Q92995
PR
Gene name |
USP13 (ISOT3) |
Protein name |
Ubiquitin carboxyl-terminal hydrolase 13 |
Names |
Deubiquitinating enzyme 13, Isopeptidase T-3, ISOT-3, Ubiquitin thioesterase 13, Ubiquitin-specific-processing protease 13 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8975 |
EC number |
3.4.19.12: Omega peptidases |
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
3 structures for Q92995
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2L80 | NMR | - | A | 188-301 | PDB |
| 2LBC | NMR | - | A | 652-777 | PDB |
| AF-Q92995-F1 | Predicted | AlphaFoldDB |
624 variants for Q92995
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1165992760 CA355276330 |
3 | R>P | No |
ClinGen gnomAD |
|
|
CA355276355 rs374896625 |
4 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2713580 rs374896625 |
4 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762543429 CA2713581 |
5 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA88604107 rs368406240 |
6 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA355276456 rs766061134 |
9 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766061134 CA2713582 |
9 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209230747 CA355276508 |
10 | M>I | No |
ClinGen TOPMed |
|
|
CA355276468 rs1312368596 |
10 | M>L | No |
ClinGen gnomAD |
|
|
CA355276486 rs1358094651 |
10 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs867359191 CA88604141 |
11 | P>Q | No |
ClinGen gnomAD |
|
|
rs867359191 CA355276525 |
11 | P>R | No |
ClinGen gnomAD |
|
|
rs751125711 CA2713583 |
11 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA355276561 rs1194952653 |
12 | G>R | No |
ClinGen gnomAD |
|
|
rs1316289407 CA355276586 |
12 | G>V | No |
ClinGen TOPMed |
|
|
CA88604163 rs534070013 |
14 | S>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs867529615 CA88604165 |
14 | S>R | No |
ClinGen gnomAD |
|
|
CA355276660 rs1367769480 |
15 | G>R | No |
ClinGen TOPMed |
|
|
rs753184602 CA2713586 |
16 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2713588 rs778025556 |
18 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355276779 rs1461809817 |
19 | M>I | No |
ClinGen gnomAD |
|
|
rs749627571 CA88604181 |
20 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs749627571 CA2713589 |
20 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs373833022 CA2713590 |
21 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411367543 CA355276857 |
22 | G>* | No |
ClinGen gnomAD |
|
|
CA355276859 rs1334264075 |
22 | G>E | No |
ClinGen gnomAD |
|
|
CA355276885 rs1381461431 |
23 | D>H | No |
ClinGen gnomAD |
|
|
CA355276913 rs1181100995 |
24 | I>M | No |
ClinGen gnomAD |
|
|
CA2713591 rs779051347 |
24 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781272923 CA2713592 |
27 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355277044 rs1226596053 |
30 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 31 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2713593 rs772176590 |
31 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1202052080 CA355277165 |
32 | M>I | No |
ClinGen gnomAD |
|
|
CA2713594 rs147844491 |
32 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs917147961 CA88604230 |
33 | P>A | No |
ClinGen Ensembl |
|
|
rs748058476 CA2713595 |
36 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452840925 CA355277769 |
46 | K>R | No |
ClinGen TOPMed |
|
|
rs2276803 CA2713597 |
47 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1428513328 CA355277864 |
48 | E>K | No |
ClinGen gnomAD |
|
|
CA355277934 rs1375195667 |
49 | C>* | No |
ClinGen gnomAD |
|
|
rs1194507358 CA355277898 |
49 | C>R | No |
ClinGen gnomAD |
|
|
CA355277952 rs1477228629 |
50 | A>T | No |
ClinGen gnomAD |
|
|
CA2713599 rs766266327 |
51 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA88604278 rs954172080 |
53 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1393503560 CA355278149 |
54 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA88604312 rs980045471 |
54 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2713600 rs376341612 |
55 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA88604339 rs925927683 |
56 | P>A | No |
ClinGen gnomAD |
|
|
CA355278189 rs925927683 |
56 | P>T | No |
ClinGen gnomAD |
|
|
CA2713612 rs747042364 |
60 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1358005322 CA355263671 |
61 | G>V | No |
ClinGen gnomAD |
|
|
rs1490934040 CA355263716 |
64 | V>I | No |
ClinGen gnomAD |
|
|
CA355263769 rs1247918374 |
66 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 68 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 70 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355263886 rs1159115926 |
76 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA355263908 rs1365027012 |
79 | R>S | No |
ClinGen gnomAD |
|
|
rs774266692 CA355263910 |
80 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261910861 CA355263913 |
80 | H>R | No |
ClinGen TOPMed |
|
|
rs774266692 CA2713617 |
80 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759284752 CA355263925 |
82 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs759284752 CA2713618 |
82 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA88583647 rs941638970 |
82 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs941638970 CA355263926 COSM264595 |
82 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1258942307 CA355263952 |
86 | Q>R | No |
ClinGen Ensembl |
|
|
rs1392173484 CA355263986 COSM729780 |
90 | M>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1200897287 CA355264022 |
95 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2713622 rs763501098 |
95 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA88583662 rs372042233 |
97 | R>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2713624 rs762281471 |
97 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2713644 rs763365010 |
100 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA88588928 rs750798738 |
100 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2713643 rs750798738 |
100 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2713646 rs751850507 |
103 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2713647 rs755134477 |
103 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2713650 rs61760203 |
107 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2713652 rs745791101 |
110 | K>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 111 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 111 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1222505439 CA355266833 |
112 | R>K | No |
ClinGen gnomAD |
|
|
rs779689069 CA2713654 |
113 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs771971543 CA2713653 |
