Q14566
PR
Gene name |
MCM6 |
Protein name |
DNA replication licensing factor MCM6 |
Names |
p105MCM |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4175 |
EC number |
3.6.4.12: 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
10 structures for Q14566
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2KLQ | NMR | - | A | 708-821 | PDB |
| 2LE8 | NMR | - | A | 708-821 | PDB |
| 6XTX | EM | 329 A | 6 | 1-821 | PDB |
| 6XTY | EM | 677 A | 6 | 1-821 | PDB |
| 7PFO | EM | 320 A | 6 | 1-821 | PDB |
| 7PLO | EM | 280 A | 6 | 1-821 | PDB |
| 7W1Y | EM | 259 A | 6/E | 1-821 | PDB |
| 7W68 | EM | 440 A | E | 1-821 | PDB |
| 8B9D | EM | 340 A | 6 | 1-821 | PDB |
| AF-Q14566-F1 | Predicted | AlphaFoldDB |
619 variants for Q14566
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA1889001 rs138808270 RCV000714680 |
468 | R>W | Nonpersistence of intestinal lactase [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs776037433 CA1888922 RCV000714734 |
552 | I>V | Nonpersistence of intestinal lactase [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001822870 RCV001261629 CA1888732 rs55660827 |
810 | Y>H | Lactase persistence [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs769922920 CA1889405 |
3 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA348604493 rs769922920 |
3 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA348604486 rs1411055513 |
4 | A>S | No |
ClinGen TOPMed |
|
|
CA348604480 rs1159523252 |
5 | A>E | No |
ClinGen TOPMed |
|
|
rs373740116 CA56620125 |
5 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1889402 rs754786359 |
6 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1889403 rs754786359 |
6 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 7 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1889401 rs750702190 |
7 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348604456 rs779145315 |
9 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs779145315 CA1889400 |
9 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1414034542 CA348604460 |
9 | P>T | No |
ClinGen gnomAD |
|
|
rs753887287 CA1889398 |
11 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1889397 rs200393473 |
12 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200393473 CA1889396 |
12 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs891300519 CA348604444 |
12 | G>R | No |
ClinGen gnomAD |
|
|
CA56620097 rs891300519 |
12 | G>S | No |
ClinGen gnomAD |
|
|
rs1483194687 CA348604430 |
14 | Q>P | No |
ClinGen gnomAD |
|
|
CA348604421 rs1184767359 |
15 | H>L | No |
ClinGen gnomAD |
|
|
CA1889394 rs767901663 |
15 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA348604408 rs1441410836 |
17 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA348604409 rs1441410836 |
17 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA56620077 rs924925153 COSM570236 |
18 | V>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA56620073 rs1029805572 |
19 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA348604397 rs1029805572 COSM1186014 |
19 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1267930393 CA348604395 |
20 | D>N | No |
ClinGen gnomAD |
|
|
rs1229479030 CA348604359 |
25 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs773891158 CA1889392 |
28 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 30 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770552977 CA1889391 |
30 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1336347501 CA348604306 |
32 | D>V | No |
ClinGen gnomAD |
|
|
rs1341194126 CA348604309 |
32 | D>Y | No |
ClinGen gnomAD |
|
|
VAR_014816 CA56620047 rs796879083 |
35 | E>V | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs769402048 CA1889388 |
36 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348604282 rs769402048 |
36 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452704261 CA348604229 |
38 | Q>E | No |
ClinGen gnomAD |
|
|
rs538983384 CA1889371 |
38 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA56618121 rs1009736928 |
39 | S>N | No |
ClinGen Ensembl |
|
|
CA1889369 rs150079280 |
40 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1889368 rs376399397 |
41 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1889366 rs775413016 |
44 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141075051 CA1889365 |
48 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1889363 rs777924501 |
49 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348604097 rs1455587430 |
50 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1889360 rs763275628 |
55 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA1889361 rs139460893 |
55 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755569944 CA1889359 |
56 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs751992613 CA1889358 |
58 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA348604006 rs1165095087 |
58 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA348603993 rs1558764553 |
59 | N>K | No |
ClinGen Ensembl |
|
| TCGA novel | 60 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348603982 rs550021704 |
61 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1190962067 CA348603970 |
62 | V>I | No |
ClinGen gnomAD |
|
|
rs758646175 CA1889356 |
63 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs758646175 CA56617982 |
63 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs970315370 CA56617977 |
64 | S>G | No |
ClinGen Ensembl |
|
|
COSM1527873 CA348603922 rs1558764542 |
66 | V>M | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA1889355 rs750109785 |
67 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373573044 CA1889353 |
69 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1477058297 CA348603875 |
70 | Q>P | No |
ClinGen TOPMed |
|
|
rs776345642 CA1889352 |
71 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369380418 CA348603846 |
72 | N>K | No |
ClinGen TOPMed |
|
|
rs1558764534 CA348603840 |
73 | Q>* | No |
ClinGen Ensembl |
|
|
CA56617939 rs201423668 |
76 | S>F | No |
ClinGen Ensembl |
|
|
rs567110296 CA1889350 |
79 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752176648 CA56617917 |
81 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 81 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348603746 rs752176648 |
81 | E>V | No |
ClinGen gnomAD |
|
|
CA1889348 rs771924466 |
84 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1889349 rs775251514 |
84 | Y>H | No |
ClinGen ExAC |
|
|
CA348603710 rs771924466 |
84 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776797839 CA1889325 |
85 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 86 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348603533 rs1255593627 |
87 | Y>C | No |
