Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C568 |
Reference Plasmid |
NZ_CP032289.1 |
Reference Plasmid Size |
12408 |
Reference Plasmid GC Content |
0.42 |
Reference Plasmid Mobility Type |
non-mobilizable |
Mutation sites in the plasmid cluster
The table lists mutations identified in the plasmid cluster.
Note: Mutations identified in this plasmid cluster are listed below. Click on a mutation ID to view full details..
mutid |
gname |
pos |
count |
tissue |
frequnt |
biotype |
consequence |
impact |
nucchange |
aachange |
M0095101 |
EPKPGAKF_00009 |
7400 |
13 |
Skin |
0.59 |
protein_coding |
synonymous_variant |
LOW |
1398G>A |
Glu466Glu |
M0095102 |
EPKPGAKF_00009 |
7457 |
12 |
Skin |
0.55 |
protein_coding |
synonymous_variant |
LOW |
1341G>T |
Leu447Leu |
M0095103 |
EPKPGAKF_00009 |
7498 |
17 |
Skin |
0.77 |
protein_coding |
synonymous_variant |
LOW |
1300C>T |
Leu434Leu |
M0095104 |
EPKPGAKF_00009 |
7604 |
14 |
Skin |
0.64 |
protein_coding |
synonymous_variant |
LOW |
1194T>C |
Asp398Asp |
M0095105 |
EPKPGAKF_00009 |
7619 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1179C>A |
Pro393Pro |
M0095106 |
EPKPGAKF_00009 |
7667 |
17 |
Skin |
0.77 |
protein_coding |
synonymous_variant |
LOW |
1131G>C |
Pro377Pro |
M0095107 |
EPKPGAKF_00009 |
7679 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1119C>T |
Tyr373Tyr |
M0095108 |
EPKPGAKF_00009 |
7697 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1101A>G |
Ala367Ala |
M0095109 |
EPKPGAKF_00009 |
7712 |
17 |
Skin |
0.77 |
protein_coding |
synonymous_variant |
LOW |
1086T>C |
Gly362Gly |
M0095110 |
EPKPGAKF_00009 |
7733 |
9 |
Skin |
0.41 |
protein_coding |
synonymous_variant |
LOW |
1065C>T |
Asp355Asp |
M0095111 |
EPKPGAKF_00009 |
7808 |
17 |
Skin |
0.77 |
protein_coding |
synonymous_variant |
LOW |
990C>A |
Pro330Pro |
M0095112 |
EPKPGAKF_00009 |
7811 |
16 |
Skin |
0.73 |
protein_coding |
synonymous_variant |
LOW |
987T>C |
Asp329Asp |
M0095113 |
EPKPGAKF_00009 |
7839 |
17 |
Skin |
0.77 |
protein_coding |
missense_variant |
MODERATE |
959A>G |
His320Arg |
M0095114 |
EPKPGAKF_00009 |
7850 |
17 |
Skin |
0.77 |
protein_coding |
synonymous_variant |
LOW |
948A>T |
Ala316Ala |
M0095115 |
EPKPGAKF_00009 |
7886 |
18 |
Skin |
0.82 |
protein_coding |
synonymous_variant |
LOW |
912A>G |
Ser304Ser |
M0095116 |
EPKPGAKF_00009 |
7898 |
11 |
Skin |
0.50 |
protein_coding |
synonymous_variant |
LOW |
900T>A |
Gly300Gly |
M0095117 |
EPKPGAKF_00009 |
7940 |
17 |
Skin |
0.77 |
protein_coding |
synonymous_variant |
LOW |
858G>A |
Glu286Glu |
M0095118 |
EPKPGAKF_00009 |
7970 |
18 |
Skin |
0.82 |
protein_coding |
synonymous_variant |
LOW |
828A>G |
Ala276Ala |
M0095119 |
EPKPGAKF_00009 |
7982 |
10 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
816C>T |
Arg272Arg |
M0095120 |
EPKPGAKF_00009 |
8004 |
11 |
Skin |
0.50 |
protein_coding |
missense_variant |
MODERATE |
794C>G |
Thr265Ser |
M0095121 |
EPKPGAKF_00009 |
8111 |
13 |
Skin |
0.59 |
protein_coding |
synonymous_variant |
LOW |
687G>C |
Ala229Ala |
M0095122 |
EPKPGAKF_00009 |
8160 |
12 |
Skin |
0.55 |
protein_coding |
missense_variant |
MODERATE |
638A>C |
Asp213Ala |
M0095123 |
EPKPGAKF_00009 |
8191 |
5 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
607G>A |
Asp203Asn |
M0095124 |
EPKPGAKF_00009 |
8252 |
14 |
Skin |
0.64 |
protein_coding |
synonymous_variant |
LOW |
546T>C |
Ser182Ser |
M0095125 |
EPKPGAKF_00009 |
8255 |
18 |
Skin |
0.82 |
protein_coding |
synonymous_variant |
LOW |
543G>T |
Pro181Pro |
M0095126 |
EPKPGAKF_00009 |
8412 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
386A>G |
Gln129Arg |
M0095127 |
EPKPGAKF_00009 |
8430 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
368C>A |
Thr123Lys |
M0095128 |
EPKPGAKF_00009 |
8455 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
343C>T |
Leu115Leu |
M0095129 |
EPKPGAKF_00009 |
8507 |
8 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
291T>C |
Tyr97Tyr |
M0095130 |
EPKPGAKF_00009 |
8534 |
11 |
Skin |
0.50 |
protein_coding |
synonymous_variant |
LOW |
264C>T |
Ile88Ile |
M0095131 |
EPKPGAKF_00009 |
8540 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
258C>T |
Ala86Ala |
M0095132 |
EPKPGAKF_00009 |
8558 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
240A>G |
Glu80Glu |
M0095133 |
EPKPGAKF_00009 |
8639 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
159C>G |
Ala53Ala |
M0095134 |
EPKPGAKF_00009 |
8662 |
17 |
Skin |
0.77 |
protein_coding |
missense_variant |
MODERATE |
136T>G |
Phe46Val |
M0095135 |
EPKPGAKF_00009 |
8671 |
5 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
127A>G |
Lys43Glu |
M0095136 |
EPKPGAKF_00009 |
8743 |
18 |
Skin |
0.82 |
protein_coding |
synonymous_variant |
LOW |
55T>C |
Leu19Leu |
M0095137 |
EPKPGAKF_00009 |
8755 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
43T>C |
Leu15Leu |
M0095138 |
EPKPGAKF_00007 |
8820 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3100G>A |
None |
M0095139 |
EPKPGAKF_00007 |
8959 |
4 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3239A>C |
None |
M0095140 |
EPKPGAKF_00007 |
9006 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3286C>T |
None |
M0095141 |
EPKPGAKF_00010 |
9036 |
9 |
Skin |
0.41 |
protein_coding |
synonymous_variant |
LOW |
543C>T |
Ile181Ile |
M0095142 |
EPKPGAKF_00010 |
9083 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
496C>T |
Leu166Leu |
M0095143 |
EPKPGAKF_00010 |
9090 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
489A>G |
Val163Val |
M0095144 |
EPKPGAKF_00010 |
9096 |
17 |
Skin |
0.77 |
protein_coding |
synonymous_variant |
LOW |
483A>G |
Val161Val |
M0095145 |
EPKPGAKF_00010 |
9135 |
11 |
Skin |
0.50 |
protein_coding |
synonymous_variant |
LOW |
444T>C |
Phe148Phe |
M0095146 |
EPKPGAKF_00010 |
9154 |
6 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
425G>A |
Ser142Asn |
M0095147 |
EPKPGAKF_00010 |
9155 |
6 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
424A>G |
Ser142Gly |
M0095148 |
EPKPGAKF_00010 |
9191 |
4 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
388A>C |
Ile130Leu |
M0095149 |
EPKPGAKF_00010 |
9228 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
351T>C |
Asn117Asn |
M0095150 |
EPKPGAKF_00010 |
9249 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
330C>T |
Gly110Gly |
M0095151 |
EPKPGAKF_00010 |
9363 |
15 |
Skin |
0.68 |
protein_coding |
synonymous_variant |
LOW |
216G>A |
Leu72Leu |
M0095152 |
EPKPGAKF_00010 |
9399 |
17 |
Skin |
0.77 |
protein_coding |
synonymous_variant |
LOW |
180G>A |
Leu60Leu |
M0095153 |
EPKPGAKF_00010 |
9405 |
9 |
Skin |
0.41 |
protein_coding |
synonymous_variant |
LOW |
174C>T |
Ala58Ala |
M0095154 |
EPKPGAKF_00010 |
9515 |
16 |
Skin |
0.73 |
protein_coding |
missense_variant |
MODERATE |
64T>C |
Phe22Leu |
M0095155 |
EPKPGAKF_00007 |
9611 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3891A>C |
None |
M0095156 |
