O14967
PR
Gene name |
CLGN |
Protein name |
Calmegin |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1047 |
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 O14967
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O14967-F1 | Predicted | AlphaFoldDB |
462 variants for O14967
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1560746423 CA358282432 |
4 | Q>P | No |
ClinGen Ensembl |
|
|
CA3086154 rs749908305 |
5 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749908305 CA3086155 |
5 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749908305 CA358282414 |
5 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3086153 rs764796962 |
7 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3086151 rs371002888 |
9 | C>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374427143 CA3086152 |
9 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358282340 rs1385328399 |
11 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 12 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3086150 rs760573138 |
13 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3086149 rs760573138 |
13 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1430875002 CA358282317 |
14 | F>L | No |
ClinGen gnomAD |
|
|
rs1578604330 CA358282276 |
17 | I>V | No |
ClinGen Ensembl |
|
|
rs1469160090 CA358282249 |
18 | N>K | No |
ClinGen gnomAD |
|
|
CA3086147 rs771069192 |
18 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA358282198 rs1255237885 |
21 | F>V | No |
ClinGen gnomAD |
|
|
CA358282195 rs1293692826 |
21 | F>Y | No |
ClinGen TOPMed |
|
|
rs749457323 CA3086146 |
23 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA358282159 rs1325967620 |
23 | D>N | No |
ClinGen TOPMed |
|
|
CA358282131 rs754152579 |
24 | D>G | No |
ClinGen Ensembl |
|
|
rs754152579 CA106753015 |
24 | D>V | No |
ClinGen Ensembl |
|
|
rs376288938 CA106752986 |
26 | V>A | No |
ClinGen Ensembl |
|
|
CA3086145 rs773224523 |
26 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA106752974 rs923059232 |
27 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA106752955 rs376440100 |
28 | T>A | No |
ClinGen ESP TOPMed |
|
|
CA3086144 rs140230014 |
28 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3086142 rs749379592 |
29 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3086141 rs755430080 |
31 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358281939 rs1237601335 |
34 | N>S | No |
ClinGen gnomAD |
|
|
rs1189159615 CA358281916 |
35 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA358281887 rs1385879037 |
37 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3086139 rs200285105 |
39 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758055342 CA3086138 |
39 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA3086140 rs200285105 |
39 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1427235648 CA358281832 |
40 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs756759035 CA3086135 |
44 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3086134 rs753358967 |
45 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197198677 CA358281725 |
45 | L>R | No |
ClinGen gnomAD |
|
|
rs760628254 CA3086132 |
46 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA358281710 rs1409799649 |
46 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs760628254 CA3086133 |
46 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1455120866 CA358281699 |
47 | S>* | No |
ClinGen TOPMed |
|
|
CA358280736 rs1351166422 |
49 | I>V | No |
ClinGen gnomAD |
|
|
CA358280658 rs1281020121 |
51 | Y>C | No |
ClinGen gnomAD |
|
|
CA3086113 rs756184982 |
52 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs767258974 CA3086111 |
53 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA358280612 rs1416070846 |
54 | P>T | No |
ClinGen gnomAD |
|
|
CA358280592 rs1412065426 |
55 | Q>H | No |
ClinGen gnomAD |
|
|
CA3086110 rs759410050 |
57 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3086109 rs751268029 |
58 | G>* | No |
ClinGen ExAC gnomAD |
|
|
rs761959957 CA3086106 |
59 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765514639 CA3086108 |
59 | E>G | No |
ClinGen ExAC TOPMed |
|
|
rs572957929 CA3086105 |
60 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA106750892 rs774124333 |
60 | V>I | No |
ClinGen TOPMed |
|
|
CA358280532 rs774124333 |
60 | V>L | No |
ClinGen TOPMed |
|
|
rs1411490094 CA358280519 |
61 | Y>H | No |
ClinGen gnomAD |
|
|
CA3086102 rs776031995 |
63 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA106750847 rs768685773 |
63 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3086103 rs768685773 |
63 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358280444 rs1235763191 |
