P32019
PR
Gene name |
INPP5B (OCRL2) |
Protein name |
Type II inositol 1,4,5-trisphosphate 5-phosphatase |
Names |
75 kDa inositol polyphosphate-5-phosphatase, Phosphoinositide 5-phosphatase, 5PTase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3633 |
EC number |
3.1.3.36: Phosphoric monoester hydrolases |
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
834 variants for P32019
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA776503 rs762443311 |
2 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA776502 rs772981495 |
3 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1444051565 CA339459475 |
4 | S>C | No |
ClinGen TOPMed |
|
|
rs370227218 CA20828290 |
7 | I>T | No |
ClinGen ESP TOPMed |
|
|
CA776499 rs748568127 |
8 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA776498 rs777250996 |
10 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339459410 rs376153586 |
11 | L>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA776496 rs376153586 |
11 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1032106503 CA20828260 |
12 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1233827956 CA339459402 |
12 | A>V | No |
ClinGen TOPMed |
|
|
CA339459400 rs1385109923 |
13 | E>K | No |
ClinGen gnomAD |
|
|
rs758512064 CA776494 |
14 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1570437890 CA339459384 |
15 | E>G | No |
ClinGen Ensembl |
|
|
CA339459388 rs1426459830 |
15 | E>Q | No |
ClinGen gnomAD |
|
|
CA776491 rs755842605 |
17 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA776492 rs746075665 |
17 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA776489 rs375649873 |
18 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA20828219 rs375649873 |
18 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1395286033 CA339459340 |
20 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA339459334 rs1178173139 |
21 | V>G | No |
ClinGen gnomAD |
|
|
CA776463 rs373752147 |
22 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339459330 rs373752147 |
22 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369283659 CA776461 |
23 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764679797 CA776460 |
24 | V>M | No |
ClinGen ExAC |
|
|
CA776459 rs761503281 |
26 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20827958 rs972606121 |
27 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 27 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA776458 rs544300474 |
28 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs76427211 CA20827944 |
29 | D>A | No |
ClinGen Ensembl |
|
| TCGA novel | 29 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs182465254 CA776455 |
31 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339459277 rs772675893 |
31 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA776454 rs772675893 |
31 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs182465254 CA776456 |
31 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA776453 rs759982668 |
33 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA776452 rs774431618 |
34 | R>C | Variant assessed as Somatic; 9.282e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771979125 CA20827923 |
34 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA776451 rs771001361 |
38 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA776449 rs190204689 |
39 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA776448 rs746857492 |
40 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA776446 rs779740278 |
40 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA776447 rs746857492 |
40 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20827917 rs986870663 |
41 | Y>C | No |
ClinGen TOPMed |
|
|
CA776445 rs200310861 |
42 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs185569565 CA776444 |
42 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs185569565 CA339459193 |
42 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA776442 rs756896252 |
43 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA776440 rs56993041 |
46 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA776439 VAR_061270 rs56993041 |
46 | G>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs760020321 CA776436 |
47 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA339459138 rs1386264755 |
47 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA776435 rs774785526 |
49 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs375324242 CA339459090 |
50 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA776433 rs763067577 |
51 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs763067577 CA339459080 |
51 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs773387490 CA776432 |
51 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 52 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1436624857 CA339474885 |
55 | Y>C | No |
ClinGen gnomAD |
|
|
rs375496963 CA776411 |
56 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339474873 rs375496963 |
56 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774399659 CA776408 |
58 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA776409 rs745700542 |
58 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs547506565 CA776407 |
61 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs552374861 CA776406 |
61 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1320200017 CA339474815 |
62 | I>T | No |
ClinGen TOPMed |
|
|
rs1455812254 CA339474821 |
62 | I>V | No |
ClinGen TOPMed |
|
|
rs777352122 CA776405 |
63 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA776403 rs747821938 |
64 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339474791 COSM3934705 rs1570428795 |
65 | D>G | oesophagus [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA776400 rs751876841 |
66 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766748451 CA776399 |
68 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs376994024 CA20843706 |
68 | S>P | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 69 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1310043280 CA339474733 |
71 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1310043280 CA339474736 |
71 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA776398 rs376054256 |
72 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA776395 rs761860470 |
74 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA776396 rs761860470 |
74 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA776394 rs200033881 COSM187156 |
76 | S>L | upper_aerodigestive_tract large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA776391 rs541762818 COSM426224 |
77 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA776392 rs200755593 |
77 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs770853734 CA776390 |
79 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs749232995 CA776389 |
80 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1470306409 CA339474640 |
81 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA776387 rs769323470 |
82 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1200960438 CA339474632 |
82 | E>V | No |
ClinGen TOPMed |
|
|
rs780783066 CA776386 |
83 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA339474624 rs1157110154 |
83 | E>K | No |
ClinGen gnomAD |
|
|
rs780783066 CA776385 |
83 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs369304488 CA20843659 |
84 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA776358 rs746273464 |
85 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA776357 rs779366151 |
86 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339474557 rs779366151 |
86 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339474562 rs1385773089 |
86 | P>T | No |
ClinGen gnomAD |
|
|
CA339474552 rs1456321138 |
87 | D>H | No |
ClinGen gnomAD |
|
|
rs201643145 CA20843585 |
88 | G>S | No |
ClinGen Ensembl |
|
|
CA339474496 rs1387891170 |
92 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA339474499 rs1387891170 |
92 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA776354 rs201533855 |
92 | I>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339474488 rs1376288546 |
93 | L>F | No |
ClinGen gnomAD |
|
|
rs956526260 CA20843561 |
94 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 94 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs923902828 CA20841939 |
96 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs200111067 CA776328 |
99 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200111067 CA776327 |
