Q8NHP8
PR
Gene name |
PLBD2 |
Protein name |
Putative phospholipase B-like 2 |
Names |
76 kDa protein, p76, LAMA-like protein 2, Lamina ancestor homolog 2, Phospholipase B domain-containing protein 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:196463 |
EC number |
|
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 Q8NHP8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8NHP8-F1 | Predicted | AlphaFoldDB |
529 variants for Q8NHP8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 2 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1351671566 CA386850119 |
2 | V>M | No |
ClinGen gnomAD |
|
|
rs371619381 CA6806579 |
4 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243808271 rs952288810 CA386850136 |
4 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs751610979 CA6806580 |
5 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs986360256 CA243808273 |
5 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1404652264 CA386850138 |
5 | M>L | No |
ClinGen TOPMed |
|
|
rs986360256 CA386850141 |
5 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs986360256 CA386850140 |
5 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6806581 rs532558094 |
6 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386850152 rs781381800 |
7 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs781381800 CA6806582 |
7 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA243808334 rs910727871 |
8 | Y>H | No |
ClinGen TOPMed |
|
|
CA243808385 rs202030136 |
9 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386850165 rs1226075654 |
9 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA243808399 rs202030136 |
9 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202030136 CA6806583 |
9 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386850170 rs1207968903 |
10 | G>D | No |
ClinGen gnomAD |
|
|
CA386850168 rs777585011 |
10 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777585011 CA6806585 |
10 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1041377886 CA243808456 |
12 | H>Y | No |
ClinGen TOPMed |
|
|
CA386850192 rs1452975023 |
13 | L>R | No |
ClinGen gnomAD |
|
|
rs1485581664 CA386850198 |
14 | A>D | No |
ClinGen gnomAD |
|
|
rs1252961880 CA386850195 |
14 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA386850193 rs1252961880 |
14 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1435208808 CA386850200 |
15 | R>W | No |
ClinGen TOPMed |
|
|
rs1380069756 CA386850207 |
16 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs960087950 CA243808502 |
16 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA386850212 rs1371452053 |
17 | L>P | No |
ClinGen gnomAD |
|
|
rs1156725507 CA386850215 |
18 | T>A | No |
ClinGen TOPMed |
|
|
CA386850222 rs912915152 |
19 | R>L | No |
ClinGen TOPMed |
|
|
rs912915152 CA243808553 |
19 | R>Q | No |
ClinGen TOPMed |
|
|
CA243808539 rs992484624 |
19 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA386850228 rs1312382716 |
20 | A>V | No |
ClinGen gnomAD |
|
|
rs1249741595 CA386850237 |
22 | A>E | No |
ClinGen gnomAD |
|
|
rs1304164084 CA386850235 |
22 | A>P | No |
ClinGen gnomAD |
|
|
CA386850236 rs1304164084 |
22 | A>S | No |
ClinGen gnomAD |
|
|
rs1249741595 CA386850239 |
22 | A>V | No |
ClinGen gnomAD |
|
|
CA386850252 rs1364942184 |
25 | L>V | No |
ClinGen TOPMed |
|
|
rs1292780352 CA386850259 |
26 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA386850256 rs1317344592 |
26 | V>M | No |
ClinGen gnomAD |
|
|
CA386850269 rs1437062934 |
28 | A>S | No |
ClinGen TOPMed |
|
|
rs1014501770 CA243808597 |
30 | L>P | No |
ClinGen TOPMed |
|
|
rs775199853 CA6806593 |
37 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483685403 CA386850328 |
38 | L>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 40 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1414459507 CA386850344 |
41 | A>P | No |
ClinGen TOPMed |
|
|
rs1432645600 CA386850349 |
42 | I>V | No |
ClinGen TOPMed |
|
|
rs866362473 CA243808622 |
43 | P>L | No |
ClinGen Ensembl |
|
|
CA386850362 rs933416752 |
44 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA243808628 rs933416752 |
44 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1469246251 CA386850370 |
45 | P>L | No |
ClinGen TOPMed |
|
|
CA6806595 rs770150250 |
45 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA386850375 rs1432579541 |
46 | G>V | No |
ClinGen gnomAD |
|
|
rs1178004154 CA386850379 |
47 | G>C | No |
ClinGen gnomAD |
|
|
CA386850380 rs1359566542 |
47 | G>D | No |
ClinGen gnomAD |
|
|
rs773627499 CA386850386 |
48 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773627499 CA6806597 |
48 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181069681 CA386850388 |
49 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1181069681 CA386850390 |
49 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs200189038 CA6806600 |
52 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6806598 rs763493386 |
52 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6806599 rs763493386 |
52 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6806601 rs759609363 |
53 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6806602 rs767638888 |
53 | G>V | No |
ClinGen ExAC |
|
|
CA386850420 rs1232798553 |
