Q08AH3
PR
Gene name |
ACSM2A (ACSM2, MACS2) |
Protein name |
Acyl-coenzyme A synthetase ACSM2A, mitochondrial |
Names |
Acyl-CoA synthetase medium-chain family member 2A, Benzoate--CoA ligase, Butyrate--CoA ligase 2A, Butyryl-coenzyme A synthetase 2A, Middle-chain acyl-CoA synthetase 2A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:123876 |
EC number |
6.2.1.2: Acid--thiol ligases |
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
8 structures for Q08AH3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2VZE | X-ray | 245 A | A/B/C | 32-577 | PDB |
| 2WD9 | X-ray | 260 A | A/B/C | 32-576 | PDB |
| 3B7W | X-ray | 200 A | A | 32-577 | PDB |
| 3C5E | X-ray | 160 A | A | 32-577 | PDB |
| 3DAY | X-ray | 195 A | A | 32-577 | PDB |
| 3EQ6 | X-ray | 240 A | A/B | 32-577 | PDB |
| 3GPC | X-ray | 190 A | A/B | 32-577 | PDB |
| AF-Q08AH3-F1 | Predicted | AlphaFoldDB |
664 variants for Q08AH3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1298909360 CA394983751 |
2 | H>R | No |
ClinGen gnomAD |
|
|
rs1261455053 CA394983746 |
2 | H>Y | No |
ClinGen gnomAD |
|
|
COSM1376391 rs368922104 CA7941028 |
5 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7941030 rs59292608 |
5 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1567357962 CA394983816 |
6 | K>E | No |
ClinGen Ensembl |
|
|
CA7941031 rs752798612 |
6 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7941032 rs139231029 |
7 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394983849 rs1451537478 |
8 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs565557207 CA7941034 |
9 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7941035 rs192229205 |
10 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394983902 rs1368893588 |
11 | C>* | No |
ClinGen gnomAD |
|
|
rs779368041 CA7941036 |
11 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436136360 CA394983894 |
11 | C>G | No |
ClinGen gnomAD |
|
|
CA394983900 rs779368041 |
11 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394983908 rs1596644136 |
12 | T>P | No |
ClinGen Ensembl |
|
|
CA7941037 rs750848675 COSM968062 |
13 | L>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs901945596 CA279283098 |
13 | L>Q | No |
ClinGen TOPMed |
|
|
CA7941038 rs750848675 |
13 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA394983940 rs1302069742 |
14 | W>* | No |
ClinGen gnomAD |
|
|
CA394983947 rs1314527864 |
15 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs372292767 CA7941040 |
16 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394983958 rs372292767 |
16 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372292767 CA7941039 |
16 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7941041 rs137947890 |
17 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7941042 rs369015682 |
18 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA279283134 rs372884357 |
20 | S>G | No |
ClinGen Ensembl |
|
|
CA7941043 rs747811058 |
20 | S>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 20 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7941045 rs769438390 |
21 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7941044 rs769438390 |
21 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7941046 rs375002848 |
21 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7941047 rs375002848 |
21 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394984039 rs1417294632 |
23 | L>P | No |
ClinGen gnomAD |
|
|
RCV000201425 rs142460751 CA210241 |
24 | Y>* | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs140129240 CA7941050 |
24 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394984078 rs754018341 |
25 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256405696 CA394984082 |
25 | I>T | No |
ClinGen gnomAD |
|
|
CA7941051 rs754018341 |
25 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394984120 rs762115260 |
27 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs762115260 CA7941052 |
27 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7941054 rs548664955 |
28 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394984169 rs758752395 |
30 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306854046 CA394984198 |
31 | V>L | No |
ClinGen gnomAD |
|
|
CA7941056 rs766892358 |
32 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221815975 CA394984312 |
35 | W>L | No |
ClinGen gnomAD |
|
|
TCGA novel rs1181528729 CA394984297 |
35 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed gnomAD |
|
CA7941060 rs780884024 |
37 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394984389 rs1479346965 |
37 | H>Y | No |
ClinGen gnomAD |
|
|
rs755771543 CA7941062 |
41 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7941063 rs755771543 |
41 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1165703761 CA394984551 |
42 | A>D | No |
ClinGen gnomAD |
|
|
rs745836498 CA7941067 |
42 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 46 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1307966161 CA394984695 |
47 | A>V | No |
ClinGen gnomAD |
|
|
rs1371787027 CA394984705 |
48 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1371787027 CA394984701 |
48 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs552124276 CA7941070 |
52 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776668743 CA7941069 |
52 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA7941072 rs147663018 |
54 | W>C | No |
ClinGen ESP ExAC |
|
|
rs1381470640 CA394984904 |
55 | A>V | No |
ClinGen TOPMed |
|
|
rs1228560925 CA394984949 |
56 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs372070297 CA7941073 |
57 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394985012 rs534659594 |
59 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7941075 rs752076039 |
59 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA7941074 rs534659594 |
59 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394986962 rs750212713 |
60 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750212713 CA7941101 |
60 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142474503 CA7941102 |
60 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7941106 rs146541514 |
63 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146541514 CA7941108 |
63 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7941109 rs535873217 COSM1708847 |
63 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs557161839 CA279287380 |
64 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
CA394987157 rs7187246 |
64 | L>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7941110 rs7187246 |
64 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394987168 rs7187246 |
64 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7941111 rs772579251 |
65 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1316074812 CA394987193 |
65 | P>R | No |
ClinGen gnomAD |
|
|
rs776024301 CA7941112 |
66 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA7941113 rs761108312 |
