Q86TI2
PR
Gene name |
DPP9 |
Protein name |
Dipeptidyl peptidase 9 |
Names |
DP9, Dipeptidyl peptidase IV-related protein 2, DPRP-2, Dipeptidyl peptidase IX, DPP IX, Dipeptidyl peptidase-like protein 9, DPLP9 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:91039 |
EC number |
3.4.14.5: Dipeptidyl-peptidases and tripeptidyl-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
12 structures for Q86TI2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6EOQ | X-ray | 300 A | A/B/C/D | 1-863 | PDB |
| 6EOR | X-ray | 290 A | A/B/C/D | 1-863 | PDB |
| 6QZV | X-ray | 300 A | A/B/C/D | 1-863 | PDB |
| 6X6A | EM | 360 A | A/D | 1-863 | PDB |
| 6X6C | EM | 290 A | A/D | 1-863 | PDB |
| 7A3F | X-ray | 290 A | A/B/C/D | 1-863 | PDB |
| 7JKQ | EM | 330 A | A/D | 1-863 | PDB |
| 7JN7 | EM | 330 A | A/D | 1-863 | PDB |
| 7SVL | X-ray | 246 A | A/B/C/D | 1-863 | PDB |
| 7SVN | X-ray | 278 A | A/B/C/D | 1-863 | PDB |
| 7ZXS | X-ray | 181 A | A/B/C/D | 20-863 | PDB |
| AF-Q86TI2-F1 | Predicted | AlphaFoldDB |
675 variants for Q86TI2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs867151626 CA304511209 |
2 | A>T | No |
ClinGen Ensembl |
|
|
rs749337868 CA9104499 |
4 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9104496 rs748525527 |
5 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9104497 rs770262085 |
5 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748525527 CA403458223 |
5 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403458212 rs1163631116 |
6 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9104495 rs781720206 |
7 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1370863690 CA403458189 |
8 | T>A | No |
ClinGen gnomAD |
|
|
rs755414812 CA9104494 |
8 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490329111 CA403458143 |
10 | D>E | No |
ClinGen gnomAD |
|
|
rs757921029 CA9104491 |
10 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403458153 rs757921029 |
10 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293196032 CA403458136 |
11 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs979420846 CA304511151 |
11 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs888297197 CA304511121 |
12 | G>D | No |
ClinGen Ensembl |
|
|
rs554623381 CA9104490 |
12 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403458103 rs1228354097 |
13 | D>N | No |
ClinGen gnomAD |
|
|
rs763830144 CA9104486 |
14 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA9104487 rs558641911 |
14 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9104485 rs760479924 |
15 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs147966989 CA9104484 |
15 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368137637 CA9104482 |
16 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs927345174 CA304511088 |
17 | T>R | No |
ClinGen TOPMed |
|
|
rs1174692996 CA403457983 |
18 | D>G | No |
ClinGen gnomAD |
|
|
rs1374507410 CA403457996 |
18 | D>N | No |
ClinGen gnomAD |
|
|
rs770305424 CA9104480 |
19 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA403457968 rs770305424 |
19 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9104478 rs781767492 |
20 | P>L | Variant assessed as Somatic; 0.0004162 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748565435 CA9104479 |
20 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 21 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779839248 CA9104475 |
22 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9104474 rs199966895 |
23 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9104473 rs184824601 |
23 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778242524 CA9104472 |
25 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1451173537 CA403457695 |
29 | H>R | No |
ClinGen gnomAD |
|
|
rs1391506545 CA403457667 |
30 | S>L | No |
ClinGen gnomAD |
|
|
rs756811923 CA9104471 |
32 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1599946737 CA403457589 |
33 | G>E | No |
ClinGen Ensembl |
|
|
rs764026285 CA9104469 |
33 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403457580 rs1179104459 |
34 | L>F | No |
ClinGen gnomAD |
|
|
CA403457548 rs376189669 |
35 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9104467 rs376189669 |
35 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs755902379 CA9104468 |
35 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439582837 CA403457541 |
36 | S>G | No |
ClinGen gnomAD |
|
|
CA403457521 rs763126423 |
36 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA9104466 rs766602298 |
36 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA403457501 rs1263518235 |
37 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1461947370 CA403457513 |
37 | I>V | No |
ClinGen gnomAD |
|
|
CA403457474 rs1348418784 |
38 | I>M | No |
ClinGen gnomAD |
|
|
rs567829514 CA304510949 |
40 | G>S | No |
ClinGen 1000Genomes TOPMed |
|
|
CA9104462 rs761956128 |
42 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403457420 rs1378427480 |
42 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403457422 rs1378427480 |
42 | R>L | No |
ClinGen gnomAD |
|
|
CA9104461 rs777273279 |
43 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA403457402 rs1257845837 |
45 | S>A | No |
ClinGen gnomAD |
|
|
CA9104460 rs769344750 |
45 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs890929348 CA304510922 |
49 | V>I | No |
ClinGen TOPMed |
|
|
CA403457342 rs1399367689 |
50 | N>S | No |
ClinGen gnomAD |
|
|
CA403457319 rs1270330037 |
51 | K>N | No |
ClinGen TOPMed |
|
|
rs374165392 CA9104457 |
52 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA304510907 rs192960415 |
54 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9104455 rs778643552 |
54 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs748867597 CA9104453 |
55 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA403457232 rs1445507040 |
57 | Q>R | No |
ClinGen TOPMed |
|
|
CA9104449 rs200706790 |
62 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197244773 CA403457146 |
63 | D>H | No |
ClinGen TOPMed |
|
|
rs1288953909 CA403457137 |
63 | D>V | No |
ClinGen gnomAD |
|
|
CA9104447 rs199788755 |
67 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403457073 rs761969748 |
68 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA9104445 rs761969748 |
68 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1174122867 CA403457075 |
68 | H>Y | No |
ClinGen TOPMed |
|
|
CA403457055 rs1319401506 |
69 | S>F | No |
ClinGen gnomAD |
|
|
rs201589536 CA9104444 |
69 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs77911826 CA304510809 |
70 | H>P | No |
ClinGen Ensembl |
|
|
rs764661019 CA9104443 |
70 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761219608 CA9104442 |
71 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA403457029 rs1399825957 |
