Q8N4S0
PR
Gene name |
CCDC82 (HT025) |
Protein name |
Coiled-coil domain-containing protein 82 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79780 |
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 Q8N4S0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8N4S0-F1 | Predicted | AlphaFoldDB |
476 variants for Q8N4S0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001352902 CA6241533 rs758691852 RCV002250375 |
179 | R>* | Syndromic intellectual disability [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1289507699 CA382425308 |
2 | I>L | No |
ClinGen gnomAD |
|
|
CA382425290 rs1445051720 |
3 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1399326872 CA382425272 |
5 | R>G | No |
ClinGen TOPMed |
|
|
rs200385114 CA6241630 |
5 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6241629 rs367780371 |
6 | R>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1346871581 CA382425242 |
7 | H>R | No |
ClinGen TOPMed |
|
|
CA6241628 rs763851399 |
8 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1216929456 CA382425223 |
9 | T>A | No |
ClinGen TOPMed |
|
|
rs373680223 CA6241627 |
9 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382425210 rs1161249923 |
10 | R>K | No |
ClinGen gnomAD |
|
|
rs138210164 CA6241626 |
11 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1362079925 CA382425200 |
11 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs767039700 CA6241625 |
13 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1202072398 CA382425163 |
14 | K>T | No |
ClinGen gnomAD |
|
|
rs765614219 CA6241621 |
16 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1358038 CA6241620 rs776916861 |
17 | V>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs776916861 COSM70052 CA6241619 |
17 | V>M | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1349178954 CA382425107 |
19 | E>K | No |
ClinGen gnomAD |
|
|
rs768936266 CA382425083 |
21 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA226644066 rs1029687278 |
21 | K>R | No |
ClinGen Ensembl |
|
|
CA226644063 rs998242113 |
22 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA382425078 rs998242113 |
22 | S>Y | No |
ClinGen TOPMed |
|
|
CA6241616 rs371066492 |
23 | R>Q | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 24 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6241615 rs747223490 |
28 | R>* | No |
ClinGen ExAC gnomAD |
|
|
COSM176597 rs753336168 CA6241614 |
28 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA382425021 COSM933668 rs1322323262 |
31 | R>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs772155517 CA6241613 |
31 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs745892275 CA6241612 |
32 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA382425013 CA382425014 rs1408781819 |
32 | S>R | No |
ClinGen TOPMed |
|
|
CA6241611 rs778929601 |
33 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6241609 rs368549813 |
34 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6241610 rs61746142 |
34 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA382424996 rs1181944939 |
35 | S>L | No |
ClinGen gnomAD |
|
|
rs1444269006 CA382424993 |
36 | Q>E | No |
ClinGen gnomAD |
|
|
CA6241607 rs755887698 |
39 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1442084165 CA382424932 |
44 | L>F | No |
ClinGen gnomAD |
|
|
CA382424927 rs1284167405 |
45 | D>H | No |
ClinGen gnomAD |
|
|
CA6241605 rs752368176 |
46 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1360941917 COSM933667 CA382424903 |
48 | E>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1367414019 CA382424901 |
48 | E>G | No |
ClinGen TOPMed |
|
|
CA226644042 rs965452308 |
50 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6241603 rs374294895 |
51 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382424880 rs1373419676 |
51 | S>N | No |
ClinGen TOPMed |
|
|
rs374294895 CA6241604 |
51 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 52 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6241602 rs750977431 |
53 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382424854 rs1306561800 |
54 | E>D | No |
ClinGen TOPMed |
|
|
rs1271644835 CA382424852 |
55 | L>V | No |
ClinGen gnomAD |
|
|
rs572639014 CA6241601 |
57 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA226644034 rs888686983 |
58 | D>E | No |
ClinGen Ensembl |
|
|
CA6241599 rs762305827 |
59 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565324958 CA382424817 |
60 | S>G | No |
ClinGen Ensembl |
|
|
rs1866078752 RCV001267910 |
61 | F>missing | No |
ClinVar dbSNP |
|
|
rs777043301 CA6241597 |
62 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA382424791 rs1424181813 |
63 | N>S | No |
ClinGen gnomAD |