64 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 67 | D>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358280343 rs1447449500 |
69 | G>E | No |
ClinGen gnomAD |
|
|
rs746262714 CA358280333 |
70 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3086099 rs746262714 |
70 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746262714 CA3086100 |
70 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1206576994 CA358280308 |
72 | A>T | No |
ClinGen gnomAD |
|
|
rs1223338974 CA358280221 |
74 | W>* | No |
ClinGen gnomAD |
|
|
CA358280226 rs1253347517 |
74 | W>* | No |
ClinGen gnomAD |
|
|
rs369390687 CA3086086 |
75 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149787047 CA3086087 |
75 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM160040 CA106750187 rs202031051 |
77 | S>* | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA3086085 rs757535313 |
79 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs764196379 CA3086083 |
82 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754034859 CA3086084 |
82 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA106750163 rs554922273 |
90 | I>L | No |
ClinGen gnomAD |
|
|
CA106750159 rs893868313 |
90 | I>M | No |
ClinGen Ensembl |
|
|
rs139698546 CA3086082 |
90 | I>T | No |
ClinGen ESP ExAC TOPMed |
|
|
CA3086080 rs377056189 |
92 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1177445345 CA358279099 |
95 | W>R | No |
ClinGen gnomAD |
|
| TCGA novel | 96 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760145381 CA3086061 |
100 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1578600260 CA358278983 |
102 | E>Q | No |
ClinGen Ensembl |
|
|
rs150607652 CA3086058 |
103 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1483047318 CA358278947 |
104 | Q>R | No |
ClinGen gnomAD |
|
|
CA3086056 rs773655345 |
105 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3086057 CA106746989 rs143759343 |
105 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1177111168 CA358278920 |
107 | G>S | No |
ClinGen TOPMed |
|
|
CA358278893 rs1248041430 |
109 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 110 | G>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358278873 rs1324873797 |
110 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs976993264 CA106746977 |
112 | V>L | No |
ClinGen gnomAD |
|
|
CA3086054 rs565545189 |
118 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776265384 CA3086053 |
119 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3086050 rs372094051 |
122 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375037433 CA106746951 |
122 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs367659984 CA3086051 |
122 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1159480574 CA358278710 |
123 | S>Y | No |
ClinGen gnomAD |
|
|
rs1409292942 CA358278701 |
124 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200441670 CA3086049 |
125 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3086048 rs138190907 |
126 | L>* | No |
ClinGen ESP ExAC gnomAD |
|
|
RCV000736211 CA358278611 rs1560743601 |
129 | P>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA3086047 rs778611891 |
129 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200216393 CA3086046 |
131 | I>V | No |
ClinGen 1000Genomes ExAC |
|
|
rs752847375 CA3086045 |
133 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3086044 rs781379398 |
139 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748441593 CA3086028 |
141 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA106778506 rs891023907 |
142 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 145 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 146 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3086027 rs147415229 |
147 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358292978 rs751694520 |
148 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs751694520 CA3086025 |
148 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs755172152 CA3086026 |
148 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3086024 rs780277192 |
149 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3086023 rs759036391 |
150 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA106778451 rs200768352 |
154 | A>V | No |
ClinGen gnomAD |
|
|
rs1362788649 CA358292938 |
155 | Y>H | No |
ClinGen gnomAD |
|
|
CA358292928 rs1321747030 |
156 | I>V | No |
ClinGen gnomAD |
|
|
rs762112342 CA3086020 |
158 | L>I | No |
ClinGen ExAC |
|
| TCGA novel | 159 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_024400 CA3086017 rs2567241 |
160 | A>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 160 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358292900 rs1291338389 |
