Q6L9W6
PR
Gene name |
B4GALNT3 |
Protein name |
Beta-1,4-N-acetylgalactosaminyltransferase 3 |
Names |
B4GalNAcT3, Beta4GalNAc-T3, Beta4GalNAcT3, Beta-1,4-N-acetylgalactosaminyltransferase III, N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 2, NGalNAc-T2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:283358 |
EC number |
2.4.1.244: Hexosyltransferases |
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 Q6L9W6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6L9W6-F1 | Predicted | AlphaFoldDB |
870 variants for Q6L9W6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs766979963 CA6380390 |
2 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 2 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1418747665 CA383642721 |
4 | P>L | No |
ClinGen gnomAD |
|
|
CA383642726 rs1473364974 |
5 | R>P | No |
ClinGen TOPMed |
|
|
CA383642723 rs1158829418 |
5 | R>W | No |
ClinGen gnomAD |
|
|
CA383642730 rs1409317597 |
6 | A>D | No |
ClinGen TOPMed |
|
|
CA383642733 rs1592004008 |
7 | A>T | No |
ClinGen Ensembl |
|
|
rs1412586008 CA383642736 |
7 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA231422957 rs905712850 |
9 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA383642751 rs1450056536 |
10 | P>S | No |
ClinGen gnomAD |
|
|
CA383642762 rs1374708237 |
12 | L>F | No |
ClinGen gnomAD |
|
|
rs1287065902 CA383642767 |
13 | L>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1199163804 CA383642774 |
14 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1199163804 CA383642775 |
14 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA383642771 rs1284062785 |
14 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA383642780 rs759949676 |
15 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759949676 CA6380392 |
15 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6380391 rs774906715 |
15 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383642786 rs1384986599 |
16 | V>E | No |
ClinGen TOPMed |
|
|
rs1235857046 CA383642791 |
17 | K>R | No |
ClinGen gnomAD |
|
|
rs1438596794 CA383642796 |
18 | L>V | No |
ClinGen gnomAD |
|
|
CA6380393 rs767943173 |
20 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs752305464 CA6380394 |
21 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1416133150 CA383642817 |
22 | R>H | No |
ClinGen gnomAD |
|
|
CA231422980 rs1035522519 |
22 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6380396 rs763574754 |
24 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs376271214 CA231422994 |
28 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs758215549 CA6380401 |
30 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA383642864 rs1256764396 |
31 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA383642870 rs1457707990 |
32 | V>L | No |
ClinGen gnomAD |
|
|
rs1488403133 CA383642878 |
33 | S>F | No |
ClinGen gnomAD |
|
|
rs1198791377 CA383642883 |
34 | V>M | No |
ClinGen gnomAD |
|
|
rs748328155 CA383642889 |
35 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs968677460 CA231423007 |
35 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs748328155 CA6380403 |
35 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA231423013 rs201909336 |
37 | W>* | No |
ClinGen 1000Genomes |
|
|
rs1267280791 CA383642909 |
38 | T>I | No |
ClinGen TOPMed |
|
|
CA6380406 rs777775023 |
43 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA6380407 rs777775023 |
43 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA383642947 rs1266431867 |
45 | A>P | No |
ClinGen TOPMed |
|
|
rs1466061292 CA383642951 |
45 | A>V | No |
ClinGen gnomAD |
|
|
CA6380409 rs775018931 |
46 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA383642954 rs1398681340 |
46 | S>P | No |
ClinGen gnomAD |
|
|
rs1323203281 CA383642962 |
47 | A>V | No |
ClinGen gnomAD |
|
|
CA231423031 rs11609193 |
48 | Q>H | No |
ClinGen Ensembl |
|
|
rs1331872641 CA383642974 |
49 | V>A | No |
ClinGen gnomAD |
|
|
rs760061774 CA6380410 |
50 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA383642982 rs1276684119 |
51 | G>W | No |
ClinGen gnomAD |
|
|
CA383642994 rs1317856243 |
52 | N>K | No |
ClinGen gnomAD |
|
|
CA6380411 rs772569056 |
53 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1158239689 CA383643015 |
56 | R>Q | No |
ClinGen gnomAD |
|
|
rs772614754 CA383312050 |
58 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6380431 rs2075033 VAR_027842 |
59 | G>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6380432 rs761066999 |
60 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs145798250 CA6380433 |
61 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383312106 rs1488524327 |
61 | W>G | No |
ClinGen gnomAD |
|
|
CA383312123 rs776290300 |
62 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1592046160 CA383312153 |
63 | E>* | No |
ClinGen Ensembl |
|
|
CA6380436 rs764735501 |
64 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383312206 rs1385870509 |
64 | L>P | No |
ClinGen gnomAD |
|
|
CA383312287 rs1426825934 |
67 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 68 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383312324 rs1409127263 |
69 | A>D | No |
ClinGen TOPMed |
|
| TCGA novel | 69 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs553631645 CA6380437 |
70 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383312361 rs1555157313 |
70 | S>R | No |
ClinGen Ensembl |
|
|
rs1420735607 CA383312382 |
71 | R>K | No |
ClinGen gnomAD |
|
|
rs762936730 CA6380438 |
71 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs766319922 CA6380439 |
72 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383312483 rs1389600625 |
74 | P>L | No |
ClinGen TOPMed |
|
|
CA6380440 rs751352134 |
74 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6380441 rs754835864 |
75 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1384310396 CA383312496 |
76 | V>M | No |
ClinGen gnomAD |
|
|
rs1168125595 CA383312514 |
77 | D>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 78 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs187022621 CA6380442 |
78 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383312560 rs1308131980 |
79 | H>Y | No |
ClinGen gnomAD |
|
|
CA383312704 rs1217751907 |
86 | Q>* | No |
ClinGen gnomAD |
|
|
CA6380444 rs757547766 |
87 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 90 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147742534 CA6380447 |
91 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA231463897 rs147742534 |
91 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 92 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1592046661 CA383312933 |
93 | H>N | No |
ClinGen Ensembl |
|
|
rs758524548 CA6380465 |
93 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA383312953 rs1354575958 |
94 | D>G | No |
ClinGen gnomAD |
|
|
rs747558794 CA6380467 |
94 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366427940 CA383312984 |
96 | D>E | No |
ClinGen gnomAD |
|
|
rs1443956387 CA383312971 |
96 | D>H | No |
ClinGen gnomAD |
|
|
CA6380468 rs755439037 |
96 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1331438241 CA383312995 |
97 | Q>H | No |
ClinGen TOPMed |
|
|
CA6380469 rs781598588 |
99 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA383313007 rs781598588 |
99 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA383313025 rs1284940436 |
100 | S>G | No |
ClinGen gnomAD |
|
|
CA6380470 rs748491154 |
100 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1592046695 RCV000994760 |
102 | N>missing | No |
ClinVar dbSNP |
|
|
rs1016334673 CA231464622 |
102 | N>H | No |
ClinGen Ensembl |
|
|
rs1217865518 CA383313059 |
102 | N>K | No |
ClinGen gnomAD |
|
|
CA383313055 rs1384698155 |
102 | N>S | No |
ClinGen TOPMed |
|
|
rs769477950 CA6380471 |
104 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA6380472 rs772884772 |
105 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs770477225 CA6380474 |
107 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773727765 CA6380475 |
108 | W>* | No |
ClinGen ExAC |
|
|
rs1592046710 CA383313132 |
108 | W>G | No |
ClinGen Ensembl |
|
|
CA6380477 rs772112858 |
109 | N>K | No |
ClinGen ExAC gnomAD |
|
|
COSM1299762 rs759575390 CA6380476 |
109 | N>S | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6380478 rs373155570 |
111 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6380480 rs763929364 |
113 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6380479 rs760574868 |
113 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6380481 rs377035350 |
115 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs199595336 CA6380483 |
117 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769595274 CA6380521 |
