Q8TF61
PR
Gene name |
FBXO41 (FBX41, KIAA1940) |
Protein name |
F-box only protein 41 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:150726 |
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 Q8TF61
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8TF61-F1 | Predicted | AlphaFoldDB |
746 variants for Q8TF61
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1421892734 CA347248645 |
3 | S>L | No |
ClinGen TOPMed |
|
|
CA49855835 rs976400003 |
5 | D>A | No |
ClinGen TOPMed |
|
|
rs781541324 CA1712288 |
5 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA347248521 rs1574386891 |
9 | R>L | No |
ClinGen Ensembl |
|
|
rs1414001865 CA347248472 |
11 | P>H | No |
ClinGen TOPMed |
|
|
CA347248452 rs1456865867 |
12 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1456865867 CA347248459 |
12 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA347248398 rs1400510890 |
14 | G>A | No |
ClinGen TOPMed |
|
|
rs1338379217 CA347248256 COSM1136726 |
20 | R>Q | kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA347248261 rs1300007576 |
20 | R>W | No |
ClinGen TOPMed |
|
| TCGA novel | 23 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1232150116 CA347248204 |
23 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1232150116 CA347248206 |
23 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1377202163 CA347248127 |
29 | L>V | No |
ClinGen gnomAD |
|
|
rs1430853256 CA347248073 |
32 | S>R | No |
ClinGen gnomAD |
|
|
CA347248060 rs1248994978 |
33 | H>R | No |
ClinGen gnomAD |
|
|
rs866833996 CA49855829 |
35 | Y>* | No |
ClinGen Ensembl |
|
|
rs1310051763 CA347248018 |
36 | E>G | No |
ClinGen gnomAD |
|
|
CA347248000 rs1463225356 |
37 | T>M | No |
ClinGen gnomAD |
|
|
rs1289208030 CA347247969 |
40 | I>V | No |
ClinGen TOPMed |
|
|
CA347247876 rs1354546988 |
47 | I>V | No |
ClinGen TOPMed |
|
|
rs1244600619 CA347247865 |
48 | C>R | No |
ClinGen gnomAD |
|
|
CA347247850 rs1261590436 |
49 | D>N | No |
ClinGen TOPMed |
|
|
CA347247837 rs1574386779 |
50 | G>A | No |
ClinGen Ensembl |
|
| TCGA novel | 51 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347247830 rs1229465846 |
52 | A>T | No |
ClinGen gnomAD |
|
|
rs1053992817 CA49855826 |
52 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1712283 rs758797317 |
53 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA347247815 rs1432636624 |
53 | A>T | No |
ClinGen gnomAD |
|
|
CA347247809 rs758797317 |
53 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA347247804 rs936828793 |
54 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA49855825 rs936828793 |
54 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs752300998 CA1712282 |
54 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381642548 CA347247794 |
55 | A>P | No |
ClinGen TOPMed |
|
|
rs1350589236 CA347247762 |
57 | A>G | No |
ClinGen TOPMed |
|
|
CA347247734 rs1170928395 |
59 | A>V | No |
ClinGen gnomAD |
|
|
rs1171771878 CA347247681 |
63 | G>E | No |
ClinGen gnomAD |
|
|
CA347247685 rs1335301292 |
63 | G>R | No |
ClinGen TOPMed |
|
|
rs1034121398 CA49855805 |
65 | P>L | No |
ClinGen TOPMed |
|
|
rs1002768176 CA49855804 |
66 | L>Q | No |
ClinGen TOPMed |
|
|
rs907100179 CA49855802 |
69 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA347247570 rs1203375662 |
72 | A>G | No |
ClinGen TOPMed |
|
|
rs1343524724 CA347247577 |
72 | A>T | No |
ClinGen TOPMed |
|
|
CA49855800 rs1009979196 |
73 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA49855797 rs892425684 |
75 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA347247553 rs892425684 |
75 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA347247539 rs1198980418 |
77 | P>R | No |
ClinGen TOPMed |
|
|
rs1054291096 CA49855794 |
77 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA347247536 rs1253401482 |
78 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA347247537 rs1253401482 |
78 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs754684303 CA1712270 |
79 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA347247526 rs1226160252 |
80 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA49855790 rs936712741 |
80 | R>L | No |
ClinGen TOPMed |
|
|
CA347247523 rs936712741 |
80 | R>P | No |
ClinGen TOPMed |
|
|
CA347247518 rs1361306944 |
81 | R>L | No |
ClinGen gnomAD |
|
|
rs900021770 CA49855788 |
83 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1302834869 CA347247392 |
90 | Q>K | No |
ClinGen TOPMed |
|
|
rs1340123438 CA347247387 |
90 | Q>R | No |
ClinGen gnomAD |
|
|
CA347247363 rs1387380162 |
91 | G>D | No |
ClinGen TOPMed |
|
|
rs1307947324 CA347247326 |
93 | E>G | No |
ClinGen gnomAD |
|
|
rs1371318436 CA347247334 |
93 | E>K | No |
ClinGen gnomAD |
|
|
CA347247296 rs753487798 |
95 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1712269 rs753487798 |
95 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1712268 rs765936173 |
96 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs765936173 CA347247287 |
96 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA49855784 rs765936173 |
96 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA347247283 rs1472226565 |
97 | G>R | No |
ClinGen gnomAD |
|
|
rs1472226565 CA347247285 |
97 | G>W | No |
ClinGen gnomAD |
|
|
CA347247265 rs1366354002 |
98 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA347247267 rs1366354002 |
98 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1320490271 CA347247271 |
98 | P>S | No |
ClinGen TOPMed |
|
|
rs944301444 CA49855781 |
100 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA347247238 rs1490830406 |
101 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA347247233 rs1290270052 |
102 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA347247232 rs1290270052 |
102 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1198666199 CA347247229 |
102 | A>V | No |
ClinGen TOPMed |
|
|
CA1712265 rs767540664 |
103 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA347247155 rs1282640349 |
108 | H>P | No |
ClinGen gnomAD |
|
|
rs1478659941 CA347247145 |
109 | H>N | No |
ClinGen TOPMed |
|
|
rs1264638415 CA347247137 |
109 | H>P | No |
ClinGen gnomAD |
|
|
rs1351158591 CA347247111 |
111 | H>Y | No |
ClinGen gnomAD |
|
|
rs929634537 CA49855774 |
112 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA347247074 rs1408486187 |
113 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA347247069 rs1285908381 |
114 | P>A | No |
ClinGen gnomAD |
|
|
rs1324541657 CA347247059 |
115 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1324541657 CA347247058 |
115 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1472739316 CA347247018 |
119 | P>L | No |
ClinGen gnomAD |
|
|
rs1159910979 CA347247019 |
119 | P>S | No |
ClinGen gnomAD |
|
|
CA347247015 rs1410537231 |
120 | G>S | No |
ClinGen gnomAD |
|
|
CA347247000 rs1179423463 |
122 | L>V | No |
ClinGen gnomAD |
|
|
CA347246975 rs1247222379 |
126 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA347246972 rs1198161004 |
126 | S>R | No |
ClinGen gnomAD |
|
|
CA347246966 rs1337657200 |
127 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs964278391 CA49855769 |
128 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1456909337 CA347246965 |
128 | P>T | No |
ClinGen gnomAD |
|
|
CA347246937 rs1330108565 |
131 | E>D | No |
ClinGen gnomAD |
