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 B1ANS9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-B1ANS9-F1 | Predicted | AlphaFoldDB |
877 variants for B1ANS9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA345460815 rs1376190746 |
3 | I>M | No |
ClinGen gnomAD |
|
|
rs531624065 CA40351839 |
5 | K>R | No |
ClinGen 1000Genomes TOPMed |
|
|
rs193223454 COSM3385958 CA345460883 |
8 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes TOPMed gnomAD |
|
rs749363554 CA1479967 |
8 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA40351853 rs193223454 |
8 | R>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1391320473 CA345460897 |
9 | L>P | No |
ClinGen gnomAD |
|
|
rs1023078679 CA40351884 |
11 | M>V | No |
ClinGen gnomAD |
|
|
rs1466291963 CA345460971 |
14 | Q>H | No |
ClinGen gnomAD |
|
|
CA1479968 rs769533043 |
15 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA40351893 rs769533043 |
15 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1479969 rs777592377 |
17 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA345461059 rs1388070188 |
18 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 19 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749607603 CA1479970 |
20 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345461140 rs1573976867 |
21 | A>P | No |
ClinGen Ensembl |
|
|
rs1398117316 CA345461190 |
23 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1334846891 CA345461217 |
24 | R>K | No |
ClinGen TOPMed |
|
|
rs774846141 CA1479972 |
30 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771427966 CA1479971 |
30 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA40351936 rs1002710337 |
31 | Q>* | No |
ClinGen Ensembl |
|
|
CA345461463 rs1438826561 |
34 | A>D | No |
ClinGen TOPMed |
|
|
CA345461474 rs1488838488 |
35 | Q>* | No |
ClinGen gnomAD |
|
|
CA345461485 rs1408512966 |
35 | Q>R | No |
ClinGen TOPMed |
|
|
CA345461522 rs1274590323 |
37 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1266907281 CA345461568 |
40 | R>G | No |
ClinGen gnomAD |
|
|
CA1479974 rs185609089 |
41 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1558454285 CA345461591 |
42 | G>D | No |
ClinGen Ensembl |
|
|
rs1259436214 CA345461585 |
42 | G>S | No |
ClinGen gnomAD |
|
|
CA345461630 rs983408512 CA40351951 |
44 | F>L | No |
ClinGen gnomAD |
|
|
rs1159001763 CA345461654 |
47 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA345461656 rs1369494543 |
47 | K>R | No |
ClinGen gnomAD |
|
|
CA345461669 rs1558454303 |
49 | D>H | No |
ClinGen Ensembl |
|
|
rs1558458597 CA345462608 |
52 | G>A | No |
ClinGen Ensembl |
|
|
rs1558458597 CA345462607 |
52 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs185431381 CA40359793 |
54 | D>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs748944271 CA1479988 |
54 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1229160393 CA345462642 |
55 | K>N | No |
ClinGen gnomAD |
|
|
CA40359804 rs1008080616 |
56 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1173651427 CA345462666 |
57 | Y>F | No |
ClinGen TOPMed |
|
|
CA40359819 rs927668059 |
57 | Y>H | No |
ClinGen TOPMed |
|
|
rs1305946141 CA345462674 |
58 | A>P | No |
ClinGen gnomAD |
|
|
CA1479989 rs150170869 |
59 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345462706 rs1484464978 |
61 | Q>* | No |
ClinGen gnomAD |
|
|
rs1182278499 CA345462729 |
62 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA345462735 rs1404054576 |
63 | L>F | No |
ClinGen gnomAD |
|
|
rs377138338 CA1479992 |
64 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345462746 rs1450648855 |
64 | F>V | No |
ClinGen gnomAD |
|
|
CA345462761 rs1416803426 |
65 | G>C | No |
ClinGen gnomAD |
|
|
CA345462766 rs1573984505 |
65 | G>V | No |
ClinGen Ensembl |
|
|
CA1479993 rs776085437 |
66 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs747029602 CA1479994 |
67 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1479995 rs768724038 |
69 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs901688595 CA345462855 |
72 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs901688595 CA40359925 |
72 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM1340647 CA40359947 rs202067234 |
75 | R>C | upper_aerodigestive_tract large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA1479997 rs202067234 |
75 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1340648 rs765539431 CA1479998 |
75 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1033803480 CA40359955 |
76 | F>I | No |
ClinGen Ensembl |
|
|
CA40359962 rs561741467 |
77 | Y>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1358389212 CA345462902 |
78 | R>G | No |
ClinGen gnomAD |
|
|
rs372998330 CA1479999 |
78 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1445748543 CA345462909 |
79 | K>E | No |
ClinGen TOPMed |
|
|
rs542618040 CA1480000 |
79 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345462918 rs1374701342 |
80 | L>P | No |
ClinGen TOPMed |
|
|
CA345462923 rs1202098669 |
81 | C>Y | No |
ClinGen gnomAD |
|
|
rs77229246 CA1480001 |
82 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs77229246 CA345462928 |
82 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 83 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA40359970 rs994237400 |
83 | N>T | No |
ClinGen TOPMed |
|
|
CA40359978 rs992349636 |
84 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA345462950 rs1426765676 |
85 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs201050656 CA1480003 |
85 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 86 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345462954 rs1261277088 |
86 | A>T | No |
ClinGen gnomAD |
|
|
rs1479254698 CA345462969 |
88 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA345462966 rs1475084226 |
88 | A>T | No |
ClinGen TOPMed |
|
|
rs1213623383 CA345462978 |
89 | D>E | No |
ClinGen TOPMed |
|
|
CA40360012 rs181115575 |
89 | D>H | No |
ClinGen 1000Genomes |
|
|
CA1480004 rs763685337 |
92 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345463407 rs1573992772 |
93 | I>N | No |
ClinGen Ensembl |
|
|
rs776664953 CA345463438 |
97 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1480014 rs769206268 |
97 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1250648006 CA345463441 |
98 | S>P | No |
ClinGen TOPMed |
|
|
CA345463448 rs1468665947 |
99 | S>A | No |
ClinGen TOPMed |
|
|
CA345463451 rs1268935495 |
99 | S>Y | No |
ClinGen TOPMed |
|
|
rs1480542148 CA345463452 |
100 | E>K | No |
ClinGen TOPMed |
|
|
CA40372680 rs912499905 |
101 | E>Q | No |
ClinGen Ensembl |
|
|
rs1231314485 CA345463472 |
102 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA40372691 rs568894582 |
103 | P>H | No |
ClinGen Ensembl |
|
| TCGA novel | 103 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1299703524 CA345463480 |
104 | I>L | No |
ClinGen gnomAD |
|
|
CA345463486 rs1247982798 |
104 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1052758194 CA40372719 |
105 | A>V | No |
ClinGen Ensembl |
|
|
CA1480016 rs748262604 |
107 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1381240136 CA345463525 |
110 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA40372722 rs367605451 |
110 | E>V | No |
ClinGen Ensembl |
|
|
rs1252233690 CA345463531 |
111 | E>G | No |
ClinGen gnomAD |
|
|
CA345463558 rs1327033053 COSM1232632 |
115 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA1480019 rs371115744 |
116 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345463582 rs1405883719 |
118 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 119 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs991408864 CA40372751 |
121 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs761560844 CA40372775 |
122 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
COSM906445 CA345463605 rs1302850245 |
122 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs970958056 CA345463622 |
125 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA40372781 rs970958056 |
125 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1335596020 CA345463655 |
128 | S>G | No |
ClinGen gnomAD |
|
|
CA40375683 rs536803237 |
129 | R>T | No |
ClinGen gnomAD |
|
|
CA40375684 rs1056141766 |
130 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1355907897 CA345463669 |
130 | R>K | No |
ClinGen TOPMed |
|
|
CA1480026 rs764737176 |
131 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345463675 rs1244527191 |
131 | R>Q | No |
ClinGen gnomAD |
|
|
rs896021846 CA40375688 |
132 | D>G | No |
ClinGen TOPMed |
|
|
CA1480027 rs750091473 |
