Q9UNX4
PR
Gene name |
WDR3 |
Protein name |
WD repeat-containing protein 3 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10885 |
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
4 structures for Q9UNX4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7MQ8 | EM | 360 A | LQ | 1-943 | PDB |
| 7MQ9 | EM | 387 A | LQ | 1-943 | PDB |
| 7MQA | EM | 270 A | LQ | 1-943 | PDB |
| AF-Q9UNX4-F1 | Predicted | AlphaFoldDB |
769 variants for Q9UNX4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA341405628 rs1392082949 |
2 | G>R | No |
ClinGen gnomAD |
|
|
rs767677202 CA1031806 |
5 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1031807 rs773144364 |
7 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1031809 rs201075588 |
8 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376572237 CA1031810 |
9 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1557816150 CA341405744 |
9 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs759071139 CA1031811 |
10 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs754835598 CA1031812 |
10 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370603343 CA30131500 |
11 | V>A | No |
ClinGen ESP |
|
|
CA341405797 rs1266269136 |
13 | S>C | No |
ClinGen gnomAD |
|
|
rs201871148 CA1031813 |
13 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA1031814 CA341405813 rs752433994 |
13 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA341405827 rs1255724526 |
14 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1190018527 CA341405829 |
15 | V>L | No |
ClinGen gnomAD |
|
|
rs751061868 CA1031817 |
18 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA341405936 rs1385723451 |
19 | I>T | No |
ClinGen gnomAD |
|
|
CA341405923 rs1157812628 |
19 | I>V | No |
ClinGen gnomAD |
|
|
CA1031818 rs756719484 |
20 | G>S | No |
ClinGen ExAC |
|
|
CA30131537 rs374993298 |
21 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1031821 rs749779745 |
21 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1031820 rs374993298 |
21 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1031822 rs769077631 |
22 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA1031823 rs779219383 |
23 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs748419725 CA1031824 |
24 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs377392703 CA1031826 |
25 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773448110 CA1031828 |
26 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs760679558 CA1031829 |
27 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs577416193 CA1031830 |
28 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs577416193 CA341406222 |
28 | F>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341406276 rs1309397144 |
30 | T>K | No |
ClinGen TOPMed |
|
| TCGA novel | 32 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341406338 rs1308056118 |
32 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA341406354 rs1214247967 |
33 | G>D | No |
ClinGen TOPMed |
|
|
CA341406395 rs371355148 |
34 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371355148 CA1031832 |
34 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1031834 rs752558378 |
37 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA1031835 rs200209712 COSM894540 |
37 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA341406537 rs200209712 |
37 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341406544 rs553284648 |
38 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1031836 rs553284648 |
38 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341406608 rs1159165896 |
39 | V>A | No |
ClinGen gnomAD |
|
|
rs751165225 CA1031837 |
40 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30131686 rs904180684 |
43 | A>V | No |
ClinGen Ensembl |
|
|
rs780677382 CA1031839 |
47 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs944154061 CA30131716 |
50 | W>R | No |
ClinGen TOPMed |
|
|
rs1343701448 CA341406968 |
53 | R>K | No |
ClinGen gnomAD |
|
|
CA30131721 rs1000157818 |
56 | E>G | No |
ClinGen Ensembl |
|
|
CA1031841 rs755456659 |
57 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557816525 CA341407934 |
58 | I>V | No |
ClinGen Ensembl |
|
|
CA1031868 rs781519971 |
60 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235254790 CA341408010 |
62 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA341408042 rs1464165551 |
63 | G>V | No |
ClinGen gnomAD |
|
|
rs749243439 CA1031872 |
67 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1181045754 CA341408115 |
68 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA30132450 rs746258069 |
69 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1031873 rs768377527 |
69 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs746258069 CA1031874 |
69 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs886951746 CA30132462 |
73 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 74 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368025783 CA341408228 |
75 | P>L | No |
ClinGen gnomAD |
|
|
CA30132466 rs368025783 |
75 | P>R | No |
ClinGen gnomAD |
|
|
rs1004422638 CA30132476 |
76 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 77 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772788857 CA1031877 |
79 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA1031880 rs765863042 |
80 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA341408309 rs1406622636 |
81 | A>V | No |
ClinGen TOPMed |
|
|
CA1031881 rs753214958 |
82 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs753214958 CA341408310 |
82 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs368096895 CA1031883 |
84 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs746518431 CA30132523 |
86 | D>V | No |
ClinGen Ensembl |
|
|
CA1031884 rs541382220 |
88 | S>L | No |
ClinGen 1000Genomes ExAC |
|
|
rs781577126 CA341408407 |
89 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30132549 rs777740504 |
90 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1243688231 CA341408412 |
90 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs746073566 CA1031888 |
91 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1031889 rs746073566 |
91 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341408441 rs1464216209 |
92 | F>Y | No |
ClinGen TOPMed |
|
|
rs199738104 CA1031890 |
93 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199738104 CA1031891 |
93 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA30132573 rs963819856 |
95 | L>P | No |
ClinGen Ensembl |
|
|
rs1188640158 CA341408531 |
97 | G>E | No |
ClinGen gnomAD |
|
|
rs989527119 CA30132577 |
97 | G>R | No |
ClinGen TOPMed |
|
|
rs1289237612 CA341408539 |
98 | E>* | No |
ClinGen TOPMed |
|
|
rs747943343 CA1031894 |
100 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs771800625 CA1031895 |
102 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1031896 rs772910692 |
103 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs60920480 CA1031897 |
104 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1341753892 CA341408615 |
104 | N>Y | No |
ClinGen TOPMed |
|
|
rs1034383930 CA30132608 |
106 | H>R | No |
ClinGen Ensembl |
|
|
rs372082114 CA1031898 |
106 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1415768564 CA341408683 |
109 | A>D | No |
ClinGen gnomAD |
|
|
rs776224353 CA341408712 |
111 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1031899 rs776224353 |
111 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1349142572 CA341408717 |
112 | T>A | No |
ClinGen gnomAD |
|
|
CA1031900 rs758927813 |
114 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374841023 CA1031902 |
115 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764663414 CA341408757 |