54 | Q>* | No |
ClinGen gnomAD |
|
|
rs7965471 CA6806603 VAR_062187 |
54 | Q>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs7965471 CA386850421 |
54 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1215329259 CA386850425 |
55 | V>I | No |
ClinGen gnomAD |
|
|
CA6806604 rs755882599 |
56 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466265449 CA386850432 |
56 | P>S | No |
ClinGen gnomAD |
|
|
rs777583764 CA6806605 |
57 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243808700 rs369606911 |
57 | P>T | No |
ClinGen gnomAD |
|
|
rs966258820 CA243808702 |
59 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA386850446 rs1192899299 |
59 | S>P | No |
ClinGen gnomAD |
|
|
rs1156405847 CA386850453 |
60 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA386850454 rs1390397391 |
60 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1156405847 CA386850451 |
60 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA386850462 rs1457262047 |
61 | S>N | No |
ClinGen gnomAD |
|
|
rs1324602923 CA386850463 |
61 | S>R | No |
ClinGen gnomAD |
|
|
rs369374947 CA386850467 |
62 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
COSM392846 rs369374947 CA243808715 |
62 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA6806606 rs183718103 |
62 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757308489 CA6806607 |
63 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs914042514 CA243808730 |
65 | L>V | No |
ClinGen TOPMed |
|
|
rs745435969 CA6806609 |
67 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223595118 CA386850490 |
67 | D>N | No |
ClinGen gnomAD |
|
|
rs945804375 CA243808738 |
70 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200598022 CA243808743 |
71 | G>D | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA386850523 rs1223666273 |
72 | Q>R | No |
ClinGen gnomAD |
|
|
CA6806610 rs771636828 |
75 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1482037856 CA386850546 |
76 | V>L | No |
ClinGen TOPMed |
|
|
rs1175285086 CA386850562 |
78 | G>* | No |
ClinGen gnomAD |
|
|
CA6806611 rs779582368 |
78 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA386850568 rs1257453279 |
79 | R>H | No |
ClinGen TOPMed |
|
|
rs868274003 CA243808781 |
81 | P>T | No |
ClinGen gnomAD |
|
|
CA386850592 rs1391650085 |
83 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1406609247 CA386850597 |
83 | A>V | No |
ClinGen gnomAD |
|
|
rs867186462 CA243808783 |
84 | V>M | No |
ClinGen Ensembl |
|
|
CA6806613 rs373147310 |
87 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1384462400 CA386850627 |
88 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1306527367 CA386850645 |
91 | N>D | No |
ClinGen gnomAD |
|
|
rs959788864 CA243808819 |
92 | A>T | No |
ClinGen gnomAD |
|
|
rs1019924029 CA386850666 |
94 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1019924029 CA243808830 |
94 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs376923426 CA6806614 |
94 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs868225249 CA243808836 |
95 | E>* | No |
ClinGen Ensembl |
|
|
rs371402484 CA243808842 |
95 | E>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs967034229 CA243808862 |
97 | G>V | No |
ClinGen Ensembl |
|
|
rs1430745120 CA386852504 |
98 | W>* | No |
ClinGen gnomAD |
|
|
rs1173435324 CA386852508 |
99 | A>P | No |
ClinGen gnomAD |
|
|
CA6806634 rs771228321 |
99 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6806636 rs746333066 |
103 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6806637 rs772427909 |
105 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA386852546 rs1433009949 |
105 | T>R | No |
ClinGen gnomAD |
|
|
CA6806638 rs775686686 |
108 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243820712 rs891281736 |
109 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1365884278 CA386852573 |
109 | Y>C | No |
ClinGen gnomAD |
|
|
CA243820728 rs942859360 |
112 | S>R | No |
ClinGen Ensembl |
|
|
CA386852617 rs1346929485 |
115 | A>G | No |
ClinGen gnomAD |
|
|
CA386852615 rs1008670641 |
115 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1008670641 CA243820740 |
115 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs776924065 CA6806641 |
116 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6806643 rs765071928 |
119 | G>S | Variant assessed as Somatic; 5.126e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386852643 rs1250398758 |
120 | V>M | No |
ClinGen gnomAD |
|
|
CA386852668 rs1450601761 |
123 | A>V | No |
ClinGen gnomAD |
|
|
CA6806644 rs750215599 |
124 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376280971 CA386852674 |
125 | V>M | No |
ClinGen gnomAD |
|
|
CA6806645 rs758414090 |
126 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386852690 rs1384557856 |
127 | E>V | No |
ClinGen gnomAD |
|
|
CA386852695 rs1159340847 |
128 | E>* | No |
ClinGen gnomAD |
|
|
rs1455673542 CA386852696 |
128 | E>A | No |
ClinGen gnomAD |
|
|
rs145093195 CA243822536 |
130 | I>V | No |
ClinGen ESP TOPMed |
|
|
rs529862419 CA6806675 |
131 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 132 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386853225 rs1372901102 |
132 | M>R | No |
ClinGen TOPMed |
|
|
CA6806676 rs369690472 |
