Q569K6
PR
Gene name |
CCDC157 (KIAA1656) |
Protein name |
Coiled-coil domain-containing protein 157 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:550631 |
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 Q569K6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q569K6-F1 | Predicted | AlphaFoldDB |
740 variants for Q569K6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779829926 CA10180235 |
2 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411178008 rs1601724148 |
3 | H>P | No |
ClinGen Ensembl |
|
|
CA411178016 rs1190253780 |
3 | H>Q | No |
ClinGen TOPMed |
|
|
CA411178033 rs1487992519 |
4 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA411178072 rs1264991819 |
6 | G>V | No |
ClinGen gnomAD |
|
|
CA411178105 rs1234046856 |
8 | Q>* | No |
ClinGen TOPMed |
|
|
rs557415482 CA10180237 |
9 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA323166793 rs557415482 |
9 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA411178125 rs1569184482 |
9 | A>T | No |
ClinGen Ensembl |
|
|
rs1414501561 CA411178190 |
11 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1414501561 CA411178192 |
11 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10180238 rs773932430 |
15 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1055605178 CA323166822 |
15 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs9606721 CA10180239 |
16 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1420463988 CA411178279 |
16 | T>I | No |
ClinGen gnomAD |
|
|
rs1420463988 CA411178276 |
16 | T>R | No |
ClinGen gnomAD |
|
|
CA323166852 rs947224409 |
17 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1569184535 CA411178335 |
19 | T>I | No |
ClinGen Ensembl |
|
|
CA10180241 rs773064591 |
20 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180242 rs759965965 |
20 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs763539503 CA10180245 |
22 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1475852307 CA411178648 |
26 | V>A | No |
ClinGen gnomAD |
|
|
CA10180248 rs573189517 |
26 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368016774 CA10180249 |
28 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411179260 rs1473772976 |
30 | S>C | No |
ClinGen gnomAD |
|
|
CA10180250 rs540507025 |
31 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10180251 rs755867888 |
31 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180254 rs61732296 |
32 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10180253 rs61732296 |
32 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771765439 CA10180257 |
33 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs374803463 CA10180256 COSM86294 |
33 | G>R | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1361264621 CA411179327 |
34 | P>A | No |
ClinGen gnomAD |
|
|
rs200955387 CA10180258 |
36 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10180259 rs145057312 |
36 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 37 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770006012 CA10180261 |
38 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs372117054 CA10180262 |
38 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10180260 rs770006012 |
38 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs774775136 CA10180264 |
40 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA323167014 rs5753099 |
43 | P>L | No |
ClinGen TOPMed |
|
|
rs1207778203 CA411179473 |
43 | P>S | No |
ClinGen TOPMed |
|
|
rs767629137 CA10180266 |
44 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228340330 CA411179489 |
44 | D>G | No |
ClinGen Ensembl |
|
|
rs750607091 CA10180267 |
45 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs201763455 COSM333389 CA10180269 |
45 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA10180268 rs201763455 |
45 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10180270 rs199911862 |
46 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199951971 CA10180271 |
47 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411179519 rs199951971 |
47 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778897051 CA10180272 |
49 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752731939 CA10180273 |
50 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs740223 CA411179580 |
51 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs740223 VAR_060124 CA10180275 |
51 | D>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs528762178 CA10180276 |
53 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1413153832 CA411179645 |
54 | A>T | No |
ClinGen gnomAD |
|
|
CA411179667 rs1456431799 |
55 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 56 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10180278 rs568353300 |
59 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749647847 CA10180280 |
60 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA411179767 rs1332875557 CA411179768 |
60 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs749647847 CA10180279 |
60 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1237804806 CA411179795 |
61 | H>R | No |
ClinGen gnomAD |
|
|
rs1374016655 CA411179772 |
61 | H>Y | No |
ClinGen gnomAD |
|
|
rs1275092968 CA411179815 |
62 | V>L | No |
ClinGen gnomAD |
|
|
rs529483498 CA10180281 |
63 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs529483498 CA10180282 |
63 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10180284 rs151177194 |
64 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411179899 rs1318592121 |
65 | D>E | No |
ClinGen gnomAD |
|
|
rs1209587606 CA411179966 |
67 | E>D | No |
ClinGen TOPMed |
|
|
rs766620698 CA10180286 |
67 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766620698 CA411179936 |
67 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 67 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10180287 rs754066462 |
69 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA10180288 rs539513309 |
69 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10180290 rs752632130 |
70 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758422993 CA10180291 |
70 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA10180293 rs751107362 |
73 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756772183 CA10180294 |
74 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180297 rs147562085 CA411180171 |
75 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10180296 rs147562085 |
75 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1434012458 CA411180197 |
76 | L>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA411180234 rs1282472296 |
76 | L>P | No |
ClinGen gnomAD |
|
|
rs1340912079 CA411180250 |
77 | L>R | No |
ClinGen gnomAD |
|
|
CA10180300 rs772574462 |
80 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs147104395 CA10180302 |
82 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA323167140 rs141865302 |
82 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA411180407 rs141865302 |
82 | D>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10180322 rs770994150 CA10180321 |
83 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263084191 CA411181460 |
84 | L>F | No |
ClinGen gnomAD |
|
|
COSM1199900 CA411181464 rs1424965606 |
84 | L>P | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs535923030 CA323169218 |
90 | S>G | No |