113 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs746694163 CA2713655 |
115 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2713657 rs145034700 |
115 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2713656 rs768148729 |
115 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426938381 CA355266922 |
116 | I>N | No |
ClinGen gnomAD |
|
|
rs753693643 CA2713658 |
117 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2713660 rs773773506 |
118 | L>* | No |
ClinGen ExAC gnomAD |
|
| rs1560050064 | 118 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs77083687 CA2713659 |
118 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1320267542 CA355267011 |
119 | D>H | No |
ClinGen TOPMed |
|
|
rs375786336 CA88595416 |
120 | L>V | No |
ClinGen ESP TOPMed |
|
|
rs1289852540 CA355269671 |
122 | T>A | No |
ClinGen TOPMed |
|
|
rs924067522 CA88595421 |
122 | T>S | No |
ClinGen gnomAD |
|
|
CA88595422 rs149046448 |
124 | D>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs769332924 CA2713680 |
125 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs769332924 CA2713679 |
125 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2713681 rs749826088 |
126 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2713683 rs774783016 |
128 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs144680708 CA88595451 |
128 | S>N | No |
ClinGen ESP |
|
|
CA2713685 rs767914957 |
129 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA88595455 COSM1041572 rs944925192 |
130 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA88595456 rs1041014106 |
132 | E>K | No |
ClinGen Ensembl |
|
|
rs775923082 CA2713686 |
133 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436360268 CA355270268 |
138 | K>R | No |
ClinGen gnomAD |
|
|
rs764288764 CA2713688 |
139 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA355270284 rs1248374273 |
140 | V>I | No |
ClinGen TOPMed |
|
|
rs900776388 CA88595476 |
145 | H>R | No |
ClinGen Ensembl |
|
|
rs558073198 CA2713690 |
146 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2713689 rs753926866 |
146 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1185768047 CA355270593 |
151 | P>Q | No |
ClinGen TOPMed |
|
|
rs1195332806 CA355270626 |
152 | N>I | No |
ClinGen gnomAD |
|
|
rs1007976558 CA88595511 |
153 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA355270686 rs1257760763 |
154 | E>D | No |
ClinGen TOPMed |
|
|
rs996402322 CA88595515 |
155 | E>V | No |
ClinGen TOPMed |
|
| TCGA novel | 157 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355272869 rs1364876781 |
161 | T>I | No |
ClinGen TOPMed |
|
|
CA2713718 rs778457580 |
162 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2713719 rs746414978 |
164 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA2713720 rs367898662 |
168 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA355273061 rs1260201894 |
169 | S>T | No |
ClinGen gnomAD |
|
|
CA88599747 rs975296336 |
170 | S>L | No |
ClinGen TOPMed |
|
| TCGA novel | 171 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355273127 rs1446801026 |
172 | S>A | No |
ClinGen gnomAD |
|
|
rs1194266657 CA355273139 |
173 | P>S | No |
ClinGen gnomAD |
|
|
COSM3392227 rs769125957 CA2713723 |
174 | Y>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1478634437 CA355273154 |
174 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs776784143 CA2713724 |
175 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1466057062 CA355273218 |
176 | K>M | No |
ClinGen gnomAD |
|
|
CA88599757 rs770000837 |
177 | Q>E | No |
ClinGen TOPMed |
|
|
rs1486190613 CA355273301 |
179 | P>S | No |
ClinGen TOPMed |
|
|
COSM1041576 rs773295364 CA2713727 |
181 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs141550831 CA2713729 |
182 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2713730 rs752502848 |
184 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA355273563 rs1279020297 |
187 | P>L | No |
ClinGen gnomAD |
|
|
rs1312872981 CA355273583 |
188 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1330890404 CA355273616 |
189 | S>F | No |
ClinGen TOPMed |
|
|
rs760524975 CA2713731 |
191 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1259495188 CA355273755 |
192 | A>V | No |
ClinGen gnomAD |
|
|
CA355273760 rs1350674163 |
193 | N>D | No |
ClinGen gnomAD |
|
|
CA2713732 rs145278369 |
193 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753476491 CA2713733 |
194 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA355273847 rs753476491 |
194 | N>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 195 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355273924 rs1576940664 |
196 | T>A | No |
ClinGen Ensembl |
|
|
rs756914382 CA355273936 |
196 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756914382 CA2713734 |
196 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355273955 rs928108680 |
197 | Q>P | No |
ClinGen Ensembl |
|
|
rs928108680 CA88599846 |
197 | Q>R | No |
ClinGen Ensembl |
|
|
rs1455743710 CA355274012 |
199 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs749878900 CA2713737 |
200 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA2713736 rs749878900 |
200 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs571186101 CA2713738 |
203 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355274282 rs1361544417 |
206 | P>A | No |
ClinGen gnomAD |
|
|
rs750082784 CA2713754 |
208 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA2713755 rs758044770 |
209 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA355275725 rs1296640638 |
210 | K>R | No |
ClinGen gnomAD |
|
|
rs765955791 CA2713756 |
212 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA355275769 rs1231791810 |
212 | A>V | No |
ClinGen TOPMed |
|
|
CA355275783 rs1298205608 |
213 | R>T | No |
ClinGen TOPMed |
|
|
CA355275837 rs1289725827 |
215 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs755492512 COSM166994 CA2713758 |
215 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA355275830 rs755492512 |
215 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150877602 CA355275870 |
217 | R>* | No |
ClinGen ESP gnomAD |
|
|
CA2713759 COSM301077 rs61760204 |
217 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1358204924 CA355275890 |
218 | E>A | No |
ClinGen TOPMed |
|
|
rs373424435 CA2713760 |
221 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756304406 CA2713761 |
224 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1223358367 CA355276108 |
225 | T>A | No |
ClinGen gnomAD |
|
|
CA355276164 rs1456941942 |
227 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1198654914 CA355276193 |
228 | S>C | No |
ClinGen gnomAD |
|
|