ClinGen gnomAD |
|
|
CA536400510 rs1462836086 |
89 | Y>* | No |
ClinGen gnomAD |
|
|
CA1889322 rs756125742 |
91 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs61750436 CA1889320 |
92 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61752701 CA1889321 |
92 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1889319 rs746364726 |
93 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs779470520 CA1889318 |
97 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs376597944 CA1889317 |
97 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375834809 CA1889315 |
98 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1889314 rs375834809 |
98 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348603444 rs1575368349 |
99 | K>R | No |
ClinGen Ensembl |
|
|
CA1889313 rs767037709 |
101 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1889312 rs767037709 |
101 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs566522057 CA1889310 |
101 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1889311 rs566522057 |
101 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1434786345 CA348603425 |
102 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA348603412 rs766197896 |
104 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342195996 CA348603410 |
104 | I>T | No |
ClinGen Ensembl |
|
|
rs766197896 CA1889309 |
104 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348603402 rs1291101798 |
105 | P>L | No |
ClinGen gnomAD |
|
|
rs762691120 CA1889308 |
107 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs553009731 CA1889306 |
108 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348603386 rs1431157013 |
108 | K>R | No |
ClinGen TOPMed |
|
|
CA1889305 CA348603377 rs760949511 |
109 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs149573817 CA1889304 |
113 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772169779 CA1889303 |
113 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA348603331 rs1575368299 |
116 | D>A | No |
ClinGen Ensembl |
|
|
rs1262210598 CA348603334 |
116 | D>N | No |
ClinGen gnomAD |
|
|
rs774949484 CA1889301 |
118 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA348603208 rs1407333908 |
123 | I>M | No |
ClinGen gnomAD |
|
|
CA56615062 rs201187605 |
123 | I>S | No |
ClinGen Ensembl |
|
|
rs767727857 CA1889286 |
123 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1348642360 COSM3425219 CA348603203 |
124 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs759630219 CA1889285 |
124 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1889284 rs775002412 |
126 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA348603157 rs1398903284 |
127 | T>I | No |
ClinGen gnomAD |
|
|
rs749796617 CA1889282 |
129 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773494816 CA56614960 |
130 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs770160411 CA1889280 |
130 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348603083 rs1249601475 |
133 | L>F | No |
ClinGen gnomAD |
|
|
rs780852550 CA1889278 |
134 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs754500820 CA1889277 |
135 | T>S | No |
ClinGen ExAC |
|
|
CA1889276 rs189085457 |
136 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201215953 COSM1193447 CA1889275 |
136 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201215953 CA348603052 |
136 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA56614902 rs1002471707 |
137 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA348603048 rs1002471707 |
137 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA56614856 rs924347913 |
143 | R>Q | No |
ClinGen gnomAD |
|
|
COSM570239 rs750353136 CA1889271 |
143 | R>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs764982636 CA1889270 |
144 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209449415 CA348602931 |
146 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1209449415 CA348602932 |
146 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs754390262 CA1889269 |
147 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348602909 rs1276470233 |
148 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs774059991 CA56614854 |
149 | P>S | No |
ClinGen Ensembl |
|
|
rs1575367591 CA348602878 |
150 | E>G | No |
ClinGen Ensembl |
|
|
CA1889267 rs767781045 |
154 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558762995 CA348602794 |
156 | F>C | No |
ClinGen Ensembl |
|
|
CA348602743 rs1575367575 |
159 | L>F | No |
ClinGen Ensembl |
|
|
CA1889262 rs773725869 |
160 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1889261 rs770073773 |
163 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1889260 rs762184559 |
163 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA1889259 rs776273991 |
164 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA1889257 rs746653861 |
165 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA348602650 rs779590790 |
166 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs779590790 CA1889256 |
166 | R>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 166 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1251540568 CA348602604 |
169 | E>V | No |
ClinGen TOPMed |
|
|
CA56614773 rs766931124 |
171 | Q>* | No |
ClinGen Ensembl |
|
|
CA348602561 rs1205967825 |
172 | F>I | No |
ClinGen gnomAD |
|
|
rs1201573644 CA348602550 COSM1527874 |
172 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs543035977 CA1889254 |
172 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1889253 rs778851994 |
173 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348602540 rs778851994 |
173 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348602488 rs1352882203 |
177 | P>T | No |
ClinGen gnomAD |
|
|
CA348602476 rs1282512288 |
178 | N>D | No |
ClinGen gnomAD |
|
|
CA1889252 rs757006962 |
179 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1889250 rs777694769 |
181 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1889249 rs755298247 COSM1691076 |
183 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1386206388 CA348602362 |
186 | A>P | No |
ClinGen gnomAD |
|
|
CA348602346 rs1317500100 |
187 | N>S | No |
ClinGen gnomAD |
|
|
CA348602323 rs1438525822 |
189 | R>G | No |
ClinGen gnomAD |
|
|
CA56614723 rs140329818 |
189 | R>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs140329818 CA348602319 |
189 | R>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs975639843 CA56614709 |
190 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs964636763 CA348602266 |
193 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1016975091 CA56614688 |
194 | D>G | No |
ClinGen Ensembl |
|
|
rs766594419 CA1889246 |
194 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1889245 rs763035598 |