68 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA279287437 rs199594429 |
70 | W>* | No |
ClinGen 1000Genomes |
|
|
CA394987317 rs1191894233 |
70 | W>* | No |
ClinGen gnomAD |
|
|
rs764709490 CA7941114 |
70 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228751516 CA394987368 |
71 | W>L | No |
ClinGen TOPMed |
|
|
rs1596651218 CA394987421 |
72 | V>G | No |
ClinGen Ensembl |
|
|
CA394987426 rs1334928131 |
73 | N>D | No |
ClinGen gnomAD |
|
|
CA394987439 rs1246185150 |
73 | N>S | No |
ClinGen gnomAD |
|
|
CA394987497 rs1478667703 |
74 | G>W | No |
ClinGen gnomAD |
|
|
rs1596651241 CA394987506 |
75 | K>E | No |
ClinGen Ensembl |
|
|
CA7941117 rs764852809 |
76 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1309846681 CA394987559 |
76 | G>R | No |
ClinGen TOPMed |
|
|
rs758117831 CA7941119 |
77 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7941121 rs751468197 |
78 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs34655000 CA7941120 |
78 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7941122 rs754851535 |
79 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 79 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1349662791 CA394987677 |
80 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA394987672 rs1277646438 |
80 | M>T | No |
ClinGen gnomAD |
|
|
CA394987661 rs1438558559 |
80 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 81 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394987685 rs1228705457 |
81 | W>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs372896132 CA279287546 |
82 | N>H | No |
ClinGen ESP TOPMed |
|
|
rs1289973279 CA394987741 |
83 | F>I | No |
ClinGen gnomAD |
|
|
rs1052087847 CA279287549 |
84 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA394987793 rs1395824225 |
85 | E>Q | No |
ClinGen TOPMed |
|
|
rs781233119 CA7941124 |
86 | L>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7941123 rs781233119 |
86 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452206375 CA394987825 |
87 | S>C | No |
ClinGen gnomAD |
|
|
CA394987831 rs771194992 |
87 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7941125 rs771194992 |
87 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7941127 rs746093634 |
89 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs775695352 CA7941129 |
90 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7941128 rs772516085 |
90 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs761140638 CA7941130 |
91 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA394987931 rs1374735615 |
92 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA394987933 rs1374735615 |
92 | Q>E | No |
ClinGen TOPMed |
|
| TCGA novel | 92 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1322174168 CA394987958 |
93 | A>E | No |
ClinGen gnomAD |
|
|
rs141326932 CA394987951 |
93 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141326932 CA7941132 |
93 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 93 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394987983 rs761252604 |
95 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1406541252 CA394987981 |
95 | N>S | No |
ClinGen gnomAD |
|
|
rs764727282 CA394987985 |
96 | V>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs764727282 CA7941134 |
96 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 97 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762621307 CA394987998 |
98 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772815519 CA7941135 |
98 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA7941136 rs762621307 |
98 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394988001 rs1242915410 |
99 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394988008 rs375377925 |
100 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7941140 rs767344952 |
100 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs375377925 CA7941141 |
100 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1233006357 CA394988014 |
101 | C>* | No |
ClinGen TOPMed |
|
|
CA7941142 rs376726292 |
101 | C>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA7941143 rs540103440 |
101 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 102 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745993663 CA394988019 |
102 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745993663 CA7941144 |
102 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335458201 CA394988028 |
104 | Q>* | No |
ClinGen TOPMed |
|
|
CA7941145 rs13332099 |
105 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371291843 CA7941146 |
105 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7941147 rs371291843 |
105 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7941148 rs769076032 |
106 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA394988047 rs1368614956 |
107 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1567361998 CA394988043 |
107 | D>Y | No |
ClinGen Ensembl |
|
|
COSM231697 CA7941150 rs376136828 |
108 | R>C | NS skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA394988050 rs376136828 |
108 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs550591285 CA7941152 |
108 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7941151 rs550591285 |
108 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376136828 CA7941149 |
108 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762491911 CA7941153 |
109 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs774111629 CA7941155 |
110 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7941156 rs371502773 |
110 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752642355 CA7941158 |
111 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA394988064 rs752642355 |
111 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs767348557 CA7941157 |
111 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394988069 rs1596651561 |
112 | V>G | No |
ClinGen Ensembl |
|
|
rs62035041 CA7941159 |
112 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM50421 CA394988080 rs1295547004 |
114 | P>L | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA7941161 rs59261767 |
115 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142505782 CA7941163 |
115 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142505782 CA7941162 |
115 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394988084 rs1277319251 |
116 | V>L | No |
ClinGen gnomAD |
|
|
CA7941164 CA394988110 rs780078331 |
119 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146045291 CA7941165 |
120 | W>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394988113 rs1596651614 |
120 | W>G | No |
ClinGen Ensembl |
|
|
CA394988120 rs1555498623 |
121 | L>V | No |
ClinGen Ensembl |
|
|
CA394988128 rs1440072057 |
122 | V>A | No |
ClinGen TOPMed |
|
|
rs1440072057 CA394988127 |
122 | V>G | No |
ClinGen TOPMed |
|
|
rs755253172 CA7941166 |
123 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596651630 CA394988131 |
123 | I>V | No |