135 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs770211996 CA6806677 |
137 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6806681 rs774378701 |
143 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA6806680 rs139558954 |
143 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1565860259 CA386853312 |
144 | P>L | No |
ClinGen Ensembl |
|
|
CA243822574 rs995152986 |
146 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs995152986 CA386853322 |
146 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1360279695 CA386853333 |
147 | Y>F | No |
ClinGen gnomAD |
|
|
CA386853330 rs1418104073 |
147 | Y>H | No |
ClinGen TOPMed |
|
|
COSM1242666 CA6806684 rs375998997 |
150 | G>S | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1321859358 CA386853363 |
151 | Y>* | No |
ClinGen gnomAD |
|
|
CA386853373 rs763737888 |
153 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3782699 CA6806686 rs763737888 |
153 | E>K | Variant assessed as Somatic; 4.635e-05 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM935428 rs1340405908 CA386853381 |
154 | R>K | Variant assessed as Somatic; 4.635e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA386853391 rs1298762597 |
156 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 157 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386853401 rs1316524259 |
157 | S>G | No |
ClinGen TOPMed |
|
|
rs758810897 CA6806688 |
158 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1012769779 CA243822591 |
158 | F>V | No |
ClinGen Ensembl |
|
|
CA386853438 rs1483028587 |
162 | N>K | No |
ClinGen gnomAD |
|
|
CA6806689 rs780238648 |
164 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424535917 CA386853453 |
165 | W>R | No |
ClinGen gnomAD |
|
|
CA6806690 rs200606750 |
167 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386853473 rs200606750 |
167 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA243822601 rs998809994 |
168 | E>K | No |
ClinGen TOPMed |
|
|
rs1593283634 CA386853511 |
172 | S>A | No |
ClinGen Ensembl |
|
|
CA386853530 rs1168960886 |
175 | D>H | No |
ClinGen gnomAD |
|
|
CA6806693 rs748247018 |
176 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1302635385 CA386853538 |
176 | S>A | No |
ClinGen TOPMed |
|
|
rs1403595451 CA386853546 |
177 | P>R | No |
ClinGen TOPMed |
|
|
CA386853886 rs571164959 |
182 | V>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA243823421 rs571164959 |
182 | V>M | No |
ClinGen 1000Genomes gnomAD |
|
|
CA6806714 rs777756843 |
183 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386853892 rs1156572600 |
183 | R>W | No |
ClinGen gnomAD |
|
|
CA243823427 rs376523175 |
184 | L>P | No |
ClinGen ESP |
|
|
rs1593284753 CA386853901 |
185 | T>N | No |
ClinGen Ensembl |
|
|
CA243823431 rs985701911 |
185 | T>S | No |
ClinGen Ensembl |
|
|
CA386853906 rs1457312280 |
186 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 188 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6806715 rs749364944 |
191 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA386853946 rs1435002758 |
193 | E>* | No |
ClinGen gnomAD |
|
|
CA386853967 rs1295633749 |
195 | S>I | No |
ClinGen gnomAD |
|
|
rs1228012921 CA386853980 |
197 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA386853994 rs1331253635 |
199 | R>C | No |
ClinGen gnomAD |
|
|
CA6806716 rs757476461 |
199 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386853996 rs757476461 |
199 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386853995 rs757476461 |
199 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779192016 CA6806717 |
201 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1223741084 CA386854010 |
202 | F>V | No |
ClinGen gnomAD |
|
|
rs1247050112 CA386854021 |
203 | P>Q | No |
ClinGen gnomAD |
|
|
rs12231990 CA243823459 |
204 | A>V | No |
ClinGen Ensembl |
|
|
rs910940553 CA243823474 |
205 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6806718 rs145617753 |
205 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386854040 rs1405221192 |
206 | K>N | No |
ClinGen gnomAD |
|
|
rs1593284813 CA386854042 |
207 | F>L | No |
ClinGen Ensembl |
|
|
rs1450922264 CA386854058 |
209 | I>T | No |
ClinGen TOPMed |
|
|
CA6806720 rs148893082 |
209 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386854077 rs1565860973 |
212 | L>* | No |
ClinGen Ensembl |
|
|
CA386854117 rs1276083176 |
216 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6806739 rs746780787 |
219 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA386854134 rs1393661164 |
219 | L>H | No |
ClinGen TOPMed |
|
|
CA6806740 rs564114452 |
220 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs564114452 CA243823627 |
220 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386854156 rs1593285051 |
223 | L>M | No |
ClinGen Ensembl |
|
|
rs1396285178 CA386854160 |
224 | E>K | No |
ClinGen TOPMed |
|
|
CA386854188 rs1392411845 |
227 | E>D | No |
ClinGen gnomAD |
|
|
rs1172149443 CA386854194 |
229 | A>T | No |
ClinGen gnomAD |
|
|
rs1400359957 CA386854201 |
230 | L>V | No |
ClinGen gnomAD |
|
|
rs1164989282 CA386854209 |
231 | N>S | No |
ClinGen TOPMed |
|
|
rs747629350 CA6806742 |
232 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6806743 rs769302794 |