161 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 161 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358292891 rs1456944445 |
162 | T>A | No |
ClinGen gnomAD |
|
|
CA3086014 rs199546559 |
162 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs770855185 CA3086011 |
165 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3086013 rs759517299 |
165 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA358292869 rs1560741952 |
165 | L>S | No |
ClinGen Ensembl |
|
|
rs555545813 CA3086010 |
166 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA358292840 rs1403456059 |
168 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA358292828 rs1578596852 |
169 | N>K | No |
ClinGen Ensembl |
|
|
rs1207366342 CA358292826 |
170 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 171 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA106777536 rs77077626 |
172 | D>E | No |
ClinGen Ensembl |
|
|
rs1399860080 CA358292779 |
176 | Y>F | No |
ClinGen TOPMed |
|
|
CA358292745 rs1578596838 |
181 | G>R | No |
ClinGen Ensembl |
|
|
rs773794081 CA3085994 |
183 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3085992 rs772938327 |
187 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs772938327 CA3085991 |
187 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA106777528 COSM3125733 rs1048681488 |
187 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs769613380 CA3085990 |
188 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 188 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1289741599 CA358292682 |
190 | K>* | No |
ClinGen gnomAD |
|
|
CA3085989 rs747278452 |
191 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3085988 rs775889959 |
192 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1415488190 CA358292656 |
194 | I>L | No |
ClinGen gnomAD |
|
|
CA358292631 rs745955545 |
197 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3085987 rs772368476 |
197 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1028804903 CA106777503 |
197 | H>Q | No |
ClinGen Ensembl |
|
|
rs745955545 CA3085986 |
197 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs997377857 CA106777502 |
198 | K>N | No |
ClinGen Ensembl |
|
|
rs778980746 CA3085985 |
200 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs778980746 CA358292611 |
200 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA358292594 rs267600023 |
203 | G>* | No |
ClinGen Ensembl |
|
|
rs267600023 CA106777499 |
203 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA358292575 rs143088078 |
206 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3085981 rs143088078 |
206 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753019673 CA3085979 |
207 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3085980 rs756437881 COSM1427241 |
207 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1166063640 CA358292562 |
208 | K>E | No |
ClinGen gnomAD |
|
|
CA3085978 rs767171584 |
209 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1475083337 CA358292548 |
210 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA358292543 rs1248712505 |
210 | A>V | No |
ClinGen gnomAD |
|
|
CA3085977 rs374074309 |
211 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1246328089 CA358292517 |
214 | D>E | No |
ClinGen TOPMed |
|
|
rs751098299 CA3085975 |
214 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA358292519 rs1197085415 |
214 | D>V | No |
ClinGen TOPMed |
|
|
CA358292502 rs1226145208 |
217 | L>I | No |
ClinGen gnomAD |
|
|
CA106777488 rs949033630 |
222 | T>I | No |
ClinGen TOPMed |
|
|
CA3085974 rs765901430 |
223 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762851837 CA3085973 |
224 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342770175 CA358292442 |
225 | K>R | No |
ClinGen gnomAD |
|
|
rs1378491804 CA358292435 |
226 | T>I | No |
ClinGen TOPMed |
|
|
rs773175521 CA3085972 |
227 | H>D | No |
ClinGen ExAC |
|
|
rs527555756 CA106777470 |
227 | H>R | No |
ClinGen Ensembl |
|
|
rs1332665150 CA358292424 |
228 | L>F | No |
ClinGen gnomAD |
|
|
rs1419659300 CA358292406 |
231 | L>I | No |
ClinGen TOPMed |
|
|
rs990554212 CA106777467 |
232 | V>M | No |
ClinGen TOPMed |
|
|
rs751202437 CA3085955 |
233 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3085953 rs757961729 |
234 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs779473875 CA3085954 |
234 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3085952 rs749855543 |
238 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301915875 CA358292346 |
238 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1283313302 CA358292344 |
239 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 239 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1448361795 CA358292327 |
