Q99829
PR
Gene name |
CPNE1 |
Protein name |
Copine-1 |
Names |
Chromobindin 17, Copine I |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8904 |
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 Q99829
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q99829-F1 | Predicted | AlphaFoldDB |
467 variants for Q99829
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs776515600 CA9836463 |
2 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA408765465 rs1192975484 |
3 | H>R | No |
ClinGen gnomAD |
|
|
rs768500814 CA9836462 |
5 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258531349 CA408765446 |
6 | T>A | No |
ClinGen gnomAD |
|
|
CA408765436 rs746823674 CA9836461 |
7 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1483117027 CA408765427 |
9 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1483117027 CA408765428 |
9 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs779761206 CA9836460 |
9 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA314165682 rs879941215 |
11 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA9836458 rs373039555 |
12 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408765388 rs1244795272 |
15 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA408765387 rs1244795272 |
15 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA314165678 rs934378424 |
18 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs768123038 CA9836454 |
20 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408765348 rs11543246 |
21 | D>N | No |
ClinGen gnomAD |
|
|
rs11543246 CA314165673 |
21 | D>Y | No |
ClinGen gnomAD |
|
|
CA9836453 rs200966574 |
23 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA408765317 rs1339383409 |
25 | K>N | No |
ClinGen gnomAD |
|
|
CA408765313 rs1399372658 |
26 | S>Y | No |
ClinGen gnomAD |
|
|
rs968838540 CA314165661 |
28 | P>T | No |
ClinGen TOPMed |
|
|
rs201887235 CA9836450 |
30 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9836448 rs11543244 |
31 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs11543244 CA314165640 |
31 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408765278 rs1239195135 |
32 | L>F | No |
ClinGen gnomAD |
|
|
CA408765265 rs1456827116 |
34 | Q>* | No |
ClinGen gnomAD |
|
|
rs765270865 CA9836447 |
34 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1257972639 CA408765264 |
34 | Q>R | No |
ClinGen gnomAD |
|
|
CA9836446 rs147201215 |
36 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1243648075 CA408765238 |
38 | G>E | No |
ClinGen gnomAD |
|
|
rs768589232 CA9836444 |
39 | G>A | No |
ClinGen ExAC gnomAD |
|
| rs752095650 | 39 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408765226 rs141874071 |
40 | S>I | No |
ClinGen ESP gnomAD |
|
|
rs141874071 CA314165627 |
40 | S>N | No |
ClinGen ESP gnomAD |
|
|
rs760569862 CA9836442 |
42 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1481891856 CA408765181 |
45 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs148114662 CA9836425 |
46 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9836426 rs148114662 |
46 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408765177 rs1329217194 |
46 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs867132384 CA314165484 |
49 | R>Q | No |
ClinGen TOPMed |
|
|
rs201132363 CA9836424 |
49 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408765153 rs1249424406 |
50 | V>G | No |
ClinGen TOPMed |
|
|
CA9836420 rs189152020 |
51 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs532811874 CA9836419 |
51 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9836421 rs189152020 |
51 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748909302 CA9836418 |
52 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376430362 CA408764755 |
54 | S>* | No |
ClinGen gnomAD |
|
|
rs1376430362 CA408764749 |
54 | S>L | No |
ClinGen gnomAD |
|
|
CA9836417 rs777447111 |
54 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9836415 rs747556335 |
55 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA314165471 rs892953173 |
56 | P>S | No |
ClinGen Ensembl |
|
|
CA314165467 rs1054419432 |
57 | E>* | No |
ClinGen Ensembl |
|
|
CA408764710 rs1214043409 |
58 | F>I | No |
ClinGen gnomAD |
|
|
CA9836414 rs780603252 |
59 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1279084193 CA408764688 |
60 | K>E | No |
ClinGen gnomAD |
|
|
CA9836411 rs114166030 |
62 | L>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9836412 rs114166030 |
62 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758776816 CA9836413 |
62 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA314165450 rs11543242 |
65 | E>Q | No |
ClinGen Ensembl |
|
|
CA408764606 rs1274165434 |
66 | Y>F | No |
ClinGen gnomAD |
|
|
CA314165436 rs924405602 |
67 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9836406 COSM1026266 rs142217317 |
67 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs142217317 CA9836407 |