119 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6380520 rs146905079 |
119 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6380522 rs774463744 |
120 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA6380523 rs759699324 |
120 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6380524 rs148339739 |
121 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1184336 rs141528374 CA6380525 |
121 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs141528374 CA383315569 |
121 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141528374 CA383315568 |
121 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1195844229 CA383315576 |
122 | A>D | No |
ClinGen gnomAD |
|
|
CA6380526 rs761215985 |
123 | N>S | No |
ClinGen ExAC |
|
|
CA6380527 rs764473836 |
124 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6380528 rs754327263 |
126 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300363125 CA383315650 |
130 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1399029656 CA383315668 |
133 | S>N | No |
ClinGen TOPMed |
|
|
CA6380530 rs765578298 |
133 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA231469408 rs746859237 |
135 | I>L | No |
ClinGen gnomAD |
|
|
rs201835778 CA6380533 |
137 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755006134 CA6380535 |
140 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA383315743 rs1592051157 |
141 | N>D | No |
ClinGen Ensembl |
|
|
rs1227273922 CA383315749 |
141 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA383315748 rs1227273922 |
141 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1302957056 CA383315804 |
146 | L>P | No |
ClinGen gnomAD |
|
|
rs1592051176 CA383315812 |
147 | Y>S | No |
ClinGen Ensembl |
|
|
rs538815093 CA6380540 |
149 | H>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 149 | H>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA231469442 rs573970193 |
149 | H>R | No |
ClinGen gnomAD |
|
|
COSM1362735 CA6380556 rs756076751 |
151 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA231469722 rs201901859 COSM1362736 |
151 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA383315896 rs1315357873 |
152 | T>P | No |
ClinGen gnomAD |
|
|
rs762895940 CA231469725 |
153 | T>A | No |
ClinGen Ensembl |
|
|
CA6380557 rs777590931 |
154 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237760691 CA383315923 |
155 | R>G | No |
ClinGen gnomAD |
|
|
CA231469755 rs769139954 |
157 | L>V | No |
ClinGen gnomAD |
|
|
CA6380559 rs770668523 |
159 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383315972 rs770668523 |
159 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780272711 CA6380560 |
160 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA6380561 rs747176543 |
162 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6380562 rs543480116 |
162 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383315998 rs543480116 |
162 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383316038 rs1446612555 |
164 | T>I | No |
ClinGen gnomAD |
|
|
CA383316064 CA383316061 rs1436286804 |
165 | N>K | No |
ClinGen TOPMed |
|
|
CA383316075 rs1157374577 |
166 | Y>C | No |
ClinGen gnomAD |
|
|
CA6380564 rs377130301 |
169 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6380565 rs770313678 |
169 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA383316138 rs1400651359 |
171 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1400651359 CA383316141 |
171 | F>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 174 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1592051463 CA383316198 |
175 | H>P | No |
ClinGen Ensembl |
|
|
rs763442649 CA6380567 |
175 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766805030 CA6380569 |
176 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306051806 CA383316241 |
178 | T>I | No |
ClinGen gnomAD |
|
|
rs1031639030 CA231469838 |
179 | D>A | No |
ClinGen TOPMed |
|
|
CA231438698 rs187768536 |
181 | K>E | No |
ClinGen 1000Genomes |
|
|
CA231438707 rs919038072 |
181 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs565287788 CA231438712 |
182 | I>V | No |
ClinGen 1000Genomes |
|
|
rs1217508362 CA383301906 |
183 | Q>E | No |
ClinGen TOPMed |
|
|
rs765622838 CA231438729 |
187 | A>T | No |
ClinGen Ensembl |
|
|
rs1432045505 CA383301959 |
190 | D>E | No |
ClinGen gnomAD |
|
|
CA6380594 rs148008995 |
192 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6380595 rs541536639 |
192 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1463142882 CA383301977 |
193 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs748270964 CA6380599 |
199 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383302041 rs201005981 |
202 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA231438757 rs201005981 |
202 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs771554865 CA6380603 |
209 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149559046 CA6380604 |
210 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149559046 CA383302090 |
210 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383302097 rs1223684206 |
211 | V>A | No |
ClinGen gnomAD |
|
|
CA6380606 rs772271438 |
212 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs760178761 CA6380608 TCGA novel |
213 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs778059394 CA383302131 |
215 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA231439513 rs892377047 |
215 | G>R | No |
ClinGen TOPMed |
|
|
CA6380618 rs778059394 |
215 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383302144 rs1400065572 |
217 | E>G | No |
ClinGen gnomAD |
|
|
CA383302155 rs1318941016 |
218 | W>* | No |
ClinGen gnomAD |
|
|
rs1346891640 CA383302160 |
219 | T>A | No |
ClinGen gnomAD |
|
|
CA6380619 rs749360034 |
220 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383302173 rs1453606687 |
221 | P>L | No |
ClinGen gnomAD |
|
|
rs1376974332 CA383302171 |
221 | P>S | No |
ClinGen TOPMed |
|
|
CA383302196 rs1349040932 |
224 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs577640123 CA231439532 |
225 | G>R | No |
ClinGen 1000Genomes |
|
|
CA383302220 rs1353208908 |
228 | R>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 229 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201528201 CA6380620 |
235 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1425643728 CA383302273 |
236 | S>C | No |
ClinGen TOPMed |
|
|
rs930212337 CA231439555 |
236 | S>N | No |
ClinGen gnomAD |
|
|
rs1002125293 CA231440625 |
241 | H>Y | No |
ClinGen TOPMed |
|
|
CA6380637 rs199845960 |
242 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6380638 rs756456841 |
242 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6380639 rs764439974 |
246 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA231440656 rs960733369 |
249 | H>Y | No |
ClinGen Ensembl |
|
|
rs757422478 CA6380641 |
253 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6380642 rs77079055 |
254 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758817709 CA6380644 |
257 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6380646 rs747342036 |
259 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM2151231 rs780455486 CA6380664 |
264 | R>* | central_nervous_system Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1592053871 CA383302780 |
264 | R>Q | No |
ClinGen Ensembl |
|
|
rs11063529 VAR_027843 CA6380666 |
265 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs374755766 CA6380665 |
265 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs781469775 CA6380668 |
266 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6380669 rs376621948 |
267 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs777394109 CA6380670 |
268 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs141391152 CA6380671 |
269 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6380672 rs770423770 |
270 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs774440618 CA6380673 |
270 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA383302903 rs759475069 |
275 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6380674 rs759475069 |
275 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459751834 CA383302923 |
276 | D>G | No |
ClinGen gnomAD |
|
|
rs1386202768 CA383302917 |
276 | D>H | No |
ClinGen gnomAD |
|
|
rs146986730 CA6380677 COSM942573 |
282 | L>F | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA6380678 rs765344595 |
282 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA383303000 rs1380125738 |
283 | F>L | No |
ClinGen gnomAD |
|
|
rs1171248395 CA383303118 |
286 | E>K | No |
ClinGen gnomAD |
|
|
CA6380700 rs142628932 |
