Q5KSL6
PR
Gene name |
DGKK |
Protein name |
Diacylglycerol kinase kappa |
Names |
CXC-R3, CXCR-3, Interferon-inducible protein 10 receptor, IP-10 receptor, DAG kinase kappa, DGK-kappa, 142 kDa diacylglycerol kinase, Diglyceride kinase kappa |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:139189 |
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 Q5KSL6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5KSL6-F1 | Predicted | AlphaFoldDB |
733 variants for Q5KSL6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1449970019 CA413195379 |
2 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA413195356 rs1557234561 |
3 | R>H | No |
ClinGen gnomAD |
|
|
CA413195348 rs889474354 CA329792777 |
4 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10415746 rs782270355 |
8 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413195264 rs1557234552 |
10 | G>D | No |
ClinGen gnomAD |
|
|
CA329792776 rs933785143 |
10 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA413195229 rs1557234549 |
13 | P>L | No |
ClinGen gnomAD |
|
|
CA10415742 rs782562766 |
16 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413195171 rs868952444 |
17 | G>E | No |
ClinGen gnomAD |
|
|
rs946877150 CA329792775 |
19 | Q>R | No |
ClinGen gnomAD |
|
|
rs782543765 CA413195126 |
20 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10415741 rs782543765 |
20 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs915459391 CA329792773 |
21 | A>T | No |
ClinGen gnomAD |
|
|
CA413195107 rs1295938618 |
22 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA413195109 rs1295938618 |
22 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs959340567 CA329792771 |
23 | S>F | No |
ClinGen Ensembl |
|
|
rs1339639830 CA413195035 |
27 | P>R | No |
ClinGen TOPMed |
|
|
rs782515213 CA10415738 |
28 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782515213 CA10415739 |
28 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413195027 rs1557234534 |
28 | P>S | No |
ClinGen gnomAD |
|
|
rs782733833 CA10415736 |
30 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 30 | W>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372268795 CA329792770 |
30 | W>C | No |
ClinGen Ensembl |
|
|
CA10415735 rs781838837 |
31 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs868935246 CA413194988 |
31 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 36 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557234514 CA413194912 |
37 | P>L | No |
ClinGen gnomAD |
|
|
rs782348058 CA10415730 |
38 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs782206353 CA10415729 |
39 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782206353 CA413194887 |
39 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413194873 rs1236238852 |
40 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs781932258 CA10415726 |
41 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1026820489 CA329792766 |
41 | P>S | No |
ClinGen TOPMed |
|
|
CA10415724 rs782293252 |
42 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1557234503 CA413194856 |
42 | A>S | No |
ClinGen gnomAD |
|
|
CA413194840 rs1602312386 |
43 | P>Q | No |
ClinGen Ensembl |
|
|
rs782654295 CA10415723 |
44 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA10415722 rs782527790 |
45 | L>P | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 47 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329792765 rs782062489 |
48 | E>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA413194757 rs1557234494 |
50 | S>L | Variant assessed as Somatic; 6.754e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs782627092 CA10415718 |
51 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA10415717 rs782474252 |
53 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1602312333 CA413194710 |
54 | I>K | No |
ClinGen Ensembl |
|
|
rs1569545350 CA413194714 |
54 | I>V | No |
ClinGen Ensembl |
|
|
CA10415716 rs781813622 |
55 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA413194689 rs1557234490 |
56 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1285600018 CA413194657 |
58 | C>S | No |
ClinGen TOPMed |
|
|
rs1557234486 CA413194643 |
59 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs782571622 CA413194626 |
60 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782571622 CA10415715 |
60 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782559186 CA10415714 |
62 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA413194591 rs1202394376 |
63 | P>A | No |
ClinGen TOPMed |
|
|
CA10415712 rs782778214 |
64 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs782119346 CA10415711 |
65 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205881509 CA413194554 |
66 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA10415710 rs781816096 |
66 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 76 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10415709 rs782720256 |
76 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10415708 rs782046922 |
78 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1176170610 CA413194391 |
78 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10415706 rs782403425 |
81 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782130794 CA329792763 |
82 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs782130794 CA10415705 |
82 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs782356194 CA10415703 |
83 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782580600 CA10415701 |
84 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1557234455 CA413194291 |
85 | P>R | No |
ClinGen gnomAD |
|
|
CA329792761 rs201447333 |
87 | T>K | No |
ClinGen Ensembl |
|
|
rs782646795 CA329792762 |
87 | T>S | No |
ClinGen 1000Genomes |
|
|
rs782303643 CA10415699 |
91 | S>P | No |
ClinGen ExAC TOPMed |
|
|
rs1557234448 CA413194202 |
92 | E>D | No |
ClinGen gnomAD |
|
|
CA413194187 rs1331745063 |
93 | P>L | No |
ClinGen TOPMed |
|
|
CA413194184 rs902220427 |
94 | A>P | No |
ClinGen TOPMed |
|
|
CA329792759 rs902220427 |
94 | A>T | No |
ClinGen TOPMed |
|
|
CA10415696 rs782670354 |
96 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413194132 rs1602312178 |
97 | P>L | No |
ClinGen Ensembl |
|
|
CA413194138 rs1557234443 |
97 | P>S | No |
ClinGen gnomAD |
|
|
rs1569545342 CA413194114 |
99 | T>S | No |
ClinGen Ensembl |
|
|
CA413194079 rs1198564826 |
101 | P>L | No |
ClinGen TOPMed |
|
|
rs868933501 CA413194085 |
101 | P>S | No |
ClinGen TOPMed |
|
|
CA413194075 rs1557234436 |
102 | A>P | No |
ClinGen gnomAD |
|
|
CA10415692 rs782529067 |
104 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA10415691 rs781861053 |
105 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs188669823 CA413194017 |
106 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1200595728 CA413194024 |
106 | A>T | No |
ClinGen TOPMed |
|
|
RCV000902075 rs188669823 CA10415688 |
106 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs782575131 CA329792757 |
107 | T>P | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 108 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781786278 CA10415687 |
109 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1464055280 CA413193969 |
110 | A>D | No |
ClinGen TOPMed |
|
|
rs868922056 CA413193960 |
111 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs868922056 CA413193963 |