|
|
CA382424783 rs1391014106 |
64 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 64 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 65 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382424778 rs1320494066 |
65 | E>Q | No |
ClinGen TOPMed |
|
|
rs760923576 CA6241595 |
66 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382424769 rs760923576 |
66 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 66 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6241596 rs764423488 |
66 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217940353 CA382424762 |
67 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs775809245 CA6241594 |
70 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs774861008 CA6241593 |
72 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774861008 CA226644024 |
72 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3739359 CA382424725 rs774861008 |
72 | G>V | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA382424720 rs1288882880 |
73 | P>R | No |
ClinGen gnomAD |
|
|
rs370993097 CA382424707 |
75 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370993097 CA6241592 |
75 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382424702 rs1403597099 |
76 | N>D | No |
ClinGen TOPMed |
|
|
rs774226557 CA6241591 |
76 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA382424691 rs1274657332 |
77 | K>I | No |
ClinGen gnomAD |
|
|
rs376737499 CA6241590 |
79 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1275252676 CA382424677 |
80 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 80 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777759857 CA6241588 |
81 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA382424669 rs1343571398 |
81 | S>N | No |
ClinGen gnomAD |
|
|
CA382424666 rs1302544404 |
81 | S>R | No |
ClinGen gnomAD |
|
|
rs756006016 CA6241587 |
82 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs370464039 CA6241585 |
84 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs370464039 CA6241586 |
84 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6241583 rs145171089 |
91 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA382424593 rs1177613123 |
92 | S>R | No |
ClinGen gnomAD |
|
|
CA6241582 rs779418835 |
93 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6241581 rs757815025 |
95 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA382424561 rs1199399726 |
96 | D>A | No |
ClinGen gnomAD |
|
|
CA382424560 rs1199399726 |
96 | D>G | No |
ClinGen gnomAD |
|
|
CA382424563 rs1452888643 |
96 | D>Y | No |
ClinGen TOPMed |
|
|
CA6241579 rs764541758 |
97 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1278988371 CA382424532 |
100 | L>F | No |
ClinGen gnomAD |
|
|
CA6241577 rs752945009 |
101 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767781614 CA6241576 |
102 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382424513 rs1565324550 |
103 | S>A | No |
ClinGen Ensembl |
|
|
rs1282539218 CA382424511 |
103 | S>C | No |
ClinGen gnomAD |
|
|
CA6241575 rs759672040 |
104 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs759672040 CA382424505 |
104 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA382424503 rs1257479225 |
105 | N>D | No |
ClinGen TOPMed |
|
|
CA382424500 rs1374102810 |
105 | N>S | No |
ClinGen gnomAD |
|
|
CA6241573 rs771113136 |
106 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6241572 RCV000969068 rs75857759 |
108 | T>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs377425464 CA382424473 |
109 | Y>* | No |
ClinGen ESP gnomAD |
|
|
CA382424459 rs1369407380 |
111 | E>A | No |
ClinGen gnomAD |
|
|
CA6241571 rs773304204 |
113 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409470053 CA382424423 |
116 | I>T | No |
ClinGen gnomAD |
|
|
CA382424410 rs1174988027 |
118 | H>Y | No |
ClinGen gnomAD |
|
|
CA382424396 rs1480063984 |
120 | N>D | No |
ClinGen gnomAD |
|
|
rs1237683536 CA382424382 |
122 | D>N | No |
ClinGen gnomAD |
|
|
CA6241570 rs769798181 |
123 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA226643981 rs767218465 |
124 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs117071588 CA6241568 |
125 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 125 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1209228134 CA382424345 |
127 | E>K | No |
ClinGen gnomAD |
|
|
CA382424333 rs1309155347 |
128 | K>N | No |
ClinGen gnomAD |
|
|
VAR_050764 CA6241567 rs3748261 |
128 | K>R | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA6241566 rs779657939 |
129 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6241565 rs779657939 |
129 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA226643973 rs773453775 |
130 | L>V | No |
