Q86Y13
PR
Gene name |
DZIP3 (KIAA0675) |
Protein name |
E3 ubiquitin-protein ligase DZIP3 |
Names |
DAZ-interacting protein 3, RING-type E3 ubiquitin transferase DZIP3, RNA-binding ubiquitin ligase of 138 kDa, hRUL138 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9666 |
EC number |
2.3.2.27: Aminoacyltransferases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q86Y13
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q86Y13-F1 | Predicted | AlphaFoldDB |
945 variants for Q86Y13
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs61734868 CA2530035 |
3 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA80689575 rs773649006 |
5 | P>L | No |
ClinGen Ensembl |
|
|
CA353941700 rs141296851 |
6 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2530036 RCV000975003 rs141296851 |
6 | D>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs777221116 CA353941708 COSM1177203 |
7 | E>* | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2530038 rs746539421 |
7 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs777221116 CA2530037 |
7 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2530039 rs756837978 |
8 | F>L | No |
ClinGen ExAC gnomAD |
|
| rs904107661 | 10 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353941747 rs1265868686 |
10 | V>M | No |
ClinGen TOPMed |
|
|
rs750002191 CA353941926 |
13 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA353941932 rs1442052712 |
13 | P>R | No |
ClinGen TOPMed |
|
|
rs750002191 CA2530059 |
13 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs779654442 CA2530061 |
15 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs755812365 CA353941944 |
15 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs755812365 CA2530060 |
15 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA80690562 rs981756070 |
16 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs749113211 CA2530062 |
17 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1241939537 CA353941972 |
18 | Q>E | No |
ClinGen gnomAD |
|
|
rs972219371 CA80690573 |
19 | R>K | No |
ClinGen Ensembl |
|
|
rs779048494 CA2530064 |
20 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1249251718 CA353942021 |
21 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 22 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747059774 CA2530065 |
23 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2530066 rs771172559 |
24 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1036076004 CA80690595 |
26 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2530068 rs759631258 |
28 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs36069831 CA2530070 |
31 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA353942204 rs1177597847 |
32 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 34 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs191742503 CA353942601 |
38 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs191742503 CA2530094 |
38 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353942609 rs1208483670 |
39 | N>D | No |
ClinGen gnomAD |
|
|
COSM1250878 rs763283727 CA2530095 |
39 | N>S | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2530097 rs146584369 |
40 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2530096 rs769051021 |
40 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2530098 rs762248619 |
41 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 42 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2530099 rs545057898 |
43 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353942662 rs1427534313 |
47 | P>R | No |
ClinGen gnomAD |
|
|
rs760286325 CA2530101 |
48 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 49 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458720578 CA353942681 |
50 | L>R | No |
ClinGen gnomAD |
|
|
CA353942700 rs1280916927 |
53 | E>D | No |
ClinGen TOPMed |
|
|
CA353942698 rs1343176362 |
53 | E>V | No |
ClinGen TOPMed |
|
|
CA2530106 rs752556548 |
54 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA353942702 rs1442553215 |
54 | V>M | No |
ClinGen TOPMed |
|
|
rs758206507 CA2530107 |
57 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs1365082115 CA353942739 |
59 | N>I | No |
ClinGen gnomAD |
|
|
rs1300986121 CA353942779 |
65 | P>Q | No |
ClinGen gnomAD |
|
|
CA2530109 rs745923043 |
67 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA80692116 rs745923043 |
67 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1266854136 CA353942809 |
68 | V>M | No |
ClinGen gnomAD |
|
|
rs1559724946 CA353942820 |
69 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 70 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353942863 rs1415980996 |
72 | I>F | No |
ClinGen TOPMed |
|
|
CA353942875 rs1328493598 |
73 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA80692132 rs150143242 |
77 | Q>E | No |
ClinGen ESP TOPMed |
|
|
rs780109183 CA2530111 |
81 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353943058 rs1487644929 |
82 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA353943075 rs1190870448 |
83 | Q>E | No |
ClinGen gnomAD |
|
|
rs1266525361 CA353943770 |
87 | R>S | No |
ClinGen TOPMed |
|
|
rs1369285490 CA353943771 |
88 | E>K | No |
ClinGen Ensembl |
|
|
CA353943789 rs1168764475 |
90 | A>G | No |
ClinGen gnomAD |
|
|
CA353943792 rs1356460861 |
91 | A>S | No |
ClinGen TOPMed |
|
|
rs759351599 CA2530130 |
93 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1576363820 CA353943807 |
93 | S>N | No |
ClinGen Ensembl |
|
|
CA2530131 rs755188825 |
95 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 96 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748434749 CA2530133 |
99 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772522908 CA2530134 |
101 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 102 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2530135 rs773478113 |
102 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2530136 rs747499362 |
105 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs143969766 CA2530137 |
106 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2530138 rs543968481 |
106 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353943953 rs543968481 |
106 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353943972 rs1442850549 |
108 | L>S | No |
ClinGen gnomAD |
|
|
CA353944019 rs1462710274 |
111 | Q>H | No |
ClinGen TOPMed |
|
|
CA2530140 rs373181033 |
114 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1576363948 CA353944052 |
115 | A>T | No |
ClinGen Ensembl |
|
|
CA80695809 rs950555928 |
119 | I>V | No |
ClinGen TOPMed |
|
|
CA2530141 rs775332144 |
120 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs984701709 CA80695816 |
122 | G>D | No |
ClinGen TOPMed |
|
|
rs1391586558 CA353944155 |
124 | Y>H | No |
ClinGen gnomAD |
|
|
CA2530159 rs202179235 |
126 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA80701435 rs184868092 |
126 | A>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1469720678 CA353945387 |
127 | H>D | No |
ClinGen gnomAD |
|
|
CA2530160 rs547815580 |
127 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 128 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353945403 rs1269671498 |
128 | Q>K | No |
ClinGen gnomAD |
|
|
rs1445381608 CA353945450 |
131 | I>M | No |
ClinGen gnomAD |
|
|
rs1252915601 CA353945447 |
131 | I>T | No |
ClinGen TOPMed |
|
|
CA2530162 rs775174364 |
132 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2530163 rs369866805 |
132 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353945462 rs1331926224 |
133 | Y>H | No |
ClinGen gnomAD |
|
|
CA353945498 rs78132162 CA80701452 |
135 | L>F | No |
ClinGen TOPMed |
|
|
CA80701474 rs904207346 |
139 | F>L | No |
ClinGen TOPMed |
|
|
CA2530167 rs147007758 |
141 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA353945561 rs1274788144 |
141 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 148 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1410105701 CA353945615 |
148 | R>G | No |
ClinGen TOPMed |
|
|
CA2530170 rs775821630 |
148 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2530171 rs529995975 |
149 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs181576494 CA2530172 |
150 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777925110 CA2530173 |
150 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1181776524 CA353945704 |
153 | D>N | No |
ClinGen gnomAD |
|
|
CA80702438 rs945353587 |
153 | D>V | No |
ClinGen Ensembl |
|
|
rs1042859179 CA80702451 |
154 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2530194 rs767947333 |
156 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA80702465 rs902644759 |
157 | A>D | No |
ClinGen TOPMed |
|
|
rs763834600 CA2530196 |
158 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763834600 CA2530195 |
158 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2530197 rs780480096 |
159 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1309651454 CA353945805 |
161 | F>L | No |
ClinGen gnomAD |
|
|
rs1363786490 CA353945816 |
162 | L>V | No |
ClinGen Ensembl |
|
|
CA2530199 rs372562837 |
164 | M>I | No |
ClinGen ESP ExAC TOPMed |
|
|
rs778516697 CA2530200 |
166 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1341672796 CA353945891 |
167 | M>V | No |
ClinGen gnomAD |
|
|
CA80702492 rs140722866 |
168 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353945914 rs1242004597 |
168 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM3845762 CA353945922 rs1342472171 |
169 | Q>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA353945934 rs1208813913 |
170 | E>K | No |
