Q9BSJ8
PR
Gene name |
ESYT1 |
Protein name |
Extended synaptotagmin-1 |
Names |
E-Syt1, Membrane-bound C2 domain-containing protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23344 |
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 Q9BSJ8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BSJ8-F1 | Predicted | AlphaFoldDB |
870 variants for Q9BSJ8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs780961961 CA6623781 |
2 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA6623782 rs745566246 |
3 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs745566246 COSM1512638 CA385282465 |
3 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA385282492 rs769174462 |
4 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6623783 rs769174462 |
4 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385282519 rs1386863776 |
5 | P>S | No |
ClinGen gnomAD |
|
|
CA6623785 rs184008322 |
7 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385282597 rs1317123312 |
8 | G>A | No |
ClinGen gnomAD |
|
|
CA385282607 rs1475649082 |
9 | P>A | No |
ClinGen TOPMed |
|
|
CA6623787 rs772575851 |
9 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1300590540 CA385282630 |
10 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 10 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA237616831 rs931893017 |
10 | S>R | No |
ClinGen Ensembl |
|
|
rs1259776368 CA385282652 |
11 | P>R | No |
ClinGen TOPMed |
|
|
CA385282647 rs1370976958 |
11 | P>T | No |
ClinGen gnomAD |
|
|
rs1039009182 CA237616832 |
12 | S>N | No |
ClinGen TOPMed |
|
|
CA6623788 rs773732851 |
13 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385282755 rs1204789240 CA385282759 |
14 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA385282744 rs1348905834 |
14 | M>T | No |
ClinGen gnomAD |
|
|
CA237616836 rs994183975 |
14 | M>V | No |
ClinGen TOPMed |
|
|
CA385282786 rs1469902477 |
15 | D>G | No |
ClinGen gnomAD |
|
|
CA6623789 rs760993231 |
15 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs754042916 CA6623791 |
18 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA6623790 rs766776818 |
18 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA385282921 rs1365334589 |
20 | P>L | No |
ClinGen gnomAD |
|
|
CA385282887 rs1182351034 |
20 | P>T | No |
ClinGen gnomAD |
|
|
CA385282978 rs1157664413 |
23 | P>S | No |
ClinGen gnomAD |
|
|
rs1263445120 CA385283001 |
24 | T>A | No |
ClinGen TOPMed |
|
|
CA385283080 rs1323380304 |
27 | P>H | No |
ClinGen gnomAD |
|
|
rs1025615418 CA237616866 |
27 | P>S | No |
ClinGen TOPMed |
|
|
CA385283102 rs752763872 |
28 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392488588 CA385283116 |
28 | P>R | No |
ClinGen gnomAD |
|
|
rs752763872 CA6623794 |
28 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1462675034 | 29 | A>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 29 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372827802 CA237616875 |
29 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6623796 rs372827802 |
29 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751590013 CA6623797 |
29 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6623798 rs757098006 |
30 | A>P | No |
ClinGen ExAC |
|
|
CA385283165 rs1330191743 |
30 | A>V | No |
ClinGen TOPMed |
|
|
CA385283216 rs1337295355 |
32 | A>T | No |
ClinGen gnomAD |
|
|
rs1393621162 CA385283256 |
33 | K>N | No |
ClinGen TOPMed |
|
|
rs1231679605 CA385283271 |
34 | P>S | No |
ClinGen gnomAD |
|
|
rs1389095041 CA385283347 |
36 | P>L | No |
ClinGen TOPMed |
|
|
CA6623800 rs745511283 |
37 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA385283354 rs1196328383 |
37 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 41 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6623802 rs779590263 |
43 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs549960041 CA237616889 |
44 | G>D | No |
ClinGen 1000Genomes |
|
|
CA6623803 rs148777795 |
46 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148777795 CA385283552 |
46 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385283569 rs773683905 |
47 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1298418957 CA385283568 |
47 | A>T | No |
ClinGen gnomAD |
|
|
CA6623805 rs773683905 |
47 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA237616893 rs1036194653 |
48 | A>V | No |
ClinGen Ensembl |
|
|
rs377629248 CA6623806 |
49 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771277176 CA6623807 |
49 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1395019153 CA385283636 |
50 | E>G | No |
ClinGen gnomAD |
|
|
CA237616906 rs964885913 |
53 | A>E | No |
ClinGen TOPMed |
|
| TCGA novel | 54 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385283712 rs1592243065 |
54 | V>G | No |
ClinGen Ensembl |
|
|
CA385283782 rs1413182391 |
58 | F>S | No |
ClinGen gnomAD |
|
|
rs1308182203 CA385283801 |
59 | G>R | No |
ClinGen gnomAD |
|
|
rs763059827 CA6623812 |
60 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA385283840 rs1204347849 |
61 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA385283838 rs1337438773 |
61 | R>W | No |
ClinGen gnomAD |
|
|
rs974708848 CA237616915 |
64 | V>M | No |
ClinGen TOPMed |
|
|
CA6623813 rs200638178 |
66 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385283960 rs1486498993 |
67 | P>L | No |
ClinGen gnomAD |
|
|
CA237616920 rs1055436928 |
68 | V>M | No |
ClinGen Ensembl |
|
|
CA385284062 CA6623814 rs751530263 |
72 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767570708 CA6623816 |
73 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6623818 rs755886706 |
77 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA385284224 rs1377675034 |
78 | V>A | No |
ClinGen gnomAD |
|
|
CA6623819 rs375717323 |
78 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1046395566 CA237616932 |
86 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA385284515 rs1325865918 |
88 | Y>S | No |
ClinGen gnomAD |
|
|
CA385284694 rs1280897366 |
92 | R>C | No |
ClinGen gnomAD |
|
|
CA6623824 rs771369460 |
92 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1325747298 CA385284788 |
95 | R>C | No |
ClinGen TOPMed |
|
|
rs1255174987 CA385284827 |
96 | D>E | No |
ClinGen gnomAD |
|
|
rs565622890 CA6623826 |
96 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6623825 rs565622890 |
96 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 97 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1486028031 CA385284874 |
97 | E>A | No |
ClinGen gnomAD |
|
|
rs775760425 CA6623828 |
99 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA237616957 rs763144817 |
100 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199938724 CA6623831 |
100 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199938724 CA6623830 |
100 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6623829 rs763144817 |
100 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385285013 rs1397467215 |
101 | S>R | No |
ClinGen gnomAD |
|
|
CA237616967 rs750953305 |
103 | R>G | No |
ClinGen gnomAD |
|
|
rs1175862159 CA385285112 |
105 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 108 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6623834 rs750361548 |
110 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs140253116 CA6623835 |
111 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1373166242 CA385285366 |
112 | E>* | No |
ClinGen gnomAD |
|
|
rs766141522 CA6623836 |
113 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA237616972 rs144202837 |
113 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs753522057 CA237616992 |
114 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs753522057 CA6623837 |
114 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1464134739 CA385285516 |
115 | L>H | No |
ClinGen gnomAD |
|
|
rs1258538783 CA385285508 |
115 | L>V | No |
ClinGen gnomAD |
|
|
rs778550238 CA6623839 |
116 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA385285599 rs1375880401 |
117 | A>G | No |
ClinGen TOPMed |
|
|
rs1375880401 CA385285594 |
117 | A>V | No |
ClinGen TOPMed |
|
|
rs1028433386 CA237617000 |
118 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 118 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385285698 rs1254317693 |
119 | T>I | No |
ClinGen gnomAD |
|
|
CA385285733 rs1453185557 |
120 | L>P | No |
ClinGen gnomAD |
|
|
rs761226398 CA6623843 COSM431486 |
121 | Y>C | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA385285739 rs1592243194 |
121 | Y>H | No |
ClinGen Ensembl |
|
| TCGA novel | 121 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761226398 CA6623842 |
121 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385285830 rs1421203029 |
122 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1157237794 CA385285916 |
123 | S>R | No |
ClinGen gnomAD |
|
|
CA6623844 rs781640594 |
124 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA6623845 rs746413077 |
125 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA385286001 rs1328076551 |
