Q9UKF2
PR
Gene name |
ADAM30 (UNQ2509/PRO5997) |
Protein name |
Disintegrin and metalloproteinase domain-containing protein 30 |
Names |
ADAM 30 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:11085 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9UKF2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UKF2-F1 | Predicted | AlphaFoldDB |
679 variants for Q9UKF2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs766323681 CA1039258 |
2 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 5 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 5 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1039257 rs762860832 |
7 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1388983231 CA341866047 |
8 | L>P | No |
ClinGen TOPMed |
|
|
CA341865974 rs1217237337 |
12 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA341865866 rs1276029798 |
15 | L>F | No |
ClinGen gnomAD |
|
|
COSM158888 CA341865766 rs1329807784 |
19 | P>T | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs148059632 CA1039252 |
20 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774864022 CA1039250 |
21 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA341865589 rs1335571209 |
24 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 25 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1039249 rs771390058 |
26 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs749661123 CA1039248 |
26 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs778057993 CA1039247 |
27 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 28 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341865303 rs1181955355 |
30 | V>E | No |
ClinGen gnomAD |
|
|
CA1039245 rs748394761 |
31 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1236043358 CA341865169 |
36 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA341865175 rs1571136880 |
36 | G>R | No |
ClinGen Ensembl |
|
|
CA1039244 rs755061645 |
39 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1039243 rs755061645 |
39 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30297718 rs1037947574 |
40 | S>L | No |
ClinGen Ensembl |
|
|
rs751639176 CA1039242 |
41 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA1039241 rs780170758 |
43 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1274759426 CA341864934 |
45 | I>T | No |
ClinGen gnomAD |
|
|
rs41276636 CA1039240 |
45 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs908014369 CA30297703 |
46 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA341864880 rs1260611137 |
46 | P>S | No |
ClinGen TOPMed |
|
|
rs1177223868 CA341864856 |
47 | E>K | No |
ClinGen gnomAD |
|
|
rs1257548940 CA341864747 |
49 | L>R | No |
ClinGen TOPMed |
|
|
CA1039239 rs201865600 |
50 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341864662 rs761413158 |
52 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1039237 rs761413158 |
52 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA341864625 rs1412508655 |
53 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA341864648 rs1335965197 |
53 | G>R | No |
ClinGen gnomAD |
|
|
CA341864633 rs1412508655 |
53 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs137940074 CA341864563 |
55 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1039235 rs137940074 |
55 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341864579 rs1159166802 |
55 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 55 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760265883 CA1039234 |
57 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341864488 rs1418039398 |
59 | V>L | No |
ClinGen TOPMed |
|
|
CA1039230 rs773628655 |
62 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1039231 rs763441999 |
62 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1212742260 CA341864354 |
63 | S>C | No |
ClinGen gnomAD |
|
|
rs141121413 CA1039229 |
64 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 67 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1039227 COSM527790 rs587767623 |
67 | Q>H | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs747088337 CA1039225 |
69 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1158456223 CA341864155 |
69 | K>R | No |
ClinGen gnomAD |
|
|
rs1239462210 CA341864021 |
72 | K>E | No |
ClinGen gnomAD |
|
|
rs1286153279 CA341863877 |
76 | H>Y | No |
ClinGen gnomAD |
|
|
CA341863796 rs1339648380 |
79 | P>H | No |
ClinGen gnomAD |
|
|
rs750354655 CA1039222 |
79 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA341863785 rs1298510649 |
80 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 80 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341863732 rs1421467311 |
81 | R>T | No |
ClinGen gnomAD |
|
|
CA1039221 rs778622670 |
82 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753539865 CA1039219 |
83 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1017644291 CA30297489 |
84 | L>F | No |
ClinGen TOPMed |
|
|
rs763814394 CA1039218 |
85 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341863607 rs755709661 |
89 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs752265812 CA1039216 |
89 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs755709661 CA1039217 |
89 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1280658470 CA341863471 |
92 | S>F | No |
ClinGen TOPMed |
|
|
CA341863475 rs1181865325 |
92 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA341863461 rs1489572905 |
94 | T>P | No |
ClinGen gnomAD |
|
|
CA1039214 rs763487252 |
95 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1039213 rs773683718 |
96 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557795725 CA341863433 |
98 | E>V | No |
ClinGen Ensembl |
|
|
CA341863416 rs1243918038 COSM137319 |
101 | E>K | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1183188027 CA341863410 |
102 | D>N | No |
ClinGen TOPMed |
|
|
rs368265642 CA1039211 |
103 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA1039212 rs765610008 |
103 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768935053 CA1039209 |
104 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1338405174 CA341863383 |
106 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA341863379 rs1418294935 |
106 | I>T | No |
ClinGen TOPMed |
|
|
rs1175736363 CA341863371 |
107 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 107 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 107 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341863361 rs1436662141 |
109 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 110 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs966963262 CA30297389 |
110 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 112 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1039207 rs587685873 |
113 | M>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs587685873 CA1039206 |