99 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339473778 rs1339285117 |
100 | Q>P | No |
ClinGen TOPMed |
|
|
CA776326 rs777627979 COSM1342435 |
101 | L>P | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA776325 rs774931776 |
103 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20841916 rs919268088 |
104 | A>G | No |
ClinGen TOPMed |
|
|
CA776324 rs767030227 |
105 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1300751281 CA339473721 |
106 | L>I | No |
ClinGen gnomAD |
|
|
CA339473697 rs1429401403 |
108 | L>F | No |
ClinGen gnomAD |
|
|
CA776323 rs759045874 |
108 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 109 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771175717 CA776321 |
109 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339473663 rs1181471998 |
111 | Q>L | No |
ClinGen gnomAD |
|
|
rs1438781651 CA339473659 |
112 | L>M | No |
ClinGen gnomAD |
|
|
rs560591705 CA776320 |
113 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA339473630 rs1198958978 |
115 | G>S | No |
ClinGen gnomAD |
|
|
rs376311253 CA339473533 CA20841862 |
123 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs992657271 CA20841858 |
124 | E>K | No |
ClinGen TOPMed |
|
|
CA776318 rs770371561 |
126 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA776317 rs748674267 |
127 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1326966872 CA339473504 |
127 | R>K | No |
ClinGen gnomAD |
|
|
CA339473499 rs371293611 |
127 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA776315 rs755171918 |
129 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1478344732 CA339473483 |
129 | C>S | No |
ClinGen TOPMed |
|
|
CA339472290 rs762402681 |
132 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs968708334 CA20836324 |
135 | A>E | No |
ClinGen TOPMed |
|
|
CA776299 rs777338724 |
136 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1386049944 CA339472265 |
137 | R>G | No |
ClinGen gnomAD |
|
|
rs540209928 CA776298 |
137 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA776296 rs780032326 |
139 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1241583380 CA339472251 |
139 | P>S | No |
ClinGen gnomAD |
|
|
CA776293 rs777480295 |
140 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 141 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA776292 rs755971870 |
141 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs140327568 CA776290 |
142 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs140327568 CA776289 |
142 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA339472227 rs1338419976 |
143 | W>* | No |
ClinGen gnomAD |
|
|
rs751030677 CA776288 |
143 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339472230 COSM250989 rs1351863715 |
143 | W>R | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA339472219 rs1432343924 |
144 | L>P | No |
ClinGen gnomAD |
|
|
rs1328659074 CA339472211 |
146 | R>W | No |
ClinGen gnomAD |
|
|
CA20836248 rs375610914 |
147 | Y>* | No |
ClinGen Ensembl |
|
|
CA339472206 rs1301871934 |
147 | Y>H | No |
ClinGen gnomAD |
|
|
CA20836235 rs371030679 |
148 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339472199 rs1557717041 |
148 | R>K | No |
ClinGen Ensembl |
|
|
CA339472195 rs1249454558 |
148 | R>S | No |
ClinGen TOPMed |
|
|
CA339472189 rs1196367260 |
149 | C>* | No |
ClinGen TOPMed |
|
|
CA776286 rs762595648 |
149 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339472186 rs1236668263 |
150 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs546155072 CA776285 |
151 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1165929532 CA339472176 |
151 | E>V | No |
ClinGen gnomAD |
|
|
CA20836219 rs995045496 |
152 | L>V | No |
ClinGen gnomAD |
|
|
rs765680489 CA339472169 COSM321018 |
153 | E>* | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA339472167 rs1266599714 |
153 | E>G | No |
ClinGen gnomAD |
|
|
rs765680489 CA776284 |
153 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20836202 rs376605048 |
156 | M>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA339472147 rs1167308841 |
156 | M>T | No |
ClinGen TOPMed |
|
|
CA339472150 rs376605048 |
156 | M>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1557716884 CA339472140 |
157 | P>S | No |
ClinGen Ensembl |
|
|
rs373296700 CA776281 |
158 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1002744888 CA20836180 |
159 | P>L | No |
ClinGen TOPMed |
|
|
rs761112571 COSM1296385 CA776279 |
160 | R>C | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs761112571 CA339472125 |
160 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA776278 rs775582763 |
160 | R>H | No |
ClinGen ExAC |
|
|
CA776275 rs769545403 |
161 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA776276 rs370354581 |
161 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA776277 rs370354581 |
161 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA776274 rs769545403 |
161 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs780986028 CA776272 |
162 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs747898014 CA776273 |
162 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339472119 rs1215774714 |
162 | C>S | No |
ClinGen gnomAD |
|
|
rs780986028 CA20836141 |
162 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1346771060 CA339472108 |
163 | N>K | No |
ClinGen gnomAD |
|
|
rs751452047 CA776269 |
164 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA776270 rs754882986 |
164 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA339472104 rs751452047 |
164 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA776265 rs765024764 |
165 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA776267 rs757900151 |
165 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs757900151 CA339472103 |
165 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs765024764 CA776266 |
165 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs541879600 CA776263 |
166 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375665756 CA339472099 |
166 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA776261 rs761177698 |
167 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA776260 rs775928750 |
167 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761177698 CA339472096 |
167 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200195945 CA776258 |
168 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs200195945 CA776257 |
168 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1459748033 CA339472081 |
169 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA339472085 rs1183875077 |
169 | W>* | No |
ClinGen TOPMed |
|
|
rs1459748033 CA339472080 |
169 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA339472070 rs1428221181 |
171 | G>E | No |
ClinGen TOPMed |
|
|
rs1392519940 CA339472023 |
178 | G>D | No |
ClinGen TOPMed |
|
|
CA339472028 rs1169659784 |
178 | G>S | No |
ClinGen TOPMed |
|
|
CA776255 rs749524357 |
180 | Y>D | No |
ClinGen ExAC TOPMed |
|
|
CA339472011 rs749524357 |
180 | Y>H | No |
ClinGen ExAC TOPMed |
|
|
rs776415736 CA776254 |
181 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339472002 rs1324869050 |
181 | P>R | No |
ClinGen gnomAD |
|
|
rs1449757004 CA339471993 |
183 | R>Q | No |
ClinGen TOPMed |
|
|
CA776252 rs746949498 |
183 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA776249 rs553527590 |
184 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA339471982 rs1286685543 |
185 | K>E | No |
ClinGen TOPMed |
|
|
CA339471977 rs1360870678 |
185 | K>N | No |
ClinGen TOPMed |
|
|
CA339471980 rs1280562796 |
185 | K>T | No |
ClinGen gnomAD |
|
|
rs778592688 CA776248 |
186 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339471974 rs1382524370 |
186 | R>W | No |
ClinGen TOPMed |
|
|
CA339471960 rs1368656676 |
188 | G>* | No |
ClinGen TOPMed |
|
|
rs753545272 CA776246 |
188 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764516197 CA776245 |
189 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA776244 rs756496467 |
192 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA776243 rs753215499 |
192 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs760057058 CA776242 |
193 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA776240 rs535046773 |
193 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760057058 CA776241 |
193 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20835992 rs765561620 |
194 | P>S | No |
ClinGen gnomAD |
|
|
CA339471929 rs765561620 |
194 | P>T | No |
ClinGen gnomAD |
|
|
CA776238 rs763153977 |
195 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1557716310 CA339471921 |
