Q9HCE1
Gene name |
MOV10 |
Protein name |
Helicase MOV-10 |
Names |
Armitage homolog, Moloney leukemia virus 10 protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4343 |
EC number |
3.6.4.13: Acting on ATP; involved in cellular and subcellular movement |
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 Q9HCE1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9HCE1-F1 | Predicted | AlphaFoldDB |
671 variants for Q9HCE1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1674524213 RCV001270187 |
944 | Y>C | Premature ovarian failure [ClinVar] | Yes |
ClinVar dbSNP |
| TCGA novel | 3 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1009403 rs201021656 |
8 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1009404 rs201021656 |
8 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1261144526 CA341657925 |
8 | R>W | No |
ClinGen gnomAD |
|
|
CA1009405 COSM527358 rs757439589 |
11 | R>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA28932175 rs921435174 |
11 | R>W | No |
ClinGen Ensembl |
|
|
CA1009407 rs750261841 |
12 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341657962 rs1399003142 |
12 | E>K | No |
ClinGen TOPMed |
|
|
CA341658011 rs1430194817 |
16 | C>Y | No |
ClinGen gnomAD |
|
|
CA341658037 rs1476462227 |
18 | E>G | No |
ClinGen TOPMed |
|
|
CA1009409 rs4436392 |
18 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341658063 rs1402382909 |
20 | F>L | No |
ClinGen gnomAD |
|
|
rs749178705 CA1009410 |
24 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA341658139 rs1339040561 |
25 | G>E | No |
ClinGen gnomAD |
|
|
rs1356051346 CA341658172 |
27 | D>G | No |
ClinGen gnomAD |
|
|
CA1009412 rs778301654 |
28 | M>V | No |
ClinGen ExAC |
|
|
rs747646761 CA1009413 |
32 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341658250 rs1487424564 |
33 | E>K | No |
ClinGen TOPMed |
|
|
CA341658269 rs1348865725 |
34 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs771890048 CA1009414 |
36 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1253949409 CA341658303 |
37 | T>I | No |
ClinGen gnomAD |
|
|
CA341658335 rs1570738607 |
40 | N>T | No |
ClinGen Ensembl |
|
|
CA1009415 rs772974608 |
41 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1178960804 CA341658360 |
42 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 44 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1381949786 CA341658405 |
44 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 46 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1432145788 CA341659922 |
48 | G>E | No |
ClinGen gnomAD |
|
|
CA1009434 rs535795554 |
49 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1570777436 CA341659925 |
49 | T>P | No |
ClinGen Ensembl |
|
|
CA1009436 rs561408204 |
51 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1323344238 CA341659943 |
52 | P>S | No |
ClinGen gnomAD |
|
|
CA341659976 rs1391988109 |
57 | M>K | No |
ClinGen gnomAD |
|
|
rs749621392 CA1009437 |
57 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA1009438 rs769086801 |
59 | Y>C | No |
ClinGen ExAC |
|
|
CA1009440 rs761943431 |
63 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs774901640 CA1009439 |
63 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA341660017 rs1449778327 |
63 | I>V | No |
ClinGen gnomAD |
|
|
CA341660028 rs1218095632 |
65 | N>D | No |
ClinGen gnomAD |
|
|
CA341660031 rs1260418243 |
65 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1557758951 CA341660044 |
67 | A>G | No |
ClinGen Ensembl |
|
|
CA1009441 rs142716470 |
68 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760900913 CA1009444 |
69 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760900913 CA1009443 |
69 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1425963286 CA341660087 |
71 | K>R | No |
ClinGen gnomAD |
|
|
rs530067492 CA1009446 |
73 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1009445 rs753608129 |
73 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs898051637 CA28940601 |
74 | V>F | No |
ClinGen gnomAD |
|
|
rs898051637 CA341660110 |
74 | V>I | No |
ClinGen gnomAD |
|
|
rs1249458430 CA341660122 |
75 | R>K | No |
ClinGen TOPMed |
|
|
CA341660128 rs1300039529 |
75 | R>S | No |
ClinGen gnomAD |
|
|
rs1343577793 CA341660138 |
76 | F>Y | No |
ClinGen gnomAD |
|
|
rs765144227 CA341660173 |
79 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752675873 CA1009448 |
79 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1009447 rs765144227 |
79 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1009450 rs777431510 |
80 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142209700 CA1009451 |
81 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA341660202 rs1353895265 |
81 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs756998623 CA1009452 |
83 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1009456 COSM674304 rs769053734 |
84 | D>E | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs370478051 CA1009454 |
84 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341660235 rs1215671055 |
84 | D>V | No |
ClinGen gnomAD |
|
|
CA1009457 rs748662950 |
85 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs772510801 CA1009458 |
86 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1295849842 CA341660243 |
86 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA341660256 rs1223287112 |
88 | P>S | No |
ClinGen gnomAD |
|
|
CA1009460 rs200320463 |
90 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1009461 rs760706906 |
93 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA1009462 rs771106179 |
95 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341660308 rs771106179 |
95 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs965415458 CA341660312 |
96 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs965415458 CA28940719 |
96 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1009463 rs370943143 |
99 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759316287 CA1009464 |
100 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA341660347 rs1437210400 |
101 | K>N | No |
ClinGen TOPMed |
|
|
rs1377443369 CA341660359 |
103 | H>Y | No |
ClinGen gnomAD |
|
|
CA1009468 rs763001472 |
108 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1277456835 CA341660394 |
108 | A>V | No |
ClinGen gnomAD |
|
|
CA1009469 rs764080471 |
109 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1272791331 CA341660399 |
109 | K>R | No |
ClinGen TOPMed |
|
|
CA341660402 rs1331310640 |
110 | I>L | No |
ClinGen TOPMed |
|
|
rs112819798 CA28940767 |
112 | Y>C | No |
ClinGen Ensembl |
|
|
CA341660431 rs1211287542 |
113 | D>E | No |
ClinGen gnomAD |
|
|
CA341660432 rs1280139404 |
114 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 114 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1009491 rs762808148 |
119 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA341661101 rs1485599954 |
120 | G>A | No |
ClinGen TOPMed |
|
|
CA1009492 rs764172622 |
121 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA341661128 rs1557759789 |
122 | H>D | No |
ClinGen Ensembl |
|
|