115 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs764663414 CA1031901 |
115 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1347676380 CA341408777 |
116 | D>E | No |
ClinGen TOPMed |
|
|
CA886073361 rs1208386136 |
116 | D>E | No |
ClinGen Ensembl |
|
|
CA1031904 rs767989957 |
119 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1031906 rs756383447 |
120 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA341408926 rs1395426196 |
127 | K>Q | No |
ClinGen TOPMed |
|
|
rs1476584124 CA341409503 |
128 | D>G | No |
ClinGen gnomAD |
|
|
rs199700726 CA1031927 |
129 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1031929 rs752674360 |
130 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1031928 rs752674360 |
130 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571009985 CA341409513 |
130 | D>Y | No |
ClinGen Ensembl |
|
|
CA1031930 rs777644143 |
131 | I>N | No |
ClinGen ExAC |
|
|
rs1323249668 CA341409519 |
131 | I>V | No |
ClinGen gnomAD |
|
|
rs1049552129 CA30134193 |
132 | I>T | No |
ClinGen TOPMed |
|
|
rs375472059 CA1031931 |
133 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341409530 rs375472059 |
133 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341409569 rs780952651 |
138 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1031933 rs780952651 |
138 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341409576 rs1402552323 |
139 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1426147391 CA341409590 |
141 | G>S | No |
ClinGen TOPMed |
|
|
CA341409598 rs1399272141 |
142 | L>P | No |
ClinGen gnomAD |
|
|
CA1031935 rs769384486 |
143 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs762504967 CA1031937 |
144 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1031938 rs772738618 |
144 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293392106 CA341409612 |
145 | L>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 146 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341409628 rs1423340697 |
147 | G>E | No |
ClinGen Ensembl |
|
|
rs761116228 CA1031940 |
148 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA341409633 rs1323259145 |
148 | H>R | No |
ClinGen gnomAD |
|
|
CA341409648 rs1184683760 |
150 | D>G | No |
ClinGen TOPMed |
|
|
CA1031942 rs528506870 |
151 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759651416 CA1031943 |
154 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1024626608 CA30134292 |
155 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA341409686 rs1201019421 |
156 | L>W | No |
ClinGen TOPMed |
|
|
rs1162179516 CA341409696 |
157 | F>L | No |
ClinGen gnomAD |
|
|
rs1489922709 CA341409697 |
158 | L>I | No |
ClinGen TOPMed |
|
|
rs1291262045 CA341409700 |
158 | L>P | No |
ClinGen TOPMed |
|
|
CA1031945 rs370011105 COSM894544 |
159 | R>* | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA341409702 rs370011105 |
159 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM268284 CA1031947 rs139865932 |
159 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1031948 rs751481934 |
161 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs144826253 CA1031949 |
162 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1360731648 CA341409789 |
166 | T>I | No |
ClinGen TOPMed |
|
|
CA1031953 rs779814437 |
167 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1281734232 CA341410336 |
167 | S>R | No |
ClinGen gnomAD |
|
|
CA30135382 rs988305236 |
169 | K>E | No |
ClinGen Ensembl |
|
|
CA341410399 rs1457848097 |
169 | K>N | No |
ClinGen TOPMed |
|
|
CA30135390 rs914965399 |
170 | D>G | No |
ClinGen Ensembl |
|
|
CA1031973 rs748936188 |
172 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360561404 CA341410441 |
172 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA341410463 rs1421079283 |
173 | V>M | No |
ClinGen TOPMed |
|
|
rs969204106 CA30135419 |
175 | W>* | No |
ClinGen TOPMed |
|
|
CA341410612 rs754604700 |
178 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1031974 rs754604700 |
178 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778537691 CA1031975 |
179 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1182159402 CA341410721 |
182 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1182159402 CA341410714 |
182 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA1031977 rs771367824 |
183 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs777126562 CA1031978 |
184 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA1031979 rs746227295 |
185 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs770128496 CA1031980 |
186 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753438938 CA30135457 |
187 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA341410869 rs1381326597 |
187 | M>T | No |
ClinGen gnomAD |
|
|
rs753438938 CA1031981 |
187 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA1031982 rs763129426 |
188 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA341410918 rs1375695383 |
189 | G>V | No |
ClinGen gnomAD |
|
|
CA30135461 rs956539279 |
190 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA30135462 rs200985071 |
191 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341410960 rs774316410 |
191 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA1031984 COSM894545 rs774316410 |
191 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs200985071 CA1031983 |
191 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs140258611 | 194 | V>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774565996 CA1032003 |
195 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA1032004 rs761813613 |
196 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA1032005 rs548055924 |
197 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341411233 rs1253236477 |
198 | V>F | No |
ClinGen gnomAD |
|
|
rs760660940 CA1032007 |
200 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA341411301 rs1160311134 |
202 | E>K | No |
ClinGen TOPMed |
|
|
CA341411327 rs1421600311 |
203 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 204 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1053085616 CA30136374 |
205 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1032009 rs148060113 |
205 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341411439 rs1415698191 |
208 | T>A | No |
ClinGen gnomAD |
|
|
rs1415698191 CA341411443 |
208 | T>S | No |
ClinGen gnomAD |
|
|
rs1438604707 CA341411461 |
209 | G>R | No |
ClinGen TOPMed |
|
|
CA341411477 rs1463069756 |
209 | G>V | No |
ClinGen gnomAD |
|
|
CA1032010 rs759368535 |
210 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341411490 rs759368535 |
210 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1032011 rs34973445 |
210 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341411522 rs1414641225 |
212 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 212 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201234081 CA1032014 |
212 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30136393 rs372917303 |
214 | E>K | No |
ClinGen Ensembl |
|
|
rs371392103 CA1032015 |
216 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1032016 rs756634185 |
217 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341411602 rs1359979726 |
218 | W>C | No |
ClinGen TOPMed |
|
|
rs1314976900 CA341411623 |
220 | I>V | No |
ClinGen TOPMed |
|
|
rs749656921 CA1032018 |
221 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs199566416 CA1032019 |
225 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285902417 CA341412292 |
226 | I>M | No |
ClinGen gnomAD |
|
|
CA341412295 rs1239085243 |
227 | E>K | No |
ClinGen TOPMed |
|
|
CA1032032 rs113562447 |
229 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1032031 rs762642377 |