195 | Q>R | No |
ClinGen Ensembl |
|
|
CA339471910 rs1258239968 |
197 | A>T | No |
ClinGen gnomAD |
|
|
CA776234 rs61751228 |
198 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA776233 rs746822136 |
199 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339471890 rs1314639138 |
200 | V>A | No |
ClinGen gnomAD |
|
|
rs772090292 CA776231 |
201 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA339471884 rs1381460316 |
202 | F>I | No |
ClinGen gnomAD |
|
|
rs1453116695 CA339471879 |
202 | F>Y | No |
ClinGen TOPMed |
|
|
CA339471857 rs1557716208 |
205 | G>A | No |
ClinGen Ensembl |
|
|
rs1287239063 CA339471861 |
205 | G>R | No |
ClinGen gnomAD |
|
|
rs201781776 CA776230 |
206 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs192297843 CA776229 |
207 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339471846 rs1345783568 |
207 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA776228 rs756896135 |
208 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs777342238 CA776226 |
209 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777342238 CA339471835 |
209 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA776225 rs755820531 |
210 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 210 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339471828 rs755820531 |
210 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259021922 CA339471825 |
210 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA339471798 rs1243215170 |
214 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1219165643 CA339471794 |
215 | M>K | No |
ClinGen gnomAD |
|
|
CA776223 rs767937346 |
217 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA339471778 rs1291251202 |
217 | R>P | No |
ClinGen gnomAD |
|
|
CA339471776 rs1439910950 |
218 | A>T | No |
ClinGen TOPMed |
|
|
rs752122661 CA776221 |
222 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 222 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339471743 rs1305021644 |
223 | F>I | No |
ClinGen TOPMed |
|
|
rs1316528265 CA339471737 |
224 | V>I | No |
ClinGen TOPMed |
|
|
CA776218 rs763065833 |
225 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339471728 rs1402823814 |
225 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1570365861 CA339471729 |
225 | W>G | No |
ClinGen Ensembl |
|
|
CA776216 rs765340350 |
227 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406691240 CA339471697 |
230 | R>Q | No |
ClinGen TOPMed |
|
|
CA20835871 rs775093926 |
231 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs775093926 CA776214 |
231 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA776212 rs199551269 CA776211 |
232 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339471688 rs199551269 |
232 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339471676 rs1268585301 |
234 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA339471677 rs1268585301 |
234 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA776209 rs201779932 |
234 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA776208 rs777363461 |
235 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs770585809 CA776207 |
236 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA776203 rs752036617 |
237 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA776205 rs781528897 |
237 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs747840541 CA776206 |
237 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1570365420 CA339471651 |
238 | L>H | No |
ClinGen Ensembl |
|
|
CA776202 rs200805037 |
240 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339471642 rs1221585029 |
240 | E>K | No |
ClinGen gnomAD |
|
|
rs868690072 CA20835808 |
241 | A>S | No |
ClinGen Ensembl |
|
|
rs1332986886 CA339471624 |
242 | G>D | No |
ClinGen TOPMed |
|
|
CA776200 rs750424764 |
242 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs761878850 CA339471619 |
243 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA776197 rs754155972 |
243 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA776193 rs770941648 |
244 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770941648 CA776194 |
244 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199679630 CA776195 |
244 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199679630 CA20835798 |
244 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339471571 rs1218940355 |
247 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs371536609 COSM4143894 CA776189 |
249 | A>S | thyroid [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1195462277 CA339471555 |
249 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs35267671 CA339471548 |
250 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs35267671 CA776187 |
250 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339471540 rs1201917253 |
251 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA776186 rs768975196 |
251 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768975196 CA339471536 |
251 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339471541 rs1201917253 |
251 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA776184 rs780421709 |
252 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs780421709 CA339471533 |
252 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA776185 rs747331884 |
252 | R>W | No |
ClinGen ExAC |
|
|
rs758776852 CA776183 |
253 | E>* | No |
ClinGen ExAC TOPMed |
|
|
CA339471528 rs758776852 |
253 | E>Q | No |
ClinGen ExAC TOPMed |
|
|
rs1333791102 CA339471517 |
254 | R>C | No |
ClinGen gnomAD |
|
|
CA339471512 rs1306084535 |
254 | R>H | No |
ClinGen gnomAD |
|
|
rs1333791102 CA339471514 |
254 | R>S | No |
ClinGen gnomAD |
|
|
CA339471507 rs1570364701 |
255 | N>H | No |
ClinGen Ensembl |
|
|
rs947615759 CA20835713 |
255 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA339471478 rs1334102730 |
257 | A>V | No |
ClinGen gnomAD |
|
|
rs1006207213 CA20815957 |
260 | S>F | No |
ClinGen gnomAD |
|
|
rs201876160 CA20815966 |
260 | S>P | No |
ClinGen Ensembl |
|
|
CA776156 rs773547437 |
261 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773547437 CA20815953 |
261 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218965590 CA339464903 |
261 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs372402778 CA776155 |
263 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1410944703 CA339464844 |
264 | G>A | No |
ClinGen Ensembl |
|
| TCGA novel | 264 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339464821 rs1440249878 |
266 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs765179762 CA776153 |
266 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs201157911 CA776152 |
272 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA776151 rs776064253 |
273 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA776150 rs143331871 |
274 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1328328701 CA339464646 |
275 | D>E | No |
ClinGen gnomAD |
|
|
rs1415021372 CA339464660 |
275 | D>Y | No |
ClinGen gnomAD |
|
|
rs760316529 CA776149 |
277 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA339464560 rs1276141936 |
280 | G>D | No |
ClinGen TOPMed |
|
|
rs775181020 CA776148 |
281 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1238420344 CA339464505 |
282 | D>G | No |
ClinGen gnomAD |
|
|
CA339464468 rs1179898998 |
283 | K>N | No |
ClinGen gnomAD |
|
|
rs772306028 CA776147 |
284 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA339464463 rs1222866396 |
284 | P>S | No |
ClinGen TOPMed |
|
|
CA20815888 COSM1254852 rs1047242711 |
285 | E>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs375327725 CA20815879 |
287 | L>F | No |
ClinGen ESP TOPMed |
|
|
rs557964335 CA20815884 |
287 | L>V | No |
ClinGen Ensembl |
|
|
rs1209999905 CA339464326 |
290 | R>T | No |
ClinGen gnomAD |
|
|
CA339464086 rs1353469649 |
291 | Q>* | No |
ClinGen gnomAD |
|
|
rs925469017 CA20814926 |
292 | N>S | No |
ClinGen Ensembl |
|
|
rs979539741 CA20814925 |
295 | K>E | No |
ClinGen gnomAD |
|
|
rs760232417 CA776129 |
297 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1320474162 CA339463921 |
299 | T>A | No |
ClinGen TOPMed |
|
|
CA339463910 rs1381171077 |
299 | T>I | No |
ClinGen gnomAD |
|
|
CA339463862 rs1287076357 |
302 | V>I | No |
ClinGen gnomAD |
|
|
CA776128 rs752264648 |
303 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA776127 rs541690543 |
303 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs541690543 CA339463832 |
303 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA20814904 rs952509954 |