ClinGen TOPMed |
|
|
COSM1291571 CA353945956 rs1206903207 |
171 | N>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1479895651 CA353945978 |
172 | E>D | No |
ClinGen gnomAD |
|
|
rs1281724752 CA353945964 |
172 | E>K | No |
ClinGen TOPMed |
|
|
rs771724884 CA2530202 |
173 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1032773542 CA80702514 |
174 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1425573332 CA353945996 |
174 | C>S | No |
ClinGen gnomAD |
|
|
CA80702505 rs1032773542 |
174 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1181845133 CA353946017 |
176 | N>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 177 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 177 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746874760 CA2530205 |
178 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA2530204 rs772922853 |
178 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA2530207 rs770889997 |
179 | S>C | No |
ClinGen ExAC TOPMed |
|
|
rs1371127560 CA353946049 |
180 | L>V | No |
ClinGen gnomAD |
|
|
CA2530208 rs200570537 |
181 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 181 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199621537 CA2530209 |
185 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2530210 rs137935085 |
185 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs137935085 CA353946084 |
185 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199621537 CA80702561 |
185 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762071889 CA2530212 |
186 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs200352700 CA2530211 |
186 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 187 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353946103 rs767859352 |
189 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2530213 rs767859352 |
189 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2530214 rs750802024 |
190 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA2530215 rs750802024 |
190 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs766874285 CA2530216 |
190 | C>Y | No |
ClinGen ExAC |
|
|
CA2530218 rs755530822 |
193 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs74773158 CA80658408 COSM1752782 |
194 | R>S | urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA2530236 rs759892701 |
195 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1576382551 CA353931028 |
198 | G>R | No |
ClinGen Ensembl |
|
|
rs1485650017 CA353931037 |
199 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA353931035 rs1559739477 |
199 | L>V | No |
ClinGen Ensembl |
|
|
rs1192047460 CA353931042 |
200 | L>P | No |
ClinGen gnomAD |
|
|
rs1269188429 CA353931065 |
203 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs765838095 CA2530237 |
204 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs752192115 CA2530238 |
205 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA2530240 rs777374603 |
206 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs576981364 CA2530241 |
207 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA80658437 rs562757312 |
207 | Q>R | No |
ClinGen Ensembl |
|
|
rs756961133 CA2530242 |
209 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs780796653 CA2530243 CA353931108 |
210 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2530244 rs138328967 |
210 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780187007 CA2530246 |
214 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769616803 CA2530245 |
214 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs772233631 CA2530248 |
218 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771186668 CA2530251 |
219 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1576382715 CA353931207 |
219 | I>T | No |
ClinGen Ensembl |
|
|
CA2530250 rs149230651 |
219 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA80658508 rs760006018 |
220 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2530252 rs776854007 |
220 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA353931228 rs1403269360 |
221 | P>H | No |
ClinGen TOPMed |
|
|
CA80658510 rs929513791 |
221 | P>S | No |
ClinGen TOPMed |
|
|
rs765712689 CA2530254 |
222 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA353931240 rs1252393447 |
222 | T>I | No |
ClinGen gnomAD |
|
|
CA80658517 rs368033775 |
223 | E>K | No |
ClinGen ESP |
|
|
rs1473514004 CA353931257 |
224 | D>H | No |
ClinGen gnomAD |
|
|
rs1464939008 CA353931306 |
228 | P>R | No |
ClinGen TOPMed |
|
|
rs763483199 CA2530256 |
229 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs763550402 CA2530257 |
230 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763550402 CA80658536 |
230 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166402018 CA353931346 |
232 | K>Q | No |
ClinGen gnomAD |
|
|
CA2530271 rs147130794 |
234 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2530272 rs140410300 |
234 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA80661020 rs147130794 |
234 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2530273 rs776961474 |
235 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA353932020 rs1312227409 |
236 | N>D | No |
ClinGen gnomAD |
|
|
CA2530274 rs141177400 |
236 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353932021 rs1312227409 |
236 | N>Y | No |
ClinGen gnomAD |
|
|
rs150678718 CA2530275 |
239 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1412006881 CA353932043 |
239 | I>V | No |
ClinGen gnomAD |
|
|
rs1559742947 CA353932048 |
240 | K>Q | No |
ClinGen Ensembl |
|
|
CA2530278 rs764593127 |
244 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2530279 rs773731849 |
245 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs761447316 CA2530280 |
246 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA353932092 rs1161224872 |
246 | I>V | No |
ClinGen TOPMed |
|
|
CA2530281 rs149860309 |
250 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1212614099 CA353932130 |
251 | I>T | No |
ClinGen gnomAD |
|
|
rs755848845 CA2530283 |
252 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA353932136 rs755848845 |
252 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs766215457 CA2530284 |
254 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353932151 rs766215457 |
254 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205538472 CA353932156 |
255 | L>V | No |
ClinGen gnomAD |
|
|
rs753689392 CA2530285 |
256 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353932171 rs754959331 |
257 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2530286 rs754959331 |
257 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353932183 rs1188729389 |
259 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA80661105 rs201597941 |
259 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2530287 rs201597941 |
259 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA80661112 rs980606928 |
260 | S>P | No |
ClinGen gnomAD |
|
|
CA2530288 rs747038713 |
261 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA353932210 rs1482451688 |
263 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 263 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3940186 rs146872614 CA2530289 |
264 | D>N | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1179282160 CA353932219 |
265 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2530290 rs571542817 |
266 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1452009622 CA353932237 |
267 | K>N | No |
ClinGen gnomAD |
|
|
rs533812262 CA2530291 |
268 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139745617 CA2530292 |
271 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1294288439 CA353932489 |
276 | Q>* | No |
ClinGen Ensembl |
|
|
rs1204182252 CA353932491 |
276 | Q>R | No |
ClinGen gnomAD |
|
| rs901358284 | 276 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2530321 rs201059924 |
278 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353932506 rs1290151292 |
278 | M>T | No |
ClinGen gnomAD |
|
|
rs1053571023 CA80662401 |
280 | S>T | No |
ClinGen Ensembl |
|
|
CA353932529 rs1225228543 |
281 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2530322 rs200630414 |
282 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2530324 rs770684021 |
291 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA353932613 rs1391757181 |
292 | W>L | No |
ClinGen gnomAD |
|
|
rs1158157208 CA353932609 |
292 | W>R | No |
ClinGen gnomAD |
|
|
CA353932618 rs1426271135 |
293 | K>E | No |
ClinGen gnomAD |
|
|
CA2530326 rs759295036 |
295 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1391719670 CA353932649 COSM1036087 |
296 | K>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs765032663 CA2530327 |
297 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2530329 rs559858099 |
300 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2530330 rs764009233 |
301 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs750490628 CA2530331 |
301 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756237849 CA2530332 |
303 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA80662467 rs780136415 |
305 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780136415 CA2530333 |
305 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353932804 rs1290028263 |
305 | D>N | No |
ClinGen gnomAD |
|
|
CA2530334 rs151046961 |
306 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755164983 CA2530335 |
306 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA353933117 rs1347970558 |
307 | S>N | No |
ClinGen gnomAD |
|
|
rs749082556 CA2530369 |
308 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282711984 CA353933162 |