229 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 231 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1188750718 CA341412391 |
233 | D>E | No |
ClinGen gnomAD |
|
|
CA341412378 rs1251139096 |
233 | D>N | No |
ClinGen TOPMed |
|
|
rs3738420 VAR_033809 CA1032034 |
234 | P>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1032035 rs766885188 |
238 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA30137196 rs1034997505 |
239 | G>R | No |
ClinGen TOPMed |
|
|
rs537675666 CA1032036 |
241 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341412499 rs1434543188 |
242 | P>R | No |
ClinGen gnomAD |
|
|
rs1377831824 CA341412506 COSM202184 |
243 | G>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA341412538 rs1334263302 |
245 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA1032037 rs558953422 |
245 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1032038 rs558953422 |
245 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748371140 CA1032039 |
246 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA341412561 rs1439392122 |
247 | T>I | No |
ClinGen gnomAD |
|
|
CA1032040 rs202012981 |
248 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341412571 rs1233328102 |
248 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA341412599 rs1393807105 |
250 | A>V | No |
ClinGen TOPMed |
|
|
CA1032041 rs778104541 |
254 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs142439174 CA341412691 |
257 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM462714 rs142439174 CA1032043 |
257 | T>M | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1233692300 CA341412702 |
258 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA30137238 rs760292730 |
259 | E>G | No |
ClinGen Ensembl |
|
|
rs369726031 CA30137234 |
259 | E>K | No |
ClinGen ESP TOPMed |
|
|
rs1381007930 CA341412727 |
260 | A>T | No |
ClinGen TOPMed |
|
|
rs745784525 CA1032045 |
261 | P>R | No |
ClinGen ExAC |
|
|
CA1032047 rs775375993 |
262 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA1032048 rs762614444 |
262 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1032046 rs769524021 |
262 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1394937268 CA341412765 |
263 | D>G | No |
ClinGen gnomAD |
|
|
CA1032050 rs773935111 |
263 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1032067 rs781395374 |
264 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1032068 rs200734934 |
264 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1032069 rs779787187 |
265 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA341412856 rs1206449523 |
268 | C>R | No |
ClinGen TOPMed |
|
|
CA341412908 rs1324623637 |
272 | G>D | No |
ClinGen gnomAD |
|
|
rs1317325495 CA341412903 |
272 | G>S | No |
ClinGen gnomAD |
|
|
CA1032070 rs749121331 |
274 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144505423 CA1032073 |
276 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150881258 COSM278120 CA1032071 |
276 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA30137390 rs906975319 |
277 | E>G | No |
ClinGen TOPMed |
|
|
rs1357264743 CA341413036 |
283 | V>I | No |
ClinGen gnomAD |
|
|
CA341413094 rs1341126341 |
287 | V>A | No |
ClinGen TOPMed |
|
|
rs1039949845 CA30137434 |
288 | D>G | No |
ClinGen TOPMed |
|
|
rs1449083818 CA341413099 |
288 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1032079 rs376965695 |
289 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs563424765 CA1032081 |
291 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs894679430 CA30137447 |
293 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1390859341 CA341413275 |
298 | G>R | No |
ClinGen gnomAD |
|
|
rs763528561 CA1032099 |
300 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1175136086 CA341413356 |
301 | S>Y | No |
ClinGen TOPMed |
|
|
CA341413384 rs1469251464 |
302 | V>G | No |
ClinGen TOPMed |
|
|
rs1241368102 CA341413371 |
302 | V>L | No |
ClinGen gnomAD |
|
|
CA1032101 rs752000670 |
303 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341413393 rs752000670 |
303 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213717880 CA341413411 COSM1667870 |
304 | E>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA341413606 rs1483315882 |
311 | K>T | No |
ClinGen gnomAD |
|
|
CA341413643 rs1194718023 |
312 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1032104 rs750596339 |
313 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1458765268 CA341413701 |
314 | I>M | No |
ClinGen gnomAD |
|
|
CA341413776 rs1484681362 |
317 | K>T | No |
ClinGen TOPMed |
|
|
CA1032106 CA341413851 rs766339416 |
319 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1217528924 CA341413923 |
321 | K>N | No |
ClinGen TOPMed |
|
|
rs1178188856 CA341413939 |
322 | M>L | No |
ClinGen gnomAD |
|
|
CA341413992 rs1378110808 |
323 | K>M | No |
ClinGen gnomAD |
|
|
rs748808132 CA341414037 |
325 | A>P | No |
ClinGen gnomAD |
|
|
CA30137823 rs748808132 |
325 | A>S | No |
ClinGen gnomAD |
|
|
CA341414052 rs1296484034 |
326 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1320705870 CA341414096 |
328 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1332166002 CA341415188 |
333 | S>F | No |
ClinGen gnomAD |
|
|
rs760787012 CA1032123 |
334 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1343691571 CA341415229 |
336 | G>* | No |
ClinGen TOPMed |
|
|
rs1036473002 CA30138151 |
336 | G>E | No |
ClinGen Ensembl |
|
|
rs766575730 CA1032124 |
337 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1485415193 CA341415297 |
341 | P>R | No |
ClinGen gnomAD |
|
|
rs1260731593 CA341415308 |
342 | E>K | No |
ClinGen TOPMed |
|
|
CA341415334 rs1265210770 |
344 | N>D | No |
ClinGen gnomAD |
|
|
rs751534178 CA30138172 |
347 | M>I | No |
ClinGen Ensembl |
|
|
rs753952345 CA1032125 |
348 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs754986735 CA1032126 |
353 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs765176394 CA341415433 |
355 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765176394 CA1032127 |
355 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30138190 rs920694763 |
355 | R>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 357 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752604999 CA1032128 |
358 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1055806540 CA30138203 |
359 | I>M | No |
ClinGen Ensembl |
|
|
rs376981533 CA1032129 |
360 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1032130 rs530007384 |
361 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA30138204 rs530007384 |
361 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1032131 rs149059900 |
366 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1032145 rs142144951 |
367 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 368 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341415624 rs1449545851 |
372 | H>D | No |
ClinGen gnomAD |
|
|
CA1032150 rs192858573 |
376 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1032149 rs201583974 |
376 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757030632 CA1032151 |
378 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341415723 rs1354128055 |
379 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1032153 rs375043232 |
381 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA30138869 rs888363192 |
382 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1557819875 CA341415790 |
385 | Q>R | No |
ClinGen Ensembl |
|
|
rs1557819881 CA341415819 |
387 | N>S | No |
ClinGen Ensembl |
|
|
rs1479742039 CA341415837 |
389 | V>M | No |
ClinGen gnomAD |
|
|
rs1288899584 CA341415902 |
392 | Y>S | No |
ClinGen gnomAD |
|
|
rs1454105158 CA341415946 |
395 | N>D | No |
ClinGen gnomAD |
|
|
rs1489002786 CA341415962 |
395 | N>T | No |
ClinGen gnomAD |