126 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1174244943 CA385286067 |
128 | P>S | No |
ClinGen gnomAD |
|
|
CA237617021 rs948240167 |
129 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 129 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770183063 CA385286110 |
130 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs770183063 CA6623846 |
130 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1392292932 CA385286095 |
130 | W>G | No |
ClinGen gnomAD |
|
|
rs1272582616 CA385288339 |
132 | S>N | No |
ClinGen gnomAD |
|
|
rs773095768 CA237617975 |
135 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396194906 CA385288413 |
135 | D>N | No |
ClinGen TOPMed |
|
|
CA6623877 rs202161347 |
136 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs770723977 CA6623878 |
137 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 138 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6623879 rs776661754 |
140 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs759294337 CA6623880 |
142 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA237617994 rs1048325271 |
144 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA385289158 rs1286563651 |
145 | I>N | No |
ClinGen gnomAD |
|
|
CA385289176 rs1451551427 |
146 | V>M | No |
ClinGen TOPMed |
|
|
CA6623902 rs775201382 |
147 | A>T | No |
ClinGen ExAC |
|
|
rs1216122813 CA385289218 |
147 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1028523480 CA237618073 |
148 | Q>E | No |
ClinGen TOPMed |
|
|
rs754675825 CA6623903 |
148 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA385289255 rs1463691060 |
148 | Q>R | No |
ClinGen gnomAD |
|
|
rs1269958178 CA385289523 |
155 | Q>* | No |
ClinGen gnomAD |
|
|
CA6623904 rs200688042 |
156 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6623905 rs774087097 |
157 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA6623906 rs761202418 |
159 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs141221606 CA6623907 |
161 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144990033 CA6623912 |
167 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6623911 rs753059017 |
167 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6623914 rs747302015 |
169 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA385290019 rs747302015 |
169 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs757269007 CA6623915 |
170 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA6623916 rs781318295 |
171 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA385290100 rs1565872629 |
171 | G>R | No |
ClinGen Ensembl |
|
|
rs775428904 CA6623919 |
174 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6623920 rs749000640 |
175 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385290200 rs1228012809 |
176 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6623922 rs542114151 |
180 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385290317 rs1316332817 |
180 | T>S | No |
ClinGen TOPMed |
|
|
rs1211595116 CA385290355 |
182 | T>I | No |
ClinGen gnomAD |
|
|
rs1246206462 CA385290362 |
183 | R>* | No |
ClinGen gnomAD |
|
|
CA237618147 rs767078775 |
183 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767078775 CA6623924 |
183 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772787922 CA6623926 |
186 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs377064523 CA6623927 |
187 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385290423 rs1359862571 |
187 | G>S | No |
ClinGen TOPMed |
|
|
rs377064523 CA385290434 |
187 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385290454 rs1477636203 |
188 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA6623942 rs773027543 COSM4152892 |
192 | R>C | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs773027543 CA385290593 |
192 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs576236959 CA6623944 |
192 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6623943 rs773027543 |
192 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs545813777 CA6623945 |
193 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6623946 rs763584077 |
194 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369123779 CA385290639 |
194 | I>V | No |
ClinGen gnomAD |
|
|
CA385290667 rs1313843504 |
195 | G>R | No |
ClinGen gnomAD |
|
|
rs764514761 CA6623947 |
197 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1330025966 CA385290713 |
197 | K>T | No |
ClinGen gnomAD |
|
|
CA237618273 rs375454030 |
198 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA6623948 rs375454030 |
198 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA385290759 rs1237363423 |
199 | H>P | No |
ClinGen TOPMed |
|
|
rs762109837 CA6623949 |
199 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA237618276 rs889599860 |
201 | G>A | No |
ClinGen Ensembl |
|
|
CA6623950 rs767688557 |
203 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767688557 CA385290842 |
203 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6623951 rs750686373 |
203 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 204 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385290891 rs1276639259 |
205 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6623952 rs143166654 |
206 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780171087 CA6623953 |
209 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA385290984 rs753719258 |
210 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6623954 rs753719258 |
210 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385291183 rs1427722296 |
215 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs138764704 CA6623975 |
216 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385291208 rs138764704 |
216 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765187777 CA6623977 |
218 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA385291288 rs1240301094 |
219 | V>M | No |
ClinGen TOPMed |
|
|
CA6623978 rs752622453 |
220 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs560581410 CA237618403 |
220 | Q>H | No |
ClinGen Ensembl |
|
|
CA6623979 rs758253035 |
223 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1049373802 CA237618411 |
224 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1488230590 CA385291438 |
224 | E>Q | No |
ClinGen TOPMed |
|
|
rs1369505893 CA385291452 |
225 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 227 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6623980 rs372138826 |
229 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1300313525 CA385291748 |
234 | V>I | No |
ClinGen gnomAD |
|
|
CA385291817 rs1323456785 |
236 | G>S | No |
ClinGen TOPMed |
|
|
rs756912767 CA6623982 |
237 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746804081 CA385291847 |
237 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA385291888 rs1265707916 |
237 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6623981 rs746804081 |
237 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs745793527 CA237618433 CA385291954 |
238 | Q>H | No |
ClinGen gnomAD |
|
|
CA385292166 rs1252270224 |
240 | H>R | No |
ClinGen gnomAD |
|
|
CA6623998 rs758343186 |
240 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM941518 CA6624001 rs141902607 |
242 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6624004 rs755640570 |
244 | R>L | No |
ClinGen ExAC TOPMed |
|
|
CA385292290 rs755640570 |
244 | R>Q | No |
ClinGen ExAC TOPMed |
|
|
CA6624003 rs745557343 |
244 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs779500227 CA6624005 |
245 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779500227 CA6624006 |
245 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403543205 CA385292380 |
247 | L>R | No |
ClinGen gnomAD |
|
|
rs140431274 CA6624007 |
251 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385292482 rs1431440608 |
253 | D>N | No |
ClinGen gnomAD |
|
|
CA385292572 rs142834947 |
257 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142834947 CA6624009 |
257 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6624010 rs771247120 |
259 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 261 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759742950 CA6624012 |
261 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA385292732 rs1298941833 |
262 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs150646136 CA6624014 |
262 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150646136 CA6624013 |
262 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6624015 rs539374623 |
264 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6624016 rs764082685 |
266 | R>* | No |
ClinGen ExAC |
|
|
CA6624017 rs139843541 |
266 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6624018 rs761647672 |
267 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6624019 rs767277096 |
268 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 269 | T>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6624037 rs767497538 |
272 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439110215 CA385293246 |
