P36537
PR
Gene name |
UGT2B10 |
Protein name |
UDP-glucuronosyltransferase 2B10 |
Names |
UDPGT 2B10 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7365 |
EC number |
2.4.1.17: 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
2 structures for P36537
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7YF5 | X-ray | 153 A | A/B | 282-449 | PDB |
| AF-P36537-F1 | Predicted | AlphaFoldDB |
626 variants for P36537
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs115244875 CA2942822 |
2 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA357085370 rs1265368683 |
3 | L>M | No |
gnomAD ClinGen |
|
| TCGA novel | 4 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357085396 rs1560412288 |
5 | W>R | No |
ClinGen Ensembl |
|
|
CA357085412 rs1188812192 |
6 | T>S | No |
gnomAD ClinGen |
|
|
rs1264283381 CA357085429 |
7 | T>I | No |
ClinGen gnomAD |
|
|
rs1191738949 CA357085438 |
8 | V>A | No |
ClinGen gnomAD |
|
|
CA357085469 rs1263567182 |
11 | I>T | No |
TOPMed gnomAD ClinGen |
|
|
rs1451913161 CA357085476 |
12 | Q>* | No |
ClinGen TOPMed |
|
|
rs1451913161 CA357085478 |
12 | Q>E | No |
ClinGen TOPMed |
|
| TCGA novel | 12 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357085493 rs1164092163 |
13 | L>F | No |
TOPMed gnomAD ClinGen |
|
|
rs1348221492 CA357085503 |
14 | S>G | No |
TOPMed gnomAD ClinGen |
|
|
rs749692409 CA2942828 |
15 | F>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2942827 rs780403686 |
15 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs749692409 CA357085521 |
15 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA2942830 rs774934322 |
16 | Y>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs772626757 CA2942832 |
17 | F>C | No |
ExAC ClinGen |
|
|
rs368959429 CA2942831 |
17 | F>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA2942833 rs772747992 |
19 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227386791 CA357085595 |
20 | G>A | No |
TOPMed gnomAD ClinGen |
|
|
rs1227386791 CA357085597 |
20 | G>V | No |
TOPMed gnomAD ClinGen |
|
|
rs760152967 CA357085614 |
21 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs760152967 CA2942834 |
21 | S>N | No |
ExAC gnomAD ClinGen |
|
|
CA357085616 rs1003436381 |
21 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1219374764 CA357085627 |
22 | C>W | No |
ClinGen gnomAD |
|
|
rs766039998 CA2942835 |
24 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA357085653 rs759376978 |
24 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA2942836 rs753445323 |
24 | K>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA357085658 rs373198156 |
25 | V>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs373198156 CA2942838 |
25 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357085665 rs1473216554 |
26 | L>P | No |
ClinGen gnomAD |
|
|
rs1411671717 CA357085673 |
27 | V>A | No |
ClinGen gnomAD |
|
|
CA357085668 rs1181521794 |
27 | V>I | No |
gnomAD ClinGen |
|
|
CA357085686 rs1159162369 |
28 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs145133187 CA2942842 |
30 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145133187 CA2942841 |
30 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs922753346 CA98786145 |
31 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1446766352 CA357085721 |
31 | E>D | No |
ClinGen gnomAD |
|
|
CA98786127 rs978277248 |
31 | E>K | No |
ClinGen TOPMed |
|
|
rs922753346 CA357085717 |
31 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1430446394 CA357085737 |
33 | S>R | No |
gnomAD ClinGen |
|
|
CA2942844 rs756213799 |
34 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2942845 rs781382469 |
34 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1376808814 CA357085768 |
35 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 35 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749462434 CA2942846 |
36 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs755214951 CA2942847 |
37 | N>S | No |
ExAC gnomAD ClinGen |
|
|
rs755214951 CA357085788 |
37 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA357085798 rs1479600225 |
38 | M>L | No |
TOPMed ClinGen |
|
|
rs1238629299 CA357085810 |
38 | M>T | No |
gnomAD ClinGen |
|
|
rs1578260844 CA357085834 |
39 | K>R | No |
ClinGen Ensembl |
|
|
rs370730200 CA2942850 |
40 | T>A | No |
ESP ExAC gnomAD ClinGen |
|
|
rs1254235597 CA357085852 |
40 | T>I | No |
TOPMed ClinGen |
|
|
CA2942851 rs748513326 |
41 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA2942852 rs772501345 |
41 | I>N | No |
ExAC gnomAD ClinGen |
|
|
CA357085858 rs748513326 |
41 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA357085874 rs773658951 |
42 | L>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2942854 rs746549576 |
43 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1437256214 CA357085919 |
43 | K>R | No |
TOPMed ClinGen |
|
|
CA2942855 rs770357735 |
44 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357085964 rs776282333 |
45 | L>F | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 45 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2942856 rs776282333 |
45 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759172912 CA2942857 |
46 | V>A | No |
ExAC gnomAD ClinGen |
|
|
rs775192068 CA2942859 |
47 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA2942858 rs764940205 |
47 | Q>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1359734708 CA357086039 |
49 | G>A | No |
ClinGen gnomAD |
|
|
CA2942861 rs764151983 |
50 | H>Y | No |
ExAC gnomAD ClinGen |
|
|
CA357086121 rs1355975561 |
52 | V>M | No |
ClinGen gnomAD |
|
|
CA357086142 rs1222063596 |
53 | T>A | No |
TOPMed ClinGen |
|
|
rs376414056 CA2942863 |
56 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2942862 rs751503556 |
56 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 57 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357086219 rs1374046959 |
59 | A>P | No |
ClinGen gnomAD |
|
|
rs1445163432 CA357086258 |
61 | I>V | No |
ClinGen gnomAD |
|
|
rs200957276 CA2942866 |
62 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200957276 COSM86524 CA2942865 |
62 | L>I | ovary Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1320189262 CA357086301 |
63 | F>L | No |
ClinGen gnomAD |
|
|
CA357086292 rs1560412625 |
63 | F>S | No |
Ensembl ClinGen |
|
|
CA98786296 rs920369372 |
63 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs61750900 CA2942871 |
67 | D>N | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA2942870 rs61750900 |
67 | D>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1247264485 CA357086386 |
68 | S>A | No |
ClinGen gnomAD |
|
|
rs1247264485 CA357086384 |
68 | S>P | No |