EPKPGAKF_00007 |
9613 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3893C>T |
None |
M0095157 |
EPKPGAKF_00007 |
9620 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3900T>A |
None |
M0095158 |
EPKPGAKF_00007 |
9640 |
5 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3920G>A |
None |
M0095159 |
EPKPGAKF_00007 |
9644 |
4 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3924A>T |
None |
M0095160 |
EPKPGAKF_00007 |
9652 |
13 |
Skin |
0.59 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3932C>A |
None |
M0095161 |
EPKPGAKF_00007 |
9669 |
6 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3949A>G |
None |
M0095162 |
EPKPGAKF_00007 |
9695 |
9 |
Skin |
0.41 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3975G>A |
None |
M0095163 |
EPKPGAKF_00007 |
9709 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3989T>A |
None |
M0095164 |
EPKPGAKF_00007 |
9717 |
13 |
Skin |
0.59 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3997G>A |
None |
M0095165 |
EPKPGAKF_00007 |
9736 |
6 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4016T>A |
None |
M0095166 |
EPKPGAKF_00007 |
10130 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4410C>A |
None |
M0095167 |
EPKPGAKF_00011 |
10183 |
5 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1188T>C |
Pro396Pro |
M0095168 |
EPKPGAKF_00011 |
10188 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
1183G>A |
Ala395Thr |
M0095169 |
EPKPGAKF_00011 |
10237 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1134A>G |
Pro378Pro |
M0095170 |
EPKPGAKF_00011 |
10261 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1110G>A |
Glu370Glu |
M0095171 |
EPKPGAKF_00011 |
10312 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
1059A>T |
Ile353Ile |
M0095172 |
EPKPGAKF_00011 |
10351 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1020G>C |
Ala340Ala |
M0095173 |
EPKPGAKF_00011 |
10354 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
1017G>A |
Glu339Glu |
M0095174 |
EPKPGAKF_00011 |
10360 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
1011A>G |
Leu337Leu |
M0095175 |
EPKPGAKF_00011 |
10432 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
939T>C |
Thr313Thr |
M0095176 |
EPKPGAKF_00011 |
10471 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
900T>A |
Arg300Arg |
M0095177 |
EPKPGAKF_00011 |
10474 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
897A>G |
Val299Val |
M0095178 |
EPKPGAKF_00011 |
10930 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
441C>T |
Gly147Gly |
M0095179 |
EPKPGAKF_00011 |
10945 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
426T>C |
Thr142Thr |
M0095180 |
EPKPGAKF_00011 |
10948 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
423G>A |
Leu141Leu |
M0095181 |
EPKPGAKF_00011 |
10999 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
372G>C |
Ala124Ala |
M0095182 |
EPKPGAKF_00011 |
11068 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
303G>A |
Leu101Leu |
M0095183 |
EPKPGAKF_00011 |
11086 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
285A>T |
Arg95Arg |
M0095184 |
EPKPGAKF_00011 |
11107 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
264C>T |
Arg88Arg |
M0095185 |
EPKPGAKF_00011 |
11136 |
9 |
Skin |
0.41 |
protein_coding |
missense_variant |
MODERATE |
235T>G |
Trp79Gly |
M0095186 |
EPKPGAKF_00011 |
11143 |
9 |
Skin |
0.41 |
protein_coding |
missense_variant |
MODERATE |
228C>A |
Phe76Leu |
M0095187 |
EPKPGAKF_00011 |
11191 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
180C>T |
Ala60Ala |
M0095188 |
EPKPGAKF_00011 |
11199 |
5 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
172T>C |
Leu58Leu |
M0095189 |
EPKPGAKF_00007 |
4872 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
849A>G |
Val283Val |
M0095190 |
EPKPGAKF_00007 |
4886 |
5 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
835A>C |
Asn279His |
M0095191 |
EPKPGAKF_00007 |
4889 |
5 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
832A>C |
Lys278Gln |
M0095192 |
EPKPGAKF_00007 |
4893 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
828T>C |
Ile276Ile |
M0095193 |
EPKPGAKF_00007 |
4899 |
7 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
822T>G |
Asp274Glu |
M0095194 |
EPKPGAKF_00007 |
4917 |
13 |
Skin |
0.59 |
protein_coding |
synonymous_variant |
LOW |
804C>T |
Val268Val |
M0095195 |
EPKPGAKF_00007 |
5193 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
528C>T |
Thr176Thr |
M0095196 |
EPKPGAKF_00007 |
5232 |
11 |
Skin |
0.50 |
protein_coding |
synonymous_variant |
LOW |
489A>G |
Ser163Ser |
M0095197 |
EPKPGAKF_00007 |
5277 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
444T>C |
His148His |
M0095198 |
EPKPGAKF_00007 |
5286 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
435G>A |
Leu145Leu |
M0095199 |
EPKPGAKF_00007 |
5367 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
354G>A |
Glu118Glu |
M0095200 |
EPKPGAKF_00007 |
5424 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
297T>C |
Pro99Pro |
M0095201 |
EPKPGAKF_00007 |
5430 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
291A>G |
Ala97Ala |
M0095202 |
EPKPGAKF_00007 |
5445 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
276C>T |
Asp92Asp |
M0095203 |
EPKPGAKF_00007 |
5448 |
8 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
273A>C |
Ala91Ala |
M0095204 |
EPKPGAKF_00007 |
5484 |
12 |
Skin |
0.55 |
protein_coding |
synonymous_variant |
LOW |
237C>T |
Arg79Arg |
M0095205 |
EPKPGAKF_00007 |
5502 |
5 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
219G>T |
Gln73His |
M0095206 |
EPKPGAKF_00007 |
5503 |
4 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
218A>G |
Gln73Arg |
M0095207 |
EPKPGAKF_00007 |
5508 |
14 |
Skin |
0.64 |
protein_coding |
synonymous_variant |
LOW |
213T>C |
Ala71Ala |
M0095208 |
EPKPGAKF_00007 |
5536 |
5 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
185A>C |
Asp62Ala |
M0095209 |
EPKPGAKF_00007 |
5592 |
14 |
Skin |
0.64 |
protein_coding |
synonymous_variant |
LOW |
129T>C |
Asp43Asp |
M0095210 |
EPKPGAKF_00007 |
5660 |
5 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
61T>C |
Leu21Leu |
M0095211 |
EPKPGAKF_00008 |
6158 |
5 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
969T>C |
Ile323Ile |
M0095212 |
EPKPGAKF_00008 |
6167 |
11 |
Skin |
0.50 |
protein_coding |
synonymous_variant |
LOW |
960T>C |
Asn320Asn |
M0095213 |
EPKPGAKF_00008 |
6224 |
8 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
903A>T |
Pro301Pro |
M0095214 |
EPKPGAKF_00008 |
6230 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
897C>T |
Asp299Asp |
M0095215 |
EPKPGAKF_00008 |
6257 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
870C>T |
Asp290Asp |
M0095216 |
EPKPGAKF_00008 |
6281 |
12 |
Skin |
0.55 |
protein_coding |
synonymous_variant |
LOW |
846T>C |
Asn282Asn |
M0095217 |
EPKPGAKF_00008 |
6290 |
12 |
Skin |
0.55 |
protein_coding |
synonymous_variant |