ClinGen Ensembl |
|
|
CA6241564 rs143022124 |
131 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1315965562 CA382424313 |
131 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6241563 rs749883135 |
132 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA6241561 rs778264160 |
135 | N>K | No |
ClinGen ExAC |
|
|
rs373116078 CA6241560 |
138 | N>D | No |
ClinGen ESP ExAC TOPMed |
|
|
rs753170761 CA6241559 |
138 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6241558 rs767757717 |
139 | K>N | No |
ClinGen ExAC |
|
|
CA382424258 rs1591222874 |
139 | K>R | No |
ClinGen Ensembl |
|
|
rs748628798 CA226643961 |
140 | Q>E | No |
ClinGen Ensembl |
|
|
rs1404312786 CA382424245 |
141 | T>I | No |
ClinGen gnomAD |
|
|
rs1018392735 CA226643959 |
142 | G>V | No |
ClinGen Ensembl |
|
|
rs533065669 CA6241556 |
143 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1006118849 CA226643953 |
144 | I>K | No |
ClinGen Ensembl |
|
|
CA6241555 rs766660190 |
145 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355449934 CA382424210 |
147 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6241554 rs777330495 |
148 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA226643943 rs17851661 |
149 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs17851661 VAR_026164 CA6241552 |
149 | Q>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs17851661 CA6241553 |
149 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6241551 rs761646107 |
150 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA226643939 rs994351966 |
150 | E>G | No |
ClinGen Ensembl |
|
|
CA6241549 rs768309826 |
152 | H>R | No |
ClinGen ExAC |
|
|
rs144935548 CA6241548 |
154 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6241547 rs779699828 |
155 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442423182 CA382424099 |
155 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs953787101 CA226643929 |
157 | D>Y | No |
ClinGen TOPMed |
|
|
rs778387124 CA226643926 |
158 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369937047 CA6241543 |
159 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150358447 CA6241542 |
161 | N>S | No |
ClinGen ESP ExAC |
|
|
CA6241541 rs747141302 |
163 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565323979 CA382423892 |
165 | G>V | No |
ClinGen Ensembl |
|
|
rs1248382945 CA382423881 |
166 | Q>H | No |
ClinGen gnomAD |
|
|
rs1422667326 CA382423854 |
168 | I>V | No |
ClinGen TOPMed |
|
|
CA226643917 rs905602351 |
169 | E>K | No |
ClinGen TOPMed |
|
|
CA226643914 rs567267684 |
171 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 172 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6241536 rs751895475 |
175 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs973839411 CA226643908 |
178 | K>M | No |
ClinGen TOPMed |
|
|
CA6241534 rs758691852 |
179 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141347770 CA6241532 |
179 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6241531 rs200868386 |
180 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761854053 CA6241530 |
181 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA226643899 CA226643901 rs780362842 |
181 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA382423599 rs1164953287 |
182 | R>I | No |
ClinGen gnomAD |
|
|
CA6241529 rs776469483 |
184 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA382423565 rs1193521812 |
185 | L>P | No |
ClinGen gnomAD |
|
|
CA382423562 rs1193521812 |
185 | L>Q | No |
ClinGen gnomAD |
|
|
CA382423551 rs1259445269 |
186 | S>F | No |
ClinGen gnomAD |
|
|
rs201779303 CA6241525 |
187 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6241526 rs775197053 |
187 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1224821966 CA382423519 |
189 | M>I | No |
ClinGen gnomAD |
|
|
CA382423492 rs1565323690 |
191 | D>G | No |
ClinGen Ensembl |
|
|
CA382423466 rs1284777020 |
193 | D>V | No |
ClinGen TOPMed |
|
|
CA6241523 rs773898426 |
194 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 196 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382423407 rs1265061500 |
198 | S>N | No |
ClinGen gnomAD |
|
|
CA226643887 rs770315262 |
198 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382423395 rs1293903786 |
199 | D>G | No |
ClinGen gnomAD |
|
|
rs374416200 CA382423400 |
199 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374416200 CA6241521 |
199 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781564254 CA226643882 |
200 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6241520 rs781564254 |
200 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 203 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs960582648 CA226643878 |