67 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767501752 CA9836404 |
68 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs201813494 CA9836403 |
70 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408764558 rs1335356847 |
70 | T>I | No |
ClinGen gnomAD |
|
|
CA9836402 rs774231714 |
71 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA9836399 rs772964150 |
73 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 74 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747677512 CA9836397 |
75 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs200568497 CA314165374 |
75 | R>H | No |
ClinGen TOPMed |
|
|
CA408764454 rs775940632 |
78 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408764467 rs1474879191 |
78 | I>V | No |
ClinGen gnomAD |
|
|
CA314165361 rs1045441171 |
79 | Y>C | No |
ClinGen gnomAD |
|
|
rs772667986 CA9836395 |
79 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs115030900 CA9836394 |
81 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408764410 rs1568913799 |
82 | D>G | No |
ClinGen Ensembl |
|
|
CA9836392 rs368557730 |
83 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9836390 rs749579304 |
84 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA314165343 rs938226263 |
85 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA9836389 rs564598987 |
85 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408764367 rs564598987 |
85 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756272478 CA9836388 |
86 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA9836387 rs752825231 |
87 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9836386 rs767453300 |
91 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA9836385 rs754965752 |
92 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9836382 rs762832785 |
95 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408764254 rs1568913667 |
95 | G>R | No |
ClinGen Ensembl |
|
|
rs574748992 CA9836380 |
96 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9836378 rs554913918 |
96 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs574748992 CA9836379 |
96 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408764245 rs574748992 |
96 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs554913918 CA408764238 |
96 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408764212 rs1459090906 |
98 | E>D | No |
ClinGen gnomAD |
|
|
CA9836377 rs141465480 |
98 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408764206 rs1388842415 |
99 | C>* | No |
ClinGen TOPMed |
|
|
CA9836376 rs146597334 |
99 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774835402 CA9836375 |
99 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9836360 rs761579934 |
104 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA408764162 rs1163330669 |
105 | V>M | No |
ClinGen TOPMed |
|
|
CA314165185 rs1040694441 |
107 | S>C | No |
ClinGen TOPMed |
|
|
CA9836357 rs200203648 |
108 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1241388458 CA408764117 |
112 | L>F | No |
ClinGen gnomAD |
|
|
rs1241388458 CA408764119 |
112 | L>I | No |
ClinGen gnomAD |
|
|
rs903121765 CA314165170 |
116 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA9836352 rs781779862 |
116 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408764086 rs1368843943 |
117 | K>E | No |
ClinGen gnomAD |
|
|
rs1211538664 CA408764081 |
117 | K>N | No |
ClinGen gnomAD |
|
|
CA314165168 rs1024191244 |
118 | P>S | No |
ClinGen Ensembl |
|
|
CA408764072 rs1294776485 |
119 | G>E | No |
ClinGen gnomAD |
|
|
CA408764075 rs1367246832 |
119 | G>R | No |
ClinGen TOPMed |
|
|
CA314165163 rs1013934827 |
122 | A>S | No |
ClinGen gnomAD |
|
|
CA408764055 rs1013934827 |
122 | A>T | No |
ClinGen gnomAD |
|
|
CA9836349 rs748441881 |
122 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA408764051 rs1311704298 |
123 | G>R | No |
ClinGen TOPMed |
|
|
CA9836346 rs747096210 |
124 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9836347 rs747096210 |
124 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9836348 rs140750759 COSM1202162 |
124 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1158030359 CA408764031 |
127 | I>L | No |
ClinGen gnomAD |
|
| rs376888862 | 128 | T>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201171766 CA408764021 |
128 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201171766 CA9836345 |
128 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772251656 CA9836327 |
129 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA408763971 rs1349482306 |
130 | S>* | No |
ClinGen TOPMed |
|
|
CA314165075 rs370672712 |
131 | A>T | No |
ClinGen ESP |
|
|
rs1204972772 CA408763944 CA408763942 |
132 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs745871143 CA408763932 |
133 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745871143 CA9836326 |
133 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 134 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408763904 rs1258097070 |
