Q8N4M1
PR
Gene name |
SLC44A3 (CTL3, UNQ558/PRO1115) |
Protein name |
Choline transporter-like protein 3 |
Names |
Solute carrier family 44 member 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:126969 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8N4M1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8N4M1-F1 | Predicted | AlphaFoldDB |
517 variants for Q8N4M1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA341307697 rs1467728727 |
4 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA26912385 rs1008259830 |
5 | G>C | No |
ClinGen Ensembl |
|
|
rs1020005019 CA26912388 |
6 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA341307741 rs1171792548 |
10 | V>I | No |
ClinGen TOPMed |
|
|
CA960879 rs200690456 |
14 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341307770 rs200690456 |
14 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1474899013 CA341307777 |
15 | A>D | No |
ClinGen gnomAD |
|
|
rs1474899013 CA341307776 |
15 | A>G | No |
ClinGen gnomAD |
|
|
CA341307775 rs1474899013 |
15 | A>V | No |
ClinGen gnomAD |
|
|
CA341307783 rs1160010875 |
16 | P>R | No |
ClinGen gnomAD |
|
|
CA341307801 rs1451979921 |
19 | R>K | No |
ClinGen gnomAD |
|
|
rs1390499485 CA341307804 |
19 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs571452756 CA26912627 |
20 | E>K | No |
ClinGen 1000Genomes |
|
|
rs1158320235 CA341307823 |
22 | R>* | No |
ClinGen gnomAD |
|
|
rs1403414803 CA341307826 |
22 | R>P | No |
ClinGen gnomAD |
|
| TCGA novel | 23 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341307827 rs1571125163 |
23 | P>T | No |
ClinGen Ensembl |
|
|
CA341307835 rs1311546134 |
24 | Q>* | No |
ClinGen gnomAD |
|
|
rs1571125218 CA341307837 |
24 | Q>P | No |
ClinGen Ensembl |
|
|
CA341307838 rs1571125218 |
24 | Q>R | No |
ClinGen Ensembl |
|
|
rs747591417 CA26912634 |
26 | Y>F | No |
ClinGen gnomAD |
|
|
rs1571125331 CA341307873 |
29 | C>Y | No |
ClinGen Ensembl |
|
|
CA26912638 rs1034524626 |
30 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs922426624 CA26912639 |
31 | D>V | No |
ClinGen TOPMed |
|
|
CA26912641 rs534530995 |
32 | T>A | No |
ClinGen Ensembl |
|
|
CA341307896 rs1333620118 |
33 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1256350313 CA341307907 |
34 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA341307908 rs1256350313 |
34 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA341307911 rs953778972 |
35 | L>V | No |
ClinGen TOPMed |
|
|
rs985192903 CA26912649 |
36 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 38 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1289818389 CA341308200 |
46 | V>M | No |
ClinGen TOPMed |
|
|
rs922424519 CA26913874 |
50 | G>C | No |
ClinGen Ensembl |
|
|
rs1460984950 CA341308235 |
50 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA341308239 rs1392417439 |
51 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA960898 rs145608976 |
51 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1438346517 CA341308245 |
52 | S>A | No |
ClinGen gnomAD |
|
|
CA960899 rs758698244 |
52 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1438346517 CA341308244 |
52 | S>P | No |
ClinGen gnomAD |
|
|
CA341308248 rs1553194513 |
53 | V>M | No |
ClinGen Ensembl |
|
|
rs1364633107 CA341308258 |
54 | V>A | No |
ClinGen TOPMed |
|
|
rs778208592 CA960900 |
55 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs747073889 CA960901 |
56 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1306855664 CA341308274 |
57 | A>G | No |
ClinGen gnomAD |
|
|
CA960905 rs746420514 |
58 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341308276 rs188539443 |
58 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA960903 rs188539443 |
58 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA960904 rs746420514 |
58 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341308282 rs763371251 |
59 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA960907 rs763371251 |
59 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 60 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA960908 rs763719798 |
60 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA26913902 rs868661782 |
61 | L>F | No |
ClinGen Ensembl |
|
|
rs1188662753 CA341308313 |
64 | G>D | No |
ClinGen gnomAD |
|
|
CA341308312 rs1188662753 |
64 | G>V | No |
ClinGen gnomAD |
|
|
rs774037852 CA960909 |
67 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs148935541 CA960910 |
69 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756090190 CA960913 |
71 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA341308369 rs1163708781 |
72 | C>R | No |
ClinGen gnomAD |
|
| TCGA novel | 73 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341308377 rs1282452812 |
73 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs766211094 CA960915 |
76 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1361176299 CA341308409 |
77 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA341308408 rs1361176299 |
77 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1286957074 CA341308405 |
77 | S>P | No |
ClinGen gnomAD |
|
|
