Q96MR6
PR
Gene name |
CFAP57 |
Protein name |
Cilia- and flagella-associated protein 57 |
Names |
WD repeat-containing protein 65 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:149465 |
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
2 structures for Q96MR6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8J07 | EM | 410 A | i4/i5 | 1-1250 | PDB |
| AF-Q96MR6-F1 | Predicted | AlphaFoldDB |
983 variants for Q96MR6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000024146 VAR_066494 CA129719 rs387907122 |
523 | D>Y | Van der Woude syndrome 2 Van der woude syndrome 2 (vws2) rare variant found in a patient with Van der Woude syndrome; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA339990470 rs1557715244 |
3 | A>V | No |
ClinGen Ensembl |
|
|
rs1557715264 CA339990474 |
4 | V>M | No |
ClinGen Ensembl |
|
|
CA339990531 rs1557715300 |
7 | Q>E | No |
ClinGen Ensembl |
|
|
rs777760738 CA804268 |
7 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1279040473 CA339990579 |
9 | L>P | No |
ClinGen gnomAD |
|
|
rs1041613425 CA21623847 |
10 | H>R | No |
ClinGen Ensembl |
|
|
rs139567559 CA804269 |
11 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1557715402 CA339990672 |
13 | G>V | No |
ClinGen Ensembl |
|
|
CA804271 rs779198565 |
14 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA339990704 rs1424225581 |
15 | R>P | No |
ClinGen gnomAD |
|
|
rs746016812 CA804272 |
16 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1177667745 CA339990753 |
17 | H>Q | No |
ClinGen gnomAD |
|
|
CA339990747 rs1481638031 |
17 | H>R | No |
ClinGen gnomAD |
|
|
rs1249117348 CA339990739 |
17 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA804273 rs772061713 |
18 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 20 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA804274 rs779965827 |
21 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA804275 rs746992347 |
22 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768737516 CA804276 |
23 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs769131596 CA804279 |
31 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339991007 rs1217415960 |
34 | S>L | No |
ClinGen gnomAD |
|
|
CA339991011 rs1342298403 |
35 | G>R | No |
ClinGen gnomAD |
|
|
rs200892028 CA21623873 |
37 | H>D | No |
ClinGen 1000Genomes |
|
|
CA804282 rs767905897 |
37 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs753034229 CA804284 |
38 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 38 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA804283 rs753034229 |
38 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1199127867 CA339991074 |
39 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA804287 rs757370470 |
40 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs778843315 CA804288 |
42 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs192641331 CA21623895 |
43 | V>E | No |
ClinGen 1000Genomes |
|
|
CA804290 rs758673449 |
44 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1367523123 CA339991193 |
45 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs780375320 CA804291 |
46 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21623905 rs958565006 |
50 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs768503215 CA804293 |
52 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1365906811 CA339991320 |
52 | P>T | No |
ClinGen gnomAD |
|
|
CA804321 rs776839511 |
56 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA804322 rs762190744 |
58 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA804323 rs765693869 |
59 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA804324 rs773788678 |
59 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs763142290 CA804325 |
60 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA339995116 rs1175305511 |
60 | M>T | No |
ClinGen gnomAD |
|
|
rs755128017 CA804328 |
63 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 64 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1273971449 CA339995232 |
66 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA804329 rs200345375 |
67 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200345375 CA804330 |
67 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21627871 rs542043815 |
68 | N>S | No |
ClinGen TOPMed |
|
|
CA804332 rs201770048 |
69 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755893459 CA804331 |
69 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756815800 CA804334 |
70 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs749165112 CA804333 |
70 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557728456 CA339995346 |
71 | Y>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA339995335 rs1569842042 |
71 | Y>S | No |
ClinGen Ensembl |
|
|
rs1375808473 CA339995355 |
72 | L>F | No |
ClinGen gnomAD |
|
|
CA804336 rs568218690 |
73 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 73 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA21627906 rs1047605840 |
74 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs886352010 CA339995440 |
76 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs886352010 CA21627908 |
76 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1569842423 CA339995574 |
81 | K>N | No |
ClinGen Ensembl |
|
|
CA804339 rs779717163 |
82 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376479524 CA804340 |
84 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775152671 CA21627937 |
85 | T>A | No |
ClinGen gnomAD |
|
|
CA21627945 rs556859396 |
85 | T>I | No |
ClinGen Ensembl |
|
|
CA339995653 rs1368022083 |
86 | I>T | No |
ClinGen gnomAD |
|
|
rs1008810163 CA21627953 |
86 | I>V | No |
ClinGen TOPMed |
|
|
rs369456039 CA804342 |
87 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA339995750 rs1557728721 |
90 | S>A | No |
ClinGen Ensembl |
|
|
rs117288508 CA804344 |
91 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs117288508 COSM1720983 CA804343 |
91 | S>F | NS [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1442073471 CA339995795 |
92 | I>L | No |
ClinGen gnomAD |
|
|
rs759608440 CA804346 |
92 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs182415363 CA804348 |
95 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375761680 CA804347 |
95 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs140623499 CA804349 COSM188673 |
97 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs565680657 CA804350 |
97 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA804351 rs565680657 |
97 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339995901 rs1189126383 |
98 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1418570266 CA339995923 |
100 | L>F | No |
ClinGen TOPMed |
|
|
rs1385238593 CA339995953 |
101 | N>I | No |
ClinGen TOPMed |
|
|
CA339996036 rs1447062161 |
104 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA339996041 rs1447062161 |
104 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA339996108 rs1368634282 |
107 | V>G | No |
ClinGen gnomAD |
|
|
rs1472128541 CA339996100 |
107 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs757154706 CA804352 |
108 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs749935032 CA804354 |
109 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA804353 rs778775219 |
109 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA804355 rs138051570 |
113 | M>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1320388184 CA339996245 |
115 | F>I | No |
ClinGen gnomAD |
|
| TCGA novel | 124 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA804359 rs770353152 |
125 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA804361 rs142849148 |
125 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144189781 CA804360 |
125 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339996478 rs1247299393 |
126 | T>A | No |
ClinGen gnomAD |
|
|
CA804363 rs138300205 |
126 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA804365 rs143229697 |
128 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA804366 rs775632162 |
131 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA339996592 rs1162188717 |
132 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1162188717 CA339996589 |
132 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1162188717 CA339996588 |
132 | N>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 133 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA804367 rs372731177 |
135 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA339996628 rs1227919366 |
136 | W>R | No |
ClinGen TOPMed |
|
|
rs1458055915 CA339996660 |
137 | L>P | No |
ClinGen gnomAD |
|
|
rs1458055915 CA339996655 |
137 | L>Q | No |
ClinGen gnomAD |
|
|
CA804368 rs763915730 |
138 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs78835488 CA804370 |
139 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA804369 rs753657445 |
139 | E>Q | No |
ClinGen ExAC |
|
|
CA339996711 rs1450771755 |
140 | K>E | No |
ClinGen gnomAD |
|
|
CA804371 rs765164246 |
142 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs939647871 CA21628126 |
143 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA339996862 rs1394526228 |
144 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1040800797 CA21628137 |
145 | A>T | No |
ClinGen TOPMed |
|
|
rs146670673 CA804372 |
146 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1438049349 CA339997017 |
148 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA21628148 rs916705224 |
148 | R>S | No |
ClinGen gnomAD |
|
|
rs1228730362 CA339997039 |
149 | I>V | No |
ClinGen gnomAD |
|
|
rs779616253 CA804374 |
150 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA21628149 rs112693021 |