|
|
CA1032155 rs779698066 |
396 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1194259632 CA341415988 |
397 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA30138886 rs941285014 |
399 | P>A | No |
ClinGen TOPMed |
|
|
CA341416031 rs1241497685 |
399 | P>H | No |
ClinGen gnomAD |
|
|
rs141364091 CA1032156 |
400 | T>A | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA341416040 rs141364091 |
400 | T>P | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA1032158 rs748749738 |
401 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA341416088 rs1415693157 |
402 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 403 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1353588314 CA341416119 |
403 | P>L | No |
ClinGen gnomAD |
|
|
rs1444051958 CA341416125 |
404 | V>I | No |
ClinGen gnomAD |
|
|
rs555532069 CA1032159 |
407 | S>R | No |
ClinGen 1000Genomes ExAC |
|
|
rs778301868 CA1032160 |
408 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341416217 rs1358454771 |
408 | R>S | No |
ClinGen TOPMed |
|
|
CA1032162 rs771302709 |
411 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282349106 CA341416262 |
411 | I>V | No |
ClinGen TOPMed |
|
|
rs759746039 CA1032164 |
413 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 413 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1032165 rs773567560 |
415 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30138921 COSM894548 rs138214784 |
415 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA gnomAD |
|
rs775555443 CA1032166 |
417 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1032167 rs763051776 |
419 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs970529304 CA30138931 |
419 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA1032168 rs763962551 |
420 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA341416427 rs1478618423 |
423 | F>L | No |
ClinGen gnomAD |
|
|
rs763327694 CA1032169 |
423 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30138940 rs968253677 |
425 | S>L | No |
ClinGen TOPMed |
|
|
CA341416452 rs1418224358 |
425 | S>T | No |
ClinGen gnomAD |
|
|
CA30138943 rs372504845 |
427 | N>D | No |
ClinGen ESP gnomAD |
|
|
rs761554188 CA1032170 |
428 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341416479 rs1247016160 |
428 | I>V | No |
ClinGen TOPMed |
|
|
CA341416488 rs1453114922 |
429 | A>V | No |
ClinGen TOPMed |
|
|
CA341416490 rs1172449194 |
430 | V>I | No |
ClinGen gnomAD |
|
|
rs200959855 CA30138955 |
431 | L>I | No |
ClinGen TOPMed |
|
|
CA341416496 rs200959855 COSM1333156 |
431 | L>V | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA1032171 rs767417190 |
433 | A>G | No |
ClinGen ExAC |
|
|
rs1209203102 CA341416507 |
433 | A>T | No |
ClinGen TOPMed |
|
|
CA341416516 rs1321295791 |
434 | A>V | No |
ClinGen gnomAD |
|
|
rs1339964282 CA341416518 |
435 | A>T | No |
ClinGen TOPMed |
|
|
rs766549512 CA30138959 |
436 | D>H | No |
ClinGen Ensembl |
|
|
CA1032172 rs750158311 |
437 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341416531 rs750158311 |
437 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1032173 rs755845020 |
438 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA341416560 rs1269491131 |
441 | W>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 443 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1032198 rs373163432 |
445 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766149182 CA1032199 |
447 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1204863546 CA341416945 |
448 | C>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA341416963 rs1284513071 |
449 | I>F | No |
ClinGen gnomAD |
|
|
CA1032200 rs748137264 |
450 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1032201 rs754483435 |
450 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1346893777 CA341416994 |
452 | M>L | No |
ClinGen TOPMed |
|
|
CA1032202 rs149375156 |
452 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1346893777 CA341416997 |
452 | M>V | No |
ClinGen TOPMed |
|
|
rs1366216365 CA341417018 |
453 | T>N | No |
ClinGen TOPMed |
|
|
rs911896587 CA30140425 |
454 | C>R | No |
ClinGen TOPMed |
|
|
CA1032204 rs757770150 |
455 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1032205 rs370527041 |
460 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 461 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341417139 rs1187456468 |
462 | F>S | No |
ClinGen TOPMed |
|
|
rs1382457037 CA341417166 |
464 | P>R | No |
ClinGen gnomAD |
|
|
rs374665932 CA1032206 |
464 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA341417197 rs1298705216 |
467 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA341417223 rs903580734 |
468 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs749522680 CA1032209 |
471 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs768677756 CA1032210 |
473 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA30140454 rs1039119402 |
474 | K>E | No |
ClinGen TOPMed |
|
|
CA1032231 rs778961844 |
477 | K>E | No |
ClinGen ExAC |
|
|
rs1230477174 CA341417524 |
478 | L>R | No |
ClinGen gnomAD |
|
|
rs748259337 CA1032233 |
479 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs772254063 CA1032234 |
481 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA1032237 rs770903014 |
482 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30144061 rs746936807 |
482 | D>G | No |
ClinGen ExAC |
|
|
rs142989423 CA1032235 |
482 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1032236 rs746936807 |
482 | D>V | No |
ClinGen ExAC |
|
|
rs114612177 CA1032238 |
483 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341418178 rs1266628635 |
492 | I>L | No |
ClinGen gnomAD |
|
|
rs975220097 CA30144075 |
492 | I>M | No |
ClinGen TOPMed |
|
|
CA1032240 rs769513284 |
492 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1178116128 CA341418221 |
494 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 494 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341418255 rs1176513337 |
496 | D>G | No |
ClinGen TOPMed |
|
|
CA341418296 rs774985783 |
498 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs774985783 CA1032241 |
498 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs922023714 CA30144085 |
498 | A>T | No |
ClinGen TOPMed |
|
|
rs762493609 CA1032242 |
499 | L>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 501 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1325599890 CA341418380 |
502 | M>T | No |
ClinGen gnomAD |
|
|
rs761184887 CA1032245 |
502 | M>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1333157 CA1032246 rs766730419 |
503 | S>P | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs754259940 CA1032247 |
504 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs890445727 CA30144101 |
505 | S>C | No |
ClinGen Ensembl |
|
|
CA30144121 rs1004677906 |
507 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1004677906 CA341418460 |
507 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 508 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs965960609 CA30144138 |
508 | Q>R | No |
ClinGen TOPMed |
|
|
CA1032270 rs369953709 |
509 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1032272 rs202047497 |
509 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369953709 CA1032271 |
509 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411877939 CA341418659 |
510 | G>A | No |
ClinGen gnomAD |
|
|
CA341418666 rs1425934162 |
511 | F>V | No |
ClinGen gnomAD |
|
|
rs542279648 CA30144716 |
513 | T>A | No |
ClinGen 1000Genomes |
|
|
rs779838914 CA1032275 |
513 | T>I | No |
ClinGen ExAC |
|
|
rs375870450 CA1032276 |
514 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341418709 rs375870450 |
