Q8NCG7
PR
Gene name |
DAGLB |
Protein name |
Diacylglycerol lipase-beta |
Names |
DAGL-beta, DGL-beta, KCCR13L, PUFA-specific triacylglycerol lipase, Sn1-specific diacylglycerol lipase beta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:221955 |
EC number |
3.1.1.3: Carboxylic ester hydrolases |
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 Q8NCG7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8NCG7-F1 | Predicted | AlphaFoldDB |
735 variants for Q8NCG7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA366768617 rs1456463090 |
2 | P>L | No |
ClinGen TOPMed |
|
|
rs767918877 CA4154872 |
3 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs140258530 CA4154870 |
4 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4154869 rs551137447 |
5 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1458578076 CA366768598 |
6 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA366768591 rs1180875374 |
7 | F>L | No |
ClinGen gnomAD |
|
|
rs758811466 CA153350892 |
8 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758811466 CA4154868 |
8 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758811466 CA366768578 |
8 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179551525 CA366768566 |
9 | R>W | No |
ClinGen gnomAD |
|
|
CA366768524 rs1460489544 |
11 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1460489544 CA366768521 |
11 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4154867 rs775518563 |
12 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1170837484 CA366768489 |
13 | I>F | No |
ClinGen TOPMed |
|
|
rs377453364 CA4154865 |
13 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1238867296 CA366768436 |
15 | S>R | No |
ClinGen gnomAD |
|
|
rs1450450834 CA366768393 |
17 | D>E | No |
ClinGen gnomAD |
|
|
rs1315451759 CA366768411 |
17 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1315451759 CA366768413 |
17 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4154863 rs199637474 |
18 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747913176 CA4154862 |
19 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1383163458 CA366768313 |
21 | P>L | No |
ClinGen gnomAD |
|
|
rs1341577938 CA366768318 |
21 | P>S | No |
ClinGen TOPMed |
|
|
CA4154860 rs768388852 |
22 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1458233880 CA366768291 |
23 | F>I | No |
ClinGen gnomAD |
|
|
rs1458233880 CA366768286 |
23 | F>V | No |
ClinGen gnomAD |
|
|
CA153350854 rs908509357 |
24 | F>L | No |
ClinGen Ensembl |
|
|
rs992220065 CA153350845 |
25 | E>* | No |
ClinGen gnomAD |
|
|
rs748995251 CA4154859 |
26 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs750874681 CA4154856 |
28 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs781562515 CA4154855 |
29 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA4154817 rs763913019 |
33 | W>G | No |
ClinGen ExAC |
|
|
rs1253117336 CA366767940 |
33 | W>L | No |
ClinGen gnomAD |
|
|
CA366767930 rs1207272744 |
34 | I>V | No |
ClinGen gnomAD |
|
|
CA366767912 rs1272335251 |
35 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4154816 rs762853231 COSM1238642 |
35 | G>D | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
CA366767916 rs1272335251 |
35 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs775233655 CA4154815 |
38 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA4154813 rs745575925 |
39 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1222600311 CA366767866 |
39 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1439901638 CA366767828 |
41 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 42 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4154811 rs775983676 |
42 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA4154810 rs770534367 |
43 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs138752821 CA4154809 |
44 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778260217 CA4154808 |
45 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs758707876 CA4154806 |
48 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA153348603 rs886602432 |
48 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 48 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 50 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1469047964 CA366767691 |
50 | A>G | No |
ClinGen gnomAD |
|
|
rs1356583217 CA366767701 |
50 | A>T | No |
ClinGen TOPMed |
|
|
CA366767679 rs1232866892 |
51 | G>A | No |
ClinGen gnomAD |
|
|
rs1232866892 CA366767682 |
51 | G>D | No |
ClinGen gnomAD |
|
|
rs1188267001 CA366767669 |
52 | G>E | No |
ClinGen gnomAD |
|
|
rs1188267001 CA366767665 |
52 | G>V | No |
ClinGen gnomAD |
|
|
rs748538522 CA4154805 |
53 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA153348595 rs748538522 |
53 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366767663 rs1455509774 |
53 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA4154804 rs201095630 |
55 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1285956367 CA366767627 |
56 | S>G | No |
ClinGen TOPMed |
|
|
CA366767624 rs1330134742 |
56 | S>N | No |
ClinGen gnomAD |
|
|
CA4154803 rs755130155 |
57 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA4154802 rs376919352 |
59 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA366767562 rs1349798020 |
60 | I>S | No |
ClinGen gnomAD |
|
|
CA366767553 rs766304974 |
61 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766304974 CA4154801 |
61 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366767529 rs1435326736 |
63 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA366767534 rs1335559706 |
63 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs756285755 CA4154800 |
63 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4154799 rs751530420 |
64 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA153348523 rs914343338 |
69 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs914343338 CA366767465 |
69 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA4154795 rs765101962 |
70 | I>K | No |
ClinGen ExAC gnomAD |
|
|
rs759051986 CA4154794 |
70 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs775385157 CA4154796 |
70 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1183104878 CA366767439 |
71 | C>G | No |
ClinGen gnomAD |
|
|
CA366767437 rs199982864 |
71 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4154793 rs199982864 |
71 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4154790 rs140884384 |
73 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140884384 CA4154791 |
73 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA153348458 rs934488061 |
74 | S>L | No |
ClinGen TOPMed |
|
|
CA366767392 rs1168248968 |
75 | A>P | No |
ClinGen TOPMed |
|
|
CA366767394 rs1168248968 |
75 | A>T | No |
ClinGen TOPMed |
|
|
CA4154788 rs772602966 |
75 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4154786 rs374025101 |
76 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769072010 CA4154784 |
77 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA4154785 rs779092635 |
77 | M>V | No |
ClinGen ExAC |
|
|
CA366767347 rs745742035 |
78 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4154783 rs745742035 |
78 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366767330 rs1562491242 |
79 | V>A | No |
ClinGen Ensembl |
|
|
CA366767320 rs1562491238 |
81 | M>V | No |
ClinGen Ensembl |
|
|
CA4154781 rs192472079 |
82 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366767310 rs192472079 |