151 | T>A | No |
ClinGen Ensembl |
|
|
CA339997114 rs1212134511 |
151 | T>I | No |
ClinGen gnomAD |
|
|
CA21628152 rs997718179 |
152 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA804375 rs751213061 |
152 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA804376 rs754657812 |
154 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA21628158 rs948262876 |
155 | P>T | No |
ClinGen Ensembl |
|
|
rs780939577 CA804377 |
156 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA804391 rs377707658 |
160 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs751106175 CA804392 |
161 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1361443137 CA339998455 |
163 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA339998460 rs1275194686 |
164 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 164 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339998503 rs1294177774 |
166 | N>D | No |
ClinGen TOPMed |
|
|
rs1396554151 CA339998570 |
169 | V>G | No |
ClinGen TOPMed |
|
|
CA804394 rs767278420 |
169 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA804395 rs752337531 |
170 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1342183307 CA339998590 |
170 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 174 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757750404 CA804396 |
175 | G>R | No |
ClinGen ExAC gnomAD |
|
|
COSM3771758 CA339998839 rs1462492747 |
179 | L>F | pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA804398 COSM1581925 rs746402770 |
181 | R>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA804399 rs758915870 |
181 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs150036732 CA804400 |
182 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339998934 rs1467579063 |
182 | F>Y | No |
ClinGen gnomAD |
|
|
rs6663799 VAR_026850 CA804401 |
183 | A>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs776898335 CA804403 |
185 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA804405 rs528534402 |
186 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA804404 rs528534402 |
186 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs548295141 CA21629401 |
190 | T>S | No |
ClinGen 1000Genomes |
|
|
rs773042662 CA804406 |
191 | S>T | No |
ClinGen ExAC |
|
|
CA339999258 rs1406133868 |
195 | G>E | No |
ClinGen gnomAD |
|
|
CA804407 rs762610456 |
196 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA339999303 rs568075586 |
197 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA804408 rs568075586 COSM1581926 |
197 | P>T | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs145731789 CA804410 |
198 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA804411 rs530816090 |
199 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA21629440 rs746186033 |
200 | Y>* | No |
ClinGen Ensembl |
|
|
rs752462607 CA804412 |
202 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA21629457 rs751358929 |
203 | H>R | No |
ClinGen TOPMed |
|
|
CA339999451 rs1289688591 |
203 | H>Y | No |
ClinGen gnomAD |
|
|
CA804414 rs765568702 |
204 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs758623748 CA804416 |
206 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs773978216 CA339999551 |
206 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773978216 CA804415 |
206 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339999604 rs1256085365 |
208 | D>G | No |
ClinGen gnomAD |
|
|
CA339999699 rs1388548521 |
211 | I>L | No |
ClinGen TOPMed |
|
|
CA339999709 rs1191164203 |
211 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs780625366 CA804417 |
212 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1400853623 CA339999743 |
213 | V>A | No |
ClinGen TOPMed |
|
|
CA804419 COSM2170294 rs142914910 |
213 | V>I | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA21629514 rs908527083 |
215 | T>P | No |
ClinGen Ensembl |
|
|
CA804420 rs137950021 |
216 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143847160 CA339999815 |
217 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA804421 rs143847160 |
217 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA804422 rs769255988 |
217 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1176199861 CA339999827 |
218 | G>C | No |
ClinGen TOPMed |
|
|
CA339999844 rs1389351241 |
219 | K>R | No |
ClinGen gnomAD |
|
|
rs777822164 CA804423 |
221 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA804424 rs749109366 |
222 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339999953 rs1341729263 |
225 | S>C | No |
ClinGen gnomAD |
|
|
CA339999975 rs1448304243 |
226 | G>V | No |
ClinGen gnomAD |
|
|
CA804426 rs774485511 |
229 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA340000047 rs774485511 |
229 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs142097853 CA804427 |
229 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775115210 CA804429 |
230 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1458595931 CA340000108 |
231 | E>V | No |
ClinGen TOPMed |
|
|
CA340000123 rs1167641925 |
232 | T>I | No |
ClinGen gnomAD |
|
|
rs760054263 CA804430 |
233 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1203882477 CA340000221 |
236 | V>G | No |
ClinGen gnomAD |
|
|
CA340000224 rs1443012146 |
237 | K>E | No |
ClinGen gnomAD |
|
|
rs563816717 CA21629566 |
238 | E>G | No |
ClinGen Ensembl |
|
|
CA21629559 rs543421429 |
238 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
COSM130204 rs753374489 CA804432 |
239 | P>S | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs763435115 CA804433 |
240 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs766727793 CA804434 |
240 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA804435 VAR_026851 rs663824 |
241 | N>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs376324925 CA804436 |
241 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376324925 CA340000322 |
241 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781631334 CA21629601 |
242 | G>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 242 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA804437 COSM464645 rs781631334 |
242 | G>S | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA804439 rs200092574 |
244 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1403757762 CA340000382 |
245 | S>C | No |
ClinGen gnomAD |
|
|
CA804441 rs191600482 |
245 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778065123 CA804442 |
246 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs141662599 CA804443 |
247 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs141662599 CA340000420 |
247 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1353220653 CA340000491 |
249 | I>T | No |
ClinGen gnomAD |
|
|
rs1233555775 CA340000568 |
251 | E>* | No |
ClinGen TOPMed |
|
| TCGA novel | 252 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 253 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340000647 rs1350191313 |
253 | E>K | No |
ClinGen gnomAD |
|
|
COSM3719095 rs1479767247 CA340001746 |
256 | I>T | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA340001873 rs1435008334 |
260 | P>L | No |
ClinGen TOPMed |
|
|
rs754127220 CA21630451 |
260 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA804464 rs754127220 |
260 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA21630464 rs879126749 |
261 | V>A | No |
ClinGen Ensembl |
|
|
CA21630460 rs372427880 |
261 | V>I | No |
ClinGen ESP TOPMed |
|
|
CA804467 rs745689058 |
266 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1168594363 CA340002046 |
267 | S>C | No |
ClinGen TOPMed |
|
|
rs758210227 CA804468 |
268 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1374731442 CA340002143 |
270 | Q>* | No |
ClinGen TOPMed |
|
|
rs1374731442 CA340002146 |
270 | Q>E | No |
ClinGen TOPMed |
|
|
rs375848417 CA804469 |
270 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368874977 CA804470 |
273 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA21630482 rs957375075 |
279 | Q>L | No |
ClinGen gnomAD |
|
|
rs769471878 CA804474 |
280 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747646941 CA804473 |
280 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA804475 rs772788777 |
281 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1294906022 CA340002530 |
281 | S>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs767850696 CA804477 |
282 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs759903609 CA804476 |
282 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340002606 rs1569875835 |
283 | P>S | No |
ClinGen Ensembl |
|
|
rs761053114 CA804479 |
284 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs764281502 CA804480 CA804481 |
284 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251011998 CA340002623 |
284 | Q>P | No |
ClinGen gnomAD |
|
|
rs1188689458 CA340002644 |
285 | V>M | No |
ClinGen gnomAD |
|
|
CA804482 rs757371636 |
287 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765560668 CA804483 |
287 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758334955 CA804485 |
288 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750661261 CA804484 COSM535148 |
288 | I>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA340002784 rs1461216713 |
289 | A>S | No |
ClinGen gnomAD |
|
|
CA21630543 rs959137758 |
289 | A>V | No |
ClinGen Ensembl |
|
|
CA21630544 rs868207384 |
290 | A>D | No |
ClinGen Ensembl |
|
|
CA21630545 rs755547772 |
291 | Y>C | No |
ClinGen Ensembl |
|
|
CA340002935 rs1436458363 |
294 | G>A | No |
ClinGen gnomAD |
|
|
CA804487 rs747017739 COSM1685828 |
294 | G>R | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA340002959 rs1359879469 |
