA3354377 |
996 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1047945256 CA123014477 COSM1177098 |
998 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA3354381 rs371955354 |
998 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360513256 rs1268608522 |
999 | C>R | No |
ClinGen gnomAD |
|
|
CA360513265 rs1446568107 |
999 | C>W | No |
ClinGen gnomAD |
|
|
rs111443369 CA123014505 |
1000 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs766690205 CA3354383 |
1001 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA123014514 rs79776453 |
1003 | A>S | No |
ClinGen Ensembl |
|
|
CA3354385 rs755415670 |
1003 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1473744901 CA360513416 |
1008 | Q>R | No |
ClinGen gnomAD |
|
|
rs1332473176 CA360513472 |
1011 | I>N | No |
ClinGen TOPMed |
|
|
rs758989573 CA3354388 |
1013 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA360513511 rs1272275283 |
1014 | M>V | No |
ClinGen TOPMed |
|
|
rs1582039725 CA360513526 |
1015 | E>G | No |
ClinGen Ensembl |
|
|
rs1234170342 CA360513530 |
1016 | K>E | No |
ClinGen TOPMed |
|
|
rs769532716 CA3354390 |
1016 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746587593 CA3354391 |
1017 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA3354392 rs147001588 |
1019 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1363517648 CA360513564 |
1021 | L>I | No |
ClinGen Ensembl |
|
|
CA3354394 rs745530633 |
1023 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1336424196 CA360513578 |
1023 | W>G | No |
ClinGen TOPMed |
|
|
rs1343413341 CA360513587 |
1024 | W>* | No |
ClinGen gnomAD |
|
|
rs1354831141 CA360513585 |
1024 | W>G | No |
ClinGen gnomAD |
|
|
rs1349845045 CA360513595 |
1025 | L>Q | No |
ClinGen gnomAD |
|
|
rs1222181420 CA360513603 |
1026 | L>W | No |
ClinGen gnomAD |
No associated diseases with Q9UIQ6
Functions
| Description | ||
|---|---|---|
| EC Number | 3.4.11.3 | Aminopeptidases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic vesicle membrane | The lipid bilayer surrounding a cytoplasmic vesicle. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| early endosome lumen | The volume enclosed by the membrane of an early endosome. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| aminopeptidase activity | Catalysis of the hydrolysis of a single N-terminal amino acid residue from a polypeptide chain. |
| metalloaminopeptidase activity | Catalysis of the hydrolysis of a single N-terminal amino acid residue from a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions. |
| metallopeptidase activity | Catalysis of the hydrolysis of peptide bonds by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions. |
| peptide binding | Binding to a peptide, an organic compound comprising two or more amino acids linked by peptide bonds. |
| zinc ion binding | Binding to a zinc ion (Zn). |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent | The process in which an antigen-presenting cell expresses a peptide antigen of exogenous origin on its cell surface in association with an MHC class I protein complex following intracellular transport via a pathway not requiring TAP (transporter associated with antigen processing). The peptide is typically a fragment of a larger exogenous protein which has been degraded within the cell. Class I here refers to classical class I molecules. |
| cell-cell signaling | Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. |
| female pregnancy | The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth. |
| negative regulation of cold-induced thermogenesis | Any process that stops, prevents, or reduces the rate of cold-induced thermogenesis. |
| peptide catabolic process | The chemical reactions and pathways resulting in the breakdown of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. |
| protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds. |
| protein polyubiquitination | Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain. |
| proteolysis | The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. |
| regulation of blood pressure | Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| SMAD protein signal transduction | The cascade of processes by which a signal interacts with a receptor, causing a change in the activity of a SMAD protein, and ultimately effecting a change in the functioning of the cell. |