ClinGen Ensembl |
|
|
rs1325208398 CA394988143 |
125 | G>R | No |
ClinGen TOPMed |
|
|
rs748565082 CA7941168 |
128 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1518414 rs770257438 CA7941169 |
128 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs773777874 CA394988184 |
129 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7941170 rs773777874 |
129 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410680053 CA394988192 |
129 | A>V | No |
ClinGen gnomAD |
|
|
CA279291244 rs1031618179 |
130 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1353081035 CA394988200 |
130 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7941198 rs181910435 |
131 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 134 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394990039 rs1267099562 |
134 | M>T | No |
ClinGen TOPMed |
|
|
rs765132305 CA7941199 |
136 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs751631831 CA7941200 |
137 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752931737 CA7941204 |
140 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752931737 CA7941203 |
140 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778141702 CA7941205 |
141 | K>E | No |
ClinGen ExAC |
|
|
rs757751055 CA7941207 |
142 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA7941206 rs754250492 |
142 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs757751055 CA394990181 |
142 | S>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 144 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779354856 CA7941208 |
145 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA394990277 rs1457417337 |
147 | Y>* | No |
ClinGen gnomAD |
|
|
CA7941211 rs779783819 |
151 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs536440408 CA7941210 |
151 | M>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745368220 CA7941209 |
151 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA394990340 rs139894295 |
152 | S>A | No |
ClinGen ESP gnomAD |
|
|
rs139894295 CA279291362 |
152 | S>P | No |
ClinGen ESP gnomAD |
|
|
rs746687701 CA7941212 |
154 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 156 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776460642 CA7941214 |
156 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747937806 CA7941215 |
157 | I>V | No |
ClinGen ExAC |
|
|
CA7941216 rs769770056 |
158 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA394990400 rs1475876746 |
159 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7941217 rs548812070 |
160 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs548812070 CA279291393 |
160 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759558004 CA7941218 |
161 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs759558004 CA279291402 |
161 | D>Y | No |
ClinGen ExAC TOPMed |
|
|
rs767590474 CA7941219 |
162 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 165 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA279291447 rs953388361 |
165 | Q>R | No |
ClinGen TOPMed |
|
|
rs760909333 CA7941221 |
166 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs201018160 CA7941222 |
167 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1426506672 CA394990472 |
168 | D>G | No |
ClinGen TOPMed |
|
|
rs754225307 CA7941223 |
169 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs757620051 CA7941225 |
170 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs757620051 CA7941224 |
170 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7941226 rs371691663 COSM1660374 |
171 | A>T | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA394990510 rs1387134522 |
172 | S>P | No |
ClinGen gnomAD |
|
|
rs757938208 CA7941227 |
173 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779728804 CA7941228 |
174 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA279291517 rs373845167 |
175 | P>H | No |
ClinGen gnomAD |
|
|
CA394990559 rs373845167 |
175 | P>R | No |
ClinGen gnomAD |
|
|
CA7941229 rs746564717 |
175 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1199369525 CA394990564 |
176 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 178 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs185396407 CA7941230 COSM349149 |
178 | R>I | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA394990611 rs1268020126 |
180 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA394990648 rs1246432152 |
184 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs559312334 CA279291553 |
185 | E>K | No |
ClinGen 1000Genomes |
|
|
rs376585853 CA7941233 |
187 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773136767 CA7941234 |
187 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA7941235 rs749254977 |
188 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs772092978 CA7941236 |
188 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760810856 CA7941238 |
189 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA7941240 rs776732571 |
190 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 191 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7941242 rs145878643 |
194 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7941243 rs750906591 |
198 | L>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 199 | N>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1427746958 CA394990857 |
199 | N>T | No |
ClinGen TOPMed |
|
|
rs1182459333 CA394991320 |
200 | E>D | No |
ClinGen gnomAD |
|
|
CA7941275 rs376169319 |
201 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745834951 CA7941274 |
201 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs200518351 CA7941276 |
202 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs983606886 CA279292929 |
205 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs983606886 CA394991371 |
205 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394991382 rs1187792770 |
206 | H>R | No |
ClinGen TOPMed |
|
|
rs1403711621 CA394991415 |
208 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA7941277 rs748296826 |
208 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1166583937 CA394991417 |
209 | E>K | No |
ClinGen gnomAD |
|
|
CA7941279 rs773629172 |
210 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1446055006 CA394991450 |
211 | G>A | No |
ClinGen gnomAD |
|
|
rs148594174 CA7941281 |
211 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA394991455 rs369585321 |
212 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7941282 rs369585321 |
212 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1437685564 CA394991467 |
213 | Q>* | No |
ClinGen TOPMed |
|
|
rs1329222348 CA394991476 |
213 | Q>H | No |
ClinGen gnomAD |
|
|
CA7941283 rs759984727 |
215 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7941284 rs768119396 |
216 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7941285 rs752119495 |
218 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA394991550 rs1197790912 |
219 | Y>* | No |
ClinGen TOPMed |
|
|
rs760300722 CA7941286 |