241 | V>L | No |
ClinGen gnomAD |
|
|
RCV000736210 CA3085949 rs201306926 |
244 | D>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 244 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145227876 CA3085948 |
246 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1361574673 CA358292278 |
249 | N>D | No |
ClinGen gnomAD |
|
|
rs141471500 CA3085946 |
250 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358292259 rs1258872323 |
251 | G>A | No |
ClinGen TOPMed |
|
|
rs759724778 CA3085945 |
252 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358292239 rs1264283557 |
255 | E>K | No |
ClinGen TOPMed |
|
|
rs1302623223 CA358292224 |
256 | D>E | No |
ClinGen gnomAD |
|
|
CA3085943 rs771016444 |
257 | V>M | No |
ClinGen ExAC TOPMed |
|
|
CA358292216 rs1430395532 |
258 | V>F | No |
ClinGen gnomAD |
|
|
CA358292200 rs763114653 |
261 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA3085941 rs763114653 |
261 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1172329093 CA358292192 |
262 | K>* | No |
ClinGen TOPMed |
|
|
CA358292176 rs1420900988 |
264 | P>L | No |
ClinGen TOPMed |
|
|
CA3085940 rs773210960 |
264 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3085938 COSM3940751 rs748640655 |
267 | I>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1173154886 CA358292143 |
269 | D>Y | No |
ClinGen TOPMed |
|
|
CA358292135 rs1476801105 |
270 | P>H | No |
ClinGen gnomAD |
|
|
CA3085936 rs114046582 |
270 | P>S | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs781586311 CA3085935 |
271 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs201814875 CA3085934 |
271 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA106776686 rs1033523927 |
272 | D>G | No |
ClinGen TOPMed |
|
|
CA3085933 rs143634804 |
273 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3085932 rs779780602 |
274 | K>N | No |
ClinGen ExAC gnomAD |
|
| rs1442881852 | 275 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1578595803 CA358292089 COSM1671339 |
277 | E>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA3085930 rs749950455 |
277 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs778560049 CA358292083 |
278 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs778560049 CA3085929 |
278 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1402134841 CA358292076 |
279 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA358292057 rs1221159366 |
281 | R>T | No |
ClinGen gnomAD |
|
|
rs1282782375 CA358292046 |
283 | K>Q | No |
ClinGen gnomAD |
|
|
CA358292023 rs1326003680 |
286 | D>A | No |
ClinGen TOPMed |
|
|
rs2175563 CA3085926 VAR_033776 |
290 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs760549858 CA3085924 |
294 | D>E | No |
ClinGen ExAC |
|
|
CA358291963 rs1177966768 |
295 | W>* | No |
ClinGen gnomAD |
|
|
rs371730556 CA3085910 |
295 | W>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1359535262 CA358291965 |
295 | W>R | No |
ClinGen gnomAD |
|
|
CA3085909 rs756795984 |
296 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA106775166 rs982900411 |
298 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 299 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358291900 rs1419054439 |
302 | Q>R | No |
ClinGen gnomAD |
|
|
CA3085905 rs752606255 |
303 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3085904 rs151290768 |
304 | E>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA358291875 rs1229903538 |
306 | S>T | No |
ClinGen gnomAD |
|
|
rs758698466 CA3085903 |
311 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA358291833 rs1289576844 |
312 | A>D | No |
ClinGen TOPMed |
|
|
CA358291835 rs1209605979 |
312 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 312 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358291813 rs1466422965 |
315 | L>F | No |
ClinGen gnomAD |
|
|
CA358291805 rs1259102079 |
316 | D>G | No |
ClinGen gnomAD |
|
|
CA106775099 rs1026884472 |
317 | D>V | No |
ClinGen TOPMed |
|
|
rs1276241084 CA358291792 |
318 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA358291784 rs1322295424 |
319 | P>S | No |
ClinGen gnomAD |
|
|
rs1322295424 CA358291786 |
319 | P>T | No |
ClinGen gnomAD |
|
|
rs368281076 CA106775095 |
320 | K>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
RCV000736209 CA358291777 rs1560739587 |
320 | K>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA3085901 rs750614926 |
322 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA106775067 rs868506790 |
324 | D>N | No |
ClinGen Ensembl |
|
|
CA3085900 rs765407381 |
326 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA358291715 rs1381783280 |
329 | K>R | No |
ClinGen gnomAD |
|
|
CA106775041 rs994986203 |
332 | D>E | No |
ClinGen gnomAD |