295 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 297 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA804490 rs376767106 |
297 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA21630561 rs1051481397 |
298 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1331230385 CA340003061 |
299 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 302 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA804491 rs747619273 |
303 | R>K | No |
ClinGen ExAC TOPMed |
|
|
CA340003186 rs747619273 |
303 | R>T | No |
ClinGen ExAC TOPMed |
|
|
rs566366634 CA804493 |
307 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340003421 rs1484570211 |
308 | E>D | No |
ClinGen gnomAD |
|
|
rs867864309 CA21630604 |
308 | E>K | No |
ClinGen Ensembl |
|
|
CA804494 rs748930914 |
309 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs772462502 CA804495 |
311 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs549625322 CA804496 |
312 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1414632731 CA340003716 |
314 | D>E | No |
ClinGen gnomAD |
|
|
CA804497 rs761048869 |
314 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA804498 rs769072613 |
317 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs116756665 CA804499 |
317 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA804500 rs761997956 |
321 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs74857529 CA804501 |
322 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372588335 CA804532 |
324 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340005185 rs756020796 |
325 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA804533 rs756020796 |
325 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340005195 rs1452618413 |
326 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA340005194 rs1452618413 |
326 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs777635876 CA804534 |
327 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA804535 rs375915388 |
328 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1352482722 CA340005230 |
329 | Q>* | No |
ClinGen gnomAD |
|
|
rs1367780020 CA340005261 |
331 | N>S | No |
ClinGen TOPMed |
|
|
rs866016153 CA21632125 |
333 | P>L | No |
ClinGen Ensembl |
|
|
CA21632134 rs999240240 |
334 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA340005296 rs999240240 |
334 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs778442721 CA804537 |
335 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1369639724 CA340005308 |
335 | Q>P | No |
ClinGen gnomAD |
|
|
rs745520873 CA804538 |
336 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs768941804 CA804539 |
339 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340005377 rs1165026535 |
340 | D>G | No |
ClinGen TOPMed |
|
|
rs200390508 CA804541 COSM909725 |
341 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 342 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_026852 rs11210805 CA804544 |
345 | C>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1190624609 CA340005459 |
347 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA340005453 rs1249654088 |
347 | S>R | No |
ClinGen TOPMed |
|
|
CA804548 rs759769196 |
353 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs767261157 CA804549 |
353 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1485818751 CA340005537 |
354 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
CA804550 rs775283643 |
356 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA804551 rs532399984 COSM1581928 |
359 | K>E | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA340005641 rs1344808961 |
363 | Y>C | No |
ClinGen TOPMed |
|
|
CA340005676 rs1322041736 |
365 | I>N | No |
ClinGen gnomAD |
|
|
CA21632274 rs899582060 |
365 | I>V | No |
ClinGen gnomAD |
|
|
CA804555 rs756774353 |
367 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340005761 rs1268008383 |
369 | L>V | No |
ClinGen gnomAD |
|
|
rs370557614 CA804556 |
370 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 373 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1280820429 CA339965922 |
375 | G>E | No |
ClinGen gnomAD |
|
|
CA804574 rs765036260 |
375 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA804576 rs757783203 |
377 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 381 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA21591511 rs200269736 |
383 | L>F | No |
ClinGen gnomAD |
|
|
CA804580 rs756618171 |
383 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs902787951 CA21591533 |
384 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1156375662 CA339965997 |
386 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1303926737 CA339966010 |
388 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1216994003 CA339966020 |
389 | S>* | No |
ClinGen TOPMed |
|
|
CA339966029 rs199746527 |
391 | P>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs199746527 CA21591552 |
391 | P>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs368895767 CA804584 |
393 | T>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs371546643 CA339966046 |
394 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371546643 CA804586 |
394 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367957524 CA21591568 |
395 | L>I | No |
ClinGen ESP |
|
|
rs537699818 COSM1687562 CA804587 |
400 | R>C | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs372200685 COSM248333 CA804588 |
400 | R>H | central_nervous_system prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs372200685 CA339966084 |
400 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201091927 CA21591599 |
401 | K>E | No |
ClinGen gnomAD |
|
|
rs1408857534 CA339966096 |
402 | P>L | No |
ClinGen TOPMed |
|
|
rs1408857534 CA339966095 |
402 | P>R | No |
ClinGen TOPMed |
|
|
rs768488513 CA804589 |
402 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA339966099 rs1484149283 |
403 | L>F | No |
ClinGen gnomAD |
|
|
rs1197381009 CA339966107 |
404 | I>T | No |
ClinGen gnomAD |
|
|
CA339966145 rs1437175675 |
410 | D>G | No |
ClinGen gnomAD |
|
|
rs776508053 CA804590 |
411 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA804591 rs143690328 |
411 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs769777868 CA804593 |
414 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA804594 rs201494372 |
414 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769777868 CA804592 |
414 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765980106 CA804596 |
420 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA804597 rs751293181 |
421 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA804621 rs758927486 |
422 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA804620 rs750980352 |
422 | T>S | No |
ClinGen ExAC |
|
|
rs1557758379 CA339966239 |
423 | L>R | No |
ClinGen Ensembl |
|
|
CA339966240 rs751641776 |
424 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751641776 CA804624 |
424 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 425 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1216612622 CA339966248 |
425 | L>V | No |
ClinGen gnomAD |
|
|
rs144486471 CA804626 |
427 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA804628 rs755974272 |
430 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1295804610 CA339966298 |
432 | E>K | No |
ClinGen TOPMed |
|
|
rs1486539560 CA339966311 |
433 | A>V | No |
ClinGen gnomAD |
|
|
CA804629 rs777404200 |
436 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749046450 CA804630 |
440 | P>L | No |
ClinGen ExAC |
|
|
CA339966363 rs1372934817 |
441 | S>F | No |
ClinGen gnomAD |
|
|
CA21592277 rs930113865 |
443 | H>Y | No |
ClinGen TOPMed |
|
|
rs1309331847 CA339966380 |
444 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1190605175 CA339966390 |
445 | I>T | No |
ClinGen gnomAD |
|
|
rs745387050 CA804633 |
446 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA804635 rs775280294 |
447 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs372486887 CA804634 |
447 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339966407 rs1454414170 |
448 | G>A | No |
ClinGen gnomAD |
|
|
rs1347058727 CA339966402 |
448 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1192972196 CA339966414 |
449 | F>L | No |
ClinGen TOPMed |
|
|
rs765682992 CA804637 |
452 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA339966444 rs1416841642 |
454 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs773597866 CA804638 |
454 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21592298 rs1007995389 |
455 | L>F | No |
ClinGen TOPMed |
|
|
rs1354059535 CA339966462 |
457 | N>D | No |
ClinGen TOPMed |
|
|
rs763236594 CA804639 |
457 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA804642 rs375804626 |
460 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1346726470 CA339966498 |
462 | D>G | No |
ClinGen TOPMed |
|
|
CA339966494 rs1274362309 |
462 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA339966493 rs1274362309 |
462 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA339966502 rs1318632293 |
463 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA804643 rs767461121 |
464 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753008986 CA804644 |
464 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1168846400 CA339966525 |
466 | F>L | No |
ClinGen TOPMed |
|
|
rs369224409 CA804645 |
467 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778019949 CA804646 |
468 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193080061 CA339966545 |
469 | Y>F | No |
ClinGen TOPMed |
|
|
CA339966556 rs1258688955 |
471 | V>L | No |