272 | I>N | No |
ClinGen gnomAD |
|
|
CA385293572 rs1237136685 |
283 | I>V | No |
ClinGen TOPMed |
|
|
rs771434937 CA237618645 |
285 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1270109833 CA385293739 |
287 | S>N | No |
ClinGen gnomAD |
|
|
rs550727300 CA6624058 |
291 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385295497 rs1441018431 |
292 | T>S | No |
ClinGen TOPMed |
|
|
CA385295500 rs1320698031 |
293 | M>V | No |
ClinGen Ensembl |
|
|
rs1276327002 CA385295540 |
295 | M>V | No |
ClinGen gnomAD |
|
|
rs766216591 CA6624059 |
297 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA385295627 rs1471396983 |
300 | A>G | No |
ClinGen gnomAD |
|
|
rs759120656 CA6624061 |
303 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759120656 CA385295666 |
303 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs533020647 CA6624063 |
304 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6624064 rs757957563 |
305 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs767880698 CA6624065 |
306 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409439648 CA385295740 |
307 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1409439648 CA385295737 |
307 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA385295746 rs756534665 |
308 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200080223 CA6624068 |
309 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385295768 rs1246935136 |
309 | L>Q | No |
ClinGen gnomAD |
|
|
CA385295887 rs1488390559 |
314 | P>L | No |
ClinGen gnomAD |
|
|
rs1167942219 CA385295921 |
315 | D>E | No |
ClinGen TOPMed |
|
|
CA385295950 rs1464611986 |
317 | Q>E | No |
ClinGen TOPMed |
|
|
CA385296038 rs755196272 |
320 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755196272 CA6624071 |
320 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6624073 rs748140521 |
323 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6624074 rs570468342 |
323 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA385296123 rs1237272168 |
324 | S>A | No |
ClinGen TOPMed |
|
|
CA237618883 rs773005777 |
324 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs773005777 CA6624075 |
324 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385296157 rs1462845315 |
325 | P>H | No |
ClinGen TOPMed |
|
|
rs1385213459 CA385296194 |
327 | P>L | No |
ClinGen gnomAD |
|
|
CA6624086 rs370007040 |
329 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756624685 CA6624085 |
329 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA6624087 rs754209990 |
330 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs754209990 CA385296290 |
330 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6624088 rs755429291 |
331 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA385296337 COSM1205720 rs1445464675 |
332 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs976621148 CA237618936 |
332 | R>Q | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1171824693 CA385296364 |
333 | I>M | No |
ClinGen TOPMed |
|
|
CA6624090 rs778976202 |
334 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 334 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385296421 rs1322417005 |
336 | L>P | No |
ClinGen gnomAD |
|
|
rs1362907942 CA385296448 |
337 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6624092 rs756088856 |
339 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385296471 rs756088856 |
339 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6624093 rs373722430 COSM431487 |
339 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1592244949 CA385296499 |
340 | G>A | No |
ClinGen Ensembl |
|
|
rs1313659713 CA385296488 |
340 | G>R | No |
ClinGen gnomAD |
|
|
CA6624095 rs546720441 |
343 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs546720441 CA6624094 |
343 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA237618968 rs951212616 |
344 | K>M | No |
ClinGen Ensembl |
|
|
rs941129140 CA237618981 |
352 | I>M | No |
ClinGen Ensembl |
|
|
CA6624097 rs149405596 |
352 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385296878 rs1246773935 |
353 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs774993697 CA6624098 |
353 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385296932 rs201198388 |
355 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs971589082 CA237619002 |
357 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6624101 rs368188452 |
359 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs980820232 CA237619020 |
360 | A>T | No |
ClinGen Ensembl |
|
|
CA385297029 rs144813082 |
361 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766957159 CA6624103 |
361 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs144813082 CA6624102 |
361 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6624104 rs754440919 |
362 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA385297053 rs754440919 |
362 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6624105 rs759961896 |
363 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs140189916 CA6624106 |
363 | R>H | Variant assessed as Somatic; 0.0002772 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs753006358 CA6624107 |
364 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 368 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM941519 CA385297317 rs1433630203 |
372 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs541518352 CA6624108 |
372 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145708223 CA6624109 |
373 | V>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs751596964 CA6624110 |
374 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1265687619 CA385297397 |
375 | D>V | No |
ClinGen gnomAD |
|
|
CA385297387 rs1229757216 |
375 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 377 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385297441 rs1316847486 |
377 | E>Q | No |
ClinGen gnomAD |
|
|
CA237619061 rs1056721735 |
379 | N>S | No |
ClinGen TOPMed |
|
|
rs1158346262 CA385297541 |
380 | P>L | No |
ClinGen TOPMed |
|
|
CA6624112 rs781085866 |
380 | P>S | No |
ClinGen ExAC |
|
|
rs892761948 CA237619077 |
382 | W>* | No |
ClinGen gnomAD |
|
|
CA385297585 rs1222875311 |
382 | W>G | No |
ClinGen gnomAD |
|
|
rs945496473 CA385297615 |
383 | G>* | No |
ClinGen gnomAD |
|
|
CA6624113 rs745863512 |
383 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs945496473 CA237619086 |
383 | G>R | No |
ClinGen gnomAD |
|
|
CA6624114 rs769473046 |
384 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA385297684 rs1278934480 |
385 | T>I | No |
ClinGen Ensembl |
|
|
CA6624116 rs749052136 |
387 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs750496523 CA6624132 |
390 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1162698049 CA385297959 |
390 | V>I | No |
ClinGen gnomAD |
|
|
rs1431276363 CA385298020 |
391 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA385298033 rs1431276363 |
391 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA385298077 rs1565873430 |
392 | E>A | No |
ClinGen Ensembl |
|
|
CA385298063 rs1353528835 |
392 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs779831837 CA6624134 |
394 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1304066425 CA385298155 |
395 | G>E | No |
ClinGen gnomAD |
|
|
rs749144167 CA237619266 |
396 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs749144167 CA6624135 |
396 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1421716016 CA385298308 |
398 | I>T | No |
ClinGen TOPMed |
|
|
CA6624137 CA6624138 rs778725857 |
402 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6624141 rs746480776 |
404 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA6624140 rs763326606 |
404 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1486060888 CA385298590 |
405 | K>E | No |
ClinGen TOPMed |
|
|
CA385298620 rs1212412583 |
406 | D>N | No |
ClinGen gnomAD |
|
|
rs1235737771 CA385298664 |
407 | P>A | No |
ClinGen gnomAD |
|
|
rs1235737771 CA385298665 |
407 | P>S | No |
ClinGen gnomAD |
|
|
CA6624144 rs770374946 |
408 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237619328 rs1020400241 |
412 | F>L | No |
ClinGen TOPMed |
|
|
CA237619324 rs1016782676 |
412 | F>S | No |
ClinGen Ensembl |
|
|
CA6624146 rs763398340 |
414 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA6624164 rs769146928 |
416 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA385299403 rs1426637941 |
416 | M>L | No |
ClinGen gnomAD |
|
|
rs1159236880 CA385299476 |
417 | K>R | No |
ClinGen gnomAD |
|
|
CA385299490 rs1197391664 |
418 | L>P | No |
ClinGen TOPMed |
|
|
rs1356992304 CA385299512 |
419 | D>H | No |
ClinGen TOPMed |
|
|
CA385299573 rs1399393194 |
420 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1242129594 CA385299612 |
422 | K>E | No |
ClinGen gnomAD |
|
|
CA385299671 rs1592245484 |
423 | V>G | No |
ClinGen Ensembl |
|
|
CA6624166 rs762142069 |
423 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA237619762 rs139487802 |
425 | Q>* | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs139487802 CA6624167 |