195 | T>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 196 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1889243 rs372070118 |
196 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1889241 rs777041287 |
199 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1217057463 CA348602179 |
199 | R>I | No |
ClinGen gnomAD |
|
|
rs1365888556 CA348602108 |
204 | Q>R | No |
ClinGen TOPMed |
|
|
rs1407039367 CA348602092 |
205 | K>R | No |
ClinGen TOPMed |
|
|
CA1889224 rs201824504 |
207 | R>C | Variant assessed as Somatic; 4.751e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1889223 rs765220170 |
207 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757834916 CA1889222 |
208 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558762341 CA348601262 |
211 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 212 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1889220 COSM1691075 rs764476282 |
213 | A>T | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA1889219 rs760979288 |
215 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA348601197 rs1575366764 |
217 | R>* | No |
ClinGen Ensembl |
|
|
CA1889218 rs142109197 |
217 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA56613135 rs948529217 |
218 | G>V | No |
ClinGen TOPMed |
|
|
CA1889217 rs564808114 |
220 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1889216 rs144893830 |
222 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773959284 CA1889215 |
222 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs773959284 CA348601134 |
222 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144893830 CA348601142 |
222 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770313220 CA1889214 |
223 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA348601116 rs1353526294 |
224 | L>S | No |
ClinGen gnomAD |
|
|
rs749267454 CA1889213 |
224 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs140204379 CA1889212 |
226 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1889210 rs747888863 |
227 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348601078 rs747888863 |
227 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 228 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348601042 rs1481057213 |
230 | A>G | No |
ClinGen gnomAD |
|
|
rs1356179748 CA348601047 |
230 | A>S | No |
ClinGen TOPMed |
|
|
rs1277846957 CA348601004 |
234 | E>* | No |
ClinGen TOPMed |
|
|
rs1372874721 CA348601001 |
234 | E>G | No |
ClinGen TOPMed |
|
|
rs780849785 CA1889209 |
235 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs934571521 CA56613084 |
235 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs780849785 CA348600989 |
235 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA1889208 rs758707017 |
236 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs147531807 CA1889207 |
237 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371319655 CA348600928 |
240 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1575366707 CA348600934 |
240 | D>V | No |
ClinGen Ensembl |
|
|
rs757246339 CA1889205 |
243 | D>N | No |
ClinGen ExAC |
|
|
rs532934292 CA1889203 |
245 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754365764 CA1889204 |
245 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA1889201 rs139876145 |
247 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767749300 CA1889200 |
248 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs374456478 CA1889199 |
250 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1889198 rs374456478 |
250 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1889196 rs762490656 |
254 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs769922696 CA1889194 |
257 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs769922696 CA348600745 |
257 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs141941982 CA1889192 |
259 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA56612973 rs996154069 |
260 | P>Q | No |
ClinGen TOPMed |
|
|
CA1889173 rs776393944 |
261 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768520078 CA1889172 |
263 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348600637 rs1244751118 |
263 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs768520078 CA348600639 |
263 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348600616 rs1203250622 |
264 | A>V | No |
ClinGen gnomAD |
|
|
CA348600597 rs1485494706 |
266 | T>A | No |
ClinGen gnomAD |
|
|
rs199894424 CA1889170 |
268 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348600554 rs1313858994 |
269 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs145558494 CA1889169 |
269 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348600556 rs1313858994 |
269 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1575366528 CA348600530 |
271 | S>G | No |
ClinGen Ensembl |
|
|
rs777868882 CA1889166 |
273 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA1889165 rs769824091 |
274 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs781492547 CA1889163 |
275 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA1889162 rs755370513 |
276 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA348600460 rs1196808893 |
276 | Y>H | No |
ClinGen Ensembl |
|
|
CA1889161 rs751931611 |
280 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA348600372 rs1371614006 |
282 | R>G | No |
ClinGen gnomAD |
|
|
rs780556954 CA1889160 |
282 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200725312 CA1889159 |
284 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs138593296 CA1889158 |
285 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348600318 rs1188231757 |
286 | A>V | No |
ClinGen gnomAD |
|
|
rs764873784 CA1889157 |
288 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs920088721 CA56612731 |
289 | V>L | No |
ClinGen TOPMed |
|
|
CA348600274 rs1354223703 |
290 | R>K | No |
ClinGen TOPMed |
|
|
CA56612717 rs867494499 |
295 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1889155 rs753829836 |
296 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA348600197 rs1249329958 |
296 | L>V | No |
ClinGen gnomAD |
|
|
CA1889154 rs763872256 |
297 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA348600175 rs1298314217 |
298 | F>L | No |
ClinGen gnomAD |
|
|
rs760658240 CA1889153 |
298 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs775198058 CA1889152 |
299 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1889149 rs530937537 |
300 | A>G | No |
ClinGen Ensembl |
|
|
rs771823153 CA348600145 |
300 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1889151 rs771823153 |
300 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348600138 rs1406913022 |
301 | C>S | No |
ClinGen gnomAD |
|
|