111 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA413193951 rs1391596636 |
112 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1321855524 CA413193927 |
113 | P>R | No |
ClinGen TOPMed |
|
|
rs782763724 CA10415681 |
114 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA413193921 rs782763724 |
114 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA413193913 rs1280562633 |
114 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1557234414 CA10415678 |
115 | P>R | No |
ClinGen gnomAD |
|
|
rs781952576 CA10415679 |
115 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA10415676 rs782050371 |
116 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1557234407 CA413193884 |
117 | P>A | No |
ClinGen gnomAD |
|
|
CA10415674 rs782036950 |
117 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1211053277 CA413193860 |
119 | T>P | No |
ClinGen TOPMed |
|
|
rs868942691 CA413193830 |
121 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 124 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413193793 rs1557234399 |
124 | E>Q | No |
ClinGen gnomAD |
|
|
CA10415666 rs782270809 |
125 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001091931 rs782412267 CA10415667 |
125 | P>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs782642540 CA10415665 |
130 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413193698 rs1459521483 |
131 | L>P | No |
ClinGen TOPMed |
|
|
rs372489920 CA413193673 |
133 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372489920 CA10415664 |
133 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1300247063 CA413193650 |
134 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 135 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1399735301 CA413193613 |
137 | P>S | No |
ClinGen TOPMed |
|
|
rs782269260 CA10415660 |
138 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413193594 rs1243253094 |
138 | A>V | No |
ClinGen TOPMed |
|
|
rs782648895 CA10415659 |
139 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs370418319 CA329792754 |
140 | E>D | No |
ClinGen ESP |
|
|
CA413193560 rs1263231732 |
141 | L>P | No |
ClinGen TOPMed |
|
|
CA10415658 rs782500136 |
142 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 143 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1358082056 CA413193523 |
144 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1557234378 CA413193498 |
146 | A>V | No |
ClinGen gnomAD |
|
|
CA413193490 rs868952373 |
147 | P>T | No |
ClinGen Ensembl |
|
|
rs781841904 CA10415657 |
149 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA10415656 rs782732827 |
150 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413193444 rs782732827 |
150 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782448179 CA10415655 |
152 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs781793290 CA10415654 |
153 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA10415653 rs782804616 |
154 | T>A | No |
ClinGen ExAC |
|
|
rs782149656 CA10415651 |
156 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA10415650 rs782004080 |
157 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1569545325 CA413193309 |
161 | L>M | No |
ClinGen Ensembl |
|
|
rs1557234373 CA413193221 |
167 | P>S | No |
ClinGen gnomAD |
|
|
CA10415646 rs376338133 |
168 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782108080 CA10415647 |
168 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA329792753 rs929307790 |
169 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1557234367 CA413193171 |
171 | P>S | No |
ClinGen gnomAD |
|
|
CA413193161 rs1425555392 |
172 | E>K | No |
ClinGen TOPMed |
|
|
rs369334895 CA10415643 |
173 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782381615 CA10415642 |
174 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA10415641 rs375123197 |
174 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10415639 rs782467860 |
176 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA10415638 rs201791232 |
177 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10415637 rs782569081 |
179 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs782568251 CA10415636 |
180 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA329792751 rs1016806747 |
183 | Q>R | No |
ClinGen Ensembl |
|
|
rs985368837 CA329792750 |
185 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1381782434 CA413192961 |
187 | D>N | No |
ClinGen TOPMed |
|
|
rs781887913 CA10415635 |
188 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 192 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782736038 CA413192892 |
192 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782736038 CA10415631 |
192 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA329792749 rs953982562 |
193 | L>I | No |
ClinGen Ensembl |
|
|
CA10415628 rs782782534 |
196 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 204 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868966531 CA413192746 |
204 | S>T | No |
ClinGen Ensembl |
|
|
rs782123575 CA10415627 |
204 | S>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 206 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10415622 rs781981445 |
206 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA10415621 rs782354766 |
207 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1557234340 CA413192687 |
208 | P>L | No |
ClinGen gnomAD |
|
|
rs781934132 CA10415619 |
209 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781934132 CA413192676 |
209 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557234337 CA413192586 |
215 | K>R | No |
ClinGen gnomAD |
|
|
rs782457665 CA10415611 |
218 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1478308629 CA413187361 |
221 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA413187366 rs1232282670 |
221 | G>R | No |
ClinGen TOPMed |
|
|
CA413187349 rs1193061098 |
222 | P>R | No |
ClinGen TOPMed |
|
|
CA413187285 rs1423072073 |
227 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1432838188 CA413187234 |
230 | F>C | No |
ClinGen TOPMed |
|
| TCGA novel | 233 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782676273 CA10415610 |
240 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs782531375 CA10415609 |
242 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA329790426 rs192268620 |
246 | Y>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| TCGA novel | 247 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413186677 rs1464432561 |
249 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs186935944 CA10415608 |
249 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs782706024 | 252 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10415606 rs372440338 |
252 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs781821802 CA10415605 |
252 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA413186575 rs1569544764 |
254 | A>S | No |
ClinGen Ensembl |
|
| TCGA novel | 255 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10415589 rs782648506 |
257 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10415588 rs782591726 |
258 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413186502 rs1474645729 |
259 | I>T | No |
ClinGen TOPMed |
|
|
CA10415586 rs191578798 |
259 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781878735 CA10415584 |
263 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781878735 CA10415583 |