425 | Q>E | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1281660065 CA385299747 |
426 | A>V | No |
ClinGen gnomAD |
|
|
rs760827038 CA6624169 |
427 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592245508 CA385299805 |
428 | V>G | No |
ClinGen Ensembl |
|
|
CA6624170 rs142549493 |
428 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1352756367 CA385299890 |
430 | D>G | No |
ClinGen gnomAD |
|
|
CA6624172 rs759453428 COSM1492961 |
431 | D>N | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs773492977 CA6624185 |
432 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763021394 CA6624186 |
434 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA385300177 rs1446902224 |
437 | G>A | No |
ClinGen gnomAD |
|
|
CA6624188 rs543854365 |
437 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385300225 rs1162136660 |
439 | Q>* | No |
ClinGen gnomAD |
|
|
CA385300228 rs1384989837 |
439 | Q>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 440 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385300503 rs1310051202 |
449 | L>P | No |
ClinGen gnomAD |
|
|
CA237619891 rs765298686 |
452 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752634110 CA6624191 |
455 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385300711 rs1334845496 |
457 | K>E | No |
ClinGen gnomAD |
|
|
CA385300834 rs1345377715 |
459 | E>G | No |
ClinGen TOPMed |
|
|
rs1454502779 CA385300816 |
459 | E>K | No |
ClinGen gnomAD |
|
|
rs763052138 CA385301037 |
461 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6624210 rs763052138 |
461 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385301031 rs763052138 |
461 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201163086 CA385301169 |
465 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774062784 CA6624212 |
466 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs761637260 CA6624213 |
467 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761637260 CA385301227 |
467 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237620028 rs896444319 |
468 | V>I | No |
ClinGen Ensembl |
|
|
rs1201185610 CA385301249 |
469 | S>P | No |
ClinGen gnomAD |
|
|
CA6624214 rs767105543 |
470 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs560118938 CA237620045 |
471 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs560118938 CA6624215 |
471 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs112882931 CA6624216 |
471 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6624217 COSM1492960 rs112882931 |
471 | R>Q | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1431769983 CA385301291 |
472 | P>T | No |
ClinGen TOPMed |
|
|
rs542574991 CA385301311 |
473 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs542574991 CA6624218 |
473 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6624219 rs758957237 |
474 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA6624220 rs562086537 |
475 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385301520 rs1565873822 |
481 | V>A | No |
ClinGen Ensembl |
|
|
rs757594009 CA6624223 |
481 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177062772 CA385301567 |
483 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6624224 rs200340349 |
486 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385301651 COSM431488 rs1382481528 |
486 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA385301704 rs746021986 |
489 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA6624225 rs746021986 |
489 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs746021986 CA6624226 |
489 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6624249 rs748049238 |
492 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs771895295 CA6624250 |
494 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375034247 CA6624252 |
495 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1475012696 CA385304196 |
496 | N>S | No |
ClinGen gnomAD |
|
|
CA385304311 rs1592245882 |
499 | P>S | No |
ClinGen Ensembl |
|
|
CA6624253 rs770604720 |
500 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1386840863 CA385304359 |
501 | P>S | No |
ClinGen gnomAD |
|
|
CA385304387 rs1422409429 |
502 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 503 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776220668 CA6624254 |
503 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1171395829 CA385304437 |
504 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA385304449 rs1354705919 |
504 | Q>R | No |
ClinGen gnomAD |
|
|
rs902328691 CA237620264 |
507 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1373333554 CA385304574 |
509 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA237620267 rs758982879 |
510 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6624255 rs758982879 |
510 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 511 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385304841 rs1184375290 |
516 | A>D | No |
ClinGen gnomAD |
|
|
rs1319448461 CA385304834 |
516 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6624271 rs374315495 |
520 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1267338900 CA385304954 |
521 | N>T | No |
ClinGen TOPMed |
|
|
CA385304974 rs1177894051 |
522 | C>R | No |
ClinGen gnomAD |
|
|
rs759301720 CA6624273 |
528 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1469731948 COSM191847 CA385305129 |
528 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs112615491 CA237620416 |
530 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6624276 rs112615491 |
530 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149720231 CA6624275 |
530 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385305184 rs1261414936 |
531 | F>I | No |
ClinGen TOPMed |
|
|
CA6624277 rs768169927 |
534 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs193251724 CA6624279 |
535 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750910208 CA6624278 |
535 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6624280 rs766780577 |
536 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs754146157 CA6624281 |
537 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368155629 CA6624283 |
540 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752857721 CA6624284 |
541 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6624286 rs371552356 |
542 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6624287 rs371552356 COSM3936047 |
542 | D>N | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1365137571 CA385307657 |
546 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 547 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780962166 CA6624306 |
547 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385307706 rs1330901436 |
548 | D>N | No |
ClinGen gnomAD |
|
|
rs1318467447 CA385307793 |
551 | A>T | No |
ClinGen TOPMed |
|
|
rs755816956 CA6624309 |
552 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6624311 rs201104998 |
553 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140388482 CA6624310 |
553 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6624312 rs369273609 |
558 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747636153 CA6624314 |
563 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771505391 CA6624315 |
563 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6624316 rs771505391 |
563 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385308283 rs1446846614 |
567 | A>V | No |
ClinGen gnomAD |
|
|
rs1182067555 CA385308317 |
569 | E>K | No |
ClinGen gnomAD |
|
|
CA237623807 rs896120058 |
571 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1003017466 CA237623806 |
571 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6624318 rs765457944 |
572 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs775919853 CA6624319 |
574 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA385308515 rs1368843747 |
575 | W>C | No |
ClinGen gnomAD |
|
|
CA6624320 rs763218653 |
577 | Q>R | No |
ClinGen ExAC TOPMed |
|
|
rs1408174624 CA385308650 |
580 | S>I | No |
ClinGen gnomAD |
|
|
CA385308673 rs1208431603 |
581 | S>A | No |
ClinGen TOPMed |
|
|
rs764280434 CA6624321 |
582 | G>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1705801 rs1383367660 CA385308720 |
583 | P>S | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 586 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757285850 CA6624323 |
587 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs767511602 CA6624324 |
588 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1271470470 CA385308981 |
590 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 592 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1197406078 CA385309052 |
593 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1023401304 CA237623827 |
594 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1023401304 CA237623829 |
594 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6624351 rs777207478 |
597 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6624350 rs758068249 |