133 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 136 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1193736292 CA345463715 |
137 | I>V | No |
ClinGen gnomAD |
|
|
CA345463723 rs1450157841 |
138 | V>D | No |
ClinGen TOPMed |
|
| TCGA novel | 138 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1020556156 CA40375698 |
140 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA40375696 rs936178914 |
140 | I>V | No |
ClinGen Ensembl |
|
|
CA345463752 rs1440765243 |
142 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA40375705 rs904748374 |
144 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA345463761 rs904748374 |
144 | D>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 146 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345463789 rs1212140804 |
148 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs780449699 CA345463803 |
151 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs780449699 CA1480029 |
151 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA345463812 rs1558465349 |
152 | K>T | No |
ClinGen Ensembl |
|
|
rs1000212155 CA40375719 |
154 | L>I | No |
ClinGen TOPMed |
|
|
rs368459152 CA1480030 |
157 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345463883 rs1183023195 |
159 | N>I | No |
ClinGen gnomAD |
|
|
CA345463896 rs1390892850 |
160 | N>I | No |
ClinGen gnomAD |
|
|
rs755442326 CA345463913 |
161 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768664033 CA1480043 |
163 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1480044 rs776721259 |
166 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA345464259 rs1299742301 |
167 | T>I | No |
ClinGen TOPMed |
|
|
rs1386480355 CA345464260 |
168 | G>R | No |
ClinGen gnomAD |
|
|
CA1480045 rs761157733 |
169 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA1480046 rs184957108 |
171 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345464286 rs1574001258 |
171 | Y>S | No |
ClinGen Ensembl |
|
|
CA1480047 rs749955342 |
175 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1480048 rs41304038 |
177 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766054566 CA1480049 |
178 | I>F | No |
ClinGen ExAC |
|
|
CA1480051 rs751876755 |
179 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1480050 rs751876755 |
179 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 182 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1356222483 CA345464351 |
182 | T>S | No |
ClinGen TOPMed |
|
|
rs372920259 CA1480053 |
183 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA40379102 rs756639803 |
184 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1480054 rs756639803 |
184 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203396750 CA345464370 |
185 | T>I | No |
ClinGen gnomAD |
|
|
rs201119556 CA40379107 |
186 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA345464372 rs201119556 |
186 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1250591400 CA345464378 |
187 | I>V | No |
ClinGen TOPMed |
|
|
rs1201922820 CA345464387 |
188 | V>D | No |
ClinGen gnomAD |
|
|
rs1490559690 CA345464384 |
188 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 190 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA40379114 rs1049124894 |
190 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1049124894 CA345464400 |
190 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA345464436 rs1254794517 |
195 | G>R | No |
ClinGen TOPMed |
|
|
rs1209974247 CA345464443 |
196 | S>G | No |
ClinGen TOPMed |
|
|
rs1365995649 CA345464461 |
198 | Q>P | No |
ClinGen gnomAD |
|
|
CA40381356 rs995885209 |
203 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1176400520 CA345465014 |
204 | I>T | No |
ClinGen gnomAD |
|
|
rs1224993338 CA345465044 |
206 | P>S | No |
ClinGen gnomAD |
|
|
rs1490250215 CA345465116 |
210 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA345465168 rs1253131614 |
213 | C>R | No |
ClinGen gnomAD |
|
|
rs1574005128 CA345465171 |
213 | C>Y | No |
ClinGen Ensembl |
|
|
CA1480067 rs762396165 |
215 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs369596963 CA1480068 |
216 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773999902 CA345465243 |
218 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1480069 rs773999902 |
218 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175094346 CA345465263 |
219 | L>S | No |
ClinGen gnomAD |
|
|
rs969241282 CA345465293 |
221 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA40381404 rs969241282 |
221 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA40381395 rs959684552 |
221 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs959684552 CA345465290 |
221 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA345465336 rs1299617783 |
224 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA345465340 rs1299617783 |
224 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs372317072 CA1480070 |
225 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA40381412 rs181076489 |
225 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA1480072 rs753053794 |
226 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1480071 rs767856757 |
226 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248183631 CA345465388 |
227 | D>G | No |
ClinGen gnomAD |
|
|
CA1480073 rs756614817 |
228 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1480074 rs764539282 |
229 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329218163 CA345465459 |
232 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA345465481 rs1574005267 |
233 | D>V | No |
ClinGen Ensembl |
|
|
rs761205944 CA40381430 |
234 | G>E | No |
ClinGen Ensembl |
|
|
CA40381434 rs868132782 |
235 | G>D | No |
ClinGen Ensembl |
|
|
rs1479902390 CA345465546 |
240 | F>L | No |
ClinGen gnomAD |
|
|
CA345465593 rs1446979145 |
246 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs960647600 CA40381443 |
248 | G>A | No |
ClinGen Ensembl |
|
|
rs1387112245 CA345465616 |
249 | I>M | No |
ClinGen gnomAD |
|
|
rs1428719232 CA345465618 |
250 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 251 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 251 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA40381448 rs894796580 |
252 | A>E | No |
ClinGen gnomAD |
|
|
CA345465657 rs1329592651 |
255 | K>R | No |
ClinGen gnomAD |
|
|
CA40381459 rs982477363 |
256 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA345465683 rs1303218178 |
259 | Q>* | No |
ClinGen gnomAD |
|
|
rs1408161804 CA345465686 |
259 | Q>R | No |
ClinGen gnomAD |
|
|
CA345465698 rs1223077460 |
261 | Q>E | No |
ClinGen gnomAD |
|
|
rs868315829 CA40381469 |
262 | V>I | No |
ClinGen Ensembl |
|
|
CA1480077 rs779210002 |
263 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1334761555 CA345465717 |
264 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs141045147 CA345465726 |
265 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1320091615 CA345465729 |
265 | S>L | No |
ClinGen gnomAD |
|
|
CA1480078 rs141045147 |
265 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs973514889 CA40381477 |
266 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1305996139 CA345465752 |
268 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA345465770 rs1227064261 |
270 | S>I | No |
ClinGen gnomAD |
|
|
rs1227064261 CA345465773 |
270 | S>N | No |
ClinGen gnomAD |
|
|
rs1326145163 CA345466249 |
271 | V>I | No |
ClinGen gnomAD |
|
|
rs1457289149 CA345466289 |
276 | H>Q | No |
ClinGen TOPMed |
|
|
CA1480096 rs750575442 |
276 | H>R | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA345466294 rs1295087836 |
277 | N>S | No |
ClinGen gnomAD |
|
|
CA1480097 rs758659495 |
279 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA345466311 rs1349977943 |
279 | W>L | No |
ClinGen TOPMed |
|
|
COSM258366 rs780168149 CA1480098 |
280 | V>A | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA345466328 rs1427459073 |
282 | K>Q | No |
ClinGen TOPMed |
|
|
CA1480099 rs747922111 |
283 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA345466337 rs1365214000 |
283 | I>V | No |
ClinGen gnomAD |
|
|
rs369867512 CA40383449 |
284 | R>T | No |
ClinGen Ensembl |
|
|
CA40383455 rs755868273 |
288 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA1480100 rs755868273 |
288 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1480101 rs538812612 |
289 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1480102 rs372820436 |
290 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345466397 rs1402405369 |
292 | F>C | No |
ClinGen gnomAD |
|
|
CA345466396 rs1402405369 |
292 | F>S | No |
ClinGen gnomAD |
|
|