232 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6806744 rs769302794 |
232 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762735757 CA6806745 |
234 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1299738077 CA386854237 |
235 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6806746 rs868596404 |
237 | P>T | No |
ClinGen TOPMed |
|
|
CA386854255 rs770686211 |
238 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA6806748 rs770686211 |
238 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA243823658 rs770991605 |
241 | S>A | No |
ClinGen Ensembl |
|
| TCGA novel | 241 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6806749 rs540131201 |
242 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6806750 rs761114976 COSM201324 |
244 | C>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA243823679 rs1035857446 |
244 | C>Y | No |
ClinGen TOPMed |
|
|
CA243823686 rs969049751 |
246 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 247 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1207311130 CA386854316 |
249 | K>R | No |
ClinGen gnomAD |
|
|
rs765316447 CA6806754 |
250 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386854327 rs1198634361 |
251 | L>F | No |
ClinGen gnomAD |
|
|
rs1376334933 CA386854329 |
251 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA386854337 rs1481534771 |
253 | G>S | No |
ClinGen gnomAD |
|
|
rs139554738 CA6806755 |
254 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745884386 CA243823705 |
255 | S>R | No |
ClinGen Ensembl |
|
|
rs758665072 CA6806756 |
257 | L>V | No |
ClinGen ExAC gnomAD |
|
|
COSM430401 CA386854402 rs1372718518 |
261 | H>R | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA6806758 rs751363091 |
263 | T>I | No |
ClinGen ExAC |
|
|
rs1321310742 CA386854465 |
265 | N>S | No |
ClinGen gnomAD |
|
|
rs1321310742 CA386854470 |
265 | N>T | No |
ClinGen gnomAD |
|
|
rs754748249 CA6806759 |
267 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA386854503 rs1332667015 |
267 | Y>C | No |
ClinGen gnomAD |
|
|
CA386854512 rs1326081792 |
268 | Q>E | No |
ClinGen TOPMed |
|
|
CA386854553 rs1287322580 |
270 | M>L | No |
ClinGen gnomAD |
|
|
rs781017550 CA6806760 |
272 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141234639 CA6806761 |
272 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141234639 CA386854584 |
272 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1262972324 CA386854601 |
274 | I>V | No |
ClinGen gnomAD |
|
|
rs1351987223 CA386854622 |
275 | K>R | No |
ClinGen gnomAD |
|
|
rs976484841 CA243823726 |
281 | F>V | No |
ClinGen gnomAD |
|
|
rs777476005 CA6806764 |
282 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769587953 CA6806763 |
282 | R>W | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 283 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386854753 rs1464151106 |
283 | E>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 285 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1161343435 CA386854775 |
286 | W>C | No |
ClinGen gnomAD |
|
|
CA386855561 rs1311161689 |
287 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs748795079 CA6806765 |
287 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748795079 CA6806766 |
287 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145046658 CA6806784 |
288 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1169233722 CA386855609 |
289 | Y>S | No |
ClinGen TOPMed |
|
|
rs563788606 CA6806785 |
290 | P>L | No |
ClinGen ExAC |
|
|
rs779216821 CA243826164 |
292 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA386855661 rs779216821 |
292 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs779216821 CA386855664 |
292 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA386855680 rs1340564006 |
293 | P>S | No |
ClinGen gnomAD |
|
|
rs1482938965 CA386855700 |
294 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA243826168 rs563907346 |
294 | G>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA243826170 rs138911708 |
295 | N>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6806786 rs368424002 |
298 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386855760 rs368424002 |
298 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1483794566 CA386855753 |
298 | V>I | No |
ClinGen TOPMed |
|
|
rs528213735 CA6806787 |
299 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6806788 rs76893194 |
300 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386855778 rs1430098113 |
300 | S>F | No |
ClinGen gnomAD |
|
|
CA386855786 rs1358255192 |
301 | S>C | No |
ClinGen gnomAD |
|
|
CA243826178 rs1044850920 |
302 | Y>C | No |
ClinGen Ensembl |
|
|
CA386855805 rs1338106544 |
303 | P>S | No |
ClinGen gnomAD |
|
|
rs773654982 CA6806790 |
304 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763047067 CA6806791 |
306 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA386855832 rs1411440674 |
306 | I>V | No |
ClinGen TOPMed |
|
|
rs1372583622 CA386855866 |
309 | C>Y | No |
ClinGen TOPMed |
|
|
CA6806792 rs766410625 |
310 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs536795117 CA6806793 |
311 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386855888 rs536795117 |
311 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759852850 CA6806795 |