597 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs149142059 CA6624354 |
598 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138187966 CA6624353 |
598 | L>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1398996069 CA385309265 |
599 | D>N | No |
ClinGen gnomAD |
|
|
CA385309312 rs1248756685 |
603 | I>V | No |
ClinGen Ensembl |
|
|
rs1402505520 CA385309369 |
606 | P>L | No |
ClinGen gnomAD |
|
|
CA6624358 rs762007691 |
607 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA385309427 rs1241713294 |
608 | V>A | No |
ClinGen gnomAD |
|
|
rs371463936 CA6624363 |
613 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1215706841 CA385309548 |
614 | A>V | No |
ClinGen TOPMed |
|
|
CA6624364 rs759411527 |
615 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1019898250 CA385309588 |
616 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA237624096 rs1019898250 |
616 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6624366 rs373758047 |
617 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6624367 rs758036849 |
618 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1592247645 CA385309715 |
622 | P>R | No |
ClinGen Ensembl |
|
|
rs777450936 CA6624369 |
628 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 630 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6624371 rs756744401 |
631 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6624372 rs780550661 |
632 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385309891 rs780550661 |
632 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393628066 CA385309912 |
633 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs201252820 CA6624374 |
633 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772219988 CA6624377 |
635 | C>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 635 | C>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773441805 CA6624378 |
635 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM1168760 rs747079262 CA385309973 |
637 | T>M | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6624379 rs747079262 |
637 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370697071 CA385310027 |
642 | Q>H | No |
ClinGen gnomAD |
|
|
rs759607902 CA6624383 |
642 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs115884011 CA6624385 |
646 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6624386 rs115884011 |
646 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368789931 CA6624419 |
647 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368789931 CA385310098 |
647 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs901432067 CA237624294 |
647 | H>Y | No |
ClinGen TOPMed |
|
|
CA385310109 rs1251379879 |
648 | V>L | No |
ClinGen TOPMed |
|
|
rs779858650 CA6624421 |
650 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769939110 CA6624420 |
650 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224016276 CA385310166 |
652 | H>Q | No |
ClinGen gnomAD |
|
|
CA6624422 rs749313112 |
653 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6624423 rs768463517 |
654 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209093846 CA385310216 |
656 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1209093846 CA385310218 |
656 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs774251746 CA6624424 |
657 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs771739466 CA6624426 |
660 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6624427 rs747263746 |
662 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6624428 rs760189557 |
663 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs760189557 CA385310348 |
663 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6624429 rs765983838 |
664 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6624430 rs765983838 |
664 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs763567977 COSM3359842 CA6624431 |
664 | R>H | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs764482027 CA6624432 |
667 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs577368857 CA385310484 |
668 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6624433 rs577368857 COSM549232 |
668 | G>E | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA385310471 rs1565875156 |
668 | G>R | No |
ClinGen Ensembl |
|
|
rs577368857 CA6624434 |
668 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1346269284 CA385310563 |
672 | G>D | No |
ClinGen gnomAD |
|
|
rs969375647 COSM431490 CA237624336 |
674 | S>L | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA385310755 rs368694162 |
677 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA237624338 rs988418163 |
677 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1035983987 CA237624342 |
678 | V>I | No |
ClinGen Ensembl |
|
|
CA6624438 rs780237115 |
679 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA385310846 rs778671563 |
681 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6624440 rs376961427 |
681 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6624442 rs747955814 |
682 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs190627061 CA6624443 |
685 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA6624444 rs575075620 |
685 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6624445 rs201006403 |
686 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200401402 CA6624447 |
688 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770470628 COSM232300 CA6624446 |
688 | R>W | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs913052003 CA237624379 CA385310991 |
689 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs758933557 CA6624448 |
690 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6624449 rs764684970 |
693 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774943160 CA6624450 |
693 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385311064 rs764684970 |
693 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1426632234 CA385311092 |
695 | D>H | No |
ClinGen gnomAD |
|
|
CA6624451 rs563308963 |
697 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1416303858 CA385311159 |
698 | P>L | No |
ClinGen TOPMed |
|
|
CA6624453 rs144074014 |
699 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750802309 CA6624454 |
699 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA6624455 rs756408057 |
700 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA385311205 rs756408057 |
700 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA6624456 rs766479103 |
701 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA6624457 rs753977735 |
702 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA6624458 rs754960505 |
703 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs939780567 CA237624400 |
703 | V>I | No |
ClinGen TOPMed |
|
|
CA6624460 rs748009149 |
704 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA385311394 rs1316539667 |
706 | V>A | No |
ClinGen TOPMed |
|
|
CA6624480 rs777651929 |
708 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs746847546 CA6624481 |
712 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6624483 rs373806602 |
714 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371156133 CA6624482 |
714 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs555796104 CA237624584 |
717 | E>Q | No |
ClinGen Ensembl |
|
|
CA385311590 rs1193686812 |
718 | V>A | No |
ClinGen TOPMed |
|
|
CA385311587 rs745575716 |
718 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745575716 CA6624484 |
718 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385311624 rs1391239298 |
720 | V>I | No |
ClinGen gnomAD |
|
|
CA385311678 rs1239960533 |
722 | D>H | No |
ClinGen TOPMed |
|
|
rs1214654969 CA385311784 |
726 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs775188361 CA6624486 |
729 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385311883 rs1397511355 |
730 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs759854694 CA6624511 |
734 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA6624512 rs770026021 |
734 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1434823770 CA385313415 |
735 | K>E | No |
ClinGen gnomAD |
|
|
rs775631340 CA6624513 |
737 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385313457 rs775631340 |
737 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773812390 CA6624514 |
737 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1280897321 COSM1235508 CA385313506 |
739 | T>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA385313523 rs764229081 |
740 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6624515 rs764229081 |
740 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149880853 CA237624765 |
746 | F>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA237624788 rs970562740 |
748 | D>E | No |
ClinGen TOPMed |
|
|
CA6624517 rs113588232 |
748 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA237624782 rs113588232 |
748 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA237624845 rs942488795 |
