Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C1727 |
Reference Plasmid |
1111525849639130_bin.6__k141_449296 |
Reference Plasmid Size |
21167 |
Reference Plasmid GC Content |
0.32 |
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 |
M0012332 |
JEEELABD_00011 |
11651 |
32 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
606G>C |
Val202Val |
M0012333 |
JEEELABD_00011 |
11753 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
708A>T |
Gly236Gly |
M0012334 |
JEEELABD_00011 |
11857 |
38 |
Skin |
0.34 |
protein_coding |
missense_variant |
MODERATE |
812T>A |
Phe271Tyr |
M0012335 |
JEEELABD_00012 |
12684 |
48 |
Skin |
0.42 |
protein_coding |
missense_variant |
MODERATE |
577A>G |
Lys193Glu |
M0012336 |
JEEELABD_00012 |
14236 |
55 |
Skin |
0.49 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-976T>C |
None |
M0012337 |
JEEELABD_00012 |
14289 |
6 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1029A>G |
None |
M0012338 |
JEEELABD_00015 |
15320 |
27 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
427G>A |
Asp143Asn |
M0012339 |
JEEELABD_00016 |
16080 |
80 |
Skin |
0.71 |
protein_coding |
missense_variant |
MODERATE |
313T>C |
Ser105Pro |
M0012340 |
JEEELABD_00017 |
16546 |
78 |
Skin |
0.69 |
protein_coding |
synonymous_variant |
LOW |
105T>C |
Gly35Gly |
M0012341 |
JEEELABD_00017 |
16612 |
22 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
171C>T |
Asp57Asp |
M0012342 |
JEEELABD_00018 |
17612 |
75 |
Skin |
0.66 |
protein_coding |
synonymous_variant |
LOW |
288T>C |
Asp96Asp |
M0012343 |
JEEELABD_00018 |
17627 |
76 |
Skin |
0.67 |
protein_coding |
synonymous_variant |
LOW |
303T>C |
Asp101Asp |
M0012344 |
JEEELABD_00018 |
17645 |
76 |
Skin |
0.67 |
protein_coding |
synonymous_variant |
LOW |
321T>C |
Pro107Pro |
M0012345 |
JEEELABD_00018 |
17648 |
76 |
Skin |
0.67 |
protein_coding |
synonymous_variant |
LOW |
324A>G |
Val108Val |
M0012346 |
JEEELABD_00018 |
17663 |
76 |
Skin |
0.67 |
protein_coding |
synonymous_variant |
LOW |
339C>T |
Asn113Asn |
M0012347 |
JEEELABD_00018 |
17684 |
76 |
Skin |
0.67 |
protein_coding |
synonymous_variant |
LOW |
360A>T |
Ser120Ser |
M0012348 |
JEEELABD_00018 |
17699 |
79 |
Skin |
0.70 |
protein_coding |
synonymous_variant |
LOW |
375T>C |
His125His |
M0012349 |
JEEELABD_00018 |
17706 |
79 |
Skin |
0.70 |
protein_coding |
missense_variant |
MODERATE |
382A>G |
Ile128Val |
M0012350 |
JEEELABD_00018 |
17711 |
79 |
Skin |
0.70 |
protein_coding |
synonymous_variant |
LOW |
387T>C |
Ile129Ile |
M0012351 |
JEEELABD_00018 |
17729 |
79 |
Skin |
0.70 |
protein_coding |
synonymous_variant |
LOW |
405C>T |
Gly135Gly |
M0012352 |
JEEELABD_00018 |
17762 |
35 |
Skin |
0.31 |
protein_coding |
synonymous_variant |
LOW |
438C>T |
Asp146Asp |
M0012353 |
JEEELABD_00014 |
19634 |
50 |
Skin |
0.44 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4543T>C |
None |
M0012354 |
JEEELABD_00014 |
19664 |
11 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4573G>A |
None |
M0012355 |
JEEELABD_00015 |
20429 |
20 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4683G>A |
None |
M0012356 |
JEEELABD_00016 |
21112 |
4 |
Skin |
0.04 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4838A>G |
None |
M0012357 |
JEEELABD_00016 |
21116 |
4 |
Skin |
0.04 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4842C>T |
None |
M0012358 |
JEEELABD_00016 |
21119 |
4 |
Skin |
0.04 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4845C>T |
None |
M0012359 |
JEEELABD_00016 |
21122 |
4 |
Skin |
0.04 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4848A>G |
None |
M0012360 |
JEEELABD_00010 |
10680 |
17 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1572T>G |
Ala524Ala |
M0012361 |
JEEELABD_00011 |
11354 |
28 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
309A>G |
Ser103Ser |
M0012362 |
JEEELABD_00012 |
12007 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1254A>C |
Lys418Asn |
M0012363 |
JEEELABD_00012 |
12175 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1086T>G |
Gly362Gly |
M0012364 |
JEEELABD_00012 |
12192 |
31 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1069C>T |
Leu357Leu |
M0012365 |
JEEELABD_00012 |
12325 |
32 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
936G>A |
Ser312Ser |
M0012366 |
JEEELABD_00012 |
12439 |
17 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
822G>T |
Thr274Thr |
M0012367 |
JEEELABD_00012 |
12977 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
284C>T |
Pro95Leu |
M0012368 |
JEEELABD_00012 |
13216 |
37 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
45G>A |
Gly15Gly |
M0012369 |
JEEELABD_00012 |
13219 |
16 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
42T>C |
Tyr14Tyr |
M0012370 |
JEEELABD_00013 |
13774 |
26 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
301G>A |
Glu101Lys |
M0012371 |
JEEELABD_00013 |
14051 |
12 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
24G>A |
Thr8Thr |
M0012372 |
JEEELABD_00012 |
14357 |
33 |
Skin |
0.29 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1097C>A |
None |
M0012373 |
JEEELABD_00012 |
14358 |
30 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1098T>C |
None |
M0012374 |
JEEELABD_00012 |
14366 |
42 |
Skin |
0.37 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1106T>C |
None |
M0012375 |
JEEELABD_00012 |
14379 |
42 |
Skin |
0.37 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1119C>T |
None |
M0012376 |
JEEELABD_00012 |
14394 |
41 |
Skin |
0.36 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1134G>A |
None |
M0012377 |
JEEELABD_00012 |
14401 |
20 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1141T>C |
None |
M0012378 |
JEEELABD_00012 |
14410 |
7 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1150A>G |
None |
M0012379 |
JEEELABD_00012 |
14417 |
7 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1157G>A |
None |
M0012380 |
JEEELABD_00012 |
14422 |
43 |
Skin |
0.38 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1162C>T |
None |
M0012381 |
JEEELABD_00014 |
14435 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
657A>G |
Thr219Thr |
M0012382 |
JEEELABD_00014 |
14501 |
6 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
591A>T |
Leu197Phe |
M0012383 |
JEEELABD_00014 |
14503 |
45 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
589T>G |
Leu197Val |
M0012384 |
JEEELABD_00014 |
14534 |
14 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
558T>C |
Leu186Leu |
M0012385 |
JEEELABD_00015 |
15174 |
33 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
573G>T |
Thr191Thr |
M0012386 |
JEEELABD_00015 |
15603 |
25 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
144A>G |
Lys48Lys |
M0012387 |
JEEELABD_00015 |
15636 |
12 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
111A>T |
Arg37Arg |
M0012388 |
JEEELABD_00012 |
15756 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2496T>C |
None |
M0012389 |
JEEELABD_00017 |
16513 |
76 |
Skin |
0.67 |
protein_coding |
synonymous_variant |
LOW |
72C>T |
Asn24Asn |
M0012390 |
JEEELABD_00017 |
16519 |
12 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
78A>G |
Glu26Glu |
M0012391 |
JEEELABD_00017 |
16541 |
14 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
100A>C |
Asn34His |
M0012392 |
JEEELABD_00017 |
16576 |
50 |
Skin |
0.44 |
protein_coding |
synonymous_variant |
LOW |
135G>A |
Ala45Ala |
M0012393 |
JEEELABD_00017 |
16621 |
51 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
180C>A |
Val60Val |
M0012394 |
JEEELABD_00017 |
16657 |
77 |
Skin |
0.68 |
protein_coding |
synonymous_variant |
LOW |
216C>T |
Asp72Asp |
M0012395 |
JEEELABD_00017 |
16999 |
46 |
Skin |
0.41 |
protein_coding |
synonymous_variant |
LOW |
558G>A |
Gln186Gln |
M0012396 |
JEEELABD_00017 |
17299 |
27 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
858A>G |
Glu286Glu |
M0012397 |
JEEELABD_00018 |
17358 |
29 |
Skin |
0.26 |
protein_coding |
missense_variant |
MODERATE |
34G>A |
Val12Ile |
M0012398 |
JEEELABD_00018 |
17382 |
11 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
58T>G |
Ser20Ala |
M0012399 |
JEEELABD_00018 |
17384 |
28 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
60A>G |
Ser20Ser |
M0012400 |
JEEELABD_00018 |
17387 |
28 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
63A>G |
Lys21Lys |
M0012401 |
JEEELABD_00018 |
17393 |
11 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
69A>G |
Leu23Leu |
M0012402 |
JEEELABD_00018 |
17399 |
28 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
75T>G |
Gly25Gly |
M0012403 |
JEEELABD_00018 |
17405 |
25 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
81C>A |
Leu27Leu |
M0012404 |
JEEELABD_00018 |
17450 |
11 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
126A>G |
Lys42Lys |
M0012405 |
JEEELABD_00018 |
17525 |
30 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
201A>G |
Gln67Gln |
M0012406 |
JEEELABD_00018 |
17527 |