LOW |
837A>G |
Leu279Leu |
M0095218 |
EPKPGAKF_00008 |
6363 |
10 |
Skin |
0.45 |
protein_coding |
missense_variant |
MODERATE |
764G>A |
Ser255Asn |
M0095219 |
EPKPGAKF_00008 |
6365 |
14 |
Skin |
0.64 |
protein_coding |
synonymous_variant |
LOW |
762C>T |
Thr254Thr |
M0095220 |
EPKPGAKF_00008 |
6368 |
10 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
759C>T |
Ala253Ala |
M0095221 |
EPKPGAKF_00008 |
6371 |
14 |
Skin |
0.64 |
protein_coding |
synonymous_variant |
LOW |
756T>C |
Asn252Asn |
M0095222 |
EPKPGAKF_00008 |
6380 |
10 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
747A>C |
Leu249Leu |
M0095223 |
EPKPGAKF_00008 |
6383 |
16 |
Skin |
0.73 |
protein_coding |
missense_variant |
MODERATE |
744G>T |
Glu248Asp |
M0095224 |
EPKPGAKF_00008 |
6386 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
741T>A |
Arg247Arg |
M0095225 |
EPKPGAKF_00008 |
6410 |
16 |
Skin |
0.73 |
protein_coding |
synonymous_variant |
LOW |
717A>G |
Ala239Ala |
M0095226 |
EPKPGAKF_00008 |
6461 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
666G>A |
Ala222Ala |
M0095227 |
EPKPGAKF_00008 |
6473 |
5 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
654C>T |
Tyr218Tyr |
M0095228 |
EPKPGAKF_00008 |
6599 |
14 |
Skin |
0.64 |
protein_coding |
synonymous_variant |
LOW |
528G>A |
Lys176Lys |
M0095229 |
EPKPGAKF_00008 |
6608 |
16 |
Skin |
0.73 |
protein_coding |
synonymous_variant |
LOW |
519C>T |
Gly173Gly |
M0095230 |
EPKPGAKF_00008 |
6677 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
450C>T |
Ile150Ile |
M0095231 |
EPKPGAKF_00008 |
6680 |
5 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
447T>C |
Thr149Thr |
M0095232 |
EPKPGAKF_00008 |
6683 |
5 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
444T>C |
Asn148Asn |
M0095233 |
EPKPGAKF_00008 |
6701 |
13 |
Skin |
0.59 |
protein_coding |
synonymous_variant |
LOW |
426C>T |
Phe142Phe |
M0095234 |
EPKPGAKF_00008 |
6866 |
5 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
261C>T |
Arg87Arg |
M0095235 |
EPKPGAKF_00008 |
7064 |
13 |
Skin |
0.59 |
protein_coding |
synonymous_variant |
LOW |
63G>C |
Thr21Thr |
M0095236 |
EPKPGAKF_00008 |
7105 |
17 |
Skin |
0.77 |
protein_coding |
missense_variant |
MODERATE |
22G>C |
Gly8Arg |
M0095237 |
EPKPGAKF_00004 |
7158 |
6 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4895T>C |
None |
M0095238 |
EPKPGAKF_00004 |
7160 |
10 |
Skin |
0.45 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4897T>G |
None |
M0095239 |
EPKPGAKF_00004 |
7167 |
18 |
Skin |
0.82 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4904T>C |
None |
M0095240 |
EPKPGAKF_00004 |
7173 |
4 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4910G>A |
None |
M0095241 |
EPKPGAKF_00004 |
7191 |
15 |
Skin |
0.68 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4928G>A |
None |
M0095242 |
EPKPGAKF_00004 |
7207 |
18 |
Skin |
0.82 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4944T>A |
None |
M0095243 |
EPKPGAKF_00009 |
7259 |
9 |
Skin |
0.41 |
protein_coding |
synonymous_variant |
LOW |
1539G>C |
Pro513Pro |
M0095244 |
EPKPGAKF_00009 |
7280 |
18 |
Skin |
0.82 |
protein_coding |
synonymous_variant |
LOW |
1518T>C |
Gly506Gly |
M0095245 |
EPKPGAKF_00009 |
7349 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1449G>A |
Val483Val |
M0095246 |
EPKPGAKF_00009 |
7505 |
5 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
1293G>C |
Glu431Asp |
M0095247 |
EPKPGAKF_00009 |
7522 |
14 |
Skin |
0.64 |
protein_coding |
missense_variant |
MODERATE |
1276G>C |
Glu426Gln |
M0095248 |
EPKPGAKF_00009 |
7556 |
12 |
Skin |
0.55 |
protein_coding |
synonymous_variant |
LOW |
1242T>A |
Val414Val |
M0095249 |
EPKPGAKF_00009 |
7559 |
8 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
1239C>T |
Ser413Ser |
M0095250 |
EPKPGAKF_00009 |
7829 |
11 |
Skin |
0.50 |
protein_coding |
synonymous_variant |
LOW |
969T>A |
Leu323Leu |
M0095251 |
EPKPGAKF_00009 |
8021 |
13 |
Skin |
0.59 |
protein_coding |
synonymous_variant |
LOW |
777G>T |
Val259Val |
M0095252 |
EPKPGAKF_00009 |
8079 |
12 |
Skin |
0.55 |
protein_coding |
missense_variant |
MODERATE |
719T>C |
Val240Ala |
M0095253 |
EPKPGAKF_00009 |
8124 |
4 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
674C>T |
Thr225Ile |
M0095254 |
EPKPGAKF_00009 |
8264 |
12 |
Skin |
0.55 |
protein_coding |
synonymous_variant |
LOW |
534C>T |
Asp178Asp |
M0095255 |
EPKPGAKF_00009 |
8267 |
17 |
Skin |
0.77 |
protein_coding |
synonymous_variant |
LOW |
531T>C |
Gly177Gly |
M0095256 |
EPKPGAKF_00009 |
8294 |
9 |
Skin |
0.41 |
protein_coding |
synonymous_variant |
LOW |
504C>T |
Gly168Gly |
M0095257 |
EPKPGAKF_00009 |
8303 |
17 |
Skin |
0.77 |
protein_coding |
synonymous_variant |
LOW |
495G>T |
Gly165Gly |
M0095258 |
EPKPGAKF_00009 |
8405 |
17 |
Skin |
0.77 |
protein_coding |
synonymous_variant |
LOW |
393C>T |
Asp131Asp |
M0095259 |
EPKPGAKF_00009 |
8531 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
267G>A |
Leu89Leu |
M0095260 |
EPKPGAKF_00009 |
8626 |
16 |
Skin |
0.73 |
protein_coding |
missense_variant |
MODERATE |
172G>A |
Gly58Ser |
M0095261 |
EPKPGAKF_00009 |
8677 |
7 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
121G>A |
Ala41Thr |
M0095262 |
EPKPGAKF_00009 |
8698 |
13 |
Skin |
0.59 |
protein_coding |
missense_variant |
MODERATE |
100C>T |
Leu34Phe |
M0095263 |
EPKPGAKF_00007 |
8844 |
8 |
Skin |
0.36 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3124A>G |
None |
M0095264 |
EPKPGAKF_00007 |
8849 |
5 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3129T>G |
None |
M0095265 |
EPKPGAKF_00007 |
8852 |
5 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3132C>T |
None |
M0095266 |
EPKPGAKF_00007 |
8855 |
9 |
Skin |
0.41 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3135T>G |
None |
M0095267 |
EPKPGAKF_00007 |
8870 |
9 |
Skin |
0.41 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3150G>A |
None |
M0095268 |
EPKPGAKF_00007 |
8909 |
15 |
Skin |
0.68 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3189G>A |
None |
M0095269 |
EPKPGAKF_00007 |
8935 |
11 |
Skin |
0.50 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3215T>C |
None |
M0095270 |
EPKPGAKF_00007 |
8953 |
10 |
Skin |
0.45 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3233A>G |
None |
M0095271 |
EPKPGAKF_00007 |
8954 |
7 |
Skin |
0.32 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3234C>G |
None |
M0095272 |
EPKPGAKF_00010 |
9087 |
9 |
Skin |
0.41 |
protein_coding |
synonymous_variant |
LOW |
492G>T |
Pro164Pro |
M0095273 |
EPKPGAKF_00010 |
9192 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
387G>A |
Leu129Leu |
M0095274 |
EPKPGAKF_00010 |
9231 |
11 |
Skin |
0.50 |
protein_coding |
synonymous_variant |
LOW |
348C>T |
Ile116Ile |
M0095275 |
EPKPGAKF_00010 |
9237 |
12 |
Skin |
0.55 |
protein_coding |
synonymous_variant |
LOW |
342C>T |
Ala114Ala |
M0095276 |
EPKPGAKF_00010 |
9240 |
12 |