CA341661140 rs1395587995 |
123 | G>S | No |
ClinGen gnomAD |
|
|
rs1343304614 CA341661161 |
125 | D>N | No |
ClinGen TOPMed |
|
|
rs576181686 CA1009494 |
126 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1213596168 CA341661211 |
129 | Q>R | No |
ClinGen TOPMed |
|
|
CA341661275 rs1403751867 |
134 | A>V | No |
ClinGen gnomAD |
|
|
rs147811471 CA1009496 |
135 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755814593 CA1009497 |
136 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1341606707 CA341661288 |
136 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1009499 rs376126674 |
140 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341661339 rs1381738704 |
140 | L>R | No |
ClinGen gnomAD |
|
|
rs376126674 CA1009498 |
140 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150316337 CA28944065 |
141 | I>T | No |
ClinGen ESP TOPMed |
|
|
rs758746811 CA1009500 |
142 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1009502 rs116655742 |
142 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1009501 rs116655742 |
142 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1489928734 CA341661374 |
144 | D>G | No |
ClinGen gnomAD |
|
|
rs771284179 CA1009503 |
144 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA1009504 rs781350691 |
145 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs149029432 CA1009505 |
147 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770092703 CA1009506 |
147 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA341661404 rs1191010617 |
149 | E>K | No |
ClinGen gnomAD |
|
|
rs1229285420 CA341661413 |
150 | V>L | No |
ClinGen gnomAD |
|
|
rs749155784 CA1009508 |
151 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1009510 rs768570170 |
152 | T>A | No |
ClinGen ExAC |
|
|
rs984338977 CA28944116 |
152 | T>N | No |
ClinGen TOPMed |
|
|
rs1557760037 CA341661433 |
154 | R>K | No |
ClinGen Ensembl |
|
|
CA341661436 rs1255574071 |
154 | R>S | No |
ClinGen TOPMed |
|
|
rs761827588 CA1009512 |
156 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 156 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341661459 rs1423610309 |
158 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA1009514 rs368056345 |
159 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341661498 rs1202889083 |
164 | T>I | No |
ClinGen TOPMed |
|
|
CA28944157 rs916698901 |
165 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1009515 rs760074539 |
168 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1009518 rs754556608 |
169 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1009517 rs753482453 |
169 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1290953232 CA341661530 |
170 | P>A | No |
ClinGen TOPMed |
|
|
CA341661537 rs1357473822 |
171 | L>F | No |
ClinGen gnomAD |
|
|
rs1286812272 CA341661546 |
172 | C>F | No |
ClinGen gnomAD |
|
|
CA341661542 rs1245608525 |
172 | C>R | No |
ClinGen gnomAD |
|
|
CA1009520 rs574586722 |
173 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1009519 rs764455810 |
173 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs370341687 CA1009523 |
174 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1009522 rs370341687 |
174 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146126921 CA1009524 |
175 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1326816490 CA341661563 |
176 | Q>* | No |
ClinGen TOPMed |
|
|
CA1009527 rs768945998 |
177 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs749529517 CA1009526 |
177 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1009529 rs373787928 |
179 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1009531 rs773003438 |
180 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA1009533 rs765876798 |
181 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA1009532 rs760298300 |
181 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1009534 rs371779632 |
185 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341661632 rs1318988871 |
186 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 188 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1009535 rs759208673 |
191 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341661671 rs1570780638 |
192 | P>S | No |
ClinGen Ensembl |
|
|
CA341661675 rs757536290 |
193 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1009538 rs757536290 |
193 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199744267 CA1009559 |
196 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28944535 rs768468337 |
199 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs768468337 CA341661734 |
199 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA341661737 rs1481156620 |
200 | V>I | No |
ClinGen gnomAD |
|
|
rs766957320 CA1009560 |
201 | H>N | No |
ClinGen ExAC |
|
|
CA1009561 rs376355139 |
204 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1486580181 CA341661798 |
208 | G>V | No |
ClinGen TOPMed |
|
|
rs1480404698 CA341661802 |
209 | Y>C | No |
ClinGen gnomAD |
|
|
CA341661804 rs1480404698 |
209 | Y>S | No |
ClinGen gnomAD |
|
|
CA341661810 rs1570781420 |
210 | F>S | No |
ClinGen Ensembl |
|
|
rs1258143023 CA341661817 |
211 | P>S | No |
ClinGen TOPMed |
|
|
rs1171485346 CA341661832 |
213 | T>I | No |
ClinGen gnomAD |
|
|
CA28944555 rs549838098 |
214 | V>G | No |
ClinGen 1000Genomes |
|
|
rs1570781488 CA341661887 |
222 | G>A | No |
ClinGen Ensembl |
|
|
rs369273991 CA28944570 |
224 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1009562 rs369273991 |
224 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1297858657 CA341661913 |
227 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 229 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1009566 rs200470042 |
230 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341661949 rs1281467008 |
232 | F>C | No |
ClinGen gnomAD |
|
|
CA341661946 rs1356253726 |
232 | F>V | No |
ClinGen TOPMed |
|
|
rs116379281 CA28944597 |
233 | Y>H | No |
ClinGen 1000Genomes |
|
|
rs770891090 CA341661959 |
234 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1009568 rs770891090 |
234 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141479017 CA1009569 |
235 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1009570 rs201458678 |
236 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1009571 rs769180599 |
236 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs775001346 CA1009572 |
240 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs139270756 CA1009574 |
241 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341662007 rs1490325825 |
242 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1009577 rs767043168 |
243 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1009576 rs761090506 |
243 | H>Y | No |
ClinGen ExAC |
|
|
rs867436323 CA341662026 |
245 | P>H | No |
ClinGen gnomAD |
|
|
rs867436323 CA28944659 |
245 | P>L | No |
ClinGen gnomAD |
|
|
CA28944658 rs369968810 |
245 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs369968810 CA1009579 |
245 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341662028 rs1426788929 |
246 | L>M | No |
ClinGen gnomAD |
|
|