71 | R>H | No |
ClinGen TOPMed |
|
|
CA403456998 rs1425438449 |
73 | Y>C | No |
ClinGen gnomAD |
|
|
CA403456973 rs1387188762 |
75 | L>M | No |
ClinGen gnomAD |
|
|
CA9104415 rs372051981 |
77 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403488281 rs1355206407 |
77 | M>V | No |
ClinGen gnomAD |
|
|
CA9104414 rs780976744 |
79 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9104413 rs368332608 |
81 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403488220 rs746750232 |
81 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779854175 CA9104411 |
82 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403488213 rs1427227928 |
82 | R>L | No |
ClinGen gnomAD |
|
| TCGA novel | 82 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 83 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1200423206 CA403488182 |
84 | N>K | No |
ClinGen gnomAD |
|
|
rs1277695474 CA403488115 |
90 | E>G | No |
ClinGen TOPMed |
|
|
CA304557774 rs754052696 |
93 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9104409 rs754052696 |
93 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403488054 rs1599927478 |
95 | V>G | No |
ClinGen Ensembl |
|
|
CA403488050 rs778143273 |
96 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304557770 rs1013438253 |
96 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9104408 rs778143273 |
96 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756260732 CA9104407 |
97 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA403488023 rs1310837994 |
98 | E>A | No |
ClinGen gnomAD |
|
|
rs767892851 CA9104405 |
99 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA304557763 rs1033028027 |
99 | A>V | No |
ClinGen TOPMed |
|
|
CA403487985 rs1193559060 |
102 | L>P | No |
ClinGen TOPMed |
|
|
rs970286365 CA304557756 |
104 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs766684824 CA9104402 |
110 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA304557381 rs952801331 |
114 | A>T | No |
ClinGen Ensembl |
|
|
rs1026161257 CA304557379 |
115 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs994294799 CA304557377 |
115 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA403487480 rs994294799 |
115 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA403487475 rs1358771247 |
116 | P>R | No |
ClinGen gnomAD |
|
|
CA403487469 rs1292602627 |
117 | H>P | No |
ClinGen gnomAD |
|
|
rs764834395 CA9104378 |
117 | H>Y | No |
ClinGen ExAC |
|
|
CA403487432 rs144858766 |
123 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs144858766 CA9104377 |
123 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA304557368 rs1035902797 |
129 | R>K | No |
ClinGen Ensembl |
|
|
CA9104371 rs745637814 |
131 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9104370 rs774328255 |
133 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 134 | L>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 134 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs906121745 CA304557362 |
134 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1293666786 CA403487359 |
135 | G>R | No |
ClinGen gnomAD |
|
|
CA403487353 rs1187991299 |
136 | V>I | No |
ClinGen TOPMed |
|
|
CA403487339 rs1193951296 |
138 | G>S | No |
ClinGen TOPMed |
|
|
rs755021190 CA9104366 |
140 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA403487325 rs1599923746 |
140 | T>P | No |
ClinGen Ensembl |
|
|
CA304557353 rs74621187 |
141 | S>P | No |
ClinGen Ensembl |
|
|
rs575000255 CA403487309 |
142 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403487306 rs1599923653 |
143 | D>A | No |
ClinGen Ensembl |
|
|
CA9104364 rs377360311 |
143 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377360311 CA403487307 |
143 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9104363 rs750955808 |
146 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA9104361 rs765536850 |
147 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369327586 CA403487255 |
150 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 151 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403487228 rs1228460446 |
154 | Q>E | No |
ClinGen gnomAD |
|
|
rs753462809 CA9104359 |
154 | Q>R | No |
ClinGen ExAC |
|
|
CA9104357 rs200878232 |
155 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9104356 rs200878232 RCV000971338 |
155 | A>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA304557336 rs1048368471 |
157 | N>D | No |
ClinGen TOPMed |
|
|
rs1344874023 CA403487205 |
157 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9104355 rs775190631 |
157 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1301316799 CA403487201 |
158 | S>N | No |
ClinGen gnomAD |
|
|
rs1301316799 CA403487200 |
158 | S>T | No |
ClinGen gnomAD |
|
|
CA9104352 rs371118843 |
163 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9104351 rs201569823 |
163 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA304557328 rs371118843 |
163 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9104349 rs187492097 |
164 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403487163 rs1214113309 |
164 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1480394147 CA403487154 |
165 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9104344 rs746316516 |
166 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9104345 rs778385795 |
166 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9104346 rs778385795 |
166 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779291543 CA403487133 |
168 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757636505 CA9104342 |
169 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459304778 CA403487118 |
171 | M>V | No |
ClinGen gnomAD |
|
|
CA403487093 rs1202055467 |
172 | V>A | No |
ClinGen gnomAD |
|
|
rs746013408 CA9104327 |
173 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA403487091 rs1348529418 |
173 | S>P | No |
ClinGen gnomAD |
|
|
CA403487088 rs746013408 |
173 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA403487080 rs1240291951 |
175 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA403487079 rs1240291951 |
175 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9104326 rs779459195 |
177 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1475178988 CA403487057 |
178 | L>V | No |
ClinGen TOPMed |
|
|
CA9104324 rs749635368 |
182 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749635368 CA403487026 |
182 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs960147308 CA304557286 |
183 | Q>H | No |
ClinGen TOPMed |
|
|
CA403487014 rs1341383188 |
184 | C>S | No |
ClinGen gnomAD |
|
|
rs1341383188 CA403487015 |
184 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 185 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304557284 rs1035828922 |