309 | S>C | No |
ClinGen gnomAD |
|
|
CA353933168 rs1395199856 |
309 | S>T | No |
ClinGen gnomAD |
|
|
CA2530371 rs774141141 |
310 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 312 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 315 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767506776 CA2530374 |
316 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs369789375 CA80663591 |
316 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1559746882 CA353933379 |
318 | C>F | No |
ClinGen Ensembl |
|
|
rs759582120 CA2530376 |
320 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA353933398 rs1349178205 |
320 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 323 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA80663628 rs997496025 |
324 | R>K | No |
ClinGen Ensembl |
|
|
rs1408061260 CA353933522 |
327 | Q>K | No |
ClinGen gnomAD |
|
|
rs1033460993 CA80663632 |
329 | D>E | No |
ClinGen TOPMed |
|
|
rs752822415 CA2530378 |
332 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA353933612 rs1162632787 |
334 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 335 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1026405708 CA80663650 |
335 | K>R | No |
ClinGen Ensembl |
|
|
CA2530404 rs760697678 |
341 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765181140 CA2530405 |
344 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs765181140 CA353933861 |
344 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA80664204 rs1037807715 |
345 | E>K | No |
ClinGen Ensembl |
|
|
CA80664211 rs867211100 |
346 | Y>H | No |
ClinGen Ensembl |
|
|
CA80664216 rs895181961 |
348 | T>N | No |
ClinGen TOPMed |
|
|
rs751961765 CA80664235 |
349 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751961765 CA2530409 |
349 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 353 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2530410 rs762319244 |
353 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs762319244 CA353934026 |
353 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA2530429 rs200995881 |
356 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1576404519 CA353934512 |
356 | Y>N | No |
ClinGen Ensembl |
|
|
CA2530431 rs763185139 |
357 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 358 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868378857 CA80667494 |
359 | L>F | No |
ClinGen Ensembl |
|
|
CA80667496 rs1025281635 |
360 | I>T | No |
ClinGen TOPMed |
|
|
CA2530432 rs768980959 |
360 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1026349645 CA353934667 |
361 | S>P | No |
ClinGen gnomAD |
|
|
CA80667503 rs1026349645 |
361 | S>T | No |
ClinGen gnomAD |
|
|
rs1346686146 CA545104325 |
366 | D>* | No |
ClinGen gnomAD |
|
|
CA353934861 rs1277444163 |
367 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 367 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374960086 CA2530434 |
368 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2530435 rs200608105 |
369 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1280797268 CA353934919 |
369 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM445272 CA353934981 rs867437951 |
371 | P>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA80667524 rs867437951 |
371 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs750801116 CA353935016 CA2530436 |
372 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222564218 CA353935028 |
373 | I>T | No |
ClinGen TOPMed |
|
|
CA353935038 rs1449046527 |
374 | S>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 376 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758033535 CA80667535 |
377 | F>C | No |
ClinGen Ensembl |
|
|
rs1262967427 CA353935168 |
377 | F>L | No |
ClinGen gnomAD |
|
|
CA2530437 rs761077936 |
378 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1202297861 CA353935204 |
378 | N>T | No |
ClinGen gnomAD |
|
|
rs756014923 CA80668702 |
381 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2530448 rs781241627 |
382 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1323202468 CA353936074 |
385 | I>V | No |
ClinGen gnomAD |
|
|
CA2530450 rs749349996 |
389 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768821274 CA2530451 |
390 | Y>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 391 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 393 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 393 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs960954872 CA80668739 |
394 | Y>C | No |
ClinGen TOPMed |
|
|
rs1389959270 CA353936269 |
394 | Y>H | No |
ClinGen gnomAD |
|
|
rs774598055 CA2530452 |
395 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs762057179 CA2530453 COSM1536027 |
395 | H>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA353936333 rs1445575181 |
397 | L>F | No |
ClinGen gnomAD |
|
|
rs773433267 CA2530455 |
399 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2530456 rs761146965 |
401 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA353936440 rs1248667076 |
402 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM1204846 rs766763285 CA2530457 |
405 | T>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs777080398 CA2530458 |
409 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777080398 CA353936513 |
409 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1670407 CA2530459 rs377325943 |
409 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201610955 CA2530461 |
412 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201610955 CA2530460 |
412 | F>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373941411 CA2530462 |
413 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA353936541 rs1446184605 |
413 | D>V | No |
ClinGen gnomAD |
|
|
CA2530463 rs763867298 |
416 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs751292452 CA2530464 |
418 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA80668839 rs950253979 |
419 | P>L | No |
ClinGen Ensembl |
|
|
CA80668843 rs1046313497 |
420 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA2530465 rs200179052 |
420 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745754648 CA2530468 |
422 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA80668868 rs924929100 |
427 | I>V | No |
ClinGen Ensembl |
|
|
rs779126579 CA2530470 |
429 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1450075545 CA353936736 |
430 | N>I | No |
ClinGen gnomAD |
|
|
rs1450075545 CA353936741 |
430 | N>S | No |
ClinGen gnomAD |
|
|
CA2530471 rs748292207 |
431 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs772158936 CA2530472 |
433 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228711313 CA353936868 |
438 | H>D | No |
ClinGen gnomAD |
|
|
rs934885384 CA80668907 |
438 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA353936875 rs934885384 |
438 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1054683191 CA80668913 |
440 | W>R | No |
ClinGen gnomAD |
|
|
rs549431216 CA2530474 |
442 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2530475 rs771276390 |
443 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs200314252 CA2530476 |
446 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1255209930 CA353937021 |
447 | G>* | No |
ClinGen gnomAD |
|
|
rs1559752763 CA353937026 |
447 | G>V | No |
ClinGen Ensembl |
|
|
CA2530478 rs765800447 |
449 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs551129126 CA80668939 |
449 | W>R | No |
ClinGen Ensembl |
|
|
CA353937070 rs1195168235 |
450 | H>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 451 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2530479 rs774968379 |
451 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2530481 rs763626449 |
453 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs377552675 CA2530482 COSM1693124 |
454 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 457 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756886454 CA2530483 |
458 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1283940804 CA353937186 |
458 | E>Q | No |
ClinGen TOPMed |
|
|
COSM3783641 rs767368068 CA2530484 |
460 | P>L | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs780187127 CA2530487 |
461 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1298312864 CA353937239 |
461 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA353937241 rs1298312864 |
461 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2530488 rs748206067 |
462 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2530489 rs758462965 |
463 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs199974387 CA80668991 |
464 | Q>H | No |
ClinGen Ensembl |
|
|
CA353937323 rs1399909623 |
467 | L>V | No |
ClinGen TOPMed |
|
|
CA353937347 rs1325834059 |
468 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2530492 rs747195524 |
472 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA2530491 rs747195524 |
472 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1039124228 CA80669035 |
474 | I>T | No |
ClinGen TOPMed |
|
|
CA2530493 rs776976113 |
476 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1439928212 CA353937564 |
479 | V>L | No |
ClinGen Ensembl |
|
|
CA353937585 rs1200138916 |
480 | F>L | No |
ClinGen gnomAD |
|
|
CA353937632 rs1430959994 |
482 | A>V | No |
ClinGen gnomAD |
|
|
rs950785094 CA80669054 |
483 | P>L | No |
ClinGen TOPMed |
|
|
CA353937650 rs1162441127 |
484 | K>R | No |
ClinGen TOPMed |
|
|
rs1471727830 CA353937683 |
486 | G>V | No |
ClinGen TOPMed |
|
|
rs763403071 CA2530498 |
489 | M>T | No |
ClinGen ExAC |
|
|
CA353937742 rs768166412 |