206 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs780554969 CA6241517 |
207 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs747400465 CA6241518 |
207 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1168108368 CA382423294 |
209 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA226643874 rs199813886 |
209 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6241516 rs199813886 |
209 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765519872 CA6241514 |
210 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765519872 CA6241515 |
210 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1371082200 CA382423289 |
210 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs757309380 CA6241513 |
211 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147815991 CA6241512 |
211 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1196552635 CA382423257 |
214 | V>D | No |
ClinGen gnomAD |
|
|
rs775320210 CA6241509 |
214 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1366781637 CA382423231 |
216 | D>G | No |
ClinGen TOPMed |
|
|
CA382423200 rs1471235718 |
218 | G>S | No |
ClinGen gnomAD |
|
|
rs759225013 CA6241507 |
218 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1245038498 CA382423186 |
219 | S>P | No |
ClinGen gnomAD |
|
|
CA226643862 rs867743921 |
220 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs770568903 CA6241505 |
221 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA382423090 rs1222270358 |
223 | M>V | No |
ClinGen gnomAD |
|
|
rs1344281910 CA382423025 |
225 | Q>P | No |
ClinGen gnomAD |
|
|
rs1281432786 CA382423004 |
226 | K>E | No |
ClinGen TOPMed |
|
|
CA226643855 rs896069644 |
226 | K>N | No |
ClinGen Ensembl |
|
|
CA382422976 rs1328976103 |
227 | T>I | No |
ClinGen gnomAD |
|
|
CA382422974 rs1328976103 |
227 | T>S | No |
ClinGen gnomAD |
|
|
rs1393885109 CA382422964 |
228 | P>L | No |
ClinGen gnomAD |
|
|
rs1297319426 CA382422949 |
229 | E>G | No |
ClinGen gnomAD |
|
|
CA6241503 rs772776124 |
230 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 231 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6241502 rs758694149 |
232 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA226643850 rs758694149 |
232 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360144552 CA382422891 |
232 | L>V | No |
ClinGen TOPMed |
|
|
rs780608376 CA6241500 |
234 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA382422830 rs1287135192 |
235 | Q>* | No |
ClinGen TOPMed |
|
|
rs1450476532 CA382422783 |
237 | R>* | No |
ClinGen TOPMed |
|
|
CA6241499 rs546513208 |
237 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382422775 rs1198311185 |
238 | E>G | No |
ClinGen gnomAD |
|
|
CA6241498 rs746190867 |
239 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs144517283 CA6241497 |
240 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382422704 rs1202280549 |
243 | L>R | No |
ClinGen gnomAD |
|
|
CA382422692 rs1279565577 |
244 | K>R | No |
ClinGen gnomAD |
|
|
CA382422683 COSM933664 rs1240558260 |
245 | E>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA226643840 rs140570301 |
245 | E>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1308036755 CA382422653 |
247 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 247 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142795035 CA6241494 |
248 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382422612 rs1565323073 |
250 | R>K | No |
ClinGen Ensembl |
|
|
rs756052765 CA6241493 |
251 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752598700 CA6241492 |
252 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6241491 rs118069802 |
252 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6241490 rs148541924 |
255 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372213966 CA6241489 |
255 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA226643829 rs372213966 |
255 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6241488 rs766013232 |
256 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs772648562 CA6241486 |
257 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs772648562 CA6241487 |
257 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA382422553 rs1375016861 |
258 | G>D | No |
ClinGen TOPMed |
|
|
CA382422558 rs1333410818 |
258 | G>S | No |
ClinGen TOPMed |
|
|
CA382422547 rs1445496324 |
259 | R>S | No |
ClinGen gnomAD |
|
|
rs1284917808 CA382422542 |
260 | D>G | No |
ClinGen gnomAD |
|
|
CA6241485 rs769319229 |
260 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA226643821 rs944286570 |
261 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 261 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 262 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761370628 CA6241484 |