135 | K>R | No |
ClinGen gnomAD |
|
|
CA9836325 rs150959550 |
137 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150959550 CA314165068 |
137 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142583527 CA9836324 |
138 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9836323 rs142583527 |
138 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777585822 CA9836322 |
138 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755743263 CA9836321 |
139 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA9836320 rs139448129 |
140 | V>I | No |
ClinGen ESP ExAC |
|
|
rs919512097 CA314165062 |
141 | T>A | No |
ClinGen Ensembl |
|
|
CA9836318 rs754480205 |
142 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs750982115 CA9836317 |
143 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA408763794 rs1334393290 |
144 | V>A | No |
ClinGen gnomAD |
|
|
CA408763798 rs1381111360 |
144 | V>I | No |
ClinGen gnomAD |
|
|
rs201974322 CA9836316 |
145 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9836315 rs762311350 |
146 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 146 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9836314 rs776888682 |
149 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1463576023 CA408763752 |
151 | K>E | No |
ClinGen gnomAD |
|
|
rs1601423918 CA408763742 |
152 | K>T | No |
ClinGen Ensembl |
|
|
CA408763710 rs1311123038 |
154 | F>L | No |
ClinGen gnomAD |
|
|
rs1568912645 CA408763705 |
155 | L>R | No |
ClinGen Ensembl |
|
|
rs1236812796 CA408763708 |
155 | L>V | No |
ClinGen gnomAD |
|
|
CA9836286 rs563618839 |
156 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs542240996 CA9836285 |
157 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9836284 rs773196207 |
159 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 159 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747945877 CA9836282 |
161 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs780895693 CA9836281 |
162 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1381340598 CA408763659 |
163 | E>A | No |
ClinGen gnomAD |
|
|
CA408763657 rs1381340598 |
163 | E>V | No |
ClinGen gnomAD |
|
|
rs768325036 CA9836280 |
165 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370102140 CA9836279 |
166 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408763638 rs370102140 |
166 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9836278 rs375741618 |
166 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9836277 rs757924953 |
167 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA408763631 rs1490690164 |
167 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1221314589 CA408763623 |
168 | G>V | No |
ClinGen gnomAD |
|
|
rs1488382208 CA408763614 |
170 | G>R | No |
ClinGen gnomAD |
|
|
rs1287905989 CA408763592 |
172 | W>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1275875438 CA408763584 |
173 | H>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 176 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1349941706 CA408763557 |
177 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1275349033 CA408763553 CA408763551 |
177 | R>S | No |
ClinGen gnomAD |
|
|
rs1349941706 CA408763556 |
177 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs372765516 CA9836276 |
178 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408763532 rs1347499198 |
179 | E>D | No |
ClinGen gnomAD |
|
|
CA408763541 rs1320419948 |
179 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1185127726 CA408763470 |
182 | K>R | No |
ClinGen gnomAD |
|
|
CA408763450 rs1568912201 |
184 | N>H | No |
ClinGen Ensembl |
|
|
rs753236790 CA9836254 |
185 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408763400 rs1308120054 |
188 | T>I | No |
ClinGen gnomAD |
|
|
CA9836253 rs539253450 |
188 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751783616 CA9836251 |
191 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs974899564 CA314164704 |
191 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9836252 rs751783616 |
191 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA314164703 rs200599189 |
193 | S>* | No |
ClinGen ESP TOPMed |
|
|
rs200599189 CA314164702 |
193 | S>L | No |
ClinGen ESP TOPMed |
|
|
CA314164696 rs967240640 |
196 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA408763247 rs1446271670 |
199 | F>I | No |
ClinGen TOPMed |
|
|
CA408763224 rs1381290575 |
200 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA314164685 rs917067939 |
204 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs147778789 CA9836248 |
206 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408763149 rs1448121100 |
206 | T>P | No |
ClinGen gnomAD |
|
|
CA9836247 rs201007397 |
208 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1409011885 CA408763093 |
209 | Q>R | No |
ClinGen gnomAD |
|
|
CA9836221 rs774139541 |
210 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9836220 rs770620615 |