263 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 264 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782769562 CA10415582 |
265 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs782106611 CA10415581 |
267 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1557229238 CA413186375 |
269 | S>R | No |
ClinGen gnomAD |
|
|
rs1415165968 CA413186317 |
273 | N>K | No |
ClinGen TOPMed |
|
|
rs782330185 CA10415579 |
277 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1472284704 CA413186125 |
282 | T>A | No |
ClinGen TOPMed |
|
|
rs370368737 CA10415568 |
283 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413186088 rs1455453343 |
285 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs376014418 CA10415567 |
285 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs782200211 CA10415566 |
286 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1602288142 CA413186074 |
286 | K>R | No |
ClinGen Ensembl |
|
|
rs782460377 CA10415564 |
292 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs781926224 CA10415563 |
293 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10415562 rs782801964 |
294 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA413185987 rs1557229016 |
294 | R>W | No |
ClinGen gnomAD |
|
|
CA413185978 rs1557229015 |
295 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 297 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413185930 rs1557229013 |
298 | E>* | No |
ClinGen Ensembl |
|
|
rs1041873446 CA329790248 |
302 | N>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 303 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10415561 rs369763875 |
303 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10415560 rs781980858 |
309 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228239048 CA413185755 |
310 | G>V | No |
ClinGen TOPMed |
|
|
rs868910484 CA413185742 |
311 | E>D | No |
ClinGen Ensembl |
|
|
CA413185745 rs1557229009 |
311 | E>G | No |
ClinGen gnomAD |
|
|
rs1557229007 CA413185736 |
312 | I>V | No |
ClinGen gnomAD |
|
|
CA413185699 rs1264129706 |
314 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs782204222 CA10415549 |
315 | I>K | No |
ClinGen ExAC gnomAD |
|
|
rs1362418526 CA413184782 |
317 | A>E | No |
ClinGen TOPMed |
|
|
rs782575302 CA10415548 |
318 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 320 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 322 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413184751 rs1557226979 |
322 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA413184735 rs1173649948 |
324 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA413184736 rs1173649948 |
324 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1397376910 CA413184676 |
332 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1436081466 CA413184653 |
335 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs373857888 CA10415542 |
337 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373857888 CA10415543 |
337 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA413184636 rs1310474261 |
337 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA413184631 rs1602280246 |
338 | T>I | No |
ClinGen Ensembl |
|
|
rs1557226971 CA413184625 |
339 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 340 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369981077 CA10415541 |
345 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1333732538 CA413184533 |
347 | S>G | No |
ClinGen TOPMed |
|
|
CA413184528 rs1569544534 |
347 | S>T | No |
ClinGen Ensembl |
|
|
rs782035978 CA10415540 |
353 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA10415539 rs782795257 |
353 | R>S | No |
ClinGen ExAC |
|
|
rs1557226961 CA413184436 |
354 | D>E | No |
ClinGen gnomAD |
|
|
CA413184421 rs1304093647 |
356 | I>V | No |
ClinGen TOPMed |
|
|
rs1557226959 CA413184399 |
357 | I>N | No |
ClinGen gnomAD |
|
|
CA413183953 rs1557226901 |
360 | V>A | No |
ClinGen gnomAD |
|
|
rs1569544515 CA413183942 |
361 | C>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 362 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781853675 CA10415523 |
367 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 370 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782078870 CA10415521 |
370 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782700953 CA10415519 |
372 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA413183754 rs1233066084 |
375 | K>E | No |
ClinGen TOPMed |
|
|
CA413183735 rs1308085573 |
376 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs782352553 CA10415518 |
378 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1319315606 CA413183649 |
381 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 383 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1237518816 CA413183620 |
384 | I>V | No |
ClinGen TOPMed |
|
|
CA413183585 rs1557226887 |
386 | D>E | No |
ClinGen gnomAD |
|
|
rs1557226886 CA413183564 |
388 | L>V | No |
ClinGen gnomAD |
|
|
rs782382127 CA10415516 |
390 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA413183518 rs1569544513 |
392 | A>E | No |
ClinGen Ensembl |
|
|
CA413183503 rs1557226884 |
393 | D>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs369046310 CA10415515 |
395 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1393343600 CA413183444 |
396 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA413183436 rs1557226831 |
397 | M>I | No |
ClinGen gnomAD |
|
|
rs782106489 CA10415498 |
398 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 400 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781926257 CA10415497 |
401 | W>L | No |
ClinGen ExAC |
|
|
rs1414160915 CA413183400 |
402 | V>A | No |
ClinGen TOPMed |
|
|
CA413183404 rs868989883 |
402 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 404 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 406 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10415496 rs782732270 |
406 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1557226824 CA413183364 |
407 | P>H | No |
ClinGen gnomAD |
|
| TCGA novel | 407 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782146354 CA10415495 |
410 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA329789404 rs782429436 |
412 | C>Y | No |
ClinGen Ensembl |
|
|
CA10415494 rs781809811 |
414 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA329789403 rs781799649 |
416 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA10415493 rs61752352 |
417 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA329789402 rs782100146 |
423 | Q>R | No |
ClinGen Ensembl |
|
|
rs973434926 CA329789401 |
425 | L>R | No |
ClinGen Ensembl |
|
|
CA10415491 rs781982506 |
429 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10415490 rs782766230 |
429 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 432 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 432 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782180882 CA10415489 |
436 | T>M | No |
ClinGen ExAC gnomAD |
|
| rs1557226585 | 437 | V>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782098577 CA10415468 |
437 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782098577 CA413183144 |
437 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 440 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10415466 rs782324961 |
442 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413183105 rs782324961 |
