Q86XP1
PR
Gene name |
DGKH |
Protein name |
Diacylglycerol kinase eta |
Names |
DAG kinase eta, Diglyceride kinase eta, DGK-eta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:160851 |
EC number |
2.7.1.107: Phosphotransferases with an alcohol group as acceptor |
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 Q86XP1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q86XP1-F1 | Predicted | AlphaFoldDB |
808 variants for Q86XP1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA388008113 rs1236870143 |
2 | A>V | No |
ClinGen TOPMed |
|
|
rs924865669 CA249021315 |
4 | A>S | No |
ClinGen TOPMed |
|
|
CA388008124 rs1230456387 |
4 | A>V | No |
ClinGen gnomAD |
|
|
rs1248971573 CA388008125 |
5 | G>R | No |
ClinGen TOPMed |
|
|
CA249021317 rs1051042427 |
7 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6964905 rs115825639 |
7 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA249021318 rs912450370 |
8 | H>N | No |
ClinGen Ensembl |
|
|
CA249021319 rs942531075 |
8 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA388008155 rs1247547088 |
9 | H>Q | No |
ClinGen TOPMed |
|
|
rs1285305551 CA388008152 |
9 | H>R | No |
ClinGen TOPMed |
|
|
CA6964906 rs763716010 |
9 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA388008166 rs1307491610 |
11 | P>L | No |
ClinGen TOPMed |
|
|
CA249021320 rs948836414 |
11 | P>S | No |
ClinGen TOPMed |
|
|
rs1301485056 CA388008167 |
12 | G>S | No |
ClinGen TOPMed |
|
|
CA6964908 rs757006846 |
14 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6964909 rs538132992 |
15 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1247865848 CA388008197 |
17 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6964912 rs779646121 |
20 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372202533 CA6964914 |
21 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776903757 CA6964918 |
26 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776903757 CA388008250 |
26 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6964919 rs759888662 |
27 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1593946232 CA388008253 |
27 | S>P | No |
ClinGen Ensembl |
|
|
rs770205147 CA6964920 |
28 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs763583202 CA249021322 |
30 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6964922 rs763583202 |
30 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 32 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388008295 rs1275914278 |
34 | P>L | No |
ClinGen gnomAD |
|
|
rs1233735111 CA388008301 |
35 | G>E | No |
ClinGen gnomAD |
|
|
CA388008316 rs1349155247 |
37 | D>E | No |
ClinGen TOPMed |
|
|
CA388008321 rs1323934085 |
38 | S>* | No |
ClinGen TOPMed |
|
| TCGA novel | 38 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761392862 CA6964925 |
39 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA6964924 rs751162443 |
39 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6964926 rs767142235 |
41 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6964927 rs750093554 |
41 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA6964929 rs779921510 |
45 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754949867 CA6964931 |
48 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA249021325 rs754949867 |
48 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1004129910 CA249021326 |
50 | K>Q | No |
ClinGen TOPMed |
|
|
CA6964934 rs373562177 |
51 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs905418442 CA249021327 |
56 | S>F | No |
ClinGen Ensembl |
|
|
rs781070584 CA6964935 |
57 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs746120069 CA6964936 |
61 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1477487146 CA388008472 |
62 | R>G | No |
ClinGen TOPMed |
|
|
CA6964937 rs146767281 |
62 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758216608 CA6964952 |
65 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA248512341 rs1344286 |
65 | T>P | No |
ClinGen Ensembl |
|
|
CA387956564 rs758216608 |
65 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1594063304 CA387956567 |
66 | S>G | No |
ClinGen Ensembl |
|
|
CA248512344 rs796380805 |
69 | E>G | No |
ClinGen gnomAD |
|
|
rs1566115523 CA387956605 |
71 | Q>R | No |
ClinGen Ensembl |
|
|
rs1274504289 CA387956613 |
72 | L>P | No |
ClinGen TOPMed |
|
|
rs1392933212 CA387956617 |
73 | L>W | No |
ClinGen gnomAD |
|
|
rs745902521 CA6964954 |
74 | K>E | No |
ClinGen ExAC |
|
|
CA6964955 rs756406141 |
77 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387956678 rs1376161604 |
81 | R>S | No |
ClinGen gnomAD |
|
|
rs1237835183 CA387956687 |
82 | W>C | No |
ClinGen gnomAD |
|
|
rs1282628642 CA387956705 |
85 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201753254 CA248512354 |
85 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA248512357 rs201753254 |
85 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs140398882 CA6964956 |
87 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1209422345 CA387956719 |
87 | F>S | No |
ClinGen gnomAD |
|
|
rs181300382 CA6964957 |
88 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387956730 rs1237921985 |
89 | L>F | No |
ClinGen gnomAD |
|
|
rs9566925 CA248512372 |
90 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA387956736 rs1402257049 |
90 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6964958 rs769146516 |
91 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs774798310 CA6964959 |
92 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6964960 rs150403121 |
92 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA387956747 rs150403121 |
92 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772419889 CA6964962 |
94 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA387956768 rs1357131126 |
96 | Y>H | No |
ClinGen gnomAD |
|
|
CA6964963 rs772820872 |
96 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA387956795 rs1298578991 |
99 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6964964 rs760083087 |
101 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA387956860 rs1175121914 |
105 | F>L | No |
ClinGen gnomAD |
|
|
rs1414224455 CA387956904 |
108 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 108 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA248513583 rs892655458 |
110 | L>I | No |
ClinGen Ensembl |
|
|
rs907252013 CA248513600 |
111 | S>A | No |
ClinGen TOPMed |
|
|
CA6964990 rs757633616 |
118 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764156778 CA6964991 |
120 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs752636069 CA248513637 |
121 | K>R | No |
ClinGen Ensembl |
|
|
rs1385494949 CA387957151 |
124 | N>D | No |
ClinGen TOPMed |
|
|
CA6964993 rs761751855 |
126 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387960052 rs1594108422 |
130 | I>V | No |
ClinGen Ensembl |
|
|
CA6965014 rs765623382 |
131 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs759677142 CA387960073 |
131 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759677142 CA6965013 |
131 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6965018 rs3208827 |
133 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387960169 rs1441473847 |
135 | R>S | No |
ClinGen gnomAD |
|
|
CA387960194 rs1207840049 |
137 | M>K | No |
ClinGen gnomAD |
|
|
CA6965019 rs757806841 |
138 | L>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 141 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769296210 CA6965022 |
143 | R>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 145 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 146 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387960319 rs1290907050 |
146 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 147 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387960391 rs1455647121 |
150 | I>M | No |
ClinGen gnomAD |
|
|
rs748914823 CA6965024 |
151 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6965026 rs774054672 |
153 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1223908384 CA387960426 |
153 | L>P | No |
ClinGen TOPMed |
|
|
rs1331346951 CA387960437 |
154 | K>T | No |
ClinGen gnomAD |
|
|
CA387960446 rs1401509137 |
155 | S>T | No |
ClinGen gnomAD |
|
|
CA387960451 rs1315137988 |
155 | S>Y | No |
ClinGen TOPMed |
|
|
rs1373754847 CA387960478 |