rs1394561565 CA348600129 |
301 | C>S | No |
ClinGen gnomAD |
|
|
CA1889148 rs763192659 |
302 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1461254056 CA348600096 |
303 | V>A | No |
ClinGen gnomAD |
|
|
CA1889146 rs769873175 |
304 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150278316 CA1889145 |
304 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA56612633 rs759327590 |
305 | P>L | No |
ClinGen Ensembl |
|
|
rs187618645 CA1889143 |
305 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs182626176 CA1889142 |
306 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs182626176 CA348600063 |
306 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1889141 rs372422308 |
306 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1034227227 CA56612609 |
309 | R>K | No |
ClinGen Ensembl |
|
|
CA1889115 rs748938363 |
310 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348599345 rs777176942 |
311 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA1889114 rs777176942 |
311 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA348599347 rs1355582830 |
311 | G>W | No |
ClinGen TOPMed |
|
|
rs1416111840 CA348599313 |
313 | K>T | No |
ClinGen gnomAD |
|
|
CA348599299 rs1458240759 |
314 | E>A | No |
ClinGen gnomAD |
|
|
CA1889109 rs754903692 |
314 | E>Q | No |
ClinGen ExAC gnomAD |
|
| rs747148219 | 314 | E>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1889106 rs761983514 |
321 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs995163930 CA56611884 |
321 | T>I | No |
ClinGen TOPMed |
|
|
CA1889105 rs776877314 |
323 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA348599156 rs1445764109 |
324 | S>G | No |
ClinGen gnomAD |
|
|
CA1889103 rs760751391 |
324 | S>N | No |
ClinGen ExAC |
|
| TCGA novel | 325 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA56611870 rs1015426010 |
326 | K>* | No |
ClinGen Ensembl |
|
|
rs1452688224 CA348599097 |
327 | N>K | No |
ClinGen Ensembl |
|
|
rs1286018410 CA348599090 |
328 | Q>* | No |
ClinGen TOPMed |
|
|
CA56611866 rs1004170124 |
329 | M>V | No |
ClinGen Ensembl |
|
| rs1400310148 | 331 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348599020 rs1487280906 |
332 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 333 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 334 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348598986 rs1215757557 |
334 | W>C | No |
ClinGen TOPMed |
|
|
rs776145756 CA1889102 |
335 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486072464 CA348598922 |
338 | F>L | No |
ClinGen TOPMed |
|
|
CA1889101 rs772775461 COSM3836900 |
340 | M>I | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA348598882 rs1356012263 |
341 | S>N | No |
ClinGen gnomAD |
|
|
CA348598820 rs1189700537 |
345 | N>T | No |
ClinGen TOPMed |
|
|
CA348598807 rs1313135244 |
346 | L>V | No |
ClinGen gnomAD |
|
|
CA348598795 rs1575366014 |
347 | Y>S | No |
ClinGen Ensembl |
|
|
rs746366421 CA1889100 |
348 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs774896044 CA1889099 |
349 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771284738 CA1889098 |
351 | C>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 351 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1324586122 CA348598725 |
352 | T>P | No |
ClinGen gnomAD |
|
|
rs144937311 CA1889096 |
357 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1161214510 CA348598648 |
358 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA348598239 rs1406840004 |
360 | G>D | No |
ClinGen TOPMed |
|
|
CA348598235 rs1490548198 |
361 | N>D | No |
ClinGen gnomAD |
|
|
CA1889073 rs141448886 |
361 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 362 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348598215 rs1323024902 |
363 | E>D | No |
ClinGen TOPMed |
|
|
CA348598217 rs1435797418 |
363 | E>V | No |
ClinGen gnomAD |
|
|
rs746976033 CA348598213 |
364 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs746976033 CA1889071 |
364 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 365 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348598205 rs1319909322 |
365 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs750299708 CA1889068 |
366 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1889069 rs758133073 |
366 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs774098424 CA56610173 |
367 | G>V | No |
ClinGen Ensembl |
|
|
CA1889067 rs778561165 |
370 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA348598166 rs1314860120 |
372 | L>F | No |
ClinGen gnomAD |
|
|
rs756454837 CA1889066 |
372 | L>R | No |
ClinGen ExAC |
|
|
rs752926256 CA1889065 |
374 | G>D | No |
ClinGen ExAC |
|
|
rs929097496 CA56610154 |
375 | G>S | No |
ClinGen Ensembl |
|
|
rs759630336 CA56610146 |
376 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759630336 COSM204646 CA1889063 |
376 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA56610141 rs554577041 |
378 | K>E | No |
ClinGen 1000Genomes |
|
|
CA1889062 rs548418033 |
379 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1889061 rs766972366 |
379 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA348598112 rs1195780415 |
382 | E>K | No |
ClinGen TOPMed |
|
|
CA348598101 rs1176364984 |
383 | G>E | No |
ClinGen gnomAD |
|
|
rs368811703 CA1889059 |
384 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1490717758 CA348598080 |
387 | R>* | No |
ClinGen TOPMed |
|
|
CA1889057 rs761487699 |
389 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1889058 rs765552914 |
389 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1558760732 CA348598054 |
391 | N>T | No |
ClinGen Ensembl |
|
|
rs1199011126 CA348598048 |
392 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1199011126 CA348598049 |
392 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA348598032 rs1261128799 |
394 | I>T | No |
ClinGen gnomAD |
|
|
CA1889056 COSM1186013 rs776218993 |
394 | I>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA348598007 rs1312200601 |
398 | P>S | No |
ClinGen gnomAD |
|
|
rs1221639567 CA348597963 |
404 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 407 | K>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348597373 rs765614539 CA1889039 |
409 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348597375 rs765614539 |
409 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776274159 CA1889037 |
411 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs763803471 CA348597315 |
412 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218907197 CA348597286 |
414 | P>R | No |
ClinGen gnomAD |
|
|
CA1889034 rs775116135 |
416 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293688491 CA348597249 |
418 | Y>C | No |
ClinGen TOPMed |