30 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
203A>G |
Asn68Ser |
M0012407 |
JEEELABD_00018 |
17702 |
45 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
378G>A |
Leu126Leu |
M0012408 |
JEEELABD_00012 |
18145 |
10 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4885C>T |
None |
M0012409 |
JEEELABD_00012 |
18155 |
9 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4895G>A |
None |
M0012410 |
JEEELABD_00012 |
18157 |
42 |
Skin |
0.37 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4897A>T |
None |
M0012411 |
JEEELABD_00013 |
18269 |
48 |
Skin |
0.42 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4195T>C |
None |
M0012412 |
JEEELABD_00010 |
10758 |
10 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1650A>G |
Ser550Ser |
M0012413 |
JEEELABD_00011 |
10806 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-240G>T |
None |
M0012414 |
JEEELABD_00011 |
10815 |
17 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-231T>G |
None |
M0012415 |
JEEELABD_00011 |
10829 |
15 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-217A>C |
None |
M0012416 |
JEEELABD_00011 |
10860 |
17 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-186A>G |
None |
M0012417 |
JEEELABD_00011 |
10912 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-134T>A |
None |
M0012418 |
JEEELABD_00011 |
11059 |
6 |
Skin |
0.05 |
protein_coding |
stop_gained |
HIGH |
14T>G |
Leu5* |
M0012419 |
JEEELABD_00011 |
11066 |
11 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
21A>T |
Leu7Phe |
M0012420 |
JEEELABD_00011 |
11085 |
13 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
40A>G |
Ile14Val |
M0012421 |
JEEELABD_00011 |
11528 |
18 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
483C>T |
Gly161Gly |
M0012422 |
JEEELABD_00012 |
13120 |
21 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
141G>A |
Glu47Glu |
M0012423 |
JEEELABD_00012 |
13321 |
30 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-61G>T |
None |
M0012424 |
JEEELABD_00013 |
13838 |
9 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
237A>C |
Ile79Ile |
M0012425 |
JEEELABD_00013 |
13875 |
37 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
200A>G |
Gln67Arg |
M0012426 |
JEEELABD_00013 |
13923 |
36 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
152A>G |
Lys51Arg |
M0012427 |
JEEELABD_00012 |
14091 |
6 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-831A>C |
None |
M0012428 |
JEEELABD_00012 |
14390 |
12 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1130A>T |
None |
M0012429 |
JEEELABD_00014 |
14510 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
582C>T |
His194His |
M0012430 |
JEEELABD_00014 |
14873 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
219A>G |
Glu73Glu |
M0012431 |
JEEELABD_00014 |
14882 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
210T>A |
Arg70Arg |
M0012432 |
JEEELABD_00014 |
14999 |
32 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
93T>C |
Asp31Asp |
M0012433 |
JEEELABD_00016 |
15926 |
39 |
Skin |
0.35 |
protein_coding |
synonymous_variant |
LOW |
159T>C |
His53His |
M0012434 |
JEEELABD_00016 |
15953 |
49 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
186T>G |
Ala62Ala |
M0012435 |
JEEELABD_00012 |
16288 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3028A>T |
None |
M0012436 |
JEEELABD_00012 |
16346 |
46 |
Skin |
0.41 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3086T>C |
None |
M0012437 |
JEEELABD_00012 |
16359 |
11 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3099G>A |
None |
M0012438 |
JEEELABD_00012 |
16375 |
55 |
Skin |
0.49 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3115T>A |
None |
M0012439 |
JEEELABD_00012 |
16386 |
44 |
Skin |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3126A>G |
None |
M0012440 |
JEEELABD_00012 |
16391 |
31 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3131A>T |
None |
M0012441 |
JEEELABD_00017 |
16462 |
20 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
21T>G |
Thr7Thr |
M0012442 |
JEEELABD_00012 |
17973 |
6 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4713G>A |
None |
M0012443 |
JEEELABD_00012 |
17988 |
39 |
Skin |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4728T>A |
None |
M0012444 |
JEEELABD_00012 |
18019 |
6 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4759T>C |
None |
M0012445 |
JEEELABD_00012 |
18059 |
19 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4799G>T |
None |
M0012446 |
JEEELABD_00012 |
18072 |
7 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4812T>C |
None |
M0012447 |
JEEELABD_00012 |
18080 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4820T>C |
None |
M0012448 |
JEEELABD_00012 |
18083 |
7 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4823G>A |
None |
M0012449 |
JEEELABD_00012 |
18096 |
6 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4836A>T |
None |
M0012450 |
JEEELABD_00012 |
18098 |
6 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4838A>T |
None |
M0012451 |
JEEELABD_00012 |
18126 |
25 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4866C>T |
None |
M0012452 |
JEEELABD_00012 |
18173 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4913C>T |
None |
M0012453 |
JEEELABD_00012 |
18188 |
32 |
Skin |
0.28 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4928G>A |
None |
M0012454 |
JEEELABD_00012 |
18189 |
26 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4929A>T |
None |
M0012455 |
JEEELABD_00012 |
18198 |
9 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4938A>T |
None |
M0012456 |
JEEELABD_00012 |
18218 |
9 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4958C>T |
None |
M0012457 |
JEEELABD_00007 |
6245 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
240A>C |
Gly80Gly |
M0012458 |
JEEELABD_00007 |
6263 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
258C>T |
Arg86Arg |
M0012459 |
JEEELABD_00007 |
6269 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
264T>C |
Asp88Asp |
M0012460 |
JEEELABD_00007 |
6275 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
270C>T |
Asn90Asn |
M0012461 |
JEEELABD_00007 |
6331 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
326A>C |
Glu109Ala |
M0012462 |
JEEELABD_00007 |
6347 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
342G>A |
Gly114Gly |
M0012463 |
JEEELABD_00007 |
6365 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
360C>T |
Asp120Asp |
M0012464 |
JEEELABD_00007 |
6401 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
396A>G |
Gln132Gln |
M0012465 |
JEEELABD_00007 |
6417 |
10 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
412T>C |
Ser138Pro |
M0012466 |
JEEELABD_00007 |
6441 |
9 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
436G>A |
Val146Ile |
M0012467 |
JEEELABD_00007 |
6500 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
495C>G |
Gly165Gly |
M0012468 |
JEEELABD_00007 |
6611 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
606T>A |
Ala202Ala |
M0012469 |
JEEELABD_00007 |
6614 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
609C>T |
Ala203Ala |
M0012470 |
JEEELABD_00007 |
6623 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
618C>T |
Leu206Leu |
M0012471 |
JEEELABD_00007 |
6665 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
660G>A |
Leu220Leu |
M0012472 |
JEEELABD_00007 |
6737 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
732A>C |
Gly244Gly |
M0012473 |
JEEELABD_00007 |
6782 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
777C>T |
Ile259Ile |
M0012474 |
JEEELABD_00007 |
7040 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1035A>G |
Leu345Leu |
M0012475 |
JEEELABD_00005 |
7083 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2749T>G |
None |
M0012476 |
JEEELABD_00005 |
7104 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2770C>T |
None |
M0012477 |
JEEELABD_00005 |
7109 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2775G>T |
None |
M0012478 |
JEEELABD_00005 |
7112 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2778A>C |
None |
M0012479 |
JEEELABD_00005 |
7158 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2824T>C |
None |
M0012480 |
JEEELABD_00005 |
7177 |
8 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2843A>C |
None |
M0012481 |
JEEELABD_00005 |
7207 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2873A>T |
None |
M0012482 |
JEEELABD_00005 |
7211 |
9 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2877A>G |
None |
M0012483 |
JEEELABD_00005 |
7266 |
8 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2932A>G |
None |
M0012484 |
JEEELABD_00005 |
7272 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2938C>T |
None |
M0012485 |
JEEELABD_00005 |
7298 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2964C>T |
None |
M0012486 |
JEEELABD_00008 |
7428 |
6 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
77C>T |
Ser26Leu |
M0012487 |