304 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs372089636 CA776126 |
304 | S>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA776124 rs367873065 |
307 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339463774 rs1185270164 |
307 | I>V | No |
ClinGen gnomAD |
|
|
CA339463753 rs1264343713 |
309 | V>M | No |
ClinGen gnomAD |
|
|
rs376586874 CA776123 |
310 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs879148484 CA20814894 |
311 | D>G | No |
ClinGen Ensembl |
|
|
rs138538972 CA776121 |
311 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA776118 rs768863389 |
313 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747202207 CA776117 |
314 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs778766165 CA776116 |
316 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs757103552 CA776115 CA20814858 |
318 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20814870 rs1001888669 |
318 | M>V | No |
ClinGen Ensembl |
|
|
rs753753656 CA776114 |
320 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 322 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777731980 CA776113 |
323 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339463579 rs756079408 |
324 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA776112 rs756079408 |
324 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA776111 rs368572603 |
324 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA20814805 rs1015164806 |
325 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 326 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1377355915 CA339463548 |
327 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 328 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA776109 rs759219879 |
331 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 331 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1314066470 CA339463490 |
332 | L>Q | No |
ClinGen TOPMed |
|
|
CA20814803 rs1029012618 CA339463465 |
334 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA776107 rs766824500 |
337 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1352072079 CA339463390 |
340 | T>S | No |
ClinGen gnomAD |
|
|
CA776104 rs770373670 |
343 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1249681195 CA339463351 |
343 | Q>R | No |
ClinGen gnomAD |
|
|
CA339463221 rs1199744068 |
347 | F>I | No |
ClinGen Ensembl |
|
|
CA20814181 rs370470342 |
347 | F>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs201051953 CA776080 |
349 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1206313616 CA339463159 |
352 | Y>C | No |
ClinGen TOPMed |
|
|
rs1035314101 CA20814172 |
353 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 356 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 358 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA776078 rs746106372 |
358 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA776076 rs769532489 |
360 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs748094208 CA776075 |
362 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs754973933 CA776073 |
363 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339463021 rs1258319404 |
364 | R>Q | No |
ClinGen TOPMed |
|
|
CA776072 rs746454046 |
364 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339462988 rs1185589803 |
367 | L>Q | No |
ClinGen gnomAD |
|
|
CA339462967 rs1441714679 |
369 | N>D | No |
ClinGen gnomAD |
|
|
COSM3689663 CA20814133 rs757163667 |
369 | N>S | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 371 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339462945 rs1185049357 |
371 | I>V | No |
ClinGen TOPMed |
|
|
rs1201924671 CA339462923 |
372 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1429299332 CA339462929 |
372 | Q>P | No |
ClinGen TOPMed |
|
|
CA339462918 rs1484784985 |
373 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1557651040 CA339462900 |
375 | D>H | No |
ClinGen Ensembl |
|
|
rs1285101773 CA339462869 |
377 | Y>C | No |
ClinGen gnomAD |
|
|
CA339462853 rs1240381798 |
378 | C>F | No |
ClinGen gnomAD |
|
|
CA20813670 rs868443204 |
382 | Q>K | No |
ClinGen Ensembl |
|
|
rs771767407 CA776051 |
383 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA339461546 rs1234572723 |
384 | L>V | No |
ClinGen gnomAD |
|
|
CA339461504 rs745495000 |
385 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1452328369 CA339461379 |
393 | F>C | No |
ClinGen TOPMed |
|
|
rs190711865 CA776049 |
393 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA776048 rs185179250 |
394 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778216492 CA776046 |
395 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 396 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339461344 rs1478696511 |
396 | T>S | No |
ClinGen gnomAD |
|
|
rs1244569222 CA339461312 |
399 | E>G | No |
ClinGen gnomAD |
|
|
CA20813621 rs180931550 |
400 | E>K | No |
ClinGen 1000Genomes |
|
|
rs753273148 CA339461268 |
402 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs753273148 CA776044 |
402 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA339461273 rs1319211941 |
402 | W>S | No |
ClinGen TOPMed |
|
|
rs1297854206 CA339461241 |
404 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs767559797 CA776043 |
405 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1316528067 CA339461174 |
409 | G>D | No |
ClinGen gnomAD |
|
|
CA339461114 rs973643685 |
413 | D>E | No |
ClinGen TOPMed |
|
|
rs963577640 CA20813597 |
414 | A>T | No |
ClinGen Ensembl |
|
|
CA776041 rs751666065 |
415 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1258441065 CA339461085 |
415 | K>N | No |
ClinGen TOPMed |
|
|
CA339461090 rs1342749199 |
415 | K>R | No |
ClinGen gnomAD |
|
|
rs1331957399 CA339461040 |
418 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 418 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA776030 rs769653418 |
422 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA776029 rs769653418 |
422 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200553283 CA776028 |
423 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA20813235 rs893699387 |
423 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA339460912 rs1276928568 |
424 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 427 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA20813213 rs1052275539 |
431 | L>S | No |
ClinGen Ensembl |
|
|
CA776025 rs755495430 |
433 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1257618524 CA339460841 |
435 | Q>R | No |
ClinGen gnomAD |
|
|
CA339460837 rs1376220054 |
436 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1332172539 CA339460823 |
437 | H>Q | No |
ClinGen gnomAD |
|
|
rs763079452 CA776022 |
442 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA20813182 rs999729915 |
442 | S>P | No |
ClinGen Ensembl |
|
| TCGA novel | 445 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339460701 rs1452951651 |
446 | A>P | No |
ClinGen TOPMed |
|
|
CA776020 rs763776051 |
447 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557648668 CA339460572 |
454 | M>I | No |
ClinGen Ensembl |
|
|
CA339460558 rs1557648655 |
455 | G>E | No |
ClinGen Ensembl |
|
|
rs1156436435 CA339460548 |
456 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1156436435 CA339460546 |
456 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA776018 rs775456979 |
457 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA776000 rs752486762 |
462 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA339460318 rs1365635174 |
463 | V>M | No |
ClinGen TOPMed |
|
|
CA775997 rs571007490 |
464 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772615679 CA339460267 CA775993 |
466 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339460233 rs1276002358 |
470 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA20812470 rs1026401340 |
470 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs769375802 CA775992 |
473 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA339460176 rs1360718985 |
474 | I>F | No |
ClinGen gnomAD |
|
|
CA339460157 rs1465611941 |
475 | C>Y | No |
ClinGen TOPMed |
|
|
CA339460147 rs202204967 |
476 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202204967 CA775990 |
476 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA775989 rs202204967 |
476 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200841995 CA775988 |
479 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339460065 rs1191278159 |
482 | A>T | No |
ClinGen TOPMed |
|
|
CA775987 rs780652276 |