|
|
rs761906619 CA3085899 |
332 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA358291688 rs1180399217 COSM137882 |
333 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1385964552 CA358291690 |
333 | W>R | No |
ClinGen gnomAD |
|
|
CA3085878 rs142360750 |
337 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3085874 rs760000423 |
340 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs866578892 CA106774955 |
341 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 342 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774798286 CA3085873 |
343 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA106774954 rs564047375 |
346 | I>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA3085872 rs770710802 |
349 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1560739476 CA358291556 |
350 | A>V | No |
ClinGen Ensembl |
|
|
rs1233608196 CA358291554 |
351 | C>R | No |
ClinGen gnomAD |
|
|
CA3085869 rs370752860 |
352 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3085870 rs12513290 VAR_048590 |
352 | R>W | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1350520054 CA358291540 |
353 | I>T | No |
ClinGen gnomAD |
|
|
CA3085864 rs779824312 |
359 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1413335502 CA358291474 |
362 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA358291478 rs757530731 |
362 | M>K | No |
ClinGen ExAC TOPMed |
|
|
rs757530731 CA3085863 |
362 | M>T | No |
ClinGen ExAC TOPMed |
|
|
rs1466795892 CA358291480 |
362 | M>V | No |
ClinGen gnomAD |
|
|
rs111870867 CA106774934 |
363 | I>R | No |
ClinGen gnomAD |
|
|
CA358291463 rs1431688244 |
364 | D>G | No |
ClinGen gnomAD |
|
|
CA358291446 rs1480164088 |
366 | P>L | No |
ClinGen gnomAD |
|
|
rs145344727 CA3085860 |
368 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1436006306 CA358291429 |
369 | K>E | No |
ClinGen gnomAD |
|
|
CA358291411 rs1220861012 |
371 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA358291403 rs1346738083 |
372 | W>C | No |
ClinGen gnomAD |
|
|
CA106774917 rs766503714 |
372 | W>R | No |
ClinGen gnomAD |
|
|
rs1260895574 CA358291398 |
373 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3085859 rs377332621 |
373 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358291392 rs1329248082 |
374 | P>R | No |
ClinGen gnomAD |
|
|
CA3085858 rs373260677 |
375 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760053643 CA106774909 |
376 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760053643 CA3085857 |
376 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3085855 rs369975033 |
378 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1262458123 | 381 | N>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3085854 rs762735419 |
382 | Y>* | No |
ClinGen ExAC |
|
|
rs1452266943 CA358290486 |
384 | G>R | No |
ClinGen gnomAD |
|
|
rs139813038 CA3085835 |
387 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3085836 rs139813038 |
387 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358290456 rs1320418722 |
388 | P>H | No |
ClinGen gnomAD |
|
|
CA3085834 rs750744079 |
389 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs368889697 CA358290452 |
389 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3085833 rs368889697 |
389 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138845069 CA3085832 |
391 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776065662 CA3085831 |
392 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs866469996 CA106773833 |
394 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs147434096 CA3085828 |
398 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1671337 CA3085829 rs564584207 |
398 | E>K | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs371614813 CA3085827 |
399 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3085825 rs774127578 |
402 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA358290362 rs1289890851 |
402 | P>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 405 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358290315 rs1313442310 |
406 | T>P | No |
ClinGen gnomAD |
|
|
CA3085824 rs563971370 |
407 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA106773803 rs111866427 |
409 | S>G | No |
ClinGen Ensembl |
|
|
rs1366324196 CA358290270 |
409 | S>N | No |
ClinGen gnomAD |
|
|
CA3085823 rs748388584 |
411 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs369401077 CA3085822 |
412 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358290214 rs1560738698 |
414 | E>G | No |
ClinGen Ensembl |
|
|
CA358290218 rs755140861 |
414 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3085821 rs755140861 |
414 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3085820 rs142857415 |