gnomAD ClinGen |
|
|
CA357086420 rs1421394263 |
70 | T>I | No |
ClinGen gnomAD |
|
|
CA98786333 rs367563045 |
71 | L>H | No |
ESP gnomAD ClinGen |
|
|
rs906354528 CA98786317 |
71 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA357086433 rs367563045 |
71 | L>R | No |
ESP gnomAD ClinGen |
|
|
rs747454166 CA2942874 |
72 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771418407 CA2942875 |
72 | K>T | No |
ExAC gnomAD ClinGen |
|
|
CA2942876 rs776194391 |
73 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1436401183 CA357086476 |
74 | E>G | No |
gnomAD ClinGen |
|
|
rs775161105 CA2942879 |
77 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1257707472 CA357086539 |
78 | T>A | No |
ClinGen gnomAD |
|
|
CA2942881 rs200513422 |
79 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs370808333 CA2942884 |
80 | L>* | No |
ESP ExAC gnomAD ClinGen |
|
|
CA2942883 rs774273117 |
80 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA2942885 rs753912188 |
81 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs370766068 CA2942887 |
83 | T>A | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs370766068 CA2942886 |
83 | T>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs566284581 CA98786450 |
84 | E>A | No |
1000Genomes ClinGen |
|
|
CA2942888 rs752892856 |
85 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1192453042 CA357086665 |
86 | E>K | No |
gnomAD ClinGen |
|
|
CA2942890 rs778172272 |
87 | N>I | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 87 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 88 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1389408603 CA357086732 |
89 | I>N | No |
gnomAD ClinGen |
|
|
CA2942891 rs751921592 |
89 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757803082 CA2942892 |
90 | M>L | No |
ExAC gnomAD ClinGen |
|
|
CA357086796 COSM4135854 rs1362809119 |
92 | L>F | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs745394082 CA2942894 |
93 | V>D | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 94 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2942897 rs370248622 |
95 | R>I | No |
ESP ExAC gnomAD ClinGen |
|
|
rs370248622 CA2942896 |
95 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC gnomAD ClinGen NCI-TCGA |
|
CA2942898 rs768417574 |
96 | L>V | No |
ExAC gnomAD ClinGen |
|
|
rs1284794164 CA357086886 |
97 | S>L | No |
ClinGen gnomAD |
|
|
rs1370701627 CA357086904 |
98 | E>G | No |
ClinGen TOPMed |
|
|
rs1207956601 CA357086924 |
99 | I>T | No |
ClinGen gnomAD |
|
|
CA2942899 rs774328009 |
100 | Q>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs373776010 CA357086941 |
100 | Q>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373776010 CA2942900 |
100 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1448112759 CA357086974 |
102 | D>H | No |
TOPMed ClinGen |
|
|
CA357087006 rs1425129701 |
103 | T>I | No |
ClinGen gnomAD |
|
|
CA357087035 rs1187845340 |
105 | W>* | No |
gnomAD ClinGen |
|
|
rs1391969233 CA357087045 |
105 | W>C | No |
ClinGen Ensembl |
|
|
rs765298425 CA2942904 |
107 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2942903 rs759537073 |
107 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA357087089 rs1420687118 |
108 | F>V | No |
gnomAD ClinGen |
|
|
rs1458620801 CA357087122 |
110 | Q>R | No |
ClinGen TOPMed |
|
|
CA357087168 rs1359041043 |
112 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA357087170 rs1359041043 |
112 | Q>E | No |
TOPMed gnomAD ClinGen |
|
|
CA357087166 rs1359041043 |
112 | Q>K | No |
TOPMed gnomAD ClinGen |
|
|
rs895046142 CA98786603 |
113 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA2942905 rs752703844 |
114 | I>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2942908 rs751973069 |
116 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs749384384 CA2942907 |
116 | W>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA98786633 rs1022284521 |
117 | A>E | No |
TOPMed ClinGen |
|
|
CA2942909 rs375140250 |
117 | A>T | No |
ESP ExAC gnomAD ClinGen |
|
|
CA357087291 rs1022284521 |
117 | A>V | No |
TOPMed ClinGen |
|
|
rs781580890 CA2942910 |
119 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA357087358 rs1466549452 |
121 | I>T | No |
TOPMed ClinGen |
|
|
CA357087368 rs1200642587 |
122 | I>L | No |
ClinGen gnomAD |
|
|
rs1255102627 CA357087444 |
125 | F>L | No |
ClinGen gnomAD |
|
|
CA357087442 rs1249089759 |
125 | F>S | No |
TOPMed ClinGen |
|
|
rs182665756 CA2942911 |
126 | C>R | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA98786663 rs902629317 |
126 | C>S | No |
ClinGen TOPMed |
|
|
CA2942912 rs755594714 |
127 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 128 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779680398 CA2942913 |
129 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs768472445 CA357087510 |
130 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2942915 rs768472445 |
130 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs748774493 CA2942914 |
130 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1467947451 CA357087522 |
131 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2942916 rs368660740 |
132 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1578261415 CA357087535 |
133 | K>E | No |
ClinGen Ensembl |
|
|
CA2942918 rs747983652 |
134 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2942917 rs747983652 |
134 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs773034258 CA2942919 |
135 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357087572 rs773034258 |
135 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770772934 CA98786690 |
136 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760720595 CA2942920 |
136 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2942921 COSM3767950 rs770772934 |
136 | M>T | liver [Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated |
|
rs1307039862 CA357087613 |
137 | K>R | No |
gnomAD ClinGen |
|
|
rs187666724 CA98786692 |
139 | L>V | No |
1000Genomes TOPMed gnomAD ClinGen |
|
|
CA357087689 rs1303753270 |
141 | E>K | No |
gnomAD ClinGen |
|
|
rs763002330 CA2942923 |
142 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA2942924 rs764325423 |
143 | R>S | No |
ExAC gnomAD ClinGen |
|
|
CA2942926 rs201775548 |
145 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2942925 rs201775548 |
145 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756682834 CA98786735 |
146 | I>N | No |
ExAC gnomAD ClinGen |
|
|
CA2942929 rs756682834 |
146 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2942928 rs537874519 |
146 | I>V | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs754496320 CA2942932 |