|
|
CA49855767 rs1017137864 |
133 | A>P | No |
ClinGen Ensembl |
|
|
rs867330865 CA49855766 |
133 | A>V | No |
ClinGen Ensembl |
|
|
rs1266676177 CA347246911 |
136 | G>S | No |
ClinGen TOPMed |
|
|
CA347246898 rs1221133272 |
138 | V>E | No |
ClinGen TOPMed |
|
|
CA1712262 rs765233931 CA1712263 |
138 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329676530 CA347246893 |
139 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA347246883 rs1387472746 |
141 | A>T | No |
ClinGen gnomAD |
|
|
CA49855762 rs887095534 |
141 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1368425733 CA347246857 |
145 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA347246850 rs1425334511 |
146 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1171905241 CA347246847 |
146 | A>V | No |
ClinGen gnomAD |
|
|
CA347246841 rs1477023555 |
148 | R>C | No |
ClinGen gnomAD |
|
|
CA49855759 rs1047020727 |
149 | E>D | No |
ClinGen gnomAD |
|
|
CA347246827 rs1465459160 |
150 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA49855758 rs1003562137 |
151 | E>D | No |
ClinGen Ensembl |
|
|
rs1207121544 CA347246821 |
151 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 152 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1424039929 CA347246795 |
155 | G>R | No |
ClinGen TOPMed |
|
|
rs1553384219 CA347246783 |
156 | E>D | No |
ClinGen Ensembl |
|
|
CA347246785 rs1219119646 |
156 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA347246788 rs1159341226 |
156 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 159 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA49855753 rs866645367 |
160 | R>H | No |
ClinGen TOPMed |
|
|
rs866645367 CA347246758 |
160 | R>L | No |
ClinGen TOPMed |
|
|
CA347246746 rs1396220741 |
162 | S>F | No |
ClinGen TOPMed |
|
|
rs1300202904 CA347246741 |
163 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1300202904 CA347246743 |
163 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1712260 rs151107579 |
164 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347246733 rs151107579 |
164 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347246727 rs1265753111 |
165 | S>F | No |
ClinGen gnomAD |
|
|
rs892477964 CA49855750 |
166 | S>L | No |
ClinGen TOPMed |
|
|
CA347246715 rs1213613424 |
168 | C>S | No |
ClinGen TOPMed |
|
|
CA347246696 rs1359205001 |
170 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA347246694 rs771050782 |
171 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771050782 CA1712259 |
171 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347246682 rs1169215163 |
173 | P>S | No |
ClinGen gnomAD |
|
|
rs1448626297 CA347246677 |
174 | G>S | No |
ClinGen gnomAD |
|
|
CA347246667 rs1574386115 |
175 | P>L | No |
ClinGen Ensembl |
|
|
rs1179331059 CA347246665 |
176 | G>R | No |
ClinGen TOPMed |
|
|
CA347246656 rs1350716100 |
177 | P>L | No |
ClinGen gnomAD |
|
|
CA49855748 rs562660663 |
177 | P>S | No |
ClinGen 1000Genomes |
|
|
CA49855746 rs1045165121 |
179 | P>A | No |
ClinGen Ensembl |
|
|
CA1712258 rs747438646 |
179 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1032321777 CA49855744 |
181 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 181 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1712255 rs772669630 |
183 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773423316 CA1712256 |
183 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs539520944 CA1712254 |
185 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1341872822 CA347246609 |
186 | A>S | No |
ClinGen gnomAD |
|
|
CA347246600 rs1295915113 |
187 | S>L | No |
ClinGen gnomAD |
|
|
rs1229636896 CA347246597 |
188 | P>S | No |
ClinGen gnomAD |
|
|
rs1301682847 CA347246588 |
189 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA347246584 rs1445166516 |
190 | S>Y | No |
ClinGen gnomAD |
|
|
CA347246580 rs867674601 |
191 | P>A | No |
ClinGen gnomAD |
|
|
CA347246577 rs1429072478 |
191 | P>L | No |
ClinGen gnomAD |
|
|
CA49855735 rs867674601 |
191 | P>S | No |
ClinGen gnomAD |
|
|
rs1425726355 CA347246566 |
193 | P>R | No |
ClinGen gnomAD |
|
|
rs1166677135 CA347246570 |
193 | P>S | No |
ClinGen gnomAD |
|
|
CA347246546 rs1306135239 |
196 | V>A | No |
ClinGen TOPMed |
|
|
rs1414807927 CA347246549 |
196 | V>M | No |
ClinGen gnomAD |
|
|
CA347246544 rs1181565673 |
197 | A>T | No |
ClinGen gnomAD |
|
|
CA347246513 rs1434706788 |
201 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1712251 rs748803226 |
203 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748803226 CA347246499 |
203 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347246497 rs1483034178 |
204 | R>C | No |
ClinGen gnomAD |
|
|
rs867259286 CA49855731 |
204 | R>H | No |
ClinGen Ensembl |
|
|
rs1224240536 CA347246482 |
206 | K>R | No |
ClinGen gnomAD |
|
|
CA347246469 rs1322768514 |
208 | R>L | No |
ClinGen gnomAD |
|
|
rs1311552811 CA347246466 |
209 | A>T | No |
ClinGen gnomAD |
|
|
CA347246461 rs1226301989 |
209 | A>V | No |
ClinGen gnomAD |
|
|
CA347246459 rs1456341474 |
210 | L>V | No |
ClinGen Ensembl |
|
|
CA347246452 rs1288460572 |
211 | E>A | No |
ClinGen gnomAD |
|
|
CA347246421 rs1574385892 |
215 | V>G | No |
ClinGen Ensembl |
|
|
rs1295004951 CA347246426 |
215 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA347246416 rs1349149401 |
216 | D>G | No |
ClinGen gnomAD |
|
|
rs1458220901 CA347246420 |
216 | D>N | No |
ClinGen gnomAD |
|
|
rs891255978 CA49855729 |
217 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA347246409 rs891255978 |
217 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA347246406 rs1183017076 |
218 | R>Q | No |
ClinGen gnomAD |
|
|
rs935934608 CA49855728 |
220 | E>A | No |
ClinGen Ensembl |
|
|
CA347246398 rs1390029139 |
220 | E>Q | No |
ClinGen gnomAD |
|
|
rs568956059 CA1712249 |
221 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 222 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347246367 rs924536091 |
224 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA347246362 rs1574385839 |
225 | E>G | No |
ClinGen Ensembl |
|
|
rs965012129 CA49855724 |
226 | V>G | No |
ClinGen gnomAD |
|
|
CA347246358 rs1574385831 |
226 | V>M | No |
ClinGen Ensembl |
|
|
CA49855722 rs543137431 |
227 | E>G | No |
ClinGen 1000Genomes |
|
|
rs1218868112 CA347246345 |
228 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1426423613 CA347246338 |
229 | K>Q | No |
ClinGen TOPMed |
|
|
rs977469115 CA49855721 |
231 | A>T | No |
ClinGen Ensembl |
|
|
rs1303307347 CA347246249 |
236 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1303307347 CA347246252 |
236 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA347246254 rs1348164291 |
236 | R>W | No |
ClinGen gnomAD |
|
|
rs922337481 CA49855716 |
238 | Q>H | No |
ClinGen Ensembl |
|
|
CA1712246 rs774003291 |
241 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1712245 rs751440729 |
242 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs370389311 CA1712244 |
243 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759674854 CA347246145 |
245 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs759674854 CA1712243 |
245 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA347246067 rs1248257745 COSM1409383 |
251 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1207789662 CA347246060 |
252 | R>G | No |