113 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1023282215 CA30297385 |
113 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs146837536 CA1039205 |
114 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1039200 rs587666591 |
116 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375710052 CA1039201 |
116 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1219415067 CA341863309 |
117 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1207602294 CA341863289 |
119 | S>F | No |
ClinGen TOPMed |
|
|
CA1039198 rs752310831 |
121 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1039196 rs754502895 |
122 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1039197 rs767059190 |
122 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA1039194 rs149981088 |
123 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1196852098 CA341863232 |
124 | A>P | No |
ClinGen TOPMed |
|
|
rs1369584275 CA341863219 |
125 | T>A | No |
ClinGen gnomAD |
|
|
CA341863207 rs1438211872 |
126 | I>R | No |
ClinGen TOPMed |
|
|
rs777110616 CA1039191 |
126 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147294252 CA1039190 |
128 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM318522 rs1396074262 CA341863171 |
129 | C>F | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1467573911 CA341863161 |
130 | M>I | No |
ClinGen gnomAD |
|
|
rs899138662 CA341863165 |
130 | M>L | No |
ClinGen gnomAD |
|
|
rs369203475 CA30297303 |
130 | M>T | No |
ClinGen ESP |
|
|
CA30297318 rs899138662 |
130 | M>V | No |
ClinGen gnomAD |
|
|
rs112598907 CA30297299 |
132 | G>C | No |
ClinGen Ensembl |
|
|
CA30297296 rs1037978740 |
134 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1039188 rs587753989 |
136 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1374828553 CA341863097 |
136 | V>L | No |
ClinGen TOPMed |
|
|
rs377252026 CA30297272 |
137 | F>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA341863051 rs1200766955 |
139 | I>T | No |
ClinGen gnomAD |
|
|
CA1039186 rs772386110 |
139 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA341862992 rs1443012521 |
143 | H>R | No |
ClinGen TOPMed |
|
|
CA1039183 rs770963390 |
145 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1051015266 CA30297241 |
146 | I>T | No |
ClinGen TOPMed |
|
|
rs749182555 CA341862935 |
148 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA1039182 rs749182555 |
148 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs777659301 CA1039181 |
151 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777659301 CA341862908 |
151 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341862889 rs1297325184 |
153 | P>S | No |
ClinGen TOPMed |
|
|
rs755877794 CA1039180 |
154 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1298007405 CA341862820 |
158 | V>A | No |
ClinGen gnomAD |
|
|
rs199726687 CA1039178 |
158 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199726687 CA341862827 |
158 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341862802 rs1557795529 |
159 | V>A | No |
ClinGen Ensembl |
|
| TCGA novel | 161 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1039175 rs779416418 |
161 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200169839 CA1039173 |
163 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1039171 rs761151761 |
166 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs376100056 CA30297204 |
170 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1039170 rs376100056 |
170 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1039168 rs138842159 |
172 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143551905 CA1039167 |
173 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763000727 CA1039165 |
175 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341862631 rs1354257601 |
175 | S>T | No |
ClinGen gnomAD |
|
|
CA1039163 rs769681711 |
176 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369891328 CA1039164 |
176 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA30297131 rs144018958 COSM1560051 |
177 | D>G | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA gnomAD |
|
rs924925461 CA30297133 |
177 | D>N | No |
ClinGen Ensembl |
|
|
rs1301406724 CA341862514 |
179 | I>M | No |
ClinGen gnomAD |
|
|
CA341862523 rs1557795455 |
179 | I>T | No |
ClinGen Ensembl |
|
|
rs747943688 CA1039161 |
180 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA341862479 rs1452723435 |
181 | W>R | No |
ClinGen Ensembl |
|
|
CA1039160 rs587659872 |
183 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768357303 CA1039159 |
184 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs966686307 CA30297071 |
189 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA341862299 rs1336336681 |
190 | A>E | No |
ClinGen TOPMed |
|
|
rs1336336681 CA341862301 |
190 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs757867438 CA1039155 |
191 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341862232 rs1219908944 |
193 | R>S | No |
ClinGen TOPMed |
|
|
CA1039152 rs756630358 |
193 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774253281 CA30297032 |
198 | S>C | No |
ClinGen Ensembl |
|
|
rs753167602 CA1039151 |
199 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA1039150 rs767986095 |
200 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341862085 rs1245156195 |
201 | H>Y | No |
ClinGen gnomAD |
|
|
rs375773692 CA1039149 |
203 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 204 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs999252293 CA30296999 |
206 | E>K | No |
ClinGen TOPMed |
|
|
CA341861920 rs1571136333 |
211 | F>L | No |
ClinGen Ensembl |
|
|
rs773212860 CA1039145 |
212 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs762977289 CA1039146 |
212 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1039144 rs587699560 |
215 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341861828 rs1571136325 |
215 | R>K | No |
ClinGen Ensembl |
|
| TCGA novel | 215 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341861781 rs1384348709 |
217 | R>S | No |
ClinGen gnomAD |
|
|
rs776477537 CA1039142 |
219 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs187002434 CA1039141 |
220 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746769828 CA1039140 |
220 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30296938 rs376536567 |
221 | N>S | No |
ClinGen ESP TOPMed |
|
|
rs1270031706 CA341861690 |
222 | N>D | No |
ClinGen Ensembl |
|
|
rs41276634 CA1039139 |
222 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1039137 rs201439972 |
224 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1039136 rs201439972 |
224 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771687212 CA1039138 |
224 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA30296911 rs1037530684 |
