Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C812 |
Reference Plasmid |
NZ_CP066375.1 |
Reference Plasmid Size |
51568 |
Reference Plasmid GC Content |
0.28 |
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 |
M0102616 |
LMBIILJN_00007 |
11290 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4502C>A |
None |
M0102617 |
LMBIILJN_00007 |
11337 |
13 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4549A>G |
None |
M0102618 |
LMBIILJN_00007 |
11608 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4820T>C |
None |
M0102619 |
LMBIILJN_00007 |
11695 |
8 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4907T>C |
None |
M0102620 |
LMBIILJN_00014 |
11817 |
10 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-235A>G |
None |
M0102621 |
LMBIILJN_00014 |
11851 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-269T>C |
None |
M0102622 |
LMBIILJN_00015 |
12180 |
11 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
125G>A |
Gly42Glu |
M0102623 |
LMBIILJN_00014 |
12352 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-770G>A |
None |
M0102624 |
LMBIILJN_00014 |
12410 |
12 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-828G>A |
None |
M0102625 |
LMBIILJN_00016 |
12759 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
655G>A |
Gly219Ser |
M0102626 |
LMBIILJN_00001 |
371 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
137A>G |
His46Arg |
M0102627 |
LMBIILJN_00001 |
602 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
368A>C |
Gln123Pro |
M0102628 |
LMBIILJN_00001 |
606 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
372G>A |
Leu124Leu |
M0102629 |
LMBIILJN_00002 |
2058 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
8A>C |
Tyr3Ser |
M0102630 |
LMBIILJN_00003 |
2321 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
901A>C |
Met301Leu |
M0102631 |
LMBIILJN_00003 |
2474 |
11 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
748A>G |
Ile250Val |
M0102632 |
LMBIILJN_00003 |
2982 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
240C>T |
Ile80Ile |
M0102633 |
LMBIILJN_00005 |
4243 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
800C>T |
Thr267Ile |
M0102634 |
LMBIILJN_00005 |
4245 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
798G>A |
Pro266Pro |
M0102635 |
LMBIILJN_00005 |
4248 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
795C>T |
Phe265Phe |
M0102636 |
LMBIILJN_00005 |
4277 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
766T>C |
Leu256Leu |
M0102637 |
LMBIILJN_00005 |
4314 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
729C>T |
Ile243Ile |
M0102638 |
LMBIILJN_00005 |
4335 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
708A>G |
Ser236Ser |
M0102639 |
LMBIILJN_00005 |
4339 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
704G>A |
Gly235Asp |
M0102640 |
LMBIILJN_00005 |
4343 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
700C>T |
His234Tyr |
M0102641 |
LMBIILJN_00005 |
4347 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
696G>A |
Lys232Lys |
M0102642 |
LMBIILJN_00005 |
4350 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
693A>G |
Ser231Ser |
M0102643 |
LMBIILJN_00005 |
4354 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
689A>G |
Asn230Ser |
M0102644 |
LMBIILJN_00005 |
4364 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
679A>C |
Asn227His |
M0102645 |
LMBIILJN_00005 |
4368 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
675A>G |
Ala225Ala |
M0102646 |
LMBIILJN_00005 |
4384 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
659T>A |
Ile220Asn |
M0102647 |
LMBIILJN_00005 |
4395 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
648G>A |
Thr216Thr |
M0102648 |
LMBIILJN_00005 |
4397 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
646A>T |
Thr216Ser |
M0102649 |
LMBIILJN_00005 |
4440 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
603T>C |
Asp201Asp |
M0102650 |
LMBIILJN_00005 |
4452 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
591A>G |
Lys197Lys |
M0102651 |
LMBIILJN_00005 |
4461 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
582C>T |
Arg194Arg |
M0102652 |
LMBIILJN_00005 |
4470 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
573A>G |
Val191Val |
M0102653 |
LMBIILJN_00005 |
4473 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
570A>T |
Ala190Ala |
M0102654 |
LMBIILJN_00005 |
4512 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
531C>T |
Ser177Ser |
M0102655 |
LMBIILJN_00005 |
4515 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
528A>T |
Ser176Ser |
M0102656 |
LMBIILJN_00005 |
4523 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
520T>C |
Leu174Leu |
M0102657 |
LMBIILJN_00005 |
4528 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
515A>G |
Lys172Arg |
M0102658 |
LMBIILJN_00005 |