ClinGen gnomAD |
|
|
CA804647 rs578169260 |
472 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200428342 CA21592401 |
473 | G>A | No |
ClinGen Ensembl |
|
|
rs1480777457 CA339966576 |
474 | C>F | No |
ClinGen TOPMed |
|
|
rs779052991 CA339966580 |
475 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779052991 CA804649 |
475 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745797370 CA804650 |
476 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA804669 rs778821680 |
477 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1384454816 CA339966603 |
477 | C>R | No |
ClinGen Ensembl |
|
|
rs750436205 CA21592842 |
478 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA804670 rs750436205 |
478 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758290507 CA804671 |
481 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA339966634 rs1374538223 |
481 | N>K | No |
ClinGen gnomAD |
|
|
CA804672 rs373871095 |
481 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA21592845 rs267598610 |
482 | G>R | No |
ClinGen Ensembl |
|
|
CA804674 rs527345789 |
485 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747765337 CA804676 |
486 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463846872 CA339966671 |
488 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA804677 rs771330454 |
490 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 490 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 491 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308406817 CA339966704 |
493 | V>M | No |
ClinGen gnomAD |
|
|
rs368071031 CA804678 |
494 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1470198597 CA339966720 |
495 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1256769996 CA339966717 |
495 | H>Y | No |
ClinGen gnomAD |
|
|
CA804680 rs201249188 |
496 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776009936 CA804681 |
498 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA21592901 rs977579625 |
498 | T>N | No |
ClinGen gnomAD |
|
|
rs776009936 CA339966737 |
498 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA339966743 rs1570018546 |
499 | T>P | No |
ClinGen Ensembl |
|
|
CA804683 rs764266565 |
500 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA804684 rs376583075 COSM681325 |
500 | T>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs762106232 CA804685 |
501 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs765507606 CA804686 |
505 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA339966783 rs1313914615 |
505 | I>T | No |
ClinGen TOPMed |
|
|
rs758153816 CA804688 |
506 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA804687 rs541312331 |
506 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1362197924 CA339966820 |
511 | H>R | No |
ClinGen gnomAD |
|
|
rs751508910 CA804690 |
512 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339966846 rs1377413286 |
514 | K>E | No |
ClinGen TOPMed |
|
|
CA804706 rs146401114 |
516 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA804707 rs762720837 |
516 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA804708 rs766166142 |
525 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs528404296 CA21598965 |
525 | S>R | No |
ClinGen Ensembl |
|
|
CA339968107 rs1570081305 |
528 | I>N | No |
ClinGen Ensembl |
|
|
rs751497145 CA804709 |
530 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs375430661 CA804710 |
530 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1471767108 CA339968239 |
539 | W>* | No |
ClinGen gnomAD |
|
|
CA21598997 rs763128644 |
540 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 541 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368831017 CA804714 |
543 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339968303 rs777350310 |
544 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA804715 rs777350310 |
544 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 545 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758731720 CA804718 |
546 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA339968327 rs1477700558 |
546 | R>T | No |
ClinGen TOPMed |
|
|
CA339968339 rs1557771437 |
547 | E>A | No |
ClinGen Ensembl |
|
|
rs1039725084 CA21599044 |
547 | E>K | No |
ClinGen Ensembl |
|
|
rs1039725084 CA339968335 |
547 | E>Q | No |
ClinGen Ensembl |
|
|
rs1430363605 CA339968357 |
548 | T>R | No |
ClinGen TOPMed |
|
|
CA339968359 rs1444917260 |
549 | E>K | No |
ClinGen gnomAD |
|
|
rs1280212423 CA339968378 |
550 | C>G | No |
ClinGen gnomAD |
|
|
rs780445927 CA339968387 |
550 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA804722 rs138469562 |
551 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA804721 rs138469562 |
551 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA21599083 rs567504378 |
552 | L>P | No |
ClinGen 1000Genomes |
|
|
rs1282795610 CA339968430 |
554 | S>A | No |
ClinGen gnomAD |
|
|
CA804724 rs748296185 |
557 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748296185 CA339968464 |
557 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA804723 rs777220242 |
557 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs146986305 CA21599109 |
558 | N>K | No |
ClinGen ESP TOPMed |
|
|
rs769988170 CA804725 |
558 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376428172 CA339968473 |
559 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376428172 CA804726 |
559 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339968496 rs1183822155 |
562 | V>A | No |
ClinGen gnomAD |
|
|
CA339968502 rs1232987974 |
563 | S>C | No |
ClinGen gnomAD |
|
|
CA339968501 rs1232987974 |
563 | S>Y | No |
ClinGen gnomAD |
|
|
rs766460298 CA804730 |
565 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA804729 rs141144474 |
565 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339968538 rs1476838249 |
567 | K>R | No |
ClinGen gnomAD |
|
|
CA804731 rs774229357 |
568 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA804732 rs759255826 |
569 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA339968559 rs759255826 |
569 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA804733 rs767459645 |
571 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21599157 rs903346848 |
575 | D>A | No |
ClinGen Ensembl |
|
|
rs755691126 CA804735 |
575 | D>E | No |
ClinGen ExAC |
|
|
CA804734 rs752621376 |
575 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA804736 rs137936405 |
576 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1444705524 CA339968667 |
577 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1570083554 CA339968683 |
579 | K>E | No |
ClinGen Ensembl |
|
|
CA804737 rs753484691 |
579 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1233771051 CA339968700 |
580 | E>A | No |
ClinGen gnomAD |
|
|
CA804738 rs756958967 |
580 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA804739 rs778389637 |
581 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21599201 rs924293341 |
583 | D>G | No |
ClinGen TOPMed |
|
|
CA21599202 rs556361030 |
584 | S>F | No |
ClinGen 1000Genomes gnomAD |
|
|
rs781781304 CA804742 |
585 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA804741 rs755380194 |
585 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA21601992 rs267598611 |
587 | L>F | No |
ClinGen Ensembl |
|
|
COSM1581929 CA804774 rs369556067 |
588 | R>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA339968837 rs373115482 |
588 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373115482 CA804775 |
588 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766087451 CA804776 |
590 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA804778 rs756372048 |
591 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA804777 rs753114285 |
591 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753114285 CA339968853 |
591 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377411956 CA804780 |
592 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339968862 rs1210973145 |
593 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 593 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339968880 rs1570106558 |
595 | V>A | No |
ClinGen Ensembl |
|
|
rs778944883 CA804782 |
595 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339968882 rs1570106599 |
596 | T>P | No |
ClinGen Ensembl |
|
|
rs745900192 CA804784 |
597 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA339968891 rs745900192 |
597 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA339968892 rs745900192 |
597 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA804786 rs75189449 |
598 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21602086 rs75189449 |
598 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21602108 rs1041909666 |
599 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA339968905 rs1454528289 |
600 | I>V | No |
ClinGen gnomAD |
|
|
CA339968977 rs1358833563 |
604 | H>R | No |
ClinGen gnomAD |
|
|
rs1397955249 CA339968999 COSM1685829 |
605 | S>F | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs776669989 CA804789 |
607 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs200705222 CA804790 |
607 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1309961967 CA339969065 |
609 | M>I | No |
ClinGen gnomAD |
|
|
rs1318158454 CA339969100 |
611 | V>A | No |
ClinGen gnomAD |
|
|
CA339969132 rs1284933313 |
613 | T>I | No |
ClinGen gnomAD |
|
|
rs41301054 CA804792 |
614 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766140759 CA804794 |
615 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA21602137 rs1006224620 |
615 | V>M | No |
ClinGen TOPMed |
|
|
rs892666914 CA21602145 |