186 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs756569406 CA9104322 |
188 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs12973068 CA304557281 |
191 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 195 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781000522 CA9104320 |
197 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9104319 rs183889297 |
198 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 198 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370568559 CA9104318 |
199 | A>D | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 199 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766306039 CA9104317 |
203 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA304557272 rs970274779 |
204 | I>N | No |
ClinGen Ensembl |
|
|
CA9104316 rs762757247 |
204 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9104315 rs750393698 |
205 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403486763 rs750393698 |
205 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9104314 rs764878303 |
206 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs761600246 CA9104313 |
207 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403486680 rs1355176955 |
208 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1599922706 CA403486606 |
210 | W>C | No |
ClinGen Ensembl |
|
|
CA403486589 rs1568322805 |
211 | V>A | No |
ClinGen Ensembl |
|
|
rs377140871 CA9104311 |
212 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs771075990 CA9104308 |
215 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9104309 rs372689637 |
215 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA304557257 rs1027065145 |
216 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs770220228 CA9104305 |
218 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA304557254 rs899853133 |
218 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9104304 rs748594482 |
219 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs373451371 CA9104302 |
220 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199621774 CA9104303 |
220 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746702415 CA9104301 |
221 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA403486353 rs1164759159 |
221 | R>W | No |
ClinGen gnomAD |
|
|
CA304557244 rs79643531 |
222 | L>V | No |
ClinGen Ensembl |
|
|
CA403485581 rs1341479705 |
230 | S>C | No |
ClinGen TOPMed |
|
|
rs770483816 CA403485570 |
231 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325550019 CA403485567 |
231 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9104288 rs770483816 |
231 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs944891525 CA304556900 |
233 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA403485516 rs1199643129 |
235 | D>E | No |
ClinGen TOPMed |
|
|
CA403485514 rs1322007791 |
236 | P>T | No |
ClinGen gnomAD |
|
|
rs748504646 CA9104287 |
237 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1369739628 CA403485466 |
239 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA403485449 rs1446317177 |
241 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9104285 rs769162859 |
245 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746580721 CA9104284 |
246 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA403485387 rs1466943995 |
247 | Q>* | No |
ClinGen gnomAD |
|
|
CA9104282 rs757840802 |
251 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403485343 rs757840802 |
251 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9104280 rs376076946 |
252 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs753804959 CA9104278 |
254 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438663513 CA403485301 |
254 | T>S | No |
ClinGen gnomAD |
|
|
rs1180147874 CA403485276 |
256 | Y>C | No |
ClinGen gnomAD |
|
|
rs1599919214 CA403485280 |
256 | Y>D | No |
ClinGen Ensembl |
|
|
CA403485243 rs1460232598 |
258 | W>C | No |
ClinGen gnomAD |
|
|
CA403485250 rs1454932565 |
258 | W>L | No |
ClinGen TOPMed |
|
|
rs1318712787 CA403485236 |
259 | C>* | No |
ClinGen TOPMed |
|
|
rs1417863817 CA403485242 |
259 | C>G | No |
ClinGen Ensembl |
|
|
rs1417863817 CA403485240 |
259 | C>R | No |
ClinGen Ensembl |
|
|
rs1364777955 CA403485232 |
260 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 261 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs991084301 CA304556879 |
262 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1237273570 CA403485215 |
263 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA403485177 rs1599919081 |
266 | G>R | No |
ClinGen Ensembl |
|
|
rs530162266 CA9104256 |
269 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403485060 rs1299565874 |
270 | L>F | No |
ClinGen gnomAD |
|
|
CA403485061 rs1299565874 |
270 | L>V | No |
ClinGen gnomAD |
|
|
CA9104255 rs780119235 |
271 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1367580137 CA403485046 |
271 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9104253 rs750693651 |
272 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367692337 CA9104251 |
274 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs889208791 CA304556732 |
279 | E>K | No |
ClinGen Ensembl |
|
|
rs764719635 CA9104249 |
281 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9104246 rs772353091 |
284 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA403484887 rs1424383422 |
284 | E>G | No |
ClinGen TOPMed |
|
|
rs544343349 CA9104247 |
284 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403484869 rs1599917448 |
285 | V>G | No |
ClinGen Ensembl |
|
|
rs1276088638 CA403484872 |
285 | V>L | No |
ClinGen gnomAD |
|
|
rs1276088638 CA403484878 |
285 | V>M | No |
ClinGen gnomAD |
|
|
rs1217924072 CA403484848 |
287 | V>I | No |
ClinGen gnomAD |
|
|
rs774008116 CA9104244 |
290 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748865282 CA9104242 |
293 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA9104240 rs769823118 |
294 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754740701 CA403484724 |
297 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs754740701 CA9104237 |
297 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 298 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9104236 rs148904342 RCV000949036 |
300 | T>M | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1599917222 CA403484649 |
302 | S>A | No |
ClinGen Ensembl |
|
|
CA9104233 rs754019888 |
302 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA403484625 rs1178936366 |
304 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9104231 rs756602514 |
304 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9104207 rs762557101 |
311 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs772765070 CA9104206 |
314 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA9104204 rs761292376 |