rs1181189950 CA355276247 |
230 | L>P | No |
ClinGen gnomAD |
|
|
rs545388409 CA88601440 |
233 | K>R | No |
ClinGen Ensembl |
|
|
CA355276642 rs1301840977 |
238 | S>T | No |
ClinGen gnomAD |
|
|
rs746974398 CA2713766 |
239 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA88601467 rs746974398 |
239 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761723223 CA2713769 |
240 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2713768 rs768568907 |
240 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs768568907 CA2713767 COSM1041580 |
240 | G>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs764933451 CA2713770 |
241 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773037853 CA2713771 |
241 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs762670304 CA2713772 |
242 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3724104 CA2713774 CA2713775 rs201476527 |
243 | G>R | Variant assessed as Somatic; 0.0 impact. upper_aerodigestive_tract breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2713776 rs768010948 |
244 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA88601493 rs768010948 |
244 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA2713778 rs200478981 |
245 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754110512 CA2713780 |
249 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA2713782 rs778998322 |
252 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1421076 rs144601583 CA2713784 |
258 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA355277710 rs1461986528 |
261 | G>R | No |
ClinGen TOPMed |
|
|
rs781255470 CA2713785 |
262 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369493333 COSM3392228 CA88601555 |
263 | I>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
rs770641364 CA2713790 |
267 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs762725261 CA2713789 |
267 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1429235537 CA355278086 |
268 | A>P | No |
ClinGen gnomAD |
|
|
CA2713816 rs762228129 |
269 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA355278140 rs1288717393 |
269 | D>H | No |
ClinGen gnomAD |
|
|
rs765553069 CA2713817 |
270 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 271 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1218445589 CA355282061 |
271 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1451317058 CA355282127 |
273 | F>L | No |
ClinGen gnomAD |
|
|
CA355282181 rs1222541085 |
274 | Q>P | No |
ClinGen gnomAD |
|
|
rs1248576748 CA355282233 |
275 | E>D | No |
ClinGen gnomAD |
|
|
CA2713818 rs750703166 |
277 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA355282417 rs1255426299 |
279 | V>A | No |
ClinGen TOPMed |
|
|
CA2713820 rs201368964 |
281 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777345958 CA88609699 |
282 | P>H | No |
ClinGen gnomAD |
|
|
rs147887335 CA2713821 |
283 | H>N | No |
ClinGen ESP ExAC |
|
|
CA355282564 rs1488181405 |
285 | A>P | No |
ClinGen TOPMed |
|
|
CA355282579 rs1488181405 |
285 | A>S | No |
ClinGen TOPMed |
|
|
rs1162142683 CA355282649 |
287 | H>Y | No |
ClinGen gnomAD |
|
|
CA2713822 rs200404045 |
289 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 290 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2713825 rs199612648 |
293 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2713826 rs201751513 |
295 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355283000 rs1373179803 |
298 | M>R | No |
ClinGen TOPMed |
|
|
CA88609738 rs866918609 |
299 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs368347151 CA2713827 |
300 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355284122 rs1327106144 |
301 | T>K | No |
ClinGen TOPMed |
|
|
rs1399587049 CA355284118 |
301 | T>S | No |
ClinGen TOPMed |
|
|
rs757214808 CA2713844 |
302 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1258855899 CA355284127 |
302 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1258855899 CA355284128 |
302 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1202363163 CA355284143 |
303 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA355284155 rs1456170227 |
304 | G>R | No |
ClinGen TOPMed |
|
|
rs75426377 CA2713845 |
305 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1190122058 CA355284186 |
306 | Q>R | No |
ClinGen gnomAD |
|
|
rs576659322 CA2713846 |
308 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2713847 rs758086478 |
309 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA355284307 rs1438576681 |
314 | V>I | No |
ClinGen TOPMed |
|
|
rs779637109 CA2713848 |
315 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779637109 CA355284336 |
315 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746629374 CA2713849 |
316 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2713851 rs776068277 |
317 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs776068277 CA2713852 |
317 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA2713850 rs768202041 |
317 | W>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 317 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1401333693 CA355284400 |
318 | E>G | No |
ClinGen gnomAD |
|
|
CA355284421 rs1396536614 |
319 | V>A | No |
ClinGen gnomAD |
|
|
CA88610930 rs1037144465 |
319 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 321 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2713853 rs770218396 |
322 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2713854 rs773640075 |
323 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355284504 rs200842164 |
324 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200842164 CA2713855 |
324 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1560062017 CA355284513 |
325 | T>A | No |
ClinGen Ensembl |
|
|
COSM1642183 rs143703894 CA2713856 |
325 | T>M | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1163231054 CA355284564 |
328 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1255476018 CA355284592 |
329 | P>S | No |
ClinGen gnomAD |
|
|
CA355284637 rs1488139107 |
330 | M>I | No |
ClinGen gnomAD |
|
|
CA88611010 rs767730201 |
330 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355284621 rs1284383481 |
330 | M>T | No |
ClinGen gnomAD |
|
|
CA2713859 rs767730201 |
330 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752787493 CA2713860 |
331 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA355284699 rs1331941012 |
332 | G>V | No |
ClinGen TOPMed |
|
|
CA2713862 rs200851300 |
336 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA355285003 rs564549721 |
343 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA355285015 rs1358426369 |
344 | S>G | No |
ClinGen gnomAD |
|
|
rs1418795350 CA355285208 |
349 | S>F | No |
ClinGen gnomAD |