750 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6624525 rs372332506 |
752 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746245056 CA6624529 |
756 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6624530 rs770081722 |
758 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA6624532 rs749573194 |
760 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6624533 rs768904067 |
762 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1458151760 CA385314021 |
763 | L>V | No |
ClinGen gnomAD |
|
|
VAR_038190 rs35075600 CA6624536 |
764 | R>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs200723565 CA6624538 |
764 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs35075600 CA6624537 |
764 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1415447267 CA385314057 |
766 | E>K | No |
ClinGen gnomAD |
|
|
COSM1363030 CA6624539 rs760550478 |
767 | R>C | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
rs766342299 CA6624540 |
767 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1565875509 CA385314086 |
768 | L>F | No |
ClinGen Ensembl |
|
|
rs753670936 CA6624542 |
769 | T>I | No |
ClinGen ExAC gnomAD |
|
|
COSM229235 CA385314117 rs1467623939 |
770 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA385314111 rs1425045827 |
770 | P>T | No |
ClinGen gnomAD |
|
|
CA6624543 rs368530667 |
771 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6624544 rs368530667 |
771 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371820154 CA6624545 |
771 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371820154 CA6624546 |
771 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368530667 CA237624947 |
771 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs774883662 | 771 | R>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385314133 rs1449150859 |
772 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1449150859 CA385314134 |
772 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6624547 rs781555921 |
777 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6624548 rs746445225 |
778 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385314323 rs1565875639 |
781 | L>Q | No |
ClinGen Ensembl |
|
|
rs748470234 CA6624573 |
782 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA237625200 rs765688380 |
782 | Q>H | No |
ClinGen Ensembl |
|
|
rs1393249699 CA385314367 |
782 | Q>P | No |
ClinGen TOPMed |
|
|
CA6624574 rs772170969 |
787 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6624575 rs778047172 |
788 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385314560 rs1565875660 |
790 | Q>H | No |
ClinGen Ensembl |
|
|
rs1565875666 CA385314581 |
791 | K>M | No |
ClinGen Ensembl |
|
|
rs1565875663 CA385314562 |
791 | K>Q | No |
ClinGen Ensembl |
|
|
CA6624576 rs747053313 |
792 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA385314604 rs747053313 |
792 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA385314620 rs140352451 |
793 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140352451 CA6624577 |
793 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs964235029 CA237625218 |
795 | L>P | No |
ClinGen gnomAD |
|
|
CA237625225 rs926129353 |
796 | A>P | No |
ClinGen TOPMed |
|
|
CA385314745 rs1437070306 |
796 | A>V | No |
ClinGen gnomAD |
|
|
CA6624580 rs376539194 |
797 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372054154 CA237625241 |
801 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 803 | Y>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385314979 rs1232870667 |
803 | Y>C | No |
ClinGen TOPMed |
|
|
rs1282909546 CA385315043 |
805 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA385315029 rs1213893967 |
805 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA385315068 rs763709224 |
806 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763709224 CA6624583 COSM3782746 |
806 | R>Q | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs762719993 CA6624582 COSM431491 |
806 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA385315184 rs1289208962 |
810 | L>I | No |
ClinGen TOPMed |
|
|
rs140909985 CA6624585 |
811 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150191812 CA6624601 |
812 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768316776 CA6624602 |
813 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392507922 CA385315442 |
816 | T>A | No |
ClinGen TOPMed |
|
|
rs773932910 CA6624603 |
818 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385315522 rs1393335292 |
820 | S>G | No |
ClinGen TOPMed |
|
|
rs1402227862 CA385315635 |
823 | A>V | No |
ClinGen gnomAD |
|
|
CA237625644 rs887828425 |
824 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6624605 rs767077490 |
827 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA385315744 rs1334809142 |
829 | D>G | No |
ClinGen gnomAD |
|
|
rs749886142 CA6624606 |
829 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 829 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6624608 rs765628415 |
831 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381547717 CA385315872 |
832 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA385315997 rs909523522 |
835 | K>R | No |
ClinGen TOPMed |
|
|
CA237625664 rs909523522 |
835 | K>T | No |
ClinGen TOPMed |
|
|
rs943375731 CA237625860 |
836 | T>A | No |
ClinGen Ensembl |
|
|
CA385316129 rs1484618739 COSM941524 |
836 | T>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1354295577 CA385316139 |
837 | I>V | No |
ClinGen gnomAD |
|
|
rs79083300 CA6624621 |
838 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1400018480 CA385316152 |
838 | S>T | No |
ClinGen gnomAD |
|
|
CA6624620 rs79083300 |
838 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6624623 rs147070386 |
839 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs553498889 CA6624625 |
843 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385316269 rs553498889 |
843 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765789148 CA6624626 |
844 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385316320 rs1279817114 |
845 | W>* | No |
ClinGen gnomAD |
|
|
CA385316332 rs1191335331 |
846 | D>N | No |
ClinGen TOPMed |
|
|
CA385316408 rs1195851808 |
848 | S>I | No |
ClinGen gnomAD |
|
|
rs1240047722 CA385316417 |
849 | A>T | No |
ClinGen TOPMed |
|
|
COSM1205717 CA6624628 rs775795847 |
849 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA6624629 rs763550926 |
850 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1192154337 CA385316458 |
851 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 852 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 852 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6624632 rs757597127 |
857 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6624633 rs767597990 |
858 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs750542013 CA6624634 |
858 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138457013 CA237625931 |
863 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749285616 CA6624637 |
864 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1295377162 CA385319873 |
865 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs144008887 CA6624654 |
866 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756352947 CA6624653 |
866 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385319958 rs1489416980 |
867 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1266034413 CA385319935 |
867 | G>S | No |
ClinGen gnomAD |
|
|
rs754947938 CA6624656 |
868 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs148075380 CA385320036 |
872 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6624658 rs148075380 |
872 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758063493 CA6624659 |
876 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs777622339 CA6624660 |
879 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1418002174 CA385320185 |
879 | P>S | No |
ClinGen gnomAD |
|
|
CA6624664 rs148377879 |
885 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs965365854 CA237629120 |
887 | D>E | No |
ClinGen TOPMed |
|
|
CA237629121 rs541360017 |
888 | Q>H | No |
ClinGen Ensembl |
|
|
CA6624665 rs374922270 |
893 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374922270 CA6624666 |
893 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774943544 CA6624667 |
893 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6624668 rs200337065 |
899 | S>C | No |
ClinGen 1000Genomes ExAC |
|
|
rs1027169719 CA237629154 |
899 | S>N | No |
ClinGen TOPMed |
|
|
CA237629165 rs141601485 |
899 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773609344 CA6624670 |
900 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385320705 rs1231415486 COSM3398888 |
901 | Q>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6624671 rs760852463 |
901 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1592250610 CA385320766 |
904 | V>G | No |
ClinGen Ensembl |
|
|
CA385320756 rs1565877291 |
904 | V>L | No |
ClinGen Ensembl |
|
|
rs753950334 CA6624673 |
907 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480098134 CA385320830 |