287 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA383303126 rs1484328640 |
287 | T>S | No |
ClinGen gnomAD |
|
|
rs1229682207 CA383303145 |
290 | Q>E | No |
ClinGen TOPMed |
|
| TCGA novel | 290 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6380702 rs202040345 |
290 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA231442416 rs935013088 |
291 | M>I | No |
ClinGen gnomAD |
|
|
rs774404654 CA6380704 |
292 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA6380703 rs766513532 |
292 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176139834 CA383303165 |
293 | E>K | No |
ClinGen gnomAD |
|
|
rs760087546 CA6380705 |
295 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1413949134 CA383303180 |
295 | G>R | No |
ClinGen gnomAD |
|
|
CA383303186 rs1592054775 |
296 | H>Y | No |
ClinGen Ensembl |
|
|
CA383303227 rs1226849380 |
300 | T>I | No |
ClinGen TOPMed |
|
|
rs767985481 CA6380706 |
300 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA383303236 rs1297415203 |
301 | A>G | No |
ClinGen gnomAD |
|
|
rs1310790201 CA383303245 |
302 | A>D | No |
ClinGen gnomAD |
|
|
rs1219126307 CA383303276 |
305 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA383303307 rs374783922 |
307 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6380708 rs374783922 |
307 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1006481230 CA231442479 |
308 | S>C | No |
ClinGen TOPMed |
|
|
CA6380710 rs144196893 |
309 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1281371039 CA383303326 |
309 | N>S | No |
ClinGen gnomAD |
|
|
CA6380711 rs756953593 |
310 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778613471 CA6380712 |
310 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA231442505 rs1050253589 |
313 | R>G | No |
ClinGen Ensembl |
|
|
CA383303363 rs1202638192 |
313 | R>K | No |
ClinGen gnomAD |
|
|
CA6380713 rs745338111 |
317 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1015447030 CA231442520 |
318 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs746908602 CA6380716 |
319 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248291350 CA383303439 |
320 | D>G | No |
ClinGen TOPMed |
|
|
CA6380719 rs369735066 CA6380718 |
321 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768340763 CA6380717 |
321 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6380720 rs771122248 |
322 | L>P | No |
ClinGen ExAC gnomAD |
|
|
COSM694765 rs768914293 CA6380723 |
323 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs759647929 CA6380722 |
323 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210631643 CA383303485 |
325 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1300996509 CA383303490 |
325 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6380724 rs775861247 |
327 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1031352067 CA231442572 |
327 | R>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 328 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1592054852 CA383303521 |
329 | T>P | No |
ClinGen Ensembl |
|
|
rs1349060333 CA383303553 |
332 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6380726 rs764421029 |
332 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6380755 rs199925734 |
333 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6380756 rs199925734 |
333 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1353726945 CA383303639 |
334 | P>T | No |
ClinGen TOPMed |
|
|
rs1592055439 CA383303674 |
336 | I>T | No |
ClinGen Ensembl |
|
|
CA231443616 rs141135800 |
337 | P>R | No |
ClinGen ESP |
|
|
rs879083731 CA231443625 |
339 | S>L | No |
ClinGen Ensembl |
|
|
CA231443619 rs879083731 |
339 | S>W | No |
ClinGen Ensembl |
|
|
CA383303718 rs1449226867 |
340 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs368156322 CA6380759 |
340 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6380760 rs144889879 |
342 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6380761 rs186841043 |
342 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747142418 CA6380762 |
343 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs777208563 CA6380764 |
344 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770350846 CA6380766 |
346 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs369763840 CA231443675 |
348 | C>Y | No |
ClinGen ESP TOPMed |
|
|
rs267603543 CA231443682 |
349 | P>S | No |
ClinGen Ensembl |
|
|
rs191679082 CA6380767 |
351 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762745746 CA6380768 |
351 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA231443703 rs191679082 |
351 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1230914023 CA383303849 |
352 | P>S | No |
ClinGen gnomAD |
|
|
CA6380769 rs766025363 |
354 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469417269 CA383303885 |
354 | Y>D | No |
ClinGen gnomAD |
|
|
CA6380771 rs759112894 |
356 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6380772 rs747419605 |
357 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs756028898 CA6380774 |
362 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs143781587 CA6380773 |
362 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763923882 CA6380775 |
363 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6380776 rs753595445 |
363 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409570416 CA383304042 |
365 | Q>R | No |
ClinGen gnomAD |
|
|
CA6380778 rs756960351 |
367 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs575139341 CA6380779 |
368 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1228870615 CA383304706 |
371 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA383304791 rs1592055990 |
376 | Y>S | No |
ClinGen Ensembl |
|
|
rs1267939470 CA383304815 |
377 | P>L | No |
ClinGen gnomAD |
|
|
CA383304821 rs1452327709 |
378 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA6380797 rs751875145 |
378 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs755142428 CA6380798 |
379 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA6380799 rs753598270 |
380 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA231444620 rs1003242519 |
381 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs772044550 CA231444635 |
381 | T>I | No |
ClinGen gnomAD |
|
|
rs772044550 CA231444630 |
381 | T>N | No |
ClinGen gnomAD |
|
|
rs1003242519 CA383304863 |
381 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs200173452 CA6380800 |
382 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781629095 CA6380801 |
382 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383304886 rs781629095 |
382 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383304920 rs946517362 |
385 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA231444664 rs946517362 |
385 | H>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 387 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383304965 rs1406613825 |
389 | H>N | No |
ClinGen gnomAD |
|
|
CA6380806 rs771335661 |
390 | N>K | No |
ClinGen ExAC |
|
|
CA6380805 rs749704792 |
390 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6380807 rs373103860 |
391 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 392 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383305096 rs1266024801 |
398 | A>T | No |
ClinGen gnomAD |
|
|
rs760198035 CA6380812 |
402 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383305159 rs1266272843 |
402 | D>N | No |
ClinGen gnomAD |
|
|
CA383305187 rs1250128533 |
403 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA383305184 rs776554314 |
403 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6380845 rs746721365 |
404 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1007016469 CA231445186 |
405 | S>G | No |
ClinGen gnomAD |
|
|
CA6380846 rs754603338 |
406 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs547253968 CA231445221 |
410 | I>M | No |
ClinGen 1000Genomes |
|
|
CA6380848 rs747643849 |
411 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA383305460 rs7298766 |
411 | K>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_027844 rs7298766 CA6380849 |
411 | K>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1592056316 CA383305481 |
412 | I>M | No |
ClinGen Ensembl |
|
|
CA6380850 rs773040106 |
412 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs749173632 CA6380851 |
413 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6380852 rs770919406 |
415 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA383305542 rs1483631615 |
416 | E>G | No |
ClinGen gnomAD |
|
|
rs773681611 CA231445275 |
418 | Q>E | No |
ClinGen Ensembl |
|
|
rs200419024 CA6380853 |
418 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383305590 rs1422388415 |
419 | G>R | No |
ClinGen gnomAD |
|
|