ClinGen Ensembl |
|
|
CA10180323 rs145362968 |
90 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411181603 rs1471542129 |
90 | S>R | No |
ClinGen gnomAD |
|
|
rs1162502302 CA411181610 |
91 | C>R | No |
ClinGen gnomAD |
|
|
rs748338694 CA323169227 |
93 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 94 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs978190848 CA323169229 |
95 | L>S | No |
ClinGen TOPMed |
|
|
rs770134223 CA10180324 |
97 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA411181826 rs1350429859 |
97 | N>K | No |
ClinGen TOPMed |
|
|
rs1296189253 CA411181842 |
98 | L>I | No |
ClinGen gnomAD |
|
|
CA411181886 rs1306550970 |
99 | G>D | No |
ClinGen TOPMed |
|
|
CA10180329 rs761682812 |
103 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA323169241 rs985375453 |
104 | M>T | No |
ClinGen TOPMed |
|
|
CA10180330 rs149198377 |
105 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1346855344 CA411182048 |
105 | P>S | No |
ClinGen TOPMed |
|
|
rs200415444 CA10180332 |
106 | P>L | No |
ClinGen 1000Genomes ExAC |
|
|
CA10180334 rs186224427 |
107 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs186224427 CA411182082 |
107 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753539580 CA10180335 |
108 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1202660352 CA411182092 |
108 | Q>R | No |
ClinGen gnomAD |
|
|
CA411182129 rs1459575510 |
110 | A>S | No |
ClinGen gnomAD |
|
|
rs143332576 CA10180336 |
110 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781755871 CA10180340 |
111 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199625462 CA10180339 |
111 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745920990 CA10180341 |
112 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 112 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10180342 rs770041159 |
113 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA411182214 rs1181392465 |
114 | M>I | No |
ClinGen TOPMed |
|
|
CA10180346 rs368161356 |
116 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10180345 rs368161356 |
116 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10180348 rs771901392 |
119 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA323169420 rs1013588251 |
119 | T>P | No |
ClinGen Ensembl |
|
|
rs760157070 CA10180350 |
121 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770842176 CA10180349 |
121 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765915278 CA10180351 |
122 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753449486 COSM1682197 CA411182389 |
122 | R>H | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10180352 rs753449486 |
122 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180354 rs764451155 |
124 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1238195978 CA411182459 |
124 | W>C | No |
ClinGen gnomAD |
|
|
rs759200251 CA10180353 |
124 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA10180356 rs757697852 |
125 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751864000 CA10180355 |
125 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180357 CA411182537 rs781525610 |
126 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249427285 CA411182530 |
126 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1178035075 CA411182543 |
127 | L>P | No |
ClinGen gnomAD |
|
|
CA10180358 rs751005377 |
128 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1171315028 CA411182577 |
129 | R>M | No |
ClinGen gnomAD |
|
|
rs780299712 CA10180362 |
129 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180361 rs756219522 |
129 | R>W | No |
ClinGen ExAC |
|
|
CA10180364 rs769007761 |
131 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180365 rs542834702 |
132 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1015439839 CA323169573 |
134 | H>P | No |
ClinGen gnomAD |
|
|
rs771952888 CA10180367 |
134 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1015439839 CA411182679 |
134 | H>R | No |
ClinGen gnomAD |
|
|
CA411182678 rs1299565386 |
134 | H>Y | No |
ClinGen gnomAD |
|
|
CA10180368 rs772993504 |
135 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411182740 rs1601732189 |
136 | Q>H | No |
ClinGen Ensembl |
|
|
CA10180369 rs760637343 |
137 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs913648881 CA323169602 |
139 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA411182776 rs913648881 |
139 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10180371 rs776121889 |
140 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411182808 rs1601732284 |
140 | Q>P | No |
ClinGen Ensembl |
|
|
rs746880866 CA10180387 |
141 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA10180389 rs776605719 |
142 | G>E | No |
ClinGen ExAC |
|
|
CA10180388 rs770850304 |
142 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1300509921 CA411183044 |
143 | A>V | No |
ClinGen gnomAD |
|
|
rs950434502 CA323170210 |
144 | N>K | No |
ClinGen Ensembl |
|
|
CA411183080 rs1359036446 |
145 | Q>* | No |
ClinGen gnomAD |
|
|
rs1280859430 CA411183133 |
147 | E>* | No |
ClinGen TOPMed |
|
|
rs769382809 CA10180391 |
149 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180390 rs745358913 |
149 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1601734305 CA411183189 |
150 | T>P | No |
ClinGen Ensembl |
|
|
CA10180394 rs767712736 |
151 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773720859 CA10180395 |
154 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180396 rs773720859 |
154 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 156 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1441739244 CA411184524 |
157 | G>D | No |
ClinGen gnomAD |
|
|
rs143249037 CA10180399 |
158 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10180398 rs143249037 |
158 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10180400 rs138178191 |
158 | E>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369839266 COSM1740750 CA10180401 |
160 | A>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA10180403 rs371537533 |
161 | R>S | No |
ClinGen ESP ExAC TOPMed |
|
|
CA10180404 rs542062276 |
162 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1473828783 CA411184578 |
163 | P>S | No |
ClinGen TOPMed |
|
|
CA411184585 rs1601734452 |
164 | E>A | No |
ClinGen Ensembl |
|
|
rs1181889383 CA411184599 |
166 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 169 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10180407 rs781075736 |
172 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs769135534 CA10180409 |
173 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA323170307 rs775075127 |
174 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA10180410 rs775075127 |
174 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA323170336 rs1042663301 |
175 | S>P | No |
ClinGen Ensembl |
|
|
CA10180411 rs748821168 |
177 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA411184695 rs1446998001 |
182 | Q>E | No |
ClinGen gnomAD |
|
|
CA323170375 rs924087448 |
182 | Q>H | No |
ClinGen TOPMed |
|
|
CA10180415 rs116038577 |
182 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411184702 rs1216856741 |
183 | T>N | No |
ClinGen TOPMed |
|
|
CA411184699 rs1601734602 |
183 | T>P | No |
ClinGen Ensembl |
|
|
CA323170386 rs150581663 |