157 | Q>R | No |
ClinGen gnomAD |
|
|
rs1274925602 CA387960498 |
159 | R>G | No |
ClinGen gnomAD |
|
|
CA387960506 rs1343905561 |
159 | R>T | No |
ClinGen gnomAD |
|
|
CA6965029 rs754475056 |
161 | P>F | No |
ClinGen ExAC |
|
|
CA6965031 rs760625960 |
161 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA248530524 rs773279659 |
161 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773279659 CA6965030 |
161 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6965033 rs765248663 |
162 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs765248663 CA6965032 |
162 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs956573742 CA248530713 |
164 | V>E | No |
ClinGen TOPMed |
|
|
CA387960550 rs1449944420 |
164 | V>M | No |
ClinGen gnomAD |
|
|
rs1594109255 CA387960559 |
165 | A>V | No |
ClinGen Ensembl |
|
|
rs368631270 CA6965048 |
166 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772129158 CA6965047 |
166 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1594109266 CA387960562 |
166 | Q>P | No |
ClinGen Ensembl |
|
|
rs746775394 CA6965049 |
170 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763254069 CA6965052 |
178 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs774412881 CA6965054 |
180 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6965056 rs767991654 |
184 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387960698 rs1423213905 |
185 | R>Q | No |
ClinGen TOPMed |
|
|
rs756431628 CA6965058 |
187 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1566139142 CA387960717 |
188 | F>C | No |
ClinGen Ensembl |
|
|
CA387960737 rs753372667 |
191 | V>L | No |
ClinGen ExAC gnomAD |
|
|
COSM469443 rs753372667 CA6965060 |
191 | V>M | kidney Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs754662217 CA6965062 |
194 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 194 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1345516910 | 196 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377267510 CA6965063 |
197 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA387960795 rs1594109428 |
200 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 201 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387960809 rs777819084 |
202 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777819084 CA6965065 |
202 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 206 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752435548 CA6965089 |
209 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA387962043 rs1200276798 |
209 | C>R | No |
ClinGen gnomAD |
|
|
CA387962093 rs1179848706 |
210 | K>* | No |
ClinGen gnomAD |
|
|
CA387962090 rs1179848706 |
210 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 211 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA248533302 rs763064310 |
212 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA387962171 rs1178808530 |
214 | H>Y | No |
ClinGen gnomAD |
|
|
rs1408523669 CA387962204 |
215 | K>R | No |
ClinGen gnomAD |
|
|
rs1360605153 CA387962263 |
218 | A>S | No |
ClinGen gnomAD |
|
|
CA6965094 rs200446942 |
219 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6965095 rs200446942 |
219 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777443188 CA6965093 |
219 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1399826636 CA387962310 |
220 | R>K | No |
ClinGen gnomAD |
|
|
CA387962325 rs1448671188 |
221 | A>T | No |
ClinGen gnomAD |
|
|
CA387962336 rs781052180 |
222 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781052180 CA6965096 |
222 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387962351 rs1375989305 |
223 | N>D | No |
ClinGen gnomAD |
|
|
CA387962374 rs1267393991 |
224 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 226 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs985555272 CA248533327 |
226 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 229 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6965097 rs139117984 |
229 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769518173 CA6965098 |
231 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6965099 rs373750070 |
233 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6965101 CA248533383 rs772080918 |
234 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772080918 CA387962564 |
234 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387962589 rs1367644869 |
236 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6965102 rs773284430 |
237 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1046455476 CA248533391 |
238 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 240 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs59790803 CA248533405 |
242 | D>N | No |
ClinGen Ensembl |
|
|
CA6965103 rs760731872 |
242 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1260512603 | 244 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6965121 rs770954723 |
245 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145824794 CA6965122 |
245 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387962860 rs1594116840 |
248 | H>P | No |
ClinGen Ensembl |
|
|
rs775996653 CA6965127 |
250 | W>C | No |
ClinGen ExAC |
|
|
CA387962890 rs1208699990 |
250 | W>G | No |
ClinGen TOPMed |
|
|
CA387962888 rs1208699990 |
250 | W>R | No |
ClinGen TOPMed |
|
|
CA6965128 rs200670152 |
252 | E>* | No |
ClinGen ExAC |
|
| TCGA novel | 252 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6965130 rs763818773 |
252 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6965129 rs763818773 |
252 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs534054205 CA6965133 |
254 | N>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6965135 rs766369723 |
256 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA248534014 rs970979330 |
262 | A>V | No |
ClinGen Ensembl |
|
|
CA6965138 rs143249155 |
263 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387963176 rs1288925726 |
265 | D>N | No |
ClinGen gnomAD |
|
|
rs1193970477 CA387963266 |
269 | G>V | No |
ClinGen gnomAD |
|
|
rs1261931316 CA387963278 |
270 | S>N | No |
ClinGen gnomAD |
|
|
CA387963314 rs1594117136 |
272 | L>F | No |
ClinGen Ensembl |
|
|
rs757309834 CA6965140 COSM1203451 |
273 | R>C | lung large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs370149879 COSM256754 CA248534032 |
273 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA gnomAD |
|
rs1423141733 CA387963361 |
275 | Q>* | No |
ClinGen gnomAD |
|
|
CA387963432 rs1420343125 |
277 | W>C | No |
ClinGen gnomAD |
|
|
CA6965143 rs770414433 |
278 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs776191177 CA6965144 |
280 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1010911860 CA248534055 |
280 | L>R | No |
ClinGen TOPMed |
|
|
rs1285154747 CA387963553 |
283 | K>N | No |
ClinGen gnomAD |
|
|
CA6965146 rs138595528 |
283 | K>R | No |
ClinGen ESP ExAC TOPMed |
|
|
rs748487719 CA248534071 |
284 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs748487719 CA248534066 |
284 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6965148 rs774007287 |
285 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs769176952 CA6965147 COSM248841 |
285 | M>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 286 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387965856 rs1228895506 |
287 | H>P | No |
ClinGen Ensembl |
|
|
CA6965163 rs749837381 |
288 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA387965901 rs1348161469 |
294 | Y>H | No |
ClinGen gnomAD |
|
|
rs1594127482 CA387965904 |
294 | Y>S | No |
ClinGen Ensembl |
|
|
CA387965912 rs1339132728 |
295 | H>P | No |
ClinGen gnomAD |
|
|
CA387965928 rs1460112150 |
297 | I>M | No |
ClinGen TOPMed |
|
|
CA6965165 rs779150570 |
297 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 299 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1372126055 CA387965951 |
301 | G>D | No |
ClinGen TOPMed |
|
|
rs771610944 CA6965167 |
301 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 302 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6965169 rs760144949 |
304 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA387965979 rs1336937653 |
305 | V>L | No |
ClinGen gnomAD |
|
|
rs148496237 CA6965170 |
307 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387966006 rs1231230457 |