211 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs6579255 VAR_024423 CA9836219 |
211 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs769237251 CA9836217 |
212 | C>R | No |
ClinGen ExAC |
|
|
CA9836216 rs747424817 |
214 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200788892 CA9836215 |
215 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371307358 CA408762822 |
218 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs746148948 CA9836213 |
218 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757405591 CA9836211 |
219 | G>R | No |
ClinGen ExAC TOPMed |
|
|
CA408762806 rs1158337749 |
219 | G>V | No |
ClinGen gnomAD |
|
|
CA408762802 rs944866832 |
220 | S>A | No |
ClinGen TOPMed |
|
|
CA314164586 rs944866832 |
220 | S>T | No |
ClinGen TOPMed |
|
|
rs201246578 CA9836210 |
221 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9836209 rs144007734 |
222 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA635723043 rs1479615785 |
224 | I>* | No |
ClinGen gnomAD |
|
|
CA9836207 rs75325519 |
225 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408762662 rs1259290232 |
227 | F>V | No |
ClinGen gnomAD |
|
|
rs1215731018 CA408762639 |
228 | H>R | No |
ClinGen gnomAD |
|
|
rs992678218 CA314164580 |
229 | T>A | No |
ClinGen Ensembl |
|
|
CA9836205 rs759388915 |
229 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA314164558 rs377481427 |
230 | S>G | No |
ClinGen ESP TOPMed |
|
|
rs200628131 CA9836203 |
233 | Q>* | No |
ClinGen 1000Genomes ExAC |
|
|
CA9836202 rs762653844 |
235 | Q>R | No |
ClinGen ExAC gnomAD |
|
| rs761281950 | 238 | P>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9836200 rs373193856 |
238 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 238 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761245343 CA9836180 |
239 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs776142413 CA9836179 |
243 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs866138048 CA314164454 |
245 | H>Y | No |
ClinGen Ensembl |
|
|
rs774749739 CA9836176 |
247 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373498616 CA9836175 |
248 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1182317687 CA408762113 |
250 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 255 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149512897 CA9836174 |
260 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9836173 rs34136956 |
262 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408761924 rs34136956 |
262 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs554567058 CA9836172 |
262 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs11543243 CA314164433 |
264 | K>M | No |
ClinGen TOPMed |
|
|
CA408761891 rs11543243 |
264 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 265 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748177150 CA9836171 |
265 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA314164419 rs770764469 |
266 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs751519915 CA408761834 |
267 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751519915 CA9836168 |
267 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371835970 CA9836169 |
267 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748349728 CA9836152 |
268 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs62211672 CA9836151 |
269 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs62211672 CA314164328 |
269 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1452198378 CA408761692 |
271 | E>G | No |
ClinGen gnomAD |
|
|
rs1160829311 CA408761707 |
271 | E>K | No |
ClinGen gnomAD |
|
|
CA9836149 rs571154925 |
272 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408761639 rs1481250951 |
273 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 276 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780124069 CA9836147 |
276 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA314164294 rs536364102 |
277 | Y>C | No |
ClinGen gnomAD |
|
|
CA9836146 rs758290743 |
277 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA408761569 rs758290743 |
277 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA314164291 rs979982101 |
281 | G>A | No |
ClinGen TOPMed |
|
|
CA408761473 rs1338315927 |
285 | N>T | No |
ClinGen TOPMed |
|
|
CA9836145 rs150850717 |
286 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs757075939 CA9836126 |
291 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA9836125 rs749000379 COSM1681650 |
293 | T>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA408761203 rs1188945328 |
295 | S>C | No |
ClinGen TOPMed |
|
|
rs777419917 CA9836124 |
296 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9836123 rs755693484 |
297 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408761130 rs1568910661 |
298 | D>Y | No |
ClinGen Ensembl |
|
|
rs758874748 CA9836120 |
299 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9836121 rs758874748 |