|
|
rs1299048353 CA355285266 |
351 | M>T | No |
ClinGen gnomAD |
|
|
CA355285240 rs1405690475 |
351 | M>V | No |
ClinGen TOPMed |
|
|
rs1300725538 CA355285494 |
360 | F>Y | No |
ClinGen gnomAD |
|
|
rs1331731675 CA355285516 |
361 | Q>* | No |
ClinGen gnomAD |
|
|
rs1236095744 CA355285561 |
362 | R>T | No |
ClinGen gnomAD |
|
|
CA2713868 rs780683460 |
363 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA88611082 rs548301289 |
363 | A>V | No |
ClinGen TOPMed |
|
|
rs752341422 CA2713887 |
364 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs891601155 CA88617313 |
366 | G>V | No |
ClinGen Ensembl |
|
|
CA355287008 rs1457293874 |
368 | L>F | No |
ClinGen gnomAD |
|
|
rs1409915396 CA355287037 |
370 | R>S | No |
ClinGen gnomAD |
|
|
CA355287053 rs1421790429 |
371 | I>M | No |
ClinGen gnomAD |
|
|
rs1326450553 CA355287064 |
372 | F>S | No |
ClinGen TOPMed |
|
|
CA88617323 rs200580330 |
375 | S>L | No |
ClinGen TOPMed |
|
| TCGA novel | 378 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1459625673 CA355287136 |
380 | T>I | No |
ClinGen gnomAD |
|
|
rs777316884 CA2713889 |
380 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355287138 rs1168698827 |
381 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 381 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1328746869 CA355287165 |
384 | N>S | No |
ClinGen TOPMed |
|
|
CA355287176 rs1321781306 |
386 | Q>E | No |
ClinGen TOPMed |
|
|
CA2713890 rs749784549 |
386 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs199508428 CA2713891 |
387 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355287232 rs1188428458 |
392 | H>R | No |
ClinGen gnomAD |
|
|
rs1192305765 CA355287229 |
392 | H>Y | No |
ClinGen TOPMed |
|
|
rs1433165280 CA355287260 |
397 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA355287269 rs1210723314 |
398 | Q>R | No |
ClinGen TOPMed |
|
|
rs1363891700 CA355287292 |
400 | S>P | No |
ClinGen gnomAD |
|
|
rs780514159 CA2713920 |
402 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2713921 rs550386750 |
403 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2713922 rs375364459 |
403 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs868170397 CA88617746 |
404 | V>M | No |
ClinGen Ensembl |
|
|
CA355287390 rs1226729096 |
407 | E>D | No |
ClinGen TOPMed |
|
|
CA2713925 rs769858979 |
409 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs774312649 CA2713926 |
411 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA88617758 rs199512457 |
412 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199512457 CA2713927 |
412 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355287458 rs1301819053 |
413 | M>L | No |
ClinGen gnomAD |
|
| TCGA novel | 415 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767322963 CA355287525 |
417 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs767322963 CA2713928 |
417 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1214257383 CA355287534 |
418 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2713951 rs764867460 |
423 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749882548 CA2713952 |
424 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs928260904 CA88584670 |
425 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs766966080 CA2713954 |
426 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2713957 rs377063095 COSM1041594 |
427 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2713956 rs377063095 |
427 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2713958 rs368929380 |
427 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2713959 rs368929380 |
427 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2713960 rs777860527 |
431 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs777860527 CA2713961 |
431 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA88584739 rs921937165 |
431 | A>V | No |
ClinGen Ensembl |
|
|
rs770972925 CA2713962 |
435 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1316088674 CA355262587 |
435 | K>T | No |
ClinGen gnomAD |
|
|
CA88584744 rs916165113 |
436 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs932015338 CA88584745 |
436 | S>N | No |
ClinGen TOPMed |
|
|
CA2713964 rs746912058 |
437 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA2713966 rs776225594 |
438 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2713967 rs776225594 |
438 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355262633 rs776225594 |
438 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353033031 CA355262643 |
439 | E>* | No |
ClinGen TOPMed |
|
| TCGA novel | 442 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309245352 CA355262701 |
443 | N>K | No |
ClinGen TOPMed |
|
|
CA355262708 rs1472289744 |
444 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1369542432 CA355262714 |
444 | R>S | No |
ClinGen TOPMed |
|
|
rs1188163463 CA355262733 |
446 | Q>E | No |
ClinGen gnomAD |
|
|
rs1463544938 CA355262751 |
447 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs762594273 CA2713970 |
448 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1460817268 CA355262810 |
451 | F>L | No |
ClinGen TOPMed |
|
|
CA88584813 rs1049191701 |
451 | F>L | No |
ClinGen gnomAD |
|
|
CA2713972 rs752166947 |
454 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251966194 CA355262902 |
459 | V>A | No |
ClinGen gnomAD |
|
|
CA88584828 rs940897977 |
460 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs940897977 CA355262910 |
460 | E>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 460 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355263315 rs1454654920 |
461 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 462 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2713999 rs200090282 |
463 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2714000 COSM1421079 rs758485485 |
463 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs758485485 CA355263331 |
463 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2714002 rs748095258 |
464 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs748952411 CA2714005 |
465 | G>D | No |
ClinGen ExAC gnomAD |
|
|
COSM1041596 rs61750381 CA2714004 |
465 | G>S | Variant assessed as Somatic; 0.0 impact. urinary_tract endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2714007 rs773932621 |
466 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770449912 CA2714006 |
466 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA355263364 rs1489651748 |
469 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA355263379 rs1237912198 |
471 | D>G | No |
ClinGen gnomAD |
|
|
COSM1041598 CA2714009 rs771576924 |
471 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA88586479 rs867861663 |