309 | P>L | No |
ClinGen gnomAD |
|
|
rs141975148 CA387966003 |
309 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141975148 CA6965171 |
309 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 310 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765012150 CA6965173 |
311 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA387966015 rs1566149094 |
311 | I>N | No |
ClinGen Ensembl |
|
|
rs759478548 CA6965172 |
311 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA387966023 rs1424649303 |
312 | A>V | No |
ClinGen gnomAD |
|
|
rs750985985 CA248537544 |
313 | L>I | No |
ClinGen Ensembl |
|
|
rs1468620020 CA387966029 |
314 | N>D | No |
ClinGen gnomAD |
|
|
CA6965174 COSM147679 rs752425859 |
314 | N>S | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA6965175 COSM947512 rs762859675 |
317 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs562550662 CA6965177 |
319 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs775541785 CA6965192 |
321 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762618456 CA6965193 |
322 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1226339476 CA387966139 |
324 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6965194 rs763973609 |
325 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6965195 rs61756564 |
325 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369104416 CA6965197 |
327 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387966196 rs755133612 |
328 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs755133612 CA6965199 |
328 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA6965200 rs139002109 |
329 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA248538360 rs894505964 |
331 | S>N | No |
ClinGen TOPMed |
|
|
rs758637912 CA6965202 |
335 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 337 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6965203 rs149911208 |
338 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA248538405 rs750818819 |
340 | K>R | No |
ClinGen Ensembl |
|
|
rs780875388 CA6965206 |
351 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6965207 rs745343108 |
351 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA6965208 rs769380353 |
352 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6965209 rs775245245 COSM169698 |
352 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA387966684 rs1293175483 |
353 | F>L | No |
ClinGen gnomAD |
|
|
CA387966704 rs1342256197 |
355 | Q>R | No |
ClinGen gnomAD |
|
|
CA6965211 rs369495113 |
359 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 360 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387966808 rs1242345325 |
361 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6965213 rs761759034 |
366 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1466728233 CA387966989 |
369 | G>D | No |
ClinGen TOPMed |
|
|
rs766686422 CA6965214 |
370 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA248538453 rs986549201 |
371 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 375 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1331883552 CA387967386 |
377 | F>S | No |
ClinGen gnomAD |
|
|
rs975706185 CA248539723 |
379 | K>N | No |
ClinGen TOPMed |
|
|
CA6965232 rs748816784 COSM1607092 |
380 | F>L | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA387967424 rs1372703969 |
380 | F>S | No |
ClinGen gnomAD |
|
|
CA387967467 rs199820826 |
381 | D>E | No |
ClinGen TOPMed |
|
|
CA6965233 rs768702781 |
381 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157210609 CA387967481 |
382 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1157210609 CA387967480 |
382 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs921207491 CA248539752 |
384 | R>Q | No |
ClinGen TOPMed |
|
|
COSM188179 rs369204515 CA6965234 |
384 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
| TCGA novel | 387 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387967703 rs1261649123 |
391 | D>N | No |
ClinGen gnomAD |
|
|
rs1594133278 CA387967853 |
397 | V>G | No |
ClinGen Ensembl |
|
|
rs372490160 CA6965239 |
401 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387967983 rs1251206151 |
402 | D>G | No |
ClinGen gnomAD |
|
|
rs1480039297 CA387968017 |
403 | K>R | No |
ClinGen gnomAD |
|
|
CA387968061 rs1373985771 |
405 | N>D | No |
ClinGen TOPMed |
|
|
rs1299745480 CA387968120 |
407 | N>S | No |
ClinGen TOPMed |
|
|
CA387968136 rs1269073150 |
408 | K>Q | No |
ClinGen gnomAD |
|
|
rs1434068653 CA387968181 |
409 | Q>* | No |
ClinGen TOPMed |
|
|
rs1434068653 CA387968178 |
409 | Q>E | No |
ClinGen TOPMed |
|
|
rs777624667 CA6965254 |
410 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA387968626 rs1358250401 |
423 | L>R | No |
ClinGen TOPMed |
|
|
CA6965258 rs775620105 |
425 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 427 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1297128200 CA387968782 |
430 | G>R | No |
ClinGen TOPMed |
|
|
rs1453898325 CA387968796 |
431 | G>V | No |
ClinGen TOPMed |
|
|
rs762983732 CA6965259 |
432 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA387968896 rs1566152614 |
435 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 435 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1424056012 CA387968959 |
437 | T>A | No |
ClinGen gnomAD |
|
|
rs774786374 CA6965261 |
437 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1424056012 CA387968952 |
437 | T>P | No |
ClinGen gnomAD |
|
|
rs774786374 CA387968984 |
437 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA387969003 rs1594133847 |
438 | Q>H | No |
ClinGen Ensembl |
|
|
rs143969089 CA6965262 |
439 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA387969045 rs1288650759 |
440 | P>L | No |
ClinGen gnomAD |
|
|
rs767976755 CA6965263 |
440 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 444 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760996035 CA387969152 |
445 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs760996035 CA6965265 |
445 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs753462416 CA6965267 |
446 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1594133938 CA387969181 |
446 | L>V | No |
ClinGen Ensembl |
|
|
CA6965268 rs752901725 |
447 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6965271 rs752611614 |
448 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6965270 rs752611614 |
448 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241323257 CA387969222 |
449 | A>S | No |
ClinGen gnomAD |
|
|
CA6965273 rs746794339 |
449 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA387969266 rs1477006760 |
450 | S>R | No |
ClinGen TOPMed |
|
|
CA6965275 rs780276236 |
454 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 457 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA248543960 rs139214848 |
457 | W>G | No |
ClinGen Ensembl |
|
|
CA387971718 rs1158928396 |
458 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6965295 rs373911058 |
459 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6965294 rs745732724 |
459 | I>T | No |
ClinGen ExAC |
|
|
rs779155872 CA6965296 |
461 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs139859193 CA6965298 |
462 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3813841 rs747484150 CA6965300 |
464 | L>F | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA248544036 rs982757728 |
471 | S>F | No |
ClinGen gnomAD |
|
|
CA6965303 rs760031497 |
472 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA248544041 rs865980074 |
476 | P>F | No |
ClinGen Ensembl |
|
|
CA248544046 rs907816135 |
476 | P>L | No |
ClinGen Ensembl |
|
|
CA6965305 rs775319699 |
479 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA248544052 rs940574531 |
480 | S>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 482 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259866153 CA387972050 |
482 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA387972051 rs1259866153 |
482 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs768426153 CA6965330 COSM3744175 |
486 | T>M | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs768426153 CA6965329 |
486 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs78069295 CA248546550 |
493 | A>S | No |
ClinGen Ensembl |
|
|
CA6965333 rs201179116 |