CA383305615 rs1592056335 |
420 | L>R | No |
ClinGen Ensembl |
|
|
CA6380854 rs145057819 |
421 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA231445289 rs764251022 |
422 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764251022 CA6380855 |
422 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776861143 CA6380856 |
422 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763297765 CA231445307 |
423 | P>Q | No |
ClinGen Ensembl |
|
|
rs765292156 CA383305653 |
423 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs765292156 CA6380858 |
423 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs750957461 CA6380859 |
424 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6380872 rs370295905 |
424 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6380873 rs776720567 |
425 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 427 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1297113148 CA383306696 |
428 | N>H | No |
ClinGen gnomAD |
|
|
rs762088661 CA6380874 |
429 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 430 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383306765 rs1161096864 |
431 | E>K | No |
ClinGen TOPMed |
|
|
CA231449017 rs901045668 |
435 | Y>C | No |
ClinGen Ensembl |
|
|
rs140265583 CA6380876 |
435 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs550860404 CA6380879 |
437 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755300147 CA6380881 |
439 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs35419938 CA6380882 RCV000954731 |
441 | E>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1592056738 CA383307006 |
441 | E>K | No |
ClinGen Ensembl |
|
|
CA383307041 rs755783735 |
442 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6380885 rs755783735 |
442 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383307027 rs752346605 |
442 | T>P | No |
ClinGen ExAC TOPMed |
|
|
CA6380884 rs752346605 |
442 | T>S | No |
ClinGen ExAC TOPMed |
|
|
rs777184832 CA6380886 |
443 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA231449066 rs887087417 |
443 | P>S | No |
ClinGen Ensembl |
|
|
rs753424814 CA6380887 |
444 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753424814 CA383307083 |
444 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383307138 rs1265235287 |
446 | N>S | No |
ClinGen TOPMed |
|
|
CA383307154 rs1424092894 |
447 | N>T | No |
ClinGen Ensembl |
|
|
rs756791907 CA6380889 |
448 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756791907 CA383307180 |
448 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6380890 rs779001730 |
448 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs1379110297 CA383307246 |
452 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
rs771821752 CA6380892 |
453 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA383307253 rs1285508769 |
453 | L>P | No |
ClinGen TOPMed |
|
|
rs199644183 CA6380894 |
454 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199644183 CA383307258 |
454 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1002501080 CA231449110 |
459 | P>L | No |
ClinGen gnomAD |
|
|
rs1002501080 CA383307325 |
459 | P>R | No |
ClinGen gnomAD |
|
|
CA6380896 rs773373142 |
459 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA6380900 rs760071815 |
466 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760071815 CA6380901 |
466 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763874087 CA6380904 |
467 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA6380903 rs760289488 |
467 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6380906 rs756843302 |
470 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA231449182 rs753477715 |
470 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs753477715 CA6380905 |
470 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA6380908 rs750396265 |
471 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs544500279 CA6380910 |
471 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs750396265 CA6380909 |
471 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746843314 CA6380911 |
472 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6380912 rs768295582 |
473 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6380913 rs777975379 |
473 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs777975379 CA6380914 COSM942590 |
473 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs771054556 CA6380915 |
474 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs774406879 CA6380916 |
475 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6380918 rs138103066 |
476 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6380917 rs372831242 |
476 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760572522 CA231449230 |
480 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775824448 CA383307623 |
480 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775824448 CA6380920 |
480 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760572522 CA6380921 |
480 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA231449231 rs11615999 |
481 | Q>H | No |
ClinGen Ensembl |
|
|
rs375520881 CA6380924 |
483 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375520881 CA6380923 |
483 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764497678 CA6380922 |
483 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383307672 rs1471180121 |
484 | E>K | No |
ClinGen gnomAD |
|
|
CA383307700 rs764881611 |
485 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs764881611 CA6380925 |
485 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1424706452 CA383307711 |
485 | G>V | No |
ClinGen gnomAD |
|
|
rs757797741 CA6380927 |
486 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA383307728 rs1409703841 |
488 | A>T | No |
ClinGen gnomAD |
|
|
rs751386462 CA6380929 |
489 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs149506391 CA383307798 |
491 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149506391 CA6380930 |
491 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6380931 rs780950885 |
492 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780950885 CA383307820 |
492 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1606512 CA6380932 rs144085398 |
493 | R>Q | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1345217249 CA383307826 |
493 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA231449281 rs933858790 |
494 | N>S | No |
ClinGen Ensembl |
|
|
CA6380934 rs368386240 |
497 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA231449311 rs941327582 |
498 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6380936 rs745978354 |
500 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs868597629 CA231449316 |
501 | G>R | No |
ClinGen Ensembl |
|
|
rs771983109 CA6380937 |
502 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148665138 CA6380939 |
503 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383307992 rs148665138 |
503 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6380938 rs776081251 |
503 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs889414793 CA231449326 |
504 | S>G | No |
ClinGen TOPMed |
|
|
rs1169674047 CA383308015 |
505 | H>N | No |
ClinGen Ensembl |
|
|
rs560606072 CA6380941 |
505 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs111368596 CA6380943 |
506 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6380942 rs111368596 |
506 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6380944 rs772699641 |
507 | P>L | No |
ClinGen ExAC |
|
|
CA6380945 rs762528134 |
508 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6380946 rs762528134 |
508 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs751570530 CA6380947 |
509 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1322259813 CA383308126 |
510 | Q>P | No |
ClinGen gnomAD |
|
|
CA231449413 rs1040943953 |
515 | K>T | No |
ClinGen TOPMed |
|
|
CA6380951 rs755849468 |
518 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6380950 rs752463690 |
518 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs71447497 CA231449418 |
520 | P>L | No |
ClinGen Ensembl |
|
|
rs1228846392 CA383308336 |
521 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA6380952 rs779204536 |
521 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 521 | E>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6380953 rs746022844 |
522 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs561051504 CA231449445 |
523 | S>G | No |
ClinGen 1000Genomes |
|
|
CA383308353 rs1354084619 |
523 | S>R | No |
ClinGen gnomAD |
|
|
rs1592056950 CA383308355 |
524 | Q>K | No |
ClinGen Ensembl |
|
|
CA383308408 rs1208167242 |
526 | S>A | No |
ClinGen gnomAD |
|
|
rs139421625 CA6380954 |