442 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782276961 CA10415465 |
444 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA413183033 rs1236836957 |
452 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs61751435 CA329789296 |
454 | H>P | No |
ClinGen Ensembl |
|
|
rs1557226578 CA413183012 |
455 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs200145224 CA10415464 |
455 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10415463 rs200145224 |
455 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 456 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413182978 rs1478801634 |
461 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA10415462 rs782218907 |
462 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs781847916 CA10415460 |
465 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA413182949 rs1557226570 |
466 | D>N | No |
ClinGen gnomAD |
|
|
CA413182939 rs1557226568 |
467 | P>S | No |
ClinGen gnomAD |
|
|
CA10415457 rs184300580 |
470 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781855095 CA329789294 |
471 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781855095 CA10415456 |
471 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1465686753 CA413129606 |
472 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs782547607 CA10415430 |
473 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA10415429 rs781849257 |
474 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413129519 rs1557225767 |
478 | D>G | No |
ClinGen gnomAD |
|
|
CA10415427 rs782103281 |
481 | N>D | No |
ClinGen ExAC |
|
|
CA413129449 rs1371637572 |
481 | N>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 483 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413129384 rs1475375473 |
484 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
CA10415426 rs781795649 |
487 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1557225758 CA413129150 |
497 | N>K | No |
ClinGen gnomAD |
|
|
rs782712184 CA10415425 |
502 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782692314 CA329155025 |
503 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA10415421 rs782135402 |
507 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10415419 rs373977703 |
510 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1557225750 CA413128823 |
514 | Q>K | No |
ClinGen gnomAD |
|
|
CA413128816 rs1557225749 |
514 | Q>R | No |
ClinGen gnomAD |
|
|
CA413128680 rs1557225746 |
521 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs781812700 CA329155013 |
522 | F>L | No |
ClinGen TOPMed |
|
|
CA10415416 rs782398927 |
524 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs1025015981 CA329155003 |
530 | E>K | No |
ClinGen TOPMed |
|
|
rs1274723350 CA413128327 |
534 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 537 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781922017 CA10415403 |
539 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA329154834 rs368674338 |
540 | A>V | No |
ClinGen gnomAD |
|
|
rs1557225660 CA413128173 |
541 | R>C | No |
ClinGen gnomAD |
|
|
CA10415401 rs782143063 |
541 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA413128117 rs868993225 |
543 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1332234474 CA413128115 |
543 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1557225657 CA413128075 |
546 | V>L | No |
ClinGen gnomAD |
|
|
CA413128039 rs782640102 |
547 | C>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1557225654 CA413127947 |
553 | V>M | No |
ClinGen gnomAD |
|
|
rs782513140 CA10415399 |
554 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA413127889 rs1242518687 |
556 | V>I | No |
ClinGen TOPMed |
|
|
CA413127838 rs1557225651 |
558 | S>C | No |
ClinGen gnomAD |
|
|
CA10415397 rs781948124 |
559 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs782207150 CA10415395 |
560 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA10415394 rs782670246 |
562 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 562 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782549921 CA10415393 |
564 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA413127426 rs1557225544 |
574 | I>F | No |
ClinGen gnomAD |
|
|
rs782304901 CA10415373 |
578 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs782627106 CA10415374 |
578 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA10415371 rs368794595 |
579 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs781844759 CA10415370 |
581 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781853811 CA10415369 |
584 | R>C | No |
ClinGen ExAC |
|
|
CA10415368 rs782636042 |
584 | R>H | No |
ClinGen ExAC TOPMed |
|
|
CA413127240 rs1257632090 |
585 | V>I | No |
ClinGen TOPMed |
|
|
CA413127100 rs1557225536 |
592 | W>R | No |
ClinGen gnomAD |
|
|
CA329154564 rs782273327 |
599 | L>P | No |
ClinGen TOPMed |
|
|
rs782521662 CA329154572 |
599 | L>V | No |
ClinGen Ensembl |
|
|
CA10415364 CA413126005 rs782158873 |
604 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10415363 rs781909766 |
606 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 608 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413125917 rs1419042202 |
609 | S>N | No |
ClinGen TOPMed |
|
|
CA413125905 rs1557225530 |
610 | V>M | No |
ClinGen gnomAD |
|
|
rs1557225528 CA413125861 |
612 | I>F | No |
ClinGen gnomAD |
|
|
CA10415361 RCV000967604 rs138086016 |
612 | I>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA413125797 rs1557225524 |
615 | R>T | No |
ClinGen gnomAD |
|
| TCGA novel | 619 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413125560 rs1557225404 |
619 | M>K | No |
ClinGen gnomAD |
|
|
CA413125533 rs1371394864 |
621 | R>C | No |
ClinGen TOPMed |
|
|
rs781873895 CA10415346 |
623 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782732083 CA10415345 |
624 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA413125473 rs1557225400 |
625 | R>K | No |
ClinGen gnomAD |
|
|
rs782100867 CA10415344 |
626 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1557225395 CA413125395 |
628 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 632 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413125289 rs1215227139 |
634 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA413125259 rs1316300703 |
636 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1049282754 CA329154252 |
636 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 638 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 639 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782144056 CA10415341 |
639 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs782144056 CA10415342 |
639 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs183398027 CA10415339 |
640 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs183398027 CA10415340 |
640 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10415329 rs782233573 |
644 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782573415 CA10415328 |
648 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1199456733 CA413124700 |
653 | A>V | No |
ClinGen TOPMed |
|
|
CA329153939 rs987669936 |
655 | E>K | No |
ClinGen Ensembl |
|
|
rs782511416 CA10415323 |
663 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA329153931 rs191258243 |
663 | K>T | No |
ClinGen 1000Genomes |
|