ClinGen gnomAD |
|
|
rs1347897451 CA347246053 |
252 | R>Q | No |
ClinGen gnomAD |
|
|
rs1207789662 CA347246062 |
252 | R>W | No |
ClinGen gnomAD |
|
|
rs964540386 CA49855708 |
253 | Q>K | No |
ClinGen TOPMed |
|
|
CA49855706 rs1017084514 |
253 | Q>R | No |
ClinGen Ensembl |
|
|
CA1712239 rs760756446 |
254 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311557302 CA347246019 |
255 | S>N | No |
ClinGen gnomAD |
|
|
CA1712238 rs572460859 |
256 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1712237 rs572460859 |
256 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs572460859 CA1712236 |
256 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1219045143 CA347245989 |
258 | L>H | No |
ClinGen TOPMed |
|
|
CA1712235 rs775068132 |
259 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347245983 rs1574385600 |
259 | G>V | No |
ClinGen Ensembl |
|
|
rs1434697050 CA347245975 |
261 | E>K | No |
ClinGen gnomAD |
|
|
CA1712232 rs779383544 |
262 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 262 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347245903 rs1377560023 |
267 | E>K | No |
ClinGen gnomAD |
|
|
rs1391225120 CA347245876 |
269 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1712229 rs781054686 |
269 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1361473872 CA347245855 |
270 | S>F | No |
ClinGen gnomAD |
|
|
CA347245844 rs1444956105 |
271 | E>V | No |
ClinGen gnomAD |
|
|
rs867531332 CA347245820 |
273 | S>C | No |
ClinGen gnomAD |
|
|
rs867531332 CA49855695 |
273 | S>F | No |
ClinGen gnomAD |
|
|
rs757101527 CA1712228 |
274 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA1712226 rs560505878 |
277 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347245776 rs560505878 |
277 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA347245736 rs1227880718 |
280 | V>L | No |
ClinGen gnomAD |
|
|
rs758307520 CA1712225 |
281 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347245723 rs753971206 |
281 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753971206 CA1712224 |
281 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760967860 CA1712222 |
282 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA347245689 rs1371516281 |
284 | A>V | No |
ClinGen gnomAD |
|
|
CA1712220 rs767851169 |
287 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs778143103 CA347245615 |
290 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483352486 CA347245588 |
292 | H>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1207164467 CA347245597 |
292 | H>Y | No |
ClinGen gnomAD |
|
|
rs774834961 CA1712218 |
293 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA347245575 rs1273571815 |
293 | K>R | No |
ClinGen gnomAD |
|
|
CA347245546 rs1358281102 |
295 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1267446097 CA347245510 |
298 | S>N | No |
ClinGen gnomAD |
|
|
CA1712217 rs769311891 |
299 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA1712216 rs763516160 |
300 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs775069000 CA1712215 |
300 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410651305 CA347244728 |
304 | V>M | No |
ClinGen gnomAD |
|
|
CA1712198 rs764485154 |
305 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1712195 rs376058936 |
308 | D>E | No |
ClinGen ESP ExAC TOPMed |
|
|
CA1712196 rs775918372 |
308 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA347244693 rs759005047 |
309 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs759005047 CA1712194 |
309 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA1712191 rs373376404 |
314 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1712188 rs747975609 |
315 | A>T | No |
ClinGen ExAC |
|
|
rs1044357562 CA49855325 |
315 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs369432452 CA1712186 |
316 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1222515730 CA347244650 |
316 | A>T | No |
ClinGen gnomAD |
|
|
COSM1206842 CA1712185 rs369432452 |
316 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs764397181 CA1712182 |
317 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764397181 CA1712181 |
317 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1712183 rs757559847 |
317 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs552984562 CA347244625 |
320 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1592349 CA347244623 rs1344056377 |
321 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA1712178 rs201580699 |
324 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 326 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347244583 rs1204276707 |
327 | Q>R | No |
ClinGen gnomAD |
|
|
CA1712175 rs570506506 |
330 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776146340 CA1712176 |
330 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA347244542 rs1190708603 |
333 | L>F | No |
ClinGen gnomAD |
|
|
CA1712174 rs374245208 |
334 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347244530 rs1444261502 |
335 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1712173 rs772918715 |
335 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA1712172 rs771728071 |
337 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA1712171 rs747946188 |
338 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347244513 rs747946188 |
338 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774146392 CA1712170 |
338 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 338 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369510771 CA1712167 |
340 | E>Q | No |
ClinGen ESP ExAC TOPMed |
|
|
rs569031239 CA1712164 |
341 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1712165 rs747080156 |
341 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1267831679 CA347244492 |
342 | Q>* | No |
ClinGen gnomAD |
|
|
CA1712163 rs758620852 |
344 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA347244293 rs753022819 |
345 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs753022819 CA1712162 |
345 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs765594458 CA1712161 |
349 | S>G | No |
ClinGen ExAC |
|
|
COSM3407971 rs755442872 CA1712160 |
353 | T>M | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 354 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372629043 CA49855299 |
355 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1592351 CA1712157 rs367737020 |
356 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1438385327 CA347244125 |
357 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 358 | L>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772690981 CA1712156 |
358 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs767099341 CA1712155 |
360 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374767626 CA1712154 |
360 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1712153 rs774022165 |
363 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347244049 rs774022165 |
363 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768442301 CA1712152 |
364 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769822558 CA347244022 |
365 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs775634567 CA1712150 |
365 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769822558 CA1712149 |
365 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA1712147 rs371783822 |