485 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA775986 rs758862595 |
493 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264766037 CA339459837 |
495 | Y>C | No |
ClinGen Ensembl |
|
|
CA20812446 rs113136430 |
495 | Y>H | No |
ClinGen Ensembl |
|
| TCGA novel | 496 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 497 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA775985 rs745911581 |
499 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA339459745 rs1570094485 |
500 | S>F | No |
ClinGen Ensembl |
|
|
rs779148739 CA775984 |
501 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs202221695 CA775983 |
501 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202221695 CA339459734 |
501 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA339459730 rs1570094397 |
502 | M>V | No |
ClinGen Ensembl |
|
|
rs754183601 CA775982 |
503 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339459656 rs1321295627 |
506 | Q>H | No |
ClinGen TOPMed |
|
|
CA775981 rs767409289 |
510 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339459586 rs1294260074 |
511 | L>P | No |
ClinGen TOPMed |
|
|
rs1437037829 CA339459591 |
511 | L>V | No |
ClinGen TOPMed |
|
|
rs1408285216 CA339459582 |
512 | P>A | No |
ClinGen TOPMed |
|
|
rs1408285216 CA339459581 |
512 | P>S | No |
ClinGen TOPMed |
|
|
rs764046456 CA20812401 |
513 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA339459556 rs766289270 |
513 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766289270 CA775978 |
513 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA775979 rs764046456 |
513 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs762807261 CA775977 |
514 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA339459522 rs1288092027 |
515 | T>I | No |
ClinGen TOPMed |
|
|
rs749865103 CA775976 |
516 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1321645603 CA339459484 |
517 | S>N | No |
ClinGen TOPMed |
|
|
rs866327671 CA339459465 |
518 | N>K | No |
ClinGen gnomAD |
|
|
rs764793515 CA775975 |
518 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs924685367 CA20812364 |
519 | H>P | No |
ClinGen TOPMed |
|
|
COSM3386146 CA339459459 rs924685367 |
519 | H>R | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA775949 rs775051493 |
522 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1450544106 CA339458773 |
524 | W>R | No |
ClinGen TOPMed |
|
|
CA775946 rs749328829 |
527 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA775947 rs201236404 |
527 | D>G | No |
ClinGen ExAC |
|
|
CA775945 rs778009368 |
528 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA20810249 rs755177686 |
529 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1377229991 CA339458726 |
531 | R>T | No |
ClinGen gnomAD |
|
|
rs1174468922 CA339458715 |
532 | I>M | No |
ClinGen gnomAD |
|
|
rs1557642245 CA339458711 |
533 | E>A | No |
ClinGen Ensembl |
|
|
CA339458705 rs1341370378 |
534 | E>K | No |
ClinGen TOPMed |
|
|
rs1570072562 CA339458689 |
536 | D>G | No |
ClinGen Ensembl |
|
|
rs961236893 CA20810212 |
537 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA775943 rs748383314 |
539 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 540 | V>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779884546 CA775942 |
542 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs201441741 CA775941 |
545 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 547 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 548 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA775940 rs373523453 |
548 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA775938 rs757208244 |
550 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs969335751 CA20810155 |
551 | M>V | No |
ClinGen TOPMed |
|
|
rs753289611 CA775937 |
552 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs755790002 CA775935 |
553 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA775936 rs149782091 |
553 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 553 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA775934 rs752352623 |
554 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs767906609 CA775933 |
555 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1465970889 CA339458551 |
556 | D>G | No |
ClinGen TOPMed |
|
|
CA339458543 rs1403896977 |
557 | Q>H | No |
ClinGen TOPMed |
|
|
rs760022941 CA775932 |
557 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765326925 CA775904 |
562 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs907991560 CA20808747 |
563 | A>T | No |
ClinGen Ensembl |
|
|
CA775901 rs368979685 |
564 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA775902 rs368979685 |
564 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA775900 rs747237998 |
566 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA339458434 rs1295065101 |
566 | T>S | No |
ClinGen TOPMed |
|
|
CA775899 rs375882714 |
567 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA20808737 rs372827762 |
567 | V>I | No |
ClinGen Ensembl |
|
|
CA775897 rs749203715 |
570 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749203715 CA775896 |
570 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339458366 rs1557638333 |
570 | G>S | No |
ClinGen Ensembl |
|
|
rs1206916947 CA339458335 |
572 | T>S | No |
ClinGen TOPMed |
|
|
rs1278410582 CA339458313 |
573 | E>V | No |
ClinGen TOPMed |
|
| TCGA novel | 574 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756111839 CA775893 |
574 | G>D | No |
ClinGen ExAC |
|
|
rs747549758 CA775892 |
576 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA339458275 rs1316414773 |
576 | L>V | No |
ClinGen gnomAD |
|
|
CA339458248 rs1260315043 |
578 | F>L | No |
ClinGen TOPMed |
|
|
CA20808724 rs976654140 |
580 | P>L | No |
ClinGen Ensembl |
|
|
rs754670086 CA775890 |
582 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780754308 CA775891 |
582 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA20808723 rs907265515 |
582 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
CA775889 rs751311651 |
585 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs780542769 CA775888 |
586 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs571641776 CA775886 COSM1667429 |
587 | G>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA339458102 rs1476156460 |
588 | S>C | No |
ClinGen gnomAD |
|
|
CA339458077 rs1197499403 |
590 | D>N | No |
ClinGen gnomAD |
|
|
rs1197499403 CA339458073 |
590 | D>Y | No |
ClinGen gnomAD |
|
|
CA775883 rs762397016 |
591 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs753793706 CA775881 |
594 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 595 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339470464 rs1315585159 |
598 | R>C | No |
ClinGen TOPMed |
|
|
rs1238062745 CA339470462 |
598 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA339470452 rs1376008228 |
600 | P>S | No |
ClinGen gnomAD |
|
|
rs1280087916 CA339470437 |
602 | W>S | No |
ClinGen gnomAD |
|
|
rs764139290 CA775863 |
605 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA775864 rs754429502 |
605 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA775862 rs200596935 |
608 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA20848197 rs909035519 |
608 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA775861 rs368282411 |
610 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339470386 rs1434890043 |
610 | G>R | No |
ClinGen gnomAD |
|
|
CA775860 rs767682411 |
611 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374124248 CA775858 |
614 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1464469450 CA339470338 |
617 | S>N | No |
ClinGen TOPMed |
|
|
rs761631706 CA775856 |
618 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA775855 rs776747694 |
619 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA775854 rs768743879 |
620 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 620 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA775853 rs528453789 |
621 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA775851 rs771558015 |
622 | M>K | No |
ClinGen ExAC gnomAD |
|
|
COSM464565 rs779724529 CA775852 |
622 | M>V | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA339470296 rs1159870487 |
623 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1159870487 CA339470298 |
623 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA775850 rs745602523 |
623 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs757691823 CA339470276 |
626 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757691823 CA775848 |