CA1009580 rs765244376 |
248 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1365104438 CA341662044 |
249 | Q>K | No |
ClinGen gnomAD |
|
|
CA341662069 rs1196182464 |
252 | P>L | No |
ClinGen TOPMed |
|
|
CA1009583 rs764346509 |
253 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752772081 CA1009582 |
253 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341662072 rs764346509 |
253 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752772081 CA1009581 |
253 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28944678 rs1030672648 |
254 | T>N | No |
ClinGen TOPMed |
|
|
rs751400244 CA1009584 |
255 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA1009588 rs147230995 |
258 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147230995 CA341662104 |
258 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147230995 CA1009587 |
258 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1009586 rs571867196 |
258 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1009594 rs768238276 |
260 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1009593 rs748795486 |
260 | R>W | No |
ClinGen ExAC TOPMed |
|
|
rs747439667 CA1009596 COSM3399540 |
263 | G>R | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1009597 rs771420158 |
265 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446661219 CA341662167 |
269 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA28944770 rs963236566 |
270 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1009599 rs759980674 |
270 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA341662203 rs1343306092 |
275 | E>* | No |
ClinGen gnomAD |
|
|
rs185161677 CA28944773 |
277 | P>L | No |
ClinGen 1000Genomes |
|
|
CA1009600 rs765732006 |
279 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1009601 rs775468592 |
279 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs374084556 CA1009629 |
280 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375968506 CA1009630 |
281 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA341662259 rs1175435250 |
282 | G>S | No |
ClinGen gnomAD |
|
|
rs752212749 CA1009632 |
283 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370221833 CA1009633 |
284 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1009634 rs777541279 |
286 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341662307 rs1304447929 |
289 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1009637 rs369709845 |
290 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs369709845 CA1009636 |
290 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764361211 CA1009638 |
290 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436318193 CA341662327 COSM3360226 |
292 | G>A | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1216720819 CA341662324 |
292 | G>R | No |
ClinGen gnomAD |
|
|
CA341662338 rs1271088668 |
294 | Y>C | No |
ClinGen gnomAD |
|
|
CA341662346 rs1223231397 |
295 | Y>S | No |
ClinGen gnomAD |
|
|
rs760457102 CA1009644 |
298 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs760457102 CA341662366 |
298 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA1009643 rs773474689 |
298 | P>S | No |
ClinGen ExAC |
|
|
rs148870988 CA1009645 |
299 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1009646 rs148870988 |
299 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA28946366 COSM893964 rs150955367 |
299 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
rs1165964889 CA341662372 |
300 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA1009648 rs765231445 |
304 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1436613760 CA341662406 |
305 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 306 | M>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 309 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201604439 CA1009651 |
309 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341662439 rs1368720989 |
310 | G>A | No |
ClinGen gnomAD |
|
|
rs1488078212 CA341662445 |
311 | T>K | No |
ClinGen TOPMed |
|
|
rs751228760 CA1009652 |
312 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 317 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 317 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341662502 rs1247062117 |
319 | E>D | No |
ClinGen gnomAD |
|
|
CA1009659 rs372753999 |
320 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341662504 rs1294010518 |
320 | I>V | No |
ClinGen gnomAD |
|
|
CA1009660 rs773101901 |
321 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1009661 rs773101901 |
321 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1009662 rs144607229 |
322 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776526998 CA1009663 |
322 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1470481130 CA341662551 |
326 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 328 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341662592 rs1339122907 |
332 | K>T | No |
ClinGen gnomAD |
|
|
CA1009683 rs377289045 |
334 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1238283513 CA341662615 |
335 | N>T | No |
ClinGen TOPMed |
|
|
CA28947503 rs4448516 |
341 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1332763 CA1009685 rs4448516 |
341 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1009686 rs769716115 |
347 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA341662723 rs1397205741 |
352 | E>K | No |
ClinGen Ensembl |
|
|
rs1261096027 CA341662732 |
353 | H>D | No |
ClinGen gnomAD |
|
|
rs373947278 CA1009688 |
353 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA341662755 rs989775366 |
356 | R>P | No |
ClinGen gnomAD |
|
|
rs989775366 CA28947551 |
356 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1009689 rs763896855 |
357 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1416746822 CA341662761 |
357 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 358 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341662787 rs1557764359 |
361 | E>A | No |
ClinGen Ensembl |
|
|
CA341662791 rs1411801604 |
361 | E>D | No |
ClinGen gnomAD |
|
|
rs773954803 CA1009690 |
361 | E>K | No |
ClinGen ExAC |
|
|
CA1009691 rs199993555 |
362 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750072129 CA1009693 |
363 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA28947577 rs912378086 |
365 | M>V | No |
ClinGen Ensembl |
|
|
CA28947595 rs942568758 |
367 | W>S | No |
ClinGen Ensembl |
|
|
rs753013674 CA1009696 |
369 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341662843 rs1389684474 |
370 | V>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 376 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA28947634 rs781254645 |
378 | T>M | No |
ClinGen Ensembl |
|
|
rs1227922208 CA341662907 |
380 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 382 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341663086 rs1557765803 |
382 | P>S | No |
ClinGen Ensembl |
|
|
rs943775212 CA28948897 |
383 | G>A | No |
ClinGen Ensembl |
|
|
CA341663117 rs1331368928 |
387 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA341663125 rs1426571447 |