514 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1221623636 CA341418712 |
515 | G>S | No |
ClinGen gnomAD |
|
|
rs1361980909 CA341418724 |
516 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs527699867 CA1032278 |
519 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1032279 rs747742358 |
523 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA341418837 rs1359569747 |
524 | D>N | No |
ClinGen TOPMed |
|
|
rs1288272616 CA341418871 |
526 | E>* | No |
ClinGen TOPMed |
|
|
CA1032281 rs147807163 |
528 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1571019599 CA341418917 |
529 | K>R | No |
ClinGen Ensembl |
|
|
rs765715588 CA1032283 |
532 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1032284 rs775998296 |
534 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1235980997 CA341419004 |
535 | Q>* | No |
ClinGen gnomAD |
|
|
CA1032285 rs763366577 |
535 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1032286 rs763366577 |
535 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776121352 CA1032304 |
539 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776121352 CA1032303 |
539 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA341419147 rs1557822387 |
542 | Q>E | No |
ClinGen Ensembl |
|
|
rs774695183 CA1032306 |
543 | T>A | No |
ClinGen ExAC |
|
|
CA341419164 rs1189960544 |
543 | T>I | No |
ClinGen gnomAD |
|
|
rs1189960544 CA341419162 |
543 | T>S | No |
ClinGen gnomAD |
|
|
CA1032308 rs547012838 |
544 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs145257054 CA1032309 |
544 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs149115056 CA1032310 |
545 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA30144843 rs534630736 |
546 | L>F | No |
ClinGen Ensembl |
|
|
CA30144848 rs954088966 |
547 | Q>L | No |
ClinGen TOPMed |
|
| TCGA novel | 548 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1032311 rs766351537 |
548 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341419207 rs1250360920 |
549 | D>G | No |
ClinGen TOPMed |
|
|
CA1032314 rs151247763 |
549 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1032313 rs151247763 |
549 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1032315 rs150424473 |
550 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341419222 rs1224137710 |
551 | D>G | No |
ClinGen gnomAD |
|
|
CA341419221 rs1224137710 |
551 | D>V | No |
ClinGen gnomAD |
|
|
rs757989671 CA1032316 |
553 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs370211968 CA30144859 |
554 | C>W | No |
ClinGen gnomAD |
|
|
CA30144856 rs947204355 |
554 | C>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 555 | V>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1032319 rs746519634 |
558 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs887863842 CA30144871 |
560 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA341419294 rs1422503960 |
562 | K>R | No |
ClinGen gnomAD |
|
|
CA1032322 rs369211256 |
563 | L>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1032321 rs780777873 |
563 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA341419303 rs1326783226 |
564 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM346532 rs1397034408 CA341419309 |
565 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs769228463 CA1032323 |
566 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA341419322 rs1351481129 |
567 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA30144886 rs79722617 |
568 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs371810406 CA1032326 |
569 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 574 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1032328 rs773460408 |
577 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30144893 rs760784329 |
578 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760784329 CA1032329 |
578 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA341419400 rs1571019926 |
579 | D>G | No |
ClinGen Ensembl |
|
|
CA341419698 rs1163862084 |
583 | F>V | No |
ClinGen gnomAD |
|
|
rs1445012816 CA341419732 |
588 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1158033735 CA341419736 |
589 | G>R | No |
ClinGen gnomAD |
|
|
CA1032357 rs762726702 |
590 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1011856391 CA30145197 |
590 | H>Y | No |
ClinGen TOPMed |
|
|
CA1032361 rs756975968 |
595 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA1032360 rs751346215 |
595 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1032362 rs780951887 |
596 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs955865630 CA341419798 |
598 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs955865630 CA30145216 |
598 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1336399837 CA341419796 |
598 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1299948291 CA341419801 |
599 | I>L | No |
ClinGen gnomAD |
|
|
rs142924383 CA1032363 |
599 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1032364 rs755664464 |
601 | H>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 603 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230363396 CA341419845 |
603 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1032378 rs774319821 COSM3788500 |
604 | A>T | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA341419850 rs1323748975 |
604 | A>V | No |
ClinGen gnomAD |
|
|
CA1032380 rs767329408 |
606 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30145596 rs1013569710 |
606 | I>V | No |
ClinGen TOPMed |
|
|
rs1571021458 CA341419862 |
607 | A>T | No |
ClinGen Ensembl |
|
|
rs750070486 CA1032381 |
607 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA341419877 rs1423565183 |
609 | G>A | No |
ClinGen TOPMed |
|
|
CA341419878 rs1423565183 |
609 | G>V | No |
ClinGen TOPMed |
|
|
rs573261991 CA1032383 |
611 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 614 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA30145610 rs978827090 |
614 | N>K | No |
ClinGen Ensembl |
|
|
rs758947621 CA1032385 |
615 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778209155 CA1032386 |
618 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs1477647207 CA341419953 |
621 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs144864161 CA1032387 |
621 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341419971 rs1321069120 |
623 | G>A | No |
ClinGen TOPMed |
|
|
CA1032388 rs757594116 |
623 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA1032389 rs781430732 |
624 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs746080767 CA341419995 |
626 | H>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 627 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769852390 CA1032391 |
628 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs749291159 CA1032393 |
631 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs775648059 CA1032392 |
631 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1275900810 CA341420031 |
632 | H>R | No |
ClinGen gnomAD |
|
|
CA1032394 rs768661103 |
633 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA1032395 rs774410011 |
633 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1032396 rs761742387 |
634 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1173596477 CA341420070 |
636 | V>L | No |
ClinGen TOPMed |
|
|
CA30145783 rs1003626565 |
637 | M>T | No |
ClinGen Ensembl |
|
|
rs750691203 CA1032409 |
639 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA1032410 rs368039898 |
640 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 642 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM527932 rs780090748 CA1032411 |
643 | P>S | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1032412 rs749434727 |
644 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA341420144 rs1446814230 |