Skin |
0.55 |
protein_coding |
synonymous_variant |
LOW |
339C>T |
Asp113Asp |
M0095277 |
EPKPGAKF_00010 |
9273 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
306A>C |
Leu102Leu |
M0095278 |
EPKPGAKF_00010 |
9300 |
6 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
279G>T |
Leu93Phe |
M0095279 |
EPKPGAKF_00010 |
9307 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
272T>C |
Leu91Ser |
M0095280 |
EPKPGAKF_00010 |
9332 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
247A>G |
Thr83Ala |
M0095281 |
EPKPGAKF_00010 |
9334 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
245C>T |
Ala82Val |
M0095282 |
EPKPGAKF_00010 |
9387 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
192G>A |
Gly64Gly |
M0095283 |
EPKPGAKF_00010 |
9401 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
178T>A |
Leu60Met |
M0095284 |
EPKPGAKF_00011 |
10216 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1155T>G |
Thr385Thr |
M0095285 |
EPKPGAKF_00011 |
10613 |
5 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
758A>C |
Asn253Thr |
M0095286 |
EPKPGAKF_00011 |
10615 |
8 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
756G>C |
Val252Val |
M0095287 |
EPKPGAKF_00011 |
10624 |
5 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
747G>A |
Leu249Leu |
M0095288 |
EPKPGAKF_00011 |
10690 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
681T>G |
Gly227Gly |
M0095289 |
EPKPGAKF_00011 |
10702 |
5 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
669A>G |
Thr223Thr |
M0095290 |
EPKPGAKF_00011 |
10705 |
8 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
666T>C |
Arg222Arg |
M0095291 |
EPKPGAKF_00011 |
10748 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
623A>G |
Glu208Gly |
M0095292 |
EPKPGAKF_00011 |
10759 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
612C>T |
Ala204Ala |
M0095293 |
EPKPGAKF_00011 |
10834 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
537C>T |
Gly179Gly |
M0095294 |
EPKPGAKF_00011 |
10855 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
516A>G |
Pro172Pro |
M0095295 |
EPKPGAKF_00011 |
10873 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
498C>T |
Tyr166Tyr |
M0095296 |
EPKPGAKF_00011 |
10876 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
495G>A |
Leu165Leu |
M0095297 |
EPKPGAKF_00011 |
10885 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
486T>C |
Ala162Ala |
M0095298 |
EPKPGAKF_00011 |
10894 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
477A>C |
Val159Val |
M0095299 |
EPKPGAKF_00011 |
11113 |
5 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
258T>C |
Ala86Ala |
M0095300 |
EPKPGAKF_00011 |
11242 |
5 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
129G>A |
Glu43Glu |
M0095301 |
EPKPGAKF_00011 |
11251 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
120T>C |
Leu40Leu |
M0095302 |
EPKPGAKF_00011 |
11347 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
24G>A |
Pro8Pro |
M0095303 |
EPKPGAKF_00008 |
11377 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4251G>T |
None |
M0095304 |
EPKPGAKF_00002 |
5814 |
4 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4954T>G |
None |
M0095305 |
EPKPGAKF_00002 |
5829 |
4 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4969C>T |
None |
M0095306 |
EPKPGAKF_00002 |
5850 |
7 |
Skin |
0.32 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4990C>T |
None |
M0095307 |
EPKPGAKF_00003 |
5873 |
8 |
Skin |
0.36 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3839A>C |
None |
M0095308 |
EPKPGAKF_00003 |
5884 |
8 |
Skin |
0.36 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3850T>C |
None |
M0095309 |
EPKPGAKF_00003 |
5886 |
8 |
Skin |
0.36 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3852T>C |
None |
M0095310 |
EPKPGAKF_00003 |
5902 |
7 |
Skin |
0.32 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3868A>G |
None |
M0095311 |
EPKPGAKF_00008 |
6011 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1116T>C |
Asn372Asn |
M0095312 |
EPKPGAKF_00008 |
6015 |
9 |
Skin |
0.41 |
protein_coding |
missense_variant |
MODERATE |
1112T>C |
Ile371Thr |
M0095313 |
EPKPGAKF_00008 |
6048 |
11 |
Skin |
0.50 |
protein_coding |
missense_variant |
MODERATE |
1079T>A |
Leu360His |
M0095314 |
EPKPGAKF_00008 |
6053 |
10 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
1074T>G |
Thr358Thr |
M0095315 |
EPKPGAKF_00008 |
6068 |
11 |
Skin |
0.50 |
protein_coding |
synonymous_variant |
LOW |
1059G>A |
Gln353Gln |
M0095316 |
EPKPGAKF_00008 |
6092 |
8 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
1035G>A |
Gln345Gln |
M0095317 |
EPKPGAKF_00008 |
6149 |
5 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
978C>T |
His326His |
M0095318 |
EPKPGAKF_00008 |
6152 |
5 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
975A>G |
Glu325Glu |
M0095319 |
EPKPGAKF_00008 |
6170 |
9 |
Skin |
0.41 |
protein_coding |
synonymous_variant |
LOW |
957T>C |
Gly319Gly |
M0095320 |
EPKPGAKF_00008 |
6296 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
831C>T |
Ile277Ile |
M0095321 |
EPKPGAKF_00008 |
6437 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
690A>G |
Ala230Ala |
M0095322 |
EPKPGAKF_00008 |
6560 |
5 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
567G>A |
Leu189Leu |
M0095323 |
EPKPGAKF_00008 |
6583 |
11 |
Skin |
0.50 |
protein_coding |
missense_variant |
MODERATE |
544A>G |
Ile182Val |
M0095324 |
EPKPGAKF_00008 |
6614 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
513G>A |
Ala171Ala |
M0095325 |
EPKPGAKF_00008 |
6758 |
10 |
Skin |
0.45 |
protein_coding |
missense_variant |
MODERATE |
369C>A |
Asp123Glu |
M0095326 |
EPKPGAKF_00008 |
6896 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
231T>C |
Tyr77Tyr |
M0095327 |
EPKPGAKF_00008 |
6941 |
8 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
186G>A |
Ala62Ala |
M0095328 |
EPKPGAKF_00008 |
6965 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
162T>C |
Asp54Asp |
M0095329 |
EPKPGAKF_00008 |
7067 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
60T>C |
Leu20Leu |
M0095330 |
EPKPGAKF_00004 |
7157 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4894A>G |
None |
M0095331 |
EPKPGAKF_00004 |
7168 |
8 |
Skin |
0.36 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4905C>G |
None |
M0095332 |
EPKPGAKF_00004 |
7169 |
8 |
Skin |
0.36 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4906A>T |
None |
M0095333 |
EPKPGAKF_00009 |
7244 |
11 |
Skin |
0.50 |
protein_coding |
synonymous_variant |
LOW |
1554T>C |
Leu518Leu |
M0095334 |
EPKPGAKF_00009 |
7286 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1512A>G |
Leu504Leu |
M0095335 |
EPKPGAKF_00009 |
7499 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1299T>C |
Gly433Gly |
M0095336 |
EPKPGAKF_00009 |
7565 |
5 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1233C>T |
Arg411Arg |
M0095337 |
EPKPGAKF_00009 |