| TCGA novel | 664 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413124399 rs1557225236 |
665 | P>S | No |
ClinGen gnomAD |
|
|
CA10415322 rs185603411 |
669 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1569544298 CA413124249 |
671 | A>T | Variant assessed as Somatic; 6.445e-05 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs781917752 CA10415319 |
672 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1557225105 CA413124059 |
673 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 674 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10415303 rs782695825 |
678 | A>V | No |
ClinGen ExAC |
|
| TCGA novel | 680 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781911817 CA10415301 |
681 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA10415300 rs782769637 |
683 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413123651 rs1295795745 |
688 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs375028509 CA329153671 |
689 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs781926739 CA10415299 |
692 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 693 | I>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413123378 rs1557225092 |
696 | N>K | No |
ClinGen gnomAD |
|
|
CA413123368 rs1402567273 |
697 | N>S | No |
ClinGen TOPMed |
|
|
CA10415296 rs782046357 |
698 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413123104 rs1557225088 |
705 | L>M | No |
ClinGen gnomAD |
|
|
CA10415294 rs782409249 |
706 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA10415279 rs781941852 |
711 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1201764178 CA413122126 |
715 | S>R | No |
ClinGen TOPMed |
|
| TCGA novel | 718 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329153364 rs868927566 |
719 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA10415278 rs782147361 |
720 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA10415277 rs781900729 |
724 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 728 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10415274 rs371382716 |
729 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs781821988 CA10415275 |
729 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557224975 CA413121951 |
730 | A>S | No |
ClinGen gnomAD |
|
|
CA413121949 rs1557224974 |
730 | A>V | No |
ClinGen gnomAD |
|
|
rs782350780 CA10415273 |
733 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782350780 CA413121910 |
733 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1602271261 CA413121897 |
734 | A>T | No |
ClinGen Ensembl |
|
|
CA10415271 rs781936123 |
736 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 745 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782251782 CA10415269 |
747 | P>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 750 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10415267 rs782351289 |
752 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782351289 CA413121640 |
752 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 753 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10415266 rs201585435 |
754 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393596952 CA413121596 |
755 | I>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1330367506 CA413121567 |
757 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA413121490 rs1333447060 |
763 | A>T | No |
ClinGen TOPMed |
|
|
CA10415265 rs782561867 |
766 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 768 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1237967128 CA413121320 |
775 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA413121321 rs1237967128 |
775 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs782465931 CA10415264 |
777 | I>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 777 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413121259 rs1325178346 |
779 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs564901698 CA10415262 |
780 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA413121045 rs1243687601 |
783 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA413120975 rs868962667 |
787 | E>K | No |
ClinGen Ensembl |
|
|
CA413120940 rs1462557401 |
788 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA413120893 rs1181854657 |
790 | Q>E | No |
ClinGen TOPMed |
|
|
CA10415249 rs782311475 |
790 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1367930964 CA413120837 |
792 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs373503137 CA10415248 |
795 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369499183 CA329152987 |
796 | N>K | No |
ClinGen ESP |
|
|
CA413120659 rs1160495543 |
798 | S>N | No |
ClinGen TOPMed |
|
|
rs1557224791 CA413120630 |
800 | T>A | No |
ClinGen gnomAD |
|
|
rs1457061477 CA413120618 |
800 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs782418591 CA10415246 |
803 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413120544 rs1451059168 |
805 | D>N | No |
ClinGen TOPMed |
|
|
CA10415244 rs782637894 |
807 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782690854 CA10415243 |
810 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782231455 CA10415242 |
813 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1442572882 CA413120346 |
814 | S>N | No |
ClinGen TOPMed |
|
|
rs981117085 CA329152968 |
816 | R>* | No |
ClinGen Ensembl |
|
|
CA10415241 rs782545441 |
816 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs781876937 CA10415239 |
817 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781876937 CA10415240 |
817 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA329152957 rs868996213 |
817 | R>H | No |
ClinGen gnomAD |
|
|
rs868996213 CA413120280 |
817 | R>L | No |
ClinGen gnomAD |
|
|
CA10415237 rs782517887 |
818 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs782205634 CA10415226 |
820 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10415225 rs781841687 |
820 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782424463 CA10415224 |
821 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs782287521 CA10415223 |
821 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA413120046 rs868937920 |
822 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA10415222 rs782659693 |
827 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557224715 CA413119901 |
828 | S>T | No |
ClinGen gnomAD |
|
|
rs1557224713 CA413119870 |
829 | S>F | No |
ClinGen gnomAD |
|
|
CA413119793 rs1557224712 |
832 | S>G | No |
ClinGen gnomAD |
|
|
CA413119787 rs782657804 |
832 | S>N | No |
ClinGen 1000Genomes gnomAD |
|
|
rs782657804 CA329152855 |
832 | S>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA10415221 rs375757316 |
833 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 835 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868958653 CA413119667 |
836 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA10415220 rs782238611 |
839 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1247979717 CA413119455 |
842 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 844 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557224703 CA413119428 |
844 | H>Y | No |
ClinGen gnomAD |
|
|
CA10415216 rs782722673 |
847 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781795515 CA10415217 |
847 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413119358 rs781795515 |
847 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782538676 CA10415215 |