CA345466401 rs1423234842 |
293 | G>R | No |
ClinGen Ensembl |
|
|
rs770905326 CA1480106 |
296 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA40383488 rs942487396 |
299 | S>G | No |
ClinGen TOPMed |
|
|
CA1480108 rs745415970 |
299 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs74605173 CA1480109 |
300 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1322857227 CA345466467 |
302 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs370787450 CA1480112 |
303 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1226029417 CA345466479 |
304 | V>G | No |
ClinGen gnomAD |
|
|
rs1275686859 CA345466475 |
304 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 305 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA40383502 rs1029894824 |
307 | S>F | No |
ClinGen Ensembl |
|
|
CA345466512 rs1574009019 |
309 | K>M | No |
ClinGen Ensembl |
|
|
rs1574009029 CA345466518 |
310 | R>I | No |
ClinGen Ensembl |
|
|
CA345466526 rs1574009033 |
311 | L>P | No |
ClinGen Ensembl |
|
|
CA345466523 rs1298849229 |
311 | L>V | No |
ClinGen TOPMed |
|
|
rs1198369215 CA345466531 |
312 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1480115 rs375175483 |
312 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375175483 CA345466528 |
312 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1178105 CA345466539 rs1233264403 |
313 | D>V | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA345440526 rs142174601 |
316 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1480138 rs142174601 |
316 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759647413 CA345440587 |
319 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs759647413 CA1480141 |
319 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs767812328 CA1480142 |
320 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs753582857 CA1480143 |
322 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA345440731 rs1338099391 |
325 | G>E | No |
ClinGen gnomAD |
|
|
CA1480145 rs778753035 |
329 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243602082 CA345440875 |
330 | C>F | No |
ClinGen gnomAD |
|
| TCGA novel | 330 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779405784 CA1480148 |
331 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs373654417 CA1480146 |
331 | Y>H | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs373654417 CA1480147 |
331 | Y>N | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA1480149 rs746565336 |
332 | C>Y | No |
ClinGen ExAC |
|
|
rs1289179883 CA345440936 |
333 | V>L | No |
ClinGen TOPMed |
|
|
CA1480151 rs781010948 |
335 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA345441047 rs1244724600 |
336 | N>Y | No |
ClinGen TOPMed |
|
|
rs1360677347 CA345441107 |
337 | V>A | No |
ClinGen TOPMed |
|
|
CA40341575 rs900582344 |
338 | I>T | No |
ClinGen TOPMed |
|
|
CA345441184 rs1461696963 |
340 | T>I | No |
ClinGen gnomAD |
|
|
rs367638045 CA1480153 |
341 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1480154 rs773774286 |
342 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345443399 rs1239738714 |
347 | I>S | No |
ClinGen gnomAD |
|
|
rs147552084 CA345443413 |
348 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147552084 CA1480185 |
348 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1480184 COSM1560746 rs751512962 |
348 | R>W | Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA345443445 rs1225130851 |
350 | W>* | No |
ClinGen gnomAD |
|
|
CA1480187 rs752299084 |
350 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs1574042662 CA345443461 |
351 | H>P | No |
ClinGen Ensembl |
|
|
CA345443519 rs1433084587 |
353 | N>T | No |
ClinGen gnomAD |
|
|
CA345443569 rs1420970643 |
354 | I>M | No |
ClinGen TOPMed |
|
|
CA1480190 rs56327926 |
357 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1480192 rs142030663 |
359 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142030663 CA1480193 |
359 | V>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345443730 COSM679701 rs1450268134 |
360 | G>E | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA1480195 rs772615279 |
362 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772615279 CA1480196 |
362 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750736688 CA1480198 |
364 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1035937468 CA40350352 |
364 | G>R | No |
ClinGen Ensembl |
|
|
rs750736688 CA40350353 |
364 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs374375319 CA1480199 |
366 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA345443981 rs1309128768 |
367 | F>L | No |
ClinGen gnomAD |
|
|
CA345444062 rs1254228629 |
369 | I>V | No |
ClinGen TOPMed |
|
|
rs377288411 CA1480204 |
370 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA40350361 rs1013629031 |
370 | A>V | No |
ClinGen TOPMed |
|
|
rs759519562 CA1480206 |
371 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345444198 rs146321451 |
372 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345444188 rs1196760359 |
372 | I>S | No |
ClinGen gnomAD |
|
|
CA1480208 rs752206627 |
373 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1480209 rs752206627 |
373 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs201617636 CA1480210 |
374 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1446047811 CA345444277 |
375 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs756917112 CA1480212 |
376 | E>G | No |
ClinGen ExAC TOPMed |
|
|
CA345444375 rs1162338603 |
378 | D>Y | No |
ClinGen gnomAD |
|
|
rs779312990 CA1480213 |
380 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1299673311 CA345444462 |
381 | V>F | No |
ClinGen gnomAD |
|
|
rs780558450 CA1480216 |
382 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA40350394 rs766877773 |
385 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1248433038 CA345444550 |
386 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA1480219 rs568273380 |
387 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345448087 rs771990172 |
390 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs771990172 CA1480246 |
390 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs746918737 CA1480248 |
391 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1480247 rs775485533 |
391 | R>W | Variant assessed as Somatic; 4.637e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1300343248 CA345448109 |
392 | V>M | No |
ClinGen gnomAD |
|
|
CA40361988 rs148636981 |
393 | W>* | No |
ClinGen TOPMed |
|
|
CA1480250 rs776166979 |
393 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA345448140 rs1250892203 |
394 | D>Y | No |
ClinGen TOPMed |
|
|
rs761247474 CA1480251 |
397 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1480252 rs764882683 |
398 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA345448202 rs764882683 |
398 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA40362005 rs941607107 |
402 | Q>P | No |
ClinGen TOPMed |
|
|
rs1438477996 CA345448297 |
403 | V>L | No |
ClinGen TOPMed |
|
|
rs1369702531 CA345448303 |
404 | F>I | No |
ClinGen TOPMed |
|
|
rs1283360067 CA345448326 |
405 | H>P | No |
ClinGen gnomAD |
|
|
CA1480255 rs147647414 |
410 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs762658250 CA345448414 |
411 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1480256 rs762658250 |
411 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1480257 rs762658250 |
411 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345448408 rs1397495668 |
411 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 413 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1476984988 CA345448464 |
414 | M>T | No |
ClinGen gnomAD |
|
|
CA1480258 rs376265892 |
415 | Q>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs767935963 CA1480261 |
423 | A>D | No |
ClinGen ExAC |
|
|
rs1160533747 CA345448631 |
424 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1480263 rs756153372 |
425 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs537478456 CA1480262 |
425 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345448704 rs1304109028 COSM1501991 |
427 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 429 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144238421 CA1480264 |
430 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP NCI-TCGA TOPMed gnomAD |
|
rs764249954 CA345449011 |
431 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764249954 CA1480285 |
431 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1480286 rs754007885 |
432 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs757510698 CA1480287 |