262 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA382422347 rs1278921773 |
263 | D>G | No |
ClinGen TOPMed |
|
|
rs368959188 CA6241458 |
263 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1480084121 CA382422335 |
264 | S>A | No |
ClinGen gnomAD |
|
|
rs769946048 CA6241457 |
265 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA226643669 rs769946048 |
265 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748293369 CA6241456 |
266 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA382422302 rs1405616476 |
266 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 266 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6241455 rs527967916 |
267 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6241453 rs746935562 |
269 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs779817861 CA6241452 |
270 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382422187 rs1170011769 |
270 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1443181182 COSM1358034 CA382422154 |
272 | S>N | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1490687427 CA382422099 |
275 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1200837600 CA382422115 |
275 | V>I | No |
ClinGen gnomAD |
|
|
rs750130885 CA6241449 |
276 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1482275897 CA382422091 |
276 | D>H | No |
ClinGen TOPMed |
|
|
rs142006540 CA6241450 |
276 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA382422042 rs1241294231 |
278 | E>G | No |
ClinGen gnomAD |
|
|
CA382422027 rs1212584930 |
279 | E>G | No |
ClinGen gnomAD |
|
|
rs1274777932 CA382422034 |
279 | E>K | No |
ClinGen gnomAD |
|
|
CA6241447 rs772526152 |
280 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1478491235 CA382421954 |
282 | D>G | No |
ClinGen TOPMed |
|
|
CA382421966 rs1225317540 |
282 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6241445 rs763677528 COSM1188374 |
283 | N>D | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs760163929 CA6241444 |
285 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1355329802 CA382421877 |
286 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 287 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6241443 rs140141313 |
290 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773580954 CA226643650 |
291 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6241442 rs766748804 |
292 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA226643646 rs371172475 |
293 | Y>C | No |
ClinGen ESP |
|
|
rs763390036 CA6241441 |
294 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6241438 rs748346355 |
296 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs146108139 CA6241439 |
296 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1470261908 CA382421619 |
297 | D>N | No |
ClinGen gnomAD |
|
|
CA226643638 rs748547388 |
298 | F>C | No |
ClinGen Ensembl |
|
|
rs776730305 CA6241437 |
298 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA382421481 rs1457130703 |
301 | Q>R | No |
ClinGen gnomAD |
|
|
rs199786105 CA6241436 |
303 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1447960070 CA382421431 |
304 | E>K | No |
ClinGen TOPMed |
|
|
CA6241434 rs747009767 |
306 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6241433 rs780050369 |
307 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 308 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867481985 CA226643628 |
309 | N>D | No |
ClinGen Ensembl |
|
|
rs778842156 CA6241430 |
309 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs745747688 CA6241431 |
309 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382421190 rs1218181745 |
313 | Q>* | No |
ClinGen gnomAD |
|
|
CA226643623 rs946626825 |
313 | Q>H | No |
ClinGen TOPMed |
|
|
rs1285819762 CA382421128 |
315 | E>A | No |
ClinGen gnomAD |
|
|
rs753512579 CA6241427 |
315 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373297177 CA6241424 |
317 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs931296690 CA226643613 |
319 | T>A | No |
ClinGen gnomAD |
|
|
rs1340308995 CA382420964 |
321 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs988454017 CA226643607 |
322 | L>V | No |
ClinGen TOPMed |
|
|
CA6241422 rs138476594 |
326 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1190939441 CA382420808 |
327 | Q>* | No |
ClinGen TOPMed |
|
|
rs1175604325 COSM933660 CA382420749 |
327 | Q>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA382420784 rs10831519 |
327 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_026165 CA6241420 rs10831519 |
327 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM198825 rs1430158819 CA382417816 |