417 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3085819 rs780722455 |
420 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA106773788 rs939656755 |
421 | D>A | No |
ClinGen Ensembl |
|
|
CA358290046 rs1329504184 |
426 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 427 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765625742 CA3085816 |
429 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs868121960 CA106773758 |
430 | C>R | No |
ClinGen Ensembl |
|
|
CA358289988 rs1188429932 |
430 | C>S | No |
ClinGen Ensembl |
|
|
CA3085815 COSM1051445 rs139581390 |
431 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs918563581 CA358289962 |
433 | K>E | No |
ClinGen gnomAD |
|
|
rs763692996 CA3085813 |
433 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs918563581 CA106773750 |
433 | K>Q | No |
ClinGen gnomAD |
|
|
CA3085812 rs760197947 |
435 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204598149 CA358289923 |
436 | A>E | No |
ClinGen TOPMed |
|
|
CA3085811 rs200652126 |
437 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 438 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3085810 rs767445232 |
439 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA106773736 rs77827238 |
440 | A>S | No |
ClinGen Ensembl |
|
|
CA3085808 rs189753269 |
442 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA106773725 rs200529128 |
443 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs372543725 CA358289791 |
445 | R>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3085805 rs777017750 |
446 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs141702107 CA3085806 |
446 | W>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358289773 rs1359913092 |
448 | I>V | No |
ClinGen gnomAD |
|
|
CA106773711 rs867165670 |
449 | M>I | No |
ClinGen Ensembl |
|
|
CA358289755 rs1446840911 |
450 | I>T | No |
ClinGen TOPMed |
|
|
rs953158697 CA106773707 |
451 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 453 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1343674596 CA358289738 |
453 | A>P | No |
ClinGen gnomAD |
|
|
rs1343674596 CA358289739 |
453 | A>T | No |
ClinGen gnomAD |
|
|
rs1413702945 CA358289734 |
453 | A>V | No |
ClinGen TOPMed |
|
|
rs1391116845 CA358289732 |
454 | N>H | No |
ClinGen gnomAD |
|
|
rs773076710 CA3085788 |
457 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA3085789 rs762821065 |
457 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA3085786 rs760969307 |
458 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3085787 rs769068873 |
458 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1244055995 CA358289665 |
462 | L>S | No |
ClinGen gnomAD |
|
|
rs1205886552 CA358289650 |
464 | A>T | No |
ClinGen gnomAD |
|
|
rs745892270 CA3085783 |
465 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA3085784 rs745892270 |
465 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs779493607 CA3085782 |
466 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs749654967 CA3085780 |
471 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs923544356 CA106773127 |
472 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA358289566 rs1308339609 |
472 | L>P | No |
ClinGen TOPMed |
|
|
CA3085778 rs755822028 |
474 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358289485 rs1465015406 |
478 | V>A | No |
ClinGen gnomAD |
|
|
CA106773119 rs145296380 |
479 | T>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3085777 rs148005858 |
479 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA358289441 rs1320692310 |
482 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 483 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1454924262 CA358289405 |
485 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3085775 rs750977409 |
486 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1344005257 CA358289386 |
487 | I>L | No |
ClinGen gnomAD |
|
|
CA3085772 rs762982679 |
489 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs750305265 CA3085771 |
490 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776190095 CA3085770 |
491 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 491 | C>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776190095 CA358289327 |
491 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3085769 rs761023013 COSM232048 |
494 | R>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 498 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358289146 rs1229226666 |
499 | K>I | No |
ClinGen gnomAD |
|
|
rs1405061426 CA358289119 |
500 | H>R | No |
ClinGen gnomAD |
|
| rs772112043 | 500 | H>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs75268705 CA106772953 |
505 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA3085748 rs767781613 |