433 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779296130 CA1480288 |
435 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196714166 CA345449093 |
435 | M>V | No |
ClinGen gnomAD |
|
|
rs1457416097 CA345449125 |
436 | D>G | No |
ClinGen gnomAD |
|
|
rs751310635 CA1480289 |
437 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1239392102 CA345449137 |
437 | M>V | No |
ClinGen gnomAD |
|
|
CA1480290 rs754732988 |
439 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 442 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781107790 CA1480291 |
443 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs957301231 CA40364305 |
444 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs769812765 CA1480293 |
444 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs748021529 CA1480292 |
444 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1480294 rs777227258 |
445 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA40364330 rs886318409 |
446 | D>E | No |
ClinGen gnomAD |
|
|
rs1482375679 CA345449256 |
446 | D>H | No |
ClinGen TOPMed |
|
|
CA345449300 rs1446894466 |
449 | Q>H | No |
ClinGen gnomAD |
|
|
rs370200542 CA1480296 |
450 | V>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs748820358 CA40364339 |
450 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748820358 CA1480295 |
450 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774001815 CA1480299 |
451 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1480298 rs770513110 |
451 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs759303600 CA1480300 |
453 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345449343 rs1226437928 |
454 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 455 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1201060683 CA345449355 |
455 | E>G | No |
ClinGen gnomAD |
|
|
CA1480301 rs772314124 |
455 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1480302 rs775974984 |
456 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345449364 rs150454119 |
456 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150454119 CA345449365 |
456 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1480303 rs150454119 |
456 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1480304 rs764726364 |
457 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1574059840 CA345449392 |
459 | N>D | No |
ClinGen Ensembl |
|
|
rs753916737 CA1480305 |
461 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA345449414 rs1243044598 |
461 | M>V | No |
ClinGen gnomAD |
|
|
CA345449436 rs1409830178 |
463 | Y>H | No |
ClinGen gnomAD |
|
|
rs995906898 CA40364403 |
464 | N>D | No |
ClinGen gnomAD |
|
|
CA345449457 rs761993944 |
464 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1480307 rs765489068 |
466 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA1480308 rs145306473 |
468 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1480309 rs758702849 |
469 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA1480312 rs755998354 |
469 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs758702849 CA1480310 |
469 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs752569795 CA1480311 |
469 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA1480314 rs777701343 |
472 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1480315 rs748730390 |
474 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770427230 CA345449572 |
475 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457114268 CA345449567 |
475 | S>P | No |
ClinGen TOPMed |
|
|
rs770427230 CA1480316 |
475 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs568325933 CA1480317 |
476 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs867834075 CA40364526 |
476 | E>K | No |
ClinGen Ensembl |
|
|
rs1199959766 CA345449592 |
478 | I>L | No |
ClinGen gnomAD |
|
|
CA345449618 rs1214834355 |
480 | R>S | No |
ClinGen gnomAD |
|
|
rs745488326 CA1480318 |
480 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1480337 rs745411265 |
481 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 482 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345450650 rs1391940886 |
482 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA40366284 rs897088142 |
483 | E>Q | No |
ClinGen Ensembl |
|
|
CA345450694 rs1379292679 COSM1722949 |
485 | E>K | NS [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1480340 rs369922946 |
486 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1247388834 CA345450729 |
487 | G>A | No |
ClinGen gnomAD |
|
|
rs769138308 CA1480341 |
487 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264103612 CA345450754 |
489 | Q>R | No |
ClinGen gnomAD |
|
|
CA345450801 rs371271800 CA345450805 COSM364947 |
491 | Y>* | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA1480343 rs748641787 |
491 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA1480345 rs773119823 |
492 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA345450838 rs1177475559 |
493 | I>V | No |
ClinGen gnomAD |
|
|
rs1190304084 CA345450885 |
495 | E>D | No |
ClinGen TOPMed |
|
|
rs763108715 CA1480346 |
495 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA40366368 rs1048536656 |
496 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA345450910 rs1367716515 |
497 | H>R | No |
ClinGen gnomAD |
|
|
CA1480349 rs774629417 |
500 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 500 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 505 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763858582 CA1480351 |
506 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1574062423 CA345451139 |
508 | V>I | No |
ClinGen Ensembl |
|
|
rs201509864 CA1480353 |
509 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311025056 CA345451264 |
511 | S>N | No |
ClinGen gnomAD |
|
|
CA345451256 rs1398048975 |
511 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA345451288 rs1311025056 |
511 | S>T | No |
ClinGen gnomAD |
|
|
CA1480354 rs777137576 |
514 | L>I | No |
ClinGen Ensembl |
|
|
CA1480356 rs559735926 |
514 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 515 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1480357 rs749842752 |
516 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs528773575 CA1480358 |
517 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA40366473 rs369207105 |
518 | G>V | No |
ClinGen ESP TOPMed |
|
|
CA1480359 rs779492445 |
519 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165449654 CA345451487 |
520 | Y>C | No |
ClinGen TOPMed |
|
|
CA345451533 rs10802990 |
521 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1179822415 CA345451534 |
522 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1207093135 CA345453194 |
522 | G>V | No |
ClinGen TOPMed |
|
|
rs1574067226 CA345453215 |
523 | T>R | No |
ClinGen Ensembl |
|
|
CA345453220 rs1328794382 |
524 | V>I | No |
ClinGen TOPMed |
|
|
rs765013630 CA1480376 |
525 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA1480378 rs762856101 |
527 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762856101 CA345453300 |
527 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs557824749 CA1480377 |
527 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1443279774 CA345453565 |
535 | M>I | No |
ClinGen gnomAD |
|
|
rs947588343 CA345453678 |
539 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA40370672 rs947588343 |
539 | P>R | No |
ClinGen TOPMed |
|
|
CA40370680 rs1043100542 |
540 | E>G | No |
ClinGen TOPMed |
|
|
rs781006946 COSM4143577 CA1480382 |
541 | G>W | thyroid Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1480384 rs756496380 |
542 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA1480386 rs749783332 |
544 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs778058275 CA1480385 |
544 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1480387 rs202030628 |
545 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1401936986 CA345453873 |
546 | E>G | No |
ClinGen TOPMed |
|
|
rs200339413 CA1480390 |
549 | H>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775690590 CA345453976 |
551 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1480391 rs775690590 |
551 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1480392 rs760868803 COSM1725215 |
552 | R>* | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1248349067 CA345453988 |
552 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs76254601 CA1480393 |
553 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1189531256 CA345454015 |
554 | L>F | No |
ClinGen gnomAD |
|
|
rs559946773 CA40370747 |
555 | I>L | No |
ClinGen 1000Genomes gnomAD |