314 | I>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 315 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767622584 CA6806796 |
316 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1167509311 CA386855948 |
317 | S>G | No |
ClinGen TOPMed |
|
|
CA386855953 rs1593288739 |
317 | S>N | No |
ClinGen Ensembl |
|
|
rs1593290650 CA386856129 |
320 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 320 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6806819 rs753650495 |
323 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA386856174 rs1346355751 |
325 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6806820 rs757304852 |
326 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA386856185 rs1230385599 |
326 | I>V | No |
ClinGen gnomAD |
|
|
rs868280581 CA243827272 |
328 | N>K | No |
ClinGen Ensembl |
|
| TCGA novel | 329 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386856232 rs1277843807 |
330 | N>S | No |
ClinGen gnomAD |
|
|
rs977039373 CA243827274 |
331 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs977039373 CA386856241 |
331 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs796098352 CA243827276 |
332 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA243827279 rs922808577 |
334 | W>C | No |
ClinGen TOPMed |
|
|
CA386856274 rs1273901463 |
334 | W>L | No |
ClinGen gnomAD |
|
|
CA6806822 rs750013690 |
335 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350867108 CA386856301 |
336 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs150445091 CA243827284 |
338 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243827287 rs775293428 |
338 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs150445091 CA6806823 |
338 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754597488 CA6806826 |
339 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs116994975 CA243827290 |
339 | P>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA6806827 rs200793819 |
341 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386856405 rs1413742341 |
345 | E>* | No |
ClinGen gnomAD |
|
|
CA386856436 rs1443372346 |
346 | W>C | No |
ClinGen gnomAD |
|
|
rs1179428755 CA386856420 |
346 | W>R | No |
ClinGen TOPMed |
|
|
CA386856440 rs1458882582 |
347 | V>L | No |
ClinGen TOPMed |
|
|
CA6806829 rs199763130 |
348 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA243827298 rs149632527 |
348 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 348 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369730573 CA6806830 |
349 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6806831 rs745972117 |
350 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs555908915 CA6806833 |
351 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs555908915 CA6806834 |
351 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386856513 rs1230071144 |
352 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 353 | N>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6806835 rs56935204 |
354 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776623243 CA6806836 |
354 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765222646 CA6806838 |
357 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA386856630 rs1193648882 |
359 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs111420851 CA243827312 |
360 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs111420851 CA6806840 COSM4146660 |
360 | A>T | thyroid [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs147166238 CA6806841 |
361 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386856679 rs1407186302 |
362 | W>R | No |
ClinGen TOPMed |
|
|
rs751050717 CA6806842 |
363 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs754683327 CA6806843 |
365 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA386856786 rs1460364076 |
367 | K>T | No |
ClinGen gnomAD |
|
|
rs199791537 CA243827316 |
368 | R>K | No |
ClinGen Ensembl |
|
|
CA386856815 rs1593290874 |
369 | F>V | No |
ClinGen Ensembl |
|
|
CA386856830 rs1186041518 |
370 | N>D | No |
ClinGen gnomAD |
|
|
rs757508856 CA6806846 |
373 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1198896773 CA386856922 |
374 | Y>C | No |
ClinGen gnomAD |
|
|
CA386856932 rs1419673873 |
375 | N>Y | No |
ClinGen TOPMed |
|
|
CA243827485 rs868118614 |
377 | Q>K | No |
ClinGen Ensembl |
|
|
rs772938192 CA6806874 |
378 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs749109072 CA6806875 |
381 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA386857030 rs1451543400 |
384 | K>E | No |
ClinGen gnomAD |
|
|
CA6806876 rs529313186 |
384 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA6806877 rs368832479 |
385 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 386 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766971280 CA6806880 |
387 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA6806879 rs766971280 |
387 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs763788800 CA6806882 |
388 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760289570 CA6806881 |
388 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6806884 rs758721240 |
389 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386857083 rs758721240 |