367 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs562151414 CA1712146 |
368 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1712145 rs200330670 |
372 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1712143 rs755439932 |
372 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200330670 CA1712144 |
372 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1712142 rs763994092 |
374 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763994092 CA347243911 |
374 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347243896 rs1461280742 |
375 | G>D | No |
ClinGen gnomAD |
|
|
CA347243875 rs1352592533 |
377 | M>L | No |
ClinGen gnomAD |
|
|
CA347243777 rs1459931518 |
378 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs759503367 CA1712128 |
378 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1419023449 CA347243732 |
380 | H>R | No |
ClinGen gnomAD |
|
|
rs1160430780 CA347243735 |
380 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA49855180 rs773561880 |
382 | V>M | No |
ClinGen Ensembl |
|
|
rs992507191 CA49855179 |
383 | G>D | No |
ClinGen TOPMed |
|
|
rs374564267 CA1712125 |
384 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 384 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465834824 CA347243638 |
385 | A>V | No |
ClinGen gnomAD |
|
|
rs749679533 CA1712122 |
386 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347243602 rs1315072749 |
388 | N>K | No |
ClinGen gnomAD |
|
|
rs780356443 CA1712121 |
389 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1712120 rs756618072 |
389 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA347243588 rs1247932420 |
390 | Y>H | No |
ClinGen TOPMed |
|
|
rs377495186 CA1712117 |
393 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1712115 rs763855305 |
394 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1712116 rs372703017 |
394 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752566790 CA1712113 |
395 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1454964145 CA347243477 |
396 | G>D | No |
ClinGen gnomAD |
|
|
rs1178941292 CA347243485 |
396 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs552940289 CA1712112 |
397 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347243442 rs759556715 |
398 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs759556715 CA1712111 |
398 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA1712110 rs370347198 |
399 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347243424 rs370347198 |
399 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1417287918 CA347243257 |
403 | A>D | No |
ClinGen gnomAD |
|
|
rs752335857 CA347243260 |
403 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1712095 rs752335857 |
403 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1712094 rs764967523 |
404 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs887468497 CA49855082 |
404 | S>P | No |
ClinGen TOPMed |
|
|
rs143726968 CA1712092 |
406 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1337708778 CA347243198 |
406 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA49855079 rs985881476 |
407 | V>L | No |
ClinGen Ensembl |
|
|
CA347243172 rs1275060467 |
408 | P>L | No |
ClinGen gnomAD |
|
|
rs867806835 CA49855077 |
408 | P>S | No |
ClinGen Ensembl |
|
|
rs760493770 CA1712090 |
410 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA347243140 rs1453288836 |
410 | A>V | No |
ClinGen TOPMed |
|
|
rs962295659 CA49855072 |
413 | S>G | No |
ClinGen Ensembl |
|
|
CA49855069 rs894891432 |
414 | S>P | No |
ClinGen TOPMed |
|
|
CA49855067 rs34286430 |
415 | G>S | No |
ClinGen Ensembl |
|
|
rs1328632279 CA347242998 |
417 | Y>C | No |
ClinGen gnomAD |
|
|
CA49855065 rs1015595709 |
418 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA347242971 rs1461933503 |
419 | S>G | No |
ClinGen gnomAD |
|
|
rs1392423215 CA347242923 |
423 | E>K | No |
ClinGen gnomAD |
|
|
CA347242905 rs923742843 |
424 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs775758055 CA1712086 |
425 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA347242889 rs775758055 |
425 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA347242873 rs1470483785 |
427 | P>T | No |
ClinGen gnomAD |
|
|
CA347242859 rs1362949339 |
428 | E>Q | No |
ClinGen gnomAD |
|
|
rs746289629 CA1712084 |
429 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA347242826 rs1255109825 |
430 | G>E | No |
ClinGen gnomAD |
|
|
rs1453182461 CA347242834 |
430 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1712083 rs776808388 |
431 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468067979 CA347242811 |
432 | P>A | No |
ClinGen gnomAD |
|
|
CA49855057 rs879431027 |
432 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1291082401 CA347242760 |
436 | G>V | No |
ClinGen TOPMed |
|
|
CA347242757 rs1279553404 |
437 | P>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 437 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 438 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1373704950 CA347242730 |
439 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA347242729 rs1373704950 |
439 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1439746210 CA347242716 |
440 | L>F | No |
ClinGen gnomAD |
|
|
CA1712081 rs747408382 |
440 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA1712080 rs777438782 |
441 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA347242714 rs777438782 |
441 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA1712077 rs778758673 |
442 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA1712078 rs747654482 |
442 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1712076 rs202034915 |
443 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347242678 rs370034444 |
443 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1712074 rs370034444 |
443 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202034915 CA1712075 |
443 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347242674 rs1395502254 |
444 | A>T | No |
ClinGen gnomAD |
|
|
rs750421544 CA1712072 |
444 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs767441241 CA1712071 |
445 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA1712070 rs763063450 |
445 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA49855043 rs990142562 |
446 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 447 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1218050020 CA347242627 |
448 | N>H | No |
ClinGen gnomAD |
|
|
rs201133145 CA1712068 |
448 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1712066 CA347242622 rs200329901 |
449 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1404694271 CA347242614 |
450 | G>C | No |
ClinGen gnomAD |
|
|
rs1558584321 CA347242586 |
451 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs772685919 CA1712062 |
453 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1712063 rs374994006 |
453 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1712061 rs526106 |
454 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778527502 CA1712060 |
456 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778527502 CA49855034 |
456 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs865898892 CA49855032 |
457 | P>H | No |
ClinGen gnomAD |
|
|
rs865898892 CA347242489 |