850 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782402579 CA10415207 |
850 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10415205 RCV000967603 rs144819611 |
851 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs368247344 CA10415204 |
851 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10415206 rs144819611 |
851 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs868940450 CA413118014 |
852 | F>S | No |
ClinGen Ensembl |
|
|
rs996470723 CA329152661 |
853 | K>R | No |
ClinGen Ensembl |
|
|
rs900811629 CA329152659 |
857 | V>I | No |
ClinGen Ensembl |
|
|
CA10415202 rs782585742 |
861 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA10415201 rs782330201 |
863 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 865 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413117620 rs868952791 |
867 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA413117586 rs1189981512 |
868 | A>T | No |
ClinGen TOPMed |
|
|
CA10415200 rs782274310 |
869 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA413117400 rs1245640137 |
875 | N>S | No |
ClinGen TOPMed |
|
|
rs375771283 CA10415198 |
877 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413117309 rs1557224548 |
878 | R>G | No |
ClinGen gnomAD |
|
|
CA10415197 rs781878595 |
882 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413117205 rs781878595 |
882 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 883 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413117118 rs1557224541 |
886 | N>H | No |
ClinGen gnomAD |
|
|
CA413116885 rs1557224302 |
887 | S>G | No |
ClinGen gnomAD |
|
|
CA413116832 rs1408605183 |
888 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA413116828 rs1170156492 |
888 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 890 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372968387 CA10415189 |
891 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1327414761 CA413116757 |
891 | N>S | No |
ClinGen TOPMed |
|
|
CA413116519 rs1439443042 |
900 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA10415188 rs782128685 |
901 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557224289 CA413116428 |
903 | L>I | No |
ClinGen gnomAD |
|
|
rs187535842 CA10415187 |
906 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs782600344 CA10415186 |
906 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 908 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 908 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557224286 CA413116290 |
909 | R>G | No |
ClinGen gnomAD |
|
|
rs370221683 CA10415185 |
914 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA413116151 rs1557224285 |
914 | R>Q | No |
ClinGen gnomAD |
|
|
rs1294557066 CA413116086 |
918 | E>A | No |
ClinGen TOPMed |
|
|
rs781802804 CA10415174 |
924 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10415173 rs782507084 |
927 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781865988 CA10415172 |
930 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA10415171 rs782445225 |
931 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782445225 CA10415170 |
931 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10415169 rs781815305 |
937 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs782813474 CA10415168 |
938 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA413115488 rs1557224236 |
943 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10415167 rs782160617 |
945 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1557224233 CA413115352 |
949 | S>R | No |
ClinGen gnomAD |
|
|
rs782088324 CA10415164 |
951 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA413115300 rs1442835595 |
952 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1557224228 CA413115258 |
954 | T>A | No |
ClinGen gnomAD |
|
|
CA10415162 rs192492550 |
954 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA329152184 rs1038728010 |
957 | E>D | No |
ClinGen Ensembl |
|
|
CA413114388 rs1398939650 |
960 | A>V | No |
ClinGen TOPMed |
|
|
CA10415148 rs781824281 |
961 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10415147 rs782756939 |
962 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 966 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557224108 CA413114191 |
976 | Q>K | No |
ClinGen gnomAD |
|
|
rs781933403 CA10415144 |
977 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA10415143 rs782796172 |
977 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs868924312 CA413114149 |
978 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs782159939 CA10415142 |
981 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA413114089 rs1569544132 |
983 | I>L | No |
ClinGen Ensembl |
|
|
rs781978930 CA10415141 |
983 | I>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 983 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1602267787 CA413114025 |
986 | H>R | No |
ClinGen Ensembl |
|
|
rs1257278868 CA413114007 |
987 | H>D | No |
ClinGen TOPMed |
|
| TCGA novel | 987 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557224095 CA413113946 |
989 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 993 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413113729 rs1557224053 |
994 | H>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA413113721 rs1602267552 |
994 | H>R | No |
ClinGen Ensembl |
|
|
rs781899207 CA10415124 |
995 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA10415123 rs367689666 |
996 | V>L | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA413113664 rs367689666 |
996 | V>M | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA10415121 rs375942377 |
1002 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782756929 CA10415120 |
1003 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1216424046 CA413113370 |
1007 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA413113373 rs1216424046 |
1007 | P>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1013 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413113239 rs1557224045 |
1013 | E>Q | No |
ClinGen gnomAD |
|
|
CA10415116 rs782118192 |
1015 | W>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1018 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200471112 CA329152156 |
1020 | G>A | No |
ClinGen Ensembl |
|
|
rs868909746 CA413113018 |
1021 | L>P | No |
ClinGen Ensembl |
|
|
rs868984245 CA413113008 |
1022 | I>F | No |
ClinGen Ensembl |
|
|
rs782011500 CA10415115 |
1029 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10415114 rs782351624 |
1029 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413112753 rs1557224036 |
1034 | T>S | No |
ClinGen gnomAD |
|
|
CA413112714 rs1472197343 |
1036 | D>E | No |
ClinGen TOPMed |
|
|
CA10415112 rs782556247 |
1037 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782232470 CA10415113 |
1037 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs928690141 CA329151927 |
1038 | D>G | No |
ClinGen Ensembl |
|
|
rs1557223922 CA413112599 |
1038 | D>N | No |
ClinGen gnomAD |
|
|
rs782787058 CA10415099 |
1043 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA413112485 rs1557223921 |
1045 | M>I | No |
ClinGen gnomAD |
|
|
rs1557223920 CA413112471 |
1046 | W>C | No |
ClinGen gnomAD |
|
|
rs782092435 CA10415098 |
1047 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413112427 rs1557223913 |
1049 | K>N | No |