184 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150581663 CA10180416 |
184 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10180417 rs201095345 |
184 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10180418 rs777240506 |
186 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180419 rs760110668 |
188 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs5753102 CA323170401 COSM3800129 |
188 | E>Q | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs139611413 CA323170428 |
189 | S>N | No |
ClinGen ESP gnomAD |
|
|
CA10180420 rs765173097 |
190 | I>L | No |
ClinGen ExAC gnomAD |
|
|
VAR_038999 CA10180421 rs12167903 |
191 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 192 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1180702074 CA411184767 |
193 | R>S | No |
ClinGen gnomAD |
|
|
CA411184764 rs1601734707 |
193 | R>T | No |
ClinGen Ensembl |
|
|
rs1601734733 CA411184771 |
194 | A>G | No |
ClinGen Ensembl |
|
|
CA10180422 rs758464730 |
195 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA10180423 rs764276334 |
196 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA10180424 rs528157435 |
197 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs139609945 CA323170475 |
201 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10180426 rs139609945 |
201 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1027421677 CA323170488 |
202 | T>N | No |
ClinGen Ensembl |
|
|
rs1465723901 CA411184826 |
203 | F>L | No |
ClinGen gnomAD |
|
|
rs1360077071 CA411184831 |
204 | K>R | No |
ClinGen TOPMed |
|
|
rs199636814 CA323170494 |
206 | T>N | No |
ClinGen Ensembl |
|
|
CA411184852 rs1330442266 |
207 | R>T | No |
ClinGen gnomAD |
|
|
CA10180428 rs756078377 |
208 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180429 rs756078377 |
208 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411184864 rs1291026105 |
209 | V>D | No |
ClinGen gnomAD |
|
|
CA10180430 rs748822040 |
210 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1451880768 CA411184868 |
210 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs768333452 CA411184878 |
211 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA10180431 rs768333452 |
211 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs747835669 CA10180433 |
212 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1262467204 CA411184887 |
213 | T>A | No |
ClinGen gnomAD |
|
|
CA10180434 rs140214029 |
214 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10180435 rs536552530 |
216 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM3405585 rs971003042 CA323170550 |
217 | A>T | Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1437392546 CA411184922 |
219 | V>L | No |
ClinGen gnomAD |
|
|
rs770319950 COSM1199902 CA10180437 |
220 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1199866107 CA411184929 |
220 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA411184949 rs763055857 |
223 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180439 rs763055857 |
223 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751729371 CA10180441 |
224 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA10180443 COSM1199904 rs140264936 |
225 | A>T | Variant assessed as Somatic; 9.24e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs370198354 CA411184974 |
227 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180444 rs370198354 COSM3694006 |
227 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA411184980 rs1601735209 |
228 | Q>* | No |
ClinGen Ensembl |
|
|
CA10180446 rs199794819 |
229 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs370543635 CA10180447 |
230 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1282537827 CA411184994 |
230 | S>I | No |
ClinGen gnomAD |
|
|
rs370543635 CA323170648 |
230 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10180449 rs151124890 |
233 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411185022 rs1477697427 |
234 | V>G | No |
ClinGen TOPMed |
|
|
CA10180450 rs747745686 |
235 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA10180453 rs746219940 |
237 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs777348324 CA10180452 |
237 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs777348324 CA411185036 |
237 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1410447638 CA411185040 |
238 | V>I | No |
ClinGen gnomAD |
|
|
CA10180456 rs776024216 |
239 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs776024216 CA10180455 |
239 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10180457 rs373895281 |
240 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411185054 rs373895281 |
240 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411185061 rs1489521397 |
241 | L>P | No |
ClinGen gnomAD |
|
|
rs143384771 CA323170718 |
242 | C>Y | No |
ClinGen 1000Genomes gnomAD |
|
|
CA411185075 rs1488627541 |
243 | Q>R | No |
ClinGen TOPMed |
|
|
rs774416907 CA10180458 |
244 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 245 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1245804635 CA411185116 |
246 | N>K | No |
ClinGen TOPMed |
|
|
CA411185132 rs1354181307 |
248 | P>S | No |
ClinGen gnomAD |
|
|
CA411185222 rs1601735497 |
255 | Q>* | No |
ClinGen Ensembl |
|
|
rs750662758 CA10180461 |
255 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 259 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411185294 rs1235664314 |
260 | D>Y | No |
ClinGen gnomAD |
|
|
rs760492483 CA10180462 |
263 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs766122756 CA10180463 |
263 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs753761288 CA10180464 |
265 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258551779 CA411185367 |
265 | R>S | No |
ClinGen TOPMed |
|
|
CA411185375 rs1218005454 |
266 | P>S | No |
ClinGen TOPMed |
|
|
rs754979631 CA10180465 |
268 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754979631 CA411185414 |
268 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 268 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411185460 rs1194902256 |
271 | T>S | No |
ClinGen gnomAD |
|
|
rs149837002 CA10180469 |
272 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA323170798 rs1004947996 |
273 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs879034884 CA323170810 |
274 | R>C | No |
ClinGen Ensembl |
|
|
rs746672484 COSM1033262 CA411185491 |
274 | R>H | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10180470 rs746672484 |
274 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180472 rs145788485 |
275 | W>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs553097316 CA10180471 |
275 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1187709770 CA411185547 |
277 | A>T | No |
ClinGen gnomAD |
|
|
rs1332616130 CA411185578 |
278 | E>D | No |
ClinGen TOPMed |
|
|
CA10180473 rs749724460 |
278 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA411185641 rs769144873 |
280 | R>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA411185649 rs1421902665 |
280 | R>S | No |
ClinGen TOPMed |
|
|
rs769144873 CA10180474 |
280 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs774892887 CA10180475 |
281 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748207336 CA411185745 |
284 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748207336 CA10180476 |