490 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1576407913 CA353937748 |
490 | E>D | No |
ClinGen Ensembl |
|
|
CA2530499 rs768166412 |
490 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA2530500 COSM1036090 rs773750250 |
491 | P>L | endometrium Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2530502 rs201852715 |
492 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA353937784 rs1399929938 |
495 | D>E | No |
ClinGen gnomAD |
|
|
rs767333236 CA2530504 |
496 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2530505 rs750217467 |
497 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA2530506 rs760583253 |
498 | K>E | No |
ClinGen ExAC |
|
|
CA80669120 rs151206451 |
499 | S>P | No |
ClinGen ESP gnomAD |
|
|
CA353937806 rs1452420157 |
499 | S>Y | No |
ClinGen TOPMed |
|
|
rs766305496 CA2530507 |
504 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA353937878 rs1283063933 |
506 | C>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 506 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1352719843 CA353937922 |
509 | R>G | No |
ClinGen gnomAD |
|
|
CA2530508 rs753757454 |
509 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353937997 rs1270986571 |
513 | L>H | No |
ClinGen gnomAD |
|
|
CA353937990 rs1271106433 |
513 | L>I | No |
ClinGen TOPMed |
|
|
CA80669173 rs748543493 |
516 | I>V | No |
ClinGen Ensembl |
|
|
rs756223374 CA80669200 |
517 | L>F | No |
ClinGen Ensembl |
|
|
rs1190096177 CA353938086 |
518 | M>V | No |
ClinGen gnomAD |
|
|
rs1250680425 CA353938107 |
519 | N>S | No |
ClinGen gnomAD |
|
|
rs557395762 CA353938123 |
520 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2530510 rs557395762 |
520 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353938134 rs1275777438 |
521 | L>F | No |
ClinGen TOPMed |
|
|
rs1378783606 CA353938202 |
524 | S>L | No |
ClinGen gnomAD |
|
|
rs921163152 CA80669207 |
526 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
COSM3391951 CA2530511 rs751656970 |
527 | N>S | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1352152330 CA353938293 |
528 | S>A | No |
ClinGen gnomAD |
|
|
rs186316383 CA2530512 |
529 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2530513 rs781443126 |
530 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs913596832 CA80669262 |
530 | W>C | No |
ClinGen TOPMed |
|
|
rs781443126 CA80669256 |
530 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353938443 rs1485335436 |
532 | K>N | No |
ClinGen gnomAD |
|
|
rs867292879 CA80669278 |
532 | K>R | No |
ClinGen Ensembl |
|
|
rs1449188267 CA353938450 |
533 | V>I | No |
ClinGen gnomAD |
|
|
CA2530514 rs746202034 |
534 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs770106261 CA2530515 |
535 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs770106261 CA2530516 |
535 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs539957220 CA80669289 |
536 | I>T | No |
ClinGen 1000Genomes |
|
|
rs1293728710 CA353938554 |
538 | L>P | No |
ClinGen gnomAD |
|
|
CA2530519 rs140281889 |
539 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2530520 rs761274248 |
539 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353938560 rs140281889 |
539 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201622419 CA2530521 |
540 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA80669351 rs371303711 |
542 | M>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs760423802 CA353938649 |
543 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs760423802 CA2530523 |
543 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA2530522 rs146975894 |
543 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA353938675 rs1440413482 |
544 | Q>H | No |
ClinGen gnomAD |
|
|
rs1197076860 CA353938681 |
545 | E>Q | No |
ClinGen TOPMed |
|
|
CA2530524 rs766217493 |
547 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs896721500 CA80669368 |
548 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1164695244 CA353938770 |
549 | K>N | No |
ClinGen gnomAD |
|
|
COSM1536024 rs145724685 CA2530525 |
552 | E>D | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1198348746 CA353938913 |
555 | I>L | No |
ClinGen TOPMed |
|
|
CA353938933 rs1467265265 |
555 | I>T | No |
ClinGen gnomAD |
|
|
rs200719675 CA2530527 |
557 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs200719675 CA2530526 |
557 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA353939013 rs751637919 |
560 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2530528 rs751637919 |
560 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2530529 rs757368975 |
561 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA2530531 rs750598522 |
567 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs780402915 CA2530533 |
568 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs756345846 CA2530532 |
568 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1461480073 CA353939140 |
570 | G>C | No |
ClinGen gnomAD |
|
|
rs749686631 CA2530534 |
571 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1472020651 CA353939168 |
572 | P>R | No |
ClinGen gnomAD |
|
|
rs1239507232 CA353939158 |
572 | P>T | No |
ClinGen gnomAD |
|
|
rs1367751467 CA353939188 |
574 | P>L | No |
ClinGen TOPMed |
|
|
CA2530535 rs769180270 |
574 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1168599197 CA353939215 |
577 | I>M | No |
ClinGen gnomAD |
|
|
CA353939214 rs574639338 |
577 | I>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2530536 rs574639338 |
577 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 578 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs981658186 CA80669400 |
580 | M>L | No |
ClinGen Ensembl |
|
|
CA2530537 rs748717758 |
580 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs950754035 CA80669433 |
581 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs771656954 CA2530538 |
582 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA353939258 rs1331806184 |
584 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 585 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353939268 rs1559753577 |
585 | Q>P | No |
ClinGen Ensembl |
|
|
CA353939331 rs1356303529 |
593 | I>V | No |
ClinGen gnomAD |
|
|
CA80670595 rs201706367 |
596 | S>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA2530563 rs769434149 |
597 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs138214706 CA80670608 |
598 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1179437380 CA353940724 |
600 | E>D | No |
ClinGen gnomAD |
|
|
rs1240295043 CA353940733 |
601 | I>L | No |
ClinGen gnomAD |
|
|
rs200448117 CA2530580 |
601 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769497205 CA2530581 |
603 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs779807969 CA2530582 |
606 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768562620 CA353940917 |
610 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2530585 rs774226920 |
611 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA353940965 rs1173709019 |
614 | P>S | No |
ClinGen gnomAD |
|
|
rs542906078 CA2530586 |
615 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 617 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371142337 CA2530587 |
618 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1397638345 CA353941051 |
619 | N>S | No |
ClinGen gnomAD |
|
|
rs1408582413 CA353941131 |
624 | S>* | No |
ClinGen gnomAD |
|
|
CA353941153 rs1308973145 |
625 | H>Q | No |
ClinGen gnomAD |
|
|
rs1341450162 CA353941211 |
629 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 629 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759665905 CA2530590 |
630 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145767744 CA2530591 |
631 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 632 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199312907 CA353941254 |
633 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1187529189 CA353941260 |
634 | N>T | No |
ClinGen TOPMed |
|
|
rs763460877 CA2530593 |
635 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA353941266 rs1440850461 |
635 | K>T | No |
ClinGen TOPMed |
|
|
CA2530595 rs764575043 COSM160625 |
636 | D>H | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs764575043 CA2530594 |
636 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1264299474 CA353941276 |
637 | G>R | No |
ClinGen TOPMed |
|
|
rs757785826 CA2530596 |
639 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353941296 rs1259532003 |
640 | I>T | No |
ClinGen TOPMed |
|
|
CA2530597 rs138378872 |
640 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353941332 rs1185270341 CA353941330 |
645 | S>* | No |
ClinGen gnomAD |
|
|
rs750005271 CA353941340 |
647 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs750005271 CA2530599 |
647 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA353941356 rs1401473225 |
649 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs755713056 CA2530601 |
650 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA2530600 rs755713056 COSM350699 |
650 | K>E | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 651 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 652 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768402749 CA2530603 |
653 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs778687380 CA2530604 |
654 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA80671859 rs1037023586 |
655 | V>I | No |
ClinGen TOPMed |
|
|
rs777814855 CA2530625 |
656 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746942385 CA2530626 |
657 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353941431 rs1314143271 |