221 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1567366846 CA394991580 |
222 | S>R | No |
ClinGen Ensembl |
|
|
CA7941287 rs142969595 |
222 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 224 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394991606 rs1277889055 |
224 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA394991639 rs1237568815 |
227 | L>P | No |
ClinGen gnomAD |
|
|
rs1355986606 CA394991672 |
229 | K>N | No |
ClinGen TOPMed |
|
|
CA394991660 rs1567366892 |
229 | K>Q | No |
ClinGen Ensembl |
|
|
CA7941290 rs757005802 |
231 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs750277457 CA7941292 |
235 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA7941291 rs765037786 |
235 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394991770 rs765037786 |
235 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 236 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7941293 rs142316126 |
236 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142316126 CA279293022 |
236 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 240 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7941298 rs778077640 |
241 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365162262 CA394991890 |
242 | A>D | No |
ClinGen gnomAD |
|
|
CA7941299 rs200202580 |
242 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1365162262 CA394991896 |
242 | A>V | No |
ClinGen gnomAD |
|
|
rs370892610 CA7941301 |
244 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370892610 CA7941300 |
244 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1197928623 CA394991952 |
245 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA394991976 rs1272316568 |
247 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7941318 rs779347067 |
249 | T>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 251 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775818311 CA7941321 |
252 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 254 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1176226435 CA394992238 |
254 | S>P | No |
ClinGen TOPMed |
|
|
CA279293404 rs930412760 |
256 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1386675562 CA394992313 |
257 | M>I | No |
ClinGen gnomAD |
|
|
rs1567367340 CA394992326 |
258 | W>S | No |
ClinGen Ensembl |
|
|
CA7941322 rs747573042 |
259 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA7941325 rs761375430 |
260 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776084651 CA7941324 |
260 | I>T | No |
ClinGen ExAC |
|
|
CA7941323 rs769200173 |
260 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 262 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764852792 CA7941326 |
262 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA7941328 rs762590121 |
264 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1263139463 CA394992422 |
264 | G>S | No |
ClinGen gnomAD |
|
|
CA7941329 rs200963964 |
265 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394992440 rs1481917207 |
265 | W>C | No |
ClinGen gnomAD |
|
|
rs375129611 CA279293447 |
266 | I>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA394992458 rs1333535011 |
267 | L>P | No |
ClinGen TOPMed |
|
|
rs751407168 CA7941330 |
268 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA7941331 rs759527974 |
268 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7941333 rs147894332 |
270 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394992491 rs1366755081 |
270 | L>S | No |
ClinGen gnomAD |
|
|
rs111621042 CA7941334 |
271 | C>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778933404 CA7941335 |
273 | L>F | No |
ClinGen ExAC |
|
|
CA394992526 rs1567367458 |
273 | L>H | No |
ClinGen Ensembl |
|
|
CA7941337 rs750688584 |
274 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA7941336 rs750688584 |
274 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA394992532 rs1567367471 |
274 | M>V | No |
ClinGen Ensembl |
|
|
CA7941338 rs780443875 |
275 | E>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1708849 rs1408459535 CA394992546 |
275 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs747409825 CA7941339 |
276 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7941340 rs747409825 |
276 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392738637 CA394992572 |
277 | W>* | No |
ClinGen gnomAD |
|
|
CA7941341 rs781704851 |
277 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1392738637 CA394992575 |
277 | W>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7941342 rs368797865 |
278 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7941343 rs368797865 |
278 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394992595 rs1440177517 |
279 | L>S | No |
ClinGen TOPMed |
|
|
CA7941344 rs772703568 |
280 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762693480 CA7941345 |
281 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459405811 CA394992614 |
281 | A>V | No |
ClinGen TOPMed |
|
|
CA279293494 rs1034953304 |
282 | C>* | No |
ClinGen TOPMed |
|
|
CA394992619 rs1339968931 |
282 | C>R | No |
ClinGen gnomAD |
|
|
CA394992638 rs1204248453 |
283 | T>I | No |
ClinGen gnomAD |
|
|
rs1251649554 CA394992642 |
284 | F>I | No |
ClinGen gnomAD |
|
|
rs1251649554 CA394992645 |
284 | F>V | No |
ClinGen gnomAD |
|
|
CA7941348 rs759472607 |
285 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA7941346 rs770543850 |
285 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7941347 rs770543850 |
285 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444015134 CA394992671 |
286 | H>R | No |
ClinGen gnomAD |
|
|
rs375879225 CA7941349 |
286 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7941350 rs752697303 |
287 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394992685 rs752697303 |
287 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1387701125 CA394992695 |
288 | L>S | No |
ClinGen gnomAD |
|
|
rs1428360178 CA394992705 |
289 | P>S | No |
ClinGen gnomAD |
|
|
rs761942823 CA7941351 |
292 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA279293536 rs1012106684 |
292 | D>N | No |
ClinGen TOPMed |
|
|
rs1463216974 CA394992767 |
294 | L>P | No |
ClinGen gnomAD |
|
|
CA394992776 rs1191378454 |
295 | V>A | No |
ClinGen TOPMed |
|
|
CA7941353 rs750516522 |
297 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA394993101 rs1483540039 |
303 | Y>H | No |
ClinGen TOPMed |
|
|
rs767893685 CA7941378 |
304 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1220356654 CA394993118 |
305 | I>M | No |
ClinGen TOPMed |
|
|
CA7941379 rs144701679 |
305 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748818131 CA7941382 |
308 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA7941381 rs778209855 |
308 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA394993148 rs1193419025 |
309 | M>R | No |
ClinGen gnomAD |
|
|
rs375165622 CA7941385 |
311 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7941383 rs756733178 |