rs1557796354 CA341308414 |
78 | P>L | No |
ClinGen Ensembl |
|
|
rs192766621 CA26913952 |
79 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA960922 rs192766621 |
79 | V>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA960920 rs757246523 |
79 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757246523 CA960921 |
79 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 81 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA960925 rs373535073 |
82 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA960926 rs373535073 |
82 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA960927 rs773951394 |
85 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1260263223 CA341308473 |
88 | D>E | No |
ClinGen gnomAD |
|
|
CA341308467 rs1182898607 |
88 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs771425075 CA960929 |
89 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs761547638 CA960928 |
89 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA341308486 rs1294212003 |
90 | T>I | No |
ClinGen gnomAD |
|
|
CA960930 rs772782515 |
90 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341308493 rs1372139452 |
92 | K>E | No |
ClinGen TOPMed |
|
|
CA341308505 rs1557796745 |
93 | K>I | No |
ClinGen Ensembl |
|
| rs748117099 | 93 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341308643 rs759571114 |
94 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143647362 CA960954 |
95 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 102 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA960955 rs752545212 |
103 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 105 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA960956 rs144779672 |
105 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA960957 rs767753193 |
107 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA960958 rs547531721 |
108 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA960959 rs547531721 |
108 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754277971 COSM1667719 COSM1667720 CA960961 |
109 | Q>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs779346651 CA960963 |
112 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779346651 CA960964 |
112 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM247402 COSM247401 rs536412204 CA960965 |
112 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs777458815 CA960966 |
113 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA960969 rs201620365 |
116 | C>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA26915132 rs1019922516 |
119 | N>S | No |
ClinGen gnomAD |
|
|
rs745738225 CA960971 |
120 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775333672 CA960973 |
123 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA341309022 rs1159017727 |
123 | E>Q | No |
ClinGen TOPMed |
|
|
rs757756675 CA26915149 |
124 | Q>* | No |
ClinGen gnomAD |
|
|
rs757756675 CA341309034 |
124 | Q>K | No |
ClinGen gnomAD |
|
|
rs967540189 COSM270176 COSM270175 CA26915153 |
124 | Q>R | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1470556610 CA341309058 |
125 | L>P | No |
ClinGen TOPMed |
|
|
rs1186101297 CA341309090 |
129 | E>A | No |
ClinGen TOPMed |
|
|
CA960975 rs763821165 |
130 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA960976 rs773446033 |
131 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA26915157 rs985064918 |
136 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA960978 rs766389935 |
138 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764458954 CA961003 |
139 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs751955532 CA961004 |
143 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196464001 CA341309192 |
143 | C>Y | No |
ClinGen gnomAD |
|
|
CA961006 rs780974110 |
144 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs757758535 CA961005 |
144 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA961007 rs750125599 |
145 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396114075 CA341309212 |
146 | S>N | No |
ClinGen gnomAD |
|
|
CA341309235 rs1279959316 |
149 | S>C | No |
ClinGen TOPMed |
|
|
CA26915633 rs918586202 |
150 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA961009 rs2640065 |
152 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341309262 rs1172271509 |
153 | T>N | No |
ClinGen gnomAD |
|
|
rs1571169768 CA341309259 |
153 | T>P | No |
ClinGen Ensembl |
|
|
rs749192614 CA961010 |
155 | S>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1688084 rs986662069 CA26915644 COSM1688083 |
158 | A>T | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA26915645 rs1054133355 |
159 | D>E | No |
ClinGen Ensembl |
|
|
CA961011 rs768465394 |
160 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1470984205 CA341309330 |
163 | P>H | No |
ClinGen gnomAD |
|
|
CA961012 rs147302745 |
163 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373005954 CA961017 |
168 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373005954 CA26915657 |
168 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1302507649 CA341309367 |
170 | S>G | No |
ClinGen gnomAD |
|