284 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10180478 rs145673028 |
285 | R>C | Variant assessed as Somatic; 0.0001396 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs942927542 CA323170862 |
285 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1380697243 CA411185791 |
287 | S>T | No |
ClinGen gnomAD |
|
|
CA10180481 rs200598609 |
288 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138237270 CA10180480 |
288 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10180484 rs541801601 |
291 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1206135965 CA411186022 |
297 | L>V | No |
ClinGen gnomAD |
|
|
rs763533762 CA10180486 |
298 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs751163184 CA10180487 |
299 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA323170928 rs547209278 |
300 | A>T | No |
ClinGen Ensembl |
|
|
rs1474933755 CA411186107 |
301 | E>K | No |
ClinGen gnomAD |
|
|
CA411186123 rs1300845374 |
302 | G>R | No |
ClinGen TOPMed |
|
|
CA323170937 rs867844733 |
303 | Q>* | No |
ClinGen Ensembl |
|
|
CA10180489 rs780962836 |
305 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA411186232 rs1179473729 |
306 | G>D | No |
ClinGen gnomAD |
|
|
rs749636612 CA10180490 |
307 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755387549 CA10180491 |
308 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs779364454 CA10180492 |
309 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA323170959 rs563598346 |
309 | K>R | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1569189166 CA411186298 |
310 | Q>* | No |
ClinGen Ensembl |
|
|
CA411186326 rs772145253 COSM1734154 |
311 | A>E | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs748689658 CA10180493 |
311 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180494 rs772145253 |
311 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10180496 rs747188480 |
312 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA411186364 rs1390026817 |
313 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs377404857 CA10180497 |
314 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1359012945 CA411186393 |
315 | E>D | No |
ClinGen TOPMed |
|
|
rs546033949 CA10180498 |
317 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411186423 rs1569189218 |
317 | A>T | No |
ClinGen Ensembl |
|
|
CA10180499 rs546033949 |
317 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10180502 rs762811184 |
318 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA10180504 rs143230422 |
319 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1437301721 CA411186465 |
320 | Q>E | No |
ClinGen TOPMed |
|
|
CA411186518 rs1480660173 |
322 | Q>E | No |
ClinGen gnomAD |
|
|
CA411186516 rs1480660173 |
322 | Q>K | No |
ClinGen gnomAD |
|
|
CA411186548 rs1201467081 |
323 | G>E | No |
ClinGen gnomAD |
|
|
CA10180507 rs148283823 |
325 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411186567 rs1427176749 |
325 | R>W | No |
ClinGen gnomAD |
|
|
CA10180508 rs750119069 |
326 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA411186586 rs1356359976 |
326 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs755299220 CA10180509 |
327 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs546676831 CA10180510 |
327 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1024004607 CA323171033 |
329 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA411186752 rs1295598277 |
332 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA10180513 rs778412227 |
333 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA10180514 rs747048768 |
334 | Q>H | No |
ClinGen ExAC |
|
|
CA411186832 rs1224745501 |
335 | C>F | No |
ClinGen gnomAD |
|
|
CA411186830 rs1224745501 |
335 | C>S | No |
ClinGen gnomAD |
|
|
rs771081997 CA10180515 |
335 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs971443322 CA323171071 |
337 | S>P | No |
ClinGen TOPMed |
|
|
CA411186937 rs1187060506 |
339 | W>R | No |
ClinGen gnomAD |
|
|
CA411187003 rs1426854744 |
340 | E>D | No |
ClinGen gnomAD |
|
|
rs1421690092 CA411186973 |
340 | E>K | No |
ClinGen gnomAD |
|
|
CA10180518 rs193006108 |
341 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10180520 rs369601797 |
342 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774392880 CA10180522 |
348 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs138076861 CA411187162 |
348 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA323171136 rs138076861 |
348 | T>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA411187166 rs1401096034 |
349 | E>K | No |
ClinGen gnomAD |
|
|
CA10180542 rs41296241 |
351 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755987405 CA323171702 |
351 | S>N | No |
ClinGen Ensembl |
|
|
CA10180543 rs147173226 |
355 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147173226 CA10180544 |
355 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10180545 rs760246727 |
357 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223101671 CA411187331 |
357 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 361 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1460382405 CA411187414 |
364 | L>R | No |
ClinGen TOPMed |
|
|
rs780050086 CA10180546 |
366 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763198034 CA411187482 |
368 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763198034 CA10180548 |
368 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180547 rs140381193 |
368 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10180549 rs764540776 |
369 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA411187510 rs1601738628 |
370 | S>A | No |
ClinGen Ensembl |
|
|
rs1366345300 CA411187545 |
372 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1459001156 CA411187564 |
372 | Q>H | No |
ClinGen TOPMed |
|
|
CA10180550 rs149676692 |
372 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 374 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1601738680 CA411187597 |
374 | V>G | No |
ClinGen Ensembl |
|
|
CA10180552 CA411187592 rs768202447 |
374 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs756307863 CA10180554 |
375 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1294336355 CA411187749 |
377 | K>E | No |
ClinGen gnomAD |
|
|
CA411187766 rs1357778320 |
377 | K>N | No |
ClinGen gnomAD |
|
|
rs144439139 CA10180576 |
378 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411187786 rs1263112394 |
378 | A>V | No |
ClinGen gnomAD |
|
|
rs777658110 CA10180578 |
382 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448442232 CA411187887 |
384 | E>D | No |
ClinGen gnomAD |
|
|
CA323172090 rs760012591 |
384 | E>K | No |
ClinGen Ensembl |
|
|
rs770367866 CA10180580 |
385 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770367866 CA411187895 |
385 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180579 rs746982307 |
385 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1037154269 CA323172120 |
387 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs745435347 CA10180582 |
387 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769470471 CA10180583 |
389 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA323172143 rs1023400624 |
390 | A>G | No |
ClinGen TOPMed |
|
|
rs1316239085 CA411187929 |
390 | A>T | No |
ClinGen gnomAD |
|
|
CA411187938 rs1006213402 |
391 | A>E | No |
ClinGen gnomAD |
|
|
rs1006213402 CA323172159 |