JEEELABD_00008 |
7501 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
150C>T |
Ile50Ile |
M0012488 |
JEEELABD_00008 |
7536 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
185T>A |
Leu62His |
M0012489 |
JEEELABD_00008 |
7557 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
206A>G |
Gln69Arg |
M0012490 |
JEEELABD_00008 |
7594 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
243A>C |
Gly81Gly |
M0012491 |
JEEELABD_00008 |
7601 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
250C>A |
Arg84Arg |
M0012492 |
JEEELABD_00008 |
7610 |
8 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
259T>A |
Ser87Thr |
M0012493 |
JEEELABD_00008 |
7669 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
318A>C |
Ile106Ile |
M0012494 |
JEEELABD_00008 |
7672 |
12 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
321A>C |
Ile107Ile |
M0012495 |
JEEELABD_00008 |
7693 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
342G>A |
Arg114Arg |
M0012496 |
JEEELABD_00008 |
7738 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
387C>T |
Ala129Ala |
M0012497 |
JEEELABD_00008 |
7753 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
402A>T |
Ala134Ala |
M0012498 |
JEEELABD_00008 |
7828 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
477A>T |
Ile159Ile |
M0012499 |
JEEELABD_00009 |
8094 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
34C>A |
Arg12Arg |
M0012500 |
JEEELABD_00009 |
8189 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
129C>T |
Asp43Asp |
M0012501 |
JEEELABD_00009 |
8315 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
255G>A |
Lys85Lys |
M0012502 |
JEEELABD_00009 |
8357 |
12 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
297T>C |
Ile99Ile |
M0012503 |
JEEELABD_00009 |
8432 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
372A>C |
Val124Val |
M0012504 |
JEEELABD_00009 |
8535 |
9 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
475C>A |
Gln159Lys |
M0012505 |
JEEELABD_00009 |
8538 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
478T>G |
Ser160Ala |
M0012506 |
JEEELABD_00009 |
8579 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
519A>G |
Gly173Gly |
M0012507 |
JEEELABD_00009 |
8594 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
534G>A |
Gly178Gly |
M0012508 |
JEEELABD_00009 |
8636 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
576A>T |
Thr192Thr |
M0012509 |
JEEELABD_00009 |
8642 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
582A>T |
Ile194Ile |
M0012510 |
JEEELABD_00009 |
8699 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
639T>C |
Ile213Ile |
M0012511 |
JEEELABD_00009 |
8753 |
10 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
693C>T |
Cys231Cys |
M0012512 |
JEEELABD_00009 |
8795 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
735T>C |
Ile245Ile |
M0012513 |
JEEELABD_00009 |
8847 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
787C>T |
Pro263Ser |
M0012514 |
JEEELABD_00009 |
9023 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
963T>C |
Asp321Asp |
M0012515 |
JEEELABD_00010 |
9156 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
48C>A |
Val16Val |
M0012516 |
JEEELABD_00010 |
9213 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
105T>C |
Leu35Leu |
M0012517 |
JEEELABD_00010 |
9219 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
111T>C |
Asn37Asn |
M0012518 |
JEEELABD_00010 |
9234 |
10 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
126A>G |
Lys42Lys |
M0012519 |
JEEELABD_00010 |
9246 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
138C>T |
Ala46Ala |
M0012520 |
JEEELABD_00010 |
9267 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
159G>A |
Gly53Gly |
M0012521 |
JEEELABD_00010 |
9312 |
11 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
204T>C |
Gly68Gly |
M0012522 |
JEEELABD_00010 |
9322 |
6 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
214G>A |
Gly72Ser |
M0012523 |
JEEELABD_00010 |
9330 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
222C>T |
Gly74Gly |
M0012524 |
JEEELABD_00010 |
9366 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
258T>C |
Tyr86Tyr |
M0012525 |
JEEELABD_00010 |
9381 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
273C>T |
Asn91Asn |
M0012526 |
JEEELABD_00010 |
9384 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
276C>A |
Pro92Pro |
M0012527 |
JEEELABD_00010 |
9408 |
6 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
300T>G |
Asn100Lys |
M0012528 |
JEEELABD_00010 |
9411 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
303G>A |
Gln101Gln |
M0012529 |
JEEELABD_00010 |
9486 |
12 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
378G>A |
Lys126Lys |
M0012530 |
JEEELABD_00010 |
9495 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
387A>G |
Lys129Lys |
M0012531 |
JEEELABD_00010 |
9501 |
12 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
393C>T |
Phe131Phe |
M0012532 |
JEEELABD_00010 |
9546 |
14 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
438G>A |
Pro146Pro |
M0012533 |
JEEELABD_00010 |
9552 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
444A>T |
Ile148Ile |
M0012534 |
JEEELABD_00010 |
9606 |
6 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
498G>T |
Lys166Asn |
M0012535 |
JEEELABD_00010 |
9627 |
10 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
519A>T |
Gln173His |
M0012536 |
JEEELABD_00010 |
9635 |
10 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
527A>T |
Tyr176Phe |
M0012537 |
JEEELABD_00010 |
9666 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
558C>T |
Ser186Ser |
M0012538 |
JEEELABD_00010 |
9675 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
567G>A |
Val189Val |
M0012539 |
JEEELABD_00010 |
9687 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
579A>C |
Ile193Ile |
M0012540 |
JEEELABD_00010 |
9697 |
10 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
589G>A |
Val197Ile |
M0012541 |
JEEELABD_00010 |
9900 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
792T>C |
Phe264Phe |
M0012542 |
JEEELABD_00010 |
9930 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
822C>T |
Ile274Ile |
M0012543 |
JEEELABD_00010 |
10008 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
900T>C |
Ala300Ala |
M0012544 |
JEEELABD_00010 |
10020 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
912T>C |
Phe304Phe |
M0012545 |
JEEELABD_00010 |
10053 |
10 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
945A>G |
Lys315Lys |
M0012546 |
JEEELABD_00010 |
10071 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
963C>T |
Asp321Asp |
M0012547 |
JEEELABD_00010 |
10080 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
972A>C |
Gly324Gly |
M0012548 |
JEEELABD_00010 |
10163 |
8 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1055G>A |
Arg352Lys |
M0012549 |
JEEELABD_00010 |
10304 |
8 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1196A>G |
Asn399Ser |
M0012550 |
JEEELABD_00010 |
10308 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1200A>G |
Gly400Gly |
M0012551 |
JEEELABD_00010 |
10377 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1269T>C |
His423His |
M0012552 |
JEEELABD_00010 |
10390 |
11 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1282C>T |
Leu428Leu |
M0012553 |
JEEELABD_00010 |
10445 |
13 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1337G>A |
Ser446Asn |
M0012554 |
JEEELABD_00010 |
10638 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1530T>C |
Val510Val |
M0012555 |
JEEELABD_00010 |
10713 |
10 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1605G>A |
Val535Val |
M0012556 |
JEEELABD_00010 |
10719 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1611G>A |
Pro537Pro |
M0012557 |
JEEELABD_00010 |
10731 |
9 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1623A>G |
Lys541Lys |
M0012558 |
JEEELABD_00011 |
10843 |
10 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-203G>T |
None |
M0012559 |
JEEELABD_00011 |
10853 |
8 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-193T>C |
None |
M0012560 |
JEEELABD_00011 |
10970 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-76T>A |
None |
M0012561 |
JEEELABD_00011 |
10998 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-48A>T |
None |
M0012562 |
JEEELABD_00011 |
11001 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-45A>G |
None |
M0012563 |
JEEELABD_00011 |
11018 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-28C>T |
None |
M0012564 |
JEEELABD_00011 |
11036 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-10G>A |
None |
M0012565 |
JEEELABD_00011 |
11051 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
6T>C |
Asn2Asn |
M0012566 |
JEEELABD_00011 |
11076 |
5 |
Skin |
0.04 |
protein_coding |
stop_gained |
HIGH |
31C>T |
Gln11* |
M0012567 |
JEEELABD_00011 |
11080 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
35A>G |
Asn12Ser |
M0012568 |
JEEELABD_00011 |