4533 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
510C>T |
Asn170Asn |
M0102659 |
LMBIILJN_00002 |
7064 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4999T>G |
None |
M0102660 |
LMBIILJN_00008 |
7148 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
62G>A |
Ser21Asn |
M0102661 |
LMBIILJN_00009 |
7242 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
9T>G |
Ile3Met |
M0102662 |
LMBIILJN_00011 |
8617 |
16 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
274C>T |
Leu92Leu |
M0102663 |
LMBIILJN_00017 |
13567 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
242T>C |
Val81Ala |
M0102664 |
LMBIILJN_00018 |
14000 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
74G>A |
Ser25Asn |
M0102665 |
LMBIILJN_00014 |
14257 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2675T>C |
None |
M0102666 |
LMBIILJN_00014 |
14265 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2683C>T |
None |
M0102667 |
LMBIILJN_00014 |
14281 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2699T>C |
None |
M0102668 |
LMBIILJN_00014 |
14296 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2714C>T |
None |
M0102669 |
LMBIILJN_00014 |
14400 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2818G>A |
None |
M0102670 |
LMBIILJN_00014 |
14417 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2835A>G |
None |
M0102671 |
LMBIILJN_00014 |
14459 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2877T>A |
None |
M0102672 |
LMBIILJN_00014 |
14893 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3311C>A |
None |
M0102673 |
LMBIILJN_00067 |
51126 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
68T>G |
Met23Arg |
M0102674 |
LMBIILJN_00068 |
51149 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
160A>G |
Thr54Ala |
M0102675 |
LMBIILJN_00068 |
51158 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
151A>G |
Ile51Val |
M0102676 |
LMBIILJN_00008 |
7180 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
94G>A |
Val32Ile |
M0102677 |
LMBIILJN_00003 |
7210 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3989T>A |
None |
M0102678 |
LMBIILJN_00009 |
7276 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
43G>A |
Val15Ile |
M0102679 |
LMBIILJN_00009 |
7284 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
51G>T |
Thr17Thr |
M0102680 |
LMBIILJN_00009 |
7294 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
61G>A |
Val21Ile |
M0102681 |
LMBIILJN_00009 |
7301 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
68T>C |
Met23Thr |
M0102682 |
LMBIILJN_00009 |
7432 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
199G>T |
Asp67Tyr |
M0102683 |
LMBIILJN_00010 |
8049 |
8 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
403A>G |
Ile135Val |
M0102684 |
LMBIILJN_00010 |
8075 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
429A>G |
Leu143Leu |
M0102685 |
LMBIILJN_00010 |
8146 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
500G>A |
Ser167Asn |
M0102686 |
LMBIILJN_00010 |
8156 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
510A>G |
Lys170Lys |
M0102687 |
LMBIILJN_00010 |
8258 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
612G>T |
Val204Val |
M0102688 |
LMBIILJN_00011 |
8423 |
14 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
80G>C |
Gly27Ala |
M0102689 |
LMBIILJN_00011 |
8514 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
171G>A |
Thr57Thr |
M0102690 |
LMBIILJN_00011 |
8556 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
213A>G |
Glu71Glu |
M0102691 |
LMBIILJN_00011 |
8571 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
228G>T |
Thr76Thr |
M0102692 |
LMBIILJN_00011 |
8610 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
267C>T |
Asn89Asn |
M0102693 |
LMBIILJN_00011 |
8691 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
348G>A |
Leu116Leu |
M0102694 |
LMBIILJN_00011 |
8772 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
429T>A |
Gly143Gly |
M0102695 |
LMBIILJN_00011 |
8775 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
432T>G |
Thr144Thr |
M0102696 |
LMBIILJN_00011 |
8776 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
433C>T |
Leu145Leu |
M0102697 |
LMBIILJN_00011 |
8794 |
12 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
451G>A |
Ala151Thr |
M0102698 |
LMBIILJN_00011 |
8800 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
457T>C |
Leu153Leu |
M0102699 |
LMBIILJN_00011 |
8805 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
462A>G |
Val154Val |
M0102700 |
LMBIILJN_00011 |
8806 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
463C>T |
Leu155Leu |
M0102701 |
LMBIILJN_00011 |
8808 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
465A>G |
Leu155Leu |
M0102702 |
LMBIILJN_00011 |
8820 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
477A>G |
Leu159Leu |
M0102703 |
LMBIILJN_00011 |