626 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA775847 rs749767113 |
627 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA339470270 rs965733629 |
627 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA20848140 rs911058041 |
629 | H>Y | No |
ClinGen TOPMed |
|
|
rs1415205826 CA339470237 |
632 | V>I | No |
ClinGen gnomAD |
|
|
rs1356925885 CA339470229 |
633 | S>T | No |
ClinGen gnomAD |
|
|
CA20848135 rs910835338 |
635 | V>A | No |
ClinGen Ensembl |
|
|
rs1418750427 CA339470219 |
635 | V>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 637 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1387280096 CA339470196 |
638 | I>N | No |
ClinGen TOPMed |
|
|
CA775844 rs756640187 |
638 | I>V | No |
ClinGen ExAC gnomAD |
|
| rs768949615 | 639 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755138432 CA339470189 |
639 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs957785036 CA20848125 |
639 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs755138432 CA775841 |
639 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA339470174 rs1214237159 |
640 | V>A | No |
ClinGen gnomAD |
|
|
CA775821 rs753620651 |
641 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA775818 rs575037660 |
643 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA775817 rs377554015 |
645 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs980841017 CA20847289 |
646 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs980841017 CA339469673 |
646 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1442206676 CA339469655 |
647 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1442206676 CA339469659 |
647 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs759049604 CA339469624 |
649 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773760148 CA775814 |
649 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA775815 rs759049604 |
649 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA20847282 rs891129877 |
653 | E>G | No |
ClinGen TOPMed |
|
|
rs1232279765 CA339469512 |
656 | V>I | No |
ClinGen gnomAD |
|
|
CA775812 rs555111201 |
657 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs371113985 CA775811 |
657 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1557630416 CA339469482 |
658 | S>Y | No |
ClinGen Ensembl |
|
|
rs748620190 CA775809 |
662 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1050159743 CA20847269 |
666 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA775807 rs769064205 |
667 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339469347 rs769064205 |
667 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA775805 rs780001724 |
669 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs758689721 CA775804 |
670 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA775802 rs777690297 |
672 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA339469273 rs1214035250 |
672 | L>V | No |
ClinGen TOPMed |
|
|
rs1235897919 CA339469233 |
675 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1235897919 CA339469234 |
675 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA775801 rs756014498 |
675 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA775799 rs767442521 |
676 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA775800 rs767442521 |
676 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs559659840 CA20846866 |
678 | C>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA775776 rs559659840 |
678 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs933645295 CA20846865 |
680 | Q>H | No |
ClinGen Ensembl |
|
|
rs761470534 CA775775 |
685 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA775773 rs768968308 |
688 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs761212398 CA775772 |
689 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1351973731 CA339468858 |
692 | F>L | No |
ClinGen gnomAD |
|
|
CA775771 rs201690475 |
693 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA339468823 rs1423113833 |
695 | H>R | No |
ClinGen TOPMed |
|
|
CA775770 rs373428823 |
695 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339468788 rs1334579080 |
700 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA339468787 rs1334579080 |
700 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA775767 rs771217399 |
702 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339468765 rs1416841657 |
702 | H>Y | No |
ClinGen gnomAD |
|
|
rs1317681560 CA339468698 |
707 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs781013997 CA775765 |
709 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1447972146 CA339468661 |
711 | E>Q | No |
ClinGen TOPMed |
|
|
CA339468656 rs1218824328 |
711 | E>V | No |
ClinGen gnomAD |
|
|
rs754781984 CA775764 |
715 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA339468608 rs1377632480 |
716 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 718 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1323776154 CA339468574 |
719 | L>M | No |
ClinGen gnomAD |
|
|
CA20846859 rs866332809 |
721 | A>V | No |
ClinGen Ensembl |
|
|
rs779050936 CA775763 |
722 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA775762 rs779928845 |
723 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs546441570 CA775761 |
724 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs200640321 CA775760 |
726 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375185384 CA775759 |
728 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339468138 rs1216972173 COSM397112 |
732 | S>C | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs973411972 CA20846593 |
734 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1018060732 CA20846586 |
740 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1233694450 CA339468013 |
740 | L>P | No |
ClinGen gnomAD |
|
|
CA20846581 rs909828631 |
742 | V>I | Variant assessed as Somatic; 4.639e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA339467989 rs909828631 |
742 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1378622917 CA339467977 |
743 | N>H | No |
ClinGen TOPMed |
|
|
CA20846575 rs998620800 |
745 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
VAR_028002 CA775734 rs11488569 |
745 | M>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA20846573 rs907055871 |
749 | K>E | No |
ClinGen TOPMed |
|
|
rs760111238 CA775733 |
749 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA339467850 rs1373244193 |
751 | N>I | No |
ClinGen gnomAD |
|
|
rs766935447 CA775731 |
752 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA775730 rs762905083 |
753 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1013250274 CA20846558 |
754 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 756 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA775729 rs200372916 |
757 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1261900494 CA339467755 |
757 | I>T | No |
ClinGen TOPMed |
|
|
CA775727 rs769852215 |
760 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA775726 rs376320485 |
762 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA775725 rs376320485 |
762 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA20846540 rs997950782 |
764 | H>P | No |
ClinGen Ensembl |
|
|
CA775723 rs143656138 |
764 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA775722 rs778773049 |
766 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA20846529 rs963822269 |
766 | D>V | No |
ClinGen Ensembl |
|
|
CA339467631 rs1221990118 |
769 | K>R | No |
ClinGen gnomAD |
|
|
rs777347618 CA775720 |
772 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs777347618 CA775719 |
772 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs752460516 CA775717 |
775 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA339467508 rs1353384369 |
779 | Y>* | No |
ClinGen gnomAD |
|
|
rs781659764 CA775716 |
781 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752006771 CA775714 |
785 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA775713 rs766732597 |
787 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 787 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371293985 CA775711 |
788 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 789 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368417324 CA775710 |
789 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA20846489 rs368417324 |
789 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1456626081 CA339467398 |
790 | T>S | No |
ClinGen TOPMed |
|
|
CA775709 rs200574758 |
791 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA775706 rs759286242 |