7571 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1227C>T |
Ile409Ile |
M0095338 |
EPKPGAKF_00009 |
7673 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1125C>T |
Asp375Asp |
M0095339 |
EPKPGAKF_00009 |
7706 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1092C>T |
Asp364Asp |
M0095340 |
EPKPGAKF_00009 |
7730 |
11 |
Skin |
0.50 |
protein_coding |
synonymous_variant |
LOW |
1068T>C |
His356His |
M0095341 |
EPKPGAKF_00009 |
7838 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
960C>T |
His320His |
M0095342 |
EPKPGAKF_00009 |
7906 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
892G>A |
Val298Ile |
M0095343 |
EPKPGAKF_00009 |
7931 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
867G>A |
Val289Val |
M0095344 |
EPKPGAKF_00009 |
8076 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
722A>T |
Asp241Val |
M0095345 |
EPKPGAKF_00009 |
8121 |
4 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
677G>A |
Ser226Asn |
M0095346 |
EPKPGAKF_00009 |
8122 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
676A>G |
Ser226Gly |
M0095347 |
EPKPGAKF_00009 |
8288 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
510C>A |
Ser170Ser |
M0095348 |
EPKPGAKF_00009 |
8576 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
222C>T |
Pro74Pro |
M0095349 |
EPKPGAKF_00009 |
8603 |
11 |
Skin |
0.50 |
protein_coding |
missense_variant |
MODERATE |
195G>C |
Met65Ile |
M0095350 |
EPKPGAKF_00009 |
8604 |
14 |
Skin |
0.64 |
protein_coding |
missense_variant |
MODERATE |
194T>C |
Met65Thr |
M0095351 |
EPKPGAKF_00009 |
8645 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
153C>T |
His51His |
M0095352 |
EPKPGAKF_00009 |
8710 |
7 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
88G>A |
Val30Ile |
M0095353 |
EPKPGAKF_00009 |
8738 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
60A>G |
Gln20Gln |
M0095354 |
EPKPGAKF_00007 |
8938 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3218G>A |
None |
M0095355 |
EPKPGAKF_00007 |
8957 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3237A>C |
None |
M0095356 |
EPKPGAKF_00007 |
8962 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3242A>T |
None |
M0095357 |
EPKPGAKF_00007 |
8966 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3246T>C |
None |
M0095358 |
EPKPGAKF_00007 |
8967 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3247G>T |
None |
M0095359 |
EPKPGAKF_00007 |
9004 |
9 |
Skin |
0.41 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3284G>A |
None |
M0095360 |
EPKPGAKF_00007 |
9005 |
9 |
Skin |
0.41 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3285C>G |
None |
M0095361 |
EPKPGAKF_00007 |
9007 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3287C>A |
None |
M0095362 |
EPKPGAKF_00010 |
9021 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
558A>G |
Glu186Glu |
M0095363 |
EPKPGAKF_00010 |
9027 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
552C>A |
Ala184Ala |
M0095364 |
EPKPGAKF_00010 |
9336 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
243G>A |
Gly81Gly |
M0095365 |
EPKPGAKF_00010 |
9372 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
207G>A |
Lys69Lys |
M0095366 |
EPKPGAKF_00010 |
9426 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
153G>T |
Val51Val |
M0095367 |
EPKPGAKF_00010 |
9459 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
120T>C |
Ser40Ser |
M0095368 |
EPKPGAKF_00010 |
9465 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
114C>G |
Val38Val |
M0095369 |
EPKPGAKF_00010 |
9504 |
12 |
Skin |
0.55 |
protein_coding |
synonymous_variant |
LOW |
75T>C |
Asn25Asn |
M0095370 |
EPKPGAKF_00007 |
9674 |
7 |
Skin |
0.32 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3954A>G |
None |
M0095371 |
EPKPGAKF_00007 |
9688 |
8 |
Skin |
0.36 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3968G>A |
None |
M0095372 |
EPKPGAKF_00007 |
9702 |
4 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3982G>C |
None |
M0095373 |
EPKPGAKF_00007 |
9704 |
7 |
Skin |
0.32 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3984A>G |
None |
M0095374 |
EPKPGAKF_00011 |
10609 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
762C>T |
Asp254Asp |
M0095375 |
EPKPGAKF_00006 |
3179 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
267A>G |
Val89Val |
M0095376 |
EPKPGAKF_00006 |
3202 |
9 |
Skin |
0.41 |
protein_coding |
missense_variant |
MODERATE |
290C>A |
Ala97Glu |
M0095377 |
EPKPGAKF_00006 |
3336 |
10 |
Skin |
0.45 |
protein_coding |
missense_variant |
MODERATE |
424A>G |
Asn142Asp |
M0095378 |
EPKPGAKF_00006 |
3359 |
8 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
447G>A |
Lys149Lys |
M0095379 |
EPKPGAKF_00006 |
3377 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
465A>G |
Lys155Lys |
M0095380 |
EPKPGAKF_00006 |
3387 |
6 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
475G>A |
Val159Met |
M0095381 |
EPKPGAKF_00006 |
3390 |
5 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
478G>T |
Ala160Ser |
M0095382 |
EPKPGAKF_00006 |
3507 |
5 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
595T>C |
Leu199Leu |
M0095383 |
EPKPGAKF_00006 |
3515 |
5 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
603A>G |
Thr201Thr |
M0095384 |
EPKPGAKF_00006 |
3536 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
624T>C |
Tyr208Tyr |
M0095385 |
EPKPGAKF_00006 |
3779 |
11 |
Skin |
0.50 |
protein_coding |
synonymous_variant |
LOW |
867T>C |
Asn289Asn |
M0095386 |
EPKPGAKF_00001 |
3853 |
11 |
Skin |
0.50 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3310G>T |
None |
M0095387 |
EPKPGAKF_00007 |
3996 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1725C>T |
Leu575Leu |
M0095388 |
EPKPGAKF_00007 |
4047 |
12 |
Skin |
0.55 |
protein_coding |
missense_variant |
MODERATE |
1674A>T |
Leu558Phe |
M0095389 |
EPKPGAKF_00007 |
4050 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1671C>T |
Ile557Ile |
M0095390 |
EPKPGAKF_00007 |
4053 |
11 |
Skin |
0.50 |
protein_coding |
synonymous_variant |
LOW |
1668T>C |
Asn556Asn |
M0095391 |
EPKPGAKF_00007 |
4149 |
12 |
Skin |
0.55 |
protein_coding |
synonymous_variant |
LOW |
1572C>T |
Asn524Asn |
M0095392 |
EPKPGAKF_00007 |
4151 |
12 |
Skin |
0.55 |
protein_coding |
missense_variant |
MODERATE |
1570A>G |
Asn524Asp |
M0095393 |
EPKPGAKF_00007 |
4152 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1569C>T |
Ala523Ala |
M0095394 |
EPKPGAKF_00007 |
4211 |
5 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
1510G>A |
Asp504Asn |
M0095395 |
EPKPGAKF_00007 |
4308 |
10 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
1413T>C |
Ser471Ser |
M0095396 |
EPKPGAKF_00007 |
4401 |
8 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
1320A>G |
Ser440Ser |
M0095397 |
EPKPGAKF_00007 |
4476 |
9 |
Skin |
0.41 |
protein_coding |
missense_variant |
MODERATE |
1245C>A |
Ser415Arg |
M0095398 |
EPKPGAKF_00007 |
4477 |
9 |
Skin |
0.41 |