388 | R>C | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs558568709 CA1009725 |
388 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs772001776 CA341663150 |
391 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772001776 CA1009726 |
391 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28948929 rs114362309 |
393 | R>Q | No |
ClinGen 1000Genomes |
|
|
rs772742073 CA1009727 |
393 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA341663261 rs1188458982 |
400 | L>R | No |
ClinGen TOPMed |
|
|
rs776259482 CA1009730 |
402 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1056198529 CA28948956 |
403 | S>L | No |
ClinGen TOPMed |
|
|
rs1570796041 CA341663332 |
406 | H>Y | No |
ClinGen Ensembl |
|
|
rs554628721 CA1009734 |
408 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768104788 CA1009735 |
410 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1009736 rs750581385 |
412 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1446673879 CA341663450 |
419 | K>M | No |
ClinGen gnomAD |
|
|
rs1446673879 CA341663449 |
419 | K>R | No |
ClinGen gnomAD |
|
|
CA1009739 rs143888387 |
424 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1009740 rs755174132 |
424 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA1009742 rs747937140 |
432 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 434 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1009767 rs775195870 |
436 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775195870 CA341663575 |
436 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748592404 CA1009768 |
436 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs773653752 CA1009770 |
438 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1278124080 CA341663606 |
441 | L>V | No |
ClinGen gnomAD |
|
|
rs776616491 CA1009773 |
444 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA341663644 rs1249783824 |
446 | N>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 446 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1570797455 CA341663655 |
448 | T>P | No |
ClinGen Ensembl |
|
|
rs1482674228 CA341663672 |
450 | N>T | No |
ClinGen gnomAD |
|
|
CA28949438 rs1026861232 |
451 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs566667009 CA1009775 |
451 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs566667009 CA1009774 |
451 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1271000315 CA341663691 |
453 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1009777 rs758553612 |
455 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1009778 COSM2119950 rs763895465 |
455 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 458 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751314294 CA1009779 |
459 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341663736 rs1369456396 |
461 | L>P | No |
ClinGen gnomAD |
|
|
CA341663734 rs747964776 |
461 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 464 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1304244406 CA341663761 |
465 | G>A | No |
ClinGen gnomAD |
|
|
CA1009783 COSM3688889 rs755646925 |
466 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA28949550 COSM1600561 rs144977139 |
466 | R>H | liver [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
CA341663775 rs1316264399 |
467 | W>C | No |
ClinGen TOPMed |
|
|
rs778316862 CA1009787 |
470 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341663788 rs1570797816 |
470 | W>G | No |
ClinGen Ensembl |
|
|
CA1009788 CA341663806 rs747349653 |
472 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28949570 rs950050968 |
472 | M>V | No |
ClinGen TOPMed |
|
|
rs771394471 CA1009789 |
473 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 477 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1009791 rs200051144 |
478 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1557766727 CA341663840 |
478 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1009793 rs373206941 |
479 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769927111 CA1009792 |
479 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA341663855 rs112768939 |
481 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs112768939 CA1009795 |
481 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA28949596 rs112768939 |
481 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1009796 rs751402225 |
482 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28949598 rs751402225 |
482 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341663876 rs1198168739 |
485 | P>S | No |
ClinGen TOPMed |
|
|
rs890897754 CA28949619 |
486 | S>* | No |
ClinGen TOPMed |
|
|
CA341663897 rs1164950465 |
487 | D>Y | No |
ClinGen gnomAD |
|
|
rs1404166050 CA341663913 |
488 | V>M | No |
ClinGen gnomAD |
|
|
CA341663929 rs1205189326 |
489 | K>R | No |
ClinGen TOPMed |
|
|
CA341664030 rs1557767021 |
494 | D>N | No |
ClinGen Ensembl |
|
|
CA341664047 rs775586121 |
495 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775586121 CA1009814 |
495 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1009813 rs770157691 |
495 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461482495 CA341664088 |
498 | E>D | No |
ClinGen gnomAD |
|
|
CA341664084 rs1267346869 |
498 | E>G | No |
ClinGen gnomAD |
|
|
rs768924193 CA1009816 |
500 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs761874986 CA1009818 |
501 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761874986 CA28949866 |
501 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774551277 CA1009817 |
501 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA28949876 rs971504487 |
502 | E>Q | No |
ClinGen TOPMed |
|
|
CA341664174 rs1570798819 |
505 | Q>* | No |
ClinGen Ensembl |
|
|
rs767358480 CA1009819 |
505 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs750138719 CA1009820 |
508 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760699545 CA1009821 |
511 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs377381143 CA1009823 |
512 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341664236 rs1570798927 |
514 | T>P | No |
ClinGen Ensembl |
|
|
CA1009825 rs778778772 |
515 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777118633 CA28949968 |
516 | R>C | No |
ClinGen gnomAD |
|
|
rs752407299 CA1009826 |
516 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757934734 CA1009827 |
518 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428720517 CA341664275 |
521 | I>V | No |
ClinGen TOPMed |
|
|
CA1009829 rs746184267 |
523 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA341664325 rs1253418058 |
529 | G>R | No |
ClinGen gnomAD |
|
|
CA1009831 rs780523864 |
533 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341664355 rs780523864 |
533 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341664972 rs764967134 |
550 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1009849 rs749810313 |
550 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1009852 rs748146686 |
554 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557767846 CA341665010 |
556 | S>F | No |
ClinGen Ensembl |
|
|
rs1459432795 CA341665018 |
557 | N>K | No |