457 | P>L | No |
ClinGen gnomAD |
|
|
rs1430809495 CA347242498 |
457 | P>S | No |
ClinGen gnomAD |
|
|
rs368356682 CA1712059 |
458 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347242482 rs112308492 |
458 | R>H | No |
ClinGen gnomAD |
|
|
CA49855030 rs112308492 |
458 | R>L | No |
ClinGen gnomAD |
|
|
CA347242480 rs112308492 |
458 | R>P | No |
ClinGen gnomAD |
|
|
rs1375789482 CA347242446 |
460 | S>L | No |
ClinGen gnomAD |
|
|
CA347242443 rs1434270492 |
461 | G>R | No |
ClinGen gnomAD |
|
|
rs748839243 CA1712058 |
461 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1214938768 CA347242425 |
462 | L>P | No |
ClinGen TOPMed |
|
|
rs200871330 CA1712056 |
463 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1712057 rs374143533 |
463 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3764862 rs199960192 CA1712055 RCV001001918 |
464 | R>C | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs375457673 COSM1306983 CA1712054 |
464 | R>H | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA347242399 rs375457673 |
464 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347242375 rs1473062109 |
466 | A>T | No |
ClinGen TOPMed |
|
|
CA347242367 rs1486948491 |
466 | A>V | No |
ClinGen gnomAD |
|
|
CA347242353 rs757134537 |
467 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1346240847 CA347242339 |
468 | Q>H | No |
ClinGen gnomAD |
|
|
CA347242344 rs1210610469 |
468 | Q>R | No |
ClinGen gnomAD |
|
|
CA347242298 rs1274652457 |
471 | Q>R | No |
ClinGen gnomAD |
|
|
CA1712052 rs370031029 COSM1592353 |
472 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs370275219 CA1712051 |
472 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA49855021 rs1026811546 |
473 | R>S | No |
ClinGen Ensembl |
|
|
CA49855019 rs908113664 |
474 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1712050 rs202215539 |
475 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1712049 rs754064440 COSM3695595 |
475 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs946650881 CA49855013 |
476 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA1712047 rs200442553 |
476 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1172747272 CA347242220 |
478 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1712045 rs772738791 |
479 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA49855010 rs980112521 |
480 | E>Q | No |
ClinGen Ensembl |
|
|
CA1712043 rs774012541 |
481 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA347242176 rs1050069267 CA347242177 |
481 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1050069267 CA49855008 |
481 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA1712041 rs748830200 |
482 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000660571 rs748830200 CA49855005 |
482 | E>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1234993779 CA347242159 |
482 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA347242141 CA1712040 rs779616735 |
483 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204722978 CA347242147 |
483 | E>G | No |
ClinGen gnomAD |
|
|
rs769468394 CA1712039 |
484 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA347242124 rs1234591792 |
485 | D>N | No |
ClinGen gnomAD |
|
|
CA347242119 rs1334969157 |
485 | D>V | No |
ClinGen gnomAD |
|
|
CA1712038 rs745683309 |
486 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs375412839 CA347242078 |
488 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1592355 rs757187429 CA1712036 |
488 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA49854998 rs757187429 |
488 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1712033 rs755079022 |
489 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755079022 CA347242069 |
489 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764954137 CA1712034 |
489 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753921687 CA1712032 |
490 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs766534244 CA1712031 |
492 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA1712030 rs750822634 |
492 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1712029 rs750822634 |
492 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347241982 rs1173305778 |
497 | E>K | No |
ClinGen TOPMed |
|
|
rs1574381503 CA347241967 |
498 | A>T | No |
ClinGen Ensembl |
|
|
rs762259640 CA1712027 |
498 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377555341 CA1712026 |
499 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769178187 COSM2998336 CA1712025 |
501 | P>L | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs769178187 CA347241920 |
501 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312832947 CA347241926 |
501 | P>S | No |
ClinGen TOPMed |
|
|
CA1712022 rs769360378 |
504 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs188487265 CA1712021 |
504 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347241863 rs1430507971 |
505 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs770770558 CA1712019 |
505 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199920424 CA1712017 |
506 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1712016 rs534854964 |
506 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347241840 rs534854964 |
506 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347241821 rs1437505237 |
507 | P>R | No |
ClinGen TOPMed |
|
|
CA1712013 rs756419839 COSM1592357 |
508 | G>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA49854979 rs956554328 |
509 | P>L | No |
ClinGen Ensembl |
|
|
rs750732664 CA1712012 |
509 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA347241785 rs1347463864 |
510 | A>T | No |
ClinGen gnomAD |
|
|
CA1712011 rs767852948 |
511 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA49854978 rs1010748962 |
511 | M>V | No |
ClinGen TOPMed |
|
|
rs1418826367 CA347241744 |
512 | A>P | No |
ClinGen gnomAD |
|
|
CA347241725 rs1378881985 |
513 | G>E | No |
ClinGen gnomAD |
|
|
rs1454455373 CA347241709 |
514 | P>S | No |
ClinGen gnomAD |
|
|
rs1393829143 CA347241669 |
516 | S>N | No |
ClinGen TOPMed |
|
|
CA1712007 rs763474126 |
517 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1323832649 CA347241612 |
518 | C>W | No |
ClinGen TOPMed |
|
|
rs201488663 CA1712005 |
519 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774864912 CA1712006 |
519 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1711982 rs772897926 |
522 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA1711981 rs772897926 |
522 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs771960976 CA1711980 |
523 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1711979 rs61733550 |
523 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1711976 rs745969676 |
524 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs768696788 CA1711977 |
524 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs370256664 CA1711973 |
525 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA49854751 rs982577424 |
527 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs200040373 CA1711971 |
530 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377592538 CA1711972 COSM1242274 |
530 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs1316193888 CA347240530 |
531 | G>D | No |
ClinGen gnomAD |
|
|
rs1218075531 CA347240537 |
531 | G>S | No |