315 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9104205 rs764734047 |
315 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403484190 rs1599912359 |
317 | L>F | No |
ClinGen Ensembl |
|
|
rs1379767944 CA403484142 |
321 | E>K | No |
ClinGen gnomAD |
|
|
CA9104203 rs776614867 |
322 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs922077061 CA304556472 |
324 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA403484088 rs1441835135 |
324 | T>S | No |
ClinGen gnomAD |
|
|
CA403484081 rs1301747691 |
325 | D>N | No |
ClinGen TOPMed |
|
|
rs558288867 CA9104202 |
326 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1185193547 CA403484053 |
327 | Q>H | No |
ClinGen gnomAD |
|
|
CA9104201 rs746767401 |
328 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1256711214 CA403484034 |
329 | K>R | No |
ClinGen gnomAD |
|
| rs759316387 | 330 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9104182 rs759316387 |
330 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs775581400 CA9104183 |
330 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9104180 rs773472493 |
331 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769960853 CA9104179 |
332 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403483559 rs781211285 |
335 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9104177 rs781211285 |
335 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304555558 rs898350154 |
336 | K>R | No |
ClinGen TOPMed |
|
|
rs375413213 CA9104176 |
337 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780601488 CA9104174 |
339 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1486577324 CA403483488 |
340 | Q>H | No |
ClinGen TOPMed |
|
|
rs77657310 CA9104171 |
341 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs77657310 CA9104172 |
341 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9104170 rs756818985 |
344 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs74458791 CA304555536 |
346 | F>L | No |
ClinGen Ensembl |
|
|
rs1476068860 CA403483419 |
346 | F>Y | No |
ClinGen gnomAD |
|
|
rs763640243 CA9104168 |
347 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA304555530 rs372083683 |
348 | K>N | No |
ClinGen ESP TOPMed |
|
|
CA9104165 rs767623481 |
349 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1275402255 CA403483344 |
351 | Y>N | No |
ClinGen gnomAD |
|
|
rs774056853 CA403483327 |
352 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs774056853 CA9104163 |
352 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs546746898 CA9104161 |
353 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs981730364 CA304555510 |
355 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs747145791 CA9104158 |
356 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403483269 rs1599905410 |
357 | W>G | No |
ClinGen Ensembl |
|
|
rs756303433 CA9104156 |
359 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756303433 CA9104155 |
359 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9104157 rs780513739 |
359 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403483232 rs1356012413 |
360 | D>H | No |
ClinGen gnomAD |
|
|
rs1170985465 CA403483219 |
361 | G>S | No |
ClinGen gnomAD |
|
|
CA403483197 rs1251675245 |
362 | K>T | No |
ClinGen TOPMed |
|
| rs557457810 | 363 | Y>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1468377091 CA403483179 |
363 | Y>C | No |
ClinGen TOPMed |
|
|
CA403483185 rs757653358 |
363 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA9104153 rs757653358 |
363 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs774925863 CA9104137 |
364 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9104136 rs771196141 |
365 | W>* | No |
ClinGen ExAC |
|
|
CA403483011 rs1366394119 |
365 | W>R | No |
ClinGen TOPMed |
|
|
rs1376739042 CA403482987 |
366 | A>V | No |
ClinGen gnomAD |
|
|
CA9104135 rs541362049 |
367 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 371 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9104133 rs572225680 |
373 | Q>R | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 375 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1295882009 CA403482875 |
375 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1295882009 CA403482877 |
375 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1418686025 CA403482847 |
377 | Q>P | No |
ClinGen gnomAD |
|
|
rs1165213578 CA403482837 |
378 | L>V | No |
ClinGen gnomAD |
|
|
rs774865262 CA9104131 |
379 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403482808 rs1255292853 |
380 | L>P | No |
ClinGen gnomAD |
|
|
rs199500961 CA9104129 |
381 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403482799 rs1189248355 |
381 | L>P | No |
ClinGen gnomAD |
|
|
CA9104128 rs766393782 |
382 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750255934 CA9104126 |
383 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760835832 CA9104125 |
383 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760835832 CA9104124 |
383 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs747759328 | 383 | P>R | Variant assessed as Somatic; 5.907e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750255934 CA403482781 |
383 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403482770 rs1402390027 |
384 | A>S | No |
ClinGen TOPMed |
|
|
CA9104120 rs767428774 |
388 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767428774 CA403482718 |
388 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403482722 rs1319638510 |
388 | P>S | No |
ClinGen gnomAD |
|
|
CA403482724 rs1319638510 |
388 | P>T | No |
ClinGen gnomAD |
|
|
rs148018996 CA9104117 |
391 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9104115 rs773673931 |
393 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9104116 rs749641050 |
393 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9104113 rs747747951 |
396 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA403482609 rs1349656328 |
396 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA403482603 rs557501892 |
397 | L>I | No |
ClinGen 1000Genomes gnomAD |
|
|
CA9104111 rs567533817 |
398 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA403482592 rs780905638 |
398 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs780905638 CA9104112 |
398 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1288438070 CA403482564 |
400 | A>V | No |
ClinGen TOPMed |
|
|
CA9104110 rs746573723 |
402 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA403482520 rs1488317289 |
404 | P>S | No |
ClinGen gnomAD |
|
|
CA403482477 rs1599900183 |
407 | V>A | No |
ClinGen Ensembl |
|
|
CA9104108 rs758289209 |
409 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9104106 rs377064359 |
410 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9104104 rs757048687 |