|
|
CA348597242 rs1222734508 |
419 | T>S | No |
ClinGen TOPMed |
|
|
CA348597214 rs771453730 |
423 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA1889033 COSM1006896 rs771453730 |
423 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1889031 rs774371187 |
427 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1889029 rs749161928 |
433 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA56607508 rs113753889 |
438 | E>G | No |
ClinGen Ensembl |
|
|
rs747165308 CA1889026 |
442 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 443 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 443 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376760086 CA56607497 |
444 | I>M | No |
ClinGen ESP TOPMed |
|
|
CA1889025 rs780210863 |
444 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA348597068 rs1291462092 |
445 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA348597075 rs1245959167 |
445 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA348597052 rs1323905195 |
448 | A>G | No |
ClinGen gnomAD |
|
|
CA1889024 rs375104649 |
449 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA348597041 rs1450786387 |
450 | M>L | No |
ClinGen TOPMed |
|
|
rs905342027 CA56607485 |
452 | A>T | No |
ClinGen Ensembl |
|
|
rs1184466614 CA348597013 |
454 | N>D | No |
ClinGen TOPMed |
|
|
rs750956453 CA1889023 |
454 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1889007 rs772202076 |
455 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA1889006 rs191517067 |
456 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 457 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1889004 rs757811066 |
460 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1889003 rs199696245 |
463 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA1889002 rs778143791 |
465 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA56606636 rs1016677087 |
467 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1889000 rs752397931 |
468 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1888999 rs377587920 |
470 | Q>R | No |
ClinGen ESP ExAC TOPMed |
|
|
CA348596881 rs1284635183 |
471 | V>A | No |
ClinGen TOPMed |
|
|
CA56606613 rs1056076182 |
472 | A>G | No |
ClinGen TOPMed |
|
|
rs1434534322 CA348596878 |
472 | A>T | No |
ClinGen gnomAD |
|
|
rs1195564902 CA348596851 |
476 | A>T | No |
ClinGen gnomAD |
|
|
rs1458507728 CA348596846 |
476 | A>V | No |
ClinGen gnomAD |
|
|
CA56606589 rs1000228668 |
477 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1558758898 CA348596824 |
479 | Q>L | No |
ClinGen Ensembl |
|
|
CA348596804 rs1295425884 |
482 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1888996 rs201501566 |
482 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348596784 rs1275497559 |
485 | T>S | No |
ClinGen gnomAD |
|
|
rs1235596684 CA348596761 |
489 | V>L | No |
ClinGen gnomAD |
|
|
rs763013351 CA1888995 |
490 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs765158531 CA1888973 |
491 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs969990635 CA56606045 |
492 | T>S | No |
ClinGen Ensembl |
|
|
CA348595418 rs761800905 |
493 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761800905 CA56606044 |
493 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759786957 CA1888970 |
495 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3708911 rs759786957 CA1888969 |
495 | A>T | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs771001341 CA1888967 |
496 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348595376 rs202222981 |
496 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA348595364 rs1162022549 |
497 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1355429774 CA348595359 |
497 | T>M | No |
ClinGen TOPMed |
|
|
rs1285128191 CA348595327 |
499 | I>L | No |
ClinGen TOPMed |
|
|
rs1485869856 CA348595281 |
501 | A>T | No |
ClinGen TOPMed |
|
|
CA1888965 rs773327557 |
501 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1212214569 CA348595263 |
502 | A>V | No |
ClinGen TOPMed |
|
|
rs141351106 CA1888964 |
506 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373441782 CA1888963 |
507 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1441847802 CA348595115 |
510 | Y>C | No |
ClinGen TOPMed |
|
|
rs1435689399 CA348595037 |
515 | S>P | No |
ClinGen TOPMed |
|
|
CA348595022 rs1336509623 |
516 | L>S | No |
ClinGen TOPMed |
|
|
rs779788267 CA1888959 |
517 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA56605937 rs1032174395 |
517 | K>R | No |
ClinGen TOPMed |
|
|
CA348594941 rs1447875062 |
520 | I>M | No |
ClinGen TOPMed |
|
|
rs1298260170 CA348594934 |
521 | N>Y | No |
ClinGen TOPMed |
|
|
rs749963459 CA1888957 |
527 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA56605898 rs1006012077 |
528 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1888956 rs764786500 |
529 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA348594766 rs1484205254 |
533 | F>I | No |
ClinGen gnomAD |
|
|
CA1888954 rs753769595 |
537 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1220769966 CA348594689 |
540 | C>R | No |
ClinGen TOPMed |
|
|
CA348594687 rs1400122974 |
540 | C>Y | No |
ClinGen gnomAD |
|
|
CA1888953 rs763819330 |
541 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190740146 CA348593375 |
543 | V>I | No |
ClinGen gnomAD |
|
|
rs971258274 CA56603265 |
544 | T>A | No |
ClinGen TOPMed |
|
|
CA348593336 rs1478476120 |
545 | D>H | No |
ClinGen gnomAD |
|
|
CA1888926 rs145047233 |
547 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 550 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1888924 rs564036914 |
551 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1129560 rs200697022 CA1888923 |
551 | R>H | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA56603219 rs564036914 |
551 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750824384 CA56603169 |
554 | D>E | No |
ClinGen TOPMed |
|
|
CA56603149 rs991458400 |
555 | L>F | No |
ClinGen TOPMed |
|
|
rs745532746 CA1888920 |
555 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149081066 CA56603140 |
556 | H>Y | No |
ClinGen ESP |
|
|
rs778573811 CA1888919 |
557 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1179477512 CA348593046 |
558 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1888917 rs748885162 |
561 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1888916 rs756081356 |
563 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1888914 rs372343766 |
563 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756081356 CA1888915 |
563 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780987706 CA1888913 |
564 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA56603066 rs1000894362 |