391 | A>V | No |
ClinGen gnomAD |
|
|
CA411187946 rs1381005919 |
392 | E>D | No |
ClinGen gnomAD |
|
|
CA323172174 rs866469501 |
393 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA10180589 rs199978521 |
395 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA10180591 rs772593756 |
396 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA411187969 rs1265642631 |
396 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs773808964 CA10180592 |
397 | Q>K | No |
ClinGen ExAC |
|
|
rs1326592401 CA411187976 |
397 | Q>R | No |
ClinGen TOPMed |
|
|
CA411187982 rs1601740179 |
398 | L>R | No |
ClinGen Ensembl |
|
|
rs1601740216 CA411187990 |
399 | E>G | No |
ClinGen Ensembl |
|
|
rs1392327703 CA411187999 |
400 | E>A | No |
ClinGen TOPMed |
|
|
CA411187994 rs1464075166 |
400 | E>K | No |
ClinGen gnomAD |
|
|
COSM3708204 CA411188013 rs1183791155 |
401 | Q>* | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1442538621 CA411188036 |
402 | V>G | No |
ClinGen gnomAD |
|
|
rs148797876 CA323172234 |
402 | V>M | No |
ClinGen ESP gnomAD |
|
|
CA411188038 rs1460890515 |
403 | Q>* | No |
ClinGen TOPMed |
|
|
rs1003371738 CA323172246 |
404 | Q>H | No |
ClinGen TOPMed |
|
|
CA10180597 rs371254570 |
407 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411188119 rs1471090103 |
407 | A>T | No |
ClinGen gnomAD |
|
|
rs371254570 COSM1199898 CA10180596 |
407 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA411188194 rs1470371157 |
411 | L>P | No |
ClinGen gnomAD |
|
|
CA411188189 rs1470371157 |
411 | L>Q | No |
ClinGen gnomAD |
|
|
rs956098553 CA323172272 |
413 | V>A | No |
ClinGen TOPMed |
|
|
CA411188259 rs752958427 |
415 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180601 rs752958427 |
415 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374812006 CA10180600 |
415 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1601740521 CA411188274 |
416 | L>R | No |
ClinGen Ensembl |
|
|
rs777556030 CA10180604 |
418 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777556030 CA10180603 |
418 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250398564 CA411188300 |
418 | G>S | No |
ClinGen TOPMed |
|
|
CA411188317 rs566789301 |
419 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10180606 rs566789301 |
419 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411188329 rs1333292485 |
420 | G>S | No |
ClinGen TOPMed |
|
|
rs1410322251 CA411188343 |
421 | Q>* | No |
ClinGen TOPMed |
|
|
CA10180608 rs769223906 |
421 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs745357821 CA10180607 |
421 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs779810458 CA10180609 |
422 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA411188387 rs1236829464 |
423 | V>D | No |
ClinGen gnomAD |
|
|
CA411188388 rs1236829464 |
423 | V>G | No |
ClinGen gnomAD |
|
|
rs1439381563 CA411188384 |
423 | V>L | No |
ClinGen gnomAD |
|
|
CA10180610 rs748968695 |
425 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA411188437 rs1178599494 |
426 | A>T | No |
ClinGen gnomAD |
|
|
rs1427308869 CA411188450 |
426 | A>V | No |
ClinGen gnomAD |
|
|
CA411188458 rs533818560 |
427 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10180611 rs533818560 |
427 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs142435200 CA10180613 |
428 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10180612 rs142435200 |
428 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1307954162 CA411188487 |
429 | E>K | No |
ClinGen gnomAD |
|
|
rs1569191003 CA411188549 |
432 | K>M | No |
ClinGen Ensembl |
|
|
rs765265074 CA10180618 |
434 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs752868863 CA10180619 |
434 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 435 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140648901 CA10180620 |
435 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA411188589 rs1251577050 |
435 | A>V | No |
ClinGen gnomAD |
|
|
rs368004973 CA10180621 |
436 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA10180622 rs751342578 COSM3783546 |
436 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA10180624 rs144379228 |
438 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10180626 rs755599672 |
440 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs762969694 CA10180627 |
442 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180628 rs199564078 |
442 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1249951111 CA411188770 |
445 | E>* | No |
ClinGen gnomAD |
|
|
CA411188767 rs1249951111 |
445 | E>K | No |
ClinGen gnomAD |
|
|
rs1366606001 CA411188778 |
445 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1390162552 CA411189813 |
447 | L>M | No |
ClinGen gnomAD |
|
|
rs1033062204 CA323175002 |
448 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1406452692 CA411189889 |
451 | Q>* | No |
ClinGen gnomAD |
|
|
rs1454252344 CA411189903 |
452 | R>* | No |
ClinGen gnomAD |
|
| TCGA novel | 452 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146587812 CA10180650 |
452 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1372403327 CA411189919 |
454 | L>M | No |
ClinGen TOPMed |
|
|
CA10180652 rs556806068 |
455 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA411189953 rs1227934162 |
456 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1263833338 CA411189969 |
457 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1263833338 CA411189965 |
457 | Q>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 459 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757595844 CA10180653 |
461 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs373248410 CA10180655 |
462 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370221510 CA10180654 |
462 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10180656 rs770269558 |
465 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180657 rs569921570 |
465 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866080132 CA323175097 |
466 | E>* | No |
ClinGen gnomAD |
|
|
CA411190115 rs866080132 |
466 | E>K | No |
ClinGen gnomAD |
|
|
CA411190121 rs1429405130 |
466 | E>V | No |
ClinGen gnomAD |
|
|
CA411190146 rs1358334376 |
468 | L>M | No |
ClinGen gnomAD |
|
|
COSM1199894 CA10180658 rs749334745 |
469 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA323175102 COSM1199896 rs941199116 |
469 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA411190199 rs1283952973 |
471 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1283952973 CA411190190 |
471 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1278247500 CA411190223 |
473 | D>N | No |
ClinGen gnomAD |
|
|
rs201264202 CA10180660 |
474 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1207152444 CA411190260 |
475 | A>V | No |
ClinGen gnomAD |
|
|
rs1252607095 CA411190265 |
476 | E>K | No |
ClinGen gnomAD |
|
|
CA411190285 rs1250075366 |
477 | A>S | No |
ClinGen gnomAD |
|
|
rs1482983501 CA411190289 |
477 | A>V | No |
ClinGen gnomAD |
|
|
CA10180662 rs766248109 |
479 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180661 rs188168432 |
479 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411190311 rs1170432328 |
480 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA323175148 rs374365871 |
481 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10180663 rs368589292 |