299 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750909596 CA9836119 |
300 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408761077 rs1455003860 |
300 | S>F | No |
ClinGen gnomAD |
|
|
rs750909596 CA408761096 |
300 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408761056 rs1403285469 |
301 | S>* | No |
ClinGen gnomAD |
|
|
CA408761044 rs1302014147 |
302 | P>R | No |
ClinGen TOPMed |
|
|
rs1399839810 CA408760995 |
304 | S>A | No |
ClinGen TOPMed |
|
|
CA314164168 rs368463175 |
304 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9836118 rs368463175 |
304 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA408760981 rs1410251863 |
305 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9836117 rs762223311 |
306 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142070667 CA9836116 |
307 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1318027744 CA408760917 |
309 | S>G | No |
ClinGen TOPMed |
|
|
rs753953005 CA9836115 |
311 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1185369618 CA408760871 |
311 | T>I | No |
ClinGen gnomAD |
|
|
rs375673393 CA9836113 |
312 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9836114 rs192879008 |
312 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1209498725 CA408760843 |
313 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1209498725 CA408760848 |
313 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9836112 rs138805916 |
314 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1275351183 CA408760799 |
315 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA314164134 rs202100028 |
315 | E>G | No |
ClinGen 1000Genomes |
|
|
rs759461711 CA9836111 |
316 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA408760773 rs1341925537 |
317 | L>V | No |
ClinGen gnomAD |
|
|
CA408760755 rs774335949 |
318 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs774335949 CA9836110 |
318 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs770719685 CA9836109 |
320 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749083164 CA9836108 |
321 | W>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 322 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9836107 rs777501055 |
323 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA408760659 rs1326476856 |
324 | G>D | No |
ClinGen gnomAD |
|
|
rs780606701 CA9836104 |
326 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs754505538 CA9836103 |
327 | V>I | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 328 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9836102 rs532357764 |
328 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146065192 CA9836101 |
329 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9836100 rs757799480 |
330 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA314164099 rs972376737 |
331 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs754279361 CA9836099 |
332 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408760519 rs1409522111 |
333 | D>V | No |
ClinGen gnomAD |
|
|
rs767961253 CA408760499 |
335 | L>P | No |
ClinGen Ensembl |
|
|
rs767961253 COSM1615517 CA314163967 |
335 | L>R | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs773127444 CA9836073 |
336 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA408760415 rs1296569005 |
343 | A>T | No |
ClinGen TOPMed |
|
|
rs761610196 CA9836071 |
344 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs184456021 CA9836072 |
344 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9836070 rs143035537 |
345 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9836069 rs768378833 |
346 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1219453962 CA408760381 |
346 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9836066 rs12481228 VAR_048846 |
347 | P>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs138480523 CA9836067 |
347 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408760344 rs1246703301 |
350 | Q>P | No |
ClinGen gnomAD |
|
|
rs1601419658 CA408759348 |
353 | H>P | No |
ClinGen Ensembl |
|
|
COSM1751417 rs745378738 CA314163716 |
354 | E>* | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9836044 rs773962387 |
354 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745378738 CA9836045 |
354 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408759300 rs1434351507 |
355 | F>C | No |
ClinGen gnomAD |
|
|
rs1251498806 CA408759285 |
356 | A>S | No |
ClinGen gnomAD |
|
|
CA408759280 rs1206138268 |
356 | A>V | No |
ClinGen gnomAD |
|
|
CA9836042 rs375126375 |
358 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781648925 CA9836041 |
360 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1035708000 CA314163681 |
362 | S>G | No |
ClinGen Ensembl |
|
|
CA408759200 rs1601419560 |
363 | N>T | No |
ClinGen Ensembl |
|
|
rs532392894 CA314163663 |
364 | P>H | No |
ClinGen 1000Genomes |
|
|
rs768894792 CA9836040 |
364 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1230722929 CA408759183 |
365 | Y>H | No |