|
|
rs772928037 CA1480394 |
559 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766257747 CA1480396 |
561 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA40370778 rs528700081 |
564 | Q>K | No |
ClinGen 1000Genomes gnomAD |
|
|
CA1480399 rs759124216 |
565 | Q>P | No |
ClinGen ExAC |
|
|
rs1435008585 CA345454242 |
567 | V>A | No |
ClinGen gnomAD |
|
|
rs1324629038 CA345454256 |
568 | L>P | No |
ClinGen gnomAD |
|
|
rs1324629038 CA345454255 |
568 | L>Q | No |
ClinGen gnomAD |
|
|
rs752384915 CA1480401 |
571 | E>G | No |
ClinGen ExAC |
|
|
rs766118886 CA1480402 |
572 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345454421 rs778173273 |
573 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA40370846 rs945323064 |
573 | N>S | No |
ClinGen Ensembl |
|
|
CA345454423 CA1480404 rs754188879 |
574 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757736913 CA1480405 COSM533658 |
578 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1042035951 CA40370862 |
578 | M>V | No |
ClinGen Ensembl |
|
|
CA1480407 rs745879543 |
579 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs779403355 CA1480406 |
579 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs564164315 CA1480408 |
580 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1187715338 CA345455510 |
581 | G>A | No |
ClinGen gnomAD |
|
|
rs770837206 CA1480435 |
582 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1480437 rs774338113 |
584 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs745772881 CA1480438 |
585 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1044726767 CA40375902 |
586 | I>T | No |
ClinGen TOPMed |
|
|
rs772171954 CA1480440 |
587 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA1480442 rs775018134 |
587 | Y>S | No |
ClinGen ExAC |
|
|
CA40375926 rs904841684 |
588 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 588 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760119660 CA1480445 CA1480443 CA1480444 |
589 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 589 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1183499247 CA345455624 |
589 | M>T | No |
ClinGen gnomAD |
|
|
rs1278635422 CA345455666 |
592 | W>* | No |
ClinGen gnomAD |
|
|
rs761507864 CA1480446 |
593 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA345455695 rs1216765261 |
595 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1480449 rs74150406 |
597 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1480448 rs765559542 |
597 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1484825511 CA345455777 |
600 | F>L | No |
ClinGen gnomAD |
|
|
rs751599136 TCGA novel CA1480452 |
602 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
rs373414526 CA1480451 |
602 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs957957194 CA40375965 |
603 | D>N | No |
ClinGen Ensembl |
|
|
rs755009789 CA1480453 |
603 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1478033648 CA345455876 |
606 | H>Q | No |
ClinGen gnomAD |
|
|
rs147782744 CA1480454 |
606 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA40375995 rs948880199 |
607 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1480455 rs748295915 |
608 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1267488958 CA345455940 |
610 | L>P | No |
ClinGen TOPMed |
|
|
rs567674011 CA1480457 |
612 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745684880 CA1480458 |
617 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA345456091 rs1397929004 |
618 | N>K | No |
ClinGen gnomAD |
|
|
rs772080131 CA1480459 |
619 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1010365744 CA40376016 COSM906480 |
620 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs779862935 CA1480460 |
621 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1480461 rs747031930 |
622 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777720334 CA40376025 |
625 | D>H | No |
ClinGen gnomAD |
|
|
CA345456223 rs1233923742 |
626 | V>I | No |
ClinGen gnomAD |
|
|
CA1480463 rs776250752 |
627 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs141024012 CA1480466 |
629 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345456307 rs1200345849 |
630 | V>I | No |
ClinGen gnomAD |
|
|
CA1480468 rs763319902 |
633 | N>K | No |
ClinGen ExAC |
|
|
CA1480469 rs553701202 |
634 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 635 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1480470 rs751998817 |
636 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA345456445 rs1381783959 |
637 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA345456462 rs1417587678 |
637 | P>L | No |
ClinGen gnomAD |
|
|
CA345456443 rs1381783959 |
637 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1480472 rs760138927 |
638 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1480471 rs760138927 |
638 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1480476 rs573500108 |
639 | D>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1480474 rs756360548 |
639 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1480475 rs573500108 |
639 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345439543 rs1321495700 |
643 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 644 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM219147 CA1480492 rs764339981 |
647 | R>* | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1480493 VAR_043138 rs12095445 |
647 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA345439590 rs1291934183 |
650 | C>G | No |
ClinGen gnomAD |
|
|
rs1334791137 CA345439593 |
650 | C>Y | No |
ClinGen gnomAD |
|
|
rs757544644 CA1480494 |
651 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA40331656 rs200372050 |
658 | G>V | No |
ClinGen gnomAD |
|
|
CA345439671 rs1425261066 |
661 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA345439684 rs145632789 |
663 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1480498 rs145632789 |
663 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747590089 CA1480499 |
664 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1440159868 CA345439703 |
667 | L>I | No |
ClinGen TOPMed |
|
|
CA1480501 rs149144581 |
668 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1224599107 CA345439721 |
669 | G>D | No |
ClinGen TOPMed |
|
|
CA345439727 rs1286846924 |
670 | V>M | No |
ClinGen TOPMed |
|
|
CA345439746 rs1223623631 |
672 | I>M | No |
ClinGen TOPMed |
|
|
CA733688039 rs1374304421 |
674 | W>* | No |
ClinGen TOPMed |
|
| TCGA novel | 674 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1480503 rs770649017 |
676 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311493053 CA345439774 |
676 | F>V | No |
ClinGen gnomAD |
|
|
CA345439780 CA40331716 rs371279923 |
677 | V>L | No |
ClinGen ESP gnomAD |
|
|
CA1480504 rs561961345 |
678 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1416348568 CA345439790 |
679 | S>P | No |
ClinGen Ensembl |
|
|
CA345439810 rs1296253777 |
682 | K>Q | No |
ClinGen gnomAD |
|
|
rs879137983 CA40331722 |
682 | K>R | No |
ClinGen Ensembl |
|
|
rs761319395 CA1480508 |
683 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 684 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758209571 CA40331729 |
684 | V>E | No |
ClinGen Ensembl |
|
|
rs764243862 CA1480509 |
684 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA40333830 rs900186083 |
686 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs555147652 CA1480522 |
686 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs997192262 CA40333856 |
687 | P>S | No |
ClinGen gnomAD |
|
|
rs1343769464 CA345440832 |
688 | E>D | No |
ClinGen gnomAD |
|
|
rs1455733205 CA345440941 |
693 | V>I | No |
ClinGen gnomAD |
|
|
CA40333868 rs908001210 |
695 | P>L | No |
ClinGen TOPMed |
|
|
CA345441116 rs1394703025 |
698 | H>N | No |
ClinGen gnomAD |
|
|
rs999018425 CA40333891 |
701 | H>R | No |
ClinGen Ensembl |
|
|
CA345441241 rs1161767824 |
704 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA345441276 rs1343930665 |
706 | D>E | No |
ClinGen gnomAD |
|
|
rs1237323170 CA345441282 |
707 | I>K | No |
ClinGen TOPMed |
|
|
CA345441278 rs1453728349 |
707 | I>L | No |
ClinGen gnomAD |
|
|
CA345441277 rs1453728349 |
707 | I>V | No |
ClinGen gnomAD |
|
|
CA345441306 rs1438096327 |
709 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1480523 rs745577783 |
710 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772475450 CA345441344 |
712 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1480525 COSM218399 rs536501700 |
712 | R>H | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1480524 rs772475450 |