659 | Q>* | No |
ClinGen gnomAD |
|
|
rs1308234126 CA353941455 |
662 | K>E | No |
ClinGen TOPMed |
|
|
CA2530629 rs775714511 |
662 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390067669 CA353941474 CA353941475 |
664 | K>N | No |
ClinGen TOPMed |
|
|
rs749462079 CA2530630 |
664 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1017471945 CA353941477 |
665 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA80671907 rs1017471945 |
665 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2530632 rs529053083 |
669 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1334312043 CA353941782 |
671 | K>E | No |
ClinGen TOPMed |
|
|
rs376622371 CA2530645 |
672 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353941797 rs1415491453 |
673 | S>P | No |
ClinGen TOPMed |
|
|
CA353941814 rs1182396491 |
675 | E>G | No |
ClinGen TOPMed |
|
|
rs780266718 CA2530648 |
676 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2530647 rs757273723 |
676 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2530649 rs749443849 |
677 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA353942123 rs1271881420 |
681 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA353942121 rs1271881420 |
681 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2530674 rs777074181 |
682 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs200843035 CA2530676 |
684 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1443204679 CA353942191 |
685 | E>K | No |
ClinGen TOPMed |
|
|
rs940388389 CA80675463 |
687 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs940388389 CA353942242 |
687 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA353942255 rs1263920197 |
689 | R>K | No |
ClinGen gnomAD |
|
|
rs377496248 CA80675475 |
690 | K>Q | No |
ClinGen ESP |
|
| TCGA novel | 691 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 692 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 693 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1168740327 CA353942283 |
693 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs148358744 CA2530678 |
695 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763718838 CA2530679 |
696 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs763488157 CA80675493 |
697 | S>L | No |
ClinGen Ensembl |
|
|
rs751364933 CA2530680 |
697 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA353942316 rs1298748643 |
698 | V>D | No |
ClinGen gnomAD |
|
|
CA2530682 rs761746683 |
698 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761746683 CA2530681 |
698 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353942323 rs1277424117 |
699 | S>R | No |
ClinGen TOPMed |
|
|
rs750342249 CA2530683 |
699 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA353942342 rs1269126438 |
702 | I>M | No |
ClinGen gnomAD |
|
|
rs201554021 CA2530684 |
702 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1029274466 CA80675544 |
704 | D>V | No |
ClinGen TOPMed |
|
|
rs1193601147 CA353942366 |
706 | A>T | No |
ClinGen gnomAD |
|
|
rs141534372 CA2530686 |
708 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 708 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1281081047 CA353942401 |
711 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 712 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353942417 rs1346179796 |
713 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs146353615 CA2530687 |
714 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA353942432 rs1362412963 |
715 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 717 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353942473 rs1559760513 |
720 | Y>C | No |
ClinGen Ensembl |
|
|
CA2530689 rs758616906 |
721 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs758616906 CA80675627 |
721 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs777908544 CA2530690 |
723 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA353942491 rs1576422341 |
723 | D>G | No |
ClinGen Ensembl |
|
|
CA2530692 rs180917813 |
725 | L>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746316530 CA2530694 |
726 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353942527 rs1479009592 |
728 | L>P | No |
ClinGen gnomAD |
|
|
CA353942530 rs1433894160 |
729 | D>Y | No |
ClinGen gnomAD |
|
|
rs1165074889 CA353942550 |
731 | I>M | No |
ClinGen TOPMed |
|
|
CA2530696 rs775060621 |
731 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1576422450 CA353942555 |
732 | E>D | No |
ClinGen Ensembl |
|
|
CA2530698 rs768330017 |
732 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA2530697 rs762408224 |
732 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2530736 rs749686850 |
734 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA80683877 rs766078975 |
734 | G>D | No |
ClinGen Ensembl |
|
|
rs749686850 CA353944368 |
734 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs139764708 COSM3800858 CA2530738 |
735 | S>L | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs747703086 CA2530739 |
737 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs912979841 CA80683886 |
738 | K>N | No |
ClinGen TOPMed |
|
|
rs1559767703 CA353944396 |
739 | V>I | No |
ClinGen Ensembl |
|
|
CA2530741 rs747388956 |
740 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA353944423 rs1311616667 |
741 | T>A | No |
ClinGen gnomAD |
|
|
rs1287034220 CA353944447 |
742 | D>V | No |
ClinGen TOPMed |
|
|
rs776499806 CA2530744 |
743 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776499806 CA353944462 |
743 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2530743 rs375678393 |
743 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353944476 rs1324894244 |
744 | G>V | No |
ClinGen gnomAD |
|
|
CA80683897 rs753341523 |
748 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2530746 rs759377744 |
749 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208580751 CA353944561 |
750 | R>G | No |
ClinGen gnomAD |
|
|
rs1279562086 CA353944572 |
750 | R>S | No |
ClinGen gnomAD |
|
|
rs769789473 CA2530747 |
750 | R>T | No |
ClinGen ExAC |
|
|
rs1195187435 CA353944596 |
752 | A>G | No |
ClinGen gnomAD |
|
|
rs774382078 CA2530748 |
752 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1195187435 CA353944598 COSM1036095 |
752 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs761929070 CA2530749 |
753 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2530750 rs144458628 |
753 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750569405 CA2530751 |
754 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA353944618 rs1378523820 |
754 | Q>P | No |
ClinGen gnomAD |
|
|
CA353944628 rs1260328458 |
755 | R>K | No |
ClinGen TOPMed |
|
|
rs201346877 CA2530752 |
756 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353944644 rs1212091256 |
756 | Q>P | No |
ClinGen TOPMed |
|
|
CA80683921 rs372300162 |
757 | L>I | No |
ClinGen ESP TOPMed |
|
|
rs757828691 CA2530754 |
760 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA2530756 rs766591512 |
761 | H>Y | No |
ClinGen ExAC |
|
|
rs1290707220 CA353944714 |
762 | Y>C | No |
ClinGen gnomAD |
|
|
CA2530757 rs754299113 |
763 | Q>R | No |
ClinGen ExAC |
|
|
rs1332287728 CA353944726 |
764 | C>R | No |
ClinGen TOPMed |
|
|
rs368191750 CA2530758 |
764 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353944732 rs1576438127 |
765 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 766 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs80072641 CA2530781 |
767 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs893499918 CA80684038 |
768 | K>Q | No |
ClinGen gnomAD |
|
|
CA353944789 rs1466854501 |
770 | Q>H | No |
ClinGen gnomAD |
|
|
CA2530783 rs758989319 |
772 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1030674988 CA80684047 |
772 | R>S | No |
ClinGen TOPMed |
|
|
CA2530784 rs777135933 |
773 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179421773 CA353944808 |
774 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 775 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353944824 rs1406390768 |
776 | F>S | No |
ClinGen gnomAD |
|
|
rs1419058031 CA353944829 |
777 | R>W | No |
ClinGen gnomAD |
|
|
CA353944842 rs1172254363 |
779 | Q>K | No |
ClinGen TOPMed |
|
|
rs1452038881 CA353944845 |
779 | Q>P | No |
ClinGen TOPMed |
|
|
rs751146926 CA2530785 |
780 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2530786 rs756827182 |
780 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs780946609 CA2530787 |
781 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA2530788 rs745540549 |
782 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs769535160 CA2530789 COSM1204847 |
783 | M>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1372508972 CA353944885 |
783 | M>T | No |
ClinGen gnomAD |
|
|
CA80684060 rs368779018 |
785 | I>L | No |
ClinGen ESP TOPMed |
|
|
rs368779018 CA353944909 |
785 | I>V | No |
ClinGen ESP TOPMed |
|
|
rs1294518480 CA353944923 |
786 | K>E | No |
ClinGen gnomAD |
|
|
rs1332052254 CA353944926 |
786 | K>I | No |
ClinGen gnomAD |
|
|
rs1436916574 CA353944987 |
790 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 790 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA80684067 rs13063311 |
792 | I>F | No |
ClinGen Ensembl |
|
|
CA353945017 rs1402669363 |
792 | I>T | No |
ClinGen gnomAD |
|
|
CA2530791 rs371443589 |
793 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2530790 rs371443589 |
793 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353945049 rs1319607334 |
795 | L>P | No |
ClinGen gnomAD |
|
|
CA353945094 rs200775918 |
798 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200588877 CA80684072 |