226 | V>F | No |
ClinGen TOPMed |
|
|
rs756749170 CA1039135 |
227 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1039133 rs781721317 |
228 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748631288 CA1039134 |
228 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1487326035 CA341861582 |
231 | I>V | No |
ClinGen gnomAD |
|
|
CA1039131 rs140709609 |
232 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1039129 rs758590430 |
234 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA30296849 rs868045361 |
235 | G>R | No |
ClinGen gnomAD |
|
|
rs376240673 CA1039127 |
238 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1039128 rs376240673 |
238 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341861500 rs1188828970 |
239 | T>A | No |
ClinGen TOPMed |
|
|
rs886731921 CA30296840 |
239 | T>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 242 | Q>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1408393347 CA341861465 |
242 | Q>E | No |
ClinGen TOPMed |
|
|
rs776527983 CA341861448 |
243 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs776527983 CA1039124 |
243 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1388561274 CA341861451 |
243 | D>H | No |
ClinGen gnomAD |
|
|
COSM3788516 rs1388561274 CA341861453 |
243 | D>N | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1325470850 CA341861431 |
245 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs371890150 CA1039123 |
245 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1038778056 CA341861422 |
246 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1038778056 CA30296793 |
246 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs760391407 CA1039122 |
248 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA341861386 rs1208441566 |
249 | H>N | No |
ClinGen Ensembl |
|
|
rs775296308 CA1039121 |
249 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771678408 CA1039120 |
250 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1378107188 CA341861359 |
251 | K>T | No |
ClinGen gnomAD |
|
|
rs1200439340 CA341861353 |
252 | A>S | No |
ClinGen gnomAD |
|
|
rs1200439340 CA341861356 |
252 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1320075 CA341861345 rs1449359792 |
252 | A>V | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA341861306 rs1198885004 |
256 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1198885004 CA341861305 |
256 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
rs774041463 CA1039118 |
257 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA1039117 rs770538963 |
261 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs779200633 CA30296757 |
262 | I>V | No |
ClinGen Ensembl |
|
|
CA1039115 rs200088734 COSM3399609 |
263 | R>C | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1039116 rs200088734 |
263 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1039113 rs368586129 |
263 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368586129 CA1039114 |
263 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200088734 CA341861235 |
263 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571136170 CA341861225 |
264 | V>A | No |
ClinGen Ensembl |
|
|
rs371062982 CA341861228 |
264 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371062982 CA1039110 |
264 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371062982 CA1039111 |
264 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341861216 rs1307339876 |
265 | G>E | No |
ClinGen TOPMed |
|
|
rs145107672 CA30296715 |
266 | Y>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1266545644 CA341861191 |
268 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA341861176 rs1402680253 |
269 | L>* | No |
ClinGen gnomAD |
|
|
CA30296711 rs945019600 |
269 | L>F | No |
ClinGen Ensembl |
|
|
CA30296710 rs917872351 |
272 | V>I | No |
ClinGen TOPMed |
|
|
CA1039108 rs373724359 |
274 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373724359 CA30296701 |
274 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1039107 rs370232931 |
274 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs753847620 CA1039106 |
275 | R>T | No |
ClinGen ExAC |
|
| TCGA novel | 276 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1476960635 CA341861112 |
276 | F>L | No |
ClinGen gnomAD |
|
|
rs1393966906 CA341861107 |
276 | F>Y | No |
ClinGen gnomAD |
|
|
CA341861096 rs1233440243 |
277 | V>A | No |
ClinGen TOPMed |
|
|
CA1039105 rs763950171 |
277 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs775212621 CA341861084 |
278 | I>K | No |
ClinGen ExAC gnomAD |
|
|
rs1571136112 CA341861080 |
278 | I>M | No |
ClinGen Ensembl |
|
|
CA1039103 rs775212621 |
278 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs767309454 CA1039102 |
279 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376458594 CA30296661 |
279 | Y>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1039101 rs759307275 COSM384569 |
280 | K>* | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA1039100 rs373396716 |
282 | S>N | No |
ClinGen ESP ExAC TOPMed |
|
| rs757984494 | 282 | S>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557795224 CA341861029 |
283 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA30296634 rs370658414 |
286 | A>V | No |
ClinGen ESP TOPMed |
|
|
CA1039097 rs762560432 COSM259317 |
287 | R>C | large_intestine Variant assessed as Somatic; 9.241e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1039095 rs201579598 |
287 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1039096 rs201579598 |
287 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341860946 rs1277994418 |
290 | S>P | No |
ClinGen gnomAD |
|
|
CA341860873 rs1306543666 |
293 | A>V | No |
ClinGen gnomAD |
|
|
rs1295770679 CA341860868 |
294 | H>D | No |
ClinGen gnomAD |
|
|
CA1039093 rs780324557 |
294 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1004906912 CA30296582 |
296 | Y>C | No |
ClinGen Ensembl |
|
| TCGA novel | 297 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779112439 CA1039090 |
299 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1283261 rs1571136030 CA341860732 |
300 | K>N | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 301 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 302 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557795184 CA341860663 |
304 | A>T | No |
ClinGen Ensembl |
|
|
CA1039087 rs757412034 |
304 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1158764897 CA341860622 |
306 | A>P | No |
ClinGen gnomAD |
|
|
CA1039086 rs753975087 |
307 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs777903328 CA1039085 COSM1333265 |
308 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1039083 rs751005187 |
310 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs900680793 CA30296505 |
311 | K>Q | No |
ClinGen Ensembl |