147 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs754496320 CA357087796 |
147 | V>L | No |
ExAC gnomAD ClinGen |
|
|
CA2942933 rs199569934 |
150 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA357087864 rs770953272 |
151 | A>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2942935 rs200419731 |
151 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2942937 rs200419731 |
151 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs200419731 CA2942936 |
151 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs770953272 CA2942938 |
151 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA357087880 rs540288781 |
152 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2942940 rs540288781 |
152 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1387279620 CA357087876 |
152 | Y>H | No |
gnomAD ClinGen |
|
|
rs540288781 CA2942939 |
152 | Y>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA2942941 rs553605922 |
153 | L>F | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA357087912 rs1220044971 |
154 | P>L | No |
TOPMed gnomAD ClinGen |
|
|
CA357087909 rs1220044971 |
154 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA357087917 rs1289017258 |
155 | C>R | No |
TOPMed ClinGen |
|
|
CA357087940 rs1578261588 |
156 | G>R | No |
ClinGen Ensembl |
|
|
CA98786823 rs552800373 |
158 | L>V | No |
ClinGen Ensembl |
|
|
CA357088033 rs1578261604 |
160 | A>G | No |
ClinGen Ensembl |
|
| TCGA novel | 160 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376619171 CA2942942 |
161 | E>A | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1267066787 CA357088117 |
165 | I>T | No |
gnomAD ClinGen |
|
|
rs1192311289 CA357088114 |
165 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1294699386 CA357088128 |
167 | F>L | No |
ClinGen TOPMed |
|
|
rs760899393 CA2942946 |
168 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760899393 CA357088136 |
168 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773673005 CA357088134 |
168 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773673005 CA2942945 |
168 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357088158 rs754545207 |
171 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA2942949 rs754545207 |
171 | H>R | No |
ExAC gnomAD ClinGen |
|
|
rs1292899279 CA357088164 |
172 | S>C | No |
ClinGen gnomAD |
|
|
rs764895973 CA2942950 |
172 | S>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA357088162 rs1292899279 |
172 | S>R | No |
gnomAD ClinGen |
|
|
CA2942951 rs752247724 |
173 | F>L | No |
ExAC gnomAD ClinGen |
|
|
rs61733532 CA2942952 |
174 | S>T | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 177 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 178 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746847464 CA2942954 |
179 | F>I | No |
ExAC ClinGen |
|
|
CA2942955 rs369871943 |
181 | R>K | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA2942956 rs781112661 |
181 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357088232 rs1321831140 |
182 | H>P | No |
TOPMed gnomAD ClinGen |
|
|
CA357088233 rs1321831140 |
182 | H>R | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 182 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1200570745 CA357088237 |
183 | S>C | No |
TOPMed ClinGen |
|
|
CA2942958 rs769708072 |
183 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs774482094 CA2942959 |
184 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748152819 CA2942960 |
185 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373425561 CA2942962 |
188 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357088271 rs1364833326 |
188 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 188 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2942964 rs766591504 |
189 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2942963 rs761105719 |
189 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA2942968 rs369904516 |
192 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375214752 CA98786986 |
192 | Y>C | No |
ESP ClinGen |
|
|
rs1163960063 CA357088298 |
193 | V>I | No |
TOPMed gnomAD ClinGen |
|
|
rs373127647 CA2942970 |
194 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762324444 CA2942969 |
194 | P>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2942971 rs562436137 |
195 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1411742080 CA357088313 |
196 | V>I | No |
TOPMed ClinGen |
|
| TCGA novel | 197 | M>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs111772923 CA2942976 CA2942975 |
197 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750216968 CA2942974 |
197 | M>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1560413272 CA357088320 |
197 | M>V | No |
ClinGen Ensembl |
|
|
rs746995964 CA98787055 |
199 | K>E | No |
ClinGen Ensembl |
|
|
rs771978750 CA2942978 |
200 | L>* | No |
ClinGen ExAC |
|
|
CA2942979 rs778066790 |
201 | S>N | No |
ExAC gnomAD ClinGen |
|
|
CA2942982 rs777173140 |
204 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2942981 rs771270890 |
204 | M>K | No |
ExAC gnomAD ClinGen |
|
|
rs371047054 CA2942980 |
204 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357088382 rs1248206519 |
206 | F>S | No |
gnomAD ClinGen |
|
|
CA98787136 rs1007082869 |
207 | M>I | No |
TOPMed ClinGen |
|
|
CA357088410 rs1213869489 |
210 | V>I | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 212 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2942986 rs762532244 |
213 | M>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2942985 rs188836570 |
213 | M>T | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs770449046 CA2942984 COSM1294151 |
213 | M>V | cervix [Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated |
|
CA2942987 rs370143691 |
214 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357088438 rs370143691 |
214 | L>I | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA357088448 rs761441621 |
215 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2942988 rs751067381 |
215 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA98787169 rs564100526 |
216 | V>M | No |
1000Genomes ClinGen |
|
|
rs750239437 CA2942991 |
217 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs974275256 CA98787171 |
218 | Y>C | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 219 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357088471 rs1263669191 |
219 | F>S | No |
ClinGen TOPMed |
|
|
rs533255242 CA2942992 |
220 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779971456 CA2942993 |
222 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA98787183 rs1027280975 |
222 | W>C | No |
TOPMed gnomAD ClinGen |
|
|
rs779971456 CA357088493 |