494 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA248546554 rs140413149 |
496 | L>V | No |
ClinGen ESP |
|
|
rs766171721 CA6965335 |
499 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6965336 rs200119073 |
501 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6965337 rs371021561 |
503 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6965338 rs142654461 |
505 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751566598 CA6965339 |
506 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA6965340 rs751566598 |
506 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6965341 rs781748802 |
510 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA387973817 rs1246780806 |
512 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 513 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761190270 CA6965348 |
514 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6965351 rs374157956 |
515 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6965353 rs151042099 |
519 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764187776 CA6965355 |
523 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA248514459 rs941353996 |
525 | K>E | No |
ClinGen TOPMed |
|
|
rs1258921539 CA387956413 |
525 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6965356 rs377502441 |
526 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6965357 rs41288303 |
528 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6965358 rs375491822 |
529 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA248514463 rs1037469251 |
530 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6965360 rs150189046 |
531 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6965361 rs147914294 |
533 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749584570 CA6965362 |
534 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA387956476 rs1470269272 |
535 | E>A | No |
ClinGen gnomAD |
|
|
CA387956474 rs1190896837 |
535 | E>Q | No |
ClinGen TOPMed |
|
|
CA6965365 rs747814245 |
538 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA387956496 rs201754211 |
538 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201754211 CA6965364 |
538 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1001640522 CA248514513 |
543 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA248514517 rs757962617 |
544 | A>T | No |
ClinGen gnomAD |
|
|
rs772703323 CA6965367 |
544 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA248514525 rs370078018 |
545 | S>N | No |
ClinGen ESP |
|
|
rs1225227469 CA387956546 |
546 | K>R | No |
ClinGen TOPMed |
|
|
rs1372580112 CA387956900 |
551 | N>T | No |
ClinGen gnomAD |
|
|
CA387956909 rs1305244348 |
552 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA387956943 rs1218449569 |
554 | L>R | No |
ClinGen TOPMed |
|
|
CA387956937 rs1366395771 |
554 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6965390 COSM947516 rs566176942 |
555 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1013518128 CA248515408 |
562 | H>Q | No |
ClinGen TOPMed |
|
|
rs775345396 CA6965391 |
565 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs762893539 CA6965392 |
568 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762893539 CA6965393 |
568 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147089288 CA6965394 |
569 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA6965395 rs760789527 |
570 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA248515452 rs948465723 |
571 | L>P | No |
ClinGen Ensembl |
|
|
rs766495887 CA6965396 |
575 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1293542698 CA387957165 |
575 | S>R | No |
ClinGen gnomAD |
|
|
CA387957185 rs534480233 |
577 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6965397 rs534480233 |
577 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6965400 rs753038116 COSM3957217 |
578 | I>T | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA6965399 rs765720493 |
578 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6965402 rs777360532 |
579 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746682696 CA6965403 |
581 | E>K | No |
ClinGen ExAC |
|
|
rs768954260 CA6965404 |
582 | D>G | No |
ClinGen ExAC |
|
|
CA387957233 rs1447779052 |
582 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 583 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs557531076 CA6965406 |
586 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387957280 rs1464609191 |
588 | S>N | No |
ClinGen TOPMed |
|
|
CA387957298 rs1161834168 |
590 | E>V | No |
ClinGen gnomAD |
|
|
CA6965408 rs543303090 |
591 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387957313 rs1288845062 |
593 | G>C | No |
ClinGen gnomAD |
|
|
rs1288845062 CA387957312 |
593 | G>R | No |
ClinGen gnomAD |
|
|
CA387957326 rs1360453028 |
595 | S>G | No |
ClinGen gnomAD |
|
|
CA6965409 rs780185054 |
597 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs749052260 CA6965410 |
597 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA387957353 CA248515530 rs557268522 |
598 | Q>H | No |
ClinGen 1000Genomes TOPMed |
|
|
CA248515533 rs796792375 |
600 | G>R | No |
ClinGen Ensembl |
|
|
CA6965413 rs138446306 |
602 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1044883165 CA248515540 |
602 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs201254895 CA6965415 |
603 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6965416 rs759582378 |
604 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA6965417 rs35776153 |
606 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753230357 CA6965418 |
609 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1444044828 CA387957437 |
612 | V>I | No |
ClinGen gnomAD |
|
|
rs1363983284 CA387957444 |
613 | K>T | No |
ClinGen TOPMed |
|
|
rs764452206 CA387957457 |
615 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764452206 CA6965420 |
615 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149645025 CA6965422 |
618 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387957476 rs1401689145 |
618 | M>L | No |
ClinGen gnomAD |
|
|
rs562857614 CA248515575 |
618 | M>R | No |
ClinGen Ensembl |
|
|
CA6965423 rs780759983 |
619 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6965424 rs749921686 |
620 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6965425 rs755615251 |
622 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1382922456 CA387957530 |
626 | K>E | No |
ClinGen gnomAD |
|
|
CA6965426 rs780091200 |
627 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6965427 rs749253083 |
628 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA387957562 rs1449142759 |
631 | V>I | No |
ClinGen TOPMed |
|
|
CA387957569 rs1373877147 |
632 | I>V | No |
ClinGen TOPMed |
|
|
CA248515608 rs377208660 |
633 | E>K | No |
ClinGen ESP TOPMed |
|
|
CA6965430 rs182461934 |
636 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1200598403 CA387957633 |
639 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA387957629 rs1490956290 |
639 | M>L | No |
ClinGen gnomAD |
|
|
rs903828962 CA248516246 |
640 | D>N | No |
ClinGen Ensembl |
|
|
rs1429279444 CA387957646 |
641 | D>A | No |
ClinGen gnomAD |
|
|
CA387957649 rs1477336029 |
641 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1429279444 CA387957648 |
641 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6965449 rs758155242 |
642 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387957655 rs1594176417 |
642 | P>L | No |
ClinGen Ensembl |
|
|
rs781426390 CA6965450 |
644 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746090331 CA6965451 |
646 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA387957683 rs1303519284 |
647 | C>Y | No |
ClinGen gnomAD |
|
|
rs1566174939 CA387957698 |
649 | P>S | No |
ClinGen Ensembl |
|
|
CA248516252 rs192755914 |
651 | N>D | No |
ClinGen 1000Genomes gnomAD |
|
|
CA387957708 rs192755914 |
651 | N>H | No |
ClinGen 1000Genomes gnomAD |
|
|
CA248516257 rs780375331 |
652 | Q>* | No |
ClinGen Ensembl |
|
|
rs769122394 CA387957732 |
654 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769122394 CA6965455 |
654 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774752653 CA6965456 |
655 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387957742 rs1214036440 |
656 | Y>D | No |
ClinGen gnomAD |
|
|
CA387957765 rs1361848175 |