11100 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
55T>C |
Tyr19His |
M0012569 |
JEEELABD_00011 |
11107 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
62A>T |
Asn21Ile |
M0012570 |
JEEELABD_00011 |
11127 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
82A>G |
Ile28Val |
M0012571 |
JEEELABD_00011 |
11172 |
12 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
127G>T |
Val43Leu |
M0012572 |
JEEELABD_00011 |
11285 |
16 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
240C>T |
Asp80Asp |
M0012573 |
JEEELABD_00011 |
11312 |
16 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
267T>C |
Gly89Gly |
M0012574 |
JEEELABD_00011 |
11333 |
16 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
288A>G |
Lys96Lys |
M0012575 |
JEEELABD_00011 |
11408 |
16 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
363T>A |
Thr121Thr |
M0012576 |
JEEELABD_00011 |
11422 |
16 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
377G>A |
Arg126Lys |
M0012577 |
JEEELABD_00011 |
11624 |
26 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
579T>C |
His193His |
M0012578 |
JEEELABD_00011 |
11636 |
25 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
591A>G |
Lys197Lys |
M0012579 |
JEEELABD_00011 |
11682 |
14 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
637G>A |
Glu213Lys |
M0012580 |
JEEELABD_00011 |
11687 |
28 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
642G>A |
Pro214Pro |
M0012581 |
JEEELABD_00011 |
11689 |
17 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
644G>A |
Gly215Glu |
M0012582 |
JEEELABD_00011 |
11691 |
17 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
646C>A |
Gln216Lys |
M0012583 |
JEEELABD_00011 |
11745 |
13 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
700A>C |
Asn234His |
M0012584 |
JEEELABD_00011 |
11758 |
16 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
713G>C |
Gly238Ala |
M0012585 |
JEEELABD_00011 |
11819 |
18 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
774A>T |
Ile258Ile |
M0012586 |
JEEELABD_00011 |
11822 |
17 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
777C>T |
Asn259Asn |
M0012587 |
JEEELABD_00011 |
11852 |
17 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
807A>G |
Glu269Glu |
M0012588 |
JEEELABD_00016 |
11869 |
13 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3899A>G |
None |
M0012589 |
JEEELABD_00016 |
11903 |
17 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3865T>C |
None |
M0012590 |
JEEELABD_00016 |
11947 |
16 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3821T>A |
None |
M0012591 |
JEEELABD_00012 |
11964 |
18 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1297A>G |
Asn433Asp |
M0012592 |
JEEELABD_00012 |
11991 |
18 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1270C>T |
Pro424Ser |
M0012593 |
JEEELABD_00012 |
12018 |
19 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1243T>G |
Ser415Ala |
M0012594 |
JEEELABD_00012 |
12124 |
18 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1137C>G |
His379Gln |
M0012595 |
JEEELABD_00012 |
12217 |
17 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1044A>G |
Pro348Pro |
M0012596 |
JEEELABD_00012 |
12238 |
17 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1023A>C |
Ala341Ala |
M0012597 |
JEEELABD_00012 |
12282 |
18 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
979G>A |
Glu327Lys |
M0012598 |
JEEELABD_00012 |
12286 |
18 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
975C>T |
Pro325Pro |
M0012599 |
JEEELABD_00012 |
12382 |
17 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
879G>A |
Lys293Lys |
M0012600 |
JEEELABD_00012 |
12481 |
16 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
780C>A |
His260Gln |
M0012601 |
JEEELABD_00012 |
12493 |
16 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
768A>T |
Ile256Ile |
M0012602 |
JEEELABD_00012 |
12535 |
15 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
726T>C |
Ile242Ile |
M0012603 |
JEEELABD_00012 |
12679 |
17 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
582G>A |
Gly194Gly |
M0012604 |
JEEELABD_00012 |
12777 |
17 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
484A>C |
Lys162Gln |
M0012605 |
JEEELABD_00012 |
12829 |
17 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
432G>A |
Pro144Pro |
M0012606 |
JEEELABD_00012 |
12883 |
17 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
378G>A |
Leu126Leu |
M0012607 |
JEEELABD_00012 |
12895 |
17 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
366A>G |
Val122Val |
M0012608 |
JEEELABD_00012 |
12994 |
17 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
267G>A |
Ser89Ser |
M0012609 |
JEEELABD_00012 |
13069 |
19 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
192G>A |
Ala64Ala |
M0012610 |
JEEELABD_00012 |
13087 |
19 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
174C>T |
Asp58Asp |
M0012611 |
JEEELABD_00012 |
13113 |
19 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
148T>C |
Phe50Leu |
M0012612 |
JEEELABD_00012 |
13114 |
19 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
147C>T |
Gly49Gly |
M0012613 |
JEEELABD_00012 |
13320 |
20 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-60C>T |
None |
M0012614 |
JEEELABD_00013 |
13367 |
22 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
708G>A |
Val236Val |
M0012615 |
JEEELABD_00013 |
13382 |
22 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
693C>T |
Asp231Asp |
M0012616 |
JEEELABD_00013 |
13400 |
22 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
675T>C |
Val225Val |
M0012617 |
JEEELABD_00013 |
13484 |
24 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
591T>C |
Val197Val |
M0012618 |
JEEELABD_00013 |
13538 |
33 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
537C>T |
Ile179Ile |
M0012619 |
JEEELABD_00013 |
13574 |
22 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
501C>T |
Thr167Thr |
M0012620 |
JEEELABD_00013 |
13583 |
22 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
492C>T |
Ile164Ile |
M0012621 |
JEEELABD_00013 |
13660 |
21 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
415A>G |
Ile139Val |
M0012622 |
JEEELABD_00013 |
13826 |
27 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
249C>T |
Ile83Ile |
M0012623 |
JEEELABD_00013 |
13829 |
27 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
246A>C |
Val82Val |
M0012624 |
JEEELABD_00012 |
14280 |
18 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1020G>C |
None |
M0012625 |
JEEELABD_00014 |
14504 |
31 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
588T>C |
Asp196Asp |
M0012626 |
JEEELABD_00014 |
14598 |
25 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
494G>A |
Arg165Lys |
M0012627 |
JEEELABD_00014 |
14639 |
27 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
453T>G |
Arg151Arg |
M0012628 |
JEEELABD_00014 |
14690 |
28 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
402A>G |
Leu134Leu |
M0012629 |
JEEELABD_00014 |
14723 |
27 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
369C>T |
Val123Val |
M0012630 |
JEEELABD_00014 |
14756 |
28 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
336T>C |
Tyr112Tyr |
M0012631 |
JEEELABD_00014 |
14789 |
28 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
303T>C |
His101His |
M0012632 |
JEEELABD_00014 |
14810 |
28 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
282A>G |
Val94Val |
M0012633 |
JEEELABD_00014 |
14816 |
28 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
276G>A |
Glu92Glu |
M0012634 |
JEEELABD_00014 |
14843 |
29 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
249T>A |
Gly83Gly |
M0012635 |
JEEELABD_00014 |
14846 |
29 |
Skin |
0.26 |
protein_coding |
synonymous_variant |
LOW |
246A>C |
Gly82Gly |
M0012636 |
JEEELABD_00014 |
15044 |
23 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
48T>C |
Gly16Gly |
M0012637 |
JEEELABD_00015 |
15171 |
33 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
576A>T |
Ser192Ser |
M0012638 |
JEEELABD_00015 |
15270 |
36 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
477T>A |
His159Gln |
M0012639 |
JEEELABD_00015 |
15306 |
38 |
Skin |
0.34 |
protein_coding |
synonymous_variant |
LOW |
441A>T |
Ser147Ser |
M0012640 |
JEEELABD_00015 |
15453 |
17 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
294T>C |
His98His |
M0012641 |
JEEELABD_00016 |
15868 |
33 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
101G>A |
Gly34Asp |
M0012642 |
JEEELABD_00016 |
15920 |
31 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
153C>T |
Thr51Thr |
M0012643 |
JEEELABD_00016 |
16019 |
34 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
252T>C |
Val84Val |
M0012644 |
JEEELABD_00016 |
16067 |
14 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
300T>C |
Tyr100Tyr |
M0012645 |
JEEELABD_00016 |
16085 |
34 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
318G>A |
Lys106Lys |
M0012646 |
JEEELABD_00016 |
16091 |