22 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P40462 | TMA108 | Protein TMA108 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P32454 | APE2 | Aminopeptidase 2, mitochondrial | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P79171 | ANPEP | Aminopeptidase N | Felis catus (Cat) (Felis silvestris catus) | PR |
| Q9NZ08 | ERAP1 | Endoplasmic reticulum aminopeptidase 1 | Homo sapiens (Human) | PR |
| P15144 | ANPEP | Aminopeptidase N | Homo sapiens (Human) | PR |
| Q9UKU6 | TRHDE | Thyrotropin-releasing hormone-degrading ectoenzyme | Homo sapiens (Human) | PR |
| P55786 | NPEPPS | Puromycin-sensitive aminopeptidase | Homo sapiens (Human) | PR |
| Q11011 | Npepps | Puromycin-sensitive aminopeptidase | Mus musculus (Mouse) | PR |
| Q8K093 | Trhde | Thyrotropin-releasing hormone-degrading ectoenzyme | Mus musculus (Mouse) | PR |
| P97449 | Anpep | Aminopeptidase N | Mus musculus (Mouse) | PR |
| Q9EQH2 | Erap1 | Endoplasmic reticulum aminopeptidase 1 | Mus musculus (Mouse) | PR |
| Q8C129 | Lnpep | Leucyl-cystinyl aminopeptidase | Mus musculus (Mouse) | PR |
| P15145 | ANPEP | Aminopeptidase N | Sus scrofa (Pig) | PR |
| Q10836 | Trhde | Thyrotropin-releasing hormone-degrading ectoenzyme | Rattus norvegicus (Rat) | PR |
| Q9JJ22 | Erap1 | Endoplasmic reticulum aminopeptidase 1 | Rattus norvegicus (Rat) | PR |
| P15684 | Anpep | Aminopeptidase N | Rattus norvegicus (Rat) | PR |
| P97629 | Lnpep | Leucyl-cystinyl aminopeptidase | Rattus norvegicus (Rat) | PR |
| Q0J5V5 | Os08g0398700 | Aminopeptidase M1-B | Oryza sativa subsp japonica (Rice) | PR |
| Q6Z6L4 | Os02g0218200 | Aminopeptidase M1-A | Oryza sativa subsp japonica (Rice) | PR |
| Q6K4E7 | Os09g0362800 | Aminopeptidase M1-D | Oryza sativa subsp japonica (Rice) | PR |
| Q17405 | AC3.5 | Aminopeptidase-like protein AC3.5 | Caenorhabditis elegans | PR |
| Q8VZH2 | APM1 | Aminopeptidase M1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEPFTNDRLQ | LPRNMIENSM | FEEEPDVVDL | AKEPCLHPLE | PDEVEYEPRG | SRLLVRGLGE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HEMEEDEEDY | ESSAKLLGMS | FMNRSSGLRN | SATGYRQSPD | GACSVPSART | MVVCAFVIVV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AVSVIMVIYL | LPRCTFTKEG | CHKKNQSIGL | IQPFATNGKL | FPWAQIRLPT | AVVPLRYELS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LHPNLTSMTF | RGSVTISVQA | LQVTWNIILH | STGHNISRVT | FMSAVSSQEK | QAEILEYAYH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GQIAIVAPEA | LLAGHNYTLK | IEYSANISSS | YYGFYGFSYT | DESNEKKYFA | ATQFEPLAAR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SAFPCFDEPA | FKATFIIKII | RDEQYTALSN | MPKKSSVVLD | DGLVQDEFSE | SVKMSTYLVA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FIVGEMKNLS | QDVNGTLVSI | YAVPEKIGQV | HYALETTVKL | LEFFQNYFEI | QYPLKKLDLV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AIPDFEAGAM | ENWGLLTFRE | ETLLYDSNTS | SMADRKLVTK | IIAHELAHQW | FGNLVTMKWW |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NDLWLNEGFA | TFMEYFSLEK | IFKELSSYED | FLDARFKTMK | KDSLNSSHPI | SSSVQSSEQI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EEMFDSLSYF | KGSSLLLMLK | TYLSEDVFQH | AVVLYLHNHS | YASIQSDDLW | DSFNEVTNQT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LDVKRMMKTW | TLQKGFPLVT | VQKKGKELFI | QQERFFLNMK | PEIQPSDTSY | LWHIPLSYVT |
| 670 | 680 | 690 | 700 | 710 | 720 |
| EGRNYSKYQS | VSLLDKKSGV | INLTEEVLWV | KVNINMNGYY | IVHYADDDWE | ALIHQLKINP |
| 730 | 740 | 750 | 760 | 770 | 780 |
| YVLSDKDRAN | LINNIFELAG | LGKVPLKRAF | DLINYLGNEN | HTAPITEALF | QTDLIYNLLE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| KLGYMDLASR | LVTRVFKLLQ | NQIQQQTWTD | EGTPSMRELR | SALLEFACTH | NLGNCSTTAM |
| 850 | 860 | 870 | 880 | 890 | 900 |
| KLFDDWMASN | GTQSLPTDVM | TTVFKVGAKT | DKGWSFLLGK | YISIGSEAEK | NKILEALASS |
| 910 | 920 | 930 | 940 | 950 | 960 |
| EDVRKLYWLM | KSSLNGDNFR | TQKLSFIIRT | VGRHFPGHLL | AWDFVKENWN | KLVQKFPLGS |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| YTIQNIVAGS | TYLFSTKTHL | SEVQAFFENQ | SEATFRLRCV | QEALEVIQLN | IQWMEKNLKS |
| LTWWL |