82 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs145491977 CA4154743 |
84 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145491977 CA4154742 |
84 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4154741 rs770295650 |
85 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4154740 rs746019959 |
86 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1359957402 CA366762815 |
88 | P>S | No |
ClinGen TOPMed |
|
|
rs1359957402 CA366762823 |
88 | P>T | No |
ClinGen TOPMed |
|
|
rs771119310 CA4154739 |
90 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4154738 rs771119310 |
90 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749200999 CA4154734 |
91 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs754899540 COSM1091284 CA4154736 |
91 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4154733 rs565386834 |
92 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4154730 rs767208357 |
94 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA366762642 rs367924632 |
94 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366762633 rs1212573175 |
94 | M>T | No |
ClinGen TOPMed |
|
|
TCGA novel rs367924632 CA4154731 |
94 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC TOPMed gnomAD NCI-TCGA |
|
CA153335260 rs886249851 |
97 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 98 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756729960 CA4154729 |
101 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA4154728 rs751040976 |
101 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366762434 rs1312415627 |
102 | L>V | No |
ClinGen TOPMed |
|
|
rs117103601 CA4154727 |
103 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4154723 rs200117635 |
107 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4154724 rs765690817 |
107 | P>S | No |
ClinGen ExAC |
|
|
CA153335220 rs145271394 |
109 | M>V | No |
ClinGen ESP TOPMed |
|
|
rs1562487643 CA366762200 |
110 | V>A | No |
ClinGen Ensembl |
|
|
CA153335219 rs113560688 |
110 | V>I | No |
ClinGen Ensembl |
|
|
CA153335214 rs1045978704 CA366762161 |
111 | W>C | No |
ClinGen TOPMed |
|
|
rs747222768 CA4154720 |
115 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319194566 CA366762018 |
116 | A>V | No |
ClinGen gnomAD |
|
|
CA153335199 rs907103721 |
117 | A>V | No |
ClinGen gnomAD |
|
|
rs773289388 CA4154719 |
121 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 122 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366761835 rs749247759 |
124 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201822562 CA4154716 |
125 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366761773 rs1158914413 |
126 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 128 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745703962 CA4154714 |
129 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs780996250 CA4154713 |
129 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374065896 CA4154712 |
130 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1236086194 CA366761657 |
131 | N>Y | No |
ClinGen TOPMed |
|
|
CA4154710 rs763592341 |
132 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4154709 rs757911959 |
134 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA366761540 rs757911959 |
134 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA4154708 rs753240993 |
135 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA153335118 rs762971743 |
135 | A>V | No |
ClinGen Ensembl |
|
|
rs1259437905 CA366761464 |
136 | T>A | No |
ClinGen gnomAD |
|
|
rs200964666 CA4154707 |
136 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200964666 CA4154706 |
136 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366761438 rs1317244525 |
137 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA153335008 rs370946354 |
138 | V>A | No |
ClinGen ESP |
|
|
CA4154703 rs139914849 |
138 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1470080016 CA366761350 |
140 | S>G | No |
ClinGen TOPMed |
|
|
CA4154661 rs757413705 |
142 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1281194677 CA366760561 |
143 | I>F | No |
ClinGen gnomAD |
|
|
CA366760556 rs1414035654 |
144 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs764153612 CA366760548 |
145 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764153612 CA4154659 |
145 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4154657 rs776606702 |
147 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA366760535 rs1320331149 |
147 | T>R | No |
ClinGen TOPMed |
|
|
CA4154655 rs766265972 |
151 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747273901 CA153333052 |
153 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4154654 rs760695388 |
153 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs772830566 CA4154653 |
154 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771910048 CA4154652 |
156 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA366760483 rs1477980850 COSM3833084 |
156 | D>N | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA153333043 rs747733355 |
157 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747733355 CA4154651 |
157 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774208918 CA4154650 |
158 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366760467 rs988817844 |
159 | G>R | No |
ClinGen TOPMed |
|
|
CA4154649 rs768263869 |
159 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA153333022 rs988817844 |
159 | G>W | No |
ClinGen TOPMed |
|
|
rs1204519026 CA366760459 |
160 | G>A | No |
ClinGen gnomAD |
|
|
rs1204519026 CA366760460 |
160 | G>E | No |
ClinGen gnomAD |
|
|
CA4154648 rs748850125 |
161 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1562486959 CA366760446 |
162 | M>T | No |
ClinGen Ensembl |
|
|
rs369592065 CA4154645 |
163 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369592065 CA4154646 |
163 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366760432 rs1583297519 |
164 | P>L | No |
ClinGen Ensembl |
|
|
rs373716557 CA4154643 |
165 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1484587198 CA366760404 |
169 | G>D | No |
ClinGen gnomAD |
|
|
rs764347543 CA4154641 |
169 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4154640 rs764347543 |
169 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4154639 rs758440866 |
170 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs765378006 CA4154637 |
171 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760467248 CA4154636 |
171 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA366760391 rs1335078474 |
172 | H>N | No |
ClinGen gnomAD |
|
|
rs774118867 CA4154632 |
174 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs761752966 CA4154633 |
174 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs969525296 CA153332966 |
174 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1583297491 CA366760373 |
175 | S>G | No |
ClinGen Ensembl |
|
|
rs748972644 CA4154630 |
176 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1241546776 CA366760354 |
177 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs769351901 CA4154628 |
179 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1349847632 CA366760332 |
180 | Q>H | No |
ClinGen TOPMed |
|
|
rs746357939 CA4154627 |
180 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442241278 CA366760321 |
182 | L>F | No |
ClinGen TOPMed |
|
|
CA366760320 rs1309333980 |
182 | L>P | No |
ClinGen TOPMed |
|
|
CA4154626 rs201712613 |
183 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA153332872 rs1014534972 |