ClinGen gnomAD |
|
|
CA1711968 rs749845167 |
532 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779443682 CA1711969 |
532 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1332626999 CA347240517 |
533 | R>G | No |
ClinGen gnomAD |
|
|
CA1711967 rs187317553 |
533 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347240499 rs750158557 |
534 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA1711965 rs760091020 |
534 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1711964 rs750158557 |
534 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1463589560 CA347240495 |
535 | E>K | No |
ClinGen gnomAD |
|
|
rs1419445191 CA347240459 |
537 | V>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 537 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1711963 rs767050254 |
538 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA1711962 rs541815872 |
538 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs541815872 CA49854738 |
538 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1366429044 CA347240433 |
539 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1711961 rs774242101 |
539 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1366429044 CA347240431 |
539 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1711960 rs753891746 |
541 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000660572 CA1711959 rs748513064 |
541 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs767419723 CA49854733 |
542 | S>P | No |
ClinGen Ensembl |
|
|
CA1711958 rs776862486 |
543 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA347240381 rs1456468399 |
543 | N>S | No |
ClinGen gnomAD |
|
|
rs1214800384 CA347240371 |
544 | E>K | No |
ClinGen gnomAD |
|
|
CA1711957 rs554669277 |
547 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1558582844 CA347240302 |
548 | P>T | No |
ClinGen Ensembl |
|
| TCGA novel | 549 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA49854730 rs999146547 |
550 | I>T | No |
ClinGen Ensembl |
|
|
CA347240168 COSM1592359 rs1241611726 |
554 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs747052690 CA1711956 |
554 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA347240132 rs1308041840 |
556 | A>S | No |
ClinGen gnomAD |
|
|
rs778095813 CA1711955 |
556 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA49854726 rs906611478 |
559 | C>Y | No |
ClinGen TOPMed |
|
|
CA49854724 rs891391428 |
561 | F>L | No |
ClinGen TOPMed |
|
|
rs1574379921 CA347240017 |
562 | T>P | No |
ClinGen Ensembl |
|
|
rs1460522838 CA347239932 |
566 | T>M | No |
ClinGen gnomAD |
|
|
CA1711953 rs748532369 |
567 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1711952 rs376429714 |
567 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754402633 CA1711950 |
569 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA347239878 rs1254897920 |
570 | L>P | No |
ClinGen gnomAD |
|
|
CA1711949 rs780534300 |
571 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA1711946 rs368878130 |
574 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374997955 CA1711945 |
577 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1207456904 CA347239739 |
577 | R>W | No |
ClinGen gnomAD |
|
|
CA1711943 rs369631004 |
578 | D>H | No |
ClinGen ESP ExAC |
|
|
rs762826333 CA1711942 |
580 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs572663604 CA1711941 |
580 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1303763589 CA347239650 |
581 | F>V | No |
ClinGen gnomAD |
|
|
rs142820235 CA49854710 |
582 | V>M | Variant assessed as Somatic; 4.642e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP NCI-TCGA gnomAD |
|
rs1320160182 CA347239610 |
583 | A>T | No |
ClinGen gnomAD |
|
|
rs538832777 CA1711939 |
584 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772369672 CA1711937 COSM1721935 |
587 | A>T | Variant assessed as Somatic; 0.0 impact. NS [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1436428460 CA347239448 |
590 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 591 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1574379709 CA347239427 |
592 | V>G | No |
ClinGen Ensembl |
|
|
rs371994505 CA1711935 |
592 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749622243 CA1711933 |
595 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1711932 rs780664211 |
598 | R>H | Variant assessed as Somatic; 4.642e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA49854701 rs928538970 |
599 | V>A | No |
ClinGen Ensembl |
|
|
CA347239329 rs1448083007 |
600 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 604 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1355804147 CA347239101 |
606 | M>I | No |
ClinGen gnomAD |
|
|
CA1711916 rs768844602 |
606 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA1711917 rs774596387 |
606 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302066755 CA347239084 |
608 | A>T | No |
ClinGen gnomAD |
|
|
CA1711915 rs749679446 |
610 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331183619 CA347238977 |
612 | T>I | No |
ClinGen gnomAD |
|
|
CA1711914 rs775681337 |
612 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA347238914 rs1399684517 |
615 | H>Y | No |
ClinGen gnomAD |
|
|
rs770342039 CA1711913 |
617 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs746306738 CA1711912 |
618 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370646507 CA347238857 |
618 | T>S | No |
ClinGen TOPMed |
|
|
rs1456903521 CA347238826 |
620 | Q>* | No |
ClinGen gnomAD |
|
|
CA347238816 rs1255636155 |
620 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 622 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1711909 rs746483059 |
625 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs766156786 CA49854645 |
625 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1226374041 CA347238750 |
626 | Q>* | No |
ClinGen gnomAD |
|
|
CA1711908 rs180788657 |
627 | R>Q | Variant assessed as Somatic; 4.817e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1711905 rs778503960 |
628 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758075033 CA1711907 |
628 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1711906 rs778503960 |
628 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs767370426 | 630 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766309798 CA1711901 |
632 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA347238649 rs1488027726 |
633 | K>E | No |
ClinGen TOPMed |
|
|
CA347238609 rs1186929595 |
635 | E>D | No |
ClinGen TOPMed |
|
|
CA1711899 rs761931051 |
637 | A>D | No |
ClinGen ExAC gnomAD |
|
|
COSM1252271 CA1711897 rs202061032 |
638 | R>Q | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1711898 rs574777684 |
638 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs763098902 CA347238564 |
639 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763098902 CA1711896 |
639 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775940284 CA1711895 |
640 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA49854633 rs762776792 |
641 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA1711894 rs770110802 |
641 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 642 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1711858 rs755186485 |
650 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761107025 CA1711855 |