protein_coding |
missense_variant |
MODERATE |
1244G>A |
Ser415Asn |
M0095399 |
EPKPGAKF_00007 |
4478 |
9 |
Skin |
0.41 |
protein_coding |
missense_variant |
MODERATE |
1243A>C |
Ser415Arg |
M0095400 |
EPKPGAKF_00007 |
4490 |
10 |
Skin |
0.45 |
protein_coding |
missense_variant |
MODERATE |
1231A>C |
Lys411Gln |
M0095401 |
EPKPGAKF_00007 |
4497 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
1224C>T |
Asp408Asp |
M0095402 |
EPKPGAKF_00007 |
4572 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
1149G>A |
Leu383Leu |
M0095403 |
EPKPGAKF_00007 |
4578 |
8 |
Skin |
0.36 |
protein_coding |
missense_variant |
MODERATE |
1143C>A |
Asn381Lys |
M0095404 |
EPKPGAKF_00007 |
4584 |
11 |
Skin |
0.50 |
protein_coding |
synonymous_variant |
LOW |
1137C>T |
Ala379Ala |
M0095405 |
EPKPGAKF_00007 |
4610 |
5 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
1111G>A |
Glu371Lys |
M0095406 |
EPKPGAKF_00007 |
4620 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1101T>C |
His367His |
M0095407 |
EPKPGAKF_00007 |
4633 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
1088A>C |
Asn363Thr |
M0095408 |
EPKPGAKF_00007 |
4675 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
1046A>G |
Asp349Gly |
M0095409 |
EPKPGAKF_00007 |
5467 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
254G>C |
Ser85Thr |
M0095410 |
EPKPGAKF_00007 |
5472 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
249C>T |
Asp83Asp |
M0095411 |
EPKPGAKF_00007 |
5496 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
225G>A |
Glu75Glu |
M0095412 |
EPKPGAKF_00007 |
5558 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
163G>A |
Asp55Asn |
M0095413 |
EPKPGAKF_00007 |
5643 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
78C>G |
Ala26Ala |
M0095414 |
EPKPGAKF_00003 |
5864 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3830G>A |
None |
M0095415 |
EPKPGAKF_00003 |
5940 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3906T>A |
None |
M0095416 |
EPKPGAKF_00003 |
5958 |
9 |
Skin |
0.41 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3924C>T |
None |
M0095417 |
EPKPGAKF_00008 |
5975 |
9 |
Skin |
0.41 |
protein_coding |
synonymous_variant |
LOW |
1152T>G |
Leu384Leu |
M0095418 |
EPKPGAKF_00008 |
5979 |
8 |
Skin |
0.36 |
protein_coding |
missense_variant |
MODERATE |
1148A>G |
Asn383Ser |
M0095419 |
EPKPGAKF_00008 |
5981 |
8 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
1146T>C |
Tyr382Tyr |
M0095420 |
EPKPGAKF_00008 |
6227 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
900G>C |
Ala300Ala |
M0095421 |
EPKPGAKF_00008 |
6518 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
609G>A |
Lys203Lys |
M0095422 |
EPKPGAKF_00007 |
4066 |
10 |
Skin |
0.45 |
protein_coding |
missense_variant |
MODERATE |
1655C>A |
Thr552Lys |
M0095423 |
EPKPGAKF_00006 |
3764 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
852T>C |
Ile284Ile |
M0095424 |
EPKPGAKF_00006 |
3806 |
5 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
894C>A |
Pro298Pro |
M0095425 |
EPKPGAKF_00006 |
3827 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
915A>G |
Thr305Thr |
M0095426 |
EPKPGAKF_00007 |
3890 |
7 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
1831C>G |
His611Asp |
M0095427 |
EPKPGAKF_00007 |
3892 |
7 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
1829T>C |
Ile610Thr |
M0095428 |
EPKPGAKF_00007 |
3893 |
7 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
1828A>T |
Ile610Phe |
M0095429 |
EPKPGAKF_00007 |
3896 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1825T>C |
Leu609Leu |
M0095430 |
EPKPGAKF_00007 |
3948 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1773A>G |
Glu591Glu |
M0095431 |
EPKPGAKF_00007 |
3968 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1753T>C |
Leu585Leu |
M0095432 |
EPKPGAKF_00007 |
4253 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
1468C>T |
Leu490Leu |
M0095433 |
EPKPGAKF_00007 |
4257 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1464T>C |
Ala488Ala |
M0095434 |
EPKPGAKF_00007 |
4313 |
4 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
1408C>G |
Pro470Ala |
M0095435 |
EPKPGAKF_00007 |
4314 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1407C>A |
Ala469Ala |
M0095436 |
EPKPGAKF_00007 |
4350 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1371T>C |
His457His |
M0095437 |
EPKPGAKF_00007 |
4421 |
5 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1300T>C |
Leu434Leu |
M0095438 |
EPKPGAKF_00007 |
4560 |
5 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1161G>T |
Thr387Thr |
M0095439 |
EPKPGAKF_00008 |
6203 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
924T>C |
Leu308Leu |
M0095440 |
EPKPGAKF_00008 |
6346 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
781C>T |
Leu261Leu |
M0095441 |
EPKPGAKF_00008 |
6995 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
132G>A |
Thr44Thr |
M0095442 |
EPKPGAKF_00008 |
7025 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
102T>C |
Asp34Asp |
M0095443 |
EPKPGAKF_00008 |
7061 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
66C>T |
Ser22Ser |
M0095444 |
EPKPGAKF_00004 |
7170 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4907C>A |
None |
M0095445 |
EPKPGAKF_00006 |
3083 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
171G>C |
Ala57Ala |
M0095446 |
EPKPGAKF_00006 |
3084 |
6 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
172C>G |
Gln58Glu |
M0095447 |
EPKPGAKF_00006 |
3245 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
333T>C |
Gly111Gly |
M0095448 |
EPKPGAKF_00006 |
3326 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
414C>G |
Ile138Met |
M0095449 |
EPKPGAKF_00006 |
3443 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
531G>A |
Glu177Glu |
M0095450 |
EPKPGAKF_00001 |
3871 |
4 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3328A>G |
None |
M0095451 |
EPKPGAKF_00001 |
3872 |
4 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3329C>A |
None |
M0095452 |
EPKPGAKF_00007 |
4224 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1497G>A |
Ser499Ser |
M0095453 |
EPKPGAKF_00007 |
4386 |
5 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1335T>C |
Arg445Arg |
M0095454 |
EPKPGAKF_00007 |
4695 |
5 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1026G>T |
Thr342Thr |
M0095455 |
EPKPGAKF_00007 |
4818 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
903T>C |
Asp301Asp |
M0095456 |
EPKPGAKF_00007 |
4896 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
825C>T |
Tyr275Tyr |
M0095457 |
EPKPGAKF_00008 |
6716 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
411C>T |
Tyr137Tyr |
M0095458 |
EPKPGAKF_00008 |
6803 |
9 |
Skin |
0.41 |
protein_coding |
synonymous_variant |
LOW |
324A>G |
Gly108Gly |
M0095459 |
EPKPGAKF_00009 |
7586 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1212G>A |
Val404Val |
M0095460 |
EPKPGAKF_00011 |