222 | W>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA357088501 rs753660054 |
223 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA2942994 rs753660054 |
223 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2942995 rs754926782 |
225 | I>M | No |
ExAC gnomAD ClinGen |
|
|
rs1321064243 CA357088517 |
225 | I>T | No |
ClinGen TOPMed |
|
|
rs1578261918 CA357088523 |
226 | F>C | No |
ClinGen Ensembl |
|
|
CA357088519 rs1261527826 |
226 | F>L | No |
ClinGen TOPMed |
|
|
CA2942996 rs777777554 |
227 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747077088 CA2942997 |
228 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350382818 CA357088563 |
231 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 231 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA98787218 rs774736606 |
232 | D>V | No |
ClinGen Ensembl |
|
|
rs1306435232 CA357088580 |
233 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs771325774 CA2942999 |
235 | Y>* | No |
ExAC gnomAD ClinGen |
|
|
rs1560413415 CA357088591 |
235 | Y>H | No |
ClinGen Ensembl |
|
|
CA2943000 rs746268655 |
237 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183625802 CA357088605 |
237 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1169648748 CA357088612 |
238 | V>I | No |
ClinGen gnomAD |
|
|
CA2943001 CA2943002 rs770220227 |
240 | G>R | No |
ExAC gnomAD ClinGen |
|
|
CA2943035 rs765120053 |
241 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1404789159 CA357089086 |
241 | R>S | No |
gnomAD ClinGen |
|
|
rs1284422668 CA357089093 |
242 | P>S | No |
TOPMed ClinGen |
|
|
rs752617796 CA2943036 |
244 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA357089118 rs1215237960 |
244 | T>I | No |
TOPMed ClinGen |
|
|
CA2943037 rs538078161 |
245 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2943039 rs750526338 |
246 | S>T | No |
ExAC gnomAD ClinGen |
|
|
CA357089146 rs1229928683 |
247 | E>G | No |
gnomAD ClinGen |
|
|
rs1246486029 CA357089142 |
247 | E>K | No |
ClinGen TOPMed |
|
|
rs756446413 CA2943040 |
249 | M>R | No |
ExAC gnomAD ClinGen |
|
|
CA357089198 rs1490121164 |
251 | K>R | No |
ClinGen gnomAD |
|
|
rs368038463 CA2943041 |
252 | A>D | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 253 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357089214 rs1265079326 |
253 | D>N | No |
ClinGen gnomAD |
|
|
rs755301107 CA2943043 |
254 | I>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2943042 rs749638323 |
254 | I>T | No |
ExAC gnomAD ClinGen |
|
|
rs748712044 CA2943045 |
255 | W>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs779299825 CA2943044 |
255 | W>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs772559840 CA2943046 |
256 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs1301612414 CA357089253 |
257 | M>K | No |
ClinGen gnomAD |
|
|
rs772745889 CA2943047 |
257 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2943048 rs186814479 |
258 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs186814479 CA2943049 |
258 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201500332 CA2943051 |
258 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs201500332 CA2943050 |
258 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1317950568 CA357089278 |
260 | S>P | No |
gnomAD ClinGen |
|
|
CA98788403 rs375675439 |
261 | W>R | No |
ClinGen ESP |
|
|
rs934888639 CA98788404 |
263 | F>I | No |
ClinGen TOPMed |
|
|
CA2943052 rs769577001 |
264 | K>E | No |
ExAC ClinGen |
|
|
CA357089350 rs1284704485 |
266 | P>L | No |
ClinGen gnomAD |
|
|
CA2943054 rs763050537 |
268 | P>A | No |
ExAC gnomAD ClinGen |
|
|
CA2943055 rs368183985 |
268 | P>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA357089376 rs1354201900 |
269 | F>L | No |
ClinGen gnomAD |
|
|
CA98788422 rs369442693 |
273 | V>A | No |
Ensembl ClinGen |
|
|
CA2943057 rs760761448 |
273 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs760761448 CA357089416 |
273 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA357089430 rs1443641926 |
274 | D>E | No |
gnomAD ClinGen |
|
|
rs943786845 CA98788426 |
275 | F>S | No |
TOPMed ClinGen |
|
|
rs1187561675 CA357089447 |
276 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1187561675 CA357089445 |
276 | V>I | No |
TOPMed gnomAD ClinGen |
|
|
rs1241997192 CA357089464 |
278 | G>R | No |
ClinGen gnomAD |
|
|
CA357089474 rs1223202593 |
279 | L>F | No |
ClinGen TOPMed |
|
|
rs1382519432 CA357089486 |
280 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2943060 rs754032984 |
282 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1976666 CA2943061 |
283 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs543120581 CA2943064 |
285 | K>N | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA2943063 rs376282977 |
285 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA2943065 rs373059693 |
286 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs373059693 CA2943066 |
286 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357089541 rs1311436735 |
286 | P>T | No |
gnomAD ClinGen |
|
|
rs1431181060 CA357089563 |
288 | P>R | No |
gnomAD ClinGen |
|
|
rs1479995488 CA357090214 |
290 | E>G | No |
ClinGen TOPMed |
|
|
rs782703381 CA357090208 |
290 | E>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA357090251 rs1206344553 |
293 | E>A | No |
TOPMed gnomAD ClinGen |
|
|
CA357090276 rs1168341003 |
294 | F>C | No |
TOPMed ClinGen |
|
|
CA357090267 rs1210372131 |
294 | F>L | No |
ClinGen TOPMed |
|
|
rs369285560 CA357090292 |
296 | Q>* | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs782769475 CA357090301 |
296 | Q>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs188415221 CA357090305 |
297 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA357090336 rs782479730 |
299 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs781787063 CA357090356 |
300 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357090347 rs782608133 |
300 | E>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA357090360 rs782456563 |
301 | N>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs192891076 CA357090389 |
303 | V>A | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA357090414 rs1370192273 |
304 | V>G | No |
ClinGen gnomAD |
|
|
rs1168219768 CA357090404 |
304 | V>L | No |
gnomAD ClinGen |
|
|
CA357090420 rs368640474 |
305 | V>L | No |
ESP ExAC gnomAD ClinGen |
|
|
CA357090417 rs368640474 |
305 | V>M | No |
ESP ExAC gnomAD ClinGen |
|
|
CA357090447 rs1162631634 |
307 | S>F | No |
ClinGen gnomAD |
|
|
CA357090450 rs782666944 |
308 | L>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs587724173 CA357090457 |
309 | G>R | No |
1000Genomes ExAC gnomAD ClinGen |