ClinGen TOPMed |
|
|
rs747312184 CA9836039 |
365 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408759170 rs1394340259 |
366 | C>R | No |
ClinGen gnomAD |
|
|
rs1348844571 CA408758803 |
368 | G>A | No |
ClinGen gnomAD |
|
|
CA408758804 rs1348844571 |
368 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 369 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1601414777 CA408758761 |
372 | I>V | No |
ClinGen Ensembl |
|
|
rs1486403785 CA408758747 |
373 | V>E | No |
ClinGen gnomAD |
|
|
CA408758727 rs1441418354 |
376 | Y>S | No |
ClinGen Ensembl |
|
|
rs772303395 CA9836016 |
377 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746060459 CA9836015 |
377 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 379 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201918169 COSM280106 CA9836011 |
384 | R>C | large_intestine breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs148978209 CA9836010 |
384 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408758646 rs148978209 |
384 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9836009 rs138915422 |
386 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408758621 rs1193040667 |
387 | G>S | No |
ClinGen TOPMed |
|
|
rs1480743469 CA408758595 |
389 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1169619129 CA408758589 |
390 | N>H | No |
ClinGen TOPMed |
|
|
CA314160163 rs907772329 |
390 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9836006 rs751250213 |
391 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765969455 CA9836005 |
394 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA408758520 rs1261447587 |
396 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs762381858 CA9836004 |
397 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408758505 rs1329112342 |
397 | H>Y | No |
ClinGen TOPMed |
|
|
CA9836003 rs772710552 |
399 | A>V | No |
ClinGen ExAC |
|
|
rs1601414507 CA408758461 |
401 | F>V | No |
ClinGen Ensembl |
|
|
CA408758447 rs1568906521 |
402 | A>P | No |
ClinGen Ensembl |
|
|
rs150317541 CA9836000 |
404 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1003706752 CA314160122 |
405 | A>T | No |
ClinGen TOPMed |
|
|
CA408758402 rs1288000913 |
405 | A>V | No |
ClinGen gnomAD |
|
|
CA9835999 rs73905908 |
406 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1333209350 CA408758367 |
408 | Q>H | No |
ClinGen gnomAD |
|
|
rs772421629 CA408758335 |
411 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs775874171 CA9835998 |
411 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA314160118 rs775874171 |
411 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9835997 rs772421629 |
411 | A>V | No |
ClinGen ExAC gnomAD |
|
|
COSM280105 rs147762472 CA9835996 |
412 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs111565842 CA314160105 |
412 | S>P | No |
ClinGen Ensembl |
|
|
CA9835973 rs773209756 |
413 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748150919 CA9835971 |
413 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs748150919 CA9835972 |
413 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
COSM3840879 CA408758227 rs1200051766 |
416 | M>I | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs754894735 CA9835969 |
416 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1343348323 CA408758186 |
420 | L>V | No |
ClinGen gnomAD |
|
|
CA9835968 rs77812991 |
422 | D>H | No |
ClinGen 1000Genomes ExAC |
|
|
rs142231372 CA314159673 |
423 | G>A | No |
ClinGen ESP |
|
|
rs1226844078 CA408758139 |
424 | A>G | No |
ClinGen gnomAD |
|
|
CA408758131 rs1405701677 |
425 | V>L | No |
ClinGen TOPMed |
|
|
CA9835965 rs200157036 |
426 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9835962 rs753279707 |
430 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs768046649 CA408758066 |
432 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9835961 rs768046649 |
432 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759991229 CA9835960 |
432 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1372178371 CA408758057 |
433 | E>Q | No |
ClinGen gnomAD |
|
|
CA314159633 rs1054199387 |
437 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9835959 rs201480145 |
437 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9835957 rs763147085 |
438 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9835956 rs370549870 |
439 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408757966 rs1473836927 |
441 | L>P | No |
ClinGen gnomAD |
|
|
CA408757943 rs1187127175 |
443 | M>I | No |
ClinGen gnomAD |
|
|
CA314159612 rs752467501 |
443 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs978255066 CA314159617 |
443 | M>V | No |
ClinGen Ensembl |
|
|
CA314159611 rs1041295714 |
444 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9835954 rs373565990 |
447 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1262884229 CA408757901 |
448 | V>A | No |
ClinGen TOPMed |
|
|
rs774288607 CA9835952 |