907 | R>S | No |
ClinGen gnomAD |
|
|
CA385320836 rs1181985883 |
908 | A>T | No |
ClinGen gnomAD |
|
|
CA385320862 rs1270221790 |
909 | Q>E | No |
ClinGen TOPMed |
|
| TCGA novel | 910 | L>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6624674 rs759562063 |
910 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA385321062 rs1298868830 |
915 | S>C | No |
ClinGen gnomAD |
|
|
rs1298868830 CA385321065 |
915 | S>F | No |
ClinGen gnomAD |
|
|
CA6624690 rs761060739 |
917 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs758685693 CA237629339 |
918 | S>A | No |
ClinGen Ensembl |
|
|
CA6624691 rs771079385 |
918 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771079385 CA385321118 |
918 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369930710 CA237629349 |
919 | G>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA237629353 rs1041140438 |
923 | H>R | No |
ClinGen TOPMed |
|
|
CA385321165 rs1345279115 |
923 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA385321190 rs1309980482 |
924 | S>N | No |
ClinGen TOPMed |
|
|
CA6624694 rs765360616 |
924 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA6624695 rs752752011 |
925 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA385321264 rs1592250760 |
927 | Y>S | No |
ClinGen Ensembl |
|
|
rs762839631 CA385321283 |
928 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA6624696 rs762839631 |
928 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA385321299 rs1239137708 |
929 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs201494518 CA237629370 |
931 | S>A | No |
ClinGen 1000Genomes |
|
|
rs1489011954 CA385321375 |
931 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs531891775 CA6624700 |
933 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393562642 CA385321412 |
933 | S>T | No |
ClinGen gnomAD |
|
|
CA6624701 rs767286366 |
934 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs755811339 CA6624703 |
935 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385321466 rs1344530974 |
936 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6624704 rs779757391 |
938 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs748797569 CA6624705 |
939 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 939 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6624707 rs150505165 |
941 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1246927377 CA385321537 |
942 | G>R | No |
ClinGen TOPMed |
|
|
rs1565877400 CA385321543 |
943 | G>* | No |
ClinGen Ensembl |
|
|
CA385321544 rs375719838 |
943 | G>A | No |
ClinGen ESP gnomAD |
|
|
CA237629436 rs375719838 |
943 | G>E | No |
ClinGen ESP gnomAD |
|
|
CA237629442 rs1016636451 |
946 | H>P | No |
ClinGen Ensembl |
|
|
rs1322833943 CA385321559 |
946 | H>Y | No |
ClinGen gnomAD |
|
|
CA6624709 rs771218031 |
947 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385321575 rs925155614 |
948 | T>I | No |
ClinGen TOPMed |
|
|
rs925155614 CA237629462 |
948 | T>N | No |
ClinGen TOPMed |
|
|
rs1592250837 CA385321571 |
948 | T>P | No |
ClinGen Ensembl |
|
|
CA6624710 rs139477040 |
951 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385321588 rs1468285730 |
951 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA237629477 rs751845081 |
952 | P>L | No |
ClinGen Ensembl |
|
|
rs979933091 CA237629475 |
952 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs769974803 CA6624712 |
955 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746138555 CA6624711 |
955 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6624714 COSM1205719 rs763043450 |
957 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs763954170 CA6624715 |
957 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592250878 CA385321640 |
960 | H>R | No |
ClinGen Ensembl |
|
|
rs774282500 CA6624716 |
960 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs537628457 CA6624736 |
964 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6624737 rs537628457 |
964 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6624739 rs760497101 |
965 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 966 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 967 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385321704 rs1474828947 |
968 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs375779951 CA6624742 |
970 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752117469 CA6624744 |
971 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757794594 CA6624746 |
973 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1436106696 CA385321729 |
973 | G>R | No |
ClinGen gnomAD |
|
|
CA6624747 rs200287945 |
974 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750802746 CA385321740 |
975 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750802746 CA6624748 |
975 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6624749 rs201370688 |
979 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 980 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385321769 rs1227061479 |
980 | W>R | No |
ClinGen gnomAD |
|
| TCGA novel | 981 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs887357712 CA237629765 |
981 | Y>F | No |
ClinGen TOPMed |
|
|
CA6624752 rs199780953 |
986 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199780953 CA385321826 |
986 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201317365 CA6624754 |
986 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385321875 rs1488636838 |
990 | S>I | No |
ClinGen gnomAD |
|
|
CA385321886 rs1202786014 |
991 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA385321918 rs1205670663 |
993 | H>D | No |
ClinGen gnomAD |
|
|
rs1019560464 CA385321928 |
993 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1019560464 CA237629792 |
993 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA385321950 rs1445072079 |
995 | C>R | No |
ClinGen gnomAD |
|
|
CA6624756 rs772155578 |
996 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6624755 rs748196069 |
996 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6624770 rs146217441 |
999 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA385322070 rs181946138 |
999 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6624771 rs181946138 |
999 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139259039 CA6624772 |
1002 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138079553 CA6624773 |
1003 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA gnomAD |
|
rs118093586 CA6624774 COSM3688333 |
1003 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6624776 rs149547694 |
1005 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6624775 rs747000310 |
1005 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385322179 rs1460150647 |
1006 | P>L | No |
ClinGen gnomAD |
|
|
rs545963093 CA6624778 |
1009 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775060253 CA6624780 |
1015 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs980559689 CA237629944 |
1016 | P>L | No |
ClinGen TOPMed |
|
|
CA385322294 rs1349313377 |
1017 | D>E | No |
ClinGen TOPMed |
|
|
CA6624781 rs762592754 |
1018 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1238268552 CA385322309 |
1019 | N>K | No |
ClinGen gnomAD |
|
|
rs1392735321 CA385322307 |
1019 | N>S | No |
ClinGen TOPMed |
|
|
CA385322312 COSM1747143 rs1273670272 |
1020 | R>* | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA6624782 rs148687619 |
1020 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773832877 CA6624783 |
1021 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA6624784 rs761281613 |
1022 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA385322375 rs1565877581 |
1028 | Q>K | No |
ClinGen Ensembl |
|
|
rs1048535460 CA237629977 |
1028 | Q>R | No |
ClinGen TOPMed |
|
|
rs200621809 CA6624785 |
1029 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385322409 rs1247846926 |
1030 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1189287007 CA385322434 |
1032 | T>I | No |
ClinGen gnomAD |
|
|
CA385322441 rs1439717594 |
1033 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs765500417 CA6624788 |
1033 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1034 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753032863 CA6624789 |
1035 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1265538352 CA385322461 |
1035 | P>T | No |
ClinGen TOPMed |
|
|
CA385322476 rs1164644224 |
1036 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA237630010 rs113072447 |
1040 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs940257946 CA237630020 |
1040 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM1179959 rs113072447 CA6624790 |
1040 | R>W | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs1474500588 CA385322629 |
1043 | W>R | No |
ClinGen gnomAD |
|
|
rs768261699 CA6624799 |
1045 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761176057 CA6624802 |
1046 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766920995 CA6624803 |