332 | S>Y | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA382417801 rs1158261390 |
333 | F>L | No |
ClinGen TOPMed |
|
|
rs749100479 CA6241390 |
333 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs950768273 CA226635081 |
335 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA382417727 rs1269733425 |
336 | H>Q | No |
ClinGen gnomAD |
|
|
CA382417742 rs1487986304 |
336 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1323534773 CA382417717 |
337 | Y>C | No |
ClinGen TOPMed |
|
|
rs777706734 CA6241389 |
338 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6241388 rs769534077 |
339 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs747723002 CA6241387 |
343 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs754466924 CA6241385 CA382417578 |
344 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6241383 rs560603637 |
347 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382417485 rs1302558510 |
349 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1565312883 CA382417492 |
349 | I>S | No |
ClinGen Ensembl |
|
|
rs754255394 CA6241381 |
351 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764349024 CA6241380 |
352 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1337117322 CA382417428 |
353 | D>E | No |
ClinGen TOPMed |
|
|
rs761001695 CA6241379 |
353 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6241378 rs377388069 |
354 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377388069 CA226635053 |
354 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 356 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143507867 CA6241375 |
358 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1169825184 CA382417349 |
358 | G>R | No |
ClinGen gnomAD |
|
|
rs766492295 CA6241373 |
359 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs766492295 CA6241374 |
359 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA382416576 rs1343622377 |
362 | D>G | No |
ClinGen gnomAD |
|
|
CA382416537 rs1260825782 |
364 | T>A | No |
ClinGen gnomAD |
|
|
CA382416374 rs1430150851 |
369 | Y>* | No |
ClinGen gnomAD |
|
|
CA6241340 rs771606338 |
369 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs906860394 CA226633168 |
372 | D>G | No |
ClinGen Ensembl |
|
|
rs1194693255 CA382416330 |
372 | D>Y | No |
ClinGen Ensembl |
|
|
rs778158711 CA6241338 |
373 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs745337304 CA6241339 |
373 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA382416283 COSM933658 rs1182611261 |
374 | L>P | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA382416191 rs1444795464 |
376 | S>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 376 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382416166 rs1395404234 |
377 | L>R | No |
ClinGen gnomAD |
|
|
CA382416141 rs1356456225 |
378 | H>R | No |
ClinGen Ensembl |
|
|
rs1401510304 CA382416152 |
378 | H>Y | No |
ClinGen gnomAD |
|
|
CA6241337 rs756578172 |
381 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6241336 rs748530491 |
383 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6241335 COSM933657 rs199822469 |
383 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs199822469 CA382415983 |
383 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199822469 CA382415988 |
383 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1353352572 CA382415945 |
386 | Q>P | No |
ClinGen TOPMed |
|
|
rs755300587 CA6241334 |
388 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6241333 rs751861324 |
388 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1304194006 CA382415824 |
393 | V>L | No |
ClinGen TOPMed |
|
|
CA226633126 rs1012943632 |
395 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 396 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6241331 rs758564028 |
397 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs147827239 CA6241330 |
397 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382415726 rs147827239 |
397 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382415736 rs758564028 |
397 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761794652 CA6241328 |
399 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 401 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200246505 CA6241327 |
401 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs934472910 CA226633057 |
401 | Q>L | No |
ClinGen Ensembl |
|
|
rs763850284 CA6241326 |
403 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA382414318 rs1277661168 |
404 | E>A | No |
ClinGen gnomAD |
|
|
CA382414322 rs1277661168 |
404 | E>V | No |
ClinGen gnomAD |
|
|
CA6241305 rs757178798 |
405 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1351831485 CA382414300 COSM933656 |