30 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
324T>A |
Gly108Gly |
M0012647 |
JEEELABD_00016 |
16097 |
34 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
330G>A |
Ser110Ser |
M0012648 |
JEEELABD_00016 |
16127 |
31 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
360C>G |
Pro120Pro |
M0012649 |
JEEELABD_00016 |
16147 |
43 |
Skin |
0.38 |
protein_coding |
missense_variant |
MODERATE |
380C>T |
Thr127Ile |
M0012650 |
JEEELABD_00012 |
16307 |
30 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3047A>G |
None |
M0012651 |
JEEELABD_00012 |
16332 |
57 |
Skin |
0.50 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3072G>A |
None |
M0012652 |
JEEELABD_00012 |
16342 |
37 |
Skin |
0.33 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3082A>G |
None |
M0012653 |
JEEELABD_00012 |
16361 |
35 |
Skin |
0.31 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3101A>G |
None |
M0012654 |
JEEELABD_00017 |
16582 |
36 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
141C>T |
Tyr47Tyr |
M0012655 |
JEEELABD_00017 |
16669 |
40 |
Skin |
0.35 |
protein_coding |
synonymous_variant |
LOW |
228C>T |
Asn76Asn |
M0012656 |
JEEELABD_00017 |
16684 |
40 |
Skin |
0.35 |
protein_coding |
synonymous_variant |
LOW |
243A>G |
Ser81Ser |
M0012657 |
JEEELABD_00017 |
16762 |
42 |
Skin |
0.37 |
protein_coding |
synonymous_variant |
LOW |
321T>C |
Asn107Asn |
M0012658 |
JEEELABD_00017 |
16848 |
28 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
407C>A |
Ala136Asp |
M0012659 |
JEEELABD_00017 |
17001 |
29 |
Skin |
0.26 |
protein_coding |
missense_variant |
MODERATE |
560A>C |
Glu187Ala |
M0012660 |
JEEELABD_00017 |
17032 |
39 |
Skin |
0.35 |
protein_coding |
synonymous_variant |
LOW |
591C>T |
Ser197Ser |
M0012661 |
JEEELABD_00017 |
17050 |
41 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
609C>T |
Asn203Asn |
M0012662 |
JEEELABD_00017 |
17113 |
42 |
Skin |
0.37 |
protein_coding |
synonymous_variant |
LOW |
672A>G |
Leu224Leu |
M0012663 |
JEEELABD_00017 |
17135 |
33 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
694G>A |
Val232Ile |
M0012664 |
JEEELABD_00018 |
17826 |
49 |
Skin |
0.43 |
protein_coding |
missense_variant |
MODERATE |
502T>G |
Ser168Ala |
M0012665 |
JEEELABD_00012 |
17965 |
33 |
Skin |
0.29 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4705C>T |
None |
M0012666 |
JEEELABD_00012 |
17987 |
30 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4727G>A |
None |
M0012667 |
JEEELABD_00012 |
18009 |
30 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4749A>C |
None |
M0012668 |
JEEELABD_00012 |
18013 |
30 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4753G>A |
None |
M0012669 |
JEEELABD_00012 |
18023 |
30 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4763C>T |
None |
M0012670 |
JEEELABD_00012 |
18024 |
30 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4764G>T |
None |
M0012671 |
JEEELABD_00012 |
18062 |
16 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4802T>C |
None |
M0012672 |
JEEELABD_00012 |
18081 |
16 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4821A>G |
None |
M0012673 |
JEEELABD_00012 |
18105 |
17 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4845A>G |
None |
M0012674 |
JEEELABD_00012 |
18131 |
13 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4871C>A |
None |
M0012675 |
JEEELABD_00012 |
18158 |
17 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4898A>G |
None |
M0012676 |
JEEELABD_00012 |
18160 |
17 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4900C>T |
None |
M0012677 |
JEEELABD_00012 |
18163 |
17 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4903G>A |
None |
M0012678 |
JEEELABD_00012 |
18194 |
17 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4934T>C |
None |
M0012679 |
JEEELABD_00012 |
18207 |
16 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4947T>C |
None |
M0012680 |
JEEELABD_00012 |
18230 |
17 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4970C>T |
None |
M0012681 |
JEEELABD_00012 |
18252 |
42 |
Skin |
0.37 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4992A>C |
None |
M0012682 |
JEEELABD_00013 |
18262 |
23 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4188T>G |
None |
M0012683 |
JEEELABD_00013 |
18286 |
15 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4212A>G |
None |
M0012684 |
JEEELABD_00013 |
18296 |
34 |
Skin |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4222T>A |
None |
M0012685 |
JEEELABD_00013 |
18431 |
44 |
Skin |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4357T>C |
None |
M0012686 |
JEEELABD_00013 |
18498 |
15 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4424A>T |
None |
M0012687 |
JEEELABD_00013 |
18510 |
33 |
Skin |
0.29 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4436A>C |
None |
M0012688 |
JEEELABD_00013 |
18652 |
22 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4578T>C |
None |
M0012689 |
JEEELABD_00013 |
18661 |
17 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4587C>G |
None |
M0012690 |
JEEELABD_00013 |
18662 |
33 |
Skin |
0.29 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4588A>G |
None |
M0012691 |
JEEELABD_00013 |
18671 |
17 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4597T>A |
None |
M0012692 |
JEEELABD_00013 |
18672 |
34 |
Skin |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4598T>G |
None |
M0012693 |
JEEELABD_00013 |
18677 |
17 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4603T>A |
None |
M0012694 |
JEEELABD_00013 |
18678 |
19 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4604C>T |
None |
M0012695 |
JEEELABD_00013 |
18685 |
17 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4611C>A |
None |
M0012696 |
JEEELABD_00013 |
18690 |
20 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4616C>G |
None |
M0012697 |
JEEELABD_00013 |
18738 |
45 |
Skin |
0.40 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4664A>T |
None |
M0012698 |
JEEELABD_00013 |
18758 |
26 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4684A>C |
None |
M0012699 |
JEEELABD_00013 |
18763 |
27 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4689G>T |
None |
M0012700 |
JEEELABD_00013 |
18772 |
26 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4698T>A |
None |
M0012701 |
JEEELABD_00013 |
18815 |
27 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4741A>C |
None |
M0012702 |
JEEELABD_00013 |
18839 |
25 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4765G>A |
None |
M0012703 |
JEEELABD_00013 |
18854 |
25 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4780T>A |
None |
M0012704 |
JEEELABD_00013 |
18859 |
28 |
Skin |
0.25 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4785T>G |
None |
M0012705 |
JEEELABD_00013 |
18883 |
26 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4809A>T |
None |
M0012706 |
JEEELABD_00013 |
18888 |
24 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4814C>T |
None |
M0012707 |
JEEELABD_00013 |
18893 |
23 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4819T>G |
None |
M0012708 |
JEEELABD_00013 |
18895 |
26 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4821T>C |
None |
M0012709 |
JEEELABD_00013 |
18944 |
26 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4870A>G |
None |
M0012710 |
JEEELABD_00013 |
18946 |
27 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4872C>T |
None |
M0012711 |
JEEELABD_00013 |
18985 |
39 |
Skin |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4911T>C |
None |
M0012712 |
JEEELABD_00013 |
19008 |
9 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4934G>A |
None |
M0012713 |
JEEELABD_00013 |
19014 |
32 |
Skin |
0.28 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4940C>T |
None |
M0012714 |
JEEELABD_00013 |
19021 |
39 |
Skin |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4947G>C |
None |
M0012715 |
JEEELABD_00014 |
19122 |
10 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4031G>A |
None |
M0012716 |
JEEELABD_00014 |
19125 |
10 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4034A>G |
None |
M0012717 |
JEEELABD_00014 |
19127 |
10 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4036C>G |
None |
M0012718 |
JEEELABD_00014 |
19130 |
10 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4039A>G |
None |
M0012719 |
JEEELABD_00014 |
19133 |
30 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4042T>C |
None |
M0012720 |
JEEELABD_00014 |
19157 |
9 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4066C>T |
None |
M0012721 |
JEEELABD_00014 |
19160 |
27 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4069C>T |
None |
M0012722 |
JEEELABD_00014 |
19181 |
35 |
Skin |
0.31 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4090G>A |
None |
M0012723 |
JEEELABD_00014 |
19235 |
28 |
Skin |
0.25 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4144T>A |
None |
M0012724 |
JEEELABD_00014 |
19239 |
35 |
Skin |