800 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2530794 rs200588877 |
800 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747164803 CA2530795 |
801 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM173272 rs1259643163 CA353945142 |
802 | G>E | Variant assessed as Somatic; 9.484e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA353945180 rs1474283043 |
805 | K>M | No |
ClinGen gnomAD |
|
|
rs749600283 CA2530796 |
806 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2530815 rs570567209 |
810 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2530814 rs149396842 |
810 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149807869 CA2530816 |
811 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2530817 rs756611569 COSM1036097 |
811 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2530818 rs746077302 |
814 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2530819 rs746077302 |
814 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2530820 rs201857897 |
815 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2530821 rs763422737 |
818 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs764388167 CA2530822 |
818 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs774880939 CA2530823 |
820 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762228363 CA2530824 |
821 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA80687315 rs909921283 |
821 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2530825 rs190719786 |
823 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2530826 rs749991470 |
824 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA353946896 rs573452194 |
824 | K>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2530827 rs573452194 |
824 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2530829 rs753513207 |
825 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2530828 rs145772233 |
825 | E>K | No |
ClinGen ESP ExAC |
|
|
CA353946927 rs1453656633 |
826 | Q>H | No |
ClinGen gnomAD |
|
|
CA2530830 rs754766588 |
826 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353946931 rs1468543315 |
827 | L>V | No |
ClinGen TOPMed |
|
|
CA2530831 rs778581424 |
828 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778581424 CA353946944 |
828 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398419204 CA353946960 |
829 | M>T | No |
ClinGen gnomAD |
|
|
rs148945728 CA2530832 |
829 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377518183 CA2530854 |
832 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353948217 rs1440593173 |
832 | S>T | No |
ClinGen gnomAD |
|
|
rs1338035706 CA353948221 COSM397219 |
833 | Q>E | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA353948233 rs1559775978 |
834 | W>L | No |
ClinGen Ensembl |
|
|
rs371366544 CA2530855 COSM40046 |
835 | E>K | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1278969669 CA353948246 |
836 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA353948257 rs1335566969 |
837 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 838 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 838 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 840 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1029245868 CA80688544 |
841 | L>R | No |
ClinGen Ensembl |
|
|
rs1235318686 CA353948326 |
843 | S>G | No |
ClinGen gnomAD |
|
|
CA353948332 rs1271468929 |
843 | S>N | No |
ClinGen gnomAD |
|
|
rs1235318686 CA353948324 |
843 | S>R | No |
ClinGen gnomAD |
|
|
rs1487908324 CA353948360 |
845 | M>L | No |
ClinGen TOPMed |
|
|
CA2530856 rs749465439 |
847 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2530858 rs373711969 |
848 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA80688550 rs369909875 |
848 | Y>H | No |
ClinGen Ensembl |
|
|
rs202141071 CA2530859 |
849 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs866395142 CA80688558 |
850 | S>R | No |
ClinGen Ensembl |
|
|
rs773671554 CA2530861 |
854 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1576454514 CA353948543 |
855 | E>K | No |
ClinGen Ensembl |
|
|
CA353948674 rs1559776117 |
859 | A>G | No |
ClinGen Ensembl |
|
|
CA2530864 rs776063503 |
862 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA2530866 rs764839469 |
863 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs962450325 CA80688591 |
863 | E>K | No |
ClinGen TOPMed |
|
|
CA353948820 rs1396070176 |
866 | F>C | No |
ClinGen gnomAD |
|
| TCGA novel | 866 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 867 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2530901 rs758681364 |
868 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA353948835 rs752808225 |
868 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752808225 CA2530899 |
868 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2530902 rs747415552 |
870 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201697166 CA2530903 |
870 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs781500937 CA2530904 |
871 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA353948854 rs1383056076 |
871 | R>S | No |
ClinGen gnomAD |
|
|
rs1434559842 CA353948881 |
875 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 877 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746416339 CA2530905 |
877 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs746416339 CA353948894 |
877 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs769117565 CA80689353 CA2530907 |
879 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA80689365 rs372360426 |
882 | E>G | No |
ClinGen Ensembl |
|
|
rs902997531 CA80689367 |
886 | L>P | No |
ClinGen Ensembl |
|
|
rs1231933270 CA353948955 |
886 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs145244380 CA2530909 |
887 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1302626876 CA353948961 |
887 | N>Y | No |
ClinGen gnomAD |
|
|
rs1258500980 CA353948992 |
891 | R>S | No |
ClinGen gnomAD |
|
|
CA80689368 rs922503390 |
892 | V>M | No |
ClinGen TOPMed |
|
|
CA353949005 rs1245874668 |
894 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA353949007 rs1349420584 |
894 | H>P | No |
ClinGen gnomAD |
|
|
CA353949006 rs1245874668 |
894 | H>Y | No |
ClinGen TOPMed |
|
|
rs774254362 CA2530910 |
895 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs756702923 CA2530926 |
899 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1384106623 CA353949238 |
900 | L>P | No |
ClinGen TOPMed |
|
|
CA80690176 rs913242837 |
900 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 901 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA80690183 rs941929295 |
902 | S>P | No |
ClinGen Ensembl |
|
|
rs1463414988 CA353949260 |
904 | Q>E | No |
ClinGen gnomAD |
|
|
rs866466436 CA80690205 |
905 | L>F | No |
ClinGen Ensembl |
|
|
rs748844032 CA2530928 |
905 | L>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA353949281 rs1332298749 |
907 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
COSM294337 rs147602420 CA2530929 |
908 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA2530932 rs771709269 |
910 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353949314 rs1220371136 |
912 | W>R | No |
ClinGen gnomAD |
|
|
CA353949329 rs1353177223 |
914 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2530933 rs546493154 |
914 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2530935 rs770941309 |
915 | I>V | No |
ClinGen ExAC TOPMed |
|
|
CA353949345 rs1489146882 |
916 | V>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 916 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1576459160 CA353949346 |
917 | A>T | No |
ClinGen Ensembl |
|
|
rs1290399823 CA353949350 |
917 | A>V | No |
ClinGen Ensembl |
|
|
CA353949354 rs1358692574 |
918 | D>H | No |
ClinGen TOPMed |
|
|
rs112294771 CA80690231 |
919 | V>A | No |
ClinGen Ensembl |
|
|
rs1184739436 CA353949378 |
921 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA353949390 rs1250097371 |
923 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1250097371 CA353949389 |
923 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 924 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs928158804 CA80690237 |
927 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs777400027 CA80690958 |
928 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs777400027 CA2530951 |
928 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs770656287 CA2530953 |
931 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA80690970 rs866788055 |
932 | E>A | No |
ClinGen TOPMed |
|
|
rs1175466313 CA353949462 |
932 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 935 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776512655 CA2530954 |
935 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs961586293 CA80690982 |
936 | K>R | No |
ClinGen Ensembl |
|
|
CA353949508 rs1159262878 |
938 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs974059823 CA80690986 |
940 | G>R | No |
ClinGen TOPMed |
|
|
CA80690990 rs919916089 |
945 | T>A | No |
ClinGen Ensembl |
|
|
CA2530957 rs774471542 |
947 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1044872052 CA80690994 |
948 | P>L | No |
ClinGen gnomAD |
|
|
rs1442227680 CA353949577 |
949 | V>F | No |
ClinGen gnomAD |
|
|
CA2530960 rs151205891 |
953 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1218705549 CA353949612 |
954 | P>L | No |
ClinGen gnomAD |
|
|
rs761048663 CA2530961 |
955 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201115273 CA80691024 |
956 | P>S | No |
ClinGen TOPMed |
|
|
rs754341021 CA2530963 |