|
CA341304821 rs1462891075 |
171 | K>* | No |
ClinGen TOPMed |
|
|
CA341304830 rs1392983802 |
172 | S>A | No |
ClinGen TOPMed |
|
|
rs1212209451 CA341304847 |
174 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA341304866 rs1486467491 |
177 | N>I | No |
ClinGen gnomAD |
|
|
rs777547713 COSM913516 COSM913515 CA961036 |
178 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA961037 COSM913518 rs140889980 COSM913517 |
178 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs775844413 CA961039 |
181 | P>L | No |
ClinGen ExAC |
|
|
rs1419560518 CA341304914 |
185 | E>Q | No |
ClinGen gnomAD |
|
|
CA961040 rs376439902 |
186 | C>Y | No |
ClinGen ESP ExAC TOPMed |
|
|
rs370657082 CA26898670 |
189 | L>V | No |
ClinGen ESP TOPMed |
|
|
CA341304954 rs1459580739 |
191 | A>T | No |
ClinGen gnomAD |
|
|
rs1163774801 CA341304958 |
191 | A>V | No |
ClinGen gnomAD |
|
|
rs1052113751 CA26898689 |
194 | L>M | No |
ClinGen Ensembl |
|
|
CA341304974 rs1455180758 |
194 | L>S | No |
ClinGen gnomAD |
|
|
rs151282692 CA341304997 |
197 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 197 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs151282692 CA961042 |
197 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 197 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs946522443 CA26898704 |
199 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1297042228 CA740527851 |
200 | T>* | No |
ClinGen Ensembl |
|
|
CA961043 rs762417133 |
200 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA961044 rs767937067 |
202 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs200195622 CA961045 |
203 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA341305031 rs200195622 |
203 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367937576 CA961046 |
203 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA341305047 rs1348915747 |
206 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA341305046 rs1348915747 |
206 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA341305054 CA961047 rs551940389 |
207 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA961048 rs753576151 |
209 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754395637 CA26898729 |
210 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA961049 rs754395637 |
210 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 211 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752562000 CA961051 |
212 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259059811 CA341305091 |
213 | D>N | No |
ClinGen gnomAD |
|
|
rs111998195 CA961053 |
214 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA341305105 rs1231971483 |
215 | I>V | No |
ClinGen TOPMed |
|
|
rs374306426 CA961056 |
216 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1156736617 CA341305118 |
217 | G>D | No |
ClinGen gnomAD |
|
|
CA26898791 rs890459558 |
218 | L>P | No |
ClinGen Ensembl |
|
|
CA961058 rs377198581 |
220 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761828452 CA26898830 |
221 | L>F | No |
ClinGen gnomAD |
|
|
rs761828452 CA341305139 |
221 | L>I | No |
ClinGen gnomAD |
|
|
CA961059 rs774589657 |
221 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA961061 rs559612480 |
222 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773809850 CA961062 |
223 | L>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs147324255 CA961082 |
224 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs958179214 CA26900128 |
225 | L>* | No |
ClinGen gnomAD |
|
| TCGA novel | 226 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308871958 CA341305659 |
228 | A>T | No |
ClinGen gnomAD |
|
|
rs985932121 CA341305684 CA26900134 |
229 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1284166290 CA341305764 |
235 | F>L | No |
ClinGen TOPMed |
|
|
CA341305772 rs1409374773 |
236 | I>N | No |
ClinGen TOPMed |
|
| TCGA novel | 236 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341305817 rs777065594 |
239 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA961083 rs777065594 |
239 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs759948644 CA961084 |
240 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA341305837 rs1251053265 |
241 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA341305865 rs1172043772 |
243 | I>V | No |
ClinGen gnomAD |
|
|
CA961087 rs762424405 |
245 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA961089 rs148885889 |
249 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341305931 rs989406433 |
252 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs989406433 CA26900155 |
252 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
CA961091 rs540740546 |
253 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355666397 CA341305962 |
255 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 257 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746392350 CA961120 |
257 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA961121 rs770081467 |
260 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571234489 CA341306019 |
263 | Y>* | No |
ClinGen Ensembl |
|
|
CA961122 rs780413694 |