654 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761107025 CA1711856 |
654 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1711854 rs773896714 |
655 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA49854594 rs924360511 CA347238173 |
656 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1574378972 CA347238130 |
658 | N>T | No |
ClinGen Ensembl |
|
|
rs367605676 CA49854592 |
658 | N>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1711849 rs748915973 |
663 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775115355 CA1711848 |
663 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA347238033 rs1486802426 |
664 | I>V | No |
ClinGen TOPMed |
|
|
CA347237926 rs1401227113 |
670 | I>V | No |
ClinGen Ensembl |
|
|
rs1186099309 CA347237876 |
672 | T>I | No |
ClinGen TOPMed |
|
|
CA347237887 rs1574378935 |
672 | T>P | No |
ClinGen Ensembl |
|
|
CA347237871 rs1169821595 |
673 | D>N | No |
ClinGen gnomAD |
|
|
CA49854585 rs964274802 |
674 | R>C | No |
ClinGen Ensembl |
|
|
CA1711846 rs745628191 COSM1409380 |
674 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA49854582 rs988251743 |
675 | S>L | No |
ClinGen TOPMed |
|
|
CA347237814 rs1423092625 |
676 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs755167095 CA1711841 |
680 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA347237618 rs1258802080 |
684 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1711839 rs766703053 |
684 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA1711840 rs766703053 |
684 | R>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 686 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750769586 CA1711837 |
690 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1308159070 CA347237424 |
693 | S>N | No |
ClinGen gnomAD |
|
|
CA347237389 rs1443892528 |
695 | T>A | No |
ClinGen gnomAD |
|
|
CA347237376 rs1332343877 |
695 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA347237341 rs1324085589 |
697 | P>L | No |
ClinGen gnomAD |
|
|
CA1711820 rs368371379 |
698 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347237320 rs1160073582 |
699 | G>C | No |
ClinGen gnomAD |
|
|
CA347237324 rs1160073582 |
699 | G>S | No |
ClinGen gnomAD |
|
|
CA1711819 rs750824371 |
699 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA347237310 rs1158324172 |
700 | H>Y | No |
ClinGen gnomAD |
|
|
CA1711817 rs757552242 |
702 | V>I | No |
ClinGen ExAC |
|
|
rs1248559661 CA347237264 |
703 | I>M | No |
ClinGen gnomAD |
|
|
rs1200113475 CA347237252 |
704 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 705 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1039811394 CA49854494 |
707 | G>A | No |
ClinGen Ensembl |
|
|
rs1265948540 CA347237208 |
708 | A>T | No |
ClinGen gnomAD |
|
|
CA49854492 rs867787701 |
711 | R>I | No |
ClinGen Ensembl |
|
|
CA49854491 rs867212128 |
712 | E>* | No |
ClinGen Ensembl |
|
|
rs762495721 CA1711814 |
714 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA49854490 rs942896087 |
715 | S>F | No |
ClinGen gnomAD |
|
|
CA347237086 rs1231966161 |
718 | V>M | No |
ClinGen gnomAD |
|
|
CA1711812 rs764899361 |
719 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs776302925 CA1711810 |
724 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA347263585 rs1474002829 |
726 | Q>* | No |
ClinGen gnomAD |
|
|
CA347263566 rs1239912088 |
729 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1239912088 CA347263567 |
729 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs912156717 CA49853421 |
729 | R>H | No |
ClinGen TOPMed |
|
|
CA1711794 rs752206156 |
731 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1440156085 CA347263542 |
732 | N>K | No |
ClinGen gnomAD |
|
|
rs764668422 CA1711793 |
732 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1711791 rs755363542 |
733 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1711792 rs755363542 |
733 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1711790 rs765916084 |
733 | R>H | Variant assessed as Somatic; 6.094e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA347263501 rs1256149515 |
738 | I>F | No |
ClinGen gnomAD |
|
|
rs1379678430 CA347263483 |
740 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1284947810 CA347263480 |
740 | R>H | No |
ClinGen gnomAD |
|
|
CA347263471 rs1447584689 |
741 | C>F | No |
ClinGen gnomAD |
|
|
CA347263469 rs1447584689 |
741 | C>Y | No |
ClinGen gnomAD |
|
|
CA1711787 rs772141532 |
743 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA347263438 rs1574376126 |
744 | H>P | No |
ClinGen Ensembl |
|
|
CA49853417 rs868335347 |
746 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs868335347 CA347263423 |
746 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA49853418 rs1027724234 |
746 | R>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 747 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1415018559 CA347263405 |
748 | L>P | No |
ClinGen gnomAD |
|
|
rs774419963 CA1711785 |
749 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs774419963 CA49853415 |
749 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs962137864 CA49853413 |
750 | V>F | No |
ClinGen TOPMed |
|
|
CA49853414 rs962137864 |
750 | V>I | No |
ClinGen TOPMed |
|
|
rs962137864 CA347263394 |
750 | V>L | No |
ClinGen TOPMed |
|
|
rs776965262 CA1711782 |
751 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA347263374 rs1456960405 |
752 | G>A | No |
ClinGen gnomAD |
|
|
CA347263363 rs1223700270 |
753 | A>V | No |
ClinGen gnomAD |
|
|
rs569031158 CA1711779 |
754 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1304356147 CA347263349 |
755 | C>G | No |
ClinGen TOPMed |
|
|
CA347263322 rs1574375993 |
757 | V>G | No |
ClinGen Ensembl |
|
|
rs1357551653 CA347263327 |
757 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1357551653 CA347263330 |
757 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA347263300 rs1311791766 |
761 | A>T | No |
ClinGen gnomAD |
|
|
CA347263297 rs1447580942 |
761 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 762 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347263287 rs1296917171 |
763 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1296917171 CA347263289 |
763 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA347263282 rs1350770240 |
764 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1711769 rs761699672 |
764 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1711767 rs764105116 |
767 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs759679772 CA1711766 |
768 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA49853397 rs865871335 |
769 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA49853395 rs763484568 |
771 | Q>H | No |
ClinGen Ensembl |
|
|
CA1711765 rs776530331 |
772 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1574375722 CA347263202 |
772 | V>G | No |
ClinGen Ensembl |
|
|
rs1485656710 CA347263185 |
774 | E>G | No |
ClinGen gnomAD |
|
|
CA347263163 rs1212294716 |
776 | D>E | No |
ClinGen gnomAD |
|
|
CA347263153 rs1159147252 |
777 | H>R | No |
ClinGen TOPMed |
|
|
CA347263158 rs1312895596 |
777 | H>Y | No |
ClinGen gnomAD |
|
|
CA1711762 rs773407794 |
778 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs772490678 CA1711761 |
780 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs748480982 CA1711760 |