|
| TCGA novel | 310 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA98791060 rs111420468 |
310 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA98791057 rs111420468 |
310 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs782005756 CA357090477 |
311 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357090484 rs1362141326 |
311 | M>T | No |
gnomAD ClinGen |
|
|
rs782005756 CA357090480 COSM1633757 |
311 | M>V | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA357090495 rs781982054 |
312 | V>I | No |
ExAC TOPMed ClinGen |
|
|
CA357090520 rs1272358373 |
314 | N>D | No |
ClinGen TOPMed |
|
|
CA357090541 rs782044106 |
315 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA357090535 rs367581024 |
315 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1357798442 CA357090540 |
315 | M>R | No |
TOPMed gnomAD ClinGen |
|
|
rs1357798442 CA357090539 |
315 | M>T | No |
TOPMed gnomAD ClinGen |
|
|
rs367581024 CA357090532 |
315 | M>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1416406921 CA357090550 |
316 | T>R | No |
ClinGen TOPMed |
|
|
rs199721558 CA357090559 |
317 | E>A | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA357090578 rs1184792113 |
318 | E>D | No |
gnomAD ClinGen |
|
|
CA357090573 rs1485583821 |
318 | E>G | No |
gnomAD ClinGen |
|
|
rs781894913 CA357090592 |
320 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782554676 CA357090601 |
320 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs369643682 CA357090616 |
322 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA357090634 rs782478803 |
323 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA357090632 rs1223997995 |
323 | I>T | No |
TOPMed ClinGen |
|
|
CA357090639 rs192560551 |
324 | A>T | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1267475699 CA357090651 |
325 | T>A | No |
TOPMed ClinGen |
|
|
rs782183393 CA357090655 |
325 | T>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs782183393 CA357090653 |
325 | T>K | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 326 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357090661 rs782812891 |
326 | A>V | No |
Ensembl ClinGen |
|
|
rs587715482 CA357090670 |
327 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782686830 CA357090681 |
328 | A>D | No |
ExAC gnomAD ClinGen |
|
|
CA357090685 rs782686830 |
328 | A>V | No |
ExAC gnomAD ClinGen |
|
|
rs1315031783 CA357090686 |
329 | K>Q | No |
gnomAD ClinGen |
|
|
CA357090704 rs782243710 |
330 | I>N | No |
ExAC gnomAD ClinGen |
|
|
CA357090701 rs1381024402 |
330 | I>V | No |
ClinGen gnomAD |
|
|
rs1285402431 CA357090725 |
331 | P>L | No |
gnomAD ClinGen |
|
|
rs1229113869 CA357090758 |
333 | K>N | No |
TOPMed ClinGen |
|
|
rs1213944200 CA357090752 |
333 | K>T | No |
gnomAD ClinGen |
|
|
rs373796027 CA2943112 |
334 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2943113 rs527412075 |
335 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752248994 CA2943114 |
336 | W>R | No |
ExAC gnomAD ClinGen |
|
|
CA2943115 rs762555453 COSM1724388 |
337 | R>K | NS [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs886313609 CA98793856 |
338 | F>V | No |
TOPMed gnomAD ClinGen |
|
|
rs1440549240 CA357091270 |
338 | F>Y | No |
ClinGen gnomAD |
|
|
CA2943116 rs763780648 |
339 | D>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs757009901 CA2943118 |
340 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1281407879 CA357091296 |
342 | K>* | No |
TOPMed gnomAD ClinGen |
|
|
rs750306775 CA2943120 |
343 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs767451406 CA2943119 |
343 | P>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA98793887 rs767451406 |
343 | P>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs756068390 CA2943121 |
344 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2943125 rs200803372 |
347 | G>D | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA357091326 rs1490070831 |
347 | G>R | No |
gnomAD ClinGen |
|
|
CA2943126 rs747382511 |
349 | N>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2943127 rs377540536 |
350 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1475484294 CA357091345 |
350 | T>S | No |
gnomAD ClinGen |
|
|
rs200095580 CA2943128 |
351 | R>* | Variant assessed as Somatic; 9.246e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200745704 CA357091350 |
351 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2943129 rs200745704 |
351 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
| TCGA novel | 353 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357091365 rs1301573929 |
354 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 354 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774912289 CA2943131 |
354 | K>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2943132 rs549158833 |
356 | I>V | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1269682923 CA357091386 |
357 | P>T | No |
gnomAD ClinGen |
|
|
CA357091411 rs1248110937 |
360 | D>H | No |
ClinGen gnomAD |
|
|
CA2943134 rs192948524 |
361 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA98793962 rs192948524 |
361 | L>I | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1358515384 CA357091420 |
361 | L>P | No |
gnomAD ClinGen |
|
|
rs761612483 CA98794005 COSM587923 |
363 | G>C | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs761612483 CA2943135 |
363 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761612483 CA357091427 |
363 | G>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2943154 rs761524221 |
364 | H>L | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 364 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2943155 rs554098413 |
365 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA2943156 rs772902046 |
367 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357091462 rs772902046 |
367 | T>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1450381810 CA357091478 |
369 | A>G | No |
gnomAD ClinGen |
|
| TCGA novel | 370 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357091491 rs1342314631 |
371 | I>K | No |
TOPMed ClinGen |
|
|
CA357091489 rs1226709049 |
371 | I>V | No |
ClinGen TOPMed |
|
|
rs753750945 CA2943159 |
372 | T>I | No |
ExAC gnomAD ClinGen |
|
|
CA2943160 rs753750945 |
372 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA98794627 rs896043141 |
373 | H>R | No |
TOPMed gnomAD ClinGen |
|
|
CA357091510 rs1223526983 |
374 | G>D | No |
ClinGen gnomAD |
|
|
rs375070901 CA2943162 |
375 | G>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA2943163 rs757604916 |
376 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2943165 rs750785268 |