712 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316264367 CA345441359 |
713 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1316264367 CA345441356 |
713 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA345441368 rs1267158188 |
714 | P>H | No |
ClinGen gnomAD |
|
|
CA345441374 rs1469826567 |
715 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1191859318 CA345441391 |
716 | C>R | No |
ClinGen gnomAD |
|
|
rs1252551849 CA345441398 |
716 | C>S | No |
ClinGen gnomAD |
|
|
rs1037910619 CA40333914 |
717 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA40333922 rs990809704 |
718 | R>T | No |
ClinGen Ensembl |
|
|
CA345442237 rs1182838982 |
721 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs956393648 CA40334756 |
722 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA40334763 rs968007911 |
724 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 725 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1423790507 CA345442327 |
725 | I>M | No |
ClinGen gnomAD |
|
|
rs751156360 CA40334798 |
725 | I>T | No |
ClinGen gnomAD |
|
|
CA1480531 rs374393927 |
725 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1411167362 CA345442385 |
728 | S>A | No |
ClinGen gnomAD |
|
| TCGA novel | 728 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1256992759 CA345442420 |
729 | S>C | No |
ClinGen TOPMed |
|
|
rs377139607 CA40334807 |
730 | Q>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA345442456 rs947772410 |
731 | C>R | No |
ClinGen TOPMed |
|
|
CA40334809 rs947772410 |
731 | C>S | No |
ClinGen TOPMed |
|
|
rs1326364433 CA345442502 |
733 | S>F | No |
ClinGen gnomAD |
|
|
rs1353588187 CA345442507 |
734 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 736 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs980530854 CA40334817 |
739 | S>N | No |
ClinGen TOPMed |
|
|
rs933795289 CA40334822 |
741 | K>R | No |
ClinGen TOPMed |
|
|
CA40335347 rs919724893 |
746 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 746 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345442863 rs1268542396 |
746 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1480540 rs778348601 |
748 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA40335348 rs990694104 |
749 | D>G | No |
ClinGen TOPMed |
|
|
CA345443023 rs1210041179 |
754 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 756 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345443210 rs1574087160 |
757 | T>A | No |
ClinGen Ensembl |
|
|
rs1203955798 CA345443218 |
757 | T>I | No |
ClinGen gnomAD |
|
|
rs1203955798 CA345443216 |
757 | T>R | No |
ClinGen gnomAD |
|
|
rs1284203314 CA345443226 |
758 | D>G | No |
ClinGen gnomAD |
|
|
CA40336005 rs1012293904 |
759 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA40336008 rs1012293904 |
759 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1215056529 CA345443249 |
760 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs988814585 CA40336018 |
760 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs373766504 CA345443296 |
764 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345443309 rs1574087201 |
764 | Q>H | No |
ClinGen Ensembl |
|
|
rs373766504 CA1480550 |
764 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1408508476 CA345443349 |
766 | P>Q | No |
ClinGen TOPMed |
|
|
CA345443339 rs1397007848 |
766 | P>T | No |
ClinGen TOPMed |
|
|
CA1480551 rs771166930 |
767 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1020922687 CA40336051 |
770 | K>N | No |
ClinGen TOPMed |
|
|
rs957919467 CA40336052 |
773 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA345443575 rs1412879554 |
773 | G>R | No |
ClinGen TOPMed |
|
|
rs376364741 CA1480553 |
774 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376125686 CA1480554 |
775 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345443635 rs376125686 |
775 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1574087239 CA345443662 |
776 | N>S | No |
ClinGen Ensembl |
|
|
rs926732765 CA40336060 |
778 | P>L | No |
ClinGen Ensembl |
|
|
rs979493230 CA40336055 |
778 | P>S | No |
ClinGen TOPMed |
|
|
rs979493230 CA345443731 |
778 | P>T | No |
ClinGen TOPMed |
|
|
rs1391402194 CA345443787 |
779 | E>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 780 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1461983221 CA345443815 |
780 | A>V | No |
ClinGen gnomAD |
|
|
rs987233995 CA40336065 |
781 | Q>E | No |
ClinGen TOPMed |
|
|
rs146683597 CA1480555 |
782 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1354816686 CA345443889 |
783 | P>L | No |
ClinGen TOPMed |
|
|
rs370446468 CA1480556 |
783 | P>S | No |
ClinGen ESP ExAC TOPMed |
|
|
CA345444058 rs1553380010 |
789 | H>N | No |
ClinGen Ensembl |
|
| TCGA novel | 790 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1480557 rs550648149 |
790 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 791 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1318780915 CA345444197 |
792 | G>R | No |
ClinGen TOPMed |
|
|
CA40336081 rs567276731 |
795 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1480559 rs567276731 |
795 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA40336087 rs529696787 |
795 | R>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs529696787 CA345444313 |
795 | R>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs529696787 CA345444303 |
795 | R>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA1480560 rs546631926 |
796 | L>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345444419 rs1558519274 |
797 | W>* | No |
ClinGen Ensembl |
|
|
rs931535715 CA40336097 |
798 | T>S | No |
ClinGen TOPMed |
|
|
rs377727182 CA1480561 |
799 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259574926 CA345445787 |
802 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1258041522 CA345445789 |
803 | L>I | No |
ClinGen gnomAD |
|
|
CA345445831 rs1486602212 |
806 | D>G | No |
ClinGen gnomAD |
|
|
CA345445833 rs1486602212 |
806 | D>V | No |
ClinGen gnomAD |
|
|
CA345445849 rs1256727214 |
807 | M>I | No |
ClinGen gnomAD |
|
|
rs959915952 CA40337835 |
807 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1423281068 CA345445864 |
809 | P>T | No |
ClinGen gnomAD |
|
|
CA345445892 rs1025782551 |
811 | T>K | No |
ClinGen gnomAD |
|
|
CA40337852 rs1025782551 |
811 | T>R | No |
ClinGen gnomAD |
|
|
CA40337872 rs951577044 |
815 | A>V | No |
ClinGen gnomAD |
|
|
rs1363545852 CA345445953 |
816 | I>N | No |
ClinGen TOPMed |
|
|
CA40337878 rs984335735 |
818 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA1480573 rs768479175 |
820 | S>L | Variant assessed as Somatic; 0.0002418 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1355407094 CA345446064 |
822 | Y>C | No |
ClinGen gnomAD |
|
|
rs1324313466 CA345446126 |
825 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1324313466 CA345446129 |
825 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA345446143 rs1226309300 |
826 | C>R | No |
ClinGen gnomAD |
|
|
rs761766060 CA1480575 |
827 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs964271685 CA40337925 |
829 | I>T | No |
ClinGen gnomAD |
|
|
CA345446214 rs1208507512 |
829 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA345446241 rs1187153728 |
830 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs765105783 CA1480576 |
832 | A>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 832 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs978498153 CA40337964 |
835 | V>A | No |
ClinGen TOPMed |
|
|
rs779016615 CA1480588 |
837 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs143606032 CA1480589 |
838 | H>R | No |
ClinGen ESP TOPMed |
|
|
rs1221706234 CA345447570 |
839 | V>I | No |
ClinGen gnomAD |
|
|
rs147205610 CA1480591 |
840 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1349093974 CA345447616 |
842 | C>G | No |
ClinGen TOPMed |
|
|
rs566685686 CA40341663 |
842 | C>Y | No |
ClinGen 1000Genomes |
|
|
rs1323588160 CA345447634 |
843 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA345447667 rs1438344047 |
845 | S>G | No |
ClinGen gnomAD |
|
|
CA1480594 rs747906646 |
845 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769703429 CA1480595 |
850 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA345447750 rs1205538464 |
851 | P>S | No |
ClinGen gnomAD |
|
|
rs1304718166 CA345447770 |
852 | H>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 853 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763040167 CA1480597 |
854 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 854 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs974924182 CA40344647 |