528 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6380957 rs550087703 |
530 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6380956 rs747560567 |
530 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6380958 rs777230403 |
531 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA383308529 rs1189549878 |
534 | P>A | No |
ClinGen gnomAD |
|
|
CA231449475 rs151321644 |
536 | H>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs151321644 CA6380959 RCV000954732 |
536 | H>Y | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6380960 rs770216264 |
537 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6380961 rs772930453 |
537 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6380962 rs762498456 |
540 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1592056980 CA383308616 |
540 | N>T | No |
ClinGen Ensembl |
|
|
CA6380964 rs538602708 |
542 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1363471043 CA383308681 |
544 | M>K | No |
ClinGen TOPMed |
|
|
rs759515420 CA6380965 |
544 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1435546669 CA383308716 |
546 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6380966 CA6380967 rs1555159432 |
546 | G>R | No |
ClinGen Ensembl |
|
|
CA6380971 rs150035602 |
547 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383308723 rs1338419098 |
547 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 548 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1235198826 CA383308783 |
551 | P>S | No |
ClinGen gnomAD |
|
|
rs750727320 CA6380974 |
552 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs188022936 CA6380975 |
553 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6380977 rs751712605 |
556 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA6380978 rs755069435 |
557 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1156229515 CA383308906 |
558 | K>N | No |
ClinGen gnomAD |
|
|
CA6380979 rs201931277 |
558 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 560 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145300432 CA6380981 |
564 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1592057030 CA383308965 |
565 | V>G | No |
ClinGen Ensembl |
|
|
CA6380982 rs573873637 |
565 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383308971 rs1442988647 |
566 | E>V | No |
ClinGen TOPMed |
|
|
CA6380984 rs145036381 |
567 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6380983 rs145036381 |
567 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1308672228 CA383308990 |
569 | I>S | No |
ClinGen TOPMed |
|
|
CA6380988 rs374799826 |
569 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6380991 rs775467784 |
570 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA231449584 rs926073115 |
570 | A>V | No |
ClinGen TOPMed |
|
|
CA383309010 rs1328544429 |
571 | E>D | No |
ClinGen gnomAD |
|
|
CA6380992 rs749731187 |
571 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749731187 CA231449602 |
571 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757838238 CA383309054 |
574 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA231449612 rs757838238 |
574 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6380993 rs763992260 |
574 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA383309065 rs1343378415 |
575 | G>A | No |
ClinGen gnomAD |
|
|
rs753555258 CA383309092 |
578 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs753555258 CA6380994 |
578 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs578203139 CA6380995 |
579 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6380997 rs371561418 |
579 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371561418 CA6380998 |
579 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs578203139 CA6380996 |
579 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA383309143 rs1419121467 |
582 | A>D | No |
ClinGen gnomAD |
|
|
rs1327166045 CA383309137 |
582 | A>T | No |
ClinGen gnomAD |
|
|
rs1419121467 CA383309147 |
582 | A>V | No |
ClinGen gnomAD |
|
|
CA6381002 rs143675586 |
584 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6381003 rs749634039 |
585 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771282542 CA6381004 |
585 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs778538055 CA6381005 |
586 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs745509843 CA6381006 |
587 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1592057114 CA383309188 |
588 | H>P | No |
ClinGen Ensembl |
|
|
rs771641178 CA6381007 |
590 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1592057117 CA383309204 |
590 | E>G | No |
ClinGen Ensembl |
|
|
rs771641178 CA383309199 |
590 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA383309219 rs1592057121 |
591 | E>G | No |
ClinGen Ensembl |
|
|
rs774952065 CA6381008 |
591 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592057123 CA383309235 |
592 | E>G | No |
ClinGen Ensembl |
|
|
CA383309253 rs1592057125 |
593 | V>G | No |
ClinGen Ensembl |
|
|
CA383309263 rs1592057127 |
594 | V>G | No |
ClinGen Ensembl |
|
|
CA6381009 rs148059237 |
595 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6381012 rs761519214 |
596 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6381011 rs776592161 |
596 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6381014 rs202219145 |
597 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6381013 rs202219145 |
597 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759825573 CA6381015 |
598 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs141761799 CA6381016 |
600 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 600 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383309360 rs1264838422 |
603 | V>G | No |
ClinGen gnomAD |
|
|
rs752799620 CA6381018 |
604 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1194054369 CA383309381 |
605 | G>R | No |
ClinGen gnomAD |
|
|
CA383309392 rs1427573118 |
606 | E>K | No |
ClinGen gnomAD |
|
|
CA383309427 rs1167944579 |
608 | E>D | No |
ClinGen gnomAD |
|
|
CA6381019 rs756167272 |
608 | E>Q | No |
ClinGen ExAC |
|
|
CA383309431 rs1354975879 |
609 | G>R | No |
ClinGen gnomAD |
|
|
CA383309448 rs764535507 |
610 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA6381020 rs764535507 |
610 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs779249903 CA6381024 |
612 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA6381023 rs757624107 |
612 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6381025 rs745562877 |
614 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6381026 rs758027613 |
615 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1254292320 CA383309530 |
616 | E>G | No |
ClinGen gnomAD |
|
|
CA383309549 rs1403123915 |
618 | M>T | No |
ClinGen TOPMed |
|
|
CA383309545 rs1308532288 |
618 | M>V | No |
ClinGen gnomAD |
|
|
CA231449754 rs772138831 |
622 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6381030 rs531502676 |
623 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs531502676 CA231449768 |
623 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6381032 rs748102597 |
625 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161681008 CA383309679 |
627 | V>M | No |
ClinGen TOPMed |
|
|
rs373238426 CA6381036 |
630 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA231449795 rs373238426 |
630 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6381035 rs376341221 |
630 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6381038 rs374281762 |
631 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1592057231 CA383309724 |
631 | V>I | No |
ClinGen Ensembl |
|
|
rs1316367881 CA383309753 |
634 | W>R | No |
ClinGen gnomAD |
|
|
rs1441995251 CA383309801 |
636 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs764173019 CA6381039 |
637 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA231449824 rs764173019 |
637 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1363300833 CA383309857 |
640 | A>G | No |
ClinGen gnomAD |
|
|
rs757755431 CA383309854 |
640 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6381041 rs757755431 |
640 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA231449862 rs150169248 |
641 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6381043 rs138791810 |
641 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6381042 rs150169248 |
641 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369288672 CA6381046 |
644 | D>N | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1592057270 CA383309931 |
645 | F>L | No |
ClinGen Ensembl |
|
|
CA383309977 rs1207900689 |
649 | R>S | No |
ClinGen gnomAD |
|
|
rs780748415 CA6381049 |
651 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs748074776 CA6381051 |