|
|
rs760941629 CA30296504 |
312 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs760941629 CA341860522 |
312 | V>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 314 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1039082 rs767305753 |
316 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30296503 rs1037007087 |
317 | Y>H | No |
ClinGen TOPMed |
|
|
rs766145128 CA1039079 |
321 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA30296470 rs936839708 |
322 | S>N | No |
ClinGen Ensembl |
|
|
rs762684242 CA1039078 |
323 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA30296438 rs941346359 |
325 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1244680035 CA341860271 |
326 | D>A | No |
ClinGen TOPMed |
|
|
rs769317336 CA1039076 |
326 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA341860277 rs769317336 |
326 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1223439366 CA341860246 |
327 | T>R | No |
ClinGen gnomAD |
|
|
rs1557795127 CA341860238 |
328 | N>D | No |
ClinGen Ensembl |
|
|
CA1039075 rs202246434 |
328 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776087621 CA1039074 |
330 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA341860162 rs1167922024 |
332 | P>S | No |
ClinGen TOPMed |
|
|
CA30296404 rs945077516 |
335 | W>* | No |
ClinGen Ensembl |
|
|
CA1039072 rs746244883 |
335 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs144550343 CA1039071 |
337 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1342939884 CA341860064 |
338 | H>Y | No |
ClinGen gnomAD |
|
|
rs1157676335 CA341860029 |
339 | E>D | No |
ClinGen gnomAD |
|
|
rs1354019043 CA341860012 |
341 | G>S | No |
ClinGen gnomAD |
|
|
CA341859974 rs1405627922 |
344 | V>I | No |
ClinGen gnomAD |
|
|
CA1039069 rs771208017 |
345 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1397104085 CA341859940 |
346 | M>I | No |
ClinGen TOPMed |
|
|
CA1039068 rs749492038 |
348 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1195036139 CA341859904 |
349 | D>E | No |
ClinGen gnomAD |
|
|
CA341859914 rs1171600242 |
349 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs917390514 CA30296379 |
349 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1039067 rs777761187 |
351 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs756236574 CA341859853 |
354 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_024597 CA1039061 rs2641348 |
359 | L>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs754909170 CA1039062 |
359 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs766274936 CA1039059 |
362 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766274936 CA341859802 |
362 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341859792 rs750069068 |
363 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1039057 COSM308881 rs750069068 |
363 | M>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1209089308 CA341859785 |
364 | G>V | No |
ClinGen TOPMed |
|
|
CA1039055 rs761418593 |
367 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs775944924 CA1039054 |
367 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1039053 rs369903502 COSM894729 |
368 | T>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1039052 rs760030228 |
369 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA30296332 rs962518414 |
371 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1039051 rs774735574 |
375 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs749563971 CA1039049 |
376 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA526249656 rs1478388883 |
377 | S>F | No |
ClinGen gnomAD |
|
|
CA30296315 rs773509669 |
378 | F>L | No |
ClinGen ExAC gnomAD |
|
| rs1468166203 | 379 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139123456 COSM3704888 CA1039045 |
379 | F>L | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA1039044 rs748278094 |
381 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA1039042 rs781411347 |
382 | I>T | No |
ClinGen ExAC |
|
|
CA341859596 rs1305747785 |
383 | S>F | No |
ClinGen gnomAD |
|
|
CA1039041 COSM171176 rs141186333 |
384 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1369112415 CA341859567 |
386 | A>E | No |
ClinGen gnomAD |
|
|
CA1039038 rs751870675 |
387 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764956077 CA1039036 |
393 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1415476936 CA341859364 |
398 | V>M | No |
ClinGen gnomAD |
|
|
rs1191785679 CA341859338 |
399 | L>R | No |
ClinGen gnomAD |
|
|
rs764329203 CA30296262 |
399 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs587601976 CA1039033 |
401 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341859306 rs587601976 |
401 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201810316 CA1039031 |
402 | C>R | No |
ClinGen 1000Genomes ExAC |
|
|
rs1178791896 CA341859282 |
402 | C>Y | No |
ClinGen gnomAD |
|
|
rs1479535147 CA341859266 |
403 | G>A | No |
ClinGen gnomAD |
|
|
rs900803268 CA30296216 |
404 | N>D | No |
ClinGen Ensembl |
|
|
rs766828026 CA1039029 |
406 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1349898999 CA341859223 |
406 | I>N | No |
ClinGen gnomAD |
|
|
CA1039030 rs587663718 |
406 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs111925671 CA30296203 |
408 | E>G | No |
ClinGen Ensembl |
|
|
CA341859206 rs1352614774 |
408 | E>Q | No |
ClinGen TOPMed |
|
|
rs1557794926 CA341859180 |
409 | D>E | No |
ClinGen Ensembl |
|
|
rs763377661 CA1039028 |
409 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1377240467 CA341859175 |
410 | N>D | No |
ClinGen gnomAD |
|
|
rs1310981451 CA341859173 |
410 | N>S | No |
ClinGen gnomAD |
|
|
CA1039026 rs770115548 |
412 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1557794884 CA341859042 |
418 | T>I | No |
ClinGen Ensembl |
|
|
rs748316220 CA1039022 |
419 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs776893426 CA1039021 |
421 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30296169 rs1005591450 |
423 | K>E | No |
ClinGen TOPMed |
|
|
CA1039020 rs768835755 |
423 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs145141310 CA1039019 |
424 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM675007 CA1039017 rs145317971 |
425 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs368258402 CA1039018 |
425 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA341858873 rs1471387212 |
427 | C>* | No |
ClinGen TOPMed |
|
|
CA1039016 rs140489804 |
428 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341858831 rs1486632818 |
429 | S>* | No |
ClinGen gnomAD |
|
|
CA1039015 rs778567520 |
430 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA341858815 rs778567520 |
430 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1209598096 CA341858770 |
432 | K>R | No |
ClinGen gnomAD |
|
|
rs1175423009 CA341858232 |