858 | K>R | No |
ClinGen Ensembl |
|
|
CA345449106 rs1162178615 |
859 | Q>* | No |
ClinGen gnomAD |
|
|
rs764415019 CA1480623 |
864 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs141496101 COSM1340663 CA1480624 |
864 | R>H | large_intestine central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA345449219 rs764415019 |
864 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345449301 rs1435108437 |
869 | E>K | No |
ClinGen gnomAD |
|
|
CA345449318 rs1314601053 |
870 | I>V | No |
ClinGen gnomAD |
|
|
rs139005213 CA1480626 |
872 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA40344671 rs912781100 |
873 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 875 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1445886083 CA345449413 |
875 | Y>C | No |
ClinGen gnomAD |
|
|
rs758401219 CA1480628 |
876 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs780237006 CA1480629 |
878 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345449483 rs1298113682 |
879 | K>E | No |
ClinGen TOPMed |
|
|
CA345449501 rs1447916360 |
880 | Q>* | No |
ClinGen TOPMed |
|
|
CA345449512 rs977629561 |
880 | Q>H | No |
ClinGen TOPMed |
|
|
CA1480630 rs559749589 |
881 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA345449536 rs1378274027 |
882 | V>E | No |
ClinGen TOPMed |
|
|
rs777671797 CA1480632 |
883 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs749108824 CA1480633 |
884 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA1480634 rs770927104 |
885 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1558523614 CA345449571 |
885 | A>T | No |
ClinGen Ensembl |
|
|
rs1311423134 CA345449611 |
887 | I>V | No |
ClinGen Ensembl |
|
|
rs370383549 CA1480637 |
888 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370383549 CA1480636 COSM906484 |
888 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1480638 rs775109785 |
889 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 889 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA40344725 rs528793330 |
892 | R>K | No |
ClinGen 1000Genomes |
|
|
rs775604345 CA40348321 |
893 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775604345 CA1480655 |
893 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345451919 rs1233024293 |
894 | W>* | No |
ClinGen gnomAD |
|
|
rs1280597307 CA345451955 |
895 | H>Q | No |
ClinGen gnomAD |
|
|
CA1480656 rs370908434 |
896 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1480657 rs768226895 |
897 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1480658 rs776257828 |
897 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA1480659 rs181123989 |
898 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 899 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1005961068 CA40348332 |
899 | G>R | No |
ClinGen TOPMed |
|
|
CA345452091 rs1483943424 |
902 | C>G | No |
ClinGen TOPMed |
|
|
rs1276053476 CA345452155 |
904 | Y>C | No |
ClinGen TOPMed |
|
|
rs185043786 CA40348341 |
905 | F>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs185043786 CA40348354 |
905 | F>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs368932674 CA1480662 |
905 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs75121958 CA1480661 |
905 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs76158655 CA40348378 |
906 | G>* | No |
ClinGen Ensembl |
|
|
rs766931440 CA1480663 |
906 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA345452242 rs1157012072 |
907 | Q>E | No |
ClinGen gnomAD |
|
|
COSM906486 CA1480664 rs774228647 |
908 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1480666 rs143794967 |
908 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143794967 CA1480665 |
908 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1480667 rs752946951 |
909 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs756448429 CA1480668 |
910 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA345452351 rs1386538517 |
910 | L>P | No |
ClinGen gnomAD |
|
|
CA40348447 rs1002335984 |
911 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs764904636 CA1480669 |
914 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs547770809 CA1480670 |
916 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1034353346 CA40348470 |
916 | T>S | No |
ClinGen TOPMed |
|
|
CA1480671 rs375495995 |
918 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375495995 COSM906488 CA345452589 |
918 | D>Y | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA40348487 rs764259188 |
919 | F>Y | No |
ClinGen gnomAD |
|
|
CA1480672 rs780041961 |
921 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1480674 rs571013351 |
924 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1365816451 CA345452836 |
927 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1480676 rs747769344 |
929 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA345452931 rs1159898860 |
930 | I>M | No |
ClinGen TOPMed |
|
|
CA1480677 rs140669088 |
930 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345452942 rs1181275216 |
931 | E>K | No |
ClinGen gnomAD |
|
|
CA1480678 rs773400588 |
933 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs749668564 CA1480679 |
933 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1189764750 CA345453116 |
936 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1431443291 CA345453199 |
939 | T>I | No |
ClinGen gnomAD |
|
|
CA345453270 rs1168840669 |
941 | K>E | No |
ClinGen gnomAD |
|
|
CA1480684 rs199999233 |
944 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA345453438 rs1574097815 |
945 | E>A | No |
ClinGen Ensembl |
|
|
CA1480685 rs151121117 |
946 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA40348568 rs1038859318 |
947 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA345453646 rs1310038217 |
950 | F>S | No |
ClinGen gnomAD |
|
|
rs760928361 CA1480687 |
951 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs149173462 CA1480689 |
952 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149173462 COSM248332 CA40348599 |
952 | R>Q | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA1480688 VAR_043139 rs12074374 |
952 | R>W | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1480690 rs762103859 |
953 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1574099455 CA345454359 |
955 | W>* | No |
ClinGen Ensembl |
|
|
CA1480724 rs779369390 |
957 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345454520 rs1426232279 |
959 | S>N | No |
ClinGen gnomAD |
|
|
CA1480725 rs543932220 |
961 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1326186640 CA345454629 |
963 | L>P | No |
ClinGen gnomAD |
|
|
rs772636567 CA1480726 |
964 | L>F | No |
ClinGen ExAC |
|
|
rs1372825065 CA345454659 |
965 | F>L | No |
ClinGen gnomAD |
|
|
rs780706309 CA1480727 |
966 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1480728 rs747580705 |
967 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1480730 rs776616455 |
967 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA1480729 rs747580705 |
967 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1480731 rs371702842 |
968 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1415398851 CA345454783 |
969 | P>H | No |
ClinGen TOPMed |
|
|
rs769932591 CA1480732 |
969 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1480735 rs767357662 |
972 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs752608788 CA1480736 |
975 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1267234943 CA345454911 |
977 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA40350325 rs371866678 |
978 | D>G | No |
ClinGen Ensembl |
|
|
rs1389444645 CA345454959 |
980 | K>E | No |
ClinGen gnomAD |
|
|
CA1480738 rs763617238 |
980 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 981 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1480739 rs753308928 |
981 | F>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 982 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1490895662 CA345455036 |
985 | L>P | No |
ClinGen TOPMed |
|
|
CA1480741 rs756873305 |
987 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1480765 rs201917329 COSM1232636 |
991 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs200180061 COSM1179677 CA1480766 |
991 | R>Q | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 992 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1480767 rs79636668 |
993 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345457083 rs1230165997 |
994 | P>L | No |
ClinGen TOPMed |
|
|
rs1334367822 CA345457076 |
994 | P>S | No |
ClinGen TOPMed |
|
|
rs1334367822 CA345457071 |
994 | P>T | No |
ClinGen TOPMed |
|
|