414 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304554794 rs769990617 |
416 | V>D | No |
ClinGen Ensembl |
|
|
rs974622702 CA304554796 |
416 | V>F | No |
ClinGen Ensembl |
|
|
rs751701689 CA9104100 |
419 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs968148059 CA304554535 |
423 | V>G | No |
ClinGen Ensembl |
|
|
rs200193869 CA9104067 |
423 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9104066 rs747191146 |
424 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403481771 rs747191146 |
424 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418069794 CA631717057 |
425 | D>R* | No |
ClinGen gnomAD |
|
|
rs756881639 CA304554529 |
430 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9104064 rs758543624 |
431 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1365336720 CA403481617 |
432 | Q>* | No |
ClinGen gnomAD |
|
|
rs549939671 CA403481605 |
432 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1376812319 CA403481570 |
434 | E>D | No |
ClinGen TOPMed |
|
|
rs1568313364 CA403481584 |
434 | E>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 435 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760332782 CA9104061 |
438 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9104060 rs760332782 |
438 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs532896006 CA9104059 |
443 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs182103254 CA9104058 |
443 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 443 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs182103254 CA403481384 |
443 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767206166 CA9104056 |
444 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9104055 rs759016287 |
445 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs200292042 CA9104054 |
445 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs956480506 CA304554503 |
448 | K>N | No |
ClinGen TOPMed |
|
|
rs547422704 CA9104053 |
448 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1599898311 CA403481231 |
449 | T>P | No |
ClinGen Ensembl |
|
|
CA9104051 rs527299096 |
450 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1599898265 CA403481119 |
453 | H>P | No |
ClinGen Ensembl |
|
|
CA9104050 rs769630019 |
455 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs747956117 CA9104049 |
457 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA304554491 rs943100305 |
458 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 458 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs943100305 CA403481026 |
458 | T>P | No |
ClinGen Ensembl |
|
|
CA403481019 rs1161285145 |
459 | A>T | No |
ClinGen gnomAD |
|
|
rs201879683 CA9104045 |
460 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403480979 rs1167056717 |
461 | L>F | No |
ClinGen gnomAD |
|
|
rs757287079 CA9104044 |
462 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs754364162 CA9104043 |
463 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs969051828 CA304554476 |
465 | G>D | No |
ClinGen TOPMed |
|
|
CA403480830 rs1439738491 |
467 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 468 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 468 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403480798 rs1265674054 |
468 | W>R | No |
ClinGen gnomAD |
|
| TCGA novel | 470 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403480716 rs1213402079 |
471 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs368560611 CA9104041 |
473 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403480656 rs1217348469 |
473 | S>I | No |
ClinGen gnomAD |
|
|
CA403480650 rs1568313106 |
474 | P>T | No |
ClinGen Ensembl |
|
|
CA9104038 rs767624205 |
475 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1433117704 CA403480577 |
477 | D>N | No |
ClinGen gnomAD |
|
|
rs1280022227 CA403479838 |
478 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 479 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9104002 rs781705022 |
479 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs201281354 CA9104001 |
480 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374242533 CA9104000 |
483 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 484 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1400449609 CA403479760 |
484 | K>R | No |
ClinGen gnomAD |
|
|
rs1409199149 CA403479742 |
486 | E>D | No |
ClinGen gnomAD |
|
|
CA9103998 rs565508989 |
492 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA304548414 rs200582481 |
495 | E>D | No |
ClinGen Ensembl |
|
|
rs1188816117 CA403479603 |
498 | A>P | No |
ClinGen gnomAD |
|
|
rs750099293 CA9103997 |
498 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs764596771 CA403479570 |
500 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403479559 rs1284745506 |
501 | G>A | No |
ClinGen gnomAD |
|
|
CA9103995 rs369548727 |
501 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1599888391 CA403479553 |
502 | S>P | No |
ClinGen Ensembl |
|
|
CA403479398 rs1439072511 |
505 | W>* | No |
ClinGen gnomAD |
|
|
rs535658718 CA403479342 |
509 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9103982 rs535658718 |
509 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403479223 rs947135926 |
518 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA304547731 rs947135926 |
518 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs747569128 CA9103981 |
519 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1252198212 CA403479203 |
521 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1469818563 CA403479197 |
522 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs866523244 CA304547711 |
525 | H>N | No |
ClinGen Ensembl |
|
|
rs1307567962 CA403479179 |
525 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs375897300 CA9103977 |
529 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1304712916 CA403479135 |
531 | S>R | No |
ClinGen gnomAD |
|
|
CA304547693 rs866258878 |
533 | E>* | No |
ClinGen Ensembl |
|
|
CA304547684 rs756798282 CA9103976 |
533 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA9103975 rs371321033 |
534 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371321033 CA403479117 |
534 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1462526387 CA403479116 |
535 | A>T | No |
ClinGen gnomAD |
|
|
rs370177829 CA304547664 |
536 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370177829 CA9103972 |
536 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403479100 rs1408322823 |
537 | E>D | No |
ClinGen TOPMed |
|
|
RCV000890585 CA9103971 rs200229921 |
537 | E>K | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs187567734 CA9103969 |
539 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202052088 CA9103968 |
540 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599885263 CA403479075 |
542 | T>P | No |