405 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA6241304 rs753848269 |
407 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 408 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776286640 CA6241302 |
409 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6241303 rs763975074 |
409 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173396149 CA382414174 |
410 | S>F | No |
ClinGen gnomAD |
|
|
CA382414115 rs1478756839 |
414 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1244602418 CA382414097 |
415 | H>N | No |
ClinGen gnomAD |
|
|
rs1197777100 CA382413972 |
420 | E>K | No |
ClinGen gnomAD |
|
|
rs553942551 CA226628642 |
421 | N>K | No |
ClinGen TOPMed |
|
|
CA226628638 rs145938297 |
422 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
CA382413883 rs1463409202 |
423 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1463409202 CA382413875 |
423 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA382413834 rs1156897210 |
425 | Q>R | No |
ClinGen TOPMed |
|
|
rs767224853 CA6241300 |
427 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1347905901 CA382413770 |
428 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs142315081 CA6241299 |
431 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1561899 rs202142231 CA6241298 |
431 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 432 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs577041830 CA226628618 |
432 | Y>C | No |
ClinGen Ensembl |
|
|
CA6241297 rs371250562 |
432 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6241296 rs762320483 |
433 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1369866170 CA382413562 |
436 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA382413556 rs1176363874 |
436 | S>L | No |
ClinGen gnomAD |
|
|
CA226628615 rs145072428 |
440 | S>P | No |
ClinGen ESP |
|
|
rs777290067 CA6241295 |
441 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149992614 CA6241294 |
443 | L>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6241293 rs747443742 |
446 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382413324 rs139262571 |
447 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746067996 CA6241290 |
449 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757384777 CA6241288 |
451 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1171592071 CA382413209 |
451 | I>T | No |
ClinGen gnomAD |
|
|
CA6241289 rs370081474 COSM1605416 |
451 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA382413133 rs1254198095 |
453 | N>K | No |
ClinGen TOPMed |
|
|
rs1483926840 CA382413085 |
455 | M>V | No |
ClinGen TOPMed |
|
|
rs1239701750 CA382413052 |
456 | S>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 456 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6241286 rs777695068 |
457 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA226628543 rs978003769 |
457 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA382413045 rs1457199867 |
457 | H>Y | No |
ClinGen gnomAD |
|
|
CA6241285 rs756043230 |
459 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6241284 rs151240727 |
459 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs538688810 CA6241264 |
461 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751245848 CA6241263 |
464 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA382411780 rs1377617796 |
465 | G>D | No |
ClinGen gnomAD |
|
|
rs1565300322 CA382411787 |
465 | G>S | No |
ClinGen Ensembl |
|
|
rs1591162707 CA382411718 |
469 | A>P | No |
ClinGen Ensembl |
|
| TCGA novel | 469 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6241262 rs143699327 |
470 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382411687 rs1400059466 |
471 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6241261 rs374755193 |
471 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382411652 rs1363885370 |
473 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs749998983 CA6241260 |
473 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6241259 rs764806237 |
474 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA382411529 rs1255442378 |
478 | L>R | No |
ClinGen TOPMed |
|
|
rs752331960 CA6241258 |
479 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA226623121 rs998895385 |
480 | H>Y | No |
ClinGen TOPMed |
|
|
CA382411459 rs1478167474 |
482 | K>I | No |
ClinGen gnomAD |
|
|
CA382411457 rs1265458738 |
482 | K>N | No |
ClinGen gnomAD |
|
|
rs776159948 CA6241257 |
484 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767858209 CA6241256 |
487 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382411393 rs1591162502 |
488 | E>K | No |
ClinGen Ensembl |
|
|
COSM933653 rs1224221809 CA382411367 |