8868 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
525T>C |
Gly175Gly |
M0102704 |
LMBIILJN_00011 |
8883 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
540G>A |
Leu180Leu |
M0102705 |
LMBIILJN_00011 |
8915 |
11 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
572T>G |
Met191Arg |
M0102706 |
LMBIILJN_00011 |
8919 |
11 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
576T>C |
Ala192Ala |
M0102707 |
LMBIILJN_00011 |
9012 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
669G>A |
Lys223Lys |
M0102708 |
LMBIILJN_00011 |
9055 |
12 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
712G>A |
Val238Ile |
M0102709 |
LMBIILJN_00004 |
9112 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4937C>T |
None |
M0102710 |
LMBIILJN_00004 |
9120 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4945A>G |
None |
M0102711 |
LMBIILJN_00004 |
9154 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4979T>C |
None |
M0102712 |
LMBIILJN_00004 |
9170 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4995A>G |
None |
M0102713 |
LMBIILJN_00005 |
9198 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4156C>T |
None |
M0102714 |
LMBIILJN_00005 |
9203 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4161A>T |
None |
M0102715 |
LMBIILJN_00005 |
9231 |
12 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4189G>A |
None |
M0102716 |
LMBIILJN_00005 |
9239 |
12 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4197G>A |
None |
M0102717 |
LMBIILJN_00005 |
9250 |
11 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4208C>T |
None |
M0102718 |
LMBIILJN_00005 |
9281 |
12 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4239T>C |
None |
M0102719 |
LMBIILJN_00005 |
9293 |
12 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4251G>T |
None |
M0102720 |
LMBIILJN_00005 |
9332 |
11 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4290C>T |
None |
M0102721 |
LMBIILJN_00005 |
9361 |
11 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4319C>T |
None |
M0102722 |
LMBIILJN_00005 |
9369 |
11 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4327A>G |
None |
M0102723 |
LMBIILJN_00005 |
9371 |
11 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4329G>A |
None |
M0102724 |
LMBIILJN_00005 |
9372 |
11 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4330A>G |
None |
M0102725 |
LMBIILJN_00005 |
9373 |
11 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4331G>A |
None |
M0102726 |
LMBIILJN_00005 |
9374 |
11 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4332T>G |
None |
M0102727 |
LMBIILJN_00005 |
9377 |
11 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4335T>A |
None |
M0102728 |
LMBIILJN_00005 |
9401 |
12 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4359C>T |
None |
M0102729 |
LMBIILJN_00005 |
9458 |
10 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4416C>T |
None |
M0102730 |
LMBIILJN_00012 |
9636 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
168C>T |
Gly56Gly |
M0102731 |
LMBIILJN_00012 |
9651 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
183G>A |
Lys61Lys |
M0102732 |
LMBIILJN_00012 |
9692 |
14 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
224A>G |
Asn75Ser |
M0102733 |
LMBIILJN_00012 |
9705 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
237C>T |
Pro79Pro |
M0102734 |
LMBIILJN_00012 |
9706 |
14 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
238T>C |
Ser80Pro |
M0102735 |
LMBIILJN_00012 |
9708 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
240T>A |
Ser80Ser |
M0102736 |
LMBIILJN_00012 |
9745 |
11 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
277A>G |
Lys93Glu |
M0102737 |
LMBIILJN_00012 |
9763 |
14 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
295A>G |
Ile99Val |
M0102738 |
LMBIILJN_00012 |
9839 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
371A>G |
His124Arg |
M0102739 |
LMBIILJN_00013 |
10423 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
472A>G |
Thr158Ala |
M0102740 |
LMBIILJN_00013 |
10856 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
905T>A |
Phe302Tyr |
M0102741 |
LMBIILJN_00013 |
10863 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
912G>A |
Lys304Lys |
M0102742 |
LMBIILJN_00013 |
10917 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
966T>C |
Asn322Asn |
M0102743 |
LMBIILJN_00006 |
10956 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4721G>A |
None |
M0102744 |
LMBIILJN_00006 |
11023 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4788T>C |
None |
M0102745 |
LMBIILJN_00057 |
44527 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4168C>T |
None |
M0102746 |
LMBIILJN_00057 |
45252 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4893C>T |
None |
M0102747 |
LMBIILJN_00059 |
45368 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2233A>G |