781 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347263084 rs779445655 |
783 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA347263081 rs1359394893 |
784 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA347263079 rs1359394893 |
784 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs369498847 CA1711757 |
785 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA347263064 rs369498847 |
785 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1174100560 CA347263057 |
786 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1711755 rs755638807 |
787 | A>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 788 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1424317743 CA347262997 |
791 | R>G | No |
ClinGen gnomAD |
|
|
rs372612044 CA1711754 |
791 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1424317743 CA347262996 |
791 | R>W | No |
ClinGen gnomAD |
|
|
rs767251521 CA1711753 |
793 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA347262978 rs1416993536 |
793 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA347262947 rs1483594098 |
796 | G>R | No |
ClinGen gnomAD |
|
|
CA1711750 rs528806198 |
798 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA49853393 rs920566626 |
799 | M>I | No |
ClinGen Ensembl |
|
|
CA347262904 rs1382255036 |
799 | M>R | No |
ClinGen TOPMed |
|
|
CA347262891 rs1320623339 |
801 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1711749 rs762728899 |
802 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs750644549 CA1711748 |
803 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs773461135 CA1711745 |
804 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs200703280 COSM1153856 CA1711743 |
807 | V>I | endometrium Variant assessed as Somatic; 4.684e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs774631312 CA1711742 |
808 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1400905263 CA347262694 |
809 | P>L | No |
ClinGen gnomAD |
|
|
rs367717578 CA49853389 |
810 | K>T | No |
ClinGen ESP TOPMed |
|
|
rs367803606 CA49853388 |
811 | A>G | No |
ClinGen Ensembl |
|
|
CA347262673 rs1460230895 |
811 | A>T | No |
ClinGen gnomAD |
|
|
CA1711717 rs368143126 |
818 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758165731 CA1711715 |
819 | C>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs752514254 CA1711714 |
820 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1404062385 CA347262425 |
820 | R>W | No |
ClinGen gnomAD |
|
|
CA1711711 rs750516783 |
824 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA1711710 rs767641457 |
825 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1468702655 CA347262359 |
829 | I>S | No |
ClinGen gnomAD |
|
|
CA347262348 rs1404778180 |
831 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs373913609 CA1711708 |
832 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373913609 CA1711709 |
832 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA49853206 rs1044512636 |
838 | P>A | No |
ClinGen gnomAD |
|
|
rs370814153 CA49853204 |
838 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370814153 CA1711706 |
838 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1202834958 CA347262285 |
840 | S>N | No |
ClinGen gnomAD |
|
|
rs145166005 CA1711704 |
840 | S>R | No |
ClinGen 1000Genomes ExAC |
|
|
rs760066147 CA347262277 |
841 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760066147 CA1711703 |
841 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149178635 CA1711701 |
849 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772791259 CA347262217 |
850 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1711698 rs771707604 |
850 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772791259 CA1711699 |
850 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347262204 rs1317962022 |
852 | T>A | No |
ClinGen gnomAD |
|
|
CA1711697 rs560927594 |
855 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347262153 rs1237762194 |
858 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1459626575 CA347262148 |
859 | R>Q | No |
ClinGen gnomAD |
|
|
rs747059282 CA1711674 |
859 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1711670 rs765528062 |
862 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1711671 rs753033564 |
862 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs754207965 CA347262089 |
868 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1316041519 CA347262092 |
868 | H>R | No |
ClinGen gnomAD |
|
|
rs755445450 CA1711668 |
868 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380719593 CA347262086 |
869 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA347262082 rs1333880748 |
869 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA347262074 rs995905907 |
870 | K>N | No |
ClinGen gnomAD |
|
|
CA1711666 rs767024986 |
871 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1407480791 CA347262058 |
873 | G>C | No |
ClinGen gnomAD |
|
|
rs1385450419 CA347262057 |
873 | G>D | No |
ClinGen gnomAD |
|
|
rs199625082 CA1711664 |
874 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1574373945 CA347262036 |
876 | C>Y | No |
ClinGen Ensembl |
No associated diseases with Q8TF61
1 regional properties for Q8TF61
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | F-box domain | 557 - 594 | IPR001810 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6NS60 | Fbxo41 | F-box only protein 41 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASLDLPYRC | PRCGEHKRFR | SLSSLRAHLE | YSHTYETLYI | LSKTNSICDG | AAAAAAAAAA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ASGFPLAPEP | AALLAVPGAR | REVFESTSFQ | GKEQAAGPSP | AAPHLLHHHH | HHAPLAHFPG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DLVPASLPCE | ELAEPGLVPA | AAARYALREI | EIPLGELFAR | KSVASSACST | PPPGPGPGPC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PGPASASPAS | PSPADVAYEE | GLARLKIRAL | EKLEVDRRLE | RLSEEVEQKI | AGQVGRLQAE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LERKAAELET | ARQESARLGR | EKEELEERAS | ELSRQVDVSV | ELLASLKQDL | VHKEQELSRK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QQEVVQIDQF | LKETAAREAS | AKLRLQQFIE | ELLERADRAE | RQLQVISSSC | GSTPSASLGR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GGGGGGAGPN | ARGPGRMREH | HVGPAVPNTY | AVSRHGSSPS | TGASSRVPAA | SQSSGCYDSD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SLELPRPEEG | APEDSGPGGL | GTRAQAANGG | SERSQPPRSS | GLRRQAIQNW | QRRPRRHSTE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GEEGDVSDVG | SRTTESEAEG | PLDAPRPGPA | MAGPLSSCRL | SARPEGGSGR | GRRAERVSPS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RSNEVISPEI | LKMRAALFCI | FTYLDTRTLL | HAAEVCRDWR | FVARHPAVWT | RVLLENARVC |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SKFLAMLAQW | CTQAHSLTLQ | NLKPRQRGKK | ESKEEYARST | RGCLEAGLES | LLKAAGGNLL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ILRISHCPNI | LTDRSLWLAS | CYCRALQAVT | YRSATDPVGH | EVIWALGAGC | REIVSLQVAP |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LHPCQQPTRF | SNRCLQMIGR | CWPHLRALGV | GGAGCGVQGL | ASLARNCMRL | QVLELDHVSE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ITQEVAAEVC | REGLKGLEML | VLTATPVTPK | ALLHFNSICR | NLKSIVVQIG | IADYFKEPSS |
| 850 | 860 | 870 | |||
| PEAQKLFEDM | VTKLQALRRR | PGFSKILHIK | VEGGC |