794 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA775707 rs771766555 |
794 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329653519 CA339467338 |
795 | R>S | No |
ClinGen TOPMed |
|
|
rs763274209 CA775705 |
798 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA775704 rs770713913 |
799 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs749302964 CA775703 |
802 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs769382476 CA775701 |
803 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA20846457 rs765247644 |
806 | I>V | No |
ClinGen TOPMed |
|
|
rs1308581317 CA339467215 |
807 | S>T | No |
ClinGen TOPMed |
|
|
CA339466713 rs1304190459 |
811 | L>P | No |
ClinGen TOPMed |
|
|
rs746241504 CA775675 |
814 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1420241494 CA339466692 |
814 | V>I | No |
ClinGen gnomAD |
|
|
CA339466691 rs1420241494 |
814 | V>L | No |
ClinGen gnomAD |
|
|
CA339466686 rs1252317927 |
815 | W>* | No |
ClinGen gnomAD |
|
|
CA20845090 rs757765937 |
815 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA775674 CA775673 rs757765937 |
815 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339466681 rs1214303340 |
816 | T>A | No |
ClinGen gnomAD |
|
|
rs866467843 CA20845084 |
817 | G>E | No |
ClinGen Ensembl |
|
|
CA339466645 rs1569964558 |
821 | S>N | No |
ClinGen Ensembl |
|
|
rs1307732215 CA339466604 |
826 | P>L | No |
ClinGen gnomAD |
|
|
CA339466600 rs1358368034 |
827 | M>T | No |
ClinGen TOPMed |
|
|
rs756321392 CA775669 |
827 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 828 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA775668 rs753001007 |
828 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs961522649 CA20845044 |
829 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA339466582 rs1293422826 |
830 | P>T | No |
ClinGen TOPMed |
|
|
rs1370163424 CA339466558 |
833 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA775665 rs772891704 |
836 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1016075837 CA20845034 |
836 | M>T | No |
ClinGen TOPMed |
|
|
CA775664 rs765210866 |
837 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA339466520 rs1208755937 |
838 | D>G | No |
ClinGen Ensembl |
|
|
CA339466501 rs1371433291 |
841 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
CA339466502 rs1371433291 |
841 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs866564043 CA20845018 |
842 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA339466493 rs761903907 |
842 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761903907 CA775663 COSM3419197 |
842 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA775662 rs372406929 |
844 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746619799 CA339466478 |
845 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs746619799 CA775660 |
845 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA20844997 rs891102753 |
846 | Q>* | No |
ClinGen Ensembl |
|
|
CA20843789 rs929261767 |
849 | D>G | No |
ClinGen TOPMed |
|
|
CA775645 rs750222005 |
853 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA339466408 rs1185327026 |
853 | Q>P | No |
ClinGen gnomAD |
|
|
CA339466396 TCGA novel rs1569950336 |
855 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA775644 rs765194271 |
855 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1266621691 CA339466371 |
859 | E>A | No |
ClinGen TOPMed |
|
|
CA775643 rs180932774 |
860 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA775642 rs753877714 |
862 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA339466348 rs753877714 |
862 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs868358732 CA20843756 |
868 | D>Y | No |
ClinGen Ensembl |
|
|
CA339466276 rs1239002824 |
872 | I>T | No |
ClinGen gnomAD |
|
|
rs1290666038 CA339466267 |
873 | D>E | No |
ClinGen gnomAD |
|
|
rs760192436 CA775640 |
873 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339466232 rs1164629396 |
877 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 878 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339466225 rs1460205927 |
878 | S>N | No |
ClinGen gnomAD |
|
|
rs763259527 CA775607 |
880 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA339466209 rs763259527 |
880 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA775608 rs369532196 |
880 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA339466202 rs1450598768 |
881 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs748673634 CA775604 |
884 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA20843109 rs943333016 |
884 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA339466164 rs1310548515 |
888 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 888 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339466160 rs1301308593 |
889 | F>L | No |
ClinGen gnomAD |
|
|
rs781303898 CA775602 |
891 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 894 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA775600 rs535289020 |
895 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA775599 rs780383560 |
897 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA775598 rs758700003 |
898 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754222392 CA775597 |
900 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA775596 rs749033817 |
901 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331455785 CA339466018 |
901 | S>T | No |
ClinGen gnomAD |
|
|
rs755205085 CA20843015 |
902 | T>N | No |
ClinGen Ensembl |
|
|
rs777487082 CA775595 |
902 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1395370030 CA339466004 |
903 | Y>H | No |
ClinGen gnomAD |
|
|
CA339465988 rs1168617872 |
904 | H>R | No |
ClinGen gnomAD |
|
|
CA775594 rs756072632 |
905 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA339465976 rs1431084382 |
905 | N>S | No |
ClinGen gnomAD |
|
|
CA339465979 rs1197007726 |
905 | N>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 908 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1477995585 CA339465948 |
908 | E>K | No |
ClinGen gnomAD |
|
|
rs1247588079 CA339465933 |
909 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs199676247 CA775592 |
910 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339465919 rs199676247 |
910 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1436241981 CA339465903 |
912 | N>I | No |
ClinGen gnomAD |
|
|
CA339465893 rs1569942537 |
913 | Y>H | No |
ClinGen Ensembl |
|
|
CA339465860 rs1423736544 |
916 | S>N | No |
ClinGen TOPMed |
|
|
CA339465858 rs1423736544 |
916 | S>T | No |
ClinGen TOPMed |
|
|
rs751058893 CA775572 |
919 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751058893 CA339465768 |
919 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765942284 CA775571 |
922 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA20842106 rs3762425 |
922 | T>S | No |
ClinGen Ensembl |
|
|
CA339465741 rs1286165037 |
923 | L>F | No |
ClinGen gnomAD |
|
|
rs764966364 CA775568 |
924 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA20842063 rs755081175 |
925 | I>V | No |
ClinGen TOPMed |
|
|
rs919339532 CA20842050 |
931 | F>S | No |
ClinGen TOPMed |
|
|
CA20842046 CA339465667 rs148529004 |
932 | H>Q | No |
ClinGen 1000Genomes TOPMed |
|
|
CA339465671 rs1388286415 |
932 | H>R | No |
ClinGen gnomAD |
|
|
CA339465674 rs1399521521 |
932 | H>Y | No |
ClinGen gnomAD |
|
|
rs200514181 CA775567 |
933 | Y>H | No |
ClinGen 1000Genomes ExAC |
|
|
CA339465635 rs1160377940 |
935 | M>T | No |
ClinGen gnomAD |
|
|
rs181387075 CA775566 |
936 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA775565 rs181387075 |
936 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs189930610 CA775563 |
939 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772317418 CA775562 |
939 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239353829 CA339465587 |
940 | E>K | No |
ClinGen gnomAD |
|
|
rs1213544885 CA339465566 |
942 | L>V | No |
ClinGen gnomAD |
|
|
rs1464397907 CA339465538 |
944 | N>K | No |
ClinGen gnomAD |
|
|
rs985183714 CA20841995 |
944 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1210378977 CA339465532 |
945 | S>* | No |
ClinGen gnomAD |
|
|
CA775561 rs746065090 |
945 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA339465535 rs746065090 |
945 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1311528867 CA339465523 |
946 | A>E | No |
ClinGen gnomAD |
|
|
rs1332476741 CA339465526 |
946 | A>T | No |
ClinGen gnomAD |
|
|
rs953564237 CA20841988 |
947 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs563265490 CA775560 |