565 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA348592896 rs1404586959 |
565 | R>H | No |
ClinGen gnomAD |
|
|
rs1175448106 CA348592857 |
567 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1888912 rs754743876 |
569 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1888910 rs765559970 |
570 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761930043 CA1888909 |
571 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs147773023 CA1888907 |
572 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761299275 CA1888906 |
572 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348592707 rs761299275 |
572 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563728454 CA348592615 |
575 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1888903 rs368241752 |
577 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1237541218 CA348592555 |
577 | L>P | No |
ClinGen gnomAD |
|
|
rs1219071959 CA348592479 |
581 | Q>* | No |
ClinGen TOPMed |
|
|
rs891326475 CA56602995 |
581 | Q>H | No |
ClinGen TOPMed |
|
|
rs774564396 CA1888902 |
583 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA56602228 rs939008502 |
588 | K>R | No |
ClinGen TOPMed |
|
|
CA348592240 rs1213878954 |
589 | E>D | No |
ClinGen gnomAD |
|
|
rs757540721 CA1888892 |
592 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1440544215 CA348592222 |
592 | D>Y | No |
ClinGen TOPMed |
|
|
CA1888891 rs754073264 |
594 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA348592177 rs1320299201 |
598 | Y>C | No |
ClinGen gnomAD |
|
|
rs764296916 CA56602208 |
599 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1888890 rs764296916 |
599 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs756704164 CA56602200 |
600 | H>Y | No |
ClinGen Ensembl |
|
|
rs1229415513 CA348592159 |
601 | L>I | No |
ClinGen gnomAD |
|
|
CA348592145 rs1382025394 |
602 | R>C | No |
ClinGen gnomAD |
|
|
rs184578188 CA56602198 |
602 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA1888889 rs756209319 |
603 | Q>H | No |
ClinGen ExAC TOPMed |
|
|
CA56602182 rs980531798 |
605 | D>E | No |
ClinGen Ensembl |
|
|
rs374533979 CA1888888 |
605 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs768139759 CA1888887 |
606 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA348592074 rs868830953 |
607 | S>C | No |
ClinGen gnomAD |
|
|
CA56602179 rs868830953 |
607 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 607 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA56602170 rs111926957 |
610 | T>A | No |
ClinGen Ensembl |
|
|
CA1888886 rs759935852 |
610 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1888885 rs774815658 |
611 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs193011727 CA1888884 |
611 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1424297403 CA348592043 |
612 | S>C | No |
ClinGen gnomAD |
|
|
rs1322001630 CA348592010 |
615 | R>T | No |
ClinGen TOPMed |
|
|
CA56602131 rs945901290 COSM1399588 |
619 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA348591838 rs1487684276 |
626 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1263370801 CA348591814 |
627 | L>F | No |
ClinGen gnomAD |
|
|
rs1487681495 CA348591716 |
631 | M>V | No |
ClinGen gnomAD |
|
|
rs1258239997 CA348591689 |
632 | A>T | No |
ClinGen gnomAD |
|
|
CA56602098 rs1049632079 |
633 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA348591657 rs1049632079 |
633 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs267598892 CA56602111 |
633 | R>W | No |
ClinGen gnomAD |
|
|
CA348591647 rs1575360071 |
634 | M>V | No |
ClinGen Ensembl |
|
|
rs890338396 CA56602090 |
637 | C>W | No |
ClinGen TOPMed |
|
|
rs1276923332 CA348591509 |
638 | D>E | No |
ClinGen gnomAD |
|
|
rs1302265087 CA348611533 |
640 | V>I | No |
ClinGen gnomAD |
|
|
rs1387070821 CA348611525 |
641 | Q>* | No |
ClinGen gnomAD |
|
|
CA1888870 rs540291814 |
641 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752871057 CA1888869 |
642 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA348611518 rs1329164092 |
642 | P>S | No |
ClinGen gnomAD |
|
|
CA348611504 rs1400989373 |
644 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1257386325 CA348611505 |
644 | H>Y | No |
ClinGen TOPMed |
|
|
CA1888868 rs767461208 |
645 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA56651018 rs55828049 |
647 | E>V | No |
ClinGen Ensembl |
|
|
CA56651010 rs967390814 |
650 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA56651011 rs777230979 |
650 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs751957921 CA1888865 |
652 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs766779990 CA1888864 |
655 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA1888863 rs373818867 |
656 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1888860 rs761434172 |
657 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs141107254 CA1888861 |
657 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs142938887 CA1888859 |
658 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs768011780 CA1888858 |
658 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746989205 CA1888857 |
660 | E>K | No |
ClinGen ExAC |
|
|
CA1888854 rs745727867 |
663 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs772000605 CA1888855 |
663 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1888853 rs780718292 |
665 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348611371 rs1400904375 |
666 | L>I | No |
ClinGen gnomAD |
|
|
CA348611331 rs1347616935 |
671 | E>A | No |
ClinGen TOPMed |
|
|
rs1018741030 CA56650871 |
674 | M>V | No |
ClinGen gnomAD |
|
|
CA1888851 COSM341260 rs756785273 |
677 | D>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1888850 rs146729759 |
679 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1888846 rs758891891 |
681 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs376497941 CA1888847 |
681 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1888848 rs376497941 |
681 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1048954573 CA56650841 |
682 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA56650831 rs1048954573 |
682 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1888845 rs539633697 |
684 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA56649446 rs188294979 |
686 | H>L | No |
ClinGen 1000Genomes gnomAD |
|
|
rs188294979 CA56649413 |
686 | H>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1262661058 CA348611216 |
687 | A>G | No |
ClinGen gnomAD |
|
|
CA348611217 rs146829469 |
687 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1888828 rs146829469 |
687 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348611207 rs1447310299 |
688 | D>E | No |
ClinGen gnomAD |
|
|
rs140051424 CA1888827 |