645 | S>C | No |
ClinGen gnomAD |
|
|
rs1250728933 CA341420155 |
646 | H>Y | No |
ClinGen TOPMed |
|
|
CA30145804 rs766628341 |
647 | L>R | No |
ClinGen Ensembl |
|
|
rs1173373142 CA341420216 |
650 | T>I | No |
ClinGen Ensembl |
|
|
CA1032414 rs751940309 |
652 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs935538421 CA30145830 |
654 | D>G | No |
ClinGen TOPMed |
|
|
CA30145848 rs956875008 |
655 | H>D | No |
ClinGen gnomAD |
|
|
CA341420273 COSM1237975 rs956875008 |
655 | H>N | thyroid [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1032415 rs748083631 |
655 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA341420276 rs956875008 |
655 | H>Y | No |
ClinGen gnomAD |
|
|
CA341420295 rs1301894390 |
656 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1156253656 CA525243314 |
656 | K>T | No |
ClinGen gnomAD |
|
|
CA341420336 rs1380380814 |
659 | Q>* | No |
ClinGen gnomAD |
|
|
rs772075846 CA1032416 |
659 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1315649125 CA341420359 |
660 | W>C | No |
ClinGen gnomAD |
|
|
CA341420370 rs1376008575 |
661 | D>G | No |
ClinGen gnomAD |
|
|
rs773145931 CA1032417 |
662 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1032419 rs770636349 COSM3375608 |
664 | K>R | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs770636349 CA341420411 |
664 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1400585200 CA341420442 |
666 | E>G | No |
ClinGen TOPMed |
|
|
rs776120840 CA1032421 |
666 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759123393 CA1032422 |
667 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs371679891 CA1032423 |
668 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1032424 rs752148868 |
669 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341420475 rs1438440208 |
670 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1175368602 CA341421586 |
673 | G>D | No |
ClinGen gnomAD |
|
|
rs759127623 CA1032441 |
674 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs769373712 CA1032442 |
676 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA1032443 rs775015505 |
676 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA1032445 rs768061311 |
677 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA1032444 rs762405717 |
677 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA30145979 rs368893384 |
678 | I>L | No |
ClinGen ESP TOPMed |
|
|
CA341421663 rs1355000342 |
678 | I>M | No |
ClinGen gnomAD |
|
|
CA1032446 rs773562146 |
679 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299000183 CA341421717 |
683 | V>L | No |
ClinGen gnomAD |
|
|
rs371210122 CA1032447 |
685 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1372671970 CA341421736 |
686 | S>G | No |
ClinGen gnomAD |
|
|
CA341421741 rs766640817 CA1032448 |
686 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1224428076 CA341421746 |
687 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1224428076 CA341421745 |
687 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA341421759 rs1277794959 |
689 | Y>S | No |
ClinGen gnomAD |
|
|
rs1401681873 CA341421764 |
690 | V>I | No |
ClinGen Ensembl |
|
|
CA1032450 rs755253696 |
692 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341421777 rs755253696 |
692 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1032451 rs765515713 |
693 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341421782 rs1304045276 |
693 | S>P | No |
ClinGen gnomAD |
|
|
rs777802428 CA1032454 |
695 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757131205 CA1032456 |
698 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs780856089 CA1032457 |
701 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1571022432 CA341421848 |
703 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 703 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341421860 rs1212107626 |
704 | R>S | No |
ClinGen TOPMed |
|
|
rs745626017 CA1032458 |
705 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1032459 rs757243661 COSM1738567 |
706 | R>K | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA341421874 rs1419938677 |
707 | E>* | No |
ClinGen gnomAD |
|
|
CA1032460 rs775105415 |
707 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1032461 rs748836858 |
708 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 711 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1032463 rs773830110 |
717 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1032462 rs768048229 |
717 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779750559 CA1032478 |
718 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA341421961 rs755873578 |
718 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755873578 CA1032477 |
718 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748926997 CA1032479 |
719 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1460710208 CA341421985 |
721 | A>V | No |
ClinGen gnomAD |
|
|
rs926596248 CA30146130 |
722 | E>V | No |
ClinGen TOPMed |
|
|
rs1244914059 CA341421994 |
723 | Y>N | No |
ClinGen gnomAD |
|
|
CA341422002 rs768299201 |
724 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768299201 CA1032480 |
724 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1032482 rs747652927 |
725 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1032481 rs773735956 |
725 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1032483 rs771363699 |
730 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1401682237 CA341422071 |
733 | P>L | No |
ClinGen gnomAD |
|
|
CA341422068 rs1159379315 |
733 | P>S | No |
ClinGen gnomAD |
|
|
rs942069631 CA30146150 |
734 | A>V | No |
ClinGen TOPMed |
|
|
CA341422091 rs1399214879 |
735 | V>A | No |
ClinGen gnomAD |
|
|
rs746724438 CA30146324 |
735 | V>I | No |
ClinGen Ensembl |
|
|
CA1032495 rs779838822 |
736 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs574248378 CA1032496 |
738 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341422121 rs1344284207 |
740 | Q>R | No |
ClinGen gnomAD |
|
|
CA341422131 rs1221375335 |
742 | D>H | No |
ClinGen gnomAD |
|
|
CA341422163 rs1170891821 COSM1579409 |
746 | T>A | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1431184705 CA341422168 |
746 | T>I | No |
ClinGen TOPMed |
|
|
CA1032497 rs754616437 |
747 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1324014656 CA341422186 |
749 | K>R | No |
ClinGen gnomAD |
|
|
CA1032498 rs778578083 |
751 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30146334 rs1043373266 |
751 | I>S | No |
ClinGen gnomAD |
|
|
CA341422199 rs1043373266 |
751 | I>T | No |
ClinGen gnomAD |
|
|
rs778578083 CA1032499 |
751 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs943882364 CA30146338 |
753 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs534211169 CA1032520 |
757 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746450523 CA1032521 |
758 | E>G | No |
ClinGen ExAC |
|
|
CA341422305 rs1342438648 |
759 | R>G | No |
ClinGen TOPMed |
|
|
rs1264374677 CA341422322 |
760 | I>V | No |
ClinGen gnomAD |
|
|
rs780687943 CA1032523 |
761 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770449109 CA1032522 |
761 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA341422362 rs749658177 |
762 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs749658177 CA1032524 |
762 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA1032526 rs756410492 |
765 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30146610 rs1016921247 |
767 | Y>S | No |
ClinGen TOPMed |
|
|
CA341422459 rs1452692018 |
768 | R>* | No |
ClinGen gnomAD |
|
|
rs772217516 CA1032528 COSM1333159 |
768 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA341422507 rs1435463254 |
771 | T>I | No |
ClinGen gnomAD |
|
|
rs1363832857 CA341422501 |
771 | T>P | No |