263 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780413694 CA961123 |
263 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341306035 rs1487305098 |
265 | D>E | No |
ClinGen gnomAD |
|
|
rs768352672 CA961124 |
266 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1239026535 CA341306047 |
267 | T>S | No |
ClinGen TOPMed |
|
|
rs773917499 CA961125 |
267 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341306055 rs113509894 CA26901477 |
268 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199881016 CA961127 |
269 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1446891899 CA341306078 |
272 | I>V | No |
ClinGen TOPMed |
|
|
rs1404647039 CA341306086 |
273 | E>Q | No |
ClinGen TOPMed |
|
|
CA341306089 rs1426833541 |
273 | E>V | No |
ClinGen gnomAD |
|
|
rs1366942800 CA341306105 |
275 | D>E | No |
ClinGen gnomAD |
|
|
CA341306108 rs1472642177 |
276 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA341306107 rs1472642177 |
276 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA961128 rs773246019 |
277 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1030191969 CA26901490 |
278 | R>S | No |
ClinGen gnomAD |
|
|
CA961129 rs118089857 |
281 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA961130 rs764667211 |
283 | C>* | No |
ClinGen ExAC TOPMed |
|
|
CA961133 rs139808239 |
283 | C>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA961131 rs766219373 |
283 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA961134 CA961135 rs764342737 |
284 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA961136 rs764342737 |
284 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746023481 CA26901510 |
285 | L>P | No |
ClinGen TOPMed |
|
|
CA341306172 rs1365284462 |
286 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs148020782 CA961139 |
286 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA961140 rs148020782 |
286 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368465746 CA961141 |
289 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM175004 CA961143 rs186467911 |
290 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA341306195 rs186467911 |
290 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA961144 rs747788194 |
292 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs771542303 CA961145 |
292 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA341306216 rs1486002356 |
294 | I>L | No |
ClinGen gnomAD |
|
| rs144117916 | 295 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA961146 rs538944755 |
295 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA961147 rs190859111 |
295 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1169221919 CA341306242 |
296 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1571250196 CA341306247 |
297 | V>E | No |
ClinGen Ensembl |
|
|
CA961169 rs556041690 |
297 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA961170 rs375504087 |
299 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA26903132 rs375504087 |
299 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148534623 CA961173 |
300 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148534623 CA961172 |
300 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1126914 rs1028683054 COSM1126913 CA26903139 |
301 | L>F | Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA341306266 rs1385060807 |
301 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA341306274 rs1300539422 |
302 | I>T | No |
ClinGen gnomAD |
|
|
rs773475294 CA961174 |
304 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 307 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA26903156 rs374429080 |
308 | R>G | No |
ClinGen ESP TOPMed |
|
|
CA26903160 rs1026309700 |
311 | L>W | No |
ClinGen Ensembl |
|
|
CA341306346 rs759972668 |
313 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA961179 rs759972668 |
313 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA341306345 rs1197859784 |
313 | V>I | No |
ClinGen TOPMed |
|
|
rs1571250643 CA341306348 |
314 | E>K | No |
ClinGen Ensembl |
|
|
CA961180 rs138264251 |
315 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1208535522 CA341306373 |
317 | Q>R | No |
ClinGen gnomAD |
|
|
rs753000195 CA961181 |
318 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA961182 rs758873794 |
320 | N>D | No |
ClinGen ExAC |
|
|
rs1428533228 CA341306417 |
323 | I>M | No |
ClinGen gnomAD |
|
|
rs952016199 CA26903169 |
324 | S>G | No |
ClinGen Ensembl |
|
|
rs777541413 CA961183 |
324 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs751274897 CA961184 |
325 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA26903187 rs755540354 |
327 | P>L | No |
ClinGen Ensembl |
|
|
CA961185 rs756785788 |
327 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1274882677 CA341306442 |
328 | F>L | No |
ClinGen TOPMed |
|
|
CA961189 rs780084050 |
331 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA961190 rs749063887 |
332 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs959820430 CA26903226 |
332 | Q>H | No |
ClinGen gnomAD |
|
|
CA341306481 rs1382120896 |