ClinGen gnomAD |
|
|
rs1416814751 CA341665016 |
557 | N>S | No |
ClinGen gnomAD |
|
|
rs772390323 CA1009854 |
559 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs370148422 CA28950571 |
562 | L>I | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 565 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773296247 CA341665076 |
566 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs372683047 CA1009858 |
568 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1009856 rs140221891 |
568 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1570800883 CA341665094 |
570 | H>P | No |
ClinGen Ensembl |
|
|
rs765233250 CA1009860 |
570 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA28950615 rs374544225 |
570 | H>Y | No |
ClinGen ESP TOPMed |
|
|
CA1009861 rs775111931 |
573 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA1009862 rs199885350 |
575 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1488330238 CA341665133 |
576 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA341665132 rs1488330238 |
576 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs990746871 CA28950647 |
577 | R>G | No |
ClinGen Ensembl |
|
|
CA341665139 rs1209761297 |
577 | R>H | No |
ClinGen gnomAD |
|
|
rs763871620 CA1009863 |
578 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1009864 rs151323201 |
579 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1009865 rs756844277 |
580 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA341665158 rs1162548955 |
581 | P>S | No |
ClinGen gnomAD |
|
|
rs1457523501 CA341665165 |
582 | S>N | No |
ClinGen gnomAD |
|
|
CA1009868 rs746494871 |
583 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs946514563 CA28950696 |
586 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs188207425 CA1009869 |
586 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1226151941 CA341665196 |
587 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 589 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1009871 rs758407447 |
592 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341665262 rs1370678878 |
594 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA341665258 rs1276284842 |
594 | P>S | No |
ClinGen TOPMed |
|
|
CA341665269 rs1431137870 |
595 | C>Y | No |
ClinGen gnomAD |
|
|
rs1321440579 CA341665288 |
598 | W>G | No |
ClinGen TOPMed |
|
|
CA341665290 rs1321440579 |
598 | W>R | No |
ClinGen TOPMed |
|
|
rs1349189245 CA341665297 |
599 | D>N | No |
ClinGen gnomAD |
|
|
rs765842366 CA1009889 |
600 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369985985 CA341665324 |
602 | K>N | No |
ClinGen gnomAD |
|
|
rs1217741280 CA341665329 |
603 | G>A | No |
ClinGen gnomAD |
|
|
rs753151960 CA1009890 |
603 | G>W | No |
ClinGen ExAC TOPMed |
|
|
rs1279667342 CA341665332 |
604 | E>Q | No |
ClinGen gnomAD |
|
|
CA1009891 rs758886608 |
608 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA1009892 rs777742440 |
608 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371708913 CA1009897 |
609 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371708913 CA1009896 |
609 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1009899 rs144650909 |
612 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1465743811 CA341665387 |
612 | K>T | No |
ClinGen TOPMed |
|
|
CA1009901 rs773774889 |
615 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1009902 rs375776210 |
617 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375776210 CA1009903 |
617 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341665420 rs1314337422 |
617 | R>W | No |
ClinGen TOPMed |
|
|
CA1009904 rs772850250 |
618 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA341665423 rs772850250 |
618 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA28951669 rs762633832 |
620 | I>T | No |
ClinGen Ensembl |
|
|
rs1272567923 CA341665446 |
621 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA341665453 rs1365810275 |
623 | L>F | No |
ClinGen TOPMed |
|
|
CA341665470 rs1409955805 |
625 | T>N | No |
ClinGen gnomAD |
|
|
rs765537865 CA1009907 |
626 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 627 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341665477 rs1434807450 |
627 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA341665484 rs1570803766 |
628 | R>W | No |
ClinGen Ensembl |
|
|
rs753636534 CA1009934 |
629 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1009937 rs748100975 |
634 | F>L | No |
ClinGen ExAC gnomAD |
|
|
COSM230868 CA28951874 rs1016367515 |
635 | P>S | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA341665549 rs758287272 |
636 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758287272 CA1009938 |
636 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341665557 rs1294336052 |
637 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs750149774 CA28951881 |
637 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs777300998 CA1009939 |
639 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1009940 rs376937553 |
642 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770544212 CA1009941 |
644 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA341665607 rs1273300931 |
645 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1009944 rs769076201 |
650 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774806375 CA341665650 |
651 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1009945 rs774806375 |
651 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353367054 CA341665666 |
653 | P>T | No |
ClinGen TOPMed |
|
|
CA341665675 rs1484957957 |
654 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 654 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs942757989 CA28951940 |
655 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs762441456 CA1009946 |
659 | I>V | No |
ClinGen ExAC |
|
|
rs768106693 CA1009947 |
660 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs560631173 CA28952078 |
661 | G>A | No |
ClinGen gnomAD |
|
|
rs560631173 COSM2153487 CA341665730 |
661 | G>E | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA341665744 rs1332339307 |
663 | M>I | No |
ClinGen TOPMed |
|
|
CA28952093 rs916055620 |
664 | E>G | No |
ClinGen Ensembl |
|
|
CA341665784 rs1427809152 |
669 | G>V | No |
ClinGen gnomAD |
|
|
CA1009973 rs776528287 |
670 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1391127536 CA341665800 |
672 | G>R | No |
ClinGen gnomAD |
|
|
rs1388317621 CA341665809 |
673 | G>E | No |
ClinGen gnomAD |
|
|
CA341665814 rs1289970756 |
674 | Q>* | No |
ClinGen TOPMed |
|
|
CA1009974 rs759838405 |
676 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA341665825 rs759838405 |
676 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1228488726 CA341665840 |
678 | A>V | No |
ClinGen gnomAD |
|
|
CA341665841 rs1299249120 |
679 | G>R | No |
ClinGen gnomAD |
|
|
CA1009975 rs765419570 |
680 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1009976 rs370183923 |
681 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1009977 rs370183923 |
681 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766050330 CA341665860 |