490 | C>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA6241255 rs759951325 |
491 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6241253 rs771243683 |
494 | M>K | No |
ClinGen ExAC |
|
|
CA6241254 rs774577085 |
494 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA382411309 rs1430082307 |
495 | T>P | No |
ClinGen TOPMed |
|
|
rs749491502 CA6241251 |
497 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 499 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773320074 CA6241249 |
500 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA382411246 rs1367846899 |
500 | D>G | No |
ClinGen gnomAD |
|
|
rs201473665 CA6241248 |
501 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA382411231 rs781194187 |
502 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781194187 CA6241246 |
502 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382411215 rs1467133882 |
503 | V>A | No |
ClinGen gnomAD |
|
|
rs1555047003 CA6241244 |
505 | E>* | No |
ClinGen Ensembl |
|
|
CA6241243 rs754865472 |
506 | T>R | No |
ClinGen ExAC |
|
|
CA6241242 rs746878162 |
507 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs758162852 CA6241240 |
509 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6241239 rs750127560 |
509 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382411141 rs1373068855 |
511 | F>C | No |
ClinGen TOPMed |
|
|
rs370981495 CA382411128 |
513 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370981495 CA6241237 |
513 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140072300 CA6241238 |
513 | R>W | Variant assessed as Somatic; 4.647e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6241236 rs753223173 |
515 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6241235 rs768141681 |
520 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs759950258 CA6241234 |
521 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6241233 rs752005830 |
522 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA382411035 rs1242150637 |
522 | E>V | No |
ClinGen Ensembl |
|
|
rs866289334 CA226619006 |
523 | K>E | No |
ClinGen Ensembl |
|
|
rs763310100 CA6241211 |
524 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs146137167 CA226618973 |
526 | Q>R | No |
ClinGen ESP TOPMed |
|
|
CA6241209 rs200144066 |
529 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 533 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768645326 CA6241206 |
534 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA382409934 rs775300811 |
535 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6241204 rs775300811 |
535 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1181649103 CA382409922 |
536 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs980069562 CA226618936 |
536 | Y>D | No |
ClinGen TOPMed |
|
|
rs745727779 CA6241202 |
538 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs745727779 CA382409883 |
538 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA382409795 rs1198219692 |
540 | E>D | No |
ClinGen gnomAD |
|
|
CA6241201 rs142932570 |
541 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1241914590 CA382409719 |
544 | L>F | No |
ClinGen gnomAD |
|
|
rs1381658856 CA382409721 |
544 | L>W | No |
ClinGen Ensembl |
No associated diseases with Q8N4S0
3 regional properties for Q8N4S0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | CASTOR, ACT domain | 72 - 140 | IPR027795-1 |
| domain | CASTOR, ACT domain | 262 - 322 | IPR027795-2 |
| domain | CASTOR1, N-terminal | 9 - 69 | IPR040778 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MIHVRRHETR | RNSKSHVPEQ | KSRVDWRRTK | RSSISQLLDS | DEELDSEEFD | SDEELDSDES |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FENDEELDSN | KGPDCNKTPG | SERELNLSKI | QSEGNDSKCL | INSGNGSTYE | EETNKIKHRN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IDLQDQEKHL | SQEDNDLNKQ | TGQIIEDDQE | KHLSQEDNDL | NKQTGQIIED | DLEEEDIKRG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KRKRLSSVMC | DSDESDDSDI | LVRKVGVKRP | RRVVEDEGSS | VEMEQKTPEK | TLAAQKREKL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QKLKELSKQR | SRQRRSSGRD | FEDSEKESCP | SSDEVDEEEE | EDNYESDEDG | DDYIIDDFVV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QDEEGDEENK | NQQGEKLTTS | QLKLVKQNSL | YSFSDHYTHF | ERVVKALLIN | ALDESFLGTL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YDGTRQKSYA | KDMLTSLHYL | DNRFVQPRLE | SLVSRSRWKE | QYKERVENYS | NVSIHLKNPE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NCSCQACGLH | RYCKYSVHLS | GELYNTRTMQ | IDNFMSHDKQ | VFTVGRICAS | RTRIYHKLKH |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FKFKLYQECC | TIAMTEEVED | EQVKETVERI | FRRSKENGWI | KEKYGQLEEY | LNFADYFQEE |
| KFEL |