616 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 617 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145112957 CA804796 |
619 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA804797 rs181283378 |
619 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA804798 rs754421634 |
620 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1378769991 CA339969235 |
621 | M>K | No |
ClinGen gnomAD |
|
|
rs757730378 CA804799 |
621 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA804800 rs374305341 |
622 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199759108 CA804801 |
623 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1175297145 CA339969265 |
623 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs780313533 CA804803 |
624 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA339969318 rs1375417219 |
626 | P>L | No |
ClinGen gnomAD |
|
|
CA804805 rs148890050 |
632 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780870576 CA804806 |
634 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21602207 rs889399542 |
635 | Q>H | No |
ClinGen Ensembl |
|
|
CA339969479 rs1235971743 |
636 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA339969481 rs1235971743 |
636 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA21602210 rs1034233174 |
638 | A>D | No |
ClinGen Ensembl |
|
|
rs542413771 CA339969518 |
639 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA804809 rs542413771 |
639 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs748862437 CA804810 |
641 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA339969578 rs1458596856 |
643 | K>R | No |
ClinGen gnomAD |
|
|
rs771351512 CA804858 |
645 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339971469 rs1385363124 |
650 | D>A | No |
ClinGen TOPMed |
|
|
rs759598513 CA804860 |
651 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1003357300 CA21606544 |
655 | T>S | No |
ClinGen TOPMed |
|
|
CA339971511 rs1380588369 |
657 | A>G | No |
ClinGen gnomAD |
|
|
CA804862 rs78264644 |
660 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1215359872 CA339971539 |
661 | C>Y | No |
ClinGen gnomAD |
|
|
rs1157233006 CA339971547 |
662 | L>R | No |
ClinGen gnomAD |
|
|
CA339971561 rs1404724907 |
664 | T>I | No |
ClinGen gnomAD |
|
|
rs1334134347 CA339971579 |
667 | V>I | No |
ClinGen gnomAD |
|
|
rs1255099569 CA339971587 |
668 | F>V | No |
ClinGen gnomAD |
|
|
rs1200707613 CA339971614 |
671 | D>V | No |
ClinGen TOPMed |
|
|
CA339971623 rs777001077 |
673 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA804865 rs764375009 |
673 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777001077 CA804864 |
673 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA21606616 rs767245878 |
674 | G>* | No |
ClinGen gnomAD |
|
|
CA339971626 rs767245878 |
674 | G>R | No |
ClinGen gnomAD |
|
|
rs997966479 CA21606628 |
675 | I>T | No |
ClinGen Ensembl |
|
|
CA804866 rs753695154 |
675 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA804867 rs757020445 |
677 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339971645 rs143889464 |
677 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA804868 rs143889464 |
677 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1346307476 CA339971648 |
678 | E>Q | No |
ClinGen TOPMed |
|
|
CA21606656 rs985368960 |
680 | E>D | No |
ClinGen Ensembl |
|
|
CA339971679 rs1471202043 |
681 | V>L | No |
ClinGen gnomAD |
|
|
CA21606662 rs925863449 |
682 | G>D | No |
ClinGen Ensembl |
|
|
rs1200787172 CA339971710 |
683 | F>S | No |
ClinGen gnomAD |
|
|
rs1277888574 CA339971727 |
684 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA804869 rs563739006 |
685 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs961949412 CA21606681 |
686 | E>G | No |
ClinGen TOPMed |
|
|
rs1238180655 CA339971750 |
686 | E>K | No |
ClinGen gnomAD |
|
|
rs1438704701 CA339971775 |
687 | V>M | No |
ClinGen gnomAD |
|
|
CA339971823 rs1176340388 |
689 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA339971877 rs1378976326 |
692 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs61738906 CA804870 |
693 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1172347850 CA339971920 |
694 | M>V | No |
ClinGen gnomAD |
|
|
CA804871 rs147248272 |
695 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1390523436 CA339971984 |
696 | E>G | No |
ClinGen gnomAD |
|
|
rs1467583648 CA339971974 |
696 | E>K | No |
ClinGen gnomAD |
|
|
CA21608528 rs949435834 |
698 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1229993160 CA339973531 |
703 | E>K | No |
ClinGen TOPMed |
|
|
CA339973545 rs1423496932 |
704 | L>I | No |
ClinGen gnomAD |
|
|
rs1423496932 CA339973547 |
704 | L>V | No |
ClinGen gnomAD |
|
|
rs1014047740 CA21608535 |
705 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA804877 rs549675222 |
707 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339973583 rs549675222 |
707 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1023728196 CA21608541 |
707 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA339973587 rs1023728196 |
707 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1386359734 CA339973607 |
709 | E>A | No |
ClinGen gnomAD |
|
|
CA21608551 rs969765261 |
710 | E>* | No |
ClinGen gnomAD |
|
|
CA339973627 rs1195375906 |
710 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA21608567 CA804878 rs774758693 |
713 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1004328022 CA21608571 |
716 | E>A | No |
ClinGen TOPMed |
|
|
rs1317214947 CA339973777 |
717 | Y>C | No |
ClinGen gnomAD |
|
|
rs1216330018 CA339973792 |
718 | Q>* | No |
ClinGen gnomAD |
|
|
rs569334705 CA804879 |
719 | L>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1185957100 CA339973817 |
719 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA339973839 rs1475856420 |
720 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA339973844 rs1208822970 |
720 | R>Q | No |
ClinGen gnomAD |
|
|
CA21608583 rs951593901 |
721 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA21608588 rs975143557 |
722 | K>T | No |
ClinGen TOPMed |
|
|
CA339973914 rs1450764712 |
723 | D>G | No |
ClinGen TOPMed |
|
|
rs1489499039 CA339973931 |
724 | M>L | No |
ClinGen gnomAD |
|
|
rs1194814901 CA339973971 |
725 | N>K | No |
ClinGen gnomAD |
|
|
CA21608593 rs201882844 |
728 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA339974020 rs201882844 |
728 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA21608599 rs148273731 |
729 | K>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs557935597 CA21608601 |
732 | E>G | No |
ClinGen 1000Genomes |
|
|
CA21608604 rs912730552 |
734 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA804880 rs772413738 |
735 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 737 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1234331530 CA339974232 |
738 | I>V | No |
ClinGen TOPMed |
|
|
rs780754800 CA804881 |
746 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273522961 CA339974369 |
748 | N>D | No |
ClinGen TOPMed |
|
|
CA339974379 rs1362653444 |
748 | N>K | No |
ClinGen gnomAD |
|
|
CA339974386 rs1421352810 |
749 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1421352810 CA339974385 |
749 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1053301422 CA21609613 |
750 | V>D | No |
ClinGen Ensembl |
|
|
rs1256984999 CA339975210 |
751 | L>S | No |
ClinGen gnomAD |
|
|
CA339975217 rs1461946787 |
752 | R>G | No |
ClinGen TOPMed |
|
|
CA21609631 rs879822222 |
752 | R>I | No |
ClinGen Ensembl |
|
|
CA21609644 rs891929099 |
756 | E>G | No |
ClinGen Ensembl |
|
|
rs1378665141 CA339975319 |
757 | K>R | No |
ClinGen TOPMed |
|
|
CA339975349 rs1382475095 |
759 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA804886 rs765051014 |
759 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1382475095 CA339975345 |
759 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA339975371 rs1479622287 |
760 | V>G | No |
ClinGen TOPMed |
|
|
rs1159042234 CA339975424 |
763 | H>Q | No |
ClinGen gnomAD |
|
|
CA21609653 rs988522190 |
763 | H>R | No |
ClinGen TOPMed |
|
|
CA339975456 rs1359607564 |
765 | H>L | No |
ClinGen gnomAD |
|
|
rs1183144592 CA339975449 |
765 | H>Y | No |
ClinGen TOPMed |
|
|
CA339975466 rs1570198325 |
766 | I>M | No |
ClinGen Ensembl |
|
|
CA339975464 rs1451584697 |
766 | I>T | No |
ClinGen gnomAD |
|
|
rs755728268 CA21609659 |
766 | I>V | No |
ClinGen Ensembl |
|
|
rs61750867 CA804887 |
767 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA21609668 rs949725974 |
770 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA21609689 rs752549029 |
775 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA804888 rs187149881 |
775 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339975649 rs1240346913 |
776 | E>K | No |
ClinGen gnomAD |
|
|
CA21609706 rs926997402 |
779 | D>N | No |
ClinGen TOPMed |
|
|
rs1321148661 CA339975772 |
781 | E>* | No |
ClinGen TOPMed |
|
|
CA339975940 rs1334138465 |
782 | C>G | No |
ClinGen gnomAD |
|
|
CA339976023 rs1401777566 |
784 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1557798342 CA339976087 |
786 | Q>K | No |
ClinGen Ensembl |
|
|
CA339976172 rs1232865892 |
788 | L>S | No |
ClinGen TOPMed |
|
|
rs1054958921 CA21610127 |
792 | Y>F | No |
ClinGen TOPMed |
|
|
rs1330308522 CA339976438 |
796 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA339976437 rs1330308522 |
796 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA339976546 rs1370694150 |
799 | Q>K | No |
ClinGen gnomAD |
|
|
CA804892 rs554748623 |
800 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1222171818 CA339976612 |
801 | K>N | No |
ClinGen gnomAD |