184 | G>V | No |
ClinGen Ensembl |
|
|
rs757596213 CA4154623 |
186 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747411837 CA4154622 |
189 | A>G | No |
ClinGen ExAC |
|
|
CA366760263 rs201638323 |
191 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366760265 rs1401774533 |
191 | S>T | No |
ClinGen Ensembl |
|
|
rs758563828 CA366760260 |
192 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758563828 CA4154620 |
192 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778788059 CA4154618 |
193 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs755149645 CA4154617 |
196 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs200639950 CA4154616 |
197 | I>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1438346108 CA366760225 |
197 | I>V | No |
ClinGen TOPMed |
|
|
CA153332816 rs768381133 |
199 | L>F | No |
ClinGen Ensembl |
|
|
rs751354396 CA366760163 |
203 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA153332789 rs904286075 |
204 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs200613175 CA4154612 |
204 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4154611 rs762447137 |
207 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs758965312 CA153332783 |
208 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4154610 rs775280116 |
210 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4154609 rs769172638 |
210 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4154607 rs777088719 |
211 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4154608 rs759135299 |
211 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140011587 CA4154606 |
212 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747533000 CA153332734 |
213 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4154605 rs747533000 |
213 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4154604 COSM1673021 rs368162869 |
215 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs778993834 CA153332706 |
216 | S>N | No |
ClinGen gnomAD |
|
|
rs779247461 CA4154601 |
217 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs780307587 CA4154598 |
219 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1363764030 CA366759807 |
220 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA366759793 rs757204352 CA4154597 |
221 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150658643 CA4154595 |
223 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1184491552 CA366759719 |
225 | F>L | No |
ClinGen gnomAD |
|
|
rs374211083 CA4154594 |
226 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 227 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4154567 rs768031457 |
228 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 228 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4154566 rs762253271 |
229 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs774723594 CA4154565 |
230 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs199661837 CA4154564 |
231 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1338389241 CA366758567 |
232 | P>R | No |
ClinGen gnomAD |
|
|
rs749517533 CA4154563 |
232 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4154562 rs775914751 |
233 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA366758547 rs769973748 CA4154561 |
233 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs745983401 CA4154560 |
234 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs376177676 CA4154559 |
235 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4154558 rs758307012 |
236 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA366758481 rs1461446157 |
237 | A>T | No |
ClinGen gnomAD |
|
|
rs148006210 CA4154556 |
237 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371906463 CA4154554 |
239 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755797799 CA4154552 |
240 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA366758423 rs1307156889 |
242 | L>F | No |
ClinGen gnomAD |
|
|
CA4154550 rs766954204 |
243 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA4154549 rs555568853 |
244 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774787611 CA4154548 |
245 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4154547 rs764506262 |
246 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs373303378 CA153330387 |
246 | Q>R | No |
ClinGen Ensembl |
|
|
CA366758379 CA4154546 rs200368991 |
247 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366758361 rs1289270106 |
249 | I>M | No |
ClinGen gnomAD |
|
|
rs1168678335 CA366758368 |
249 | I>V | No |
ClinGen TOPMed |
|
|
CA153330379 rs924849387 |
250 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs921247706 CA153330362 |
251 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA366758340 rs1358564923 |
252 | N>S | No |
ClinGen gnomAD |
|
|
rs1157462848 CA366758333 |
253 | Q>* | No |
ClinGen gnomAD |
|
|
CA366758334 rs1157462848 |
253 | Q>E | No |
ClinGen gnomAD |
|
|
CA366758257 rs1459548780 |
256 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA366758230 rs977601175 |
257 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1184936601 CA366758225 |
258 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs770099425 CA4154544 |
259 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366758171 rs1288936012 |
260 | C>F | No |
ClinGen TOPMed |
|
|
CA366758175 rs1288936012 |
260 | C>Y | No |
ClinGen TOPMed |
|
|
CA4154542 rs368282022 |
261 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746114789 CA4154543 |
261 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4154541 rs200152436 |
262 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366758108 rs1277220217 |
263 | P>L | No |
ClinGen TOPMed |
|
|
CA153330325 rs962780128 |
267 | Q>* | No |
ClinGen Ensembl |
|
|
rs1233908896 CA366757809 |
268 | E>K | No |
ClinGen TOPMed |
|
|
CA366757777 rs1319142544 |
269 | A>G | No |
ClinGen TOPMed |
|
|
CA366757787 rs1308121983 |
269 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 273 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4154504 CA4154505 rs200811468 |
274 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366757716 rs1583294381 |
274 | E>V | No |
ClinGen Ensembl |
|
|
rs760031469 CA4154503 |
276 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376414963 CA153327701 |
277 | N>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4154502 rs754065964 |
277 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA366757659 rs754065964 |
277 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA366757631 rs1453387490 |
279 | H>D | No |
ClinGen TOPMed |
|
|
CA366757625 rs1421895293 |
279 | H>R | No |
ClinGen gnomAD |
|
|
CA4154500 rs760981467 |
281 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368662898 CA4154499 |
282 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366757556 rs542591056 |
283 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 284 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA153327684 rs138504843 |
284 | F>S | No |
ClinGen ESP |
|
|
CA366757532 rs1417096777 |
285 | A>P | No |
ClinGen TOPMed |
|
|
rs1196797010 CA366757523 |
285 | A>V | No |
ClinGen gnomAD |
|
|
rs762877574 CA366757517 |
286 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA4154497 COSM1202977 rs762877574 |
286 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs574498107 CA4154496 |
287 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs574498107 CA4154495 |
287 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs574498107 CA4154494 |