653 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1180114936 CA383310032 |
654 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA383310061 rs1412962745 |
656 | S>R | No |
ClinGen gnomAD |
|
|
CA6381052 rs773231973 |
660 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6381053 rs749123156 |
662 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1158631584 CA383310182 |
666 | P>S | No |
ClinGen gnomAD |
|
|
CA383310205 rs1274557026 |
668 | Q>* | No |
ClinGen gnomAD |
|
|
CA6381058 rs776752316 |
670 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1294540814 CA383310274 |
674 | T>M | No |
ClinGen gnomAD |
|
|
CA6381061 rs199814733 |
675 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6381062 rs201200536 |
675 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766717726 CA383310279 |
676 | V>F | No |
ClinGen ExAC |
|
|
CA6381064 rs766717726 |
676 | V>I | No |
ClinGen ExAC |
|
|
CA6381067 rs751237309 |
677 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA383310381 rs1486028921 |
683 | Q>* | No |
ClinGen TOPMed |
|
|
rs754627538 CA6381068 |
684 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6381070 rs752273225 |
685 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA383310409 rs1485937560 |
685 | S>T | No |
ClinGen gnomAD |
|
|
rs547865214 CA383310412 |
686 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747740267 CA6381072 |
686 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs547865214 CA6381071 |
686 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6381074 rs190177099 |
687 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6381107 rs763748910 |
688 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA231452731 rs914815703 |
689 | Y>C | No |
ClinGen Ensembl |
|
|
CA231452733 rs968872890 |
692 | Q>* | No |
ClinGen gnomAD |
|
|
CA383312317 rs1264516865 |
692 | Q>H | No |
ClinGen gnomAD |
|
|
CA6381108 rs756686272 |
693 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6381109 rs142955460 COSM431687 |
693 | R>H | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs142955460 CA6381110 |
693 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6381112 rs779711308 |
694 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1290944456 CA383312366 |
695 | V>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 696 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6381114 CA231452751 rs377572361 |
697 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377572361 CA231452750 |
697 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6381116 rs149737676 |
700 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6381117 rs149737676 |
700 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM942616 rs774931975 CA6381118 |
700 | R>H | endometrium Variant assessed as Somatic; 4.628e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs774931975 CA383312452 |
700 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774931975 CA383312449 |
700 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149737676 CA383312441 |
700 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6381120 rs772551393 |
702 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6381121 rs140115052 |
704 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs192118846 CA6381122 |
705 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs143828393 CA6381124 |
705 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143828393 CA6381125 |
705 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143828393 CA383312564 |
705 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6381123 rs192118846 |
705 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383312584 rs1370195690 |
706 | G>E | No |
ClinGen TOPMed |
|
|
CA6381126 rs764641287 |
708 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6381127 rs750443012 |
708 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1391631855 CA383312638 |
710 | L>I | No |
ClinGen TOPMed |
|
|
rs1262915041 CA383312676 |
712 | E>A | No |
ClinGen gnomAD |
|
|
CA6381128 rs146811557 |
713 | L>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA231452833 rs146811557 |
713 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA383312741 rs1486308956 |
715 | L>P | No |
ClinGen gnomAD |
|
|
rs754728118 CA6381131 |
718 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA383312818 rs1193500867 |
719 | G>S | No |
ClinGen gnomAD |
|
|
rs1419252301 CA383312843 |
720 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs777975495 CA6381132 |
721 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140633399 CA6381133 |
721 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383312873 rs1377139254 |
722 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs778851588 CA6381135 |
722 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA231452904 rs367750242 |
723 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs372632839 CA6381137 |
724 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145153320 CA6381136 |
724 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6381138 rs567579470 |
726 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769087412 CA6381140 |
728 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA231452949 rs761368019 |
732 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6381142 rs761368019 |
732 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199639504 CA6381143 |
732 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6381144 rs772572885 |
734 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs368954077 CA6381145 |
735 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1375802413 CA383313037 |
737 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA231452995 rs928936186 |
738 | D>G | No |
ClinGen gnomAD |
|
|
rs923034780 CA231452988 |
738 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6381148 rs759335521 |
739 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383313099 rs767282045 |
742 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767282045 CA6381149 |
742 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6381150 rs571278822 |
743 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6381151 rs372079408 |
744 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA383313139 rs1592059274 |
745 | V>G | No |
ClinGen Ensembl |
|
|
CA6381152 rs779151131 |
745 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6381155 rs780722946 |
746 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs553861974 CA6381154 |
746 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs747505365 CA6381156 |
747 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6381158 rs534141372 |
748 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs113571884 CA6381157 |
748 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747885324 CA6381160 |
749 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA6381161 rs201583507 |
749 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000950773 rs138955406 CA6381164 |
752 | G>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1236004459 CA383313225 |
753 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs774326996 CA6381165 |
756 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 759 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6381166 rs759461851 |
759 | N>S | No |
ClinGen ExAC gnomAD |
|
|
COSM942618 rs373185758 CA6381167 |
760 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs760482360 CA6381169 |
760 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6381168 rs373185758 |
760 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383313326 rs1262270730 |
765 | L>P | No |
ClinGen gnomAD |
|
|
CA6381170 rs765385424 |
767 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1592059307 CA383313338 |
767 | T>P | No |
ClinGen Ensembl |
|
|
rs11063570 CA6381172 VAR_048717 |
768 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs142795725 CA6381171 |
768 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138011021 CA6381174 |
771 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781690399 CA6381176 |
772 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201619409 CA6381175 |
772 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA231453246 rs891881042 |
773 | K>N | No |
ClinGen gnomAD |
|
|
CA383313385 rs1565612354 |
775 | C>S | No |
ClinGen Ensembl |
|
| TCGA novel | 775 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1401345342 CA383313392 |
776 | W>* | No |
ClinGen gnomAD |
|
|
CA383313403 rs1290953173 |
777 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 777 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6381177 rs748491844 |