682 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs766050330 CA1009979 |
682 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA28952133 rs1044753712 |
682 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1468261882 CA341665882 |
686 | P>S | No |
ClinGen gnomAD |
|
|
CA341665886 rs1185731342 |
687 | V>M | No |
ClinGen gnomAD |
|
|
CA1009980 rs757092829 |
689 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs780784924 CA341665916 |
692 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs780784924 CA1009981 |
692 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA341665915 rs1169594503 |
692 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1293386264 CA341665932 |
695 | K>Q | No |
ClinGen TOPMed |
|
|
CA341665945 rs1460349341 |
696 | H>L | No |
ClinGen TOPMed |
|
|
rs1459188754 CA341665951 |
697 | G>E | No |
ClinGen gnomAD |
|
|
rs1323722039 CA341665971 |
700 | Y>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA341665974 rs1393261338 |
701 | S>P | No |
ClinGen gnomAD |
|
|
rs375700340 CA341665980 |
702 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1425746621 CA341665984 |
703 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA28952227 rs765934294 |
705 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs755635865 CA1009983 |
705 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA28952230 rs936312971 |
707 | L>F | No |
ClinGen gnomAD |
|
|
CA341666006 rs936312971 |
707 | L>V | No |
ClinGen gnomAD |
|
|
rs373394269 CA1009986 |
708 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1009987 rs778199324 |
709 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs747373547 CA1009988 |
710 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1484899413 CA341666029 |
711 | S>T | No |
ClinGen gnomAD |
|
|
CA341666045 rs1256771628 |
713 | Y>F | No |
ClinGen gnomAD |
|
|
CA341666049 rs1425545378 |
714 | K>E | No |
ClinGen gnomAD |
|
|
rs771236863 CA1009989 |
714 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341666070 rs1457601383 |
717 | P>S | No |
ClinGen gnomAD |
|
|
CA1009992 rs527541634 |
718 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1009991 rs35168617 |
718 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 719 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1467082344 CA341666091 |
720 | Y>C | No |
ClinGen TOPMed |
|
|
rs1380518531 CA341666095 |
721 | D>Y | No |
ClinGen gnomAD |
|
|
rs763080177 CA341666107 |
722 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763080177 CA1009994 |
722 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292009049 CA341666109 |
723 | Q>* | No |
ClinGen gnomAD |
|
|
CA341666114 rs1355164484 |
723 | Q>H | No |
ClinGen gnomAD |
|
|
rs1161918173 CA341666125 |
725 | I>V | No |
ClinGen gnomAD |
|
|
rs1270173919 CA341666136 |
726 | T>I | No |
ClinGen gnomAD |
|
|
CA341666151 rs774195962 |
729 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs774195962 CA1009996 |
729 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA1009997 rs761629290 COSM1257883 |
730 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1009998 rs143986452 |
730 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341666171 rs1453745854 |
732 | Y>C | No |
ClinGen gnomAD |
|
|
CA28955446 rs371391531 |
735 | H>Y | No |
ClinGen ESP |
|
|
CA341666206 rs1170098716 |
736 | P>T | No |
ClinGen gnomAD |
|
|
CA1010028 rs749536144 |
738 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA28955468 rs955771576 |
741 | I>V | No |
ClinGen Ensembl |
|
|
CA341666258 rs1409683814 |
744 | Q>* | No |
ClinGen gnomAD |
|
|
rs149009106 COSM3747499 CA1010029 |
746 | Y>C | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA28955473 rs987182217 |
746 | Y>H | No |
ClinGen Ensembl |
|
|
rs778863602 CA1010030 |
748 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs748325491 CA1010031 |
750 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs773330410 CA1010033 |
753 | A>G | No |
ClinGen ExAC TOPMed |
|
|
CA341666354 rs1338740130 |
758 | V>A | No |
ClinGen gnomAD |
|
|
rs776369976 CA1010036 |
758 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs973077603 CA28955522 |
759 | D>G | No |
ClinGen Ensembl |
|
|
rs1274865640 CA341666358 |
759 | D>N | No |
ClinGen gnomAD |
|
|
CA28955524 CA1010038 rs780063037 |
761 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA341666375 rs1184419449 COSM893966 |
762 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1184419449 CA341666374 |
762 | R>G | No |
ClinGen gnomAD |
|
|
rs762575240 CA1010040 |
763 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1010042 rs767983345 |
765 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1010043 rs151095542 RCV000968448 |
765 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1010041 rs767983345 |
765 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 767 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs115341385 CA1010044 |
767 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1010046 rs755150534 |
768 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341666428 rs748152573 |
771 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs748152573 CA1010048 |
771 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs375102670 CA1010050 |
771 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA341666433 rs1368040478 |
772 | Q>* | No |
ClinGen TOPMed |
|
|
CA341666457 rs1421275242 |
773 | G>A | No |
ClinGen gnomAD |
|
|
CA1010082 rs777233250 |
776 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766846743 CA1010081 |
776 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1010085 rs373470360 |
781 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764472760 CA28956073 |
782 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs764472760 CA1010087 |
782 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs751671796 CA341666532 |
785 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1010088 rs751671796 |
785 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1254114452 CA341666549 |
787 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
COSM252617 rs576123899 CA28956078 |
787 | R>H | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA341666579 rs1331391234 |
791 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 792 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341666613 rs1570811503 |
796 | N>T | No |
ClinGen Ensembl |
|
|
rs1300681968 CA341666619 |
797 | P>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 798 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341666641 rs1346317619 |
800 | A>P | No |
ClinGen gnomAD |
|
|
CA341666652 rs1570811554 |
802 | T>P | No |
ClinGen Ensembl |
|
|
CA341666663 rs1570811590 |
803 | V>G | No |
ClinGen Ensembl |
|
|
rs1252439557 CA341666658 |
803 | V>L | No |
ClinGen gnomAD |
|
|
rs1194451257 CA341666704 |
810 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1570811632 CA341666711 |
811 | L>P | No |
ClinGen Ensembl |
|
|
CA341666715 rs1207608178 |
812 | A>T | No |
ClinGen gnomAD |
|
|
rs146641181 CA1010092 |
813 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1010093 rs146641181 |