435 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs587607904 CA1039012 |
436 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1403027952 CA341858227 |
436 | G>R | No |
ClinGen TOPMed |
|
|
CA341858193 rs755650418 |
438 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341858190 rs1310538487 |
438 | N>K | No |
ClinGen TOPMed |
|
|
rs755650418 CA1039011 |
438 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341858181 rs1306786805 |
439 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA341858166 rs1240675295 |
440 | S>N | No |
ClinGen TOPMed |
|
|
CA1039009 rs766919168 |
441 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752132571 CA1039010 |
441 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1236062482 CA341858118 |
444 | C>Y | No |
ClinGen TOPMed |
|
|
rs372067600 CA1039006 |
446 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341858072 rs1200358753 |
447 | D>H | No |
ClinGen TOPMed |
|
|
CA341858040 rs776647536 |
449 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1039004 rs762145751 |
449 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1039005 rs776647536 |
449 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs937654827 CA30296058 |
451 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1039003 rs777017829 |
451 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1438007761 CA341857995 |
452 | P>L | No |
ClinGen TOPMed |
|
|
rs147643084 CA1039001 |
453 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1038999 rs745759637 |
456 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1038998 rs745759637 |
456 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778815352 CA1038997 |
458 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1557794786 CA341857925 |
458 | R>S | No |
ClinGen Ensembl |
|
|
rs770650583 CA1038996 |
459 | Q>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 461 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1200682951 CA341857892 |
461 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 461 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866185301 COSM397055 CA30296041 |
463 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA341857861 rs1485369323 |
464 | C>R | No |
ClinGen gnomAD |
|
| TCGA novel | 465 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749039340 CA1038995 |
466 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1038993 rs755701771 |
469 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs777403590 CA1038994 |
469 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148460316 CA30296028 |
470 | C>R | No |
ClinGen ESP gnomAD |
|
|
CA341857815 rs752265647 |
470 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1038990 rs183935565 |
471 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1038991 rs183935565 |
471 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs867694217 CA30296016 |
472 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA30296018 CA1038988 rs368574621 |
472 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1038985 rs764425856 |
474 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754189445 CA1038986 |
474 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163881163 CA341857773 |
477 | C>* | No |
ClinGen gnomAD |
|
|
rs1320550190 CA341857769 |
478 | P>R | No |
ClinGen TOPMed |
|
|
CA1038984 rs374608819 |
478 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1199846716 CA341857758 |
480 | D>N | No |
ClinGen TOPMed |
|
|
rs775753022 CA341857748 |
481 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775753022 CA1038983 COSM1181811 |
481 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1038981 rs759610347 |
484 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1267361011 CA341857718 |
485 | D>G | No |
ClinGen gnomAD |
|
|
CA30295958 rs267597955 |
485 | D>N | No |
ClinGen Ensembl |
|
|
rs1466820627 CA341857704 |
487 | T>S | No |
ClinGen gnomAD |
|
|
rs983558313 CA30295937 |
488 | P>L | No |
ClinGen Ensembl |
|
|
CA341857702 rs1195710410 |
488 | P>T | No |
ClinGen TOPMed |
|
|
CA1038979 rs770832799 |
489 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1340748511 CA341857681 |
491 | Y>H | No |
ClinGen gnomAD |
|
|
rs1225424445 CA341857662 |
493 | G>A | No |
ClinGen gnomAD |
|
|
CA1038976 COSM894727 rs149279290 |
494 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1038974 rs148305137 |
494 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1038975 rs148305137 |
494 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs587690484 CA1038972 |
495 | C>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs587690484 CA1038973 |
495 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201129849 CA1038971 |
497 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754320276 CA1038968 |
500 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341857530 rs1377717601 |
505 | M>L | No |
ClinGen gnomAD |
|
|
rs1374878108 CA341857525 |
505 | M>T | No |
ClinGen TOPMed |
|
|
CA1038967 rs764520153 |
507 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764520153 CA341857494 |
507 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341857445 rs1404060202 |
512 | G>E | No |
ClinGen gnomAD |
|
|
CA341857429 rs1397817023 |
513 | P>H | No |
ClinGen TOPMed |
|
|
CA341857398 rs1442902011 |
515 | A>V | No |
ClinGen TOPMed |
|
|
CA341857387 rs1438752484 |
516 | M>T | No |
ClinGen gnomAD |
|
|
CA30295889 rs201440427 |
516 | M>V | No |
ClinGen Ensembl |
|
|
rs766359307 CA1038961 |
517 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774429626 CA1038962 |
517 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs762875766 CA1038960 |
518 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1038958 rs769559013 |
519 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341857327 rs1346061372 |
521 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA341857287 rs1452966728 |
523 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs587772991 CA1038957 |
523 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776179931 CA1038956 |
524 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1326547809 CA341857255 |
525 | A>E | No |
ClinGen gnomAD |
|
|
rs1390775890 CA341857238 |
527 | N>Y | No |
ClinGen gnomAD |
|
|
CA341857220 rs1380903794 |
528 | L>* | No |
ClinGen gnomAD |
|
|
CA341857209 rs1263900287 |
529 | I>T | No |
ClinGen TOPMed |
|
|
CA341857177 rs201199546 |
531 | D>E | No |
ClinGen 1000Genomes gnomAD |
|
|
rs953768388 CA30295817 |
532 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1160401065 CA341857149 |
533 | F>L | No |
ClinGen gnomAD |
|
|
rs1192833367 CA341857130 |
534 | G>R | No |
ClinGen TOPMed |
|
|
CA341857107 rs1470927646 |
535 | N>K | No |
ClinGen gnomAD |
|
|
CA1038952 rs757877173 |