659 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 660 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6965458 rs767790371 |
661 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1566175068 CA387957787 |
662 | D>G | No |
ClinGen Ensembl |
|
|
rs1239498010 CA387957784 |
662 | D>H | No |
ClinGen Ensembl |
|
|
rs1258010712 CA387957826 |
667 | E>V | No |
ClinGen TOPMed |
|
|
rs760403079 CA6965460 |
670 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6965461 rs766194972 |
671 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387957850 rs766194972 |
671 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113799173 CA6965462 |
672 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6965464 rs202129971 |
673 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202129971 CA6965463 |
673 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6965465 rs141649667 |
674 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 675 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA248518370 rs776451710 |
684 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6965480 rs776451710 |
684 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6965479 rs766095835 |
684 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6965481 rs759064742 |
687 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 688 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1225610220 CA387958091 |
688 | A>S | No |
ClinGen TOPMed |
|
|
rs764666256 CA248518379 |
689 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387958095 rs1160079314 |
689 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs764666256 CA6965482 |
689 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA387958100 rs1385331946 |
690 | A>E | No |
ClinGen gnomAD |
|
|
rs778682599 CA248518381 |
690 | A>T | No |
ClinGen Ensembl |
|
|
rs1160732586 CA387958113 |
692 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1408418333 CA387958129 |
694 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA387958140 rs1334666210 |
696 | Q>* | No |
ClinGen TOPMed |
|
|
CA387958169 rs1451851200 |
700 | V>I | No |
ClinGen TOPMed |
|
|
CA6965487 rs757076960 |
701 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6965486 rs751326412 |
701 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA387958179 rs1594184859 |
702 | G>C | No |
ClinGen Ensembl |
|
|
CA387958202 rs1357828129 |
706 | A>P | No |
ClinGen gnomAD |
|
|
rs1357828129 CA387958201 |
706 | A>T | No |
ClinGen gnomAD |
|
|
CA387958220 rs1265486038 |
708 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs748321189 CA6965492 |
713 | P>L | No |
ClinGen ExAC TOPMed |
|
|
rs748321189 CA387958255 |
713 | P>R | No |
ClinGen ExAC TOPMed |
|
|
CA6965493 rs539855622 |
718 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA248518438 rs778381864 |
720 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6965494 rs778381864 |
720 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387958334 rs1168758860 |
723 | G>V | No |
ClinGen gnomAD |
|
|
rs77771252 CA248519796 |
727 | G>V | No |
ClinGen Ensembl |
|
|
CA387958397 rs1370152366 |
729 | A>P | No |
ClinGen gnomAD |
|
|
CA6965518 rs775240895 |
730 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1439813625 CA387958428 |
731 | S>L | No |
ClinGen Ensembl |
|
|
rs768225908 COSM1637902 CA6965520 |
733 | A>T | bone [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA248519803 rs1009380460 |
734 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA387958481 rs1594191382 |
735 | S>R | No |
ClinGen Ensembl |
|
|
CA248519814 rs868257718 COSM188188 |
736 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1228939537 CA387958497 |
737 | I>V | No |
ClinGen gnomAD |
|
|
rs761739064 CA6965522 |
738 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1226098266 CA387958560 |
741 | M>I | No |
ClinGen TOPMed |
|
|
CA6965523 rs767504727 |
741 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs780113029 CA248519835 |
742 | L>S | No |
ClinGen Ensembl |
|
|
CA387958613 rs1452834943 |
746 | I>V | No |
ClinGen gnomAD |
|
|
CA248519852 rs867328539 |
747 | D>V | No |
ClinGen Ensembl |
|
|
rs1488660321 CA387958629 |
747 | D>Y | No |
ClinGen gnomAD |
|
|
rs867638430 CA248519856 |
748 | P>L | No |
ClinGen Ensembl |
|
|
rs765334560 CA6965526 |
750 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA6965527 rs752982782 |
750 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA387958681 rs1430419797 COSM1203452 |
751 | A>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 752 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150663668 CA6965528 |
752 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751755772 CA6965530 |
753 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1428078468 CA387958701 |
753 | P>S | No |
ClinGen gnomAD |
|
|
rs781776376 CA6965532 |
755 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs746180607 CA387958758 |
757 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs746180607 CA6965533 |
757 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 760 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6965537 rs139794584 |
762 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387958823 rs139794584 |
762 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749676451 CA6965566 |
763 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs780463889 CA6965565 |
763 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA6965567 rs567094425 |
764 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA248520406 rs888436254 |
767 | E>Q | No |
ClinGen Ensembl |
|
|
CA248520425 rs991180196 |
768 | K>R | No |
ClinGen TOPMed |
|
|
CA6965568 rs778579075 |
769 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA6965569 rs747620487 |
770 | V>I | No |
ClinGen ExAC |
|
|
rs771589981 CA6965570 |
771 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA248520448 rs200984422 |
783 | I>M | No |
ClinGen 1000Genomes |
|
|
rs1458940278 CA387959452 |
786 | E>K | No |
ClinGen TOPMed |
|
|
CA387959518 rs1444237954 |
790 | K>E | No |
ClinGen gnomAD |
|
|
rs1410351719 CA387959600 |
795 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 797 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387959624 rs1455245634 |
797 | K>R | No |
ClinGen gnomAD |
|
|
rs200036444 CA6965573 |
798 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387959681 rs1413388383 |
800 | S>N | No |
ClinGen gnomAD |
|
|
CA6965585 rs755370811 |
801 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA387959694 rs1410270624 |
801 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA387959693 rs1410270624 COSM169043 |
801 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA6965587 rs752357617 |
802 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA248520596 rs865964768 |
806 | M>T | No |
ClinGen Ensembl |
|
| TCGA novel | 808 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1219473707 CA387959800 |
808 | Y>N | No |
ClinGen TOPMed |
|
|
rs866688959 CA248520606 |
814 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6965590 rs367697330 |
814 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781029886 CA248520621 |
820 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs781029886 CA6965592 |
820 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA248520629 rs771751669 |
823 | N>S | No |
ClinGen Ensembl |
|
|
CA6965593 rs745617406 |
827 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1272939715 CA387960104 |
827 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs146247217 CA248520632 |
828 | V>F | No |
ClinGen ESP |
|
|
rs1594204474 CA387961367 |
832 | C>G | No |
ClinGen Ensembl |
|
|
rs1594204484 CA387961377 |
832 | C>W | No |
ClinGen Ensembl |
|
|
rs1342473465 CA387961401 |
834 | G>E | No |
ClinGen gnomAD |
|
|
CA387961429 rs1354642583 |
836 | Y>S | No |
ClinGen gnomAD |
|
|
CA6965630 rs773339505 |
837 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA248524243 rs1008297787 |
838 | P>L | No |
ClinGen Ensembl |
|
|
CA6965631 rs760763319 |
838 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs963908186 CA248524254 |
840 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA387961474 rs963908186 |
840 | P>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 845 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA248524261 rs865920880 |