ClinGen Ensembl |
|
|
CA9103966 rs201223662 |
543 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368337277 CA304547618 |
544 | P>S | No |
ClinGen ESP gnomAD |
|
|
rs776126093 CA9103963 |
545 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs747420703 CA9103964 |
545 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392528708 CA403479042 |
548 | H>Y | No |
ClinGen gnomAD |
|
|
CA403479033 rs1375584889 |
549 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1376227923 CA403479001 |
551 | S>F | No |
ClinGen gnomAD |
|
|
CA403479008 rs1434325066 |
551 | S>T | No |
ClinGen gnomAD |
|
|
CA403478987 rs1467349623 |
552 | M>I | No |
ClinGen gnomAD |
|
|
CA403478994 rs1211230096 |
552 | M>T | No |
ClinGen TOPMed |
|
|
CA304547593 rs1026379140 |
552 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs200794192 CA403478578 CA403478581 |
556 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9103931 rs764418444 |
557 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs373924224 CA304547112 |
557 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9103929 rs752774263 |
558 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA403478535 rs1474147850 |
559 | F>L | No |
ClinGen gnomAD |
|
|
CA403478530 rs1372073048 |
559 | F>S | No |
ClinGen gnomAD |
|
|
CA9103926 rs775010899 |
560 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs760022607 CA9103927 |
560 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760022607 CA403478514 |
560 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763475631 CA9103923 |
563 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304547089 rs371079050 |
566 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA403478383 rs1230952270 |
567 | S>G | No |
ClinGen gnomAD |
|
|
CA9103920 rs747775957 |
568 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9103918 rs202221985 |
569 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780037017 CA9103916 |
570 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1031910572 CA304547050 |
572 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9103914 rs750270299 |
573 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403478288 rs1168111742 |
573 | H>Y | No |
ClinGen gnomAD |
|
|
CA9103913 rs369918302 |
574 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1180316828 CA403478190 |
578 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs755165617 CA9103910 |
579 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs755165617 CA9103909 |
579 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA403478156 rs1207553652 |
580 | P>R | No |
ClinGen gnomAD |
|
|
CA9103906 rs773659670 |
581 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279896779 CA403478151 |
581 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs375568437 CA304547029 |
582 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs372503424 CA9103903 |
583 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs556545434 CA9103902 |
586 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9103900 rs540027595 |
587 | K>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403478048 rs540027595 |
587 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9103899 rs775387762 |
589 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9103896 rs369048539 |
590 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9103895 rs371771786 |
590 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369048539 CA9103897 |
590 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA304546983 rs1027464775 |
592 | W>L | No |
ClinGen Ensembl |
|
|
CA304546980 rs1003234079 |
593 | A>V | No |
ClinGen TOPMed |
|
|
CA403477914 rs1599883147 |
595 | M>K | No |
ClinGen Ensembl |
|
| TCGA novel | 595 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9103893 rs781335534 |
598 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA9103864 rs767001811 |
602 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA304545094 rs367776292 |
603 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs367776292 CA403477181 |
603 | P>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1460371446 CA403477176 |
604 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA403477160 rs1284075085 |
605 | Y>C | No |
ClinGen Ensembl |
|
|
CA304545082 rs1042334585 |
606 | V>I | No |
ClinGen Ensembl |
|
|
rs770820179 CA9103860 |
607 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1330628792 CA403477131 |
608 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 609 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403477117 rs1425641908 |
610 | I>L | No |
ClinGen gnomAD |
|
|
rs1417590611 CA403477108 |
610 | I>M | No |
ClinGen gnomAD |
|
|
rs1325655803 CA403477086 |
612 | H>R | No |
ClinGen gnomAD |
|
|
CA9103858 rs773098991 |
614 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA403477048 rs769713443 |
615 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9103857 rs769713443 |
615 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772251728 CA9103854 |
616 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745988138 CA9103853 |
616 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9103851 rs757668756 |
617 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9103849 rs778055865 |
618 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA403477024 rs778055865 |
618 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs756529753 CA9103848 |
619 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9103846 rs767196248 |
620 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9103847 rs187881686 |
620 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA9103844 rs377267396 |
623 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1451684922 CA403476944 |
625 | I>M | No |
ClinGen TOPMed |
|
|
CA403476947 rs1290538359 |
625 | I>T | No |
ClinGen TOPMed |
|
|
rs1169972742 CA403476936 |
626 | Y>C | No |
ClinGen gnomAD |
|
|
rs762729074 CA9103842 |
629 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762729074 CA403476902 |
629 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200204294 CA9103840 |
630 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9103839 rs761742884 |
631 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390215526 CA403476855 |
634 | G>R | No |
ClinGen TOPMed |
|
|
CA403476847 rs1568305074 |
635 | K>E | No |
ClinGen Ensembl |
|
|
rs1249150226 CA403476815 |
637 | H>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 639 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9103837 rs772138491 |
640 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA403476760 rs1251782071 |
643 | V>A | No |
ClinGen gnomAD |
|
|
CA403476749 rs1232503711 |
644 | Y>C | No |
ClinGen gnomAD |
|
|
CA403476753 rs1276349342 |
644 | Y>H | No |
ClinGen gnomAD |
|
|