|
|
rs1010525919 CA21610141 |
805 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA339976658 rs1190618251 |
805 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1458304285 CA339976687 |
807 | E>A | No |
ClinGen gnomAD |
|
|
CA339976694 rs1198066484 |
807 | E>D | No |
ClinGen gnomAD |
|
|
rs1570204867 CA339976700 |
808 | E>* | No |
ClinGen Ensembl |
|
|
CA804894 rs75967600 |
808 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1570204948 CA339976716 |
809 | Y>D | No |
ClinGen Ensembl |
|
|
rs556205421 CA804895 |
814 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs536737558 CA21610170 |
814 | R>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs746181988 CA804896 |
817 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339976859 rs772641345 |
819 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772641345 CA804897 |
819 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1345484949 CA339976854 |
819 | T>S | No |
ClinGen TOPMed |
|
|
rs1465732936 CA339976874 |
820 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA339976885 rs1406567331 |
821 | S>N | No |
ClinGen TOPMed |
|
|
CA339976910 rs1169322012 |
823 | A>T | No |
ClinGen gnomAD |
|
|
CA339976949 rs1352408282 |
826 | E>K | No |
ClinGen gnomAD |
|
|
rs1352408282 CA339976950 |
826 | E>Q | No |
ClinGen gnomAD |
|
|
CA21610202 rs1034244790 |
827 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA804898 rs776086501 |
829 | E>K | No |
ClinGen ExAC |
|
|
CA339976993 rs1294515280 |
829 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1367299154 CA339977013 |
830 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1183373023 CA339977023 |
831 | Y>S | No |
ClinGen TOPMed |
|
|
rs373207612 CA21610206 |
832 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs373207612 CA339977032 |
832 | E>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs78435721 CA804899 |
834 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200118019 CA804900 |
836 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 839 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339977109 rs1570206067 |
839 | T>P | No |
ClinGen Ensembl |
|
|
CA21610210 rs1016465016 |
840 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1016465016 CA339977119 |
840 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200890811 CA804905 |
845 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1297660525 CA339977339 |
849 | V>I | No |
ClinGen TOPMed |
|
|
rs1289488947 CA339977421 |
851 | Q>H | No |
ClinGen gnomAD |
|
|
rs1357532344 CA339977429 |
852 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs914769802 CA21610552 |
853 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA339977469 rs1214941598 |
854 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs751489910 CA804908 |
854 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21610567 rs977416160 |
859 | T>N | No |
ClinGen TOPMed |
|
|
CA339977660 rs1473522174 |
860 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA804910 rs569774728 |
861 | K>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1384299302 CA339977711 |
862 | Q>* | No |
ClinGen gnomAD |
|
|
CA804911 rs150404479 |
863 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339977792 rs1160836401 |
864 | E>* | No |
ClinGen gnomAD |
|
|
CA339977844 rs1244394897 |
865 | E>Q | No |
ClinGen TOPMed |
|
|
rs558523595 CA21610585 |
869 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA804912 rs558523595 |
869 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1316887457 CA339977998 |
869 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA339977986 rs1316887457 |
869 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1055858414 CA21610586 |
873 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1455175773 CA339978120 |
874 | I>T | No |
ClinGen gnomAD |
|
|
rs915763955 CA339978162 |
876 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs915763955 CA21610587 |
876 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA339978242 rs1242525341 |
878 | Y>C | No |
ClinGen gnomAD |
|
|
CA339978323 rs1354204950 |
880 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA21610604 rs1054310120 |
883 | R>Q | No |
ClinGen TOPMed |
|
|
rs1454296376 CA339978384 |
883 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs138121612 CA804914 |
884 | D>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs138121612 CA339978401 |
884 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1037629476 CA21610618 |
887 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA339978500 rs1210214232 |
890 | L>R | No |
ClinGen gnomAD |
|
|
rs200006667 CA804915 |
891 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21610622 rs746742789 |
891 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA339978521 rs1051361795 |
893 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1051361795 CA21610627 |
893 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA339978524 rs1451539350 |
894 | G>R | No |
ClinGen TOPMed |
|
|
CA339978571 rs1469988241 |
897 | G>D | No |
ClinGen gnomAD |
|
|
rs1380496073 CA339978561 |
897 | G>S | No |
ClinGen gnomAD |
|
|
CA339978585 rs1157175640 |
898 | I>V | No |
ClinGen gnomAD |
|
|
CA21610629 rs554927101 |
899 | M>I | No |
ClinGen 1000Genomes |
|
|
CA21611167 rs977337009 |
904 | S>C | No |
ClinGen Ensembl |
|
|
rs946362796 CA21611168 |
905 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1042537769 CA21611169 |
905 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1249135559 CA339979140 |
906 | L>P | No |
ClinGen gnomAD |
|
|
CA339979166 rs1321312842 |
907 | Q>H | No |
ClinGen gnomAD |
|
|
rs1258062686 CA339979230 |
910 | I>F | No |
ClinGen gnomAD |
|
|
rs201954176 CA804928 |
910 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs190140571 CA804929 |
913 | R>* | Variant assessed as Somatic; 5.948e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs190140571 CA339979289 |
913 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339979295 rs1216005678 |
913 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA339979306 rs1291542297 |
914 | T>A | No |
ClinGen gnomAD |
|
|
CA21611216 rs548280813 |
914 | T>I | No |
ClinGen 1000Genomes |
|
|
rs1192218682 CA339979339 |
915 | N>S | No |
ClinGen TOPMed |
|
|
rs568497055 CA21611242 |
918 | E>K | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1013599558 CA21611248 |
919 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs763869447 CA804931 |
922 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1194497322 CA339979568 |
923 | E>K | No |
ClinGen gnomAD |
|
|
CA339979649 rs1557802451 |
925 | M>I | No |
ClinGen Ensembl |
|
|
CA339979709 rs1460685122 |
928 | Q>* | No |
ClinGen gnomAD |
|
|
CA339979738 rs1356050633 |
929 | G>R | No |
ClinGen TOPMed |
|
|
rs1557802502 CA339979989 |
936 | K>N | No |
ClinGen Ensembl |
|
|
CA339980087 rs1425129113 |
939 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 939 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339980178 rs1343568020 |
940 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1343568020 CA339980193 |
940 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1295716286 CA339980248 |
942 | K>M | No |
ClinGen gnomAD |
|
|
CA804932 rs745712926 |
943 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758874136 CA804933 |
943 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1285656624 CA339980367 |
945 | I>F | No |
ClinGen gnomAD |
|
|
CA339980428 rs1356607987 |
946 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1289975513 CA339980617 |
950 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs769899363 CA21611294 |
952 | I>L | No |
ClinGen gnomAD |
|
|
CA21611300 rs942089027 |
953 | Q>H | No |
ClinGen TOPMed |
|
|
CA804942 rs543173080 |
956 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774161232 CA804943 |
958 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339982919 rs1363162407 |
959 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs917792900 CA21613053 |
960 | Y>C | No |
ClinGen Ensembl |
|
| TCGA novel | 961 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs949406946 CA21613058 |
963 | K>R | No |
ClinGen TOPMed |
|
|
CA21613063 rs578039971 |
965 | K>E | No |
ClinGen 1000Genomes gnomAD |
|
|
CA804945 rs772013333 |
967 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA339983199 rs1247128329 |
968 | E>D | No |
ClinGen TOPMed |
|
|
rs887350289 CA21613097 |
969 | L>R | No |
ClinGen Ensembl |
|
|
CA339983270 rs1354215851 |
970 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA21613102 rs925721750 |
970 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1263865340 CA339983290 |
971 | K>R | No |
ClinGen gnomAD |
|
|
rs1275695586 CA339983498 |
976 | L>F | No |
ClinGen TOPMed |
|
|
CA339983551 rs1213276910 |
977 | D>N | No |
ClinGen TOPMed |
|
|
rs1310003841 CA339983649 |
979 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA339983709 rs1201841630 |
980 | I>T | No |
ClinGen gnomAD |
|
|
CA339983784 rs1443401869 |
981 | K>N | No |
ClinGen TOPMed |
|
|
rs1020162464 CA21613113 |
981 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA339983780 rs1020162464 |
981 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1325380506 CA339983986 |
987 | I>V | No |
ClinGen TOPMed |
|
|
rs758784779 CA21613114 |
989 | P>A | No |
ClinGen Ensembl |
|
|
rs965526331 CA21613116 |
990 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs965526331 CA21613115 |
990 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs892606329 CA339984103 |
990 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs892606329 CA21613121 |