688 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs534955896 CA56649365 |
689 | S>G | No |
ClinGen gnomAD |
|
|
CA1888826 rs750892370 |
689 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1008376976 CA56649353 |
690 | P>L | No |
ClinGen Ensembl |
|
|
rs1355542946 CA348611184 |
692 | P>L | No |
ClinGen gnomAD |
|
|
rs1021636325 CA56649344 |
694 | N>Y | No |
ClinGen TOPMed |
|
|
COSM1195896 CA1888823 rs372891652 |
695 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA1888822 rs763724793 |
696 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1888821 rs560524153 |
697 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242558834 CA348611143 |
699 | Y>C | No |
ClinGen TOPMed |
|
|
rs1007877179 CA56649301 |
699 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs147511020 CA1888820 |
700 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1405199094 CA348611111 |
703 | I>R | No |
ClinGen gnomAD |
|
|
CA1888818 rs759566557 |
706 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs774368870 CA1888817 |
707 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770849857 CA1888816 |
707 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA56649271 rs890836047 |
709 | P>A | No |
ClinGen TOPMed |
|
|
rs1177834465 CA348611067 |
710 | K>R | No |
ClinGen TOPMed |
|
|
rs1575357921 CA348611058 |
711 | A>V | No |
ClinGen Ensembl |
|
|
CA56649270 rs996155419 |
712 | S>F | No |
ClinGen gnomAD |
|
|
rs768806955 CA1888813 |
717 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1049500876 CA56649248 |
717 | F>V | No |
ClinGen TOPMed |
|
|
CA56649236 rs898714667 |
721 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA348610991 rs1215512211 |
722 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA56649234 COSM1214727 rs530856427 |
722 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes TOPMed gnomAD |
|
rs747222067 CA1888812 |
723 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775579883 CA1888811 |
726 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA348610942 rs1272729322 |
730 | H>Y | No |
ClinGen gnomAD |
|
|
rs200993395 CA348610928 |
732 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs200993395 CA56649215 |
732 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1264984490 CA348610923 |
733 | K>E | No |
ClinGen TOPMed |
|
|
CA348610920 rs1332071023 |
733 | K>R | No |
ClinGen gnomAD |
|
|
CA1888809 rs746388072 |
734 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA1888810 rs149553347 |
734 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1400260109 CA348610904 |
736 | E>K | No |
ClinGen gnomAD |
|
|
CA1888787 rs150582728 |
739 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377298657 COSM441170 CA1888785 |
740 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs749775011 CA1888784 |
746 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs570529859 CA1888782 |
746 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1888781 rs372387401 |
747 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3425218 CA1888779 rs754663697 |
750 | N>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1282043740 CA348610757 |
754 | K>N | No |
ClinGen gnomAD |
|
|
rs751164255 CA1888778 |
755 | E>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 759 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758298294 CA1888776 |
761 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1174420535 CA348610675 |
766 | L>V | No |
ClinGen TOPMed |
|
|
rs1415535929 CA348610669 |
767 | I>L | No |
ClinGen gnomAD |
|
|
rs750328191 CA1888775 |
767 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA348610662 rs1296588308 |
768 | N>D | No |
ClinGen gnomAD |
|
|
rs764957711 CA1888774 COSM1494599 |
768 | N>K | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1423071891 CA348610655 |
769 | K>E | No |
ClinGen TOPMed |
|
|
CA348610640 rs1159619923 |
771 | R>G | No |
ClinGen gnomAD |
|
|
CA1888771 rs368294087 |
771 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 772 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1888770 rs576403217 |
773 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1888769 rs202173137 |
774 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774457801 CA1888768 |
776 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 777 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs928107134 CA56647761 |
778 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1332206140 CA348610592 |
778 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs770990427 CA1888767 |
779 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773697530 CA348610582 |
780 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773697530 CA1888765 |
780 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770194362 CA1888764 |
782 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748580269 CA1888763 |
783 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396687825 CA348610546 |
784 | D>N | No |
ClinGen gnomAD |
|
|
CA348610534 rs1461057644 |
785 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA348610536 rs1167903540 |
785 | H>Y | No |
ClinGen gnomAD |
|
|
CA348610523 rs1487391398 |
787 | L>V | No |
ClinGen TOPMed |
|
|
CA348610515 rs1208950863 |
788 | I>T | No |
ClinGen TOPMed |
|
|
rs1373219888 CA348610505 |
789 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA348610503 rs1172126134 |
790 | L>V | No |
ClinGen gnomAD |
|
|
rs769091551 CA1888743 |
791 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA56644850 rs1046491015 |
791 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs746673349 CA1888742 |
793 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1888741 rs376251365 |
793 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1198022144 CA348610460 |
797 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 798 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1888738 rs138809319 |
800 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs537826900 CA1888739 |
800 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348610427 rs757228396 |
802 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1888737 rs757228396 |
802 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348610413 rs1165904558 |
804 | S>N | No |
ClinGen TOPMed |
|
|
CA1888736 rs148613967 |
805 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_016340 CA1888735 rs4988283 |
806 | E>K | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1888734 rs755836471 |
808 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs752428110 CA1888733 |
809 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA1888730 rs750554384 |
815 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA1888731 rs1804609 |