505 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA358289003 rs1167371823 |
506 | K>* | No |
ClinGen gnomAD |
|
| rs1217577246 | 508 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774545807 CA3085746 |
508 | T>P | No |
ClinGen ExAC TOPMed |
|
| rs1217577246 | 508 | T>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3085744 rs376735755 |
509 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA106772949 rs376735755 |
509 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs543496137 CA3085743 |
510 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358288891 rs1278422456 |
511 | C>G | No |
ClinGen TOPMed |
|
|
rs1169965912 CA358288889 |
511 | C>Y | No |
ClinGen gnomAD |
|
|
rs770228868 CA3085742 |
515 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748518042 CA3085741 |
517 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1271072316 CA358288758 |
517 | G>R | No |
ClinGen gnomAD |
|
|
rs1197299144 CA358288677 |
520 | E>K | No |
ClinGen gnomAD |
|
|
rs1184914620 CA358288666 |
520 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs776857812 CA3085740 |
523 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200323159 CA358288566 |
526 | E>D | No |
ClinGen TOPMed |
|
|
rs768415712 CA3085739 |
526 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325073192 CA358288545 |
528 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1280798583 CA358288540 |
529 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1331014638 CA358288529 |
530 | L>V | No |
ClinGen gnomAD |
|
|
rs116522247 CA3085736 |
532 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs943592343 CA106772904 |
533 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 533 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358288483 rs1273860015 |
534 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1332443361 CA358288454 |
535 | D>E | No |
ClinGen TOPMed |
|
|
rs745319283 CA3085735 |
535 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA106772896 rs910817699 |
537 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA358288422 rs1431627800 |
538 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs112119780 CA106772895 |
539 | E>* | No |
ClinGen Ensembl |
|
|
rs779003793 CA3085733 |
539 | E>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 539 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA106772877 rs1043139889 |
540 | K>R | No |
ClinGen Ensembl |
|
|
rs1480092075 CA358288375 |
541 | K>Q | No |
ClinGen gnomAD |
|
| rs1364341002 | 541 | K>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757191932 CA3085732 |
542 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1475945062 CA358288295 |
544 | D>G | No |
ClinGen Ensembl |
|
|
rs1249472391 CA358288306 |
544 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1203975433 CA358288215 |
548 | L>P | No |
ClinGen gnomAD |
|
|
CA358288208 rs1260765057 |
549 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 550 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753730744 CA3085731 |
550 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1200982644 CA358287664 |
552 | E>G | No |
ClinGen TOPMed |
|
|
rs778559940 CA3085715 |
553 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs145828622 CA3085714 |
554 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3085713 rs749157176 |
558 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs202235605 CA3085712 |
559 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA106772011 rs113979220 |
559 | K>T | No |
ClinGen Ensembl |
|
|
CA358287523 rs1263436677 |
562 | E>D | No |
ClinGen TOPMed |
|
|
rs755892878 CA3085711 |
565 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 566 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1359794193 CA358287456 |
567 | I>T | No |
ClinGen gnomAD |
|
|
rs752479617 CA3085710 |
568 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs780258346 CA3085709 |
569 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3085706 rs765276633 |
572 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3085707 rs545177462 |
572 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA3085705 rs533174138 |
573 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3085704 rs372814271 |
574 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 576 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358287304 rs1374247112 |
578 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1414234966 CA358287298 |
578 | K>T | No |
ClinGen TOPMed |
|
|
CA358287266 rs1293113138 |
580 | G>A | No |
ClinGen TOPMed |
|
|
rs760964931 CA3085700 |
580 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760964931 CA358287270 |