287 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4154490 rs746686098 |
289 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366757487 rs758677950 |
291 | W>* | No |
ClinGen TOPMed |
|
|
CA153327629 rs758677950 |
291 | W>C | No |
ClinGen TOPMed |
|
|
CA4154489 rs376201358 |
292 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4154487 rs748647802 |
293 | L>F | No |
ClinGen ExAC |
|
|
CA4154486 rs779609542 |
294 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366757476 rs779609542 |
294 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306804230 CA366757455 |
296 | Y>C | No |
ClinGen TOPMed |
|
|
rs1583294306 CA366757428 |
298 | N>T | No |
ClinGen Ensembl |
|
|
rs1444117060 CA366757402 |
299 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA366757395 rs1399167923 |
300 | L>F | No |
ClinGen gnomAD |
|
|
COSM1091281 CA4154483 rs370961036 |
301 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA366757367 rs1478011750 |
302 | G>E | No |
ClinGen gnomAD |
|
|
CA366757370 rs1171314628 |
302 | G>R | No |
ClinGen gnomAD |
|
|
rs750714669 CA4154481 |
307 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs767575988 CA4154480 |
308 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1176398313 CA366757289 |
308 | G>S | No |
ClinGen TOPMed |
|
|
rs761929368 CA4154477 |
309 | D>A | No |
ClinGen ExAC |
|
|
CA153327544 rs200601875 |
309 | D>E | No |
ClinGen 1000Genomes TOPMed |
|
|
CA4154479 rs761929368 |
309 | D>G | No |
ClinGen ExAC |
|
|
CA366756325 rs1156932306 |
310 | C>W | No |
ClinGen TOPMed |
|
| TCGA novel | 312 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366756287 rs1256029413 |
313 | S>I | No |
ClinGen TOPMed |
|
|
CA366756260 rs1583291108 |
315 | T>I | No |
ClinGen Ensembl |
|
|
CA4154454 rs144616153 |
316 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366756258 rs144616153 |
316 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366756233 rs1352304041 |
317 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 318 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766073926 CA4154452 |
318 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181098101 CA366756228 |
318 | Y>D | No |
ClinGen TOPMed |
|
|
CA4154450 rs772964388 |
321 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1376594468 CA366756180 |
321 | V>F | No |
ClinGen gnomAD |
|
|
CA366756177 rs1341642138 |
322 | G>R | No |
ClinGen gnomAD |
|
|
CA366756146 rs149102582 |
324 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4154447 rs149102582 |
324 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA153323147 rs956174371 |
325 | Q>K | No |
ClinGen TOPMed |
|
|
rs574494201 CA153323146 |
327 | N>D | No |
ClinGen gnomAD |
|
|
CA366756078 rs1409908496 |
327 | N>S | No |
ClinGen TOPMed |
|
|
CA366756064 rs1359944179 |
328 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4154446 rs768282764 |
328 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1411912992 CA366756036 |
329 | H>D | No |
ClinGen gnomAD |
|
|
CA4154442 rs150344520 |
331 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770024269 CA4154443 |
331 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150344520 CA366755982 |
331 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366755935 rs1487960959 |
333 | I>M | No |
ClinGen gnomAD |
|
|
rs1268965639 CA366755933 |
334 | L>M | No |
ClinGen gnomAD |
|
|
CA4154441 rs781559980 |
336 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1270315512 CA366755879 |
337 | T>A | No |
ClinGen gnomAD |
|
|
rs1226199481 CA366755850 |
338 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs559697759 CA4154437 |
339 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4154438 rs559697759 |
339 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1280531892 CA366755776 |
341 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA366755779 rs1280531892 |
341 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs753692734 CA4154436 |
341 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA4154435 rs370672193 |
342 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366755739 rs1340507739 |
343 | D>E | No |
ClinGen gnomAD |
|
|
rs140347773 CA4154434 |
345 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1257026963 CA366755706 |
346 | H>N | No |
ClinGen TOPMed |
|
|
CA153323047 rs951817997 |
346 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1438708519 CA366755699 |
346 | H>R | No |
ClinGen gnomAD |
|
|
CA4154433 rs201562957 |
347 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366755646 rs993199047 |
349 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs767427403 CA4154432 |
350 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1562483453 CA366755615 |
352 | K>E | No |
ClinGen Ensembl |
|
|
CA366754757 rs1583289980 |
355 | E>D | No |
ClinGen Ensembl |
|
|
CA4154399 rs755167820 COSM1249666 |
355 | E>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1035976633 CA153321584 |
357 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1464469250 CA366754745 |
358 | F>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 359 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4154397 rs781319550 |
360 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA366754723 rs1231346406 |
361 | A>T | No |
ClinGen TOPMed |
|
|
CA4154396 rs373616361 |
361 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA366754717 rs1583289928 |
362 | L>P | No |
ClinGen Ensembl |
|
|
CA366754719 rs1378045951 |
362 | L>V | No |
ClinGen gnomAD |
|
|
CA366754712 rs1257286625 |
363 | D>G | No |
ClinGen gnomAD |
|
|
CA4154394 rs763811319 |
363 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs564921259 CA366754702 |
364 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758004714 CA4154393 |
364 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4154391 rs764710992 |
365 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs147691133 CA4154390 |
366 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1284018891 CA366754685 |
367 | E>G | No |
ClinGen gnomAD |
|
|
CA4154388 rs766831968 |
368 | S>C | No |
ClinGen ExAC |
|
|
rs1181806808 CA366754662 |
369 | V>A | No |
ClinGen TOPMed |
|
|
rs761108302 CA366754668 |
369 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs761108302 CA4154387 |
369 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1258654045 CA366754640 |
371 | V>F | No |
ClinGen TOPMed |
|
|
rs772326369 CA4154385 |
372 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366754621 rs1562482865 |
372 | A>V | No |
ClinGen Ensembl |
|
|
CA4154384 rs147821971 |
374 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4154383 rs774765283 |
374 | R>S | No |
ClinGen ExAC |
|
|
CA153321475 rs147821971 |
374 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1562482850 CA366754566 |
376 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 376 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366754557 rs780307690 |
377 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4154378 rs780307690 |
377 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757164150 CA4154377 |
378 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA366754535 rs757164150 |
378 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1401821059 CA366754542 |
378 | S>T | No |
ClinGen gnomAD |
|
|
CA366753087 rs754155782 |
381 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs754155782 CA4154301 |