1047 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs776933828 CA6624804 |
1048 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA385322767 rs1159149372 |
1050 | A>V | No |
ClinGen TOPMed |
|
|
CA385322773 rs1471196585 |
1051 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1001425119 CA237630137 |
1051 | Q>R | No |
ClinGen TOPMed |
|
|
CA385322792 rs1198400132 |
1052 | R>K | No |
ClinGen TOPMed |
|
|
CA6624805 rs760082019 |
1053 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1314801741 CA385322809 |
1053 | R>Q | No |
ClinGen gnomAD |
|
|
CA385322832 rs1434024246 |
1054 | K>N | No |
ClinGen TOPMed |
|
|
rs1377247791 CA385322825 |
1054 | K>R | No |
ClinGen gnomAD |
|
|
rs1412897166 CA385322855 |
1056 | D>G | No |
ClinGen gnomAD |
|
|
CA237630141 rs1035456641 |
1057 | V>A | No |
ClinGen Ensembl |
|
|
CA385322915 rs1255242629 |
1060 | K>R | No |
ClinGen TOPMed |
|
|
rs959870836 CA237630145 |
1062 | N>D | No |
ClinGen gnomAD |
|
|
rs1000736291 CA237630162 |
1063 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1293083739 CA385322979 |
1064 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 1065 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1341003663 CA385323011 |
1066 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA385323091 rs1278533779 |
1069 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs753089681 CA6624807 |
1070 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6624808 rs371562380 |
1070 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371562380 CA385323109 |
1070 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1484376414 CA385323166 |
1073 | L>R | No |
ClinGen gnomAD |
|
|
rs1342230387 CA385323180 |
1074 | G>A | No |
ClinGen TOPMed |
|
|
CA385323337 rs1433737936 |
1077 | Q>E | No |
ClinGen gnomAD |
|
|
rs764417813 CA6624828 |
1081 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA385323478 rs1274800936 |
1083 | T>I | No |
ClinGen TOPMed |
|
|
rs1402344533 CA385323484 |
1084 | D>H | No |
ClinGen gnomAD |
|
|
rs1156778587 CA385323538 |
1086 | S>F | No |
ClinGen gnomAD |
|
|
rs372234838 CA6624829 |
1087 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762084992 CA6624830 |
1089 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6624832 rs376840559 |
1091 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6624831 rs767546962 |
1091 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs191962747 CA6624858 |
1092 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385323809 rs1189926145 |
1094 | D>A | No |
ClinGen gnomAD |
|
|
CA6624859 rs758018341 |
1094 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1189082008 CA385323862 |
1096 | M>I | No |
ClinGen TOPMed |
|
|
rs777427580 CA6624860 |
1096 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA237630730 rs922884080 |
1097 | D>E | No |
ClinGen gnomAD |
|
|
rs985503689 CA237630722 |
1097 | D>H | No |
ClinGen TOPMed |
|
|
rs746523938 CA6624862 |
1098 | N>K | No |
ClinGen ExAC |
|
|
CA385323939 rs1421207292 |
1099 | K>N | No |
ClinGen gnomAD |
|
|
rs756896329 CA6624863 |
1100 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1592251485 CA385323995 |
1101 | K>N | No |
ClinGen Ensembl |
|
|
CA237630764 rs111630642 |
1105 | S>Q | No |
ClinGen Ensembl |
No associated diseases with Q9BSJ8
12 regional properties for Q9BSJ8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | C2 domain | 312 - 435 | IPR000008-1 |
| domain | C2 domain | 460 - 580 | IPR000008-2 |
| domain | C2 domain | 627 - 753 | IPR000008-3 |
| domain | C2 domain | 777 - 899 | IPR000008-4 |
| domain | C2 domain | 971 - 1095 | IPR000008-5 |
| domain | Synaptotagmin-like mitochondrial-lipid-binding domain | 135 - 313 | IPR031468 |
| domain | Extended synaptotagmin, C2A domain | 329 - 448 | IPR037733-1 |
| domain | Extended synaptotagmin, C2A domain | 647 - 766 | IPR037733-2 |
| domain | Extended synaptotagmin, C2B domain | 479 - 583 | IPR037749-1 |
| domain | Extended synaptotagmin, C2B domain | 799 - 900 | IPR037749-2 |
| domain | Extended synaptotagmin, C-terminal C2 domain | 971 - 1096 | IPR037752 |
| domain | Synaptotagmin, SMP domain | 135 - 313 | IPR039010 |
Functions
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| extrinsic component of cytoplasmic side of plasma membrane | The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its cytoplasmic surface, but not integrated into the hydrophobic region. |
| integral component of endoplasmic reticulum membrane | The component of the endoplasmic reticulum 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. |
| intrinsic component of endoplasmic reticulum membrane | The component of the endoplasmic reticulum membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| calcium-dependent phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester, in the presence of calcium. |
| identical protein binding | Binding to an identical protein or proteins. |
| phosphatidylcholine binding | Binding to a phosphatidylcholine, a glycophospholipid in which a phosphatidyl group is esterified to the hydroxyl group of choline. |
| phosphatidylethanolamine binding | Binding to a phosphatidylethanolamine, a class of glycerophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of ethanolamine. |
| phosphatidylinositol binding | Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives. |
| phospholipid transfer activity | Removes a phospholipid from a membrane or a monolayer lipid particle, transports it through the aqueous phase while protected in a hydrophobic pocket, and brings it to an acceptor membrane or lipid particle. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| endoplasmic reticulum-plasma membrane tethering | The attachment of an endoplasmic reticulum membrane to the plasma membrane via molecular tethers. |
| intermembrane lipid transfer | The transport of lipids between membranes in which a lipid molecule is transported through an aqueous phase from the outer leaflet of a donor membrane to the outer leaflet of an acceptor membrane. This process does not require metabolic energy and can be either spontaneous or mediated by lipid transfer proteins (LTPs). |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3TZZ7 | Esyt2 | Extended synaptotagmin-2 | Mus musculus (Mouse) | PR |
| Q3U7R1 | Esyt1 | Extended synaptotagmin-1 | Mus musculus (Mouse) | PR |
| B6ETT4 | SYT2 | Synaptotagmin-2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| A0JJX5 | SYT4 | Synaptotagmin-4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q7XA06 | SYT3 | Synaptotagmin-3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SKR2 | SYT1 | Synaptotagmin-1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MERSPGEGPS | PSPMDQPSAP | SDPTDQPPAA | HAKPDPGSGG | QPAGPGAAGE | ALAVLTSFGR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RLLVLIPVYL | AGAVGLSVGF | VLFGLALYLG | WRRVRDEKER | SLRAARQLLD | DEEQLTAKTL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YMSHRELPAW | VSFPDVEKAE | WLNKIVAQVW | PFLGQYMEKL | LAETVAPAVR | GSNPHLQTFT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FTRVELGEKP | LRIIGVKVHP | GQRKEQILLD | LNISYVGDVQ | IDVEVKKYFC | KAGVKGMQLH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GVLRVILEPL | IGDLPFVGAV | SMFFIRRPTL | DINWTGMTNL | LDIPGLSSLS | DTMIMDSIAA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FLVLPNRLLV | PLVPDLQDVA | QLRSPLPRGI | IRIHLLAARG | LSSKDKYVKG | LIEGKSDPYA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LVRLGTQTFC | SRVIDEELNP | QWGETYEVMV | HEVPGQEIEV | EVFDKDPDKD | DFLGRMKLDV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GKVLQASVLD | DWFPLQGGQG | QVHLRLEWLS | LLSDAEKLEQ | VLQWNWGVSS | RPDPPSAAIL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VVYLDRAQDL | PLKKGNKEPN | PMVQLSIQDV | TQESKAVYST | NCPVWEEAFR | FFLQDPQSQE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LDVQVKDDSR | ALTLGALTLP | LARLLTAPEL | ILDQWFQLSS | SGPNSRLYMK | LVMRILYLDS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SEICFPTVPG | CPGAWDVDSE | NPQRGSSVDA | PPRPCHTTPD | SQFGTEHVLR | IHVLEAQDLI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| AKDRFLGGLV | KGKSDPYVKL | KLAGRSFRSH | VVREDLNPRW | NEVFEVIVTS | VPGQELEVEV |
| 730 | 740 | 750 | 760 | 770 | 780 |
| FDKDLDKDDF | LGRCKVRLTT | VLNSGFLDEW | LTLEDVPSGR | LHLRLERLTP | RPTAAELEEV |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LQVNSLIQTQ | KSAELAAALL | SIYMERAEDL | PLRKGTKHLS | PYATLTVGDS | SHKTKTISQT |
| 850 | 860 | 870 | 880 | 890 | 900 |
| SAPVWDESAS | FLIRKPHTES | LELQVRGEGT | GVLGSLSLPL | SELLVADQLC | LDRWFTLSSG |
| 910 | 920 | 930 | 940 | 950 | 960 |
| QGQVLLRAQL | GILVSQHSGV | EAHSHSYSHS | SSSLSEEPEL | SGGPPHITSS | APELRQRLTH |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| VDSPLEAPAG | PLGQVKLTLW | YYSEERKLVS | IVHGCRSLRQ | NGRDPPDPYV | SLLLLPDKNR |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| GTKRRTSQKK | RTLSPEFNER | FEWELPLDEA | QRRKLDVSVK | SNSSFMSRER | ELLGKVQLDL |
| 1090 | 1100 | ||||
| AETDLSQGVA | RWYDLMDNKD | KGSS |