813 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1570811693 CA341666724 |
814 | S>P | No |
ClinGen Ensembl |
|
|
CA28956132 rs774131643 |
817 | K>E | No |
ClinGen Ensembl |
|
|
rs749104311 CA341666748 |
817 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA341666767 rs768283807 |
820 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA1010095 rs768283807 |
820 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA341666770 rs1374726085 |
821 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs747624544 CA1010097 |
821 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771600297 CA1010098 |
823 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341666793 rs1557772441 |
825 | R>* | No |
ClinGen Ensembl |
|
|
rs776951802 CA1010099 |
826 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341666814 rs1454939512 |
828 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA1010101 rs376504097 |
829 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1010102 rs775913789 |
831 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1010103 rs370420551 |
832 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1010106 rs757365243 |
834 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1010105 rs751865425 |
834 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 836 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 839 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA28956547 rs867755838 |
841 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA341666906 rs867755838 |
841 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs116009972 COSM1169313 CA1010131 |
841 | R>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1291872039 CA341666927 |
844 | I>V | No |
ClinGen gnomAD |
|
|
rs758061672 CA1010132 |
849 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA341666982 rs1224497182 |
852 | R>* | No |
ClinGen gnomAD |
|
|
rs573626187 CA1010133 |
853 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341666988 rs1185214748 |
853 | G>R | No |
ClinGen TOPMed |
|
|
rs1259242884 CA341667024 |
858 | K>M | No |
ClinGen TOPMed |
|
| TCGA novel | 859 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 861 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557774105 CA341667084 |
865 | V>A | No |
ClinGen Ensembl |
|
|
CA1010160 rs367907892 |
865 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
| rs1557774126 | 867 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341667109 rs1173071155 |
869 | Q>K | No |
ClinGen gnomAD |
|
|
rs1476171944 COSM201440 CA341667140 |
873 | R>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA341667151 rs1352950580 |
874 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1010162 rs772354886 |
875 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA341667164 rs1192241680 |
877 | L>I | No |
ClinGen TOPMed |
|
|
CA1010163 rs773433668 |
878 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA28957784 rs371817602 |
881 | V>M | No |
ClinGen ESP |
|
| TCGA novel | 882 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1438807058 CA341667193 |
882 | R>G | No |
ClinGen gnomAD |
|
|
CA1010164 COSM3788437 rs747208248 |
882 | R>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1362643393 CA341667198 |
883 | S>G | No |
ClinGen gnomAD |
|
|
CA341667217 rs1210711063 |
885 | Q>R | No |
ClinGen TOPMed |
|
|
rs1216099915 CA341667226 |
886 | S>I | No |
ClinGen gnomAD |
|
|
rs770927906 CA1010165 |
888 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA341667246 rs1311602015 |
889 | Q>R | No |
ClinGen TOPMed |
|
|
CA1010167 rs759666453 |
891 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs114634769 CA341667255 |
891 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs114634769 CA1010166 |
891 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341667265 rs1276208450 |
892 | L>P | No |
ClinGen TOPMed |
|
|
rs1277842211 CA341667321 |
900 | K>N | No |
ClinGen TOPMed |
|
|
rs1432645012 CA341667328 |
901 | N>I | No |
ClinGen gnomAD |
|
|
rs1270936545 CA341667329 |
901 | N>K | No |
ClinGen gnomAD |
|
|
CA341667337 rs763811223 |
903 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs763811223 CA1010171 |
903 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs758823732 CA1010196 |
906 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341667374 rs758823732 |
906 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1010197 rs778398108 |
911 | R>W | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 912 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341667453 rs1422765637 |
919 | V>L | No |
ClinGen TOPMed |
|
|
rs1422765637 CA341667451 |
919 | V>M | No |
ClinGen TOPMed |
|
|
rs1314535992 CA341667469 |
921 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 921 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762760106 CA1010204 |
922 | P>* | No |
ClinGen ExAC |
|
|
rs768457349 CA1010206 |
923 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761658937 CA1010208 |
929 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1010209 rs772012793 |
931 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs377196406 CA1010236 |
934 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 938 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1371011348 CA341667621 |
942 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 944 | Y>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs996929478 CA28958418 |
945 | T>I | No |
ClinGen gnomAD |
|
|
CA1010240 rs766472100 |
949 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1010241 rs754110947 |
951 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1232762459 CA341667686 |
952 | K>Q | No |
ClinGen gnomAD |
|
|
rs114753027 CA28958454 COSM3849207 |
952 | K>T | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes |
|
rs1488009013 CA341667717 |
957 | Q>K | No |
ClinGen TOPMed |
|
|
CA28958455 rs911986294 |
958 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1257668068 CA341667758 |
963 | Q>K | No |
ClinGen gnomAD |
|
|
rs1195640235 CA341667807 |
970 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs748304296 CA1010244 |
971 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA1010268 rs781038670 |
975 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs970943093 CA28958655 |
976 | H>P | No |
ClinGen Ensembl |
|
|
rs1363067427 CA341667863 |
977 | S>N | No |
ClinGen gnomAD |
|
|
CA341667866 rs6679 |
977 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1010270 rs200652089 |
978 | H>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 979 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1356309549 CA341667885 |
980 | Y>D | No |
ClinGen gnomAD |
|
|
rs748758956 CA1010272 |
981 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775164567 CA1010271 |
981 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA341667900 rs1321125272 |
982 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1010274 rs759227126 |
983 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 983 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1010275 rs761247181 |