449 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA314159585 rs918134800 |
449 | G>V | No |
ClinGen Ensembl |
|
|
rs1423656286 CA408757889 COSM1681649 |
451 | G>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA9835951 rs746941698 |
451 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA9835950 rs746941698 |
451 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1601413058 CA408757880 |
452 | G>V | No |
ClinGen Ensembl |
|
|
CA408757844 rs1387363481 |
457 | A>D | No |
ClinGen TOPMed |
|
|
rs1283018875 CA408757839 |
458 | M>T | No |
ClinGen gnomAD |
|
|
rs1425357622 CA408757842 |
458 | M>V | No |
ClinGen TOPMed |
|
|
rs1442569321 CA408757824 |
460 | Q>* | No |
ClinGen gnomAD |
|
|
rs201306063 CA9835948 |
460 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA408757803 rs756864788 |
463 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA9835946 rs778542371 |
463 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756864788 CA9835945 |
463 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9835944 rs753371770 |
464 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs777245874 CA9835943 |
465 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs777245874 CA408757792 |
465 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA9835942 rs755523544 |
466 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408757765 rs1473075243 |
470 | T>A | No |
ClinGen gnomAD |
|
|
CA9835941 rs138742674 |
471 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1482945570 CA408757753 |
471 | R>H | No |
ClinGen gnomAD |
|
|
CA408757759 rs138742674 |
471 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 472 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408757738 rs1247594676 |
473 | G>R | No |
ClinGen gnomAD |
|
|
rs1026581347 CA314159531 |
477 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs148449950 CA9835940 COSM3963508 |
478 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA9835939 rs200345671 |
478 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750683312 CA9835938 |
479 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762077624 CA9835936 |
483 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286109705 CA408757602 |
483 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 484 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776899313 CA9835935 |
485 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9835933 rs185008214 |
487 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9835931 rs144567952 |
487 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144567952 CA9835932 |
487 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9835934 rs185008214 |
487 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9835929 rs759648669 |
488 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs369309263 CA9835930 |
488 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1157233441 CA408757512 |
491 | N>D | No |
ClinGen gnomAD |
|
|
rs1207526316 CA408756932 |
492 | A>D | No |
ClinGen gnomAD |
|
|
rs552365228 CA9835903 |
492 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs552365228 CA408756939 |
492 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779486998 CA9835902 |
493 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1443683641 CA408756924 |
493 | P>S | No |
ClinGen TOPMed |
|
|
CA9835900 rs754189553 |
494 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757709412 CA9835901 |
494 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs984730120 CA408756889 |
496 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA314159276 rs984730120 |
496 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs143661266 COSM185983 CA9835897 |
501 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs774263481 CA9835894 COSM185982 |
503 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA408756790 rs1431409626 |
504 | E>D | No |
ClinGen TOPMed |
|
|
rs1432235999 CA408756802 |
504 | E>K | No |
ClinGen gnomAD |
|
|
rs1481756971 CA408756776 |
505 | V>G | No |
ClinGen gnomAD |
|
|
CA408756768 rs1480629951 |
506 | P>L | No |
ClinGen TOPMed |
|
|
CA9835892 rs372870192 |
508 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs11543240 CA9835889 |
513 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408756658 rs1275156003 |
515 | A>G | No |
ClinGen gnomAD |
|
|
rs368440396 CA9835887 |
517 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146046800 CA9835886 |
517 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408756619 rs1322425661 |
518 | W>S | No |
ClinGen gnomAD |
|
|
CA9835884 rs142770190 |
520 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9835883 rs142770190 |
520 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756402048 CA9835881 |
521 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs767697870 CA9835879 |
523 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9835877 rs751568636 |
524 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA9835876 rs138171097 |