0.31 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4148C>T |
None |
M0012725 |
JEEELABD_00014 |
19329 |
27 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4238C>T |
None |
M0012726 |
JEEELABD_00014 |
19370 |
27 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4279G>A |
None |
M0012727 |
JEEELABD_00014 |
19374 |
27 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4283T>C |
None |
M0012728 |
JEEELABD_00014 |
19433 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4342G>A |
None |
M0012729 |
JEEELABD_00014 |
19434 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4343T>C |
None |
M0012730 |
JEEELABD_00014 |
19435 |
29 |
Skin |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4344T>G |
None |
M0012731 |
JEEELABD_00014 |
19448 |
31 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4357G>A |
None |
M0012732 |
JEEELABD_00014 |
19454 |
31 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4363A>G |
None |
M0012733 |
JEEELABD_00014 |
19478 |
29 |
Skin |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4387C>T |
None |
M0012734 |
JEEELABD_00014 |
19511 |
29 |
Skin |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4420C>T |
None |
M0012735 |
JEEELABD_00014 |
19547 |
34 |
Skin |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4456A>G |
None |
M0012736 |
JEEELABD_00014 |
19571 |
33 |
Skin |
0.29 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4480T>C |
None |
M0012737 |
JEEELABD_00014 |
19618 |
32 |
Skin |
0.28 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4527C>T |
None |
M0012738 |
JEEELABD_00014 |
19658 |
20 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4567A>G |
None |
M0012739 |
JEEELABD_00014 |
19679 |
20 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4588A>G |
None |
M0012740 |
JEEELABD_00014 |
19730 |
32 |
Skin |
0.28 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4639C>T |
None |
M0012741 |
JEEELABD_00014 |
19760 |
16 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4669A>G |
None |
M0012742 |
JEEELABD_00014 |
19781 |
28 |
Skin |
0.25 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4690T>G |
None |
M0012743 |
JEEELABD_00014 |
19790 |
33 |
Skin |
0.29 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4699G>A |
None |
M0012744 |
JEEELABD_00014 |
19796 |
28 |
Skin |
0.25 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4705T>G |
None |
M0012745 |
JEEELABD_00014 |
19916 |
29 |
Skin |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4825A>G |
None |
M0012746 |
JEEELABD_00014 |
19991 |
25 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4900A>G |
None |
M0012747 |
JEEELABD_00014 |
20003 |
39 |
Skin |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4912A>C |
None |
M0012748 |
JEEELABD_00014 |
20027 |
28 |
Skin |
0.25 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4936C>T |
None |
M0012749 |
JEEELABD_00015 |
20104 |
8 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4358C>T |
None |
M0012750 |
JEEELABD_00015 |
20282 |
24 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4536A>C |
None |
M0012751 |
JEEELABD_00015 |
20303 |
24 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4557T>C |
None |
M0012752 |
JEEELABD_00015 |
20306 |
22 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4560C>T |
None |
M0012753 |
JEEELABD_00015 |
20345 |
26 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4599A>C |
None |
M0012754 |
JEEELABD_00015 |
20386 |
7 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4640G>A |
None |
M0012755 |
JEEELABD_00015 |
20405 |
24 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4659A>G |
None |
M0012756 |
JEEELABD_00015 |
20447 |
23 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4701C>A |
None |
M0012757 |
JEEELABD_00015 |
20456 |
23 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4710A>G |
None |
M0012758 |
JEEELABD_00015 |
20480 |
24 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4734G>A |
None |
M0012759 |
JEEELABD_00015 |
20558 |
26 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4812A>T |
None |
M0012760 |
JEEELABD_00015 |
20603 |
28 |
Skin |
0.25 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4857A>T |
None |
M0012761 |
JEEELABD_00015 |
20609 |
28 |
Skin |
0.25 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4863G>A |
None |
M0012762 |
JEEELABD_00016 |
20747 |
39 |
Skin |
0.35 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4473T>C |
None |
M0012763 |
JEEELABD_00016 |
20807 |
5 |
Skin |
0.04 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4533A>C |
None |
M0012764 |
JEEELABD_00016 |
20810 |
5 |
Skin |
0.04 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4536G>A |
None |
M0012765 |
JEEELABD_00016 |
20816 |
5 |
Skin |
0.04 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4542C>A |
None |
M0012766 |
JEEELABD_00016 |
20831 |
5 |
Skin |
0.04 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4557C>T |
None |
M0012767 |
JEEELABD_00014 |
14488 |
17 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
604C>T |
Pro202Ser |
M0012768 |
JEEELABD_00017 |
16717 |
18 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
276G>T |
Thr92Thr |
M0012769 |
JEEELABD_00017 |
17069 |
13 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
628G>A |
Asp210Asn |
M0012770 |
JEEELABD_00013 |
18925 |
12 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4851T>A |
None |
M0012771 |
JEEELABD_00013 |
18945 |
13 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4871C>T |
None |
M0012772 |
JEEELABD_00013 |
18977 |
13 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4903A>G |
None |
M0012773 |
JEEELABD_00013 |
18997 |
13 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4923G>A |
None |
M0012774 |
JEEELABD_00013 |
19007 |
13 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4933C>T |
None |
M0012775 |
JEEELABD_00014 |
19093 |
10 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4002G>A |
None |
M0012776 |
JEEELABD_00014 |
19100 |
17 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4009T>C |
None |
M0012777 |
JEEELABD_00014 |
19129 |
16 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4038A>C |
None |
M0012778 |
JEEELABD_00014 |
19496 |
30 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4405T>C |
None |
M0012779 |
JEEELABD_00014 |
19550 |
24 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4459G>A |
None |
M0012780 |
JEEELABD_00015 |
15573 |
22 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
174T>C |
Ser58Ser |
M0012781 |
JEEELABD_00015 |
15735 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
12C>T |
Tyr4Tyr |
M0012782 |
JEEELABD_00017 |
16522 |
21 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
81G>T |
Ala27Ala |
M0012783 |
JEEELABD_00017 |
16906 |
20 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
465T>A |
Asp155Glu |
M0012784 |
JEEELABD_00018 |
17449 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
125A>T |
Lys42Ile |
M0012785 |
JEEELABD_00012 |
17936 |
18 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4676C>A |
None |
M0012786 |
JEEELABD_00012 |
18225 |
17 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4965T>C |
None |
M0012787 |
JEEELABD_00013 |
18324 |
17 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4250A>T |
None |
M0012788 |
JEEELABD_00013 |
18488 |
21 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4414A>G |
None |
M0012789 |
JEEELABD_00013 |
18545 |
10 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4471A>G |
None |
M0012790 |
JEEELABD_00013 |
18548 |
19 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4474A>G |
None |
M0012791 |
JEEELABD_00013 |
18573 |
23 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4499C>T |
None |
M0012792 |
JEEELABD_00013 |
18584 |
9 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4510T>C |
None |
M0012793 |
JEEELABD_00013 |
18587 |
20 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4513A>G |
None |
M0012794 |
JEEELABD_00013 |
18609 |
23 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4535A>T |
None |
M0012795 |
JEEELABD_00013 |
18611 |
17 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4537A>G |
None |
M0012796 |
JEEELABD_00013 |
18614 |
9 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4540A>G |
None |
M0012797 |
JEEELABD_00013 |
18631 |
12 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4557T>A |
None |
M0012798 |
JEEELABD_00013 |
18654 |
10 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4580T>A |
None |
M0012799 |
JEEELABD_00013 |
18783 |
10 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4709G>A |
None |
M0012800 |
JEEELABD_00010 |
9164 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
56T>A |
Phe19Tyr |
M0012801 |
JEEELABD_00010 |
9237 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
129A>G |
Leu43Leu |
M0012802 |
JEEELABD_00010 |
9251 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
143A>G |
His48Arg |
M0012803 |
JEEELABD_00011 |