948 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771211141 CA339465494 |
949 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365145370 CA339465489 |
949 | H>L | No |
ClinGen gnomAD |
|
|
CA775558 rs771211141 |
949 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486646845 CA339465486 |
949 | H>Q | No |
ClinGen TOPMed |
|
|
CA339465493 rs771211141 |
949 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs41311191 CA775557 |
951 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA775556 rs781050898 |
952 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746990730 CA775554 |
953 | N>K | No |
ClinGen ExAC |
|
|
rs768578926 CA775555 |
953 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1569932882 CA339465431 |
954 | I>T | No |
ClinGen Ensembl |
|
|
rs1415981678 CA339465437 |
954 | I>V | No |
ClinGen gnomAD |
|
|
CA339465419 rs1297738147 |
956 | A>T | No |
ClinGen gnomAD |
|
|
rs755928040 CA20840537 |
958 | I>V | No |
ClinGen Ensembl |
|
|
CA339464395 rs1452513386 |
961 | S>I | No |
ClinGen gnomAD |
|
|
rs375829441 COSM3419196 CA775534 |
965 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
COSM2167642 rs746831813 CA775533 |
965 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA775532 rs779926757 |
968 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA775531 rs373776316 |
970 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs571764941 CA20840516 |
971 | Q>E | No |
ClinGen gnomAD |
|
|
CA775529 rs191075425 |
974 | D>A | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs191075425 CA339464140 |
974 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs756853976 CA339464127 |
975 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA775528 rs756853976 |
975 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs753565968 CA775527 |
976 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 977 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA20840506 rs980916507 |
978 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA775526 rs529874480 |
980 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA775525 rs561088456 |
980 | K>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA775524 rs561088456 |
980 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA775522 rs1361113744 |
981 | A>S | No |
ClinGen TOPMed |
|
|
CA339464030 rs1361113744 |
981 | A>T | No |
ClinGen TOPMed |
|
|
rs768065842 CA775521 |
982 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1569917060 CA339463932 |
986 | H>P | No |
ClinGen Ensembl |
|
|
CA20840453 rs370097490 |
988 | F>L | No |
ClinGen ESP TOPMed |
|
|
CA339463888 rs1569916994 |
988 | F>S | No |
ClinGen Ensembl |
|
|
CA775518 rs766524381 |
990 | C>* | No |
ClinGen ExAC |
|
|
CA339463861 rs1176770611 |
990 | C>R | No |
ClinGen gnomAD |
|
|
rs1341427298 CA339463831 CA339463828 |
991 | N>K | No |
ClinGen gnomAD |
|
|
CA775516 rs980 |
993 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs980 CA20840442 |
993 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1380612711 CA339463794 |
994 | L>R | No |
ClinGen gnomAD |
No associated diseases with P32019
4 regional properties for P32019
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Homeobox domain | 204 - 268 | IPR001356 |
| conserved_site | Homeobox, conserved site | 239 - 262 | IPR017970 |
| domain | Homeobox domain, metazoa | 228 - 239 | IPR020479-1 |
| domain | Homeobox domain, metazoa | 243 - 262 | IPR020479-2 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.3.36 | Phosphoric monoester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| early endosome membrane | The lipid bilayer surrounding an early endosome. |
| endoplasmic reticulum-Golgi intermediate compartment | A complex system of membrane-bounded compartments located between endoplasmic reticulum (ER) and the Golgi complex, with a distinctive membrane protein composition; involved in ER-to-Golgi and Golgi-to-ER transport. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| phagocytic vesicle membrane | The lipid bilayer surrounding a phagocytic vesicle. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity | Catalysis of the reaction: 1D-myo-inositol 1,3,4,5-tetrakisphosphate + H2O = 1D-myo-inositol 1,3,4-trisphosphate + phosphate. |
| inositol-1,4,5-trisphosphate 5-phosphatase activity | Catalysis of the reaction: 1D-myo-inositol 1,4,5-trisphosphate + H2O = 1D-myo-inositol 1,4-bisphosphate + phosphate. |
| metal ion binding | Binding to a metal ion. |
| phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| flagellated sperm motility | The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm. |
| in utero embryonic development | The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. |
| inositol phosphate dephosphorylation | The process of removing a phosphate group from any mono- or polyphosphorylated inositol. |
| inositol phosphate metabolic process | The chemical reactions and pathways involving inositol phosphate, 1,2,3,4,5,6-cyclohexanehexol, with one or more phosphate groups attached. |
| phosphatidylinositol dephosphorylation | The process of removing one or more phosphate groups from a phosphatidylinositol. |
| regulation of protein processing | Any process that modulates the frequency, rate or extent of protein processing, a protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9VDS5 | RhoGAP92B | Rho GTPase-activating protein 92B | Drosophila melanogaster (Fruit fly) | PR |
| Q9NRR6 | INPP5E | Phosphatidylinositol polyphosphate 5-phosphatase type IV | Homo sapiens (Human) | PR |
| Q92835 | INPP5D | Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 | Homo sapiens (Human) | PR |
| Q9Y3L3 | SH3BP1 | SH3 domain-binding protein 1 | Homo sapiens (Human) | PR |
| O15056 | SYNJ2 | Synaptojanin-2 | Homo sapiens (Human) | PR |
| Q9ES52 | Inpp5d | Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 | Mus musculus (Mouse) | PR |
| Q8K2H3 | Fam13b | Protein FAM13B | Mus musculus (Mouse) | PR |
| P55194 | Sh3bp1 | SH3 domain-binding protein 1 | Mus musculus (Mouse) | PR |
| Q8BYW1 | Arhgap25 | Rho GTPase-activating protein 25 | Mus musculus (Mouse) | PR |
| Q6NVF0 | Ocrl | Inositol polyphosphate 5-phosphatase OCRL | Mus musculus (Mouse) | PR |
| Q8K337 | Inpp5b | Type II inositol 1,4,5-trisphosphate 5-phosphatase | Mus musculus (Mouse) | PR |
| P97573 | Inpp5d | Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDQSVAIQET | LAEGEYCVIA | VQGVLCEGDS | RQSRLLGLVR | YRLEHGGQEH | ALFLYTHRRM |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AITGDDVSLD | QIVPVSRDFT | LEEVSPDGEL | YILGSDVTVQ | LDTAELSLVF | QLPFGSQTRM |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FLHEVARACP | GFDSATRDPE | FLWLSRYRCA | ELELEMPTPR | GCNSALVTWP | GYATIGGGRY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PSRKKRWGLE | EARPQGAGSV | LFWGGAMEKT | GFRLMERAHG | GGFVWGRSAR | DGRRDEELEE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AGREMSAAAG | SRERNTAGGS | NFDGLRPNGK | GVPMDQSSRG | QDKPESLQPR | QNKSKSEITD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MVRSSTITVS | DKAHILSMQK | FGLRDTIVKS | HLLQKEEDYT | YIQNFRFFAG | TYNVNGQSPK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ECLRLWLSNG | IQAPDVYCVG | FQELDLSKEA | FFFHDTPKEE | EWFKAVSEGL | HPDAKYAKVK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LIRLVGIMLL | LYVKQEHAAY | ISEVEAETVG | TGIMGRMGNK | GGVAIRFQFH | NTSICVVNSH |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LAAHIEEYER | RNQDYKDICS | RMQFCQPDPS | LPPLTISNHD | VILWLGDLNY | RIEELDVEKV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KKLIEEKDFQ | MLYAYDQLKI | QVAAKTVFEG | FTEGELTFQP | TYKYDTGSDD | WDTSEKCRAP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| AWCDRILWKG | KNITQLSYQS | HMALKTSDHK | PVSSVFDIGV | RVVNDELYRK | TLEEIVRSLD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KMENANIPSV | SLSKREFCFQ | NVKYMQLKVE | SFTIHNGQVP | CHFEFINKPD | EESYCKQWLN |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ANPSRGFLLP | DSDVEIDLEL | FVNKMTATKL | NSGEDKIEDI | LVLHLDRGKD | YFLSVSGNYL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PSCFGSPIHT | LCYMREPILD | LPLETISELT | LMPVWTGDDG | SQLDSPMEIP | KELWMMVDYL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| YRNAVQQEDL | FQQPGLRSEF | EHIRDCLDTG | MIDNLSASNH | SVAEALLLFL | ESLPEPVICY |
| 910 | 920 | 930 | 940 | 950 | 960 |
| STYHNCLECS | GNYTASKQVI | STLPIFHKNV | FHYLMAFLRE | LLKNSAKNHL | DENILASIFG |
| 970 | 980 | 990 | |||
| SLLLRNPAGH | QKLDMTEKKK | AQEFIHQFLC | NPL |