ClinGen gnomAD |
|
|
CA30146614 rs867247810 |
772 | A>T | No |
ClinGen TOPMed |
|
|
CA341422523 rs1380430772 |
772 | A>V | No |
ClinGen gnomAD |
|
|
CA1032530 rs760694533 |
774 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA341422546 rs1363429239 |
774 | M>V | No |
ClinGen TOPMed |
|
|
CA1032531 rs200953728 |
776 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1294796 rs962668739 CA30146619 |
776 | E>K | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1002776945 CA30146621 |
777 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs776596387 CA1032532 |
778 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1033948953 CA30146633 |
781 | C>G | No |
ClinGen Ensembl |
|
|
CA1032533 rs759316360 |
781 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1203391526 CA341422653 |
783 | A>T | No |
ClinGen gnomAD |
|
|
rs1241855640 CA341422669 |
785 | G>E | No |
ClinGen gnomAD |
|
|
rs764033918 CA30146646 |
786 | K>E | No |
ClinGen Ensembl |
|
|
CA1032534 rs753983825 |
787 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341422769 rs1359840280 |
788 | V>G | No |
ClinGen TOPMed |
|
|
CA341422775 rs147613184 |
789 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1032553 rs147613184 |
789 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA30146847 rs866306125 |
792 | S>G | No |
ClinGen Ensembl |
|
|
rs765015744 CA1032555 |
793 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA30146851 rs974472330 |
796 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs775384383 CA1032556 |
797 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA1032558 rs763880353 |
803 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA1032573 rs781336176 |
804 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453018800 CA341423048 |
805 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1199091936 CA341423060 |
806 | A>V | No |
ClinGen gnomAD |
|
|
CA341423073 rs1188209187 |
807 | Y>C | No |
ClinGen gnomAD |
|
|
CA1032576 rs368296787 |
807 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1032578 rs768558004 |
808 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA341423144 rs1157875329 |
813 | K>N | No |
ClinGen Ensembl |
|
| TCGA novel | 814 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1032579 rs774234209 |
815 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs145648133 | 817 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760770670 CA1032580 |
817 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30147736 rs967537298 |
819 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA1032599 rs768651941 |
821 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs977612683 CA30147748 |
821 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs774322110 CA1032600 |
822 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1032601 rs761654795 |
823 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA1032602 rs771809619 |
825 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1032603 rs369554244 |
826 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA30147772 rs754439690 |
829 | F>L | No |
ClinGen TOPMed |
|
|
rs760296489 CA1032604 |
830 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA1032605 rs765789595 |
831 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1193136854 CA341423273 |
832 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 834 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 834 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs953546824 CA30147801 |
838 | L>V | No |
ClinGen Ensembl |
|
|
CA341423328 rs1248736747 |
840 | N>I | No |
ClinGen TOPMed |
|
|
rs1248736747 CA341423327 |
840 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 841 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM202186 rs751941966 CA1032609 |
841 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA341423347 rs1468505240 |
843 | I>V | No |
ClinGen gnomAD |
|
|
CA1032611 rs143716190 |
844 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1221031315 CA341423376 |
847 | S>C | No |
ClinGen TOPMed |
|
|
rs756302065 CA1032614 |
848 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA341423381 rs1316389221 |
848 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 849 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA30147815 rs373284358 |
851 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1032615 rs373284358 |
851 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199890965 CA1032617 |
852 | I>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1032616 rs199890965 |
852 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1288529310 CA341423410 |
853 | C>Y | No |
ClinGen gnomAD |
|
|
CA30147853 rs3736795 |
854 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs3736795 CA1032618 |
854 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA30147850 rs972268632 |
854 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs138961341 CA1032619 |
855 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341423426 rs1393125749 |
856 | L>F | No |
ClinGen TOPMed |
|
|
CA341423437 rs1195124113 |
857 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1032621 rs772971454 |
858 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772971454 CA1032622 |
858 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1484069406 CA341423444 |
859 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA30147866 rs770550642 |
860 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1032623 rs770550642 |
860 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs551516026 CA30147876 |
861 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1193914529 CA341423472 |
862 | I>V | No |
ClinGen TOPMed |
|
|
CA1032634 rs574519386 |
863 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341423496 rs1571047887 |
865 | G>E | No |
ClinGen Ensembl |
|
|
rs779056991 CA1032636 |
866 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA1032637 rs200970120 |
871 | Q>K | No |
ClinGen 1000Genomes TOPMed |
|
|
CA1032639 rs748019710 |
872 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1032640 rs758293080 |
875 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1294908582 CA341423570 |
876 | V>E | No |
ClinGen gnomAD |
|
|
rs777434802 CA1032641 |
876 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341423577 rs1381375841 |
877 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA341423605 rs1303244634 |
881 | R>K | No |
ClinGen TOPMed |
|
|
CA30148600 rs201344132 |
883 | T>A | No |
ClinGen 1000Genomes |
|
|
CA341423627 rs1367330309 |
884 | T>I | No |
ClinGen gnomAD |
|
|
rs992489735 CA30148606 |
885 | I>V | No |
ClinGen TOPMed |
|
|
CA341423656 rs1357358255 |
889 | S>G | No |
ClinGen gnomAD |
|
|
CA341423665 rs1224071689 |
890 | Q>* | No |
ClinGen gnomAD |
|
|
CA341423669 rs1266195526 |
890 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA341423663 rs1224071689 |
890 | Q>K | No |
ClinGen gnomAD |
|
|
CA1032645 rs745450999 |
891 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA1032644 rs776243159 |
891 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA30148618 rs374145170 |
892 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374145170 CA1032647 |
892 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1032646 rs769282108 |
892 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs373860081 CA1032659 |
897 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1183147378 CA341423724 |
898 | N>H | No |
ClinGen gnomAD |
|
|
rs1469283837 CA341423726 |
898 | N>S | No |
ClinGen TOPMed |
|
|
rs1156493116 CA341423737 |
899 | M>I | No |
ClinGen gnomAD |
|
|
CA341423731 rs1418216182 |
899 | M>V | No |
ClinGen gnomAD |
|
|
CA341423742 rs1413925877 |
900 | A>D | No |
ClinGen gnomAD |