389 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237430439 CA386857087 |
389 | G>V | No |
ClinGen gnomAD |
|
|
rs1351786834 CA386857112 |
391 | P>L | No |
ClinGen gnomAD |
|
|
rs1267503394 CA386857106 |
391 | P>S | No |
ClinGen TOPMed |
|
|
CA243827505 rs759667955 |
392 | S>G | No |
ClinGen Ensembl |
|
|
rs1290104030 CA386857123 |
392 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA386857131 rs1223590570 |
393 | P>R | No |
ClinGen gnomAD |
|
|
rs767004586 CA6806885 |
393 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386857143 rs1565864881 |
394 | G>E | No |
ClinGen Ensembl |
|
|
rs145677929 CA6806889 |
394 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6806888 rs145677929 |
394 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386857164 rs201743865 |
396 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201743865 CA6806892 |
396 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6806891 rs748247412 |
396 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA243827517 rs559824346 |
397 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs559824346 CA386857167 |
397 | V>M | No |
ClinGen gnomAD |
|
|
CA386857177 rs1161415183 |
398 | L>F | No |
ClinGen gnomAD |
|
|
CA6806893 rs777989257 |
398 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA386857192 rs1424897627 |
400 | I>L | No |
ClinGen gnomAD |
|
|
CA386857207 rs1302110411 |
401 | L>Q | No |
ClinGen TOPMed |
|
|
CA6806894 rs749053924 |
402 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs770666323 CA6806895 |
404 | I>M | No |
ClinGen ExAC gnomAD |
|
| rs745644781 | 405 | P>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6806896 rs774300636 |
405 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772064239 CA6806915 |
406 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243827604 rs915540380 |
406 | G>V | No |
ClinGen Ensembl |
|
|
rs1185692906 CA386857281 |
410 | V>A | No |
ClinGen gnomAD |
|
|
rs1185692906 CA386857279 |
410 | V>G | No |
ClinGen gnomAD |
|
|
rs775975416 CA6806919 |
412 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs746513322 CA6806917 |
412 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs746513322 CA6806918 |
412 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6806920 rs775975416 |
412 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA386857305 rs1170716496 |
414 | T>I | No |
ClinGen gnomAD |
|
|
CA6806922 rs151184006 |
415 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6806921 rs769557818 |
415 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6806923 rs199596979 |
416 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386857314 rs1238378034 |
416 | E>G | No |
ClinGen TOPMed |
|
|
rs768155577 CA6806925 |
418 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768155577 CA386857327 |
418 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753201470 CA6806926 |
421 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA386857355 rs1384067851 |
422 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs760703109 CA6806927 |
423 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA243827624 rs893427834 |
424 | A>T | No |
ClinGen TOPMed |
|
|
rs1565865101 CA386857373 |
425 | S>G | No |
ClinGen Ensembl |
|
|
rs753836513 CA6806929 |
428 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757529097 CA6806930 |
429 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs757529097 CA386857406 |
429 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA386857430 CA386857431 rs183678191 |
431 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM935431 rs757825711 CA6806961 |
432 | E>K | endometrium Variant assessed as Somatic; 4.627e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs375833897 CA6806962 |
434 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs922155849 CA243828201 |
436 | N>S | No |
ClinGen TOPMed |
|
|
rs765258479 CA6806965 |
437 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA243828209 rs932183571 |
439 | G>R | No |
ClinGen TOPMed |
|
|
CA243828212 rs988032174 |
439 | G>V | No |
ClinGen TOPMed |
|
|
rs1234160785 CA386857490 |
441 | Q>P | No |
ClinGen gnomAD |
|
|
rs374268899 CA6806967 |
442 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1195770510 CA386857519 |
446 | Q>* | No |
ClinGen TOPMed |
|
|
rs1443194129 CA386857522 |
446 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs912335636 CA243828216 |
446 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA386857532 rs1165665933 |
448 | G>R | No |
ClinGen gnomAD |
|
|
rs200723232 CA6806968 |
450 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751374053 CA6806969 |
453 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA386857585 rs1336013027 |
455 | G>E | No |
ClinGen gnomAD |
|
|
rs752646222 CA6806972 |
455 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386857591 rs1382953696 |
456 | S>I | No |
ClinGen TOPMed |
|
|
CA386857598 rs1380239057 |
457 | P>S | No |
ClinGen gnomAD |
|
|
rs756092775 CA6806974 |
458 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 458 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6806975 rs750718060 |
458 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756092775 CA6806973 |
458 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243828240 rs866885404 |