10816 |
6 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-230T>G |
None |
M0012804 |
JEEELABD_00011 |
10845 |
6 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-201G>A |
None |
M0012805 |
JEEELABD_00011 |
10881 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-165G>A |
None |
M0012806 |
JEEELABD_00011 |
10889 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-157T>A |
None |
M0012807 |
JEEELABD_00011 |
10892 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-154A>T |
None |
M0012808 |
JEEELABD_00011 |
10903 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-143A>C |
None |
M0012809 |
JEEELABD_00011 |
10905 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-141T>A |
None |
M0012810 |
JEEELABD_00011 |
10937 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-109A>G |
None |
M0012811 |
JEEELABD_00011 |
10945 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-101T>C |
None |
M0012812 |
JEEELABD_00012 |
12051 |
6 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1210G>T |
Val404Leu |
M0012813 |
JEEELABD_00012 |
12284 |
7 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
977T>C |
Val326Ala |
M0012814 |
JEEELABD_00012 |
14078 |
12 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-818G>A |
None |
M0012815 |
JEEELABD_00015 |
15549 |
13 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
198A>G |
Lys66Lys |
M0012816 |
JEEELABD_00017 |
17215 |
36 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
774T>C |
Asp258Asp |
M0012817 |
JEEELABD_00013 |
18864 |
15 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4790C>T |
None |
M0012818 |
JEEELABD_00014 |
19430 |
25 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4339A>G |
None |
M0012819 |
JEEELABD_00013 |
18617 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4543A>T |
None |
M0012820 |
JEEELABD_00013 |
18844 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4770G>A |
None |
M0012821 |
JEEELABD_00013 |
18929 |
12 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4855C>T |
None |
M0012822 |
JEEELABD_00014 |
19296 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4205C>T |
None |
M0012823 |
JEEELABD_00014 |
19487 |
7 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4396A>G |
None |
M0012824 |
JEEELABD_00014 |
19560 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4469C>A |
None |
M0012825 |
JEEELABD_00014 |
19863 |
7 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4772C>T |
None |
M0012826 |
JEEELABD_00015 |
20180 |
8 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4434A>G |
None |
M0012827 |
JEEELABD_00015 |
20549 |
6 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4803G>T |
None |
M0012828 |
JEEELABD_00016 |
20804 |
6 |
Skin |
0.05 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4530C>T |
None |
M0012829 |
JEEELABD_00013 |
18931 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4857C>A |
None |
M0012830 |
JEEELABD_00014 |
19835 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4744T>A |
None |
M0012831 |
JEEELABD_00014 |
19877 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4786G>A |
None |
M0012832 |
JEEELABD_00014 |
19973 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4882T>C |
None |
M0012833 |
JEEELABD_00015 |
20550 |
6 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4804A>G |
None |
M0012834 |
JEEELABD_00016 |
20789 |
9 |
Skin |
0.08 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4515C>T |
None |
M0012835 |
JEEELABD_00013 |
13655 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
420T>C |
Ser140Ser |
M0012836 |
JEEELABD_00013 |
13912 |
6 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
163A>C |
Ile55Leu |
M0012837 |
JEEELABD_00014 |
14525 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
567T>C |
Asn189Asn |
M0012838 |
JEEELABD_00014 |
14660 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
432A>G |
Val144Val |
M0012839 |
JEEELABD_00015 |
15639 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
108C>T |
His36His |
M0012840 |
JEEELABD_00016 |
15813 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
46C>T |
His16Tyr |
M0012841 |
JEEELABD_00016 |
16055 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
288A>C |
Pro96Pro |
M0012842 |
JEEELABD_00017 |
16674 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
233T>C |
Met78Thr |
M0012843 |
JEEELABD_00017 |
16988 |
6 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
547C>A |
Gln183Lys |
M0012844 |
JEEELABD_00017 |
16993 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
552A>G |
Val184Val |
M0012845 |
JEEELABD_00017 |
17120 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
679G>A |
Asp227Asn |
M0012846 |
JEEELABD_00017 |
17167 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
726A>G |
Ser242Ser |
M0012847 |
JEEELABD_00017 |
17179 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
738T>A |
Arg246Arg |
M0012848 |
JEEELABD_00017 |
17248 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
807C>A |
Asp269Glu |
M0012849 |
JEEELABD_00017 |
17254 |
11 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
813T>C |
Asn271Asn |
M0012850 |
JEEELABD_00018 |
17408 |
17 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
84C>T |
Gly28Gly |
M0012851 |
JEEELABD_00018 |
17414 |
17 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
90T>C |
His30His |
M0012852 |
JEEELABD_00018 |
17825 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
501T>C |
Arg167Arg |
M0012853 |
JEEELABD_00018 |
17837 |
21 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
513T>C |
Phe171Phe |
M0012854 |
JEEELABD_00018 |
17855 |
11 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
531C>T |
Ser177Ser |
M0012855 |
JEEELABD_00012 |
18127 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4867T>C |
None |
M0012856 |
JEEELABD_00013 |
18330 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4256C>T |
None |
M0012857 |
JEEELABD_00011 |
11828 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
783A>C |
Ala261Ala |
M0012858 |
JEEELABD_00013 |
13652 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
423T>C |
Ile141Ile |
M0012859 |
JEEELABD_00015 |
15393 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
354C>T |
Phe118Phe |
M0012860 |
JEEELABD_00015 |
15483 |
11 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
264G>A |
Ser88Ser |
M0012861 |
JEEELABD_00016 |
15821 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
54C>T |
Ala18Ala |
M0012862 |
JEEELABD_00018 |
17858 |
10 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
534C>T |
Phe178Phe |
M0012863 |
JEEELABD_00013 |
18289 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4215A>T |
None |
M0012864 |
JEEELABD_00013 |
18290 |
7 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4216A>T |
None |
M0012865 |
JEEELABD_00014 |
19259 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4168A>G |
None |
M0012866 |
JEEELABD_00014 |
19309 |
6 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4218G>T |
None |
M0012867 |
JEEELABD_00013 |
18560 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4486A>G |
None |
M0012868 |
JEEELABD_00013 |
18564 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4490C>T |
None |
M0012869 |
JEEELABD_00013 |
18595 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4521T>C |
None |
M0012870 |
JEEELABD_00013 |
18618 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4544T>C |
None |
M0012871 |
JEEELABD_00010 |
10197 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1089T>C |
Val363Val |
M0012872 |
JEEELABD_00011 |
11124 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
79T>G |
Tyr27Asp |
M0012873 |
JEEELABD_00011 |
11744 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
699T>A |
Ala233Ala |
M0012874 |
JEEELABD_00017 |
17038 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
597A>G |
Ser199Ser |
M0012875 |
JEEELABD_00012 |
12920 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
341T>A |
Leu114Gln |
M0012876 |
JEEELABD_00016 |
20981 |
3 |
Skin |
0.03 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4707T>C |
None |
M0012877 |
JEEELABD_00017 |
16987 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
546C>T |
Asp182Asp |
M0012878 |
JEEELABD_00012 |
12265 |
9 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
996G>A |
Pro332Pro |
M0012879 |
JEEELABD_00012 |
13080 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
181G>T |
Ala61Ser |
M0012880 |
JEEELABD_00016 |
16179 |
7 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
412G>T |
Ala138Ser |
M0012881 |
JEEELABD_00016 |
16222 |
10 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
455A>G |
Lys152Arg |
M0012882 |
JEEELABD_00011 |
11762 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
717C>T |
Ile239Ile |
M0012883 |
JEEELABD_00013 |
13894 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
181G>A |
Asp61Asn |
M0012884 |
JEEELABD_00013 |
13964 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