ClinGen gnomAD |
|
|
CA413112404 rs1557223910 |
1051 | T>N | No |
ClinGen gnomAD |
|
|
CA10415097 rs781979527 |
1054 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs782058321 CA10415095 |
1056 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs782058321 CA413112339 |
1056 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs868927625 CA413112330 |
1056 | A>V | No |
ClinGen Ensembl |
|
|
CA413112318 rs1557223906 |
1057 | P>L | No |
ClinGen gnomAD |
|
|
CA10415094 rs782012721 |
1058 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413112259 rs1557223901 |
1062 | D>G | No |
ClinGen gnomAD |
|
|
rs1263853383 CA413112230 |
1064 | Q>* | No |
ClinGen TOPMed |
|
|
CA413112193 rs1557223900 |
1066 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10415092 rs782189827 |
1068 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs139988151 CA10415091 RCV000892386 |
1069 | S>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs782341862 CA413112111 |
1072 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1557223896 CA413112103 |
1073 | E>K | No |
ClinGen gnomAD |
|
|
CA413112057 rs1193490251 |
1076 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs782564993 CA10415088 |
1079 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs782228365 CA10415089 |
1079 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782550381 CA10415087 |
1080 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs782294298 CA10415086 |
1083 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA413111969 rs1557223887 |
1083 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA413111960 rs1405391471 |
1085 | A>T | No |
ClinGen TOPMed |
|
|
rs1347728443 CA413111905 |
1090 | S>G | No |
ClinGen TOPMed |
|
|
rs1457265185 CA413111873 |
1091 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA329151717 rs782727183 |
1093 | N>D | No |
ClinGen 1000Genomes |
|
|
rs1557223832 CA413111741 |
1094 | D>Y | No |
ClinGen gnomAD |
|
|
rs1602266438 CA413111654 |
1098 | I>F | No |
ClinGen Ensembl |
|
|
rs1557223827 CA413111596 |
1100 | Q>H | No |
ClinGen gnomAD |
|
|
rs1557223826 CA413111581 |
1101 | H>Q | No |
ClinGen gnomAD |
|
|
CA413111564 rs1557223822 |
1102 | V>A | No |
ClinGen gnomAD |
|
|
rs1557223824 CA413111570 |
1102 | V>L | No |
ClinGen gnomAD |
|
|
CA413111540 rs1259432980 |
1104 | V>I | No |
ClinGen TOPMed |
|
|
rs910425461 CA329151698 |
1106 | M>L | No |
ClinGen Ensembl |
|
|
CA10415075 rs782078073 |
1110 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs372991252 CA413111388 |
1111 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10415074 rs372991252 |
1111 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10415072 rs369521039 |
1112 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10415071 rs782038459 |
1113 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs4074320 CA10415070 VAR_048859 |
1118 | D>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA413111213 rs1557223802 |
1119 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 1119 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10415069 rs782258880 |
1120 | F>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1122 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1122 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10415067 rs782503001 |
1122 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557223794 CA413111102 |
1124 | D>E | No |
ClinGen gnomAD |
|
|
CA329151658 rs977116150 |
1126 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA413111007 rs1465128981 |
1129 | M>T | No |
ClinGen TOPMed |
|
|
rs782189272 CA10415066 |
1130 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA10415065 rs782588606 |
1132 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1136 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1136 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782533063 CA10415064 |
1136 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA10415063 rs185005508 |
1137 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371705438 CA10415050 |
1146 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1146 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413109442 rs1240854241 |
1147 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA413109382 rs1557223666 |
1151 | S>G | No |
ClinGen gnomAD |
|
|
CA413109340 rs1443834811 |
1153 | K>R | No |
ClinGen TOPMed |
|
|
CA10415048 rs369063565 |
1154 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1557223662 CA413109330 |
1154 | G>S | No |
ClinGen gnomAD |
|
|
rs369063565 CA10415049 |
1154 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA413109313 rs1557223661 |
1155 | L>V | No |
ClinGen gnomAD |
|
|
CA10415046 rs376854796 |
1157 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1158 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413109232 rs781784401 |
1159 | T>I | No |
ClinGen gnomAD |
|
|
rs781784401 CA329151464 |
1159 | T>N | No |
ClinGen gnomAD |
|
|
CA329151463 rs782709247 |
1160 | T>I | No |
ClinGen Ensembl |
|
|
CA413109215 rs1557223652 |
1161 | A>T | No |
ClinGen gnomAD |
|
|
CA10415045 rs372217757 |
1161 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10415044 rs782256342 |
1166 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA413109127 rs1602265701 |
1166 | K>Q | No |
ClinGen Ensembl |
|
|
rs782070555 CA10415032 |
1168 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1169 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413108801 rs1557223266 |
1170 | S>G | No |
ClinGen gnomAD |
|
|
CA413108745 rs1557223264 |
1172 | E>K | No |
ClinGen gnomAD |
|
|
rs1557223263 CA413108710 |
1173 | D>N | No |
ClinGen gnomAD |
|
|
rs1181730085 CA413108683 |
1173 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs782113988 CA10415029 |
1174 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA10415030 rs782418085 |
1174 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10415026 rs782231491 |
1176 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411038079 CA413108542 |
1179 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1557223252 CA413108523 |
1179 | S>N | No |
ClinGen gnomAD |
|
|
rs969577730 CA329150771 |
1180 | A>D | No |
ClinGen Ensembl |
|
|
rs782057564 CA10415023 |
1180 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782361543 CA329150765 |
1182 | D>E | No |
ClinGen Ensembl |
|
|
CA413108405 rs1557223241 |
1184 | M>T | No |
ClinGen gnomAD |
|
|
rs1557223243 CA413108411 |
1184 | M>V | No |
ClinGen gnomAD |
|
|
rs1409673437 CA413108224 |
1189 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1014279408 CA329150756 |
1190 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 1190 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1015355117 CA329150748 |
1193 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs781827238 CA10415020 |
1194 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs781928499 CA10415019 |
1194 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557223224 CA413108097 |
1195 | D>H | No |
ClinGen gnomAD |
|
|
CA10415018 rs782442852 |
1197 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA10415016 rs782811726 |
1199 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs373607473 CA10415017 |
1199 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10415015 RCV000909854 rs192915815 |
1203 | P>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10415002 rs782594888 |