474 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA2714010 rs776041755 |
474 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1352231884 CA355263403 |
475 | F>V | No |
ClinGen gnomAD |
|
|
CA355263421 rs1468900632 |
477 | V>A | No |
ClinGen gnomAD |
|
|
CA2714012 rs377643136 |
477 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 478 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776945311 CA2714013 |
478 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA355263435 rs1236168869 |
479 | E>G | No |
ClinGen gnomAD |
|
|
rs200761055 CA2714015 |
480 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200026200 CA2714016 |
480 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1206608309 CA355263451 |
482 | Q>* | No |
ClinGen TOPMed |
|
|
rs758476758 CA2714017 |
482 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 482 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2714019 rs530238022 COSM1270041 |
487 | R>Q | oesophagus Variant assessed as Somatic; 0.0002772 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2714018 rs145234029 |
487 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355263489 rs756049135 |
488 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2714020 rs756049135 |
488 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2714023 rs373942034 |
490 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2714024 rs778469036 |
490 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373942034 CA2714022 |
490 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2714027 rs779476611 |
492 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2714026 rs542083396 |
492 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355263518 rs1256014029 |
493 | E>* | No |
ClinGen gnomAD |
|
|
rs769106144 CA2714029 |
494 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs114235967 CA355263531 |
495 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114235967 CA2714030 |
495 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200979122 CA2714031 |
496 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252365634 CA355263538 |
496 | D>Y | No |
ClinGen gnomAD |
|
|
rs1560070541 CA355263549 |
497 | Y>C | No |
ClinGen Ensembl |
|
|
CA2714033 rs143824486 |
499 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770192832 CA2714032 |
499 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs763178108 CA2714035 |
500 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs763178108 CA2714034 |
500 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1576969287 CA355263674 |
504 | A>P | No |
ClinGen Ensembl |
|
|
rs751649364 CA2714036 |
504 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355263761 rs201920993 |
507 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2714037 rs201920993 COSM1421080 |
507 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA355264656 rs1174700205 |
516 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2714061 rs144016604 |
516 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144016604 CA2714062 |
516 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1174700205 CA355264657 |
516 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 518 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754542205 CA88588788 |
520 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2714064 rs754542205 |
520 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2714067 rs756604682 |
526 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1365482726 CA355264918 |
528 | R>G | No |
ClinGen gnomAD |
|
|
rs749718962 CA2714069 |
528 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs145621262 CA2714070 |
529 | R>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355264965 rs1240697540 |
529 | R>S | No |
ClinGen TOPMed |
|
|
CA355264967 rs1180163764 |
530 | P>T | No |
ClinGen TOPMed |
|
|
rs147308215 CA2714072 |
533 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1317731852 CA355265030 |
534 | L>S | No |
ClinGen gnomAD |
|
|
rs775568485 CA2714074 |
535 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2714075 rs139131420 |
536 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2714076 rs765271688 |
536 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355265066 rs1294671700 |
537 | A>D | No |
ClinGen TOPMed |
|
|
CA355265077 rs1194753316 |
538 | K>R | No |
ClinGen gnomAD |
|
|
rs1255320983 CA355265098 |
539 | I>M | No |
ClinGen gnomAD |
|
|
CA88588832 rs552350038 |
539 | I>T | No |
ClinGen 1000Genomes |
|
|
CA355265103 rs1010292010 |
540 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA88588834 rs1010292010 |
540 | P>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 541 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355265162 rs1358879643 |
543 | A>V | No |
ClinGen TOPMed |
|
|
CA88588838 rs866058974 |
547 | A>G | No |
ClinGen Ensembl |
|
| TCGA novel | 547 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs902732280 CA355265927 |
553 | N>K | No |
ClinGen TOPMed |
|
|
CA2714078 rs762804532 |
553 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs369543896 CA2714079 |
554 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1459852586 CA355265981 |
555 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1460888631 CA355265968 |
555 | D>H | No |
ClinGen gnomAD |
|
|
rs1459852586 CA355265985 |
555 | D>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 556 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355266311 rs1439831069 |
566 | S>F | No |
ClinGen gnomAD |
|
|
rs554239812 COSM208824 CA2714083 |
567 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA88594044 rs567649071 |
573 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2714105 rs552969967 |
573 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2714104 rs552969967 COSM1670720 |
573 | R>L | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA2714108 rs192477140 |
578 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1198123300 CA355268408 |
583 | V>M | No |
ClinGen gnomAD |
|
|
rs1415592856 CA355268422 |
584 | Q>K | No |
ClinGen gnomAD |
|
|
rs767694987 CA88594097 |
585 | I>L | No |
ClinGen Ensembl |
|
|
CA355268472 rs1560074716 |
586 | K>N | No |
ClinGen Ensembl |
|
| TCGA novel | 588 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1576977639 CA355268500 |
588 | F>V | No |
ClinGen Ensembl |
|
|
rs758662512 CA2714110 |
590 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355268536 rs758662512 |
590 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355268554 rs1324722830 |
591 | G>A | No |
ClinGen gnomAD |
|
|
CA2714111 rs377320828 |
594 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1271227108 CA355268624 |