334 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA341306503 rs1454124591 |
337 | F>L | No |
ClinGen gnomAD |
|
|
CA961192 rs374380509 |
337 | F>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA961193 rs760894641 |
338 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1354567253 CA341306516 |
339 | I>M | No |
ClinGen TOPMed |
|
|
CA341306548 rs1433054958 |
344 | W>* | No |
ClinGen TOPMed |
|
|
CA341306552 rs1323811055 |
344 | W>C | No |
ClinGen gnomAD |
|
|
CA961196 rs759726180 |
344 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA341306554 rs1243088126 |
345 | V>F | No |
ClinGen gnomAD |
|
|
CA26903249 rs918059749 |
351 | L>R | No |
ClinGen gnomAD |
|
|
rs763356572 CA961199 |
355 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA961200 rs764579420 |
357 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 358 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA961220 rs767058648 |
359 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA961221 rs750115977 |
360 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs184943086 CA961222 |
361 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 361 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 362 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA961223 rs143570687 |
362 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341306674 rs1234382908 |
363 | M>T | No |
ClinGen gnomAD |
|
|
CA961224 rs753719019 |
363 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs938758367 CA26909985 |
365 | G>S | No |
ClinGen TOPMed |
|
|
CA961227 rs750325501 |
366 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA961228 rs758262277 |
366 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA26909993 rs915880372 |
369 | E>V | No |
ClinGen TOPMed |
|
|
rs781222341 CA961229 |
371 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 371 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1237460553 CA341306734 |
372 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs746129918 CA961230 |
372 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA961232 rs146768701 |
374 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146768701 CA961231 |
374 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs867023534 CA26910011 |
375 | G>D | No |
ClinGen Ensembl |
|
|
CA961235 rs775049702 |
377 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA961234 rs142721068 |
377 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1401325896 CA341306775 |
379 | M>I | No |
ClinGen gnomAD |
|
|
CA26910032 rs924184268 |
379 | M>V | No |
ClinGen Ensembl |
|
|
CA961238 rs751229031 |
380 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs146927866 CA961239 |
381 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1437738952 CA341306795 |
382 | Y>S | No |
ClinGen gnomAD |
|
|
CA341306800 rs1277126404 |
383 | H>N | No |
ClinGen gnomAD |
|
|
rs1364829541 CA341306816 |
385 | I>V | No |
ClinGen gnomAD |
|
|
CA341306823 rs1377540978 |
386 | G>R | No |
ClinGen TOPMed |
|
|
CA341306828 rs1278415106 |
387 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA341306836 rs1157429009 |
388 | I>F | No |
ClinGen TOPMed |
|
|
CA26910065 rs367997467 |
391 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
rs754521478 CA961243 |
391 | S>N | No |
ClinGen ExAC |
|
|
CA26910069 rs749694380 |
392 | E>G | No |
ClinGen Ensembl |
|
|
rs370929269 CA961244 |
393 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1380552614 CA341306876 |
394 | I>L | No |
ClinGen TOPMed |
|
|
rs1468759365 CA341306887 |
395 | L>P | No |
ClinGen gnomAD |
|
|
CA961246 rs148388726 |
396 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA961245 rs148388726 |
396 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs769264962 CA26910090 |
399 | Q>* | No |
ClinGen Ensembl |
|
|
rs1477051902 CA341306922 |
400 | M>I | No |
ClinGen gnomAD |
|
|
rs1190729917 CA341306926 |
401 | T>S | No |
ClinGen gnomAD |
|
|
CA26910091 rs1017719838 |
402 | I>T | No |
ClinGen TOPMed |
|
|
CA341306932 rs1478959788 |
402 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA341306942 rs1168816769 |
403 | A>G | No |
ClinGen gnomAD |
|
|
rs756344720 CA961249 |
404 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1406351603 CA341306948 |
405 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA961251 rs780466998 |
406 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA961250 rs780466998 |
406 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs768882937 CA961252 |
408 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA26910119 rs866116747 |
409 | C>W | No |
ClinGen Ensembl |
|
|
rs779526111 CA961254 |
413 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs962674570 CA26913316 |
414 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA961283 rs759190024 |
415 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA341307130 rs1185009248 |
415 | K>R | No |
ClinGen TOPMed |
|
|
CA341307138 rs1472909644 |
416 | N>S | No |
ClinGen TOPMed |
|
|
CA961284 rs769232801 |
417 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA341307154 rs1241200070 |
418 | P>L | No |
ClinGen TOPMed |