580 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3085699 COSM1051441 rs775934904 |
581 | S>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA358287262 rs1290033273 |
581 | S>T | No |
ClinGen gnomAD |
|
|
rs771920685 CA3085698 |
584 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA358287105 rs1343543849 |
585 | M>L | No |
ClinGen gnomAD |
|
|
rs979855864 CA106771306 |
585 | M>T | No |
ClinGen gnomAD |
|
|
CA106771302 rs963241475 |
586 | K>E | No |
ClinGen TOPMed |
|
|
rs1442688423 CA358287077 |
587 | E>Q | No |
ClinGen gnomAD |
|
|
rs200748598 CA106771293 |
590 | E>G | No |
ClinGen 1000Genomes |
|
|
CA106771286 rs201629959 |
591 | S>G | No |
ClinGen 1000Genomes gnomAD |
|
|
CA106771281 rs370807639 |
591 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3085681 rs370807639 |
591 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753173653 CA3085680 |
594 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA3085679 rs767973851 COSM3775574 |
595 | G>E | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
CA3085678 rs759304940 |
596 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3085677 rs774180169 |
598 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM172058 rs1234895824 CA358286872 |
603 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs374544072 CA3085673 |
603 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358286863 rs1374881746 |
604 | K>E | No |
ClinGen TOPMed |
|
|
rs200583755 CA3085672 |
608 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1205610318 CA358286799 |
608 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs768467989 CA3085670 |
609 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA3085669 rs746754021 |
611 | D>E | No |
ClinGen ExAC gnomAD |
No associated diseases with O14967
2 regional properties for O14967
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Calreticulin/calnexin, conserved site | 107 - 122 | IPR018124-1 |
| conserved_site | Calreticulin/calnexin, conserved site | 139 - 147 | IPR018124-2 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| protein folding chaperone | Binding to a protein or a protein-containing complex to assist the protein folding process. |
| unfolded protein binding | Binding to an unfolded protein. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| binding of sperm to zona pellucida | The process in which the sperm binds to the zona pellucida glycoprotein layer of the egg. The process begins with the attachment of the sperm plasma membrane to the zona pellucida and includes attachment of the acrosome inner membrane to the zona pellucida after the acrosomal reaction takes place. |
| protein folding | The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure. |
| protein-containing complex assembly | The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. |
| single fertilization | The union of male and female gametes to form a zygote. |
| ubiquitin-dependent ERAD pathway | The series of steps necessary to target endoplasmic reticulum (ER)-resident proteins for degradation by the cytoplasmic proteasome. Begins with recognition of the ER-resident protein, includes retrotranslocation (dislocation) of the protein from the ER to the cytosol, protein ubiquitination necessary for correct substrate transfer, transport of the protein to the proteasome, and ends with degradation of the protein by the cytoplasmic proteasome. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MHFQAFWLCL | GLLFISINAE | FMDDDVETED | FEENSEEIDV | NESELSSEIK | YKTPQPIGEV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YFAETFDSGR | LAGWVLSKAK | KDDMDEEISI | YDGRWEIEEL | KENQVPGDRG | LVLKSRAKHH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AISAVLAKPF | IFADKPLIVQ | YEVNFQDGID | CGGAYIKLLA | DTDDLILENF | YDKTSYIIMF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GPDKCGEDYK | LHFIFRHKHP | KTGVFEEKHA | KPPDVDLKKF | FTDRKTHLYT | LVMNPDDTFE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VLVDQTVVNK | GSLLEDVVPP | IKPPKEIEDP | NDKKPEEWDE | RAKIPDPSAV | KPEDWDESEP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AQIEDSSVVK | PAGWLDDEPK | FIPDPNAEKP | DDWNEDTDGE | WEAPQILNPA | CRIGCGEWKP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PMIDNPKYKG | VWRPPLVDNP | NYQGIWSPRK | IPNPDYFEDD | HPFLLTSFSA | LGLELWSMTS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DIYFDNFIIC | SEKEVADHWA | ADGWRWKIMI | ANANKPGVLK | QLMAAAEGHP | WLWLIYLVTA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GVPIALITSF | CWPRKVKKKH | KDTEYKKTDI | CIPQTKGVLE | QEEKEEKAAL | EKPMDLEEEK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KQNDGEMLEK | EEESEPEEKS | EEEIEIIEGQ | EESNQSNKSG | SEDEMKEADE | STGSGDGPIK |
| SVRKRRVRKD |