rs778792324 CA9103835 |
646 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs771057460 CA9103834 |
647 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1310881290 CA403476160 |
654 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 654 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769201161 CA9103745 |
658 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA403476114 rs769201161 |
658 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA403476116 rs769201161 |
658 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA304544323 rs900698711 |
659 | I>M | No |
ClinGen TOPMed |
|
|
CA403476105 rs1385789870 |
659 | I>T | No |
ClinGen gnomAD |
|
|
rs1470953255 CA403476109 |
659 | I>V | No |
ClinGen gnomAD |
|
|
CA403476093 rs1157688272 |
660 | K>R | No |
ClinGen gnomAD |
|
|
CA403476057 rs1185027452 |
663 | R>P | No |
ClinGen gnomAD |
|
|
CA403476058 rs1185027452 |
663 | R>Q | No |
ClinGen gnomAD |
|
|
rs1309548680 CA403476062 |
663 | R>W | No |
ClinGen TOPMed |
|
|
rs781170174 CA9103743 |
664 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA403475975 rs1599872616 |
670 | L>P | No |
ClinGen Ensembl |
|
|
rs1352958505 CA403475961 |
672 | Y>H | No |
ClinGen gnomAD |
|
|
rs1244387848 CA403475945 |
673 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA304544305 rs988851117 |
673 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403475928 rs1454388053 |
674 | V>M | No |
ClinGen gnomAD |
|
|
CA9103735 rs753225029 |
678 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 679 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9103733 rs779275444 |
679 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA403475861 rs1239169727 |
680 | R>G | No |
ClinGen TOPMed |
|
|
CA9103731 rs766853244 |
683 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA403475795 rs1165785000 |
685 | R>* | No |
ClinGen gnomAD |
|
|
CA9103730 rs762607858 |
685 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1568303545 CA403475770 |
687 | L>R | No |
ClinGen Ensembl |
|
|
rs376288275 CA9103728 |
688 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9103729 rs369304364 |
688 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403475744 rs1357247710 |
690 | E>K | No |
ClinGen gnomAD |
|
|
rs1294262155 CA403475716 |
692 | A>D | No |
ClinGen gnomAD |
|
|
rs746955840 CA9103724 |
694 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9103723 rs779769336 |
696 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403475430 rs1487234500 |
700 | V>M | No |
ClinGen gnomAD |
|
|
CA9103660 rs747283407 |
702 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs530092089 CA304543491 |
703 | E>A | No |
ClinGen Ensembl |
|
|
rs1273003179 CA403475365 |
703 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1228140006 CA403475293 |
707 | E>D | No |
ClinGen gnomAD |
|
|
CA403475269 rs1298412722 |
710 | Q>E | No |
ClinGen gnomAD |
|
|
rs775362476 CA403475248 |
711 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9103658 rs772255206 |
712 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403475227 rs1284158597 |
713 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 713 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs887792980 CA304543469 |
714 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA403475183 rs1305884740 |
715 | K>R | No |
ClinGen gnomAD |
|
|
CA403475125 rs1461324206 |
718 | F>L | No |
ClinGen gnomAD |
|
|
rs1430915894 CA403475046 |
722 | S>R | No |
ClinGen gnomAD |
|
|
rs1199678192 CA403475023 |
723 | R>* | No |
ClinGen gnomAD |
|
|
CA403475012 rs1481179508 |
724 | V>A | No |
ClinGen gnomAD |
|
|
rs868599329 CA304543459 |
725 | A>V | No |
ClinGen Ensembl |
|
|
CA9103654 rs749605958 |
726 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA403474972 rs1195549593 |
727 | H>R | No |
ClinGen gnomAD |
|
|
CA9103653 rs778143451 |
731 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA9103651 rs752410065 |
732 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311667301 CA403474908 |
732 | G>V | No |
ClinGen gnomAD |
|
|
rs1599868324 CA403474899 |
733 | G>A | No |
ClinGen Ensembl |
|
|
rs1263772236 CA403474906 |
733 | G>S | No |
ClinGen gnomAD |
|
|
rs766468762 CA9103647 |
738 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304543406 rs771237993 |
738 | M>V | No |
ClinGen Ensembl |
|
|
CA403474774 rs1390585909 |
743 | K>T | No |
ClinGen gnomAD |
|
|
CA403474745 rs1299804932 |
745 | Q>H | No |
ClinGen gnomAD |
|
|
CA403474710 rs1405275467 |
748 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA403473489 rs1243762595 |
750 | A>S | No |
ClinGen gnomAD |
|
|
rs141294259 CA9103558 |
751 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9103556 rs750622800 |
752 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA403473438 rs1354204938 |
752 | A>V | No |
ClinGen gnomAD |
|
|
CA403473374 rs1381966311 |
755 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 757 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304542600 rs761296885 |
758 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9103551 rs761296885 |
758 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403473284 rs1287965402 |
759 | W>* | No |
ClinGen gnomAD |
|
|
CA9103549 rs768010788 |
760 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775930904 CA9103550 |
760 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs770446497 CA9103546 |
763 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA403473192 rs1206017353 |
766 | Y>D | No |
ClinGen gnomAD |
|
|
rs1206017353 CA403473194 |
766 | Y>H | No |
ClinGen gnomAD |
|
|
rs1488488335 CA403473176 |
767 | T>S | No |
ClinGen gnomAD |
|
|
rs1455119453 CA403473162 |
768 | E>D | No |
ClinGen gnomAD |
|
|
CA403473154 rs1287824953 |
769 | R>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 771 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304542542 rs930462490 |
772 | D>E | No |
ClinGen Ensembl |
|
|
CA304542520 rs1036220461 |
773 | V>A | No |
ClinGen Ensembl |
|
|
CA9103543 rs772798495 |
773 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 774 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1358597154 CA403473086 |
774 | P>S | No |
ClinGen gnomAD |
|
|
rs748078465 CA304542508 |
776 | N>K | No |
ClinGen ExAC |
|
|
rs769675451 CA9103542 |
776 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768496647 CA9103540 |
779 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304542478 rs1021615821 |
780 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs376453990 CA304542469 |
781 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs1341994547 CA403472971 |
782 | E>D | No |
ClinGen gnomAD |
|
|
rs373425668 CA9103538 |
783 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373425668 CA403472966 |