381 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA366753072 rs1433645596 |
382 | V>A | No |
ClinGen TOPMed |
|
|
CA153317833 rs930306789 |
382 | V>I | No |
ClinGen TOPMed |
|
|
rs1432124060 CA366753065 |
383 | L>F | No |
ClinGen gnomAD |
|
|
rs766354107 CA4154300 |
384 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422561428 CA366753058 |
384 | T>P | No |
ClinGen gnomAD |
|
|
rs766354107 CA366753050 |
384 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773313732 CA4154298 |
385 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA366753045 rs1241940480 |
385 | D>N | No |
ClinGen TOPMed |
|
|
rs376696645 CA4154297 |
386 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366753031 rs762892017 |
386 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs762892017 CA4154296 |
386 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs375238607 CA4154295 |
387 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366753018 rs1214251083 |
388 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM1196566 CA4154293 rs745496150 |
388 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs202169724 CA4154291 |
389 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777443208 CA4154290 |
390 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777443208 CA4154289 |
390 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs997973282 CA366752964 |
392 | V>L | No |
ClinGen TOPMed |
|
|
rs997973282 CA153317760 |
392 | V>M | No |
ClinGen TOPMed |
|
|
rs1307483032 CA366752948 |
393 | L>P | No |
ClinGen gnomAD |
|
|
CA366752931 rs748693146 |
394 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1221021685 CA366752942 |
394 | D>Y | No |
ClinGen gnomAD |
|
|
rs371015340 CA4154286 |
395 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366752913 rs1447844680 |
396 | E>* | No |
ClinGen gnomAD |
|
|
rs1393474290 CA366752866 |
399 | V>G | No |
ClinGen TOPMed |
|
|
rs372411593 CA4154285 |
400 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372411593 CA153317726 |
400 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372411593 CA153317721 |
400 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366752839 rs1461366918 |
401 | D>E | No |
ClinGen gnomAD |
|
|
CA4154284 rs147869784 |
402 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147869784 CA366752838 |
402 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4154283 rs79783938 |
402 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA153317716 rs147869784 |
402 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756352348 CA4154282 |
403 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366752831 rs1394007272 |
404 | A>T | No |
ClinGen gnomAD |
|
|
CA366752826 rs1178835004 |
404 | A>V | No |
ClinGen gnomAD |
|
|
rs1441237905 CA366752821 |
405 | H>R | No |
ClinGen gnomAD |
|
|
rs1240402616 CA366752816 |
406 | K>E | No |
ClinGen gnomAD |
|
|
CA366752813 rs1175864555 |
406 | K>R | No |
ClinGen gnomAD |
|
|
CA366752814 rs1175864555 |
406 | K>T | No |
ClinGen gnomAD |
|
|
CA366773786 rs1350816956 |
407 | G>V | No |
ClinGen gnomAD |
|
|
rs368078999 CA4154257 |
408 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1253707770 CA366773764 |
410 | Q>E | No |
ClinGen TOPMed |
|
|
rs771458012 CA4154251 |
414 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4154253 rs760399070 |
414 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4154250 rs374144752 |
415 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1294300951 CA366773683 |
418 | R>* | No |
ClinGen gnomAD |
|
|
CA4154247 rs114433257 |
418 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366773657 rs1562479466 |
420 | I>S | No |
ClinGen Ensembl |
|
| TCGA novel | 421 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4154245 rs376312112 |
421 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA153385453 rs1005030700 |
422 | D>E | No |
ClinGen gnomAD |
|
|
rs770206185 CA4154244 |
422 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746072716 CA4154243 |
423 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA153385446 rs996814688 |
423 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA153385433 rs561866456 |
425 | L>* | No |
ClinGen Ensembl |
|
|
rs1583282926 CA366773573 |
427 | Q>H | No |
ClinGen Ensembl |
|
|
rs1398492667 CA366773567 |
428 | A>P | No |
ClinGen TOPMed |
|
|
rs1192581348 CA366773550 |
429 | F>L | No |
ClinGen gnomAD |
|
|
rs747058673 CA4154240 |
430 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1255164045 CA366773539 |
430 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1467841495 CA366773523 |
432 | A>P | No |
ClinGen gnomAD |
|
|
CA4154216 rs552290749 |
434 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366773475 rs552290749 |
434 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4154214 rs116033384 |
436 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4154213 rs377177640 |
436 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs116033384 CA4154215 |
436 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366773438 rs1434264892 |
438 | V>G | No |
ClinGen gnomAD |
|
|
rs1310770758 CA366773432 |
439 | I>L | No |
ClinGen TOPMed |
|
|
CA4154211 rs148790894 |
439 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4154209 rs775015253 |
441 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA4154210 rs775015253 |
441 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1468386352 CA366773397 |
443 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 444 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765687862 CA4154208 |
444 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1254704540 CA366773373 |
445 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs541853916 CA4154206 |
445 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4154203 rs747489985 |
446 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760935184 CA4154204 |
446 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA366773361 rs747489985 |
446 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366773352 rs1348947538 |
447 | G>A | No |
ClinGen gnomAD |
|
|
CA366773350 rs1348947538 |
447 | G>E | No |
ClinGen gnomAD |
|
|
rs150032698 CA4154198 |
447 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4154197 rs562821861 |
448 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4154194 rs781028540 |
450 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366773320 rs116541573 |
451 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1349703502 CA366773304 |
453 | A>D | No |
ClinGen TOPMed |
|
|
CA366773290 rs1320495428 |
455 | M>V | No |
ClinGen gnomAD |
|
|
rs1055430 CA4154191 |
456 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs558379763 CA4154189 |
457 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1415623635 CA366773247 |
459 | A>T | No |
ClinGen gnomAD |
|
|
CA4154187 rs764727407 |
460 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA4154186 rs754358442 |
461 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4154185 rs754358442 |
461 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 462 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs572220080 CA4154183 |
462 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366773205 rs1226363594 |
464 | R>G | No |
ClinGen TOPMed |
|
|
CA366773195 rs1337312260 |
465 | C>S | No |
ClinGen gnomAD |
|
|
CA366773170 rs1318401501 |
467 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs768917424 CA4154177 |