815 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1804609 CA56644779 |
815 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA348610333 rs1394168262 |
816 | N>S | No |
ClinGen gnomAD |
|
|
rs1455864588 CA348610314 |
819 | L>I | No |
ClinGen gnomAD |
|
|
CA348610305 rs1222025185 |
820 | E>G | No |
ClinGen gnomAD |
|
|
CA1888727 rs200231978 |
820 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA348610307 rs200231978 |
820 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q14566
6 regional properties for Q14566
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | MCM domain | 334 - 556 | IPR001208 |
| conserved_site | Mini-chromosome maintenance, conserved site | 455 - 463 | IPR018525 |
| domain | MCM N-terminal domain | 27 - 115 | IPR027925 |
| domain | MCM OB domain | 122 - 251 | IPR033762 |
| domain | Mcm6, C-terminal winged-helix domain | 712 - 817 | IPR041024 |
| domain | MCM, AAA-lid domain | 571 - 656 | IPR041562 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.4.12 | 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 | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromosome, telomeric region | The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). |
| CMG complex | A protein complex that contains the GINS complex, Cdc45p, and the heterohexameric MCM complex, and that is involved in unwinding DNA during replication. |
| MCM complex | A hexameric protein complex required for the initiation and regulation of DNA replication. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
| DNA helicase activity | Unwinding of a DNA helix, driven by ATP hydrolysis. |
| identical protein binding | Binding to an identical protein or proteins. |
| single-stranded DNA binding | Binding to single-stranded DNA. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| DNA replication | The cellular metabolic process in which a cell duplicates one or more molecules of DNA. DNA replication begins when specific sequences, known as origins of replication, are recognized and bound by initiation proteins, and ends when the original DNA molecule has been completely duplicated and the copies topologically separated. The unit of replication usually corresponds to the genome of the cell, an organelle, or a virus. The template for replication can either be an existing DNA molecule or RNA. |
| DNA replication initiation | The process in which DNA-dependent DNA replication is started; this begins with the ATP dependent loading of an initiator complex onto the DNA, this is followed by DNA melting and helicase activity. In bacteria, the gene products that enable the helicase activity are loaded after the initial melting and in archaea and eukaryotes, the gene products that enable the helicase activity are inactive when they are loaded and subsequently activate. |
| DNA unwinding involved in DNA replication | The process in which interchain hydrogen bonds between two strands of DNA are broken or 'melted', generating unpaired template strands for DNA replication. |
| double-strand break repair via break-induced replication | The error-free repair of a double-strand break in DNA in which the centromere-proximal end of a broken chromosome searches for a homologous region in an intact chromosome. DNA synthesis initiates from the 3' end of the invading DNA strand, using the intact chromosome as the template, and progresses to the end of the chromosome. |
| mitotic DNA replication | Any nuclear DNA replication that is involved in a mitotic cell cycle. |
| regulation of DNA-templated DNA replication initiation | Any process that modulates the frequency, rate or extent of initiation of DNA-dependent DNA replication; the process in which DNA becomes competent to replicate. In eukaryotes, replication competence is established in early G1 and lost during the ensuing S phase. |
11 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q2KIZ8 | MCM6 | DNA replication licensing factor MCM6 | Bos taurus (Bovine) | PR |
| Q9V461 | Mcm6 | DNA replication licensing factor Mcm6 | Drosophila melanogaster (Fruit fly) | PR |
| P49736 | MCM2 | DNA replication licensing factor MCM2 | Homo sapiens (Human) | PR |
| P33993 | MCM7 | DNA replication licensing factor MCM7 | Homo sapiens (Human) | PR |
| P97311 | Mcm6 | DNA replication licensing factor MCM6 | Mus musculus (Mouse) | PR |
| Q62724 | Mcm6 | DNA replication licensing factor MCM6 | Rattus norvegicus (Rat) | PR |
| Q6F353 | Os05g0235800 | DNA replication licensing factor MCM6 | Oryza sativa subsp japonica (Rice) | PR |
| P34647 | mcm-6 | DNA replication licensing factor mcm-6 | Caenorhabditis elegans | PR |
| Q9SF37 | MCM8 | Probable DNA helicase MCM8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q28CM3 | mmcm6 | Maternal DNA replication licensing factor mcm6 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q6P1V8 | zmcm6 | Zygotic DNA replication licensing factor mcm6 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDLAAAAEPG | AGSQHLEVRD | EVAEKCQKLF | LDFLEEFQSS | DGEIKYLQLA | EELIRPERNT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LVVSFVDLEQ | FNQQLSTTIQ | EEFYRVYPYL | CRALKTFVKD | RKEIPLAKDF | YVAFQDLPTR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HKIRELTSSR | IGLLTRISGQ | VVRTHPVHPE | LVSGTFLCLD | CQTVIRDVEQ | QFKYTQPNIC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RNPVCANRRR | FLLDTNKSRF | VDFQKVRIQE | TQAELPRGSI | PRSLEVILRA | EAVESAQAGD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KCDFTGTLIV | VPDVSKLSTP | GARAETNSRV | SGVDGYETEG | IRGLRALGVR | DLSYRLVFLA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| CCVAPTNPRF | GGKELRDEEQ | TAESIKNQMT | VKEWEKVFEM | SQDKNLYHNL | CTSLFPTIHG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NDEVKRGVLL | MLFGGVPKTT | GEGTSLRGDI | NVCIVGDPST | AKSQFLKHVE | EFSPRAVYTS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GKASSAAGLT | AAVVRDEESH | EFVIEAGALM | LADNGVCCID | EFDKMDVRDQ | VAIHEAMEQQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TISITKAGVK | ATLNARTSIL | AAANPISGHY | DRSKSLKQNI | NLSAPIMSRF | DLFFILVDEC |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NEVTDYAIAR | RIVDLHSRIE | ESIDRVYSLD | DIRRYLLFAR | QFKPKISKES | EDFIVEQYKH |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LRQRDGSGVT | KSSWRITVRQ | LESMIRLSEA | MARMHCCDEV | QPKHVKEAFR | LLNKSIIRVE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| TPDVNLDQEE | EIQMEVDEGA | GGINGHADSP | APVNGINGYN | EDINQESAPK | ASLRLGFSEY |
| 730 | 740 | 750 | 760 | 770 | 780 |
| CRISNLIVLH | LRKVEEEEDE | SALKRSELVN | WYLKEIESEI | DSEEELINKK | RIIEKVIHRL |
| 790 | 800 | 810 | 820 | ||
| THYDHVLIEL | TQAGLKGSTE | GSESYEEDPY | LVVNPNYLLE | D |