783 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1301631276 CA403472969 |
783 | A>T | No |
ClinGen gnomAD |
|
|
CA403472963 rs373425668 |
783 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1460528563 CA403472940 |
786 | V>M | No |
ClinGen gnomAD |
|
|
CA403472920 rs1372638835 |
787 | A>V | No |
ClinGen gnomAD |
|
|
rs200615314 CA9103532 |
790 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9103531 rs200615314 |
790 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1424512934 CA403472825 |
792 | K>N | No |
ClinGen gnomAD |
|
|
CA304542425 rs907365540 |
795 | N>K | No |
ClinGen TOPMed |
|
|
rs1455496791 CA403471018 |
798 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 799 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1345299819 CA403470930 |
800 | L>F | No |
ClinGen gnomAD |
|
|
rs925288360 CA304539894 |
801 | L>V | No |
ClinGen TOPMed |
|
|
rs376836687 CA9103509 |
803 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1339203473 CA403470772 |
805 | G>R | No |
ClinGen TOPMed |
|
|
CA403470579 rs1568297918 |
811 | V>L | No |
ClinGen Ensembl |
|
| TCGA novel | 811 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1375349384 CA403470498 |
813 | F>C | No |
ClinGen Ensembl |
|
| TCGA novel | 814 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764721449 CA9103508 |
815 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA9103506 rs776525922 |
817 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403470403 rs1468450622 |
818 | F>I | No |
ClinGen gnomAD |
|
|
rs760668380 CA9103504 |
818 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA9103501 rs371363097 |
820 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9103502 rs371363097 |
820 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1458429525 CA403470343 |
821 | S>Y | No |
ClinGen gnomAD |
|
|
CA304539848 rs989042605 |
824 | I>F | No |
ClinGen Ensembl |
|
|
rs1442604304 CA403470261 |
825 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 826 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403470217 rs769974053 CA9103499 |
827 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 830 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9103498 rs748192162 |
830 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA403469077 rs1432582537 |
835 | Y>C | No |
ClinGen gnomAD |
|
|
rs1396626468 CA403469060 |
836 | P>R | No |
ClinGen TOPMed |
|
|
rs953140528 CA304537710 |
837 | N>D | No |
ClinGen TOPMed |
|
|
CA403469048 rs1318818287 |
837 | N>S | No |
ClinGen gnomAD |
|
|
CA403468992 rs1373870089 |
841 | S>C | No |
ClinGen TOPMed |
|
|
CA9103466 rs755693930 |
843 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs981667065 CA304537703 |
844 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA304537697 rs1028827933 |
845 | P>S | No |
ClinGen gnomAD |
|
|
CA403468919 rs1351575585 |
846 | E>* | No |
ClinGen gnomAD |
|
|
CA403468923 rs1351575585 |
846 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs994673929 CA304537688 |
848 | G>S | No |
ClinGen gnomAD |
|
|
rs1233396437 CA403468900 |
848 | G>V | No |
ClinGen TOPMed |
|
|
rs1423851464 CA403468893 |
849 | E>G | No |
ClinGen gnomAD |
|
|
CA403468897 rs1464692762 |
849 | E>K | No |
ClinGen gnomAD |
|
|
rs1172450783 CA403468875 |
851 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1479652400 CA403468870 |
852 | E>* | No |
ClinGen gnomAD |
|
|
CA403468836 rs1192147069 |
854 | T>A | No |
ClinGen gnomAD |
|
|
CA403468829 rs1489732749 |
854 | T>R | No |
ClinGen gnomAD |
|
|
CA403468758 rs1315502211 |
859 | L>V | No |
ClinGen TOPMed |
|
|
CA403468750 rs1458304309 |
860 | Q>K | No |
ClinGen gnomAD |
|
|
rs766288777 CA403468707 |
862 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs766288777 CA9103461 |
862 | Y>S | No |
ClinGen ExAC gnomAD |
No associated diseases with Q86TI2
No regional properties for Q86TI2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q86TI2 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 3.4.14.5 | Dipeptidyl-peptidases and tripeptidyl-peptidases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell leading edge | The area of a motile cell closest to the direction of movement. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
| 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| aminopeptidase activity | Catalysis of the hydrolysis of a single N-terminal amino acid residue from a polypeptide chain. |
| dipeptidyl-peptidase activity | Catalysis of the hydrolysis of N-terminal dipeptides from a polypeptide chain. |
| identical protein binding | Binding to an identical protein or proteins. |
| serine-type peptidase activity | Catalysis of the hydrolysis of peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| proteolysis | The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. |
| pyroptosis | A caspase-1-dependent cell death subroutine that is associated with the generation of pyrogenic mediators such as IL-1beta and IL-18. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATTGTPTAD | RGDAAATDDP | AARFQVQKHS | WDGLRSIIHG | SRKYSGLIVN | KAPHDFQFVQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KTDESGPHSH | RLYYLGMPYG | SRENSLLYSE | IPKKVRKEAL | LLLSWKQMLD | HFQATPHHGV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YSREEELLRE | RKRLGVFGIT | SYDFHSESGL | FLFQASNSLF | HCRDGGKNGF | MVSPMKPLEI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KTQCSGPRMD | PKICPADPAF | FSFINNSDLW | VANIETGEER | RLTFCHQGLS | NVLDDPKSAG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VATFVIQEEF | DRFTGYWWCP | TASWEGSEGL | KTLRILYEEV | DESEVEVIHV | PSPALEERKT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DSYRYPRTGS | KNPKIALKLA | EFQTDSQGKI | VSTQEKELVQ | PFSSLFPKVE | YIARAGWTRD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GKYAWAMFLD | RPQQWLQLVL | LPPALFIPST | ENEEQRLASA | RAVPRNVQPY | VVYEEVTNVW |
| 430 | 440 | 450 | 460 | 470 | 480 |
| INVHDIFYPF | PQSEGEDELC | FLRANECKTG | FCHLYKVTAV | LKSQGYDWSE | PFSPGEDEFK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| CPIKEEIALT | SGEWEVLARH | GSKIWVNEET | KLVYFQGTKD | TPLEHHLYVV | SYEAAGEIVR |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LTTPGFSHSC | SMSQNFDMFV | SHYSSVSTPP | CVHVYKLSGP | DDDPLHKQPR | FWASMMEAAS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| CPPDYVPPEI | FHFHTRSDVR | LYGMIYKPHA | LQPGKKHPTV | LFVYGGPQVQ | LVNNSFKGIK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| YLRLNTLASL | GYAVVVIDGR | GSCQRGLRFE | GALKNQMGQV | EIEDQVEGLQ | FVAEKYGFID |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LSRVAIHGWS | YGGFLSLMGL | IHKPQVFKVA | IAGAPVTVWM | AYDTGYTERY | MDVPENNQHG |
| 790 | 800 | 810 | 820 | 830 | 840 |
| YEAGSVALHV | EKLPNEPNRL | LILHGFLDEN | VHFFHTNFLV | SQLIRAGKPY | QLQIYPNERH |
| 850 | 860 | ||||
| SIRCPESGEH | YEVTLLHFLQ | EYL |