957 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs939190203 CA80691036 |
957 | S>I | No |
ClinGen Ensembl |
|
|
CA2530964 rs755604355 |
959 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs764838895 CA2530965 |
960 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA353950000 COSM727380 rs1330184909 CA353950002 |
962 | M>I | Variant assessed as Somatic; 0.0 impact. lung [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA2530995 rs745697984 |
962 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs973083206 CA80694802 |
962 | M>V | No |
ClinGen TOPMed |
|
|
CA2530996 rs756023023 |
964 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs779991172 CA2530997 |
966 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2530998 rs749213340 |
969 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1287878330 CA353950045 |
969 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA353950053 rs1282159565 |
970 | L>P | No |
ClinGen gnomAD |
|
|
CA353950109 rs1213715037 |
978 | P>S | No |
ClinGen TOPMed |
|
|
rs148202329 CA2531003 |
982 | V>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2531002 rs148202329 |
982 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
| TCGA novel | 985 | M>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1284665328 CA353950184 |
985 | M>I | No |
ClinGen gnomAD |
|
|
rs930469382 CA80694868 |
988 | V>I | No |
ClinGen TOPMed |
|
|
rs140068430 CA2531005 |
990 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140068430 CA353950250 |
990 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 990 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs573299410 CA2531011 |
993 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs113889323 CA2531010 |
993 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 995 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs535414576 CA2531014 |
999 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2531015 rs535414576 |
999 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761419764 CA2531013 |
999 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1366846927 CA353950390 |
1000 | R>T | No |
ClinGen TOPMed |
|
|
rs866074065 CA353950398 |
1001 | A>G | No |
ClinGen gnomAD |
|
|
CA80694962 rs866074065 |
1001 | A>V | No |
ClinGen gnomAD |
|
| rs1559785411 | 1003 | L>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1003 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753803161 CA2531019 |
1003 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353950422 rs1157821930 |
1004 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 1006 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2531041 rs778667404 |
1006 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374305698 CA80696610 |
1011 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2531042 rs752717747 |
1012 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2531043 rs757343021 |
1013 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs746077410 CA2531045 |
1015 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2531047 rs780431679 |
1017 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs368665758 CA2531049 |
1018 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2531050 rs368665758 COSM1243218 |
1018 | A>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1188357261 CA353950510 |
1018 | A>V | No |
ClinGen gnomAD |
|
|
rs575418979 CA2531051 |
1019 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353950531 rs1285808839 |
1022 | S>N | No |
ClinGen TOPMed |
|
|
rs371922680 CA2531052 |
1023 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs925946583 CA353950542 |
1024 | G>R | No |
ClinGen TOPMed |
|
|
rs925946583 CA80696679 |
1024 | G>S | No |
ClinGen TOPMed |
|
|
CA2531055 rs760345508 |
1026 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2531054 rs760345508 |
1026 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375125843 CA2531053 |
1026 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1386767072 CA353950569 |
1029 | P>A | No |
ClinGen gnomAD |
|
|
CA353950585 rs1290890022 |
1031 | I>M | No |
ClinGen TOPMed |
|
|
CA2531060 rs142417383 |
1031 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752627681 CA2531059 |
1031 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2531061 rs767699112 |
1032 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA80696724 rs756023535 |
1032 | M>V | No |
ClinGen Ensembl |
|
|
rs544025738 CA2531063 |
1035 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750568890 CA2531062 |
1035 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2531064 rs780086432 |
1036 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA353950645 rs1210491562 |
1040 | R>G | No |
ClinGen gnomAD |
|
|
CA80696747 rs990431971 |
1041 | L>P | No |
ClinGen TOPMed |
|
|
CA353950662 rs1297403512 |
1041 | L>V | No |
ClinGen TOPMed |
|
|
rs755230406 CA2531066 |
1043 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2531068 rs779262106 |
1044 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1351359348 CA353950721 |
1046 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 1047 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2531070 rs772609210 |
1047 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1559787176 CA353950763 |
1049 | T>I | No |
ClinGen Ensembl |
|
|
CA353951166 rs78216842 |
1052 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2531089 rs549334178 |
1053 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770292878 CA353951177 |
1054 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353951176 rs770292878 |
1054 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770292878 CA2531090 |
1054 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1055 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1373511077 CA353951192 COSM1417651 CA353951193 |
1056 | F>L | Variant assessed as Somatic; 0.0 impact. large_intestine Variant assessed as Somatic; impact. [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA2531093 rs138409858 |
1058 | R>Q | Variant assessed as Somatic; 4.63e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs150802711 CA2531092 |
1058 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1059 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA80697741 rs963746236 |
1063 | A>T | No |
ClinGen TOPMed |
|
|
rs1226905016 CA353951244 |
1064 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1376544351 CA353951241 |
1064 | Y>H | No |
ClinGen gnomAD |
|
|
CA353951257 rs1219738351 |
1066 | K>T | No |
ClinGen gnomAD |
|
|
rs1576476003 CA353951276 |
1069 | S>P | No |
ClinGen Ensembl |
|
|
CA2531098 rs761823361 |
1073 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2531099 rs766353855 |
1074 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA353951318 rs1482404131 |
1075 | E>G | No |
ClinGen gnomAD |
|
|
CA80697765 rs139727785 |
1076 | I>V | No |
ClinGen 1000Genomes |
|
|
rs754014839 CA2531100 |
1077 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759733783 CA2531101 |
1078 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2531103 rs765397098 |
1081 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2531102 rs765397098 |
1081 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA353951374 rs1434746009 |
1083 | F>L | No |
ClinGen gnomAD |
|
|
CA353951379 rs1357004355 |
1084 | I>T | No |
ClinGen gnomAD |
|
|
rs1177620492 CA353951376 |
1084 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA353951384 rs1446919251 |
1085 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 1086 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2531104 rs758695716 |
1086 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs988376535 CA80697854 |
1087 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 1087 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2531105 rs778127451 |
1087 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA80697859 rs915473131 |
1088 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
rs200730140 CA80697865 |
1089 | S>F | No |
ClinGen Ensembl |
|
|
CA353951417 rs752000910 |
1090 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752000910 CA2531106 |
1090 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353951503 rs1173645316 |
1096 | V>A | No |
ClinGen gnomAD |
|
|
rs1006307574 CA80698170 |
1096 | V>M | No |
ClinGen Ensembl |
|
|
CA353951505 rs1218754282 |
1097 | S>P | No |
ClinGen gnomAD |
|
|
rs1289166756 CA353951522 |
1098 | N>I | No |
ClinGen gnomAD |
|
| TCGA novel | 1100 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353951547 rs1468975121 |
1100 | N>S | No |
ClinGen TOPMed |
|
|
rs565337919 CA2531119 |
1102 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353951584 rs1576476863 |
1103 | S>L | No |
ClinGen Ensembl |
|
|
CA353951592 rs1272624002 |
1104 | P>L | No |
ClinGen TOPMed |
|
|
rs202173076 CA2531121 |
1104 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763222655 CA2531122 |
1108 | P>L | No |
ClinGen ExAC TOPMed |
|
|
rs78698346 CA2531123 |
1109 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757679338 CA2531125 |
1112 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs751997926 CA2531124 |
1112 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1177293792 CA353951690 |
1113 | A>S | No |
ClinGen gnomAD |
|
|
CA2531126 rs781687226 |
1113 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA353951703 rs1471446855 |
1114 | A>S | No |
ClinGen gnomAD |
|
|
rs750995032 CA2531127 |
1114 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA353951744 rs1304072878 |
1118 | K>E | No |
ClinGen TOPMed |
|
|
rs754743303 CA2531132 |