990 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA339984157 rs1249498489 |
992 | N>S | No |
ClinGen gnomAD |
|
|
CA21613129 rs1009839789 |
994 | I>V | No |
ClinGen TOPMed |
|
|
CA804948 rs763480759 |
995 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763480759 CA339984225 |
995 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs997195625 CA21613138 |
997 | M>T | No |
ClinGen TOPMed |
|
|
rs753576567 CA804949 |
997 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1046602967 CA21613142 |
998 | K>N | No |
ClinGen TOPMed |
|
|
rs761581348 CA804950 |
999 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1028719491 CA21613143 |
1000 | Q>* | No |
ClinGen Ensembl |
|
|
CA339984533 rs1442409869 |
1001 | I>M | No |
ClinGen gnomAD |
|
|
CA339988761 rs1557816310 |
1010 | N>T | No |
ClinGen Ensembl |
|
|
CA339988814 rs1462404130 |
1011 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 1011 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs949081793 CA21615182 |
1012 | H>R | No |
ClinGen TOPMed |
|
|
rs1183868356 CA339988871 |
1014 | Q>* | No |
ClinGen gnomAD |
|
|
rs1470583714 CA339988882 |
1014 | Q>H | No |
ClinGen TOPMed |
|
|
rs1384200748 CA339988926 |
1016 | T>S | No |
ClinGen gnomAD |
|
|
CA339988952 rs1160649144 |
1017 | Q>R | No |
ClinGen gnomAD |
|
|
rs1434215104 CA339989023 |
1019 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA339989077 rs1456379068 |
1021 | N>D | No |
ClinGen TOPMed |
|
|
CA339989135 rs1157035640 |
1022 | I>M | No |
ClinGen gnomAD |
|
|
rs1360925259 CA339989193 |
1024 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1210565022 CA339989254 |
1025 | L>F | No |
ClinGen TOPMed |
|
|
rs1313971801 CA339989264 |
1026 | W>G | No |
ClinGen gnomAD |
|
|
CA21615215 rs1044721730 |
1027 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1380837670 CA339989438 |
1032 | T>I | No |
ClinGen gnomAD |
|
|
rs1380837670 CA339989433 |
1032 | T>N | No |
ClinGen gnomAD |
|
|
rs768591411 CA804967 |
1033 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768591411 CA339989440 |
1033 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA804968 rs554080961 |
1035 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA21615237 rs567571801 |
1037 | R>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA339989595 rs1279765893 |
1037 | R>H | No |
ClinGen gnomAD |
|
|
rs761347938 CA804969 |
1041 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339991063 rs1476417148 |
1043 | E>K | No |
ClinGen gnomAD |
|
|
rs150348829 CA804974 |
1044 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339991089 rs1396027098 |
1044 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs941171235 CA21615752 |
1045 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA339991135 rs1409228094 |
1046 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs113943603 CA21615760 |
1048 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1277663114 CA339991215 |
1051 | K>I | No |
ClinGen TOPMed |
|
|
CA21615766 rs998222365 |
1052 | R>K | No |
ClinGen TOPMed |
|
|
rs1427866061 CA339991243 |
1053 | F>L | No |
ClinGen gnomAD |
|
|
CA21615769 rs1030316912 |
1054 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA339991282 rs1294786982 |
1055 | T>A | No |
ClinGen TOPMed |
|
|
CA804976 rs764592183 |
1056 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA339991322 rs1412531575 |
1057 | L>I | No |
ClinGen TOPMed |
|
|
CA339991319 rs1412531575 |
1057 | L>V | No |
ClinGen TOPMed |
|
|
CA339991374 rs1338338300 |
1060 | C>R | No |
ClinGen gnomAD |
|
|
CA21615796 rs756374612 |
1061 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA804977 rs756374612 |
1061 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA339991396 rs1401873202 |
1062 | A>D | No |
ClinGen TOPMed |
|
|
CA339991391 rs1222453546 |
1062 | A>T | No |
ClinGen gnomAD |
|
|
rs757319717 CA804978 |
1063 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA804979 rs137983611 |
1064 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA21615808 rs780073816 |
1064 | I>V | No |
ClinGen gnomAD |
|
|
rs1372727560 CA339991433 |
1065 | Q>R | No |
ClinGen gnomAD |
|
|
rs549750825 CA804980 |
1067 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339991462 rs1388472093 |
1068 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs989242908 CA21615821 |
1068 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA339991540 rs1195463031 |
1073 | K>N | No |
ClinGen TOPMed |
|
|
rs1264089966 CA339991533 |
1073 | K>R | No |
ClinGen TOPMed |
|
|
CA339991550 rs1570287457 |
1074 | V>G | No |
ClinGen Ensembl |
|
|
CA339991554 rs1383479936 |
1075 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs913547597 CA21615825 |
1075 | R>P | No |
ClinGen gnomAD |
|
|
rs913547597 CA339991556 |
1075 | R>Q | No |
ClinGen gnomAD |
|
|
CA339991561 rs1437766755 |
1076 | G>R | No |
ClinGen gnomAD |
|
|
CA339991575 rs1225681045 |
1077 | L>V | No |
ClinGen gnomAD |
|
|
CA339991589 rs1360682344 |
1078 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA339991647 rs1234379967 |
1082 | V>A | No |
ClinGen gnomAD |
|
|
rs749440223 CA804981 |
1082 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339991680 rs1487100218 |
1084 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA804982 rs769033375 |
1084 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278389515 CA339991714 |
1085 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 1086 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1261067423 CA339991745 |
1087 | M>V | No |
ClinGen gnomAD |
|
|
rs982306219 CA21615882 |
1088 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1158458753 CA339991947 |
1089 | E>G | No |
ClinGen gnomAD |
|
|
rs1253773413 CA339991922 |
1089 | E>K | No |
ClinGen gnomAD |
|
|
rs1029704184 CA21615888 |
1090 | I>T | No |
ClinGen Ensembl |
|
|
CA339991953 rs1557820442 |
1090 | I>V | No |
ClinGen Ensembl |
|
|
rs764568140 CA804993 |
1091 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs927981363 CA21615894 |
1091 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA339992012 rs1455253605 |
1092 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1177888647 CA339992041 |
1093 | L>R | No |
ClinGen gnomAD |
|
|
rs1401445756 CA339992210 |
1096 | D>G | No |
ClinGen TOPMed |
|
|
rs1163308231 CA339992237 |
1098 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs147144310 CA21615902 |
1103 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs199613598 CA804996 |
1103 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA21615913 rs909953023 |
1105 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA339992461 rs1349171718 |
1105 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA339992520 rs1467898547 |
1107 | H>Y | No |
ClinGen TOPMed |
|
|
CA339992695 rs1331195380 |
1112 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA21615919 rs896965765 |
1113 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1481527046 CA339992751 |
1114 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA339992760 rs1481527046 |
1114 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1234201771 CA339992802 |
1116 | K>E | No |
ClinGen TOPMed |
|
|
rs866569463 CA21615927 |
1117 | K>E | No |
ClinGen Ensembl |
|
|
CA339992833 rs1471538294 |
1117 | K>M | No |
ClinGen gnomAD |
|
|
CA21615930 rs982144488 |
1118 | K>M | No |
ClinGen Ensembl |
|
|
CA339992877 rs1200991052 |
1119 | V>E | No |
ClinGen gnomAD |
|
|
rs138627849 CA805001 |
1120 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339992937 rs1173576891 |
1121 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 1121 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339992967 rs1355903791 |
1122 | E>D | No |
ClinGen gnomAD |
|
|
CA339992971 rs1462875953 |
1123 | G>D | No |
ClinGen gnomAD |
|
|
CA339993000 rs1354192451 |
1124 | E>D | No |
ClinGen TOPMed |
|
|
CA339992978 rs1369259367 |
1124 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1407240938 CA339993026 |
1125 | L>R | No |
ClinGen gnomAD |
|
|
rs1335252588 CA339993001 |
1125 | L>V | No |
ClinGen gnomAD |
|
|
CA805002 rs536206019 |
1127 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA805003 rs781315362 |
1127 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs576663347 CA21615958 |
1131 | V>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs762168729 CA21615961 |
1132 | R>C | No |
ClinGen gnomAD |
|
|
CA21615964 rs772518661 |
1132 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA21615967 rs772518661 |
1132 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1188190132 CA339993422 |
1135 | Q>H | No |
ClinGen TOPMed |
|
|
rs540650065 CA21619336 |
1137 | N>I | No |
ClinGen Ensembl |
|
|
rs1292491243 CA339996821 |
1139 | S>P | No |
ClinGen gnomAD |
|
|
CA21619338 rs924468299 |
1142 | K>E | No |
ClinGen gnomAD |
|
|
rs1458760648 CA339996918 |
1142 | K>N | No |
ClinGen gnomAD |
|
|
rs1218755795 CA339996915 |
1142 | K>R | No |
ClinGen gnomAD |
|
|
rs185084915 CA805006 |
1146 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1486008206 CA339997144 |
1148 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs755016222 CA805007 |
1148 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755016222 CA21619342 |
1148 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1149 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1150 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1028303850 CA339997255 |
1152 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1446895272 CA339997281 |
1152 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA21619345 rs1028303850 |
1152 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA21619347 rs778819870 |