984 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201257888 CA1010278 COSM293835 |
985 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs777040893 CA1010277 |
985 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28958732 rs991613919 |
986 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1010280 rs752995933 |
987 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1465267472 CA341667932 |
988 | E>Q | No |
ClinGen TOPMed |
|
|
CA1010281 rs763074995 |
989 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1418461720 CA341667948 |
990 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1450636262 CA341667988 |
997 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA341668007 rs1392010820 |
999 | W>* | No |
ClinGen gnomAD |
|
|
CA341668016 rs1309311810 |
1000 | R>S | No |
ClinGen gnomAD |
|
|
rs781044244 CA1010285 |
1003 | L>F | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9HCE1
1 regional properties for Q9HCE1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Armadillo repeat-containing domain | 307 - 527 | IPR006911 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.4.13 | Acting on ATP; involved in cellular and subcellular movement |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasmic ribonucleoprotein granule | A ribonucleoprotein granule located in the cytoplasm. |
| cytoplasmic stress granule | A dense aggregation in the cytosol composed of proteins and RNAs that appear when the cell is under stress. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| 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. |
| P granule | A small cytoplasmic, non-membranous RNA/protein complex aggregate in the primordial germ cells of many higher eukaryotes. |
| P-body | A focus in the cytoplasm where mRNAs may become inactivated by decapping or some other mechanism. Protein and RNA localized to these foci are involved in mRNA degradation, nonsense-mediated mRNA decay (NMD), translational repression, and RNA-mediated gene silencing. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| 5'-3' RNA helicase activity | Unwinding of an RNA helix in the 5' to 3' direction, driven by ATP hydrolysis. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| 3'-UTR-mediated mRNA destabilization | An mRNA destabilization process in which one or more RNA-binding proteins associate with the 3'-untranslated region (UTR) of an mRNA. |
| defense response to virus | Reactions triggered in response to the presence of a virus that act to protect the cell or organism. |
| miRNA-mediated gene silencing | A post-transcriptional gene silencing pathway in which regulatory microRNAs (miRNAs) elicit silencing of specific target genes. miRNAs are endogenous 21-24 nucleotide small RNAs processed from stem-loop RNA precursors (pre-miRNAs). Once incorporated into a RNA-induced silencing complex (RISC), miRNAs can downregulate gene expression by either of two posttranscriptional mechanisms: endonucleolytic cleavage of the RNA (often mRNA) or mRNA translational repression, usually accompanied by poly-A tail shortening and subsequent degradation of the mRNA. miRNAs are present in all the animals and in plants, whereas siRNAs are present in lower animals and in plants. |
| miRNA-mediated gene silencing by mRNA destabilization | An RNA interference pathway in which microRNAs (miRNAs) direct the cleavage of target mRNAs. Once incorporated into a RNA-induced silencing complex (RISC), a miRNA base pairing with near-perfect complementarity to the target mRNA will typically direct targeted endonucleolytic cleavage of the mRNA. Many plant miRNAs downregulate gene expression through this mechanism. |
| negative regulation of transposition, RNA-mediated | Any process that decreases the frequency, rate or extent of RNA-mediated transposition. RNA-mediated transposition is a type of transpositional recombination which occurs via an RNA intermediate. |
| positive regulation of mRNA catabolic process | Any process that increases the rate, frequency, or extent of a mRNA catabolic process, the chemical reactions and pathways resulting in the breakdown of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. |
| post-transcriptional gene silencing by RNA | A posttranscriptional gene silencing pathway in which regulatory RNAs elicit silencing of specific target genes, either by mRNA destabilization or inhibition of translation. |
| regulation of neuron projection arborization | Any process that modulates the frequency, rate or extent of the process in which the anatomical structures of a neuron projection are generated and organized into branches. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5ZKD7 | MOV10 | Putative helicase MOV-10 | Gallus gallus (Chicken) | PR |
| O60306 | AQR | RNA helicase aquarius | Homo sapiens (Human) | PR |
| P23249 | Mov10 | Putative helicase MOV-10 | Mus musculus (Mouse) | PR |
| Q8GYD9 | SDE3 | Probable RNA helicase SDE3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPSKFSCRQL | REAGQCFESF | LVVRGLDMET | DRERLRTIYN | RDFKISFGTP | APGFSSMLYG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MKIANLAYVT | KTRVRFFRLD | RWADVRFPEK | RRMKLGSDIS | KHHKSLLAKI | FYDRAEYLHG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KHGVDVEVQG | PHEARDGQLL | IRLDLNRKEV | LTLRLRNGGT | QSVTLTHLFP | LCRTPQFAFY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NEDQELPCPL | GPGECYELHV | HCKTSFVGYF | PATVLWELLG | PGESGSEGAG | TFYIARFLAA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VAHSPLAAQL | KPMTPFKRTR | ITGNPVVTNR | IEEGERPDRA | KGYDLELSMA | LGTYYPPPRL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RQLLPMLLQG | TSIFTAPKEI | AEIKAQLETA | LKWRNYEVKL | RLLLHLEELQ | MEHDIRHYDL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ESVPMTWDPV | DQNPRLLTLE | VPGVTESRPS | VLRGDHLFAL | LSSETHQEDP | ITYKGFVHKV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ELDRVKLSFS | MSLLSRFVDG | LTFKVNFTFN | RQPLRVQHRA | LELTGRWLLW | PMLFPVAPRD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VPLLPSDVKL | KLYDRSLESN | PEQLQAMRHI | VTGTTRPAPY | IIFGPPGTGK | TVTLVEAIKQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VVKHLPKAHI | LACAPSNSGA | DLLCQRLRVH | LPSSIYRLLA | PSRDIRMVPE | DIKPCCNWDA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KKGEYVFPAK | KKLQEYRVLI | TTLITAGRLV | SAQFPIDHFT | HIFIDEAGHC | MEPESLVAIA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GLMEVKETGD | PGGQLVLAGD | PRQLGPVLRS | PLTQKHGLGY | SLLERLLTYN | SLYKKGPDGY |
| 730 | 740 | 750 | 760 | 770 | 780 |
| DPQFITKLLR | NYRSHPTILD | IPNQLYYEGE | LQACADVVDR | ERFCRWAGLP | RQGFPIIFHG |
| 790 | 800 | 810 | 820 | 830 | 840 |
| VMGKDEREGN | SPSFFNPEEA | ATVTSYLKLL | LAPSSKKGKA | RLSPRSVGVI | SPYRKQVEKI |
| 850 | 860 | 870 | 880 | 890 | 900 |
| RYCITKLDRE | LRGLDDIKDL | KVGSVEEFQG | QERSVILIST | VRSSQSFVQL | DLDFNLGFLK |
| 910 | 920 | 930 | 940 | 950 | 960 |
| NPKRFNVAVT | RAKALLIIVG | NPLLLGHDPD | WKVFLEFCKE | NGGYTGCPFP | AKLDLQQGQN |
| 970 | 980 | 990 | 1000 | ||
| LLQGLSKLSP | STSGPHSHDY | LPQEREGEGG | LSLQVEPEWR | NEL |