778 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777303750 CA6381179 |
779 | G>D | No |
ClinGen ExAC |
|
|
rs756433088 CA6381178 |
779 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA383313425 rs1353832123 |
780 | F>L | No |
ClinGen TOPMed |
|
|
CA6381180 rs748922508 |
781 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA231453294 rs748922508 |
781 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1565612371 CA383313427 |
781 | S>P | No |
ClinGen Ensembl |
|
|
rs770492282 CA6381181 |
783 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1261271397 CA383313463 |
783 | S>R | No |
ClinGen gnomAD |
|
|
CA383313469 rs1592059338 |
784 | H>P | No |
ClinGen Ensembl |
|
|
CA231453310 rs904545226 |
784 | H>Y | No |
ClinGen Ensembl |
|
|
rs773816653 CA6381182 |
785 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383313479 rs773816653 |
785 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6381183 rs200514267 |
785 | R>Q | Variant assessed as Somatic; 4.682e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs141658973 CA6381185 |
787 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1416161082 CA383313516 |
788 | V>F | No |
ClinGen gnomAD |
|
|
rs267603554 CA6381187 |
789 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6381189 rs545149712 |
791 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383313565 rs1311583893 |
792 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1192097137 CA383314596 |
794 | V>A | No |
ClinGen gnomAD |
|
|
CA383313585 rs1472999804 |
794 | V>M | No |
ClinGen TOPMed |
|
|
rs754220888 CA6381217 |
799 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6381218 rs150539304 |
799 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6381219 rs778552694 |
800 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA383314717 rs750066028 |
801 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs750066028 CA6381220 |
801 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs757916516 CA6381222 |
802 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6381221 rs757916516 |
802 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA383314760 rs1196841364 |
802 | Q>R | No |
ClinGen TOPMed |
|
|
rs1592059800 CA383314859 |
805 | I>L | No |
ClinGen Ensembl |
|
|
CA383314885 rs1258943401 |
806 | K>R | No |
ClinGen TOPMed |
|
|
CA6381225 rs781238076 |
807 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6381226 rs547928240 |
808 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1438605265 CA383314943 |
809 | E>G | No |
ClinGen gnomAD |
|
|
rs961347653 CA231454344 |
811 | L>V | No |
ClinGen TOPMed |
|
|
CA383315048 rs1335701132 |
816 | G>D | No |
ClinGen TOPMed |
|
|
CA6381229 rs759799839 |
816 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 817 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775615038 CA6381231 |
818 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs181169489 CA6381230 |
818 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs181169489 CA231454375 |
818 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA231454418 rs979115806 |
819 | H>Y | No |
ClinGen Ensembl |
|
|
CA383315160 rs1252807147 |
821 | N>D | No |
ClinGen gnomAD |
|
|
rs1329987832 CA383315198 |
822 | I>V | No |
ClinGen TOPMed |
|
|
rs139446381 CA6381234 |
823 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762226195 CA6381235 |
827 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1240807526 CA383315332 |
827 | Y>H | No |
ClinGen gnomAD |
|
|
rs952895818 CA231454465 |
830 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA383315435 rs1473050473 |
831 | D>E | No |
ClinGen TOPMed |
|
|
CA383315420 rs1164790693 |
831 | D>N | No |
ClinGen TOPMed |
|
|
CA383315499 rs1237476048 |
835 | E>D | No |
ClinGen TOPMed |
|
|
CA6381236 rs149250843 |
836 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750120863 CA6381237 |
837 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6381240 rs374004631 |
839 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 840 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754381224 CA6381241 |
841 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA383315551 rs143033072 |
842 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs143033072 CA6381242 |
842 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs151134407 CA383315577 |
844 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146146897 CA6381244 COSM1283617 |
844 | R>Q | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs151134407 CA6381243 |
844 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1357514255 CA383315595 |
845 | S>N | No |
ClinGen gnomAD |
|
|
rs1249299035 CA383315732 |
847 | Q>R | No |
ClinGen gnomAD |
|
|
rs200770810 CA6381282 |
849 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383315778 rs1251093923 |
850 | K>E | No |
ClinGen gnomAD |
|
|
rs1565612818 CA383315802 |
851 | L>P | No |
ClinGen Ensembl |
|
|
CA231454969 rs563412665 CA6381284 |
852 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757143845 CA6381283 |
852 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA6381285 rs747305759 |
853 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 855 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745826262 CA231454994 |
857 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1513017 CA6381289 rs143789073 |
857 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA383315868 rs143789073 |
857 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745826262 CA6381288 |
857 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1333841174 CA383315883 |
858 | S>L | No |
ClinGen gnomAD |
|
|
CA6381290 rs773824391 |
861 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA383315977 rs1203768942 |
864 | G>D | No |
ClinGen TOPMed |
|
|
rs749751895 CA383315987 |
865 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA383316000 rs1302583068 |
865 | I>M | No |
ClinGen gnomAD |
|
|
rs749751895 CA6381291 |
865 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6381292 rs771364123 |
866 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs539329065 COSM1362850 CA6381295 |
868 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1592060273 CA383316283 |
870 | D>A | No |
ClinGen Ensembl |
|
|
CA6381314 rs367975617 |
871 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6381316 rs768262474 |
872 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776028443 CA6381317 |
873 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383316401 rs1298108154 |
875 | I>V | No |
ClinGen gnomAD |
|
|
rs1592060291 CA383316524 |
879 | D>A | No |
ClinGen Ensembl |
|
|
CA6381320 rs750305145 |
880 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1565613000 CA383316604 |
882 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1257625381 CA383316683 |
885 | P>S | No |
ClinGen TOPMed |
|
|
CA6381326 rs61730392 |
887 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
rs139704378 CA6381324 |
887 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs753895546 CA6381328 |
890 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201094958 CA6381330 |
893 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6381329 COSM942673 rs374659372 |
893 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs150201493 CA231455774 |
894 | K>N | No |
ClinGen ESP gnomAD |
|
|
CA6381331 rs746362499 |
894 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA383316927 rs1182641610 |
896 | C>R | No |
ClinGen gnomAD |
|
|
CA383317024 rs1169488988 |
900 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 900 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1001938062 CA231455802 |
900 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA383317041 rs1381407478 |
901 | M>V | No |
ClinGen gnomAD |
|
|
rs747329524 CA6381334 |
902 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383317053 rs1421301105 |
902 | A>T | No |
ClinGen TOPMed |
|
|
CA383317065 rs747329524 |
902 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6381337 rs747629142 |
906 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6381336 rs776285493 |
906 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1184335 rs1358051759 CA383317129 |
906 | M>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA383317152 rs1370915687 |
907 | V>A | No |
ClinGen gnomAD |
|
|
CA6381338 rs769337437 |
911 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383317227 rs769337437 |
911 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383317255 rs1355715664 |
912 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs141487675 CA6381340 |
914 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6381342 rs766208200 |