481 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411190323 rs368589292 |
481 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766397394 CA10180665 |
482 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180667 rs753736532 |
483 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA10180666 rs753871516 |
483 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10180668 rs764865342 |
484 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1434483392 CA411190417 |
487 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs180928061 CA10180669 |
488 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10180671 rs373726022 |
489 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746192462 CA10180672 |
490 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1023649524 CA323175199 |
490 | R>W | No |
ClinGen gnomAD |
|
|
rs756507323 CA10180673 |
491 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1196048359 CA411190522 |
493 | G>E | No |
ClinGen gnomAD |
|
|
CA10180674 rs139169688 |
493 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1475508774 CA411190531 |
494 | Q>* | No |
ClinGen gnomAD |
|
|
rs1190147128 CA411190539 |
494 | Q>H | No |
ClinGen gnomAD |
|
|
CA411190534 rs1190078991 |
494 | Q>P | No |
ClinGen TOPMed |
|
|
CA411190572 rs1164117872 |
496 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1428928378 CA411190569 |
496 | Q>L | No |
ClinGen gnomAD |
|
|
CA411190585 rs1255897631 |
497 | L>P | No |
ClinGen TOPMed |
|
|
rs376030866 CA10180677 |
498 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411190601 rs1322912646 |
499 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA323175229 rs972097119 |
500 | Q>H | No |
ClinGen TOPMed |
|
|
rs538935440 CA323175231 |
501 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1364375422 CA411190753 |
509 | R>S | No |
ClinGen gnomAD |
|
|
rs772234819 CA10180697 |
512 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA10180698 rs777822342 |
512 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1483784989 CA411190779 |
513 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA411190781 rs1483784989 |
513 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA323175431 rs929736500 |
516 | Q>H | No |
ClinGen Ensembl |
|
|
rs747260037 CA10180699 |
517 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180701 rs776574437 |
519 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs150205621 CA10180702 |
519 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411190828 rs1342332683 |
521 | L>P | No |
ClinGen TOPMed |
|
|
CA10180705 rs775533622 |
522 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180706 rs536316661 |
522 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775533622 CA10180704 |
522 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 524 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10180708 rs761458479 |
524 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA323175480 rs1054579961 |
528 | L>P | No |
ClinGen Ensembl |
|
|
CA411190872 rs1173880292 |
529 | E>D | No |
ClinGen gnomAD |
|
|
rs147092496 CA411190876 |
530 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147092496 CA10180712 |
530 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143181893 CA10180711 |
530 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411190882 rs1178492877 |
531 | E>D | No |
ClinGen gnomAD |
|
|
CA10180713 rs753278989 |
531 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA10180714 rs374241130 |
533 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411190889 rs1601746033 |
533 | E>K | No |
ClinGen Ensembl |
|
|
rs777925980 CA10180715 |
534 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs777925980 CA411190896 |
534 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10180716 rs747165619 |
534 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1349319856 CA411190905 |
535 | L>P | No |
ClinGen gnomAD |
|
|
CA10180718 rs199834227 |
538 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148905933 CA10180717 |
538 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10180722 rs201925551 |
540 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201925551 CA10180721 |
540 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10180720 rs369961135 |
540 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10180723 rs749261960 |
541 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773845090 CA10180725 |
542 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs767983033 CA10180724 |
542 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs928318473 CA323175548 |
543 | V>G | No |
ClinGen gnomAD |
|
|
CA323175555 rs985056061 |
547 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1217480640 CA639387380 |
547 | D>F | No |
ClinGen gnomAD |
|
|
CA411190971 rs1432775583 |
547 | D>N | No |
ClinGen gnomAD |
|
|
rs1392385438 CA411190980 |
548 | L>R | No |
ClinGen gnomAD |
|
|
CA323175557 rs926464451 |
550 | R>M | No |
ClinGen TOPMed |
|
|
rs1459906931 CA411191000 |
551 | P>L | No |
ClinGen gnomAD |
|
|
CA10180728 rs138136556 |
552 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA10180730 rs201598906 COSM1415715 |
553 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10180731 rs753090543 |
555 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs945057855 CA323175607 |
556 | I>T | No |
ClinGen TOPMed |
|
|
CA411191027 rs1296606315 |
556 | I>V | No |
ClinGen gnomAD |
|
|
rs545605224 CA411191036 |
557 | H>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs545605224 CA10180732 |
557 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1252596728 CA411192794 |
558 | G>E | No |
ClinGen gnomAD |
|
|
rs1488222999 CA411191039 |
558 | G>R | No |
ClinGen gnomAD |
|
|
CA10180777 rs553228778 |
559 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778693612 CA10180780 |
561 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs752568000 CA10180781 |
563 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA10180783 rs777632085 |
564 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 567 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10180784 rs746508424 |
567 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA411192909 rs1226277848 |
568 | I>T | No |
ClinGen gnomAD |
|
|
CA411192916 rs574584364 |
569 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411192922 rs1411198540 |
569 | T>I | No |
ClinGen gnomAD |
|
|
CA10180785 rs574584364 |
569 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA323176443 rs909342425 |
570 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs983665895 CA323176437 |
570 | C>R | No |
ClinGen TOPMed |
|
|
CA411192960 rs1406379120 |
573 | D>A | No |
ClinGen TOPMed |
|
|
rs1184159203 CA411192977 |
574 | S>C | No |
ClinGen TOPMed |
|
|
CA10180787 rs745516237 |
577 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180789 rs374373064 |
579 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10180788 rs769072703 |
579 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1202188565 CA411193034 |
582 | E>D | No |
ClinGen TOPMed |
|
|
CA323176455 rs964352666 |
583 | R>K | No |
ClinGen TOPMed |
|
|
CA411193038 rs964352666 |
583 | R>T | No |
ClinGen TOPMed |
|
|
rs1275344196 CA411193068 |
586 | Q>* | No |
ClinGen gnomAD |
|
|
rs1261019790 CA411193072 |
586 | Q>L | No |