378 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA357091555 rs1181348525 |
381 | E>A | No |
gnomAD ClinGen |
|
|
rs1481548663 CA357091561 |
382 | A>G | No |
ClinGen gnomAD |
|
|
CA98794657 rs4095564 |
382 | A>T | No |
ClinGen gnomAD |
|
|
CA2943168 rs749866635 |
383 | I>L | No |
ExAC gnomAD ClinGen |
|
|
rs749866635 CA2943169 |
383 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA357091572 rs1462597562 |
384 | Y>C | No |
TOPMed ClinGen |
|
|
CA2943170 rs778440259 |
385 | H>R | No |
ExAC gnomAD ClinGen |
|
|
rs747606246 CA2943171 |
386 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA357091600 rs1299861861 |
388 | P>L | No |
ClinGen gnomAD |
|
|
CA2943173 rs772851636 |
389 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA357091603 rs1390670127 |
389 | M>K | No |
TOPMed gnomAD ClinGen |
|
|
CA357091604 rs1390670127 |
389 | M>T | No |
TOPMed gnomAD ClinGen |
|
|
CA2943172 rs771739370 |
389 | M>V | No |
ExAC gnomAD ClinGen |
|
|
CA2943175 rs770816660 |
390 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA357091611 rs770816660 |
390 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA2943174 rs760399763 |
390 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs765245497 CA2943178 |
391 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA357091617 rs1231681735 |
392 | I>F | No |
gnomAD ClinGen |
|
|
CA98794703 rs143010379 COSM106502 |
393 | P>S | skin [Cosmic] | No |
Ensembl ClinGen cosmic curated |
|
rs1340496403 CA357091632 |
394 | L>S | No |
ClinGen gnomAD |
|
|
rs202159234 CA2943181 |
398 | Q>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs71616904 CA2943182 |
399 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200468313 CA357091677 |
400 | D>A | No |
gnomAD ClinGen |
|
|
rs1464259095 CA357091679 |
400 | D>E | No |
ClinGen TOPMed |
|
|
CA357091698 rs756281874 |
403 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2943183 rs750605168 |
403 | A>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2943184 rs756281874 |
403 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780537603 CA2943185 |
407 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357091730 rs1373505762 |
408 | K>E | No |
gnomAD ClinGen |
|
|
CA2943186 rs754123775 |
408 | K>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs755495477 CA2943187 |
409 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA98794769 rs71615102 |
410 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2943188 rs71615102 |
410 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747657481 CA357091746 |
411 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2943189 rs747657481 |
411 | A>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs913826758 CA98794786 |
411 | A>V | No |
ClinGen TOPMed |
|
|
CA357091761 rs1302202378 |
413 | R>S | No |
TOPMed gnomAD ClinGen |
|
|
CA2943190 rs771508573 |
414 | V>E | No |
ExAC gnomAD ClinGen |
|
|
rs758163572 CA98794791 |
414 | V>L | No |
gnomAD ClinGen |
|
|
rs113958082 CA2943191 |
415 | D>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2943192 rs746743089 |
416 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs531958095 CA98794819 |
417 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2943194 rs531958095 |
417 | N>H | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA2943195 rs759358213 |
418 | T>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2943197 rs545266191 |
419 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1367058715 CA357091792 |
419 | M>V | No |
gnomAD ClinGen |
|
|
CA2943199 rs767697932 |
420 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA2943198 rs762002008 |
420 | S>T | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 421 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2943201 rs761001451 |
421 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766460048 CA2943202 |
422 | T>K | No |
ExAC gnomAD ClinGen |
|
|
rs368602880 CA2943205 |
424 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357091838 rs1209377301 |
426 | N>K | No |
ClinGen TOPMed |
|
|
rs765743216 CA2943206 |
427 | A>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2943208 rs199846640 |
428 | L>P | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA2943209 rs777379990 |
429 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1295875356 COSM481436 CA357091857 |
430 | T>A | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 430 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2943211 rs746478324 |
431 | V>I | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 432 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357091868 rs1322453418 |
432 | I>V | No |
TOPMed ClinGen |
|
|
rs769765718 CA2943210 |
433 | N>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1371908005 CA357091901 |
434 | D>E | No |
TOPMed ClinGen |
|
|
CA98794885 rs547814039 |
435 | P>L | No |
1000Genomes TOPMed ClinGen |
|
|
rs375008131 COSM359919 CA2943214 |
436 | S>L | lung endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2943246 rs751955717 |
439 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs569450157 CA2943245 |
439 | E>K | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA2943247 rs762370474 |
441 | I>V | No |
ExAC gnomAD ClinGen |
|
|
rs1471412185 CA357092588 |
442 | M>V | No |
gnomAD ClinGen |
|
|
rs201775293 CA2943248 |
443 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1578276564 CA357092609 |
444 | L>F | No |
ClinGen Ensembl |
|
|
CA357092606 rs1431140253 |
444 | L>S | No |
TOPMed ClinGen |
|
|
rs749925053 CA357092614 |
445 | S>* | No |
ExAC gnomAD ClinGen |
|
|
rs749925053 CA2943249 |
445 | S>L | No |
ExAC gnomAD ClinGen |
|
|
rs772097002 CA2943250 |
446 | R>* | No |
TOPMed gnomAD ClinGen |
|
|
rs1334146308 CA357092635 |
448 | Q>H | No |
gnomAD ClinGen |
|
|
rs1178827038 CA357092628 |
448 | Q>K | No |
ClinGen TOPMed |
|
|
rs1357775254 CA357092639 |
449 | H>R | No |
ClinGen gnomAD |
|
|
rs755883696 CA357092651 |
450 | D>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs779808317 CA357092653 |
451 | Q>E | No |
ExAC gnomAD ClinGen |
|
|
rs779808317 CA2943253 |
451 | Q>K | No |
ExAC gnomAD ClinGen |
|
|
rs1235770706 CA357092659 |
452 | P>T | No |
TOPMed ClinGen |
|
|
CA98796970 rs1019871699 |
454 | K>R | No |
ClinGen TOPMed |
|
|
rs370105771 CA2943255 |
455 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753667505 CA2943254 |
455 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs778753702 CA98796981 |
456 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357092685 rs1363909227 |
456 | L>R | No |
gnomAD ClinGen |
|
|
CA2943257 rs374116536 |
458 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs368027243 CA2943259 |