537 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs976637987 CA30295788 |
539 | T>A | No |
ClinGen TOPMed |
|
|
rs1165145134 CA341857059 |
540 | G>* | No |
ClinGen TOPMed |
|
|
rs1349110972 CA341857056 |
540 | G>V | No |
ClinGen TOPMed |
|
|
CA1038950 rs773182987 |
542 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771971833 CA1038948 |
542 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771971833 CA1038949 |
542 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 544 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1038947 rs767643018 |
546 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1484733718 CA341857013 |
547 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1484733718 CA341857014 |
547 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA30295769 rs1015546430 |
548 | E>K | No |
ClinGen TOPMed |
|
|
rs369336941 CA30295767 |
550 | A>E | No |
ClinGen Ensembl |
|
|
CA341856992 rs1279622738 |
550 | A>T | No |
ClinGen gnomAD |
|
|
CA1038946 rs747868356 |
552 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1038945 rs751654778 |
553 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA30295757 rs587635520 |
553 | I>V | No |
ClinGen 1000Genomes |
|
|
CA1038944 rs370047843 |
555 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341856903 rs587760394 |
558 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs587760394 CA1038942 |
558 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773159883 CA1038939 |
560 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1038938 rs765121126 |
563 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1321532727 CA341856779 |
565 | I>V | No |
ClinGen TOPMed |
|
|
CA341856753 rs1288491901 |
566 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1038936 rs776431764 |
566 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs768252770 CA1038935 |
567 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1418942691 CA341856752 |
567 | D>N | No |
ClinGen gnomAD |
|
|
rs1488653339 CA341856724 |
568 | L>F | No |
ClinGen TOPMed |
|
|
rs1013016906 CA30295697 |
572 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs367708640 CA1038934 |
572 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs367708640 CA341856670 |
572 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201907097 CA1038932 |
574 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1421888521 CA341856615 |
577 | T>I | No |
ClinGen TOPMed |
|
|
CA341856611 rs1335244157 |
578 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA1038929 rs778425367 |
580 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs756628376 CA1038928 |
583 | N>K | No |
ClinGen ExAC |
|
|
CA341856544 rs1231404227 |
584 | L>F | No |
ClinGen gnomAD |
|
|
CA1038927 rs137857672 |
585 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141980320 CA1038926 |
585 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 586 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs587673872 CA1038925 |
586 | C>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1571135166 CA341856529 |
586 | C>Y | No |
ClinGen Ensembl |
|
|
CA1038924 rs751787146 |
587 | W>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 589 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA30295653 rs778426205 |
590 | G>S | No |
ClinGen Ensembl |
|
|
CA30295651 rs896262197 |
591 | Y>C | No |
ClinGen gnomAD |
|
|
CA1038923 rs780205491 |
591 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA341856491 rs1227025931 |
592 | H>N | No |
ClinGen TOPMed |
|
|
rs750435969 CA1038921 |
594 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs867231646 CA30295620 |
595 | M>I | No |
ClinGen Ensembl |
|
|
CA341856443 rs1413669724 |
596 | K>E | No |
ClinGen gnomAD |
|
|
CA1038918 rs761798921 |
598 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs373856735 CA1038919 |
598 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341856417 rs1476431997 |
598 | M>T | No |
ClinGen gnomAD |
|
|
CA1038917 rs267597954 |
599 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA1038916 rs763926510 |
601 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1274849240 CA341856385 |
601 | P>L | No |
ClinGen gnomAD |
|
|
CA30295618 rs763926510 |
601 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1056205764 CA30295608 |
602 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs587677642 CA1038915 |
602 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341856373 rs1216187592 |
603 | L>I | No |
ClinGen gnomAD |
|
|
CA1038913 rs771783682 |
604 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759128124 CA1038912 |
606 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1360939889 CA341856325 |
607 | N>K | No |
ClinGen gnomAD |
|
|
CA1038911 rs773980783 |
607 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370710388 CA1038910 |
609 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 609 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748654448 CA1038909 |
610 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30295567 rs143750780 |
611 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
CA341856289 rs1180208850 |
611 | S>P | No |
ClinGen TOPMed |
|
|
rs1171742552 CA341856255 |
614 | E>K | No |
ClinGen gnomAD |
|
|
rs139127742 CA1038905 COSM4140779 |
616 | R>Q | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA1038906 rs374077889 |
616 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1422696007 CA341856212 |
618 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA341856213 rs1422696007 |
618 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1177414444 CA341856193 |
619 | F>L | No |
ClinGen TOPMed |
|
|
COSM1160854 CA341856187 rs1454902574 |
620 | K>* | Variant assessed as Somatic; 0.0 impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| rs750058585 | 622 | N>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1047372526 CA341856157 |
622 | N>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA341856149 rs1557794424 |
622 | N>K | No |
ClinGen Ensembl |
|
| rs750058585 | 622 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1047372526 CA30295534 |
622 | N>S | No |
ClinGen gnomAD |
|
|
CA341856139 rs1488037452 |
623 | C>Y | No |
ClinGen gnomAD |
|
|
COSM675009 CA1038900 rs778961237 |
624 | V>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs922416639 CA30295506 |
625 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA1038898 rs368865163 |
625 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341856080 rs1278012645 |
627 | S>* | No |
ClinGen TOPMed |
|
|
rs763897244 CA1038897 |
628 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs760523161 CA1038896 |
630 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30295456 rs939878871 |
630 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 633 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752478784 CA1038894 |