1207 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs782552872 CA413106998 |
1208 | S>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10415001 rs782552872 |
1208 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs782620144 CA10414999 |
1210 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220876216 CA413106963 |
1210 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA413106929 rs1557223036 |
1212 | S>R | No |
ClinGen gnomAD |
|
|
rs1276499517 CA413106902 |
1213 | R>G | No |
ClinGen TOPMed |
|
|
CA10414997 rs781816071 |
1214 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA413106868 rs1557223025 |
1214 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1216 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329150530 rs956096808 |
1217 | L>P | No |
ClinGen gnomAD |
|
|
CA329150528 rs571444713 |
1219 | I>T | No |
ClinGen Ensembl |
|
|
rs781809441 CA10414994 |
1220 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782791352 CA10414993 |
1222 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868974429 CA413106694 |
1223 | K>R | No |
ClinGen Ensembl |
|
|
rs1557223015 CA413106677 |
1224 | L>S | No |
ClinGen gnomAD |
|
|
rs782158470 CA10414992 |
1225 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413106609 rs1557223011 |
1227 | K>N | No |
ClinGen gnomAD |
|
|
CA10414991 rs782004804 |
1227 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA413106572 rs1203843804 |
1228 | K>N | No |
ClinGen TOPMed |
|
|
CA413106527 rs1557223007 |
1231 | E>K | No |
ClinGen gnomAD |
|
|
rs1479087669 CA413106481 |
1233 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10414989 rs782099622 |
1233 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413106374 rs1425148221 |
1239 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs894850842 CA329150509 |
1239 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1241 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10414988 rs781924107 |
1243 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1170910783 CA413106272 |
1245 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1569543953 CA413106053 |
1247 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA413105994 rs781900712 |
1250 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10414973 rs782780988 |
1250 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10414974 rs781900712 |
1250 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413105971 rs1557222803 |
1251 | R>C | No |
ClinGen gnomAD |
|
|
CA10414972 rs782485451 |
1251 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA413105929 rs1557222801 |
1253 | H>L | No |
ClinGen gnomAD |
|
|
rs1557222798 CA413105912 |
1254 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs782141221 CA10414971 |
1254 | R>H | No |
ClinGen ExAC TOPMed |
|
|
CA329150244 rs373024681 |
1257 | E>V | No |
ClinGen ESP gnomAD |
|
|
CA413105813 rs1011955650 |
1258 | A>G | No |
ClinGen gnomAD |
|
|
CA329150241 rs1011955650 |
1258 | A>V | No |
ClinGen gnomAD |
|
|
rs1557222793 CA413105809 |
1259 | E>K | No |
ClinGen gnomAD |
|
|
rs1557222790 CA413105756 |
1261 | D>A | No |
ClinGen gnomAD |
|
|
rs782026295 CA329150239 |
1262 | D>E | No |
ClinGen gnomAD |
|
|
rs1557222788 CA413105740 |
1262 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 1263 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10414969 rs782708771 |
1265 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413105686 rs782708771 |
1265 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1421262925 CA413105670 |
1266 | P>L | No |
ClinGen TOPMed |
|
|
rs1557222779 CA413105663 |
1267 | S>L | No |
ClinGen gnomAD |
|
|
CA413105655 rs781898926 |
1268 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q5KSL6
5 regional properties for Q5KSL6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Diacylglycerol kinase, accessory domain | 857 - 1014 | IPR000756 |
| domain | Diacylglycerol kinase, catalytic domain | 487 - 622 | IPR001206 |
| domain | Pleckstrin homology domain | 216 - 311 | IPR001849 |
| domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | 327 - 377 | IPR002219-1 |
| domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | 398 - 449 | IPR002219-2 |
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 | |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 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. |
| metal ion binding | Binding to a metal ion. |
6 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. |
| 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). |
| response to oxidative stress | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDRGAAAAQG | TAPPQDGEQP | AESPEPPPPW | PPPPPPPAPP | PAPPLLSEAS | PEPIPEPCPE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LAPGPCPEAT | SESATELYTE | PTPEPATEPA | SEPAPEPATE | PAPEPATEPA | PEPAPEPATE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SAPEPTPEPA | LESVPEPAPE | LTPEVAPELA | PEPTPEPVTE | LAPEFCPEAA | PEFRPSPAPC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LLQCPVDTRE | RGLKTSPSPS | PSPSPRTPMS | WSRIKKILKE | GPMLKNCNSF | KRWKLRYFLV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QGQKLYFAHH | PAFAHFETID | LSQATVAESS | CRNLCHSFCV | ITPQRKITLA | APNRKDMEEW |
| 310 | 320 | 330 | 340 | 350 | 360 |
| INIIKTIQQG | EIYKIPAAEN | NPFLVGMHCW | YSSYSHRTQH | CNVCRESIPA | LSRDAIICEV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CKVKSHRLCA | LRASKDCKWN | TLSITDDLLL | PADEVNMPHQ | WVEGNMPVSS | QCAVCHESCG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SYQRLQDFRC | LWCNSTVHDD | CRRRFSKECC | FRSHRSSVIP | PTALSDPKGD | GQLVVSSDFW |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NLDWSSACSC | PLLIFINSKS | GDHQGIVFLR | KFKQYLNPSQ | VFDLLKGGPE | AGLSMFKNFA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RFRILVCGGD | GSVSWVLSLI | DAFGLHEKCQ | LAVIPLGTGN | DLARVLGWGA | FWNKSKSPLD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ILNRVEQASV | RILDRWSVMI | RETPRQTPLL | KGQVEMDVPR | FEAAAIQHLE | SAATELNKIL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KAKYPTEMII | ATRFLCSAVE | DFVVDIVKAW | GQIKQNNTAI | VSVILKSDLM | YDRLSVLIDV |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LAEEAAATSA | EKSATEYADS | SKADRKPFIP | QIDHIAKCKL | ELATKAQSLQ | KSLKLIIFQV |
| 790 | 800 | 810 | 820 | 830 | 840 |
| EQALDEESRQ | TISVKNFSST | FFLEDDPEDI | NQTSPRRRSR | RGTLSSISSL | KSEDLDNLNL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| DHLHFTPESI | RFKEKCVMNN | YFGIGLDAKI | SLDFNTRRDE | HPGQYNSRLK | NKMWYGLLGT |
| 910 | 920 | 930 | 940 | 950 | 960 |
| KELLQRSYRK | LEERVHLECD | GETISLPNLQ | GIVVLNITSY | AGGINFWGSN | TATTEYEAPA |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| IDDGKLEVVA | IFGSVQMAMS | RIINLHHHRI | AQCHEVMITI | DGEEGIPVQV | DGEAWIQRPG |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| LIKIRYKNAA | QMLTRDRDFE | NSMKMWEYKH | TEIQAAPQPQ | LDFQDSQESL | SDEEYAQMQH |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| LARLAENLIS | KLNDLSKIHQ | HVSVLMGSVN | ASANILNDIF | YGQDSGNEMG | AASCIPIETL |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| SRNDAVDVTF | SLKGLYDDTT | AFLDEKLLRS | AEDETALQSA | LDAMNKEFKK | LSEIDWMNPI |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| FVPEEKSSDT | DSRSLRLKIK | FPKLGKKKVE | EERKPKSGQS | VQSFIGNLWH | RRHREDEAEG |
| 1270 | |||||
| DDPLTPSRSQ | L |