458 | R>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs368027243 CA2943258 |
458 | R>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1398361995 CA357092699 |
459 | A>E | No |
TOPMed ClinGen |
|
|
rs745898247 CA2943260 |
460 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs770033962 CA357092707 |
461 | F>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs770033962 CA2943261 |
461 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357092725 rs1250825543 |
463 | I>V | No |
gnomAD ClinGen |
|
|
CA357092743 rs1201188777 |
465 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs374924626 CA98796999 |
466 | V>I | No |
ClinGen gnomAD |
|
|
CA2943262 rs775623132 |
467 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1479859453 CA357092756 |
467 | M>T | No |
gnomAD ClinGen |
|
|
rs371487094 COSM1056904 CA2943263 |
468 | R>C | large_intestine endometrium [Cosmic] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated |
|
rs371487094 CA2943264 |
468 | R>G | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA2943265 rs375571968 |
468 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA357092761 rs375571968 |
468 | R>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA357092760 rs375571968 |
468 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371487094 CA98797004 |
468 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768120686 CA2943267 |
470 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA98797019 rs748448546 |
470 | K>R | No |
Ensembl ClinGen |
|
|
COSM108760 rs145159685 CA98797024 |
471 | G>E | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
Ensembl ClinGen cosmic curated NCI-TCGA |
|
rs1560422385 CA357092790 |
473 | K>T | No |
Ensembl ClinGen |
|
|
CA2943270 rs760192768 |
474 | H>L | No |
ExAC gnomAD ClinGen |
|
|
rs760192768 CA357092797 |
474 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA2943269 rs200109225 |
474 | H>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA2943272 rs571769543 |
475 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754651977 COSM1310212 CA2943273 |
476 | R>* | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2943274 rs372383424 |
476 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs752512596 CA2943275 |
477 | V>A | No |
ExAC gnomAD ClinGen |
|
|
CA357092822 rs1292142422 |
479 | A>P | No |
TOPMed gnomAD ClinGen |
|
|
CA357092820 rs1292142422 |
479 | A>T | No |
TOPMed gnomAD ClinGen |
|
|
rs777647804 CA2943277 |
480 | H>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs112561475 CA2943279 |
481 | N>D | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA2943281 rs567502684 |
481 | N>I | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA2943280 rs567502684 |
481 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA357092839 rs1189831943 |
482 | L>V | No |
gnomAD ClinGen |
|
|
rs536035975 CA98797078 |
483 | T>N | No |
1000Genomes TOPMed ClinGen |
|
|
rs544993497 CA98797104 |
484 | W>* | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs759207345 CA2943284 |
484 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs113377881 CA98797126 |
484 | W>C | No |
ClinGen TOPMed |
|
|
rs576246726 CA98797099 |
484 | W>G | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs544993497 CA2943285 |
484 | W>L | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs576246726 CA2943283 |
484 | W>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs748500923 CA2943286 |
486 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA357092865 rs1405006241 |
486 | Q>H | No |
gnomAD ClinGen |
|
|
rs191002100 CA357092863 |
486 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs191002100 CA2943287 |
486 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1321623765 CA357092871 |
487 | Y>C | No |
gnomAD ClinGen |
|
|
rs1041322874 CA98797138 |
488 | H>L | No |
TOPMed gnomAD ClinGen |
|
|
rs1041322874 CA357092879 |
488 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2943289 rs761246132 |
489 | S>F | No |
ExAC ClinGen |
|
|
CA2943290 rs766051025 |
490 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA2943291 rs776173202 |
491 | D>Y | No |
ExAC gnomAD ClinGen |
|
|
rs1315486650 CA357092900 |
492 | V>M | No |
gnomAD ClinGen |
|
|
rs1282456868 CA357092908 |
493 | I>L | No |
ClinGen TOPMed |
|
|
rs147368959 CA2943294 |
493 | I>T | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs377168837 CA98797188 |
494 | G>R | No |
ClinGen ESP TOPMed |
|
|
CA2943295 rs752465166 |
494 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA357092917 rs1285713544 |
495 | F>L | No |
ClinGen gnomAD |
|
|
CA357092924 rs1232075408 |
496 | L>M | No |
TOPMed ClinGen |
|
|
CA2943296 rs758121756 |
496 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs780040646 CA2943300 |
499 | C>F | No |
ExAC gnomAD ClinGen |
|
|
rs757183522 CA2943299 |
499 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs757183522 CA357092940 |
499 | C>R | No |
ExAC gnomAD ClinGen |
|
|
rs757183522 CA357092939 |
499 | C>S | No |
ExAC gnomAD ClinGen |
|
|
CA357092949 rs1369437990 |
500 | V>A | No |
gnomAD ClinGen |
|
|
rs1399749119 CA357092951 |
501 | A>T | No |
ClinGen TOPMed |
|
|
CA357092956 rs1343764784 |
501 | A>V | No |
ClinGen TOPMed |
|
|
rs1161731995 CA357092958 |
502 | T>A | No |
gnomAD ClinGen |
|
|
CA357092962 rs1410238987 |
502 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs755181461 CA2943302 |
503 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs748533246 CA2943304 |
505 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2943305 rs772618391 |
508 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA98797262 rs866657109 |
510 | C>F | No |
Ensembl ClinGen |
|
|
CA357093018 rs1280994755 |
511 | C>F | No |
ClinGen gnomAD |
|
|
CA2943306 rs773704747 |
511 | C>R | No |
ExAC gnomAD ClinGen |
|
|
rs747556118 CA2943307 |
512 | L>P | No |
ExAC gnomAD ClinGen |
|
|
CA2943309 rs776024737 |
515 | F>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2943310 rs759045723 |
516 | W>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA357093063 rs1257272058 |
517 | K>N | No |
TOPMed gnomAD ClinGen |
|
|
CA357093069 rs1192796752 |
518 | F>C | No |
ClinGen TOPMed |
|
|
rs117559713 CA2943311 |
520 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1269710 rs775150849 CA2943312 |
520 | R>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2943313 rs762580817 |
521 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2943316 rs757236874 |
521 | K>N | No |
ExAC gnomAD ClinGen |
|
|
rs763944771 CA2943315 |
521 | K>R | No |
ExAC gnomAD ClinGen |
|
|
rs763944771 CA2943314 |
521 | K>T | No |
ExAC gnomAD ClinGen |
|
|
rs767442442 CA2943317 |