524 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1289516607 CA408756515 |
526 | P>L | No |
ClinGen TOPMed |
|
|
rs1409498996 CA408756502 |
527 | S>L | No |
ClinGen gnomAD |
|
|
CA408756478 rs1357335434 |
529 | K>R | No |
ClinGen TOPMed |
|
|
rs1568904791 CA408756455 |
531 | P>S | No |
ClinGen Ensembl |
|
|
rs764911073 CA9835873 |
532 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA9835874 rs764911073 |
532 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA408756407 rs776135002 |
534 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776135002 CA9835871 |
534 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776135002 CA9835872 |
534 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
VAR_048847 CA9835870 rs11543239 |
535 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
No associated diseases with Q99829
5 regional properties for Q99829
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | C2 domain | 1 - 115 | IPR000008-1 |
| domain | C2 domain | 124 - 247 | IPR000008-2 |
| domain | von Willebrand factor, type A | 289 - 491 | IPR002035 |
| domain | Copine, C-terminal | 263 - 524 | IPR010734 |
| domain | Copine, C2B domain | 139 - 251 | IPR037768 |
Functions
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| aggresome | An inclusion body formed by dynein-dependent retrograde transport of an aggregated protein on microtubules. |
| azurophil granule membrane | The lipid bilayer surrounding an azurophil granule, a primary lysosomal granule found in neutrophil granulocytes that contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nuclear membrane | Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| calcium-dependent phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester, in the presence of calcium. |
| endopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain. |
| identical protein binding | Binding to an identical protein or proteins. |
| NF-kappaB binding | Binding to NF-kappaB, a transcription factor for eukaryotic RNA polymerase II promoters. |
| phosphatidylserine binding | Binding to phosphatidylserine, a class of glycophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of L-serine. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to calcium ion | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus. |
| lipid metabolic process | The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. |
| negative regulation of DNA binding | Any process that stops or reduces the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). |
| negative regulation of gene expression | Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| negative regulation of NIK/NF-kappaB signaling | Any process that stops, prevents or reduces the frequency, rate or extent of NIK/NF-kappaB signaling. |
| neuron projection extension | Long distance growth of a single neuron projection involved in cellular development. A neuron projection is a prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| positive regulation of neuron differentiation | Any process that activates or increases the frequency, rate or extent of neuron differentiation. |
| positive regulation of protein kinase B signaling | Any process that activates or increases the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B. |
| positive regulation of tumor necrosis factor-mediated signaling pathway | Any process that activates or increases the frequency, rate or extent of tumor necrosis factor-mediated signaling pathway. |
| proteolysis | The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. |
| regulation of I-kappaB kinase/NF-kappaB signaling | Any process that modulates I-kappaB kinase/NF-kappaB signaling. |
| vesicle-mediated transport | A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. |
5 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAHCVTLVQL | SISCDHLIDK | DIGSKSDPLC | VLLQDVGGGS | WAELGRTERV | RNCSSPEFSK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TLQLEYRFET | VQKLRFGIYD | IDNKTPELRD | DDFLGGAECS | LGQIVSSQVL | TLPLMLKPGK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PAGRGTITVS | AQELKDNRVV | TMEVEARNLD | KKDFLGKSDP | FLEFFRQGDG | KWHLVYRSEV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IKNNLNPTWK | RFSVPVQHFC | GGNPSTPIQV | QCSDYDSDGS | HDLIGTFHTS | LAQLQAVPAE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FECIHPEKQQ | KKKSYKNSGT | IRVKICRVET | EYSFLDYVMG | GCQINFTVGV | DFTGSNGDPS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SPDSLHYLSP | TGVNEYLMAL | WSVGSVVQDY | DSDKLFPAFG | FGAQVPPDWQ | VSHEFALNFN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PSNPYCAGIQ | GIVDAYRQAL | PQVRLYGPTN | FAPIINHVAR | FAAQAAHQGT | ASQYFMLLLL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TDGAVTDVEA | TREAVVRASN | LPMSVIIVGV | GGADFEAMEQ | LDADGGPLHT | RSGQAAARDI |
| 490 | 500 | 510 | 520 | 530 | |
| VQFVPYRRFQ | NAPREALAQT | VLAEVPTQLV | SYFRAQGWAP | LKPLPPSAKD | PAQAPQA |