1152 | K>R | No |
ClinGen gnomAD |
|
|
CA339997257 rs778819870 |
1152 | K>T | No |
ClinGen gnomAD |
|
|
CA21619352 rs568161071 |
1154 | T>A | No |
ClinGen Ensembl |
|
|
CA21619354 rs917358696 |
1154 | T>I | No |
ClinGen TOPMed |
|
|
CA805008 rs188867195 |
1155 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1164534145 CA339997359 |
1155 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA805009 rs774041864 |
1156 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs185321354 CA805011 |
1159 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339997461 rs1470271313 |
1159 | Y>H | No |
ClinGen TOPMed |
|
|
rs1470271313 CA339997454 |
1159 | Y>N | No |
ClinGen TOPMed |
|
|
CA21619363 rs899384203 |
1163 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs552593547 CA21619364 |
1163 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA339997620 rs1318851687 |
1164 | A>P | No |
ClinGen gnomAD |
|
|
rs777172099 CA21619372 |
1168 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777172099 CA805012 |
1168 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339997729 rs1557833740 |
1169 | K>E | No |
ClinGen Ensembl |
|
|
CA21619375 rs566733912 |
1172 | R>* | No |
ClinGen 1000Genomes gnomAD |
|
|
rs762334333 CA805013 |
1172 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535416216 CA21619378 |
1173 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA21619386 rs866907131 |
1174 | Q>H | No |
ClinGen TOPMed |
|
|
rs979996668 CA21619380 |
1174 | Q>K | No |
ClinGen TOPMed |
|
|
rs930287608 CA21619390 |
1177 | S>* | No |
ClinGen TOPMed |
|
|
CA339966878 rs1192881402 |
1181 | P>L | No |
ClinGen TOPMed |
|
|
CA339966871 rs1373886518 |
1181 | P>S | No |
ClinGen gnomAD |
|
|
rs527468596 CA21594350 |
1182 | S>R | No |
ClinGen 1000Genomes |
|
|
rs894255203 CA339966893 |
1182 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA339966896 rs1285857725 |
1183 | R>G | No |
ClinGen gnomAD |
|
|
CA339966899 rs1325285681 |
1183 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA339966901 rs1325285681 |
1183 | R>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1184 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA21594366 rs987746970 |
1185 | M>I | No |
ClinGen TOPMed |
|
|
CA339966918 rs1557845043 |
1185 | M>L | No |
ClinGen Ensembl |
|
|
CA339966981 rs1441100885 |
1190 | P>T | No |
ClinGen gnomAD |
|
|
rs1209302065 CA339966992 |
1191 | T>A | No |
ClinGen gnomAD |
|
|
rs1307329906 CA339966995 |
1191 | T>I | No |
ClinGen TOPMed |
|
|
rs761031992 CA21594390 |
1192 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761031992 CA805021 |
1192 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339967010 rs1557845106 |
1193 | R>G | No |
ClinGen Ensembl |
|
|
rs1472516635 CA339967019 |
1193 | R>S | No |
ClinGen gnomAD |
|
|
CA339967044 rs1557845135 |
1195 | N>K | No |
ClinGen Ensembl |
|
|
rs1431490044 CA339967039 |
1195 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA339967076 rs1190101038 |
1198 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 1199 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA805022 rs756123823 |
1199 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA805023 rs74787041 |
1200 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs74787041 CA339967103 |
1200 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339967122 rs1461259972 |
1202 | R>T | No |
ClinGen TOPMed |
|
|
CA339967129 rs1178068971 |
1203 | I>F | No |
ClinGen TOPMed |
|
|
CA21594406 rs1042283067 |
1204 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1409097023 CA339967145 |
1205 | E>G | No |
ClinGen gnomAD |
|
|
rs902336858 CA21594409 |
1206 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs189527806 CA21594410 |
1207 | Q>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA21594411 rs1056388001 |
1208 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA805024 rs191428531 |
1208 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1056388001 CA339967171 |
1208 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA339967204 rs1342352925 |
1211 | I>T | No |
ClinGen gnomAD |
|
|
rs867955694 CA21594422 |
1213 | R>C | No |
ClinGen TOPMed |
|
|
rs1216701248 CA339967226 |
1213 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1483032535 CA339967244 |
1215 | R>K | No |
ClinGen gnomAD |
|
|
CA21594439 rs796998713 |
1216 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA21594440 rs1030209681 |
1217 | Q>E | No |
ClinGen Ensembl |
|
| TCGA novel | 1222 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339967340 rs1490553255 |
1223 | Q>* | No |
ClinGen gnomAD |
|
|
rs1376145509 CA339967352 |
1224 | V>I | No |
ClinGen gnomAD |
|
|
CA21594441 rs1007380063 |
1225 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs183565621 CA21594463 |
1228 | H>D | No |
ClinGen 1000Genomes |
|
|
rs958169445 CA339967413 |
1229 | T>I | No |
ClinGen Ensembl |
|
|
CA21594478 rs958169445 |
1229 | T>N | No |
ClinGen Ensembl |
|
|
rs1428846471 CA339967419 |
1230 | L>F | No |
ClinGen gnomAD |
|
|
rs1020925682 CA21594490 |
1231 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1322238912 CA339967449 |
1233 | V>D | No |
ClinGen gnomAD |
|
|
CA339967444 rs1386845450 |
1233 | V>I | No |
ClinGen gnomAD |
|
|
CA339967456 rs1432407710 |
1234 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs966708758 CA21594501 |
1234 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1270380033 CA339967539 |
1240 | N>D | No |
ClinGen gnomAD |
|
|
CA339967542 rs1341957202 |
1240 | N>S | No |
ClinGen gnomAD |
|
|
rs537854344 CA21594516 |
1241 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA21594524 rs537854344 |
1241 | S>Y | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA805027 rs758099362 |
1242 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339967562 rs1209343505 |
1243 | V>E | No |
ClinGen gnomAD |
|
|
CA339967560 rs1209343505 |
1243 | V>G | No |
ClinGen gnomAD |
|
|
CA21594529 rs991028364 |
1246 | E>K | No |
ClinGen Ensembl |
|
|
CA339967590 rs1570392693 |
1247 | V>G | No |
ClinGen Ensembl |
|
|
CA339967604 rs1414314927 |
1249 | T>I | No |
ClinGen TOPMed |
|
|
CA339967606 rs1448782966 |
1250 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA339967607 rs1448782966 |
1250 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA339967618 rs1570392760 |
1251 | N>C | No |
ClinGen Ensembl |
No associated diseases with Q96MR6
5 regional properties for Q96MR6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | WD40 repeat | 140 - 181 | IPR001680-1 |
| repeat | WD40 repeat | 330 - 367 | IPR001680-2 |
| repeat | WD40 repeat | 378 - 457 | IPR001680-3 |
| repeat | WD40 repeat | 501 - 582 | IPR001680-4 |
| repeat | WD40 repeat | 627 - 667 | IPR001680-5 |
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
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 |
|---|---|---|---|---|
| Q9D180 | Cfap57 | Cilia- and flagella-associated protein 57 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSAVVAQTLH | VFGLRSHVAN | NIFYFDEQII | IFPSGNHCVK | YNVDQKWQKF | IPGSEKSQGM |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LALSISPNRR | YLAISETVQE | KPAITIYELS | SIPCRKRKVL | NNFDFQVQKF | ISMAFSPDSK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YLLAQTSPPE | SNLVYWLWEK | QKVMAIVRID | TQNNPVYQVS | FSPQDNTQVC | VTGNGMFKLL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RFAEGTLKQT | SFQRGEPQNY | LAHTWVADDK | IVVGTDTGKL | FLFESGDQRW | ETSIMVKEPT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NGSKSLDVIQ | ESESLIEFPP | VSSPLPSYEQ | MVAASSHSQM | SMPQVFAIAA | YSKGFACSAG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PGRVLLFEKM | EEKDFYRESR | EIRIPVDPQS | NDPSQSDKQD | VLCLCFSPSE | ETLVASTSKN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QLYSITMSLT | EISKGEPAHF | EYLMYPLHSA | PITGLATCIR | KPLIATCSLD | RSIRLWNYET |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NTLELFKEYQ | EEAYSISLHP | SGHFIVVGFA | DKLRLMNLLI | DDIRSFKEYS | VRGCGECSFS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NGGHLFAAVN | GNVIHVYTTT | SLENISSLKG | HTGKIRSIVW | NADDSKLISG | GTDGAVYEWN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LSTGKRETEC | VLKSCSYNCV | TVSPDAKIIF | AVGSDHTLKE | IADSLILREI | SAFDVTYTAI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VISHSGRMMF | VGTSVGTIRA | MKYPLPLQKE | FNEYQAHAGP | ITKMLLTFDD | QFLLTAAEDG |
| 670 | 680 | 690 | 700 | 710 | 720 |
| CLFTWKVFDK | DGRGIKRERE | VGFAEEVLVT | KTDMEEKAQV | MLELKTRVEE | LKMENEYQLR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LKDMNYSEKI | KELTDKFIQE | MESLKTKNQV | LRTEKEKQDV | YHHEHIEDLL | DKQSRELQDM |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ECCNNQKLLL | EYEKYQELQL | KSQRMQEEYE | KQLRDNDETK | SQALEELTEF | YEAKLQEKTT |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LLEEAQEDVR | QQLREFEETK | KQIEEDEDRE | IQDIKTKYEK | KLRDEKESNL | RLKGETGIMR |
| 910 | 920 | 930 | 940 | 950 | 960 |
| KKFSSLQKEI | EERTNDIETL | KGEQMKLQGV | IKSLEKDIQG | LKREIQERDE | TIQDKEKRIY |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| DLKKKNQELG | KFKFVLDYKI | KELKKQIEPR | ENEIRVMKEQ | IQEMEAELEN | FHKQNTQLEL |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| NITELWQKLR | ATDQEMRRER | QKERDLEALV | KRFKTDLHNC | VAYIQEPRLL | KEKVRGLFEK |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| YVQRADMVEI | AGLNTDLQQE | YTRQREHLER | NLATLKKKVV | KEGELHRTDY | VRIMQENVSL |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| IKEINELRRE | LKFTRSQVYD | LEAALKLTKK | VRPQEVSETE | PSRDMLSTAP | TARLNEQEET |
| 1210 | 1220 | 1230 | 1240 | ||
| GRIIEMQRLE | IQRLRDQIQE | QEQVTGFHTL | AGVRLPSLSN | SEVDLEVKTN |