311 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7941384 rs375165622 |
311 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394993166 rs1345853742 |
312 | P>R | No |
ClinGen gnomAD |
|
|
CA394993198 rs746846484 |
315 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746846484 CA7941388 |
315 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7941390 rs199633879 |
316 | R>Q | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1563210 CA7941389 rs367739019 |
316 | R>W | Variant assessed as Somatic; 0.0001386 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs138581061 CA7941391 |
317 | M>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs766398684 CA7941392 |
317 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs774510469 CA7941393 |
319 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394993271 rs1268645411 |
319 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 322 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394993351 rs1596667238 |
323 | L>F | No |
ClinGen Ensembl |
|
|
CA7941395 rs767770489 |
325 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs753060611 CA7941396 |
325 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748016692 CA7941425 |
326 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7941427 rs777746048 |
327 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA279297404 rs532067943 |
327 | K>N | No |
ClinGen Ensembl |
|
|
rs1027864844 CA279297407 |
328 | F>I | No |
ClinGen TOPMed |
|
|
CA394993520 rs1027864844 |
328 | F>L | No |
ClinGen TOPMed |
|
|
rs149334873 CA7941429 |
329 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394993546 rs1372295805 |
329 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 330 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1596667807 CA394993598 |
332 | Q>R | No |
ClinGen Ensembl |
|
|
rs4643305 CA7941431 |
335 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs4643305 CA394993664 VAR_058692 |
335 | V>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA394993675 rs1326279211 |
336 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs4586421 CA7941432 |
337 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_058694 rs4586421 CA7941433 |
337 | V>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA394993704 rs1360823338 CA394993705 |
338 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs762322900 CA7941436 |
339 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394993728 rs1326349960 |
339 | E>D | No |
ClinGen gnomAD |
|
|
CA394993718 rs762322900 |
339 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394993731 rs1567371034 |
340 | S>P | No |
ClinGen Ensembl |
|
|
CA7941438 rs765780796 |
340 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA394993754 rs1596667936 |
342 | L>F | No |
ClinGen Ensembl |
|
|
rs762511273 CA7941440 |
342 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs765828342 CA7941441 |
345 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs765828342 CA394993793 |
345 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA394993851 rs1423064477 |
349 | W>C | No |
ClinGen TOPMed |
|
|
CA7941443 rs754557094 |
350 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA7941444 rs780965176 |
351 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA394993889 rs1481903835 |
353 | T>A | No |
ClinGen TOPMed |
|
|
CA7941446 rs145974879 |
354 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394993909 rs1195112781 |
355 | L>M | No |
ClinGen gnomAD |
|
|
rs148631132 CA7941448 |
358 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148631132 CA7941449 |
358 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs188648395 CA7941450 |
358 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs188648395 CA7941451 |
358 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1408225175 CA394993951 COSM1518408 |
359 | E>K | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA7941452 COSM379086 rs768743436 |
360 | S>F | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7941453 rs776920544 |
361 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA394993991 rs1385577213 |
362 | G>V | No |
ClinGen gnomAD |
|
|
rs373306567 CA7941456 |
364 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs759143815 | 366 | T>= | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 366 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7941459 rs150888398 |
366 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150888398 CA7941458 |
366 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394994160 rs1164647218 |
367 | G>* | No |
ClinGen gnomAD |
|
| TCGA novel | 367 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1484700660 CA394994167 |
368 | L>* | No |
ClinGen gnomAD |
|
|
rs1700805 CA394994170 |
368 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778200383 CA7941494 |
369 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 370 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394994188 rs1380178077 |
371 | M>K | No |
ClinGen TOPMed |
|
|
rs1380178077 CA394994190 |
371 | M>T | No |
ClinGen TOPMed |
|
|
rs1158703920 CA394994194 |
372 | V>I | No |
ClinGen TOPMed |
|
|
rs1596670842 CA394994201 |
373 | S>P | No |
ClinGen Ensembl |
|
|
rs1422039533 CA394994209 |
374 | K>T | No |
ClinGen TOPMed |
|
|
CA7941496 rs372723545 |
375 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394994220 rs1381994378 |
376 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7941497 rs779252605 |
378 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA7941500 rs774952137 |
380 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 380 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746412359 CA7941498 |
380 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746412359 CA7941499 |
380 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 381 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7941503 rs776265831 |
383 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768237008 CA7941502 |
383 | M>T | No |
ClinGen ExAC |
|
|
rs760234485 CA7941501 |
383 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1410075998 CA394994276 |
384 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7941504 rs541336866 |
385 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7941507 rs762914811 |
387 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs866827349 CA279298891 |
388 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs766492512 CA7941508 |
388 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394994303 rs1170177138 |
389 | C>S | No |
ClinGen gnomAD |
|
|
CA394994307 rs1373338762 |
390 | Y>N | No |
ClinGen gnomAD |
|
|
rs752812070 CA394994322 |
391 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 391 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756276906 CA7941510 |
392 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 392 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 392 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 393 | Q>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7941512 rs754125233 |