|
|
CA961286 rs762434986 |
419 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1382721720 CA341307188 |
423 | I>M | No |
ClinGen gnomAD |
|
|
CA341307182 rs1180546914 |
423 | I>V | No |
ClinGen gnomAD |
|
|
rs764073632 CA961287 |
424 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs756007310 COSM1226370 COSM1226371 CA961288 |
425 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs376411712 CA961291 |
427 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341307241 rs1339612902 |
432 | F>S | No |
ClinGen gnomAD |
|
|
rs755239083 CA961293 |
433 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447276837 CA341307246 |
433 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs140072535 CA341307256 |
434 | H>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA961294 rs140072535 |
434 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341307260 rs1228718947 |
435 | Q>E | No |
ClinGen TOPMed |
|
|
rs1238053135 CA341307263 |
435 | Q>R | No |
ClinGen gnomAD |
|
|
rs1345822337 CA341307272 |
436 | G>V | No |
ClinGen gnomAD |
|
|
COSM1492144 rs758454596 CA961296 COSM1492145 |
437 | T>I | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA961298 rs142658362 |
438 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_023405 CA961297 rs859098 |
438 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA26913392 rs377582841 |
439 | V>G | No |
ClinGen ESP |
|
|
rs1240532639 CA341307282 |
439 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA341307296 rs1557860214 |
441 | G>R | No |
ClinGen Ensembl |
|
|
rs781545606 CA961300 |
441 | G>V | No |
ClinGen ExAC gnomAD |
|
| VAR_064752 | 441 | G>W | found in a renal cell carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA341307300 rs1571349651 |
442 | S>T | No |
ClinGen Ensembl |
|
| TCGA novel | 443 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1478744576 CA341307326 |
445 | I>M | No |
ClinGen gnomAD |
|
|
rs939404251 CA26913405 |
445 | I>V | No |
ClinGen gnomAD |
|
|
rs769429169 CA961302 |
447 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA961304 rs368373395 |
451 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368373395 CA961305 |
451 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 452 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1476072742 CA341307377 |
454 | I>V | No |
ClinGen TOPMed |
|
|
rs201239079 CA961307 |
456 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341307390 rs1263316579 |
456 | M>V | No |
ClinGen TOPMed |
|
|
rs767621580 CA961308 |
457 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA961309 rs773137920 |
458 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1301899562 CA341307405 |
458 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA26913437 rs113258191 |
459 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA961310 rs760587498 |
459 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA341307426 rs1199655018 |
461 | A>T | No |
ClinGen gnomAD |
|
|
rs900082366 CA26913456 |
465 | Q>* | No |
ClinGen gnomAD |
|
|
rs900082366 CA341307454 |
465 | Q>E | No |
ClinGen gnomAD |
|
|
rs1195343412 CA341307474 |
466 | Q>R | No |
ClinGen gnomAD |
|
|
CA961330 rs775713514 |
467 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs763097709 CA961331 |
467 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778238643 CA26914490 |
469 | A>V | No |
ClinGen Ensembl |
|
|
rs751631368 CA961333 |
470 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA341307506 rs1162861214 |
471 | S>C | No |
ClinGen gnomAD |
|
|
rs761918848 CA961335 |
472 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs181145758 CA961336 |
472 | R>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756437074 CA961338 |
475 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs750962141 CA961337 |
475 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA961339 rs372064137 |
476 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142020864 CA961340 COSM3419605 COSM3419606 |
476 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs754583417 CA961341 |
477 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341307553 rs1243167036 |
479 | Y>S | No |
ClinGen gnomAD |
|
|
rs902887564 CA26914538 |
481 | C>Y | No |
ClinGen gnomAD |
|
|
rs999862608 CA26914539 |
485 | L>H | No |
ClinGen Ensembl |
|
|
rs1032765121 CA26914543 |
486 | D>E | No |
ClinGen TOPMed |
|
|
rs910780535 CA26914541 |
486 | D>N | No |
ClinGen TOPMed |
|
|
CA341307610 rs1291729810 |
487 | K>E | No |
ClinGen gnomAD |
|
|
CA341307629 rs1353737389 |
489 | L>R | No |
ClinGen gnomAD |
|
|
CA961342 rs778750012 |
490 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 492 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341307663 rs1182215290 |
494 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1485377545 CA341307657 |
494 | Q>K | No |
ClinGen gnomAD |
|
|
CA961369 rs781229109 |
495 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA961371 rs534918251 |
498 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA961372 rs774492023 |
499 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs751118300 CA26921577 |