CA345457155 rs1312286046 |
996 | E>K | No |
ClinGen gnomAD |
|
|
rs541438560 CA1480771 |
997 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1268383014 CA345457210 |
998 | F>S | No |
ClinGen TOPMed |
|
|
rs755456414 CA1480773 |
999 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755456414 CA345457255 |
999 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA345457285 rs1459549992 |
1000 | T>A | No |
ClinGen TOPMed |
|
|
CA1480774 rs564731951 |
1001 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 1004 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748756686 CA1480776 |
1007 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs777870685 CA1480778 |
1008 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1480779 rs749470958 |
1009 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376612822 CA40353234 |
1009 | F>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs775294576 CA345457601 |
1010 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775294576 CA1480781 |
1010 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746781290 CA345457644 |
1013 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA1480782 rs746781290 |
1013 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA1480783 rs201575951 |
1014 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336105317 CA345457659 |
1014 | I>V | No |
ClinGen gnomAD |
|
|
CA1480784 rs776416265 |
1015 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA345457733 rs1366262271 |
1016 | S>T | No |
ClinGen gnomAD |
|
|
CA40353908 rs1053767258 |
1019 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1574103079 CA345458008 |
1021 | T>P | No |
ClinGen Ensembl |
|
|
CA1480801 rs768318075 |
1021 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs781085379 CA1480802 |
1022 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1025 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs549316639 CA345458162 |
1027 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1480804 rs549316639 |
1027 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1480807 rs115851520 |
1029 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1480806 rs373067370 |
1029 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1477697758 CA345458256 |
1030 | G>D | No |
ClinGen gnomAD |
|
|
CA345458229 rs1244880257 |
1030 | G>S | No |
ClinGen gnomAD |
|
|
rs376612325 CA1480810 |
1031 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1480809 COSM1340665 rs139639842 |
1031 | V>I | large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1034 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1480811 rs753125774 |
1036 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1460340640 CA345458466 |
1037 | S>C | No |
ClinGen gnomAD |
|
|
CA1480812 rs761111510 |
1039 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1326020466 CA345458556 |
1041 | I>F | No |
ClinGen gnomAD |
|
|
rs1326020466 CA345458552 |
1041 | I>V | No |
ClinGen gnomAD |
|
|
CA345458674 rs1436313375 |
1044 | K>N | No |
ClinGen gnomAD |
|
|
rs982828649 CA40354018 |
1045 | K>M | No |
ClinGen Ensembl |
|
| rs757773237 | 1046 | K>missing | Variant assessed as Somatic; 9.241e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345458739 rs754406801 |
1046 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs899070310 CA40354028 |
1047 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs757312182 CA1480816 |
1051 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142269497 CA1480817 |
1052 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs185903348 COSM2157289 CA1480818 |
1052 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1052 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1419363031 CA345458900 |
1053 | E>* | No |
ClinGen gnomAD |
|
|
rs866946208 CA40357535 |
1055 | A>V | No |
ClinGen Ensembl |
|
|
CA345459314 rs1327473573 |
1056 | P>T | No |
ClinGen Ensembl |
|
|
CA1480842 rs141549635 |
1057 | R>* | No |
ClinGen ESP ExAC TOPMed |
|
|
rs755961052 CA1480843 |
1057 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA1480844 rs755961052 |
1057 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1480846 rs202158837 |
1060 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345459364 rs1397305660 |
1063 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA345459358 rs1190607260 |
1063 | K>Q | No |
ClinGen TOPMed |
|
| rs1402216161 | 1064 | N>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1331740582 CA345459378 |
1065 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
CA345459377 rs1331740582 |
1065 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1558530493 CA345459375 |
1065 | L>V | No |
ClinGen Ensembl |
|
|
CA1480848 rs151295225 |
1066 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1068 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746709056 CA1480851 |
1072 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs768975083 CA1480853 |
1073 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA1480852 rs768975083 |
1073 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1480854 rs762181712 |
1077 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs765789480 CA1480855 |
1078 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139429197 CA40357611 |
1079 | I>M | No |
ClinGen 1000Genomes gnomAD |
|
|
CA1480856 rs773099845 |
1079 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs182461546 CA1480858 |
1080 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758047831 CA1480857 |
1080 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs758047831 CA345459466 |
1080 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs199552406 CA1480860 |
1082 | K>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
No associated diseases with B1ANS9
8 regional properties for B1ANS9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | WD40 repeat | 151 - 190 | IPR001680-1 |
| repeat | WD40 repeat | 313 - 351 | IPR001680-2 |
| repeat | WD40 repeat | 355 - 403 | IPR001680-3 |
| repeat | WD40 repeat | 447 - 483 | IPR001680-4 |
| repeat | WD40 repeat | 487 - 537 | IPR001680-5 |
| repeat | WD40 repeat | 638 - 675 | IPR001680-6 |
| repeat | WD40 repeat | 762 - 798 | IPR001680-7 |
| repeat | WD40 repeat | 856 - 895 | IPR001680-8 |
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 |
| MDIRKEKRLN | MALQMSNFKK | ALNRFEKLVE | QTAAQKRDER | AGLFIHKEDA | IGYDKFYASV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QKLFGPDVKN | QDVKRFYRKL | CNNTDASADW | CEIFGYFSSE | EDPIASQLDE | ENLVFFVSRK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RRILISGSRR | RDVIKSIVKI | PHLDLLITAT | QKGLITVFNN | QDTSWITGCD | YLLQLKRIVA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TTERTIIVWD | YKAQGSSQEN | YFVIKPMDHC | LLCVCVVPLP | DHLCRDDILL | GDDGGFVNRF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TVNSDDFGIK | QAKSKRKLQN | QVLDSKNFKS | VKRKLHNDWV | MKIRYISALN | CFGSCSLDSN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| HSLVLESLKR | LEDNLPVREF | SMPRGANTFC | YCVKANVIVT | GGDDKVIRLW | HPNISTKPVG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KLVGHMFSIA | EIVTNEKDQH | VVSLSSAKVF | RVWDIQTLSL | LQVFHDSQGG | PGDMQIYSMI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| YDANHGMLIT | GSSVMDMYPL | TRMIQDTKQV | PHTHEREINV | MLYNKYFHQV | LTICSESIIR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VWELETGLQV | YQILEPHGFN | TEVTSAAVDE | SGFLFATGAY | NGTVRIWDFG | SGQEMKVLPE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GKDWKEDEHC | LRRLIFLKAQ | EKHQQLVLAL | ERNGTIKMIQ | GKEDDIYLMV | IWELPDVVPF |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LQDGKHAVHL | RMSTRDRNMA | IPFPDVELIV | ERNFSQPTDN | PTMDLLRVNC | IDLLQVEGYN |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LIAAGTLNGV | IILWNFVTST | VKKVYRPEDC | FTVNPDLHPK | HFKINDILFL | FRTPECARRS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SQDSICSSSQ | CESSKGPQSS | KGSKQSIHDS | EVKGEQTDVM | VGKQQPMDKK | HPGIANLPEA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| QPPILVTAHE | DGHLRLWTLE | GRLLKDMLPF | TKHSAISLTS | LYTDSCTRIL | LAGNVEGHVI |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LCNISSFLDP | PHDEKKFKQL | LSWRAHSLEI | IQVIYVEEKQ | VVLTASIDGS | VRLWHALNGH |
| 910 | 920 | 930 | 940 | 950 | 960 |
| YCGYFGQRRL | FELSQTRDFI | LPCDVTEYPI | EIKEESKFTE | KQKYEYPLIF | DREKWRKMSS |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| VSLLFKRTPP | KAFEVEQDFK | FFKSLSSPKI | RRYPLEGFVT | ENREAGIVFG | SLPIYSISSP |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| TSLRFLPLIG | VEAQKDSSDG | ITGKKKGGHV | QREKAPRRRS | LKKNLVPQIN | LASSFFPAIP |
| K |