522 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA357093087 rs1409891427 |
522 | G>R | No |
gnomAD ClinGen |
|
|
rs17146903 CA357093106 |
524 | K>N | No |
TOPMed gnomAD ClinGen |
|
|
rs1330652399 CA357093112 |
525 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA357093108 rs1394000404 |
525 | G>R | No |
gnomAD ClinGen |
|
|
rs1289318107 CA357093120 |
526 | K>N | No |
ClinGen TOPMed |
|
|
rs1285871231 CA357093127 |
527 | R>S | No |
ClinGen gnomAD |
|
|
CA357093129 rs1211871500 |
528 | D>N | No |
ClinGen TOPMed |
|
|
rs755022877 CA2943319 |
529 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755022877 CA357093138 |
529 | D>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357093139 rs138970162 |
529 | D>S | No |
gnomAD ClinGen |
|
|
CA98797323 rs138970162 |
529 | D>W | No |
ClinGen gnomAD |
|
|
rs1257168939 CA357093141 |
529 | D>Y | No |
gnomAD ClinGen |
No associated diseases with P36537
1 regional properties for P36537
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | UDP-glycosyltransferase family, conserved site | 348 - 391 | IPR035595 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.4.1.17 | Hexosyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| UDP-glycosyltransferase activity | Catalysis of the transfer of a glycosyl group from a UDP-sugar to a small hydrophobic molecule. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular glucuronidation | The modification of an organic chemical by the conjugation of glucuronic acid. The substances resulting from glucuronidation are known as glucuronosides (or glucuronides) and are often much more water-soluble than the non-glucuronic acid-containing precursor. |
| estrogen metabolic process | The chemical reactions and pathways involving estrogens, C18 steroid hormones that can stimulate the development of female sexual characteristics. Also found in plants. |
| lipid metabolic process | The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. |
36 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q1LZI1 | UGT3A1 | UDP-glucuronosyltransferase 3A1 | Bos taurus (Bovine) | PR |
| Q16880 | UGT8 | 2-hydroxyacylsphingosine 1-beta-galactosyltransferase | Homo sapiens (Human) | PR |
| Q3SY77 | UGT3A2 | UDP-glucuronosyltransferase 3A2 | Homo sapiens (Human) | PR |
| P16662 | UGT2B7 | UDP-glucuronosyltransferase 2B7 | Homo sapiens (Human) | PR |
| O75310 | UGT2B11 | UDP-glucuronosyltransferase 2B11 | Homo sapiens (Human) | PR |
| Q64676 | Ugt8 | 2-hydroxyacylsphingosine 1-beta-galactosyltransferase | Mus musculus (Mouse) | PR |
| Q8JZZ0 | Ugt3a2 | UDP-glucuronosyltransferase 3A2 | Mus musculus (Mouse) | PR |
| Q09426 | Ugt8 | 2-hydroxyacylsphingosine 1-beta-galactosyltransferase | Rattus norvegicus (Rat) | PR |
| Q22295 | ugt-50 | Putative UDP-glucuronosyltransferase ugt-50 | Caenorhabditis elegans | PR |
| Q9LSY6 | UGT71B6 | UDP-glycosyltransferase 71B6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O22822 | UGT74F2 | UDP-glycosyltransferase 74F2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O23382 | UGT71B5 | UDP-glycosyltransferase 71B5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q5XF20 | UGT84A1 | UDP-glycosyltransferase 84A1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q94AB5 | UGT76E12 | Flavonol 3-O-glucosyltransferase UGT76E12 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FE68 | UGT71C5 | UDP-glycosyltransferase 71C5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FN28 | UGT79B9 | UDP-glycosyltransferase 79B9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LME8 | UGT85A7 | UDP-glycosyltransferase 85A7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LMF1 | UGT85A3 | UDP-glycosyltransferase 85A3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LML6 | UGT71C4 | Flavonol 3-O-glucosyltransferase UGT71C4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LML7 | UGT71C3 | UDP-glycosyltransferase 71C3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LS16 | UGT76E7 | UDP-glycosyltransferase 76E7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LSY4 | UGT71B8 | UDP-glycosyltransferase 71B8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LSY5 | UGT71B7 | UDP-glycosyltransferase 71B7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LSY9 | UGT71B1 | UDP-glycosyltransferase 71B1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LXV0 | UGT92A1 | UDP-glycosyltransferase 92A1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SCP5 | UGT73C7 | UDP-glycosyltransferase 73C7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SJL0 | UGT86A1 | UDP-glycosyltransferase 86A1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZQ94 | UGT73C5 | UDP-glycosyltransferase 73C5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZQ95 | UGT73C6 | UDP-glycosyltransferase 73C6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZQ96 | UGT73C3 | UDP-glycosyltransferase 73C3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZQ97 | UGT73C4 | UDP-glycosyltransferase 73C4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZQ98 | UGT73C2 | UDP-glycosyltransferase 73C2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LHJ2 | UGT82A1 | UDP-glycosyltransferase 82A1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O48676 | UGT74B1 | UDP-glycosyltransferase 74B1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZQG4 | UGT73B5 | UDP-glycosyltransferase 73B5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZVX4 | UGT90A1 | UDP-glycosyltransferase 90A1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MALKWTTVLL | IQLSFYFSSG | SCGKVLVWAA | EYSLWMNMKT | ILKELVQRGH | EVTVLASSAS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ILFDPNDSST | LKLEVYPTSL | TKTEFENIIM | QLVKRLSEIQ | KDTFWLPFSQ | EQEILWAIND |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IIRNFCKDVV | SNKKLMKKLQ | ESRFDIVFAD | AYLPCGELLA | ELFNIPFVYS | HSFSPGYSFE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RHSGGFIFPP | SYVPVVMSKL | SDQMTFMERV | KNMLYVLYFD | FWFQIFNMKK | WDQFYSEVLG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RPTTLSETMR | KADIWLMRNS | WNFKFPHPFL | PNVDFVGGLH | CKPAKPLPKE | MEEFVQSSGE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NGVVVFSLGS | MVSNMTEERA | NVIATALAKI | PQKVLWRFDG | NKPDALGLNT | RLYKWIPQND |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LLGHPKTRAF | ITHGGANGIY | EAIYHGIPMV | GIPLFFDQPD | NIAHMKAKGA | AVRVDFNTMS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| STDLLNALKT | VINDPSYKEN | IMKLSRIQHD | QPVKPLDRAV | FWIEFVMRHK | GAKHLRVAAH |
| 490 | 500 | 510 | 520 | ||
| NLTWFQYHSL | DVIGFLLACV | ATVLFIITKC | CLFCFWKFAR | KGKKGKRD |