596 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs868002345 CA88596060 |
603 | I>V | No |
ClinGen Ensembl |
|
|
CA355269295 rs1204107730 |
606 | P>L | No |
ClinGen gnomAD |
|
|
CA355269276 rs1416943181 |
606 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2714130 rs750965215 |
608 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229577759 CA355269383 |
610 | D>E | No |
ClinGen TOPMed |
|
|
rs758858013 CA2714131 |
610 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355269429 rs1364844432 |
612 | N>S | No |
ClinGen TOPMed |
|
|
CA2714132 rs780228003 |
613 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs993760590 CA88596091 |
613 | H>Y | No |
ClinGen Ensembl |
|
|
CA355269479 rs1195254101 |
614 | L>I | No |
ClinGen gnomAD |
|
|
rs751812054 COSM1041603 CA2714133 |
615 | R>* | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2714134 rs374433568 |
615 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs535073549 CA2714136 |
617 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs1333558391 | 619 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 622 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2714138 rs778887879 |
625 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1372193813 CA355269737 |
626 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2714139 rs745777932 |
629 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA88596144 rs143157721 |
629 | I>V | No |
ClinGen ESP |
|
|
CA355269840 rs1305298116 |
630 | S>G | No |
ClinGen gnomAD |
|
|
rs147444783 CA2714143 |
631 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768370311 CA2714144 |
631 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs147444783 CA2714142 |
631 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2714141 rs147444783 |
631 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2714148 rs764830720 |
632 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs763304833 CA2714150 |
632 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs763304833 CA2714149 |
632 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs764830720 CA2714147 |
632 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA355269897 rs764830720 |
632 | P>T | No |
ClinGen ExAC gnomAD |
|
| rs780272979 | 633 | I>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs780272979 | 633 | I>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755315725 CA2714153 |
633 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs767768294 CA2714154 |
637 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs370742776 CA2714155 |
639 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 640 | K>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1293287015 CA355271382 |
641 | D>V | No |
ClinGen gnomAD |
|
|
CA2714177 rs149947980 |
642 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2714178 rs779893407 |
642 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779893407 CA2714179 |
642 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781072057 CA2714181 |
645 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2714182 rs747837726 |
646 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355271780 rs1184843136 |
648 | I>T | No |
ClinGen gnomAD |
|
|
rs566223778 CA88598473 |
650 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs544927977 CA2714210 |
650 | P>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs566223778 CA2714184 |
650 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765268795 CA355274157 |
653 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762030072 CA2714212 |
653 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs957660658 CA88602476 |
654 | D>E | No |
ClinGen Ensembl |
|
|
CA355274175 rs1222229834 |
654 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2714214 rs750485320 |
656 | S>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763103576 CA2714215 |
659 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs569592022 CA2714216 |
661 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA355274475 rs1271895922 |
662 | A>T | No |
ClinGen gnomAD |
|
|
CA2714217 rs752679167 |
662 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA88602526 rs61733591 |
663 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1241698552 CA355274571 |
664 | M>L | No |
ClinGen TOPMed |
|
|
CA2714219 rs777565257 |
667 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA88602541 rs111274613 |
669 | E>G | No |
ClinGen Ensembl |
|
|
CA355274867 COSM1733675 rs1472599132 |
672 | R>C | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA2714222 rs200079140 |
672 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA355274875 rs200079140 |
672 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1321249122 CA355274917 |
674 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 675 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355274970 rs1297137672 |
676 | Y>H | No |
ClinGen TOPMed |
|
|
rs1382248133 CA355275033 |
678 | T>P | No |
ClinGen TOPMed |
|
|
rs148697387 CA2714223 |
680 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs868531077 CA88602574 |
681 | M>L | No |
ClinGen Ensembl |
|
|
CA355275128 rs1360900448 |
681 | M>T | No |
ClinGen TOPMed |
|
|
rs1440300568 CA355275146 |
682 | G>S | No |
ClinGen gnomAD |
|
|
CA2714225 COSM1231962 rs368763882 |
683 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1291475628 CA355275192 |
684 | E>K | No |
ClinGen gnomAD |
|
|
rs1291475628 CA355275193 |
684 | E>Q | No |
ClinGen gnomAD |
|
|
rs1001821804 CA88602601 |
688 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA355275339 rs1469745655 |
689 | W>* | No |
ClinGen TOPMed |
|
|
rs1234380411 CA355275396 |
691 | I>V | No |
ClinGen gnomAD |
|
|
rs1436364104 CA355275464 |
693 | H>N | No |
ClinGen gnomAD |
|
|
CA355275515 rs1376392450 |
694 | M>V | No |
ClinGen TOPMed |
|
|
CA355277707 rs1374937665 |
699 | F>L | No |
ClinGen gnomAD |
|
|
rs1431196308 CA355277661 |
699 | F>V | No |
ClinGen TOPMed |
|
|
rs1396734643 CA355277735 |
700 | A>V | No |
ClinGen gnomAD |
|
|
rs368608414 CA2714255 |
702 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2714256 rs373170651 |
702 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2714258 rs776397871 |
704 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA355277930 rs1371820979 |
705 | M>T | No |
ClinGen TOPMed |
|
|
rs1454617811 CA355277917 |
705 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2714259 rs761731273 |
706 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA355278059 rs750086352 |
708 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs765000694 CA2714260 |
708 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1443066246 CA355278171 |