634 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 635 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1457188357 CA341855981 |
636 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 636 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1353238728 CA341855950 |
638 | C>S | No |
ClinGen gnomAD |
|
|
rs1219407604 CA341855947 |
638 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1038892 rs759255911 |
640 | T>A | No |
ClinGen ExAC |
|
|
rs774041419 CA1038891 |
640 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377010184 CA1038890 |
641 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA30295398 rs984058539 |
641 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA341855892 rs1408478921 |
643 | V>A | No |
ClinGen gnomAD |
|
|
CA341855881 rs1479643949 |
644 | C>R | No |
ClinGen gnomAD |
|
|
CA30295389 rs192119054 |
645 | N>K | No |
ClinGen Ensembl |
|
|
CA341855858 rs1422469951 |
646 | N>H | No |
ClinGen TOPMed |
|
|
CA341855850 rs1468660714 |
646 | N>S | No |
ClinGen TOPMed |
|
|
rs79670168 CA30295383 |
647 | R>K | No |
ClinGen Ensembl |
|
|
rs762322863 CA1038889 |
648 | K>R | No |
ClinGen ExAC gnomAD |
|
| rs752963541 | 649 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1401453104 CA341855815 |
649 | N>S | No |
ClinGen TOPMed |
|
|
CA30295360 rs923380347 |
650 | C>R | No |
ClinGen Ensembl |
|
|
rs587720885 CA1038886 |
650 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780384742 CA1038884 |
651 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA341855783 rs1225811644 |
652 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs369448334 CA1038883 |
654 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341855711 rs1365625701 |
656 | W>* | No |
ClinGen TOPMed |
|
|
rs746060584 CA1038882 |
656 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA30295294 rs960024265 |
658 | P>S | No |
ClinGen TOPMed |
|
|
CA1038881 rs778951766 |
659 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs749260309 CA1038879 |
660 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341855652 rs1465764268 |
662 | E>G | No |
ClinGen gnomAD |
|
|
rs755989092 CA1038877 |
663 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1351668231 CA341855619 |
665 | G>A | No |
ClinGen Ensembl |
|
|
CA341855574 rs1410872590 |
669 | S>R | No |
ClinGen gnomAD |
|
|
rs1188592077 CA341855563 |
670 | I>M | No |
ClinGen gnomAD |
|
|
CA1038874 rs754723269 |
672 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs964701332 CA30295266 |
674 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs781732966 CA30295257 |
676 | G>E | No |
ClinGen TOPMed |
|
|
rs751282903 CA1038873 |
678 | L>R | No |
ClinGen ExAC |
|
|
CA341855481 rs1262110336 |
679 | R>K | No |
ClinGen gnomAD |
|
|
CA30295251 rs779652474 |
680 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1038871 rs762534011 |
681 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1038870 rs115551394 |
681 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA30295234 rs903353815 |
682 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1038867 rs151208318 |
684 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200920539 CA1038865 |
686 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 687 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs587709653 CA1038864 |
688 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201365967 CA1038863 |
689 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201365967 CA341855376 |
689 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749438899 CA1038862 |
691 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs867362098 CA30295189 |
692 | I>M | No |
ClinGen Ensembl |
|
|
CA30295193 rs78124908 |
692 | I>R | No |
ClinGen Ensembl |
|
|
CA1038861 rs777707651 |
692 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1038859 CA30295178 rs748073569 |
693 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756158252 CA1038860 |
693 | M>V | No |
ClinGen ExAC gnomAD |
|
|
COSM202447 CA1038858 rs781229975 |
695 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA30295163 rs201269148 |
695 | R>H | No |
ClinGen gnomAD |
|
|
rs900802798 CA30295137 |
697 | I>T | No |
ClinGen TOPMed |
|
|
CA1038856 rs751336251 |
699 | L>S | No |
ClinGen ExAC |
|
| TCGA novel | 701 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 701 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1214679795 CA341855209 |
706 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 708 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1038853 rs750017671 |
709 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1038854 rs529944099 COSM2179966 |
709 | R>W | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1327120630 CA341855161 |
711 | V>G | No |
ClinGen gnomAD |
|
|
CA341855141 rs1297758046 |
713 | G>R | No |
ClinGen gnomAD |
|
|
rs776006983 CA1038849 |
724 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs587773008 CA1038847 |
726 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341854967 rs1392285599 |
726 | S>P | No |
ClinGen gnomAD |
|
|
CA341854951 rs1374327810 |
727 | K>Q | No |
ClinGen gnomAD |
|
|
CA341854907 rs1453365231 |
728 | A>G | No |
ClinGen gnomAD |
|
|
rs1557794228 CA341854899 |
729 | K>R | No |
ClinGen Ensembl |
|
|
CA1038844 rs771247596 |
730 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30295053 rs771247596 |
730 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341854884 rs771247596 |
730 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749435424 CA1038843 |
731 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs773386898 CA1038842 |
732 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA341854811 rs1473360376 |
735 | S>T | No |
ClinGen TOPMed |
|
|
rs183553633 CA30295007 |
735 | S>Y | No |
ClinGen Ensembl |
|
|
CA1038840 rs35273427 VAR_061738 |
737 | T>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 737 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341854740 rs1571134677 |
738 | K>E | No |
ClinGen Ensembl |
|
|
rs1016575371 CA30294997 |
739 | T>I | No |
ClinGen gnomAD |
|
|
CA1038839 rs61757468 |
740 | V>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1293153 CA1038838 rs61757468 |
740 | V>G | cervix [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs138324844 CA1038837 |
741 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA30294981 rs370884213 |
742 | E>G | No |
ClinGen ESP TOPMed |
|
|
rs1275301425 CA341854652 |
742 | E>K | No |
ClinGen gnomAD |
|
|
CA341854603 rs1341792042 |
744 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA1038835 rs61757469 |
745 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs61757470 CA1038834 |
746 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1329149520 CA341854554 |