468 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757552164 CA153385045 |
469 | S>A | No |
ClinGen Ensembl |
|
|
rs781034105 CA4154175 |
471 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA153385015 rs372658615 |
472 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1562479268 CA366773118 |
472 | R>L | No |
ClinGen Ensembl |
|
|
rs1562479268 CA366773119 |
472 | R>P | No |
ClinGen Ensembl |
|
|
rs1562479268 CA366773120 |
472 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA4154173 rs372658615 |
472 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1562479261 CA366773093 |
475 | W>* | No |
ClinGen Ensembl |
|
|
rs1583279069 CA366771879 |
477 | K>E | No |
ClinGen Ensembl |
|
|
CA153381346 rs991605147 |
477 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1237271418 CA366771869 |
478 | A>T | No |
ClinGen TOPMed |
|
|
rs771820883 CA4154133 |
478 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1262917665 CA366771823 |
481 | E>D | No |
ClinGen gnomAD |
|
|
rs747896238 CA4154132 |
481 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA366771813 rs1296344307 |
482 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs774151497 CA4154131 |
482 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 482 | Y>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs941800217 CA153381322 |
484 | Q>H | No |
ClinGen Ensembl |
|
|
rs758391168 CA4154129 |
487 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779418437 CA4154128 |
488 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4154125 rs537908568 |
491 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4154126 rs537908568 |
491 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs148059863 CA4154123 |
492 | L>M | No |
ClinGen ESP ExAC TOPMed |
|
|
CA153381299 rs570581666 |
495 | D>E | No |
ClinGen 1000Genomes |
|
|
rs375202452 CA4154122 |
495 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4154121 rs758540406 |
496 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366771630 rs1426455501 |
496 | V>M | No |
ClinGen TOPMed |
|
|
CA366771603 rs1410671755 |
498 | P>A | No |
ClinGen gnomAD |
|
|
rs758995609 COSM1718575 CA366771590 |
499 | R>K | NS [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs758995609 CA153381293 |
499 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4154120 rs753017277 |
499 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs143624783 CA4154101 |
500 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1395726145 CA366771519 |
501 | S>G | No |
ClinGen gnomAD |
|
|
rs1460388007 CA366771450 |
506 | E>K | No |
ClinGen gnomAD |
|
|
CA4154099 rs766451252 |
507 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766451252 CA4154098 |
507 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366771403 rs1430483233 |
508 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA366771408 rs1193994403 |
508 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA366771375 rs1259945394 |
510 | R>G | No |
ClinGen gnomAD |
|
|
CA366771356 rs761734810 |
511 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA153381140 rs761734810 |
511 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761734810 CA4154097 |
511 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366771351 rs1254731840 |
512 | I>L | No |
ClinGen gnomAD |
|
|
rs751547204 CA4154096 |
512 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs562661517 CA366771333 |
514 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs562661517 CA4154095 |
514 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149326625 CA4154094 |
514 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4154093 rs775171923 |
515 | V>E | No |
ClinGen ExAC |
|
|
CA366771314 rs1264293298 |
516 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA366771308 rs759270435 |
517 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759270435 CA4154091 |
517 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4154090 rs1133850 |
517 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747492916 CA366771296 |
518 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4154088 rs747492916 |
518 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201050487 CA153381089 |
518 | H>Q | No |
ClinGen 1000Genomes |
|
|
rs747492916 CA153381096 |
518 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328360810 CA366771286 |
519 | C>Y | No |
ClinGen gnomAD |
|
|
CA4154086 rs772484984 |
520 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA4154085 rs545934437 |
520 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366771248 rs1463572097 |
522 | P>R | No |
ClinGen gnomAD |
|
|
CA4154084 rs779158305 |
522 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4154082 rs755125710 |
523 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774878588 CA4154046 |
526 | I>V | No |
ClinGen ExAC |
|
|
rs749607702 CA153378741 |
529 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749607702 CA4154044 |
529 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366770738 rs991135291 |
530 | G>A | No |
ClinGen TOPMed |
|
|
CA153378730 rs1023596095 |
530 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs991135291 CA153378725 |
530 | G>V | No |
ClinGen TOPMed |
|
|
rs778313497 CA153378722 |
532 | W>* | No |
ClinGen Ensembl |
|
|
CA4154042 rs769939855 |
533 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA4154041 rs368066544 |
534 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA4154040 rs368066544 |
534 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA153378708 rs368066544 |
534 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs748083947 COSM1202980 CA4154038 |
536 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA366770614 rs1423631493 |
538 | G>E | No |
ClinGen TOPMed |
|
|
rs1583276715 CA366770594 |
539 | N>T | No |
ClinGen Ensembl |
|
|
rs539139711 CA4154035 |
540 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs140957721 CA4154034 |
541 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366770563 rs1167474994 |
541 | N>K | No |
ClinGen TOPMed |
|
|
CA4154033 rs779998492 |
541 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA366770533 rs1387687576 |
543 | L>W | No |
ClinGen gnomAD |
|
|
rs1463003111 CA366770507 |
545 | T>A | No |
ClinGen gnomAD |
|
|
rs80259222 CA4154030 |
545 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs80259222 CA4154031 |
545 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142949443 CA4154028 |
546 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs139770982 CA4154027 |
546 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4154023 rs377599203 |
549 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377599203 CA4154022 |
549 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201260643 CA4154024 CA4154025 |
549 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 550 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747008150 CA4154020 |
550 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366770430 rs747008150 |
550 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4154021 rs771212844 |
550 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs191768393 CA4154018 |
551 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA153378575 rs912736881 |
553 | E>* | No |
ClinGen Ensembl |
|
|
CA4154017 rs369600048 |
553 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366770345 rs1583276635 |
554 | V>A | No |
ClinGen Ensembl |
|
|
rs779980426 CA4154016 |
556 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1583276626 CA366770302 |