710 | G>A | No |
ClinGen TOPMed |
|
|
CA2714262 rs758009109 |
710 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA88605417 rs765899201 |
711 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765899201 CA2714263 |
711 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1011561344 CA88605423 |
712 | A>P | No |
ClinGen TOPMed |
|
|
CA2714264 rs751132942 |
713 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355278304 rs754419828 |
714 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs754419828 CA2714265 |
714 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs781756932 CA2714266 |
716 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 716 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2714267 rs748591863 |
720 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1213751899 CA355278586 |
725 | D>G | No |
ClinGen TOPMed |
|
|
CA2714271 rs771227977 |
725 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 728 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355278734 rs1337436138 |
731 | E>A | No |
ClinGen TOPMed |
|
|
CA2714274 rs76353089 |
732 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2714275 rs565254549 |
733 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA88605504 rs879165620 |
734 | A>S | No |
ClinGen Ensembl |
|
|
CA88605514 rs769958157 |
738 | S>F | No |
ClinGen Ensembl |
|
|
CA88605520 rs924472417 |
741 | F>L | No |
ClinGen Ensembl |
|
|
CA355279013 rs1439250761 |
744 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs764498152 CA2714278 |
751 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2714279 rs184549998 |
751 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1384775048 CA355279169 |
753 | T>A | No |
ClinGen gnomAD |
|
|
CA2714280 rs536756080 |
753 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 753 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs560800225 CA2714300 |
754 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs560800225 CA88606722 |
754 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764824180 CA88606752 |
756 | N>K | No |
ClinGen Ensembl |
|
|
rs199954201 CA2714301 |
759 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769775082 CA2714302 |
762 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2714303 rs773106653 |
762 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA355280694 rs1486425361 |
763 | W>* | No |
ClinGen TOPMed |
|
|
CA88606791 rs201209313 |
766 | S>C | No |
ClinGen 1000Genomes |
|
| TCGA novel | 766 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2714306 rs774068322 |
767 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770619599 CA2714305 |
767 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA355280876 rs759046071 |
768 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2714307 rs759046071 |
768 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355280926 rs1269635217 |
770 | F>L | No |
ClinGen TOPMed |
|
|
CA355281048 rs1311995652 |
773 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1412874570 CA355281028 |
773 | D>Y | No |
ClinGen gnomAD |
|
|
rs1050804428 CA88606809 COSM1041609 |
774 | S>G | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1377477413 CA355281061 |
774 | S>T | No |
ClinGen TOPMed |
|
|
CA2714309 rs752204669 |
781 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2714310 rs760239661 |
782 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2714311 rs764738460 |
783 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754387935 CA2714312 |
784 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs889558852 CA88606849 |
785 | N>S | No |
ClinGen Ensembl |
|
|
CA355281556 rs1410415540 |
787 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 791 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2714315 rs750660005 |
792 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA355281873 rs1418205382 |
794 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 794 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 794 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355281889 rs1560079894 |
795 | E>A | No |
ClinGen Ensembl |
|
|
rs146739336 CA88606899 |
795 | E>K | No |
ClinGen ESP |
|
| TCGA novel | 800 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355282310 rs1190851637 |
804 | G>A | No |
ClinGen TOPMed |
|
|
rs1190851637 CA355282303 |
804 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 805 | T>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286984735 CA355286628 |
805 | T>I | No |
ClinGen gnomAD |
|
|
rs765662685 CA2714332 |
807 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA355286656 rs1299505233 |
809 | F>L | No |
ClinGen gnomAD |
|
|
rs750805572 CA2714333 |
810 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs758761991 CA2714334 |
814 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2714335 rs766581113 |
816 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA355286735 rs1364948440 |
817 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA355286744 rs1560086261 |
818 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 821 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2714337 rs755064372 |
823 | H>R | No |
ClinGen ExAC |
|
| TCGA novel | 823 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 826 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355286866 rs1560086281 |
827 | H>Y | No |
ClinGen Ensembl |
|
|
CA2714338 rs781182778 |
828 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs749256817 CA2714339 |
829 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2714340 rs140288498 |
833 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs751788760 CA2714354 |
835 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs187540816 CA2714355 |
837 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA355287929 rs1335198304 |
840 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1263610505 CA355287971 |
843 | C>F | No |
ClinGen gnomAD |
|
|
rs1263610505 CA355287968 |
843 | C>Y | No |
ClinGen gnomAD |
|
|
CA355288010 rs1411516186 |
846 | E>G | No |
ClinGen gnomAD |
|
|
CA88622609 rs891953782 |
847 | R>K | No |
ClinGen TOPMed |
|
|
CA355288033 rs1211653018 |
848 | P>S | No |
ClinGen TOPMed |
|
|
rs752765597 CA2714357 |
849 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2714358 rs756185305 |
851 | D>G | No |
ClinGen ExAC TOPMed |
|
|
rs144044913 CA2714361 |
855 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA88622621 rs202177426 |
855 | M>T | No |
ClinGen 1000Genomes |
|
|
rs199943847 CA2714360 |
855 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1307529501 CA355288093 |
856 | Y>C | No |
ClinGen gnomAD |
|
|
rs779927136 CA2714362 |