459 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
COSM546620 CA386857615 rs551944264 |
460 | Q>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs768853771 CA386857634 |
463 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6806979 rs768853771 |
463 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6806978 rs759845745 |
463 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6806981 rs748693541 |
464 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777151961 CA6806980 |
464 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770273877 CA6806982 |
465 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA386857672 rs1261741780 |
470 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1593292936 CA386857674 |
470 | Q>R | No |
ClinGen Ensembl |
|
|
COSM691986 CA386857693 CA243828253 rs904153977 |
472 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA386857687 rs1475208531 |
472 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 473 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6806984 rs201934837 |
475 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6806983 rs773348718 |
475 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs574060458 CA6806985 |
476 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA386857743 rs1446637834 |
480 | R>K | No |
ClinGen TOPMed |
|
|
rs1593293303 COSM1476152 CA386857770 |
482 | N>S | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs200223971 CA6807005 |
483 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200223971 CA6807004 |
483 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6807006 rs759728668 |
485 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772412552 CA6807007 |
486 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA6807011 rs144131702 |
495 | C>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6807013 rs764692068 |
496 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749925671 CA6807014 |
497 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 498 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386857877 rs1464869288 |
498 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA386857875 rs1266790310 |
498 | Q>R | No |
ClinGen gnomAD |
|
|
CA6807015 rs758115405 |
500 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6807017 rs753073257 |
502 | E>K | No |
ClinGen ExAC |
|
|
rs756421818 CA6807018 |
504 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6807019 rs778286901 |
505 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA243828477 rs1016832066 |
507 | A>D | No |
ClinGen gnomAD |
|
|
CA243828475 rs368889136 |
507 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6807021 rs368889136 |
507 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6807022 rs552764818 |
508 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6807023 COSM3416512 rs745951952 |
508 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA386857935 rs745951952 |
508 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs202237058 CA386857940 |
509 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs963552968 CA243828483 |
509 | S>T | No |
ClinGen gnomAD |
|
|
CA6807024 rs202237058 |
509 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs542109079 CA6807027 |
510 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM3398381 CA6807026 rs746818510 |
510 | D>N | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1489610938 CA386857959 |
512 | N>K | No |
ClinGen gnomAD |
|
|
rs1289905131 CA386857956 |
512 | N>T | No |
ClinGen gnomAD |
|
|
CA6807029 rs375739105 |
513 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386857963 rs1281604818 |
513 | P>S | No |
ClinGen Ensembl |
|
|
CA386857966 rs1230804239 |
514 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 515 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243828503 rs927038670 |
515 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 517 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1593293450 CA386857992 |
518 | Y>H | No |
ClinGen Ensembl |
|
|
CA386858004 rs1180432539 |
519 | P>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 520 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs17852787 CA243828513 |
521 | Q>K | No |
ClinGen Ensembl |
|
|
rs751173357 CA6807034 |
523 | L>P | No |
ClinGen ExAC gnomAD |
|
|
VAR_032075 rs12425042 CA6807035 |
524 | R>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA386858032 rs1458142574 |
524 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1166796561 CA386858038 |
525 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6807036 rs145022094 |
526 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs940587566 CA243828523 |
526 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6807037 rs754219372 |
527 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA386858056 rs1593293515 |
528 | H>P | No |
ClinGen Ensembl |
|
|
CA6807038 rs545846165 |
529 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386858063 rs1197185107 |
529 | G>V | No |
ClinGen TOPMed |
|
|
CA6807039 rs564045908 |
530 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386858077 rs1245883529 |
532 | D>N | No |
ClinGen gnomAD |
|
|
CA6807041 rs758498982 |