ClinGen TOPMed |
|
|
VAR_039000 rs2015035 CA10180790 |
587 | S>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA411193079 rs2015035 |
587 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411193094 COSM1726825 rs773633656 |
588 | N>S | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs773633656 CA10180792 |
588 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147189543 CA10180794 |
589 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10180795 rs776856740 |
590 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs759762443 CA10180796 |
591 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759762443 CA411193125 |
591 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180797 rs368250287 |
591 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138771176 CA10180800 |
593 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10180799 rs758242089 |
593 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs759356014 CA323176521 |
596 | Q>P | No |
ClinGen TOPMed |
|
|
CA411193222 rs1233208007 |
600 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs755815329 CA10180806 |
601 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180805 rs111283506 |
601 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 602 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748490536 CA10180809 |
603 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA411193270 rs1211846980 |
604 | S>L | No |
ClinGen gnomAD |
|
|
rs747484350 CA10180812 |
605 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs773722024 CA10180811 |
605 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA10180813 rs770977959 |
607 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1409597974 CA411193328 |
609 | I>M | No |
ClinGen gnomAD |
|
|
CA10180815 rs759674650 |
609 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs775733185 CA323176634 |
610 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180817 rs775733185 |
610 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376667398 CA10180816 |
610 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1025250496 COSM1732278 CA323176640 |
611 | E>* | bone [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs762684793 CA10180818 |
612 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762684793 CA411193358 |
612 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs893607964 CA323176641 |
613 | A>D | No |
ClinGen Ensembl |
|
|
rs1391754536 CA411193371 |
614 | Q>R | No |
ClinGen gnomAD |
|
|
rs763807892 CA10180819 |
615 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA10180820 rs751443395 |
616 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA323176645 rs945215906 |
616 | G>S | No |
ClinGen Ensembl |
|
|
rs1367145156 CA411193406 |
617 | G>S | No |
ClinGen gnomAD |
|
|
rs1555989703 CA411193515 |
621 | I>F | No |
ClinGen Ensembl |
|
|
rs1436534190 CA411193521 |
621 | I>M | No |
ClinGen gnomAD |
|
|
CA10180852 rs753475863 |
622 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310937739 CA411193526 |
622 | P>S | No |
ClinGen gnomAD |
|
|
rs778688355 CA10180854 |
623 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs375409410 CA10180855 |
624 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10180856 rs757683971 |
625 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1012644209 CA323177130 |
625 | R>W | No |
ClinGen TOPMed |
|
|
CA10180857 rs367731728 |
626 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10180858 rs746384042 |
626 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs367731728 CA411193564 |
626 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 627 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1483665009 CA411193613 |
631 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1483665009 CA411193614 |
631 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs780099997 CA10180861 |
633 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780099997 CA10180860 COSM139222 |
633 | G>R | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA411193655 rs1468313136 |
634 | T>I | No |
ClinGen gnomAD |
|
|
CA411193675 rs1176225194 |
636 | G>E | No |
ClinGen gnomAD |
|
|
CA323177149 rs774672344 |
638 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA10180863 rs774672344 |
638 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA411193694 rs1429997981 |
639 | P>R | No |
ClinGen TOPMed |
|
|
rs187739731 CA10180864 |
639 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772014533 CA10180865 |
640 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773226067 CA10180866 |
640 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs772014533 CA411193697 |
640 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411193717 rs1430308186 |
643 | A>D | No |
ClinGen gnomAD |
|
|
rs760694297 CA10180867 |
646 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs150721066 CA323177165 |
648 | P>S | No |
ClinGen ESP |
|
|
CA411193764 rs1205624099 |
649 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10180870 rs563550127 |
649 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138999676 CA10180884 |
650 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411193795 rs1325696841 |
650 | P>S | No |
ClinGen gnomAD |
|
|
CA10180886 rs770972497 |
652 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs956976370 CA323177235 |
652 | G>R | No |
ClinGen TOPMed |
|
|
CA10180888 rs758933529 |
656 | L>R | No |
ClinGen ExAC |
|
|
rs764829421 CA10180889 |
657 | P>S | No |
ClinGen ExAC TOPMed |
|
|
rs149857618 CA10180890 |
658 | S>N | No |
ClinGen ESP ExAC TOPMed |
|
|
rs146401337 CA10180891 |
659 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763791342 CA10180892 |
660 | R>K | No |
ClinGen ExAC |
|
|
rs139750381 CA10180894 |
661 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139750381 CA10180893 |
661 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1211393453 CA411193923 |
662 | G>S | No |
ClinGen gnomAD |
|
|
rs368079397 CA10180895 |
664 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411193947 rs1601752517 |
664 | T>P | No |
ClinGen Ensembl |
|
|
CA411193960 rs1195243541 |
665 | L>R | No |
ClinGen gnomAD |
|
|
CA323177288 rs1010842717 |
666 | L>P | No |
ClinGen TOPMed |
|
|
rs754954495 CA10180897 |
667 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754954495 CA10180898 |
667 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411194016 rs1336376393 |
671 | T>A | No |
ClinGen TOPMed |
|
|
rs758681736 CA10180902 |
671 | T>R | No |
ClinGen ExAC TOPMed |
|
|
CA411194030 rs1601752650 |
672 | S>F | No |
ClinGen Ensembl |
|
|
rs778192456 CA10180904 |
672 | S>P | No |
ClinGen ExAC TOPMed |
|
|
rs776387734 CA10180907 |
673 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180906 rs770884624 |
673 | P>S | No |
ClinGen ExAC TOPMed |
|
|
rs966694679 CA323177310 |
675 | R>Q | No |
ClinGen Ensembl |
|
|
CA10180908 rs745819213 |
675 | R>W | No |
ClinGen ExAC |
|
|
CA10180909 rs769682251 |
676 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs146606161 CA10180911 |
677 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs534760358 CA323177330 |
682 | P>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs774020685 CA10180914 |
683 | R>Q | No |
ClinGen ExAC |
|
|
CA10180913 rs763703415 |
683 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760979134 CA10180915 |