846 | A>V | No |
ClinGen Ensembl |
|
|
CA387961567 rs1229586089 |
847 | V>L | No |
ClinGen gnomAD |
|
|
COSM188192 CA387961566 rs1229586089 |
847 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA387961607 rs1187728154 |
850 | I>V | No |
ClinGen gnomAD |
|
|
rs1318514727 CA387961618 COSM3813845 |
851 | P>A | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA6965635 rs765788049 |
857 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1555275805 CA387961691 |
857 | T>P | No |
ClinGen Ensembl |
|
|
CA6965636 rs775808969 |
858 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 860 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387961808 rs1318638751 |
864 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA248524282 rs1019733400 |
866 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs370623843 CA248524286 |
867 | D>N | No |
ClinGen ESP |
|
|
CA387962950 rs1331712501 |
868 | I>M | No |
ClinGen TOPMed |
|
|
CA6965664 rs369860647 |
868 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs753844902 CA6965665 |
871 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1366310515 CA387963052 |
873 | S>F | No |
ClinGen TOPMed |
|
|
rs748031004 CA6965668 |
875 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387963221 rs1482579498 |
882 | V>I | No |
ClinGen gnomAD |
|
|
rs1280412250 CA387963274 |
884 | I>T | No |
ClinGen gnomAD |
|
|
rs1457657155 CA387963335 |
887 | S>G | No |
ClinGen TOPMed |
|
|
rs376697175 CA6965671 |
888 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6965672 rs769885214 |
889 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA387963442 rs1375938576 |
891 | A>V | No |
ClinGen gnomAD |
|
|
rs1487648758 CA387963471 |
893 | S>A | No |
ClinGen TOPMed |
|
|
rs1265056869 CA387963581 |
898 | L>V | No |
ClinGen TOPMed |
|
|
rs769264067 CA6965675 |
902 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA387963678 rs1361667974 |
904 | A>G | No |
ClinGen TOPMed |
|
|
CA387963750 rs1271169110 |
906 | C>W | No |
ClinGen gnomAD |
|
|
CA248526529 rs1031520173 |
907 | R>C | No |
ClinGen Ensembl |
|
|
CA6965695 rs145128494 |
907 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs181226012 CA248526540 |
908 | T>A | No |
ClinGen 1000Genomes |
|
|
CA6965696 rs148688241 |
908 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387963765 rs148688241 |
908 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772937446 COSM3721464 CA6965698 |
913 | I>V | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA387963838 rs1423578483 |
914 | F>L | No |
ClinGen gnomAD |
|
|
CA387963889 rs1414836142 |
917 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA387963909 rs1377430231 |
918 | G>E | No |
ClinGen TOPMed |
|
|
CA6965700 rs770761670 |
921 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1594212275 CA387964024 |
926 | E>G | No |
ClinGen Ensembl |
|
|
rs1387186529 CA387964054 |
927 | A>V | No |
ClinGen gnomAD |
|
|
CA248526625 rs1030551904 |
929 | V>A | No |
ClinGen Ensembl |
|
|
CA387964115 rs1030551904 |
929 | V>G | No |
ClinGen Ensembl |
|
|
rs765044170 CA6965703 |
931 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs751414354 CA6965707 COSM1322886 |
935 | I>M | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA387964216 rs1331115921 |
935 | I>V | No |
ClinGen gnomAD |
|
|
rs1267623296 CA387964232 |
937 | I>V | No |
ClinGen gnomAD |
|
|
CA6965708 rs756307036 |
938 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1315155247 CA387964239 |
938 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6965709 rs780366050 |
943 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA248526660 rs780366050 |
943 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1206828036 CA387964345 |
945 | M>V | No |
ClinGen TOPMed |
|
|
CA248526680 rs960560910 |
946 | L>I | No |
ClinGen gnomAD |
|
|
CA387964394 rs1186243453 |
947 | T>S | No |
ClinGen gnomAD |
|
|
CA248527518 rs899359450 |
954 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs774102103 CA6965724 |
956 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 958 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1425187132 CA387965176 |
960 | E>K | No |
ClinGen gnomAD |
|
|
CA6965725 rs772294147 |
963 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766466217 CA6965726 |
965 | C>Y | No |
ClinGen ExAC |
|
|
rs1316218192 CA387965241 |
968 | G>V | No |
ClinGen TOPMed |
|
| TCGA novel | 969 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1372234396 CA387965245 |
969 | K>T | No |
ClinGen gnomAD |
|
|
rs1454894683 CA387965252 |
970 | P>S | No |
ClinGen TOPMed |
|
|
rs1430133391 CA387965257 |
971 | V>L | No |
ClinGen gnomAD |
|
|
CA6965727 rs754106676 |
972 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6965728 rs754950448 |
973 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556793592 CA248527594 |
973 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs556793592 CA6965729 |
973 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1398740148 CA387965272 |
974 | T>N | No |
ClinGen TOPMed |
|
|
rs1366943797 CA387965294 |
977 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA387965304 rs1300064446 |
978 | I>M | No |
ClinGen gnomAD |
|
|
rs1232395262 CA387965299 |
978 | I>V | No |
ClinGen gnomAD |
|
|
rs1343363763 CA387965317 |
980 | H>R | No |
ClinGen gnomAD |
|
|
rs778461926 CA6965732 |
981 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747335283 CA6965733 |
982 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373412730 CA6965736 |
984 | L>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6965737 rs142267622 |
985 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs542496571 CA6965738 |
988 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs562261930 CA6965740 |
990 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772952244 CA6965744 |
996 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141688029 CA6965745 |
998 | A>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1393892898 CA387965514 |
1000 | E>Q | No |
ClinGen gnomAD |
|
|
CA248527697 rs1022671579 |
1001 | E>K | No |
ClinGen Ensembl |
|
|
CA387965555 rs1348983451 |
1003 | I>L | No |
ClinGen TOPMed |
|
|
rs1594221248 CA387966137 |
1008 | D>A | No |
ClinGen Ensembl |
|
|
CA6965768 rs751755572 |
1009 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6965769 rs762368524 |
1009 | A>V | No |
ClinGen ExAC |
|
|
rs1204237437 CA387966153 |
1010 | A>T | No |
ClinGen gnomAD |
|
|
rs1259197546 CA387966175 |
1012 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA387966186 rs867697062 |
1013 | H>D | No |
ClinGen TOPMed |
|
|
CA248529909 rs867697062 |
1013 | H>Y | No |
ClinGen TOPMed |
|
|
CA6965770 rs767950203 |
1014 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6965771 rs750760355 |
1014 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs779625784 CA6965773 |
1021 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA387966302 rs1298287029 |
1022 | H>R | No |
ClinGen gnomAD |
|
|
CA387966324 rs1473974262 |
1024 | V>L | No |
ClinGen Ensembl |
|
|
CA387966338 rs1453106584 |
1025 | N>D | No |
ClinGen gnomAD |
|
|
CA387966371 rs1157114886 |
1027 | C>Y | No |
ClinGen gnomAD |
|
|
rs1371338366 CA387966393 |
1028 | S>F | No |
ClinGen TOPMed |
|
|
CA387966429 rs1404600612 |
1030 | A>T | No |
ClinGen gnomAD |
|
|
CA6965774 rs753496444 |
1030 | A>V | No |
ClinGen ExAC |
|
|
CA387966471 rs1312654873 |
1032 | N>K | No |
ClinGen gnomAD |
|
|
rs778384903 CA387966529 |
1035 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA248529971 rs921359818 |
1035 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1281240387 CA387966564 |
1038 | C>S | No |
ClinGen TOPMed |
|
|
CA248529974 rs932767472 |
1038 | C>Y | No |
ClinGen gnomAD |
|
|
COSM1706727 rs772010308 CA6965778 |
1039 | P>L | lung skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6965777 rs747664279 |
1039 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA6965780 rs746765924 |
1040 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs754607447 CA6965793 |
1041 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs901694327 CA248530475 |
1043 | T>A | No |
ClinGen Ensembl |
|
|
rs752207897 CA6965795 |
1046 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA387966853 rs1221342152 |