859 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746689506 CA2714363 |
859 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2714364 rs746689506 |
859 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355288120 rs1419093860 |
860 | R>M | No |
ClinGen gnomAD |
|
|
CA355288127 rs1229294178 |
861 | I>T | No |
ClinGen gnomAD |
|
|
rs1323170286 CA355288133 |
862 | P>L | No |
ClinGen gnomAD |
|
|
CA2714368 CA355288142 rs747680794 |
863 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q92995
8 regional properties for Q92995
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Peptidase C19, ubiquitin carboxyl-terminal hydrolase | 336 - 858 | IPR001394 |
| domain | Zinc finger, UBP-type | 187 - 295 | IPR001607 |
| domain | Ubiquitin-associated domain | 652 - 693 | IPR015940-1 |
| domain | Ubiquitin-associated domain | 727 - 767 | IPR015940-2 |
| conserved_site | Ubiquitin specific protease, conserved site | 337 - 352 | IPR018200-1 |
| conserved_site | Ubiquitin specific protease, conserved site | 806 - 824 | IPR018200-2 |
| domain | Ubiquitin specific protease domain | 336 - 861 | IPR028889 |
| domain | Ubiquitinyl hydrolase, variant UBP zinc finger | 35 - 97 | IPR041432 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.4.19.12 | Omega peptidases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| BAT3 complex binding | Binding to a BAT3 complex. |
| chaperone binding | Binding to a chaperone protein, a class of proteins that bind to nascent or unfolded polypeptides and ensure correct folding or transport. |
| cysteine-type deubiquitinase activity | An thiol-dependent isopeptidase activity that cleaves ubiquitin from a target protein to which it is conjugated. |
| cysteine-type endopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile. |
| Lys48-specific deubiquitinase activity | Hydrolysis of Lys48-linked ubiquitin unit(s) from a ubiquitinated protein. |
| proteasome binding | Binding to a proteasome, a large multisubunit protein complex that catalyzes protein degradation. |
| ubiquitin binding | Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
| ubiquitin-like protein ligase binding | Binding to a ubiquitin-like protein ligase, such as ubiquitin-ligase. |
| zinc ion binding | Binding to a zinc ion (Zn). |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| autophagy | The cellular catabolic process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation. |
| cell population proliferation | The multiplication or reproduction of cells, resulting in the expansion of a cell population. |
| maintenance of unfolded protein involved in ERAD pathway | Maintaining an endoplasmic reticulum (ER) protein in an unfolded, soluble state that contributes to its degradation by the cytoplasmic proteasome. Maintaining ER-resident proteins in an unfolded yet soluble state condition after their retro-translocation favors their turnover by the cytosolic proteasome. |
| melanocyte differentiation | The process in which a relatively unspecialized cell acquires specialized features of a melanocyte. |
| positive regulation of ERAD pathway | Any process that activates or increases the frequency, rate or extent of ERAD pathway. |
| protein deubiquitination | The removal of one or more ubiquitin groups from a protein. |
| protein K29-linked deubiquitination | A protein deubiquitination process in which a K29-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 29 of the ubiquitin monomers, is removed from a protein. |
| protein K6-linked deubiquitination | A protein deubiquitination process in which a K6-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 6 of the ubiquitin monomers, is removed from a protein. |
| protein K63-linked deubiquitination | A protein deubiquitination process in which a K63-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 63 of the ubiquitin monomers, is removed from a protein. |
| protein stabilization | Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation. |
| regulation of autophagy | Any process that modulates the frequency, rate or extent of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| ubiquitin-dependent protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin group, or multiple ubiquitin groups, to the protein. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9UHP3 | USP25 | Ubiquitin carboxyl-terminal hydrolase 25 | Homo sapiens (Human) | EV |
| Q93009 | USP7 | Ubiquitin carboxyl-terminal hydrolase 7 | Homo sapiens (Human) | PR |
| Q96K76 | USP47 | Ubiquitin carboxyl-terminal hydrolase 47 | Homo sapiens (Human) | PR |
| P45974 | USP5 | Ubiquitin carboxyl-terminal hydrolase 5 | Homo sapiens (Human) | PR |
| P56399 | Usp5 | Ubiquitin carboxyl-terminal hydrolase 5 | Mus musculus (Mouse) | PR |
| F6V6I0 | usp13 | Ubiquitin carboxyl-terminal hydrolase 13 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQRRGALFGM | PGGSGGRKMA | AGDIGELLVP | HMPTIRVPRS | GDRVYKNECA | FSYDSPNSEG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GLYVCMNTFL | AFGREHVERH | FRKTGQSVYM | HLKRHVREKV | RGASGGALPK | RRNSKIFLDL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DTDDDLNSDD | YEYEDEAKLV | IFPDHYEIAL | PNIEELPALV | TIACDAVLSS | KSPYRKQDPD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TWENELPVSK | YANNLTQLDN | GVRIPPSGWK | CARCDLRENL | WLNLTDGSVL | CGKWFFDSSG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GNGHALEHYR | DMGYPLAVKL | GTITPDGADV | YSFQEEEPVL | DPHLAKHLAH | FGIDMLHMHG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TENGLQDNDI | KLRVSEWEVI | QESGTKLKPM | YGPGYTGLKN | LGNSCYLSSV | MQAIFSIPEF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QRAYVGNLPR | IFDYSPLDPT | QDFNTQMTKL | GHGLLSGQYS | KPPVKSELIE | QVMKEEHKPQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QNGISPRMFK | AFVSKSHPEF | SSNRQQDAQE | FFLHLVNLVE | RNRIGSENPS | DVFRFLVEER |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IQCCQTRKVR | YTERVDYLMQ | LPVAMEAATN | KDELIAYELT | RREAEANRRP | LPELVRAKIP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FSACLQAFSE | PENVDDFWSS | ALQAKSAGVK | TSRFASFPEY | LVVQIKKFTF | GLDWVPKKFD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VSIDMPDLLD | INHLRARGLQ | PGEEELPDIS | PPIVIPDDSK | DRLMNQLIDP | SDIDESSVMQ |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LAEMGFPLEA | CRKAVYFTGN | MGAEVAFNWI | IVHMEEPDFA | EPLTMPGYGG | AASAGASVFG |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ASGLDNQPPE | EIVAIITSMG | FQRNQAIQAL | RATNNNLERA | LDWIFSHPEF | EEDSDFVIEM |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ENNANANIIS | EAKPEGPRVK | DGSGTYELFA | FISHMGTSTM | SGHYICHIKK | EGRWVIYNDH |
| 850 | 860 | ||||
| KVCASERPPK | DLGYMYFYRR | IPS |