686 | C>F | No |
ClinGen ExAC |
|
|
rs1486647648 CA411194741 |
687 | T>A | No |
ClinGen TOPMed |
|
|
CA10180917 rs754232112 |
688 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755504502 CA10180922 |
690 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755504502 CA10180921 |
690 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1751801 rs148745147 CA10180919 |
690 | P>S | large_intestine urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA10180924 rs758593986 |
691 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs752800792 CA10180923 |
691 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180926 rs747261811 |
693 | P>R | No |
ClinGen ExAC |
|
|
CA411194788 rs1231088201 |
693 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA411194786 rs1231088201 |
693 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1012674404 CA323177424 |
694 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
CA323177425 rs377101153 |
695 | T>I | No |
ClinGen ESP |
|
|
rs1289505509 CA411194830 |
697 | P>S | No |
ClinGen TOPMed |
|
|
CA411194845 rs1359149443 |
698 | S>F | No |
ClinGen TOPMed |
|
|
rs202178544 CA10180927 |
698 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411194855 rs745704312 |
699 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10180929 rs745704312 |
699 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180928 rs185099385 COSM1033272 |
699 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs369636306 CA323177437 |
700 | Q>* | No |
ClinGen ESP TOPMed |
|
|
CA10180930 rs769745656 |
701 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs748755160 CA10180932 |
702 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs112296329 CA10180933 |
703 | S>G | No |
ClinGen ExAC |
|
|
rs773935152 CA10180934 |
703 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1474231547 CA411194900 |
703 | S>R | No |
ClinGen gnomAD |
|
|
CA10180935 rs761458590 |
704 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411194922 rs1198319152 |
705 | P>S | No |
ClinGen gnomAD |
|
|
rs1157236058 CA411194935 |
706 | S>C | No |
ClinGen gnomAD |
|
|
CA411194952 rs1384651119 |
707 | K>T | No |
ClinGen gnomAD |
|
|
CA10180941 rs763081189 |
712 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs940342495 CA323177468 |
712 | G>S | No |
ClinGen Ensembl |
|
|
rs1296609256 CA411195027 |
713 | V>M | No |
ClinGen TOPMed |
|
|
rs764286660 CA10180942 |
714 | T>A | No |
ClinGen ExAC |
|
|
CA10180943 rs751751778 |
714 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751751778 CA411195037 |
714 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411195050 rs1240703844 |
715 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1305041135 CA411195064 |
716 | L>W | No |
ClinGen TOPMed |
|
|
rs757483187 CA10180944 |
719 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1003699509 CA411195123 |
721 | Q>* | No |
ClinGen TOPMed |
|
|
CA323177533 rs1003699509 |
721 | Q>K | No |
ClinGen TOPMed |
|
|
rs755890833 CA10180947 |
722 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1484644613 CA411195186 |
725 | K>N | No |
ClinGen gnomAD |
|
|
CA411195195 rs779990886 |
726 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA10180948 rs779990886 |
726 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA10180949 rs749236506 |
730 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1179863166 CA411195248 |
731 | R>K | No |
ClinGen gnomAD |
|
|
CA323177574 rs201485184 |
733 | R>I | No |
ClinGen Ensembl |
|
|
rs747716003 CA10180952 |
734 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA323177605 rs147031431 |
737 | G>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
COSM1033274 CA10180957 rs142269248 |
738 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs150705487 CA10180956 |
738 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1250583259 CA411195339 |
739 | G>E | No |
ClinGen TOPMed |
|
|
CA411195367 rs1234832522 |
741 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10180958 rs763563241 |
742 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1569196554 CA411195422 |
744 | A>E | No |
ClinGen Ensembl |
|
|
rs1233427619 CA411195442 |
745 | H>L | No |
ClinGen gnomAD |
|
|
CA411195480 rs1316315321 |
747 | P>H | No |
ClinGen TOPMed |
|
|
rs982607076 CA323177626 |
748 | Q>* | No |
ClinGen TOPMed |
|
|
CA323177635 rs564880776 |
748 | Q>L | No |
ClinGen Ensembl |
|
|
rs751663729 CA10180960 |
749 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs999973903 CA323177646 |
749 | E>V | No |
ClinGen Ensembl |
|
|
CA323177674 rs761836101 |
750 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10180961 rs761836101 |
750 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411195523 rs1275308129 |
750 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA411195560 rs1195947272 |
752 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 753 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767736630 CA10180962 |
753 | M>Q | No |
ClinGen ExAC gnomAD |
No associated diseases with Q569K6
6 regional properties for Q569K6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | C2 domain | 637 - 771 | IPR000008 |
| domain | Coiled-coil and C2 domain-containing protein 1, DM14 domain | 138 - 195 | IPR006608-1 |
| domain | Coiled-coil and C2 domain-containing protein 1, DM14 domain | 257 - 315 | IPR006608-2 |
| domain | Coiled-coil and C2 domain-containing protein 1, DM14 domain | 349 - 407 | IPR006608-3 |
| domain | Coiled-coil and C2 domain-containing protein 1, DM14 domain | 494 - 552 | IPR006608-4 |
| domain | Freud, C2 domain | 652 - 809 | IPR037772 |
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 |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAHLLGSQAC | MESLRTDLTD | LQGAIVDVFS | RAGPVRFPSW | KFPDRMACDL | DMVALLEHYD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HVPGDPEFTQ | LSHAVLLELV | IDRLLLLLQS | CMSYLENLGS | EQMMPPAQAA | GPCMSVGLTV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RRFWDSLLRL | GTLHQQPLPQ | KGANQRETPT | SKPTTKGEPA | RSPEYLTTKL | IKPSSPVLGL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PQTCQEPESI | PVRASLQFPA | TTFKNTRSVH | SQTIETALVP | CDACASVQGS | LQKVGKVVIS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LCQSQNLPSS | LGQFQQLVQD | SMGLRPLPAA | TVGRWAAEQR | KDLTRLSKHV | EALRAQLEEA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EGQKDGLRKQ | AGKLEQALKQ | EQGARRRQAE | EDEQCLSEWE | HDKQQLLTET | SDLKTKMATL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ERELKQQRES | TQAVEAKAQQ | LQEEGERRAA | AERQVQQLEE | QVQQLEAQVQ | LLVGRLEGAG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QQVCWASTEL | DKEKARVDSM | VRHQESLQAK | QRALLKQLDS | LDQEREELRG | SLDEAEAQRA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RVEEQLQSER | EQGQCQLRAQ | QELLQSLQRE | KQGLEQATTD | LRLTILELER | ELEELKERER |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LLVAFPDLHR | PTETQIHGGR | SSSVESQITC | PTDSGNVTDH | MERQVQSNDI | RIRVLQEENG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RLQSMLSKIR | EVAQQGGLKL | IPQDRLWSPS | SKGTQGATPP | VQAKSTSPGP | LGRQHLPSSR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| TGRTLLGQPC | TSPPRQPCTS | PPRQPCTSPP | RQPCTSPSRQ | PCSQPSKSLL | EGVTHLDTCT |
| 730 | 740 | 750 | |||
| QNPIKVLVRL | RKRLSPGRGQ | ASSAHQPQER | PM |