746 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA341854552 rs1322601508 |
747 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 747 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1038833 rs778495308 |
748 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200205779 CA1038830 |
749 | G>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA1038829 rs201156466 |
750 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs61752482 COSM349740 CA30294955 |
754 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1046963776 CA30294950 |
755 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA341854415 COSM894723 rs1046963776 |
755 | A>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA341854391 rs1428529037 |
757 | T>A | No |
ClinGen gnomAD |
|
|
CA341854370 rs1402094024 |
758 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA341854344 rs1241704251 |
759 | Q>H | No |
ClinGen TOPMed |
|
|
rs369635815 CA1038826 |
760 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1452134921 CA341854338 |
760 | E>K | No |
ClinGen gnomAD |
|
|
CA341854305 rs1438953022 |
761 | E>* | No |
ClinGen gnomAD |
|
|
CA341854296 rs1159514994 |
762 | S>T | No |
ClinGen TOPMed |
|
|
CA1038823 rs141525182 |
763 | K>E | No |
ClinGen 1000Genomes TOPMed |
|
|
rs766628136 CA1038822 |
764 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1451790788 CA341854274 |
764 | A>T | No |
ClinGen TOPMed |
|
|
CA341854236 rs1203190531 |
766 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA341854218 rs1236808087 |
767 | G>A | No |
ClinGen gnomAD |
|
|
CA1038820 rs587616417 |
767 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1038819 rs773341097 |
768 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA341854206 rs773341097 |
768 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs770078837 CA1038818 |
769 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs776842006 CA1038816 |
771 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA1038817 rs776842006 |
771 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA341854105 rs1337532992 |
773 | A>G | No |
ClinGen gnomAD |
|
|
rs1402742535 CA341854116 |
773 | A>T | No |
ClinGen TOPMed |
|
|
CA341853551 rs1306107558 |
774 | N>I | No |
ClinGen gnomAD |
|
|
CA341853553 rs1306107558 |
774 | N>T | No |
ClinGen gnomAD |
|
|
CA1038811 rs768780665 |
775 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA341853545 rs768780665 |
775 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA341853519 rs1395397908 |
777 | S>G | No |
ClinGen TOPMed |
|
|
rs900983687 CA30294814 |
777 | S>N | No |
ClinGen Ensembl |
|
|
rs17852537 CA30294789 |
778 | K>E | No |
ClinGen Ensembl |
|
|
CA1038810 rs746889624 |
779 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30294774 rs202072496 |
779 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1038809 rs202072496 |
779 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA30294771 rs146585645 |
780 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1308146924 CA341853446 |
782 | A>V | No |
ClinGen TOPMed |
|
|
rs1234874192 CA341853435 |
783 | K>N | No |
ClinGen TOPMed |
|
|
CA30294744 rs587620322 |
784 | S>C | No |
ClinGen 1000Genomes |
|
|
rs1029209962 CA30294740 |
784 | S>R | No |
ClinGen TOPMed |
|
|
rs1346262248 CA341853405 |
786 | K>R | No |
ClinGen TOPMed |
|
|
rs185596498 CA30294739 |
788 | Q>K | No |
ClinGen Ensembl |
|
|
CA1038805 rs375944482 |
789 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs997686000 CA30294736 |
789 | K>I | No |
ClinGen TOPMed |
|
|
CA30294734 rs755759589 |
790 | K>Q | No |
ClinGen gnomAD |
|
| rs1557794075 | 790 | K>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 791 | K>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q9UKF2
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| external side of plasma membrane | The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| late endosome membrane | The lipid bilayer surrounding a late endosome. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| sperm head plasma membrane | The plasma membrane that is part of the head section of a sperm cell. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| metalloendopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions. |
| metallopeptidase activity | Catalysis of the hydrolysis of peptide bonds by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions. |
| zinc ion binding | Binding to a zinc ion (Zn). |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| proteolysis | The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q99965 | ADAM2 | Disintegrin and metalloproteinase domain-containing protein 2 | Homo sapiens (Human) | PR |
| Q8TC27 | ADAM32 | Disintegrin and metalloproteinase domain-containing protein 32 | Homo sapiens (Human) | PR |
| O43506 | ADAM20 | Disintegrin and metalloproteinase domain-containing protein 20 | Homo sapiens (Human) | PR |
| Q9H013 | ADAM19 | Disintegrin and metalloproteinase domain-containing protein 19 | Homo sapiens (Human) | PR |
| O35674 | Adam19 | Disintegrin and metalloproteinase domain-containing protein 19 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRSVQIFLSQ | CRLLLLLVPT | MLLKSLGEDV | IFHPEGEFDS | YEVTIPEKLS | FRGEVQGVVS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PVSYLLQLKG | KKHVLHLWPK | RLLLPRHLRV | FSFTEHGELL | EDHPYIPKDC | NYMGSVKESL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DSKATISTCM | GGLRGVFNID | AKHYQIEPLK | ASPSFEHVVY | LLKKEQFGNQ | VCGLSDDEIE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| WQMAPYENKA | RLRDFPGSYK | HPKYLELILL | FDQSRYRFVN | NNLSQVIHDA | ILLTGIMDTY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FQDVRMRIHL | KALEVWTDFN | KIRVGYPELA | EVLGRFVIYK | KSVLNARLSS | DWAHLYLQRK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YNDALAWSFG | KVCSLEYAGS | VSTLLDTNIL | APATWSAHEL | GHAVGMSHDE | QYCQCRGRLN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CIMGSGRTGF | SNCSYISFFK | HISSGATCLN | NIPGLGYVLK | RCGNKIVEDN | EECDCGSTEE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CQKDRCCQSN | CKLQPGANCS | IGLCCHDCRF | RPSGYVCRQE | GNECDLAEYC | DGNSSSCPND |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VYKQDGTPCK | YEGRCFRKGC | RSRYMQCQSI | FGPDAMEAPS | ECYDAVNLIG | DQFGNCEITG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| IRNFKKCESA | NSICGRLQCI | NVETIPDLPE | HTTIISTHLQ | AENLMCWGTG | YHLSMKPMGI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PDLGMINDGT | SCGEGRVCFK | KNCVNSSVLQ | FDCLPEKCNT | RGVCNNRKNC | HCMYGWAPPF |
| 670 | 680 | 690 | 700 | 710 | 720 |
| CEEVGYGGSI | DSGPPGLLRG | AIPSSIWVVS | IIMFRLILLI | LSVVFVFFRQ | VIGNHLKPKQ |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EKMPLSKAKT | EQEESKTKTV | QEESKTKTGQ | EESEAKTGQE | ESKAKTGQEE | SKANIESKRP |
| KAKSVKKQKK |