1048 | T>A | No |
ClinGen TOPMed |
|
|
CA6965796 rs757865293 |
1048 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs757865293 CA387966861 |
1048 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs746923928 CA6965798 |
1051 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs375464126 CA6965797 |
1051 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs552593932 CA6965799 |
1053 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA248530525 rs956131455 |
1054 | V>M | No |
ClinGen TOPMed |
|
|
rs754204468 CA248530529 |
1056 | A>S | No |
ClinGen gnomAD |
|
|
rs754204468 CA387967003 |
1056 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1056 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768960363 CA6965802 |
1058 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310616960 CA387967057 |
1059 | N>D | No |
ClinGen TOPMed |
|
|
CA387967131 rs1324870948 |
1063 | S>F | No |
ClinGen gnomAD |
|
|
rs748202695 CA6965804 CA387967145 |
1064 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1487537294 COSM389100 CA387967170 |
1067 | G>V | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA387967178 rs1375737968 |
1068 | R>T | No |
ClinGen TOPMed |
|
|
rs1296062723 CA387967186 |
1069 | V>F | No |
ClinGen gnomAD |
|
|
CA248530541 rs866644179 COSM135630 |
1070 | P>S | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6965815 rs763505321 |
1075 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA387968534 rs1382493016 |
1077 | H>R | No |
ClinGen gnomAD |
|
|
CA6965816 rs368268622 |
1080 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6965817 rs757237325 |
1080 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1225600935 CA387968637 |
1081 | V>G | No |
ClinGen TOPMed |
|
|
rs1331264284 CA387968633 |
1081 | V>L | No |
ClinGen gnomAD |
|
|
rs147726218 CA6965819 |
1083 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372906999 CA6965821 |
1086 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1566206909 CA387968775 |
1086 | H>Y | No |
ClinGen Ensembl |
|
|
rs1258573128 CA387968838 |
1088 | V>M | No |
ClinGen gnomAD |
|
|
rs1594230884 CA387968940 |
1090 | V>G | No |
ClinGen Ensembl |
|
|
rs1475184569 CA387968934 |
1090 | V>L | No |
ClinGen gnomAD |
|
|
rs77255968 CA248536218 |
1091 | E>G | No |
ClinGen Ensembl |
|
|
CA248536222 rs866272264 |
1093 | Q>* | No |
ClinGen Ensembl |
|
|
rs1594230932 CA387969013 |
1093 | Q>R | No |
ClinGen Ensembl |
|
|
CA6965822 rs190695362 |
1096 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387969090 rs1313678600 |
1096 | T>K | No |
ClinGen TOPMed |
|
|
rs867375957 CA248536226 |
1099 | P>S | No |
ClinGen Ensembl |
|
|
rs1296090857 CA387969175 |
1101 | L>F | No |
ClinGen TOPMed |
|
|
CA387969256 rs1354877537 |
1104 | I>T | No |
ClinGen TOPMed |
|
|
CA6965823 rs748316174 |
1104 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61757579 CA6965824 |
1106 | H>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6965825 rs773146693 |
1106 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs773146693 CA6965826 |
1106 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs771383525 CA6965827 |
1107 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs777141529 CA6965828 |
1107 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs771383525 CA248536232 |
1107 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs150235667 CA6965830 |
1108 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387969364 CA387969357 rs180870 |
1109 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1384546537 CA387969347 |
1109 | E>K | No |
ClinGen TOPMed |
|
|
CA387969397 rs1329067715 |
1111 | E>G | No |
ClinGen gnomAD |
|
|
CA387969393 rs1445897225 |
1111 | E>K | No |
ClinGen gnomAD |
|
|
CA6965848 rs200497933 |
1113 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387969525 rs1594231874 |
1113 | P>S | No |
ClinGen Ensembl |
|
|
rs770389136 CA6965849 |
1118 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1317553787 CA387969657 |
1119 | K>R | No |
ClinGen TOPMed |
|
|
CA387969676 rs1566207625 |
1120 | R>S | No |
ClinGen Ensembl |
|
|
CA6965852 rs763416524 |
1121 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149430772 CA248536503 |
1121 | N>S | No |
ClinGen ESP gnomAD |
|
|
CA6965853 rs768154517 |
1122 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768154517 CA387969717 |
1122 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6965856 rs767129205 |
1126 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387969846 rs1193073014 |
1127 | F>V | No |
ClinGen TOPMed |
|
|
CA6965858 rs760664885 |
1128 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200276004 CA248536575 |
1128 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM188204 rs200276004 CA6965859 |
1128 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1201252300 CA387969969 |
1131 | P>T | No |
ClinGen TOPMed |
|
|
rs1460557832 CA387970052 |
1134 | K>R | No |
ClinGen TOPMed |
|
|
rs866930279 CA248536599 |
1135 | K>N | No |
ClinGen gnomAD |
|
|
CA387970085 rs1201891191 |
1136 | E>K | No |
ClinGen TOPMed |
|
|
rs143773297 CA248536614 |
1137 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6965864 rs757545191 |
1137 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1370553114 CA387970160 |
1138 | V>A | No |
ClinGen gnomAD |
|
|
CA6965866 rs745999014 |
1139 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387970168 rs1269432940 |
1139 | Q>R | No |
ClinGen TOPMed |
|
|
rs1228029937 CA387970192 |
1140 | K>R | No |
ClinGen TOPMed |
|
|
rs1300306190 CA387970234 |
1141 | Q>H | No |
ClinGen gnomAD |
|
|
rs1367311063 CA387970273 |
1142 | K>N | No |
ClinGen TOPMed |
|
|
rs770170245 CA6965867 |
1143 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450545639 CA387970326 |
1145 | S>* | No |
ClinGen TOPMed |
|
|
rs1421653030 CA387970352 |
1146 | Q>H | No |
ClinGen gnomAD |
|
|
rs1214552000 CA387970381 |
1148 | V>I | No |
ClinGen gnomAD |
|
|
rs760259835 CA6965880 |
1149 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs201445827 CA6965882 |
1151 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144627941 CA6965881 |
1151 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1333497222 CA387970727 |
1159 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1229403053 CA387970747 |
1161 | D>G | No |
ClinGen TOPMed |
|
|
CA387970744 rs1301999827 |
1161 | D>H | No |
ClinGen gnomAD |
|
|
rs765015056 CA6965885 |
1162 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM469445 rs765015056 CA6965884 |
1162 | L>V | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6965886 rs201300294 |
1163 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767768271 CA6965887 |
1163 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs767768271 CA387970773 |
1163 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1397946970 CA387970789 |
1164 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6965888 rs750462553 |
1164 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA387970800 rs1240079593 CA387970799 |
1165 | L>F | No |
ClinGen gnomAD |
|
|
CA387970806 rs1349929187 |
1166 | G>E | No |
ClinGen TOPMed |
|
|
CA387970822 rs1324994245 COSM1366937 |
1168 | Y>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs756240676 CA387970840 |
1169 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313536078 CA387970863 |
1170 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA248537523 rs369487836 |
1171 | I>V | No |
ClinGen ESP TOPMed |
|
|
CA6965890 rs373528675 |
1174 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6965891 rs749797339 COSM168441 |
1174 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6965892 rs749797339 |
1174 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387970945 rs749797339 |
1174 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6965893 rs779396292 |
1176 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA387970971 rs1385932736 |
1176 | D>Y | No |
ClinGen gnomAD |
|
|
CA6965896 rs773017410 |
1180 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6965894 rs531020216 |
1180 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6965895 rs531020216 |
1180 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA248537586 rs141670706 |