500 | T>I | No |
ClinGen gnomAD |
|
|
CA341309426 rs751118300 |
500 | T>N | No |
ClinGen gnomAD |
|
|
CA341309449 rs1405338892 |
502 | I>T | No |
ClinGen gnomAD |
|
|
CA341309461 rs1198111029 |
503 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 504 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1219358647 CA341309491 |
506 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA341309521 rs1228543984 |
508 | C>G | No |
ClinGen TOPMed |
|
| TCGA novel | 509 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772338473 CA961374 |
512 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA341309595 rs1571488815 |
514 | A>T | No |
ClinGen Ensembl |
|
|
rs575071849 CA961375 |
515 | F>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs575071849 CA26921583 |
515 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 516 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA961376 rs200061627 |
516 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs111731976 CA26921587 |
517 | I>T | No |
ClinGen Ensembl |
|
|
CA961377 rs766777553 |
518 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA961378 rs777220723 |
519 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 520 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1480336517 CA341309667 |
520 | K>R | No |
ClinGen gnomAD |
|
|
rs957493658 CA26921592 |
521 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1427518473 CA341309693 |
522 | S>L | No |
ClinGen gnomAD |
|
|
CA26921594 rs112261530 |
522 | S>P | No |
ClinGen Ensembl |
|
|
CA961380 rs765698782 |
523 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs765698782 CA341309696 |
523 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA341309750 rs1424698891 |
527 | S>F | No |
ClinGen gnomAD |
|
|
CA341309746 rs1175992373 |
527 | S>P | No |
ClinGen gnomAD |
|
|
CA961381 rs752335868 |
530 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA341309795 rs1571489225 |
531 | F>L | No |
ClinGen Ensembl |
|
|
CA26921603 rs111294507 |
533 | D>G | No |
ClinGen gnomAD |
|
|
CA341309860 rs1465354590 |
536 | I>N | No |
ClinGen TOPMed |
|
|
CA961384 rs149434797 |
536 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341309900 rs1343111812 |
540 | K>Q | No |
ClinGen gnomAD |
|
|
rs763814941 CA961404 |
542 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187650624 CA341310347 |
543 | V>M | No |
ClinGen gnomAD |
|
|
rs756680192 CA961406 |
545 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs115958260 CA961405 |
545 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 547 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 547 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA961407 rs200876036 |
548 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 551 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1571494205 CA341310398 |
551 | G>R | No |
ClinGen Ensembl |
|
|
CA341310415 rs1571494289 |
553 | M>I | No |
ClinGen Ensembl |
|
|
rs1047687359 CA26921837 |
553 | M>T | No |
ClinGen Ensembl |
|
|
rs756041627 CA961409 |
553 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780008123 CA961410 |
554 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA961411 rs138868689 |
555 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs754793544 CA961412 |
556 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA961413 rs777822049 |
557 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770856638 CA961415 |
559 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747262804 CA961414 |
559 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770389711 CA961418 |
564 | W>* | No |
ClinGen ExAC |
|
|
CA26921854 rs760001834 |
565 | A>T | No |
ClinGen gnomAD |
|
|
CA341310506 rs1557898799 |
567 | P>L | No |
ClinGen Ensembl |
|
|
CA26921860 rs986268940 |
570 | L>S | No |
ClinGen TOPMed |
|
|
CA26921866 rs910240955 |
572 | A>G | No |
ClinGen TOPMed |
|
| rs752543591 | 574 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 576 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341310571 rs1362049639 |
577 | L>F | No |
ClinGen gnomAD |
|
|
rs1442474161 CA341310577 |
578 | V>A | No |
ClinGen TOPMed |
|
|
CA961424 rs139240340 |
579 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773819577 CA961425 |
580 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA961426 rs761514787 |
580 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs201552836 CA961427 |
581 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs760230779 CA961431 |
584 | S>Y | No |
ClinGen ExAC |
|
|
rs1382033051 CA341310628 |
586 | F>C | No |
ClinGen gnomAD |
|
| TCGA novel | 586 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341310641 rs1245325589 |
588 | T>A | No |
ClinGen gnomAD |
|
|
rs1352941856 CA341310650 |
589 | V>G | No |
ClinGen gnomAD |
|
|
rs753807031 CA961433 |
590 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA961434 rs201394756 |
591 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1443330138 CA341310669 |
593 | L>V | No |
ClinGen gnomAD |
|
|
CA341310679 rs1228083064 |
594 | F>C | No |
ClinGen gnomAD |
|