393 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA7941546 rs200201528 |
394 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7941549 rs767605506 |
394 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7941548 rs767605506 |
394 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200201528 CA7941547 |
394 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1220783049 CA394994617 |
395 | I>T | No |
ClinGen gnomAD |
|
|
rs765430690 CA7941551 |
395 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 397 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750637232 CA394994628 |
397 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7941552 rs750637232 |
397 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758709917 CA7941553 |
399 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394994643 rs1223239778 |
399 | G>S | No |
ClinGen gnomAD |
|
|
rs147314845 CA7941555 |
401 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755470688 CA394994662 |
402 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7941559 rs374997353 |
403 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7941562 rs201551733 |
404 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201551733 COSM1244163 CA7941561 |
404 | P>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs747636626 CA7941560 |
404 | P>S | No |
ClinGen ExAC TOPMed |
|
| rs755296455 | 405 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs755296455 | 405 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7941564 rs570810199 |
405 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7941565 rs538489825 |
406 | T>I | No |
ClinGen ExAC TOPMed |
|
|
CA7941567 rs538489825 |
406 | T>R | No |
ClinGen ExAC TOPMed |
|
|
CA7941569 rs772036638 |
408 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA7941570 rs775290899 |
409 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs534821524 CA7941571 |
411 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs534821524 CA394994710 |
411 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA279299747 rs1025889085 |
411 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7941572 rs765250619 |
413 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1244356706 CA394994724 |
413 | R>M | No |
ClinGen gnomAD |
|
|
rs1265917217 CA394994727 |
414 | V>I | No |
ClinGen TOPMed |
|
|
CA7941574 rs763131281 |
417 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1436843567 CA394994762 |
419 | P>H | No |
ClinGen gnomAD |
|
|
CA394994764 rs1436843567 |
419 | P>L | No |
ClinGen gnomAD |
|
|
CA7941576 rs751907229 |
419 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394994773 rs1459940290 |
421 | G>R | No |
ClinGen gnomAD |
|
|
CA7941579 rs768002944 |
421 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs753176168 CA7941580 |
422 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753176168 CA394994780 |
422 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 423 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755602035 CA7941581 |
425 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs370024696 CA279299772 |
425 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs918093572 CA279299780 |
426 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA7941608 rs746888322 |
428 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1479559356 CA394977549 |
429 | N>K | No |
ClinGen gnomAD |
|
|
CA7941609 rs768463141 |
430 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs771032092 CA7941612 |
431 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7941611 COSM1181688 rs749299994 |
431 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs556550170 CA279256735 |
433 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7941613 rs556550170 |
433 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394977647 rs759655791 |
434 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7941614 rs759655791 |
434 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7941615 rs577931949 |
435 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394977694 COSM557048 rs775717868 CA394977695 |
436 | N>K | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD NCI-TCGA |
|
rs761163316 CA7941617 |
438 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs138191656 CA394977723 |
438 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7941618 rs138191656 |
438 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7941619 rs370665404 |
439 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1314651881 CA394977765 |
441 | F>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 443 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1278945141 CA394977818 |
443 | L>P | No |
ClinGen gnomAD |
|
|
rs764816116 CA7941621 |
444 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1289268285 CA394977834 |
444 | L>P | No |
ClinGen gnomAD |
|
|
CA7941624 rs145697504 |
447 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144589974 CA7941623 |
447 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751254094 CA7941625 |
448 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs148964333 CA279256824 |
448 | G>R | No |
ClinGen ESP gnomAD |
|
|
CA7941626 COSM702484 rs754805512 |
449 | I>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA7941627 rs781067861 |
450 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7941628 rs572272646 |
451 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7941629 rs756094664 |
452 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA394978038 rs1395467967 |
453 | D>E | No |
ClinGen TOPMed |
|
|
CA7941631 rs778934630 |
454 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7941633 rs142866996 |
459 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7941632 rs746029535 |
459 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA394978138 rs1389225633 |
460 | G>R | No |
ClinGen gnomAD |
|
|
rs1327564131 CA394978147 |
460 | G>V | No |
ClinGen gnomAD |
|
|
rs747273688 CA7941635 |
461 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7941636 rs747273688 |
461 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775799143 CA7941634 |
461 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141811117 CA7941637 |
462 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1369744918 CA394978162 |
462 | A>V | No |
ClinGen TOPMed |
|
|
CA7941638 rs9924150 |
463 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7941639 rs9924150 |
463 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs531666324 CA7941640 |
463 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394978166 rs9924150 |
463 | N>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394978191 rs1253190913 |
465 | I>T | No |
ClinGen TOPMed |
|
|
CA7941641 rs200695626 |
466 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394978211 rs1291319067 |
468 | S>A | No |
ClinGen TOPMed |
|
|