1119 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353951788 rs1324596048 |
1121 | W>* | No |
ClinGen TOPMed |
|
| TCGA novel | 1121 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2531133 rs778540602 |
1121 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs1352558011 CA353951784 |
1121 | W>L | No |
ClinGen gnomAD |
|
|
rs1226854918 CA353951796 |
1122 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1356830880 CA353951825 |
1125 | T>P | No |
ClinGen gnomAD |
|
|
CA353951848 rs1229850918 |
1126 | S>L | No |
ClinGen gnomAD |
|
|
CA353951876 rs1398206152 |
1128 | G>V | No |
ClinGen TOPMed |
|
|
rs143838629 CA80698217 |
1129 | P>R | No |
ClinGen Ensembl |
|
|
rs1205251441 CA353951896 |
1130 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1253423036 CA353951899 |
1131 | T>P | No |
ClinGen gnomAD |
|
|
CA353951923 rs1466853476 |
1132 | W>C | No |
ClinGen gnomAD |
|
|
rs561252711 CA2531136 |
1132 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746963885 CA2531137 |
1133 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165377195 CA353951944 |
1134 | G>A | No |
ClinGen gnomAD |
|
|
rs1412177038 CA353951954 |
1135 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1412177038 CA353951955 |
1135 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1252504023 CA353951967 |
1137 | N>H | No |
ClinGen TOPMed |
|
|
rs981166774 CA80698265 |
1142 | E>G | No |
ClinGen TOPMed |
|
|
CA80698286 rs1029453991 |
1146 | E>V | No |
ClinGen TOPMed |
|
|
rs1403094030 CA353952136 |
1147 | P>L | No |
ClinGen gnomAD |
|
|
CA353952140 rs1171612895 |
1148 | C>R | No |
ClinGen TOPMed |
|
|
CA353952202 rs1233514505 |
1152 | H>Q | No |
ClinGen TOPMed |
|
|
rs758155728 CA2531157 |
1152 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370188398 CA2531158 |
1154 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746948306 CA353952254 |
1157 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2531160 rs746948306 |
1157 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1256146130 CA353952307 |
1161 | S>* | No |
ClinGen gnomAD |
|
|
CA353952335 rs1347555943 |
1164 | P>S | No |
ClinGen TOPMed |
|
|
CA2531165 rs370870451 |
1166 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353952358 rs1352288703 |
1166 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs368003594 CA2531166 |
1170 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1200242694 CA353952419 |
1171 | A>G | No |
ClinGen gnomAD |
|
|
rs1189633276 CA353952422 |
1172 | Q>K | No |
ClinGen gnomAD |
|
|
CA353952536 rs1268708716 |
1173 | C>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1434936111 CA353952565 |
1176 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1177 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1177 | W>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372592645 CA2531181 |
1181 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2531182 rs745794099 |
1184 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768720534 CA2531183 |
1185 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA2531184 rs778914746 |
1186 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1188 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1293999849 CA353952679 |
1189 | L>F | No |
ClinGen gnomAD |
|
|
rs773688460 CA2531187 |
1191 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2531190 rs771427909 |
1194 | P>S | No |
ClinGen ExAC |
|
|
CA353952716 rs1327480051 |
1195 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 1196 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1266489716 CA353952752 |
1200 | H>P | No |
ClinGen gnomAD |
|
|
CA80699806 rs866507440 |
1200 | H>Q | No |
ClinGen gnomAD |
|
|
rs367842769 CA353952772 |
1203 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367842769 CA2531194 |
1203 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs764074749 CA2531193 |
1203 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2531195 rs764802925 |
1206 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2531197 rs751865193 |
1207 | K>E | No |
ClinGen ExAC gnomAD |
No associated diseases with Q86Y13
4 regional properties for Q86Y13
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Zinc finger, RING-type | 1148 - 1188 | IPR001841 |
| domain | E3 ubiquitin-protein ligase DZIP3, C3H2C3-type RING finger | 1147 - 1191 | IPR033103 |
| domain | DZIP3-like HEPN domain | 421 - 558 | IPR041249 |
| domain | E3 ubiquitin-protein ligase TTC3/DZIP3 domain | 228 - 334 | IPR043866 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.2.27 | Aminoacyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| metal ion binding | Binding to a metal ion. |
| phosphatase binding | Binding to a phosphatase. |
| polyubiquitin modification-dependent protein binding | Binding to a protein upon poly-ubiquitination of the target protein. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| ubiquitin protein ligase activity | Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues. |
| ubiquitin-protein transferase activity | Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| protein polyubiquitination | Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain. |
18 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9VE61 | CG7694 | E3 ubiquitin-protein ligase RNF181 homolog | Drosophila melanogaster (Fruit fly) | PR |
| O00237 | RNF103 | E3 ubiquitin-protein ligase RNF103 | Homo sapiens (Human) | PR |
| Q9Y3E7 | CHMP3 | Charged multivesicular body protein 3 | Homo sapiens (Human) | EV |
| Q8ND24 | RNF214 | RING finger protein 214 | Homo sapiens (Human) | PR |
| Q9R1W3 | Rnf103 | E3 ubiquitin-protein ligase RNF103 | Mus musculus (Mouse) | PR |
| Q9EPZ8 | Rnf103 | E3 ubiquitin-protein ligase RNF103 | Rattus norvegicus (Rat) | PR |
| Q9SI09 | XERICO | Probable E3 ubiquitin-protein ligase XERICO | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZV51 | ATL56 | RING-H2 finger protein ATL56 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SKK8 | ATL22 | RING-H2 finger protein ATL22 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P0CH02 | ATL21B | Putative RING-H2 finger protein ATL21B | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P0CH01 | ATL21A | Putative RING-H2 finger protein ATL21A | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O22255 | ATL64 | RING-H2 finger protein ATL64 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8RXX9 | ATL6 | E3 ubiquitin-protein ligase ATL6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8GYT9 | SIS3 | E3 ubiquitin-protein ligase SIS3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LZJ6 | ATL5 | RING-H2 finger protein ATL5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8GXF8 | SGR9 | E3 ubiquitin-protein ligase SGR9, amyloplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8LGA5 | ATL31 | E3 ubiquitin-protein ligase ATL31 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LUZ9 | ATL63 | RING-H2 finger protein ATL63 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDSLPDEFFV | RHPAVEDQRK | EETENKLEKS | SGQLNKQEND | IPTDLVPVNL | LLEVKKLLNA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| INTLPKGVVP | HIKKFLQEDF | SFQTMQREVA | ANSQNGEEIV | PALTLRFLIT | QLEAALRNIQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AGNYTAHQIN | IGYYLTLLFL | YGVALTERGK | KEDYTEAENK | FLVMKMMIQE | NEICENFMSL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VYFGRGLLRC | AQKRYNGGLL | EFHKSLQEIG | DKNDHWFDID | PTEDEDLPTT | FKDLLNNFIK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TTESNIMKQT | ICSYLDCERS | CEADILKNTS | YKGFFQLMCS | KSCCVYFHKI | CWKKFKNLKY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PGENDQSFSG | KKCLKEGCTG | DMVRMLQCDV | PGIVKILFEV | VRKDEYITIE | NLGASYRKLI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SLKITDTDIR | PKISLKFNTK | DEMPIFKLDY | NYFYHLLHII | IISGTDIVRQ | IFDEAMPPPL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LKKELLIHKN | VLESYYNHLW | TNHPLGGSWH | LLYPPNKELP | QSKQFDLCLL | LALIKHLNVF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PAPKKGWNME | PPSSDISKSA | DILRLCKYRD | ILLSEILMNG | LTESQFNSIW | KKVSDILLRL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GMMQEDIDKV | KENPIENISL | DYHQLSVYLG | IPVPEIIQRM | LSCYQQGIAL | QSITGSQRIE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| IEELQNEEEE | LSPPLMEYNI | NVKSHPEIQF | AEINKDGTSI | PSESSTESLK | DLQEVKSKQR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KKKKTKNKKN | KDSKEDQVPY | VVEKEEQLRK | EQANPHSVSR | LIKDDASDVQ | EDSAMEDKFY |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SLDELHILDM | IEQGSAGKVT | TDYGETEKER | LARQRQLYKL | HYQCEDFKRQ | LRTVTFRWQE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| NQMQIKKKDK | IIASLNQQVA | FGINKVSKLQ | RQIHAKDNEI | KNLKEQLSMK | RSQWEMEKHN |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LESTMKTYVS | KLNAETSRAL | TAEVYFLQCR | RDFGLLHLEQ | TEKECLNQLA | RVTHMAASNL |
| 910 | 920 | 930 | 940 | 950 | 960 |
| ESLQLKAAVD | SWNAIVADVR | NKIAFLRTQY | NEQINKVKQG | FALSTLPPVQ | LPPPPPSPEI |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| LMQQFLGRPL | VKESFFRPIL | TVPQMPAVCP | GVVSATGQPR | APLMTGIAWA | LPAPVGDAVP |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| PSAGLRSDPS | IMNWERITDR | LKTAFPQQTR | KELTDFLRKL | KDAYGKSLSE | LTFDEIVCKI |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| SQFIDPKKSQ | SQGKSVSNVN | CVSPSHSPSQ | PDAAQPPKPA | WRPLTSQGPA | TWEGASNPDE |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| EEEEEEPCVI | CHENLSPENL | SVLPCAHKFH | AQCIRPWLMQ | QGTCPTCRLH | VLLPEEFPGH |
| PSRQLPKI |