| TCGA novel | 594 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA26921894 rs199682894 |
595 | L>P | No |
ClinGen 1000Genomes |
|
|
rs1206012176 CA341310687 |
596 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA26921896 rs946262813 |
597 | F>S | No |
ClinGen TOPMed |
|
|
rs1288123500 CA341310722 |
601 | L>V | No |
ClinGen gnomAD |
|
|
CA26921900 rs1014276259 |
602 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 602 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs753844278 | 603 | T>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA961437 rs752489476 |
605 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA341310754 rs1179824400 |
606 | G>R | No |
ClinGen gnomAD |
|
|
COSM1345031 CA961438 COSM1345032 rs34381000 |
607 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP NCI-TCGA TOPMed gnomAD |
|
rs1253398555 CA341310786 |
610 | K>N | No |
ClinGen TOPMed |
|
|
rs781304905 CA961441 |
612 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA961442 rs745920106 |
614 | M>L | No |
ClinGen ExAC TOPMed |
|
|
rs907351983 CA26921914 |
614 | M>T | No |
ClinGen TOPMed |
|
|
CA341310825 rs1157579281 |
616 | Q>* | No |
ClinGen gnomAD |
|
|
rs1157579281 CA341310824 |
616 | Q>E | No |
ClinGen gnomAD |
|
|
CA341310828 rs1464048826 |
616 | Q>R | No |
ClinGen gnomAD |
|
|
rs1186192411 CA341310835 |
617 | E>G | No |
ClinGen gnomAD |
|
|
rs772845293 CA961463 |
622 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs893060554 CA26922482 |
625 | S>N | No |
ClinGen Ensembl |
|
|
CA341310931 rs1195750950 |
629 | N>D | No |
ClinGen gnomAD |
|
|
rs1267475587 CA341310949 |
631 | A>E | No |
ClinGen TOPMed |
|
|
CA341310997 rs1206589835 |
638 | H>N | No |
ClinGen TOPMed |
|
|
rs1331026131 CA341311000 |
638 | H>P | No |
ClinGen TOPMed |
|
|
rs1331026131 CA341311001 |
638 | H>R | No |
ClinGen TOPMed |
|
|
CA961467 rs755480686 |
641 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172351215 CA341311037 |
643 | E>D | No |
ClinGen gnomAD |
|
|
rs779338508 CA961468 |
643 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs748500870 CA961469 |
644 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1163776968 CA341311057 |
646 | T>I | No |
ClinGen gnomAD |
|
|
rs772787067 CA961471 |
647 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs970611939 CA26922495 |
649 | Q>H | No |
ClinGen Ensembl |
|
|
rs1301497428 CA341311078 |
650 | A>T | No |
ClinGen gnomAD |
|
|
COSM913530 rs746680544 COSM913529 CA961472 |
650 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA961473 rs199963454 |
651 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 651 | I>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776111628 CA961474 |
651 | I>T | Variant assessed as Somatic; 4.649e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs759004962 CA961475 |
654 | R>Q | No |
ClinGen ExAC gnomAD |
No associated diseases with Q8N4M1
No regional properties for Q8N4M1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8N4M1 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| choline transmembrane transporter activity | Enables the transfer of choline from one side of a membrane to the other. Choline (2-hydroxyethyltrimethylammonium) is an amino alcohol that occurs widely in living organisms as a constituent of certain types of phospholipids and in the neurotransmitter acetylcholine. |
| transmembrane transporter activity | Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| phosphatidylcholine biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylcholines, any of a class of glycerophospholipids in which the phosphatidyl group is esterified to the hydroxyl group of choline. |
| transmembrane transport | The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MHCLGAEYLV | SAEGAPRQRE | WRPQIYRKCT | DTAWLFLFFL | FWTGLVFIMG | YSVVAGAAGR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LLFGYDSFGN | MCGKKNSPVE | GAPLSGQDMT | LKKHVFFMNS | CNLEVKGTQL | NRMALCVSNC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PEEQLDSLEE | VQFFANTSGS | FLCVYSLNSF | NYTHSPKADS | LCPRLPVPPS | KSFPLFNRCV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PQTPECYSLF | ASVLINDVDT | LHRILSGIMS | GRDTILGLCI | LALALSLAMM | FTFRFITTLL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VHIFISLVIL | GLLFVCGVLW | WLYYDYTNDL | SIELDTEREN | MKCVLGFAIV | STGITAVLLV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LIFVLRKRIK | LTVELFQITN | KAISSAPFLL | FQPLWTFAIL | IFFWVLWVAV | LLSLGTAGAA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QVMEGGQVEY | KPLSGIRYMW | SYHLIGLIWT | SEFILACQQM | TIAGAVVTCY | FNRSKNDPPD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| HPILSSLSIL | FFYHQGTVVK | GSFLISVVRI | PRIIVMYMQN | ALKEQQHGAL | SRYLFRCCYC |
| 490 | 500 | 510 | 520 | 530 | 540 |
| CFWCLDKYLL | HLNQNAYTTT | AINGTDFCTS | AKDAFKILSK | NSSHFTSINC | FGDFIIFLGK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VLVVCFTVFG | GLMAFNYNRA | FQVWAVPLLL | VAFFAYLVAH | SFLSVFETVL | DALFLCFAVD |
| 610 | 620 | 630 | 640 | 650 | |
| LETNDGSSEK | PYFMDQEFLS | FVKRSNKLNN | ARAQQDKHSL | RNEEGTELQA | IVR |