915 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766208200 CA383317318 |
915 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 915 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764226659 CA6381345 |
920 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452734051 CA383317638 |
921 | G>A | No |
ClinGen gnomAD |
|
|
CA6381378 rs778773667 |
922 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA383317702 rs1292374999 |
924 | E>K | No |
ClinGen TOPMed |
|
|
rs1592060705 CA383317742 |
925 | V>G | No |
ClinGen Ensembl |
|
|
rs138075137 CA6381379 |
925 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1215871369 CA383317791 |
928 | F>L | No |
ClinGen TOPMed |
|
|
rs1215871369 CA383317789 |
928 | F>V | No |
ClinGen TOPMed |
|
|
COSM468794 rs370365454 CA6381381 |
929 | G>R | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA383317893 rs1407075509 |
932 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1391162321 CA383317881 |
932 | G>S | No |
ClinGen gnomAD |
|
|
CA383317961 rs1316130043 |
935 | K>R | No |
ClinGen gnomAD |
|
|
CA6381386 rs766565882 |
939 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs377461439 CA6381387 |
940 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6381389 rs767860342 |
941 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271951099 CA383319641 |
941 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6381390 rs753133618 |
942 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 943 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383319685 rs1592060740 |
943 | G>C | No |
ClinGen Ensembl |
|
|
CA6381392 rs777415937 |
943 | G>D | No |
ClinGen ExAC |
|
|
CA231456896 rs1046486909 |
945 | N>S | No |
ClinGen Ensembl |
|
|
CA6381394 rs756825739 |
947 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs778453462 CA6381395 |
948 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs999535374 CA383319816 |
950 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA383319815 rs999535374 |
950 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6381396 rs112805900 |
950 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383319836 rs1186389996 |
951 | D>E | No |
ClinGen gnomAD |
|
|
rs201519663 CA6381397 |
951 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6381398 rs368167265 |
952 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368167265 CA383319840 |
952 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199510861 CA6381399 |
952 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383319845 rs199510861 |
952 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768561857 CA6381400 |
953 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs770967460 CA6381403 |
955 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs570570540 CA6381404 |
958 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1263875100 CA383319921 |
958 | W>R | No |
ClinGen TOPMed |
|
|
CA383319964 rs1362514585 |
961 | L>P | No |
ClinGen gnomAD |
|
|
CA383320131 rs1168793116 |
966 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs149363012 CA6381430 |
967 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6381429 rs149363012 |
967 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383320163 rs1592061798 |
969 | L>P | No |
ClinGen Ensembl |
|
|
CA383320164 rs1592061798 |
969 | L>R | No |
ClinGen Ensembl |
|
|
rs774334939 CA231459714 |
970 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1301422258 CA383320173 |
970 | D>G | No |
ClinGen gnomAD |
|
|
rs751598508 CA6381434 |
970 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6381436 rs141142525 |
971 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6381438 rs571653417 |
973 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6381439 rs779249566 |
973 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201609633 CA6381440 |
975 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383320230 rs1186313875 |
976 | L>P | No |
ClinGen TOPMed |
|
|
CA383320233 rs1200059247 |
977 | R>G | No |
ClinGen gnomAD |
|
|
CA383320251 rs1592061826 |
978 | N>S | No |
ClinGen Ensembl |
|
|
CA6381441 rs772233148 |
981 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA6381444 rs747041543 |
982 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6381443 rs747041543 |
982 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA383320817 rs372552428 |
984 | H>L | No |
ClinGen ESP gnomAD |
|
|
CA231462443 rs372552428 |
984 | H>R | No |
ClinGen ESP gnomAD |
|
|
rs376094504 CA6381447 |
987 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368173091 CA6381448 |
987 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1367066124 CA383320927 |
989 | M>K | No |
ClinGen gnomAD |
|
|
rs1280701785 CA383320924 |
989 | M>L | No |
ClinGen TOPMed |
|
|
rs1367066124 CA383320930 |
989 | M>T | No |
ClinGen gnomAD |
|
|
rs572504018 CA231462462 |
990 | W>* | No |
ClinGen 1000Genomes |
|
|
CA6381449 rs186315225 |
991 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383320968 rs1294626016 |
991 | S>T | No |
ClinGen gnomAD |
|
|
rs766083542 CA6381450 |
992 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_048718 rs36078145 CA6381451 |
992 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs371741815 CA6381452 |
993 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6381453 rs142204676 |
993 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383321009 rs752664727 |
994 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1320871585 CA383321023 |
995 | M>I | No |
ClinGen gnomAD |
|
|
CA383321015 rs1310371116 |
995 | M>K | No |
ClinGen gnomAD |
|
|
CA6381455 rs375018510 |
997 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758570657 CA6381458 |
999 | L>Q | No |
ClinGen ExAC gnomAD |
No associated diseases with Q6L9W6
Functions
| Description | ||
|---|---|---|
| EC Number | 2.4.1.244 | Hexosyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| Golgi cisterna membrane | The lipid bilayer surrounding any of the thin, flattened compartments that form the central portion of the Golgi complex. |
| 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. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| acetylgalactosaminyltransferase activity | Catalysis of the transfer of an N-acetylgalactosaminyl residue from UDP-N-acetyl-galactosamine to an oligosaccharide. |
| N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity | Catalysis of the reaction: UDP-N-acetyl-D-galactosamine + N-acetyl-beta-D-glucosaminyl group = UDP + N-acetyl-beta-D-galactosaminyl-(1->4)-N-acetyl-beta-D-glucosaminyl group. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGSPRAARPP | LLLRPVKLLR | RRFRLLLALA | VVSVGLWTLY | LELVASAQVG | GNPLNRRYGS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| WRELAKALAS | RNIPAVDPHL | QFYHPQRLSL | EDHDIDQGVS | SNSSYLKWNK | PVPWLSEFRG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RANLHVFEDW | CGSSIQQLRR | NLHFPLYPHI | RTTLRKLAVS | PKWTNYGLRI | FGYLHPFTDG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KIQFAIAADD | NAEFWLSLDD | QVSGLQLLAS | VGKTGKEWTA | PGEFGKFRSQ | ISKPVSLSAS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HRYYFEVLHK | QNEEGTDHVE | VAWRRNDPGA | KFTIIDSLSL | SLFTNETFLQ | MDEVGHIPQT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AASHVDSSNA | LPRDEQPPAD | MLRPDPRDTL | YRVPLIPKSH | LRHVLPDCPY | KPSYLVDGLP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LQRYQGLRFV | HLSFVYPNDY | TRLSHMETHN | KCFYQENAYY | QDRFSFQEYI | KIDQPEKQGL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EQPGFEENLL | EESQYGEVAE | ETPASNNQNA | RMLEGRQTPA | STLEQDATDY | RLRSLRKLLA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QPREGLLAPF | SKRNSTASFP | GRTSHIPVQQ | PEKRKQKPSP | EPSQDSPHSD | KWPPGHPVKN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LPQMRGPRPR | PAGDSPRKTQ | WLNQVESYIA | EQRRGDRMRP | QAPGRGWHGE | EEVVAAAGQE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GQVEGEEEGE | EEEEEEDMSE | VFEYVPVFDP | VVNWDQTFSA | RNLDFQALRT | DWIDLSCNTS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GNLLLPEQEA | LEVTRVFLKK | LNQRSRGRYQ | LQRIVNVEKR | QDQLRGGRYL | LELELLEQGQ |
| 730 | 740 | 750 | 760 | 770 | 780 |
| RVVRLSEYVS | ARGWQGIDPA | GGEEVEARNL | QGLVWDPHNR | RRQVLNTRAQ | EPKLCWPQGF |
| 790 | 800 | 810 | 820 | 830 | 840 |
| SWSHRAVVHF | VVPVKNQARW | VQQFIKDMEN | LFQVTGDPHF | NIVITDYSSE | DMDVEMALKR |
| 850 | 860 | 870 | 880 | 890 | 900 |
| SKLRSYQYVK | LSGNFERSAG | LQAGIDLVKD | PHSIIFLCDL | HIHFPAGVID | AIRKHCVEGK |
| 910 | 920 | 930 | 940 | 950 | 960 |
| MAFAPMVMRL | HCGATPQWPE | GYWEVNGFGL | LGIYKSDLDR | IGGMNTKEFR | DRWGGEDWEL |
| 970 | 980 | 990 | |||
| LDRILQAGLD | VERLSLRNFF | HHFHSKRGMW | SRRQMKTL |