|
|
CA341423747 rs1175659378 |
901 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs757013785 CA1032661 |
901 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA1032664 rs540958048 |
902 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1032665 rs540958048 |
902 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1032666 rs748787130 |
902 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA1032663 rs540958048 |
902 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1032671 rs777075264 |
903 | D>E | No |
ClinGen ExAC TOPMed |
|
|
rs761014592 CA1032670 |
903 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1032668 rs772509172 |
903 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1032669 rs761014592 |
903 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1032667 rs772509172 |
903 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs765511977 CA1032673 |
904 | Y>* | No |
ClinGen ExAC |
|
|
rs759838939 CA1032672 |
904 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA1032674 rs752742683 |
905 | L>F | No |
ClinGen ExAC |
|
|
rs751502774 CA1032677 |
905 | L>H | No |
ClinGen ExAC |
|
|
rs752742683 CA1032676 |
905 | L>I | No |
ClinGen ExAC |
|
|
rs752742683 CA1032675 |
905 | L>V | No |
ClinGen ExAC |
|
|
CA1032681 rs780969734 |
906 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs757130453 CA1032679 |
906 | K>Q | No |
ClinGen ExAC |
|
|
CA341423766 rs1223239056 |
906 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1032682 rs367631829 |
907 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs779739419 CA1032683 |
907 | R>K | No |
ClinGen ExAC TOPMed |
|
|
CA30148870 rs561648630 |
909 | C>Y | No |
ClinGen 1000Genomes TOPMed |
|
|
CA341423790 rs768211246 |
910 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1032685 rs768211246 |
910 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs137952009 CA1032687 |
913 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA341423820 rs1472811169 |
914 | E>G | No |
ClinGen gnomAD |
|
|
CA30148882 rs942848262 |
914 | E>K | No |
ClinGen Ensembl |
|
|
CA341423826 rs1170966709 |
915 | V>D | No |
ClinGen TOPMed |
|
|
rs201509498 CA1032688 |
915 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341423842 rs1416166567 CA341423840 |
916 | M>I | No |
ClinGen gnomAD |
|
|
rs891645466 CA30148887 |
916 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1417698632 CA341423836 |
916 | M>T | No |
ClinGen TOPMed |
|
|
rs891645466 CA341423830 |
916 | M>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 919 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148660903 CA1032690 |
922 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1032691 rs759929295 |
922 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs148660903 CA1032689 |
922 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769959022 CA1032692 |
923 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1332970155 CA341423936 |
924 | H>Y | No |
ClinGen Ensembl |
|
|
rs1024232625 CA30148899 |
926 | E>K | No |
ClinGen TOPMed |
|
|
CA1032695 rs775748226 |
927 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1032696 rs763008067 |
929 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| rs780836502 | 929 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1370163491 CA341424090 |
932 | R>K | No |
ClinGen gnomAD |
|
|
rs866947264 CA30148921 |
936 | E>K | No |
ClinGen gnomAD |
|
|
rs866947264 CA341424160 |
936 | E>Q | No |
ClinGen gnomAD |
|
|
rs1322518828 CA341424259 |
940 | L>R | No |
ClinGen gnomAD |
|
|
CA1032697 rs372899746 |
941 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1032700 rs767394384 |
944 | T>Q | No |
ClinGen ExAC TOPMed |
|
|
rs993797773 CA30148936 |
944 | T>Y | No |
ClinGen TOPMed |
No associated diseases with Q9UNX4
12 regional properties for Q9UNX4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | WD40 repeat | 54 - 228 | IPR001680-1 |
| repeat | WD40 repeat | 400 - 482 | IPR001680-2 |
| repeat | WD40 repeat | 485 - 526 | IPR001680-3 |
| repeat | WD40 repeat | 539 - 577 | IPR001680-4 |
| repeat | WD40 repeat | 580 - 703 | IPR001680-5 |
| domain | Small-subunit processome, Utp12 | 806 - 906 | IPR007148 |
| conserved_site | WD40 repeat, conserved site | 122 - 136 | IPR019775-1 |
| conserved_site | WD40 repeat, conserved site | 206 - 220 | IPR019775-2 |
| repeat | G-protein beta WD-40 repeat | 122 - 136 | IPR020472-1 |
| repeat | G-protein beta WD-40 repeat | 206 - 220 | IPR020472-2 |
| repeat | G-protein beta WD-40 repeat | 511 - 525 | IPR020472-3 |
| domain | Anaphase-promoting complex subunit 4-like, WD40 domain | 61 - 115 | IPR024977 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| nuclear membrane | Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| Pwp2p-containing subcomplex of 90S preribosome | A protein complex that forms a subcomplex of the 90S preribosome and can interact directly with the 5' External Transcribed Spacer (ETS) of the full length pre-rRNA transcript. In S. cerevisiae, it sediments at 25-30 S and is composed of Pwp2p, Dip2p, Utp21p, Utp13p, Utp18p, and Utp6p. |
| small-subunit processome | A large ribonucleoprotein complex that is an early preribosomal complex. In S. cerevisiae, it has a size of 80S and consists of the 35S pre-rRNA, early-associating ribosomal proteins most of which are part of the small ribosomal subunit, the U3 snoRNA and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| snoRNA binding | Binding to a small nucleolar RNA. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| maturation of SSU-rRNA | Any process involved in the maturation of a precursor Small SubUnit (SSU) ribosomal RNA (rRNA) molecule into a mature SSU-rRNA molecule. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGLTKQYLRY | VASAVFGVIG | SQKGNIVFVT | LRGEKGRYVA | VPACEHVFIW | DLRKGEKILI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LQGLKQEVTC | LCPSPDGLHL | AVGYEDGSIR | IFSLLSGEGN | VTFNGHKAAI | TTLKYDQLGG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RLASGSKDTD | IIVWDVINES | GLYRLKGHKD | AITQALFLRE | KNLLVTSGKD | TMVKWWDLDT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QHCFKTMVGH | RTEVWGLVLL | SEEKRLITGA | SDSELRVWDI | AYLQEIEDPE | EPDPKKIKGS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SPGIQDTLEA | EDGAFETDEA | PEDRILSCRK | AGSIMREGRD | RVVNLAVDKT | GRILACHGTD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SVLELFCILS | KKEIQKKMDK | KMKKARKKAK | LHSSKGEEED | PEVNVEMSLQ | DEIQRVTNIK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TSAKIKSFDL | IHSPHGELKA | VFLLQNNLVE | LYSLNPSLPT | PQPVRTSRIT | IGGHRSDVRT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LSFSSDNIAV | LSAAADSIKI | WNRSTLQCIR | TMTCEYALCS | FFVPGDRQVV | IGTKTGKLQL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YDLASGNLLE | TIDAHDGALW | SMSLSPDQRG | FVTGGADKSV | KFWDFELVKD | ENSTQKRLSV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KQTRTLQLDE | DVLCVSYSPN | QKLLAVSLLD | CTVKIFYVDT | LKFFLSLYGH | KLPVICMDIS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| HDGALIATGS | ADRNVKIWGL | DFGDCHKSLF | AHDDSVMYLQ | FVPKSHLFFT | AGKDHKIKQW |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DADKFEHIQT | LEGHHQEIWC | LAVSPSGDYV | VSSSHDKSLR | LWERTREPLI | LEEEREMERE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| AEYEESVAKE | DQPAVPGETQ | GDSYFTGKKT | IETVKAAERI | MEAIELYREE | TAKMKEHKAI |
| 790 | 800 | 810 | 820 | 830 | 840 |
| CKAAGKEVPL | PSNPILMAYG | SISPSAYVLE | IFKGIKSSEL | EESLLVLPFS | YVPDILKLFN |
| 850 | 860 | 870 | 880 | 890 | 900 |
| EFIQLGSDVE | LICRCLFFLL | RIHFGQITSN | QMLVPVIEKL | RETTISKVSQ | VRDVIGFNMA |
| 910 | 920 | 930 | 940 | ||
| GLDYLKRECE | AKSEVMFFAD | ATSHLEEKKR | KRKKREKLIL | TLT |