557 | Q>H | No |
ClinGen Ensembl |
|
|
CA4154015 rs755911500 |
557 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA366770297 rs1326348907 |
558 | P>S | No |
ClinGen gnomAD |
|
|
CA366770299 rs1326348907 |
558 | P>T | No |
ClinGen gnomAD |
|
|
rs1427307944 CA366770272 |
560 | L>P | No |
ClinGen TOPMed |
|
|
rs1427307944 CA366770269 |
560 | L>R | No |
ClinGen TOPMed |
|
|
CA4154014 rs146836483 |
560 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA366770251 rs1410022009 |
561 | G>E | No |
ClinGen gnomAD |
|
|
rs531002411 CA4154010 |
561 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366770243 rs1421102254 |
562 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1421102254 CA366770249 |
562 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1165776577 CA366770213 |
563 | Q>H | No |
ClinGen gnomAD |
|
|
CA366770198 rs1448508745 |
564 | S>I | No |
ClinGen gnomAD |
|
|
rs985561468 CA153378525 |
566 | L>V | No |
ClinGen Ensembl |
|
|
CA4154009 COSM1091277 rs763440209 |
567 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs143835290 COSM1202979 CA4154006 |
568 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs143835290 CA366770148 |
568 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369940779 CA4154005 |
568 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs369940779 CA366770141 |
568 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369940779 CA366770144 |
568 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4154004 rs771003964 |
570 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA366770112 rs771003964 |
570 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA366770108 rs1304114260 |
570 | S>Y | No |
ClinGen TOPMed |
|
|
CA4154003 rs371471173 |
571 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366770093 rs371471173 |
571 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366770102 rs1438462799 |
571 | P>S | No |
ClinGen gnomAD |
|
|
rs772337652 CA4154001 |
572 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341730386 CA366770082 |
572 | A>S | No |
ClinGen gnomAD |
|
|
rs1365291231 CA366770070 |
573 | Y>D | No |
ClinGen gnomAD |
|
|
rs1365291231 CA366770072 |
573 | Y>H | No |
ClinGen gnomAD |
|
|
CA4154000 rs139853315 |
574 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1442907965 CA366770014 |
576 | S>P | No |
ClinGen gnomAD |
|
|
CA366769989 rs559048976 |
577 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769792440 CA4153998 |
578 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA153378445 rs868281554 |
580 | P>S | No |
ClinGen Ensembl |
|
|
rs1428661357 CA366769921 |
581 | L>V | No |
ClinGen gnomAD |
|
|
rs145984096 CA4153997 |
583 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368005165 CA153378431 |
584 | S>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1228685001 CA366769865 |
584 | S>T | No |
ClinGen gnomAD |
|
|
rs1455831221 CA366769845 |
585 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4153995 rs756853830 |
586 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366769808 rs960883296 CA366769807 |
587 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1191277948 CA366769818 |
587 | Y>N | No |
ClinGen TOPMed |
|
|
CA366769816 rs1583276555 |
587 | Y>S | No |
ClinGen Ensembl |
|
|
CA153378399 rs1034871158 |
588 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs149455276 CA4153992 |
589 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4153991 rs765616195 |
589 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4153990 rs765616195 |
589 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149455276 CA4153993 |
589 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766835420 CA366769739 |
594 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4153985 rs766835420 |
594 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs760967486 CA4153984 |
595 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA366769722 rs1285852745 |
596 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs139753251 RCV000950411 CA4153983 |
596 | I>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA366769703 rs1355584636 |
597 | I>F | No |
ClinGen gnomAD |
|
|
CA153378332 rs896201413 |
597 | I>M | No |
ClinGen gnomAD |
|
|
CA366769692 rs1464283941 |
598 | H>P | No |
ClinGen gnomAD |
|
|
CA4153980 rs774502686 |
601 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366769661 rs1446313804 |
601 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 602 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA153378317 rs866999970 |
602 | E>K | No |
ClinGen Ensembl |
|
|
CA366769627 rs1180714538 |
604 | A>D | No |
ClinGen gnomAD |
|
|
rs867702263 CA153378298 |
604 | A>T | No |
ClinGen gnomAD |
|
|
CA366769625 rs1180714538 |
604 | A>V | No |
ClinGen gnomAD |
|
|
CA4153979 rs769550995 |
605 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1028703911 CA153378280 |
606 | G>R | No |
ClinGen TOPMed |
|
|
rs201911372 CA366769602 |
607 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201911372 CA4153976 |
607 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4153977 rs543787333 |
607 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1583276385 CA366769557 |
608 | F>V | No |
ClinGen Ensembl |
|
|
rs774094907 CA4153931 |
609 | G>V | No |
ClinGen ExAC |
|
|
rs748783259 CA4153929 |
610 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA366769524 rs1206095624 |
611 | C>R | No |
ClinGen gnomAD |
|
|
CA4153928 rs141322626 |
612 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1562475962 CA366769487 |
615 | H>R | No |
ClinGen Ensembl |
|
|
rs138947170 CA4153925 |
616 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746434139 CA366769458 |
617 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA4153922 rs757677803 |
618 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371012241 CA4153923 |
618 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4153921 rs751896933 |
621 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA4153920 rs376704956 |
622 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1562475946 CA366769369 COSM260360 |
623 | E>K | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA153377885 rs201856301 |
624 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201856301 CA4153918 |
624 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366769339 rs1396412736 |
625 | E>K | No |
ClinGen gnomAD |
|
|
CA4153916 rs199735881 |
627 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199735881 CA153377869 |
627 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1379222612 CA366769286 |
628 | K>R | No |
ClinGen gnomAD |
|
|
rs1379222612 CA366769288 |
628 | K>T | No |
ClinGen gnomAD |
|
|
CA153377840 rs767269752 |
629 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA4153913 rs373718109 |
631 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1053533900 CA153377800 |
631 | I>T | No |
ClinGen Ensembl |
|
|
CA153377768 rs200184220 |
633 | P>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs139129432 CA4153909 |
633 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1049788006 CA153377720 |
634 | K>E | No |
ClinGen Ensembl |
|
|
rs143267120 CA4153905 |
634 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4153903 rs771359779 |
636 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149164893 CA4153901 |
637 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755091158 CA4153896 CA366768840 |