533 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs758700962 CA243828537 |
534 | K>R | No |
ClinGen Ensembl |
|
|
CA386858130 rs1280488614 |
538 | M>V | No |
ClinGen TOPMed |
|
|
CA386858154 rs1322718526 |
541 | A>G | No |
ClinGen gnomAD |
|
|
rs750916792 CA6807058 |
543 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs758942110 CA6807059 |
544 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758942110 CA243828777 |
544 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259191772 CA386858181 |
546 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs113409825 CA243828782 |
547 | L>P | No |
ClinGen Ensembl |
|
|
CA386858192 rs145714005 |
548 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6807061 rs145714005 |
548 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA243828795 rs903151378 |
550 | S>N | No |
ClinGen Ensembl |
|
|
CA6807065 rs148942749 |
551 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs963911271 CA243828804 |
552 | P>L | No |
ClinGen Ensembl |
|
|
CA243828808 rs1028015085 |
553 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA243828812 rs951992790 |
554 | W>S | No |
ClinGen TOPMed |
|
|
CA243828815 rs975330984 |
555 | D>N | No |
ClinGen gnomAD |
|
|
rs1278917849 CA386858246 |
557 | V>M | No |
ClinGen gnomAD |
|
|
rs770844156 CA6807068 |
558 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs372785924 CA6807069 |
559 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1390272703 CA386858273 |
561 | Q>L | No |
ClinGen TOPMed |
|
|
rs762112345 CA6807073 |
565 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs750793843 CA6807075 |
566 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6807077 rs766988157 |
568 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs144027135 CA6807079 |
569 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386858333 rs1226503932 |
570 | L>R | No |
ClinGen TOPMed |
|
|
CA243828843 rs937546646 |
571 | L>V | No |
ClinGen gnomAD |
|
|
CA386858345 rs1565866522 |
572 | H>Q | No |
ClinGen Ensembl |
|
|
rs781302763 CA6807080 |
573 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6807081 rs753005121 |
574 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1364985053 CA386858371 |
576 | P>R | No |
ClinGen gnomAD |
|
|
rs1298445177 CA386858367 |
576 | P>T | No |
ClinGen TOPMed |
|
|
CA6807082 rs756271712 |
577 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA6807083 rs777605175 |
580 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs370076952 CA243828855 |
582 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370076952 CA6807085 |
582 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200560895 CA6807086 |
582 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6807089 rs774828437 |
584 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA386858429 rs1246846498 |
585 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA386858424 rs1370364851 |
585 | K>Q | No |
ClinGen TOPMed |
|
|
rs771827582 CA243828866 |
585 | K>R | No |
ClinGen Ensembl |
|
|
CA386858442 rs1177390855 |
587 | S>L | No |
ClinGen gnomAD |
|
|
CA6807090 rs760423299 |
588 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1239570976 CA386858443 |
588 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1390332195 CA386858447 |
588 | W>S | No |
ClinGen TOPMed |
|
|
rs568493483 CA6807091 |
589 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
No associated diseases with Q8NHP8
No regional properties for Q8NHP8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8NHP8 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| lysosomal lumen | The volume enclosed within the lysosomal membrane. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| phospholipase activity | Catalysis of the hydrolysis of a glycerophospholipid. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| phospholipid catabolic process | The chemical reactions and pathways resulting in the breakdown of phospholipids, any lipid containing phosphoric acid as a mono- or diester. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVGQMYCYPG | SHLARALTRA | LALALVLALL | VGPFLSGLAG | AIPAPGGRWA | RDGQVPPASR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SRSVLLDVSA | GQLLMVDGRH | PDAVAWANLT | NAIRETGWAF | LELGTSGQYN | DSLQAYAAGV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VEAAVSEELI | YMHWMNTVVN | YCGPFEYEVG | YCERLKSFLE | ANLEWMQEEM | ESNPDSPYWH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QVRLTLLQLK | GLEDSYEGRV | SFPAGKFTIK | PLGFLLLQLS | GDLEDLELAL | NKTKIKPSLG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SGSCSALIKL | LPGQSDLLVA | HNTWNNYQHM | LRVIKKYWLQ | FREGPWGDYP | LVPGNKLVFS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SYPGTIFSCD | DFYILGSGLV | TLETTIGNKN | PALWKYVRPR | GCVLEWVRNI | VANRLASDGA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TWADIFKRFN | SGTYNNQWMI | VDYKAFIPGG | PSPGSRVLTI | LEQIPGMVVV | ADKTSELYQK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TYWASYNIPS | FETVFNASGL | QALVAQYGDW | FSYDGSPRAQ | IFRRNQSLVQ | DMDSMVRLMR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YNDFLHDPLS | LCKACNPQPN | GENAISARSD | LNPANGSYPF | QALRQRSHGG | IDVKVTSMSL |
| 550 | 560 | 570 | 580 | ||
| ARILSLLAAS | GPTWDQVPPF | QWSTSPFSGL | LHMGQPDLWK | FAPVKVSWD |