10378 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
993T>C |
Phe331Phe |
M0095461 |
EPKPGAKF_00011 |
10543 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
828A>G |
Ala276Ala |
M0095462 |
EPKPGAKF_00011 |
10579 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
792T>C |
Phe264Phe |
M0095463 |
EPKPGAKF_00007 |
5373 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
348A>C |
Ala116Ala |
M0095464 |
EPKPGAKF_00007 |
5376 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
345C>T |
Ala115Ala |
M0095465 |
EPKPGAKF_00007 |
5379 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
342A>C |
Ala114Ala |
M0095466 |
EPKPGAKF_00007 |
5380 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
341C>T |
Ala114Val |
M0095467 |
EPKPGAKF_00007 |
5382 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
339A>G |
Ser113Ser |
M0095468 |
EPKPGAKF_00007 |
5417 |
4 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
304G>A |
Val102Ile |
M0095469 |
EPKPGAKF_00007 |
5442 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
279G>A |
Leu93Leu |
M0095470 |
EPKPGAKF_00007 |
5505 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
216A>G |
Lys72Lys |
M0095471 |
EPKPGAKF_00007 |
5586 |
5 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
135G>A |
Val45Val |
M0095472 |
EPKPGAKF_00007 |
5658 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
63G>A |
Leu21Leu |
M0095473 |
EPKPGAKF_00002 |
5737 |
4 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4877C>T |
None |
M0095474 |
EPKPGAKF_00002 |
5739 |
4 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4879A>G |
None |
M0095475 |
EPKPGAKF_00002 |
5740 |
4 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4880A>T |
None |
M0095476 |
EPKPGAKF_00002 |
5779 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4919C>T |
None |
M0095477 |
EPKPGAKF_00003 |
5919 |
6 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3885A>G |
None |
M0095478 |
EPKPGAKF_00003 |
5957 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3923C>T |
None |
M0095479 |
EPKPGAKF_00008 |
6014 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1113C>T |
Ile371Ile |
M0095480 |
EPKPGAKF_00008 |
6059 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1068G>A |
Ser356Ser |
M0095481 |
EPKPGAKF_00008 |
6074 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1053C>T |
Ala351Ala |
M0095482 |
EPKPGAKF_00008 |
6266 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
861C>T |
Pro287Pro |
M0095483 |
EPKPGAKF_00008 |
6339 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
788T>C |
Leu263Ser |
M0095484 |
EPKPGAKF_00008 |
6458 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
669G>A |
Val223Val |
M0095485 |
EPKPGAKF_00008 |
6617 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
510C>G |
Gly170Gly |
M0095486 |
EPKPGAKF_00008 |
6980 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
147C>T |
Asn49Asn |
M0095487 |
EPKPGAKF_00009 |
7215 |
5 |
Skin |
0.23 |
protein_coding |
stop_gained |
HIGH |
1583C>A |
Ser528* |
M0095488 |
EPKPGAKF_00009 |
7391 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1407A>G |
Pro469Pro |
M0095489 |
EPKPGAKF_00009 |
7514 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
1284T>C |
Asp428Asp |
M0095490 |
EPKPGAKF_00009 |
7640 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1158C>T |
Ala386Ala |
M0095491 |
EPKPGAKF_00009 |
7649 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1149A>G |
Pro383Pro |
M0095492 |
EPKPGAKF_00009 |
7775 |
8 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
1023C>T |
Phe341Phe |
M0095493 |
EPKPGAKF_00009 |
7792 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1006C>T |
Leu336Leu |
M0095494 |
EPKPGAKF_00009 |
8096 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
702G>A |
Val234Val |
M0095495 |
EPKPGAKF_00009 |
8468 |
11 |
Skin |
0.50 |
protein_coding |
synonymous_variant |
LOW |
330A>G |
Ala110Ala |
M0095496 |
EPKPGAKF_00009 |
8516 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
282G>A |
Ala94Ala |
M0095497 |
EPKPGAKF_00010 |
9144 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
435C>T |
Val145Val |
M0095498 |
EPKPGAKF_00010 |
9147 |
6 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
432T>G |
Thr144Thr |
M0095499 |
EPKPGAKF_00010 |
9357 |
10 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
222T>C |
Ile74Ile |
M0095500 |
EPKPGAKF_00007 |
9615 |
8 |
Skin |
0.36 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3895T>G |
None |
M0095501 |
EPKPGAKF_00006 |
3803 |
5 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
891A>G |
Ile297Met |
M0095502 |
EPKPGAKF_00007 |
4947 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
774T>C |
Ala258Ala |
M0095503 |
EPKPGAKF_00007 |
5195 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
526A>G |
Thr176Ala |
M0095504 |
EPKPGAKF_00008 |
6839 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
288C>T |
Asn96Asn |
M0095505 |
EPKPGAKF_00008 |
6971 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
156C>A |
Thr52Thr |
M0095506 |
EPKPGAKF_00009 |
7277 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1521T>C |
Gly507Gly |
M0095507 |
EPKPGAKF_00006 |
3059 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
147C>T |
Asn49Asn |
M0095508 |
EPKPGAKF_00006 |
3062 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
150C>T |
Tyr50Tyr |
M0095509 |
EPKPGAKF_00007 |
4464 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1257C>T |
Ala419Ala |
M0095510 |
EPKPGAKF_00008 |
6605 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
522A>G |
Gln174Gln |
M0095511 |
EPKPGAKF_00009 |
8198 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
600G>A |
Val200Val |
M0095512 |
EPKPGAKF_00009 |
8207 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
591C>T |
Cys197Cys |
M0095513 |
EPKPGAKF_00009 |
8387 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
411C>T |
Thr137Thr |
M0095514 |
EPKPGAKF_00010 |
9501 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
78A>C |
Leu26Leu |
M0095515 |
EPKPGAKF_00010 |
9503 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
76C>T |
Leu26Leu |
M0095516 |
EPKPGAKF_00010 |
9561 |
10 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
18T>C |
Asn6Asn |
M0095517 |
EPKPGAKF_00007 |
9579 |
7 |
Skin |
0.32 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3859T>A |
None |
M0095518 |
EPKPGAKF_00011 |
10372 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
999C>T |
Gly333Gly |
M0095519 |
EPKPGAKF_00011 |
10456 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
915C>G |
Thr305Thr |
M0095520 |
EPKPGAKF_00011 |
10891 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
480A>G |
Glu160Glu |
M0095521 |
EPKPGAKF_00008 |
6956 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
171C>T |
Ala57Ala |
M0095522 |
EPKPGAKF_00008 |
6959 |
5 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
168T>C |
His56His |
M0095523 |
EPKPGAKF_00008 |