rs575920600 CA7941643 |
469 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7941644 rs531975924 |
470 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1319639033 CA394978307 |
471 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA279257074 rs755234990 |
472 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394978323 rs556547446 |
472 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394978321 rs556547446 |
472 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7941670 COSM182721 rs556547446 |
472 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA210155 RCV000201349 rs755234990 |
472 | R>W | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 474 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7941671 rs748455504 |
475 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748455504 CA7941672 |
475 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1277866539 CA394978356 |
475 | P>S | No |
ClinGen gnomAD |
|
|
rs75603553 CA7941675 |
476 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs868086899 CA279257103 |
477 | E>A | No |
ClinGen Ensembl |
|
|
CA7941677 rs759108235 |
477 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs140251235 CA7941678 |
479 | E>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs149737523 CA7941679 CA394978416 |
479 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760426651 CA7941680 |
480 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs981610934 CA279257107 |
481 | A>E | No |
ClinGen TOPMed |
|
|
CA279257110 rs867951473 |
483 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA7941682 rs753611954 |
484 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA7941683 rs761802947 |
484 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394978465 rs1196691925 |
484 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA279257124 rs928720514 |
485 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 486 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765142305 CA7941685 |
486 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs751630877 CA7941686 |
487 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755110605 CA7941687 |
488 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM702482 rs369633543 CA7941688 |
491 | T>M | lung large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7941690 rs756341286 |
494 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145574596 CA394978596 CA7941692 |
498 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs543127018 CA7941693 |
499 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs543127018 CA7941694 |
499 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7941696 rs375317702 |
500 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3420821 rs376967417 CA7941698 |
501 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7941699 rs376967417 |
501 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7941700 rs768256697 |
501 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768256697 CA394978606 |
501 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177435625 CA394978612 |
502 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs376973105 CA7941701 |
503 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754475293 CA7941737 |
504 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA7941738 rs184553350 |
505 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7941739 rs747733038 |
507 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403123638 CA394979105 |
508 | F>L | No |
ClinGen gnomAD |
|
|
rs371186879 CA7941742 |
509 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7941745 rs760771677 |
510 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7941744 rs774438217 |
510 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776825713 CA7941748 |
512 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1339416032 CA394979217 |
512 | A>T | No |
ClinGen gnomAD |
|
|
rs776825713 CA7941747 |
512 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1133607 CA7941749 VAR_035247 |
513 | S>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM968072 CA394979237 rs1362083893 |
513 | S>P | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA7941750 rs1133607 |
513 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394979270 rs1567377251 COSM1323674 |
514 | Q>L | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs752027673 CA394979303 |
516 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1708850 CA394979325 rs1214163807 |
517 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA394979315 rs1443993183 |
517 | S>T | No |
ClinGen gnomAD |
|
|
rs1261364448 CA394979328 |
518 | H>Y | No |
ClinGen gnomAD |
|
|
rs780537142 CA7941756 |
519 | D>V | No |
ClinGen ExAC |
|
|
CA279258643 rs746087264 |
520 | P>L | No |
ClinGen gnomAD |
|
|
CA7941758 rs755815714 |
523 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs777582294 CA7941759 |
525 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs370522235 CA394979443 |
526 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1261423733 CA394979435 |
526 | E>G | No |
ClinGen TOPMed |
|
|
rs144620533 CA7941760 |
526 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1400183782 CA394979466 |
528 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA7941762 rs138375901 |
529 | Q>H | No |
ClinGen ESP ExAC |
|
|
CA7941763 rs745774062 |
530 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7941764 rs772091778 |
531 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs1469945370 CA394979525 |
532 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA394979530 rs1235254963 |
532 | K>M | No |
ClinGen TOPMed |
|
|
CA7941765 rs776556869 |
533 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1044216347 CA279258695 |
534 | V>G | No |
ClinGen TOPMed |
|
|
CA394979577 rs761892143 |
536 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7941766 rs761892143 |
536 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769933923 CA7941767 |
537 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769933923 CA394979583 |
537 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7941771 rs766707267 |
538 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1264113091 CA394979595 |
538 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7941769 rs763253064 |
538 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1378756176 CA394979617 |
539 | K>N | No |
ClinGen gnomAD |
|
|
rs759956173 CA7941772 |
539 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA279258735 rs200160908 |
540 | Y>N | No |
ClinGen Ensembl |
|
|
rs768127780 CA7941773 |
541 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752090939 CA7941774 |
542 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA394979659 rs1380016958 |
543 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1419939716 CA394979669 |
543 | K>N | No |
ClinGen gnomAD |
|
|
CA394979667 rs1329438931 |
543 | K>T | No |
ClinGen gnomAD |
|
|