638 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA4153897 rs201602908 |
638 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4153898 rs748429994 |
638 | D>N | No |
ClinGen ExAC TOPMed |
|
|
rs920112691 CA153377652 |
639 | H>Y | No |
ClinGen Ensembl |
|
|
rs1379579301 CA366768827 |
640 | M>R | No |
ClinGen TOPMed |
|
|
rs111534582 CA153377636 |
641 | P>S | No |
ClinGen Ensembl |
|
|
rs138127497 CA4153894 |
643 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757156328 CA4153893 |
645 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1465437309 CA366768795 |
645 | M>T | No |
ClinGen gnomAD |
|
|
CA4153892 rs138713047 |
646 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201087247 CA366768790 |
646 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4153890 rs201087247 |
646 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4153891 COSM601992 rs138713047 |
646 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs775320101 CA4153889 |
647 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs775320101 CA153377622 |
647 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4153886 rs372411793 |
649 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4153884 rs747539498 |
651 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1269288487 CA366768757 |
652 | V>F | No |
ClinGen gnomAD |
|
|
CA153377561 rs779069551 |
654 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4153882 rs140707721 |
654 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140707721 CA4153881 COSM377702 |
654 | D>N | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs749309835 CA4153879 |
655 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749309835 CA4153878 |
655 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4153877 RCV000947000 rs145993691 |
656 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4153876 rs757205077 |
656 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs368954918 CA153377532 |
657 | A>D | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 657 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763916685 CA366768720 |
658 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1562475789 CA366768724 |
658 | C>R | No |
ClinGen Ensembl |
|
|
RCV000886641 rs116243689 CA4153872 |
659 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs116243689 CA4153873 |
659 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1165053137 CA366768711 |
660 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1008674513 CA153377478 |
661 | C>S | No |
ClinGen gnomAD |
|
|
rs1008674513 CA366768705 |
661 | C>Y | No |
ClinGen gnomAD |
|
|
CA4153871 rs376036204 |
662 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs371750309 CA4153870 |
662 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4153868 rs2303361 VAR_027275 |
664 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1583276192 CA366768674 |
666 | V>G | No |
ClinGen Ensembl |
|
|
rs199951557 CA4153865 |
666 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs932753389 CA153377432 |
667 | S>Y | No |
ClinGen Ensembl |
|
|
CA366768665 rs375537082 |
668 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA153377413 rs375537082 |
668 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366768664 rs774711011 |
668 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4153864 rs375537082 |
668 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366768662 rs1358610247 |
669 | V>M | No |
ClinGen gnomAD |
|
|
rs1244409871 CA366768652 |
670 | D>G | No |
ClinGen gnomAD |
|
|
CA4153860 rs148435637 |
671 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs769803026 CA4153859 |
673 | A>S | No |
ClinGen ExAC gnomAD |
No associated diseases with Q8NCG7
1 regional properties for Q8NCG7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Fungal lipase-like domain | 370 - 503 | IPR002921 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.1.3 | Carboxylic ester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| acylglycerol lipase activity | Catalysis of the reaction: H2O + acylglycerol = a fatty acid + glycerol. |
| lipase activity | Catalysis of the hydrolysis of a lipid or phospholipid. |
| metal ion binding | Binding to a metal ion. |
| triglyceride lipase activity | Catalysis of the reaction: triacylglycerol + H2O = diacylglycerol + a carboxylate. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| arachidonic acid metabolic process | The chemical reactions and pathways involving arachidonic acid, a straight chain fatty acid with 20 carbon atoms and four double bonds per molecule. Arachidonic acid is the all-Z-(5,8,11,14)-isomer. |
| endocannabinoid signaling pathway | The series of molecular signals generated as a consequence of an endocannabinoid binding to a cell surface receptor. The pathway proceeds with the receptor transmitting the signal to a heterotrimeric G-protein complex and ends with regulation of a downstream cellular process, e.g. transcription. Endocannabinoids are small molecules derived from arachidonic acid, anandamide (arachidonoylethanolamide) and 2-arachidonoylglycerol. |
| lipid catabolic process | The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. |
| neuroblast proliferation | The expansion of a neuroblast population by cell division. A neuroblast is any cell that will divide and give rise to a neuron. |
| neurogenesis | Generation of cells within the nervous system. |
| neurotransmitter biosynthetic process | The chemical reactions and pathways resulting in the formation of any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell. |
| positive regulation of triglyceride catabolic process | Any process that increases the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of triglyceride. |
| prostaglandin biosynthetic process | The chemical reactions and pathways resulting in the formation of prostaglandins, any of a group of biologically active metabolites which contain a cyclopentane ring. |
| regulation of inflammatory response | Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPGMVLFGRR | WAIASDDLVF | PGFFELVVRV | LWWIGILTLY | LMHRGKLDCA | GGALLSSYLI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VLMILLAVVI | CTVSAIMCVS | MRGTICNPGP | RKSMSKLLYI | RLALFFPEMV | WASLGAAWVA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DGVQCDRTVV | NGIIATVVVS | WIIIAATVVS | IIIVFDPLGG | KMAPYSSAGP | SHLDSHDSSQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LLNGLKTAAT | SVWETRIKLL | CCCIGKDDHT | RVAFSSTAEL | FSTYFSDTDL | VPSDIAAGLA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LLHQQQDNIR | NNQEPAQVVC | HAPGSSQEAD | LDAELENCHH | YMQFAAAAYG | WPLYIYRNPL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TGLCRIGGDC | CRSRTTDYDL | VGGDQLNCHF | GSILHTTGLQ | YRDFIHVSFH | DKVYELPFLV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ALDHRKESVV | VAVRGTMSLQ | DVLTDLSAES | EVLDVECEVQ | DRLAHKGISQ | AARYVYQRLI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NDGILSQAFS | IAPEYRLVIV | GHSLGGGAAA | LLATMLRAAY | PQVRCYAFSP | PRGLWSKALQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EYSQSFIVSL | VLGKDVIPRL | SVTNLEDLKR | RILRVVAHCN | KPKYKILLHG | LWYELFGGNP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NNLPTELDGG | DQEVLTQPLL | GEQSLLTRWS | PAYSFSSDSP | LDSSPKYPPL | YPPGRIIHLQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EEGASGRFGC | CSAAHYSAKW | SHEAEFSKIL | IGPKMLTDHM | PDILMRALDS | VVSDRAACVS |
| 670 | |||||
| CPAQGVSSVD | VA |