111G>A |
Lys37Lys |
M0012885 |
JEEELABD_00015 |
15534 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
213T>C |
Thr71Thr |
M0012886 |
JEEELABD_00012 |
15765 |
7 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2505G>A |
None |
M0012887 |
JEEELABD_00016 |
15806 |
9 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
39T>A |
Asn13Lys |
M0012888 |
JEEELABD_00016 |
15968 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
201C>T |
Gly67Gly |
M0012889 |
JEEELABD_00016 |
16192 |
6 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
425G>A |
Arg142Lys |
M0012890 |
JEEELABD_00017 |
16885 |
9 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
444C>T |
Asn148Asn |
M0012891 |
JEEELABD_00017 |
17251 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
810C>T |
Thr270Thr |
M0012892 |
JEEELABD_00012 |
17981 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4721T>C |
None |
M0012893 |
JEEELABD_00012 |
18007 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4747T>G |
None |
M0012894 |
JEEELABD_00013 |
18958 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4884T>G |
None |
M0012895 |
JEEELABD_00014 |
19633 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4542C>T |
None |
M0012896 |
JEEELABD_00007 |
6206 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
201G>A |
Gln67Gln |
M0012897 |
JEEELABD_00008 |
8005 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
654T>A |
Ile218Ile |
M0012898 |
JEEELABD_00013 |
13664 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
411C>T |
Cys137Cys |
M0012899 |
JEEELABD_00013 |
13961 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
114T>C |
Asp38Asp |
M0012900 |
JEEELABD_00014 |
14794 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
298A>G |
Met100Val |
M0012901 |
JEEELABD_00015 |
15094 |
11 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
653A>G |
Lys218Arg |
M0012902 |
JEEELABD_00012 |
18226 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4966T>G |
None |
M0012903 |
JEEELABD_00012 |
12563 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
698A>G |
Asp233Gly |
M0012904 |
JEEELABD_00012 |
18110 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4850C>T |
None |
M0012905 |
JEEELABD_00012 |
18047 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4787G>A |
None |
M0012906 |
JEEELABD_00012 |
18077 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4817C>A |
None |
M0012907 |
JEEELABD_00012 |
18240 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4980A>G |
None |
M0012908 |
JEEELABD_00013 |
18281 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4207T>C |
None |
M0012909 |
JEEELABD_00014 |
19490 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4399A>G |
None |
M0012910 |
JEEELABD_00009 |
8346 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
286T>C |
Ser96Pro |
M0012911 |
JEEELABD_00010 |
9353 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
245A>G |
Gln82Arg |
M0012912 |
JEEELABD_00010 |
9390 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
282T>G |
Phe94Leu |
M0012913 |
JEEELABD_00010 |
9649 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
541G>A |
Ala181Thr |
M0012914 |
JEEELABD_00010 |
9656 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
548G>A |
Arg183Lys |
M0012915 |
JEEELABD_00012 |
14075 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-815G>A |
None |
M0012916 |
JEEELABD_00018 |
17465 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
141G>A |
Leu47Leu |
M0012917 |
JEEELABD_00012 |
18089 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4829A>C |
None |
M0012918 |
JEEELABD_00015 |
20336 |
7 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4590G>A |
None |
M0012919 |
JEEELABD_00002 |
5649 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3878A>C |
None |
M0012920 |
JEEELABD_00002 |
5690 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3919T>G |
None |
M0012921 |
JEEELABD_00002 |
5710 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3939C>T |
None |
M0012922 |
JEEELABD_00002 |
5719 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3948C>T |
None |
M0012923 |
JEEELABD_00002 |
5726 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3955A>C |
None |
M0012924 |
JEEELABD_00002 |
5732 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3961C>T |
None |
M0012925 |
JEEELABD_00002 |
5736 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3965T>C |
None |
M0012926 |
JEEELABD_00008 |
7803 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
452C>G |
Ala151Gly |
M0012927 |
JEEELABD_00008 |
7822 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
471T>C |
Ile157Ile |
M0012928 |
JEEELABD_00010 |
9535 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
427G>C |
Val143Leu |
M0012929 |
JEEELABD_00013 |
13379 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
696A>C |
Glu232Asp |
M0012930 |
JEEELABD_00014 |
15050 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
42T>A |
Ile14Ile |
M0012931 |
JEEELABD_00017 |
16903 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
462A>T |
Val154Val |
M0012932 |
JEEELABD_00006 |
4728 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
136A>G |
Asn46Asp |
M0012933 |
JEEELABD_00006 |
4927 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
335A>T |
Tyr112Phe |
M0012934 |
JEEELABD_00006 |
5078 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
486A>G |
Val162Val |
M0012935 |
JEEELABD_00006 |
5140 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
548T>C |
Ile183Thr |
M0012936 |
JEEELABD_00006 |
5144 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
552A>G |
Thr184Thr |
M0012937 |
JEEELABD_00006 |
5179 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
587G>A |
Arg196Lys |
M0012938 |
JEEELABD_00006 |
5198 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
606T>C |
Ser202Ser |
M0012939 |
JEEELABD_00006 |
5243 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
651T>C |
Asp217Asp |
M0012940 |
JEEELABD_00006 |
5321 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
729G>A |
Ala243Ala |
M0012941 |
JEEELABD_00006 |
5378 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
786C>T |
Phe262Phe |
M0012942 |
JEEELABD_00006 |
5387 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
795T>C |
Asp265Asp |
M0012943 |
JEEELABD_00006 |
5457 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
865C>G |
Gln289Glu |
M0012944 |
JEEELABD_00006 |
5462 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
870A>T |
Glu290Asp |
M0012945 |
JEEELABD_00002 |
5900 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4129T>C |
None |
M0012946 |
JEEELABD_00002 |
5902 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4131A>C |
None |
M0012947 |
JEEELABD_00007 |
6018 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
13G>A |
Val5Ile |
M0012948 |
JEEELABD_00007 |
6053 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
48A>G |
Lys16Lys |
M0012949 |
JEEELABD_00007 |
6071 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
66A>G |
Leu22Leu |
M0012950 |
JEEELABD_00007 |
6102 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
97T>C |
Leu33Leu |
M0012951 |
JEEELABD_00007 |
6203 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
198T>G |
Gly66Gly |
M0012952 |
JEEELABD_00008 |
7750 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
399T>C |
Gly133Gly |
M0012953 |
JEEELABD_00008 |
7818 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
467G>A |
Gly156Glu |
M0012954 |
JEEELABD_00016 |
11874 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3894T>A |
None |
M0012955 |
JEEELABD_00016 |
16034 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
267T>A |
Thr89Thr |
M0012956 |
JEEELABD_00002 |
4439 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2668A>G |
None |
M0012957 |
JEEELABD_00002 |
4462 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2691A>G |
None |
M0012958 |
JEEELABD_00002 |
4486 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2715T>C |
None |
M0012959 |
JEEELABD_00007 |
6230 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
225C>T |
Ala75Ala |
M0012960 |
JEEELABD_00008 |
7980 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
629A>G |
Lys210Arg |
M0012961 |
JEEELABD_00015 |
15682 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
65C>T |
Ala22Val |
M0012962 |
JEEELABD_00010 |
9846 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
738T>C |
Ser246Ser |
M0012963 |
JEEELABD_00010 |
9857 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
749C>G |
Pro250Arg |
M0012964 |
JEEELABD_00017 |
17211 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
770C>T |
Thr257Ile |
M0012965 |
JEEELABD_00014 |
15078 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
14G>C |
Gly5Ala |
M0012966 |
JEEELABD_00017 |
16996 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
555T>G |
Gly185Gly |
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 |