1183 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1260529987 CA387971076 |
1183 | L>V | No |
ClinGen gnomAD |
|
|
CA6965897 rs146220534 |
1184 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs75071921 CA6965898 |
1186 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1594235012 CA387971128 |
1187 | R>G | No |
ClinGen Ensembl |
|
|
rs1267740667 CA387971139 |
1188 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs776075474 CA6965899 |
1188 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200453331 CA6965900 |
1189 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1190 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA248537600 rs939683375 |
1191 | K>E | No |
ClinGen gnomAD |
|
|
CA6965933 rs765778435 |
1192 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs753257322 CA6965934 |
1192 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387973062 rs1461685369 |
1194 | G>R | No |
ClinGen gnomAD |
|
|
rs1324765631 CA387973079 |
1195 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1324765631 CA387973081 |
1195 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6965937 rs372968115 |
1196 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6965939 rs780739789 |
1197 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1325787945 CA387973131 |
1198 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA387973172 rs1407512361 |
1200 | H>P | No |
ClinGen TOPMed |
|
|
rs1275147691 CA387973181 |
1200 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
VAR_033867 rs17646069 CA6965941 |
1201 | V>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs779605287 CA6965942 |
1203 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs866439930 CA387973211 |
1203 | R>L | No |
ClinGen gnomAD |
|
|
rs866439930 CA248541837 |
1203 | R>Q | No |
ClinGen gnomAD |
|
|
CA248541845 rs866852987 |
1205 | L>F | No |
ClinGen Ensembl |
|
|
CA6965943 rs749209749 |
1205 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6965945 rs774162562 |
1206 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs774162562 CA6965946 |
1206 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6965947 rs771133158 |
1210 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1211 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1431336700 CA387973429 |
1214 | S>N | No |
ClinGen TOPMed |
|
|
rs776728594 CA6965948 |
1215 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA387973470 rs1363505404 |
1217 | Q>* | No |
ClinGen TOPMed |
|
|
rs552720125 CA6965950 |
1218 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387973521 rs1594249620 |
1220 | V>A | No |
ClinGen Ensembl |
|
|
CA6965952 rs202158354 |
1220 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q86XP1
7 regional properties for Q86XP1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Diacylglycerol kinase, accessory domain | 770 - 927 | IPR000756 |
| domain | Diacylglycerol kinase, catalytic domain | 328 - 463 | IPR001206 |
| domain | Sterile alpha motif domain | 1148 - 1214 | IPR001660 |
| domain | Pleckstrin homology domain | 65 - 160 | IPR001849 |
| domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | 175 - 226 | IPR002219-1 |
| domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | 247 - 299 | IPR002219-2 |
| domain | Diacylglycerol kinase eta, second protein kinase C conserved region 1 | 243 - 304 | IPR047480 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.1.107 | Phosphotransferases with an alcohol group as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| diacylglycerol kinase activity | Catalysis of the reaction: NTP + 1,2-diacylglycerol = NDP + 1,2-diacylglycerol-3-phosphate. |
| identical protein binding | Binding to an identical protein or proteins. |
| kinase binding | Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group. |
| metal ion binding | Binding to a metal ion. |
| SAM domain binding | Binding to a SAM (Sterile Alpha Motif) domain, which is a 70-amino acid protein sequence that participates in protein-protein, protein-lipid, and protein-RNA interactions and is conserved from lower to higher eukaryotes. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| diacylglycerol metabolic process | The chemical reactions and pathways involving diacylglycerol, a glyceride in which any two of the R groups (positions not specified) are acyl groups while the remaining R group can be either H or an alkyl group. |
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| lipid phosphorylation | The process of introducing one or more phosphate groups into a lipid, any member of a group of substances soluble in lipid solvents but only sparingly soluble in aqueous solvents. |
| negative regulation of catalytic activity | Any process that stops or reduces the activity of an enzyme. |
| phosphatidic acid biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidic acid, any derivative of glycerol phosphate in which both the remaining hydroxyl groups of the glycerol moiety are esterified with fatty acids. |
| phosphatidic acid metabolic process | The chemical reactions and pathways involving phosphatidic acid, any derivative of glycerol phosphate in which both the remaining hydroxyl groups of the glycerol moiety are esterified with fatty acids. |
| platelet activation | A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug. |
| protein kinase C-activating G protein-coupled receptor signaling pathway | The series of molecular signals generated as a consequence of a G protein-coupled receptor binding to its physiological ligand, where the pathway proceeds with activation of protein kinase C (PKC). PKC is activated by second messengers including diacylglycerol (DAG). |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGAGGQHHP | PGAAGGAAAG | AGAAVTSAAA | SAGPGEDSSD | SEAEQEGPQK | LIRKVSTSGQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IRTKTSIKEG | QLLKQTSSFQ | RWKKRYFKLR | GRTLYYAKDS | KSLIFDEVDL | SDASVAEAST |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KNANNSFTII | TPFRRLMLCA | ENRKEMEDWI | SSLKSVQTRE | PYEVAQFNVE | HFSGMHNWYA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CSHARPTFCN | VCRESLSGVT | SHGLSCEVCK | FKAHKRCAVR | ATNNCKWTTL | ASIGKDIIED |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EDGVAMPHQW | LEGNLPVSAK | CAVCDKTCGS | VLRLQDWKCL | WCKTMVHTAC | KDLYHPICPL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GQCKVSIIPP | IALNSTDSDG | FCRATFSFCV | SPLLVFVNSK | SGDNQGVKFL | RRFKQLLNPA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QVFDLMNGGP | HLGLRLFQKF | DNFRILVCGG | DGSVGWVLSE | IDKLNLNKQC | QLGVLPLGTG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NDLARVLGWG | GSYDDDTQLP | QILEKLERAS | TKMLDRWSIM | TYELKLPPKA | SLLPGPPEAS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EEFYMTIYED | SVATHLTKIL | NSDEHAVVIS | SAKTLCETVK | DFVAKVEKTY | DKTLENAVVA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DAVASKCSVL | NEKLEQLLQA | LHTDSQAAPV | LPGLSPLIVE | EDAVESSSEE | SLGESKEQLG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| DDVTKPSSQK | AVKPREIMLR | ANSLKKAVRQ | VIEEAGKVMD | DPTVHPCEPA | NQSSDYDSTE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| TDESKEEAKD | DGAKESITVK | TAPRSPDARA | SYGHSQTDSV | PGPAVAASKE | NLPVLNTRII |
| 730 | 740 | 750 | 760 | 770 | 780 |
| CPGLRAGLAA | SIAGSSIINK | MLLANIDPFG | ATPFIDPDLD | SVDGYSEKCV | MNNYFGIGLD |
| 790 | 800 | 810 | 820 | 830 | 840 |
| AKISLEFNNK | REEHPEKCRS | RTKNLMWYGV | LGTRELLQRS | YKNLEQRVQL | ECDGQYIPLP |
| 850 | 860 | 870 | 880 | 890 | 900 |
| SLQGIAVLNI | PSYAGGTNFW | GGTKEDDIFA | APSFDDKILE | VVAIFDSMQM | AVSRVIKLQH |
| 910 | 920 | 930 | 940 | 950 | 960 |
| HRIAQCRTVK | ITIFGDEGVP | VQVDGEAWVQ | PPGIIKIVHK | NRAQMLTRDR | AFESTLKSWE |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| DKQKCDSGKP | VLRTHLYIHH | AIDLATEEVS | QMQLCSQAAE | ELITRICDAA | TIHCLLEQEL |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| AHAVNACSHA | LNKANPRCPE | SLTRDTATEI | AINVKALYNE | TESLLVGRVP | LQLESPHEER |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| VSNALHSVEV | ELQKLTEIPW | LYYILHPNED | EEPPMDCTKR | NNRSTVFRIV | PKFKKEKVQK |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| QKTSSQPVQK | WGTEEVAAWL | DLLNLGEYKD | IFIRHDIRGA | ELLHLERRDL | KDLGIPKVGH |
| 1210 | |||||
| VKRILQGIKE | LGRSTPQSEV |