7028 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
99A>G |
Ala33Ala |
M0095524 |
EPKPGAKF_00009 |
7337 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1461C>T |
Pro487Pro |
M0095525 |
EPKPGAKF_00009 |
7388 |
4 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
1410G>A |
Met470Ile |
M0095526 |
EPKPGAKF_00009 |
7475 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1323G>C |
Ala441Ala |
M0095527 |
EPKPGAKF_00009 |
7481 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1317C>T |
Ile439Ile |
M0095528 |
EPKPGAKF_00009 |
7538 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1260G>A |
Val420Val |
M0095529 |
EPKPGAKF_00009 |
7643 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1155T>C |
Gly385Gly |
M0095530 |
EPKPGAKF_00009 |
7843 |
4 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
955C>A |
His319Asn |
M0095531 |
EPKPGAKF_00009 |
7862 |
5 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
936C>G |
Arg312Arg |
M0095532 |
EPKPGAKF_00009 |
7863 |
5 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
935G>A |
Arg312His |
M0095533 |
EPKPGAKF_00009 |
7892 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
906C>T |
Asn302Asn |
M0095534 |
EPKPGAKF_00009 |
7925 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
873C>T |
Pro291Pro |
M0095535 |
EPKPGAKF_00009 |
7926 |
4 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
872C>G |
Pro291Arg |
M0095536 |
EPKPGAKF_00009 |
8069 |
5 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
729C>G |
Asp243Glu |
M0095537 |
EPKPGAKF_00009 |
8075 |
5 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
723T>A |
Asp241Glu |
M0095538 |
EPKPGAKF_00009 |
8077 |
5 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
721G>A |
Asp241Asn |
M0095539 |
EPKPGAKF_00009 |
8155 |
4 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
643C>T |
Leu215Phe |
M0095540 |
EPKPGAKF_00009 |
8245 |
4 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
553C>G |
Leu185Val |
M0095541 |
EPKPGAKF_00009 |
8307 |
4 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
491C>T |
Thr164Ile |
M0095542 |
EPKPGAKF_00009 |
8308 |
5 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
490A>G |
Thr164Ala |
M0095543 |
EPKPGAKF_00009 |
8345 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
453G>A |
Pro151Pro |
M0095544 |
EPKPGAKF_00009 |
8371 |
4 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
427G>A |
Glu143Lys |
M0095545 |
EPKPGAKF_00009 |
8381 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
417G>A |
Val139Val |
M0095546 |
EPKPGAKF_00009 |
8382 |
4 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
416T>C |
Val139Ala |
M0095547 |
EPKPGAKF_00009 |
8395 |
4 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
403A>G |
Asn135Asp |
M0095548 |
EPKPGAKF_00009 |
8398 |
4 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
400G>A |
Ala134Thr |
M0095549 |
EPKPGAKF_00009 |
8404 |
4 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
394A>G |
Met132Val |
M0095550 |
EPKPGAKF_00009 |
8518 |
4 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
280G>A |
Ala94Thr |
M0095551 |
EPKPGAKF_00009 |
8592 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
206C>T |
Thr69Met |
M0095552 |
EPKPGAKF_00010 |
9522 |
7 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
57C>A |
Ala19Ala |
M0095553 |
EPKPGAKF_00010 |
9531 |
4 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
48A>T |
Ala16Ala |
M0095554 |
EPKPGAKF_00010 |
9540 |
4 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
39C>A |
Asp13Glu |
M0095555 |
EPKPGAKF_00007 |
9589 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3869G>A |
None |
M0095556 |
EPKPGAKF_00011 |
10777 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
594G>C |
Thr198Thr |
Analysis of virulence factors contributing to bacterial pathogenicity
This table presents virulence factors identified within the plasmid cluster.
Note: Virulence factor analysis was performed using VFDB. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known virulence factors are listed.
Gene Name |
vf_gene_id |
vf_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
vf_category |
gene_description |
condition |
Analysis of biocide and heavy metal resistance genes to assess antimicrobial risk and environmental impact
This table presents biocides and heavy metals resistance genes identified within the plasmid cluster.
Note: Analyzing biocide and heavy metal resistance genes based on BacMet to evaluate bacterial resistance risk and the potential impact of environmental heavy metal contamination. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, E-value < 1e-5) to known biocide and heavy metal resistance genes are listed.
Gene Name |
compound |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
group |
Analyzing antimicrobial resistance genes to assess bacterial resistance to antibiotics and other antimicrobial agents
This table presents antimicrobial resistance genes identified within the plasmid cluster.
Note: Antimicrobial resistance was performed using CARD. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known antimicrobial resistance genes are listed.
Gene Name |
aro_accession |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
drug_class |
amr_gene_family |
resistance_mechanism |
Analysis of pathogenicity genes to explore pathogen-host interactions
This table presents host pathogen-host interactions within the plasmid cluster.
Note: Analyzing pathogenicity-related genes using PHI-base to understand pathogen virulence mechanisms and their impact on host interactions. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e-5) to known pathogenicity-related genes are listed.
Gene Name |
phi_molconn_id |
host gene_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
host_descripton |
disease_name |
function |
phenotype_of_mutant |
Analyzing carbohydrate-active enzyme genes to uncover mechanisms of nutrient degradation
This table presents carbohydrate-active enzyme genes identified within the plasmid cluster.
Note: Annotation of carbohydrate-active enzyme genes was performed using CAZy to explore mechanisms of nutrient breakdown and utilization. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known CAZyme genes are listed.
Gene Name |
cazy_id |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
Analyzing transport proteins to understand bacterial strategies for substrate uptake and detoxification
This table presents transport proteins within the plasmid cluster.
Note: Investigation of transport proteins based on TCDB to uncover bacterial mechanisms of substrate transport and environmental detoxification. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known transport protein entries are listed.
Gene Name |
tcid |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
class_field |
class_term |
subclass |
subclass_term |
family |
family_term |