rs908866276 CA279261156 |
544 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1324695924 CA394979911 |
548 | L>F | No |
ClinGen TOPMed |
|
|
rs1596685848 CA394979920 |
549 | N>T | No |
ClinGen Ensembl |
|
|
rs571837503 CA279261161 COSM1323673 |
550 | L>M | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA7941806 rs771001825 |
550 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs181555433 CA7941810 |
552 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394979963 rs761237925 |
553 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs761237925 CA7941811 |
553 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA7941813 rs776219525 |
556 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472938589 CA394979990 |
556 | G>V | No |
ClinGen TOPMed |
|
|
rs761404136 CA7941814 |
557 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596685905 CA394980019 |
559 | Q>* | No |
ClinGen Ensembl |
|
|
COSM1376398 rs144468742 CA7941815 |
560 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs144468742 CA394980028 |
560 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7941816 COSM231699 rs148142047 |
560 | R>Q | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA394980036 rs1313776843 |
561 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1054977 CA7941818 |
561 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_035248 rs1054977 CA7941817 |
561 | A>T | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs1216920779 CA394980057 |
563 | L>F | No |
ClinGen gnomAD |
|
|
CA394980053 rs1216920779 |
563 | L>I | No |
ClinGen gnomAD |
|
|
rs1277601131 CA394980062 |
563 | L>R | No |
ClinGen gnomAD |
|
|
COSM1518401 rs143956389 CA7941820 |
564 | R>* | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 566 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7941823 COSM557044 rs757378811 CA394980147 |
570 | M>I | Variant assessed as Somatic; 4.619e-05 impact. lung Variant assessed as Somatic; 0.0 impact. [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA394980140 rs1254762130 COSM290417 |
570 | M>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs369137473 CA7941825 |
572 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394980185 rs1192325655 |
574 | A>P | No |
ClinGen gnomAD |
|
|
CA394980186 rs1192325655 |
574 | A>S | No |
ClinGen gnomAD |
|
|
CA394980191 rs1438996014 |
574 | A>V | No |
ClinGen TOPMed |
|
|
CA394980196 rs1430246150 |
575 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA394980199 rs1173954214 |
575 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1173954214 CA394980203 |
575 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1430246150 CA394980198 |
575 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs141048019 CA7941829 |
576 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7941830 COSM968074 rs141048019 |
576 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs202194685 CA7941832 |
577 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7941833 rs761192127 |
577 | Q>R | No |
ClinGen ExAC |
|
|
rs200958444 CA279261298 |
578 | Q>R | No |
ClinGen 1000Genomes |
No associated diseases with Q08AH3
Functions
| Description | ||
|---|---|---|
| EC Number | 6.2.1.2 | Acid--thiol ligases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| benzoate-CoA ligase activity | Catalysis of the reaction: ATP + benzoate + CoA = AMP + benzoyl-CoA + diphosphate. |
| butyrate-CoA ligase activity | Catalysis of the reaction: ATP + an acid + CoA = AMP + diphosphate + an acyl-CoA. |
| decanoate-CoA ligase activity | Catalysis of the reaction: ATP + decanoate + CoA = AMP + diphosphate + decanoyl-CoA. |
| fatty acid ligase activity | Catalysis of the ligation of a fatty acid to an acceptor, coupled to the hydrolysis of ATP. |
| fatty-acyl-CoA synthase activity | Catalysis of the reaction: acetyl-CoA + n malonyl-CoA + 2n NADH + 2n NADPH + 4n H+ = a long-chain acyl-CoA + n CoA + n CO2 + 2n NAD+ + 2n NADP+. |
| metal ion binding | Binding to a metal ion. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| acyl-CoA metabolic process | The chemical reactions and pathways involving acyl-CoA, any derivative of coenzyme A in which the sulfhydryl group is in thiolester linkage with an acyl group. |
| fatty acid biosynthetic process | The chemical reactions and pathways resulting in the formation of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes. |
| glucose homeostasis | Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. |
| medium-chain fatty-acyl-CoA metabolic process | The chemical reactions and pathways involving medium-chain fatty-acyl-CoAs, any derivative of coenzyme A in which the sulfhydryl group is in a thioester linkage with a long-chain fatty-acyl group. A medium-chain fatty acid is a fatty acid with a chain length of between C6 and C12. |
| triglyceride homeostasis | Any process involved in the maintenance of an internal steady state of triglyceride within an organism or cell. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9NR19 | ACSS2 | Acetyl-coenzyme A synthetase, cytoplasmic | Homo sapiens (Human) | PR |
| Q68CK6 | ACSM2B | Acyl-coenzyme A synthetase ACSM2B, mitochondrial | Homo sapiens (Human) | PR |
| Q9QXG4 | Acss2 | Acetyl-coenzyme A synthetase, cytoplasmic | Mus musculus (Mouse) | PR |
| Q9D2R0 | Aacs | Acetoacetyl-CoA synthetase | Mus musculus (Mouse) | PR |
| Q8K0L3 | Acsm2 | Acyl-coenzyme A synthetase ACSM2, mitochondrial | Mus musculus (Mouse) | PR |
| Q9JMI1 | Aacs | Acetoacetyl-CoA synthetase | Rattus norvegicus (Rat) | PR |
| O70490 | Acsm2 | Acyl-coenzyme A synthetase ACSM2, mitochondrial | Rattus norvegicus (Rat) | PR |
| Q84P17 | AAE18 | Probable acyl-activating enzyme 18, peroxisomal | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MHWLRKVQGL | CTLWGTQMSS | RTLYINSRQL | VSLQWGHQEV | PAKFNFASDV | LDHWADMEKA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GKRLPSPALW | WVNGKGKELM | WNFRELSENS | QQAANVLSGA | CGLQRGDRVA | VVLPRVPEWW |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LVILGCIRAG | LIFMPGTIQM | KSTDILYRLQ | MSKAKAIVAG | DEVIQEVDTV | ASECPSLRIK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LLVSEKSCDG | WLNFKKLLNE | ASTTHHCVET | GSQEASAIYF | TSGTSGLPKM | AEHSYSSLGL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KAKMDAGWTG | LQASDIMWTI | SDTGWILNIL | CSLMEPWALG | ACTFVHLLPK | FDPLVILKTL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SSYPIKSMMG | APIVYRMLLQ | QDLSSYKFPH | LQNCVTVGES | LLPETLENWR | AQTGLDIRES |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YGQTETGLTC | MVSKTMKIKP | GYMGTAASCY | DVQIIDDKGN | VLPPGTEGDI | GIRVKPIRPI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GIFSGYVDNP | DKTAANIRGD | FWLLGDRGIK | DEDGYFQFMG | RANDIINSSG | YRIGPSEVEN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ALMEHPAVVE | TAVISSPDPV | RGEVVKAFVV | LASQFLSHDP | EQLTKELQQH | VKSVTAPYKY |
| 550 | 560 | 570 | |||
| PRKIEFVLNL | PKTVTGKIQR | AKLRDKEWKM | SGKARAQ |