None |
M0102748 |
LMBIILJN_00062 |
46283 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
73A>C |
Thr25Pro |
M0102749 |
LMBIILJN_00013 |
10638 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
687A>G |
Leu229Leu |
M0102750 |
LMBIILJN_00013 |
10661 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
710T>G |
Met237Arg |
M0102751 |
LMBIILJN_00014 |
11464 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
119A>C |
Gln40Pro |
M0102752 |
LMBIILJN_00015 |
12299 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
6T>C |
Phe2Phe |
M0102753 |
LMBIILJN_00016 |
12670 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
744C>T |
Arg248Arg |
M0102754 |
LMBIILJN_00016 |
12676 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
738C>T |
Leu246Leu |
M0102755 |
LMBIILJN_00016 |
12706 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
708G>A |
Lys236Lys |
M0102756 |
LMBIILJN_00016 |
12758 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
656G>A |
Gly219Asp |
M0102757 |
LMBIILJN_00012 |
9610 |
4 |
Skin |
0.03 |
protein_coding |
stop_gained |
HIGH |
142C>T |
Gln48* |
M0102758 |
LMBIILJN_00009 |
7569 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
336T>C |
Asp112Asp |
M0102759 |
LMBIILJN_00010 |
7704 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
58A>G |
Lys20Glu |
M0102760 |
LMBIILJN_00010 |
7715 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
69G>A |
Ser23Ser |
M0102761 |
LMBIILJN_00010 |
7718 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
72C>T |
Phe24Phe |
M0102762 |
LMBIILJN_00012 |
9801 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
333T>G |
Thr111Thr |
M0102763 |
LMBIILJN_00038 |
30861 |
10 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4867T>C |
None |
M0102764 |
LMBIILJN_00039 |
31215 |
10 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4959A>G |
None |
M0102765 |
LMBIILJN_00040 |
31630 |
19 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4653A>G |
None |
M0102766 |
LMBIILJN_00041 |
32054 |
15 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4714G>T |
None |
M0102767 |
LMBIILJN_00041 |
32188 |
18 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4848T>C |
None |
M0102768 |
LMBIILJN_00066 |
50223 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
112G>A |
Val38Ile |
M0102769 |
LMBIILJN_00062 |
50366 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4011A>G |
None |
M0102770 |
LMBIILJN_00062 |
50423 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4068T>C |
None |
M0102771 |
LMBIILJN_00062 |
50489 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4134T>C |
None |
M0102772 |
LMBIILJN_00067 |
50961 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
233C>A |
Ala78Glu |
M0102773 |
LMBIILJN_00067 |
51079 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
115G>A |
Val39Ile |
M0102774 |
LMBIILJN_00013 |
10335 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
384A>T |
Pro128Pro |
M0102775 |
LMBIILJN_00013 |
10367 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
416T>G |
Ile139Ser |
M0102776 |
LMBIILJN_00013 |
10821 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
870A>G |
Leu290Leu |
M0102777 |
LMBIILJN_00006 |
10934 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4699T>G |
None |
M0102778 |
LMBIILJN_00006 |
10964 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4729C>T |
None |
M0102779 |
LMBIILJN_00059 |
47114 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3979A>G |
None |
M0102780 |
LMBIILJN_00059 |
47121 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3986C>A |
None |
M0102781 |
LMBIILJN_00059 |
47158 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4023T>C |
None |
M0102782 |
LMBIILJN_00059 |
47160 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4025A>C |
None |
M0102783 |
LMBIILJN_00059 |
47168 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4033A>G |
None |
M0102784 |
LMBIILJN_00059 |
47170 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4035T>G |
None |
M0102785 |
LMBIILJN_00059 |
47307 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4172C>T |
None |
M0102786 |
LMBIILJN_00059 |
47353 |
8 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4218A>C |
None |
M0102787 |
LMBIILJN_00059 |
47357 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4222T>C |
None |
M0102788 |
LMBIILJN_00059 |
47415 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4280A>G |
None |
M0102789 |
LMBIILJN_00059 |
47420 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4285C>T |
None |
M0102790 |
LMBIILJN_00059 |
47434 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4299G>A |
None |
M0102791 |
LMBIILJN_00059 |
47463 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4328T>G |
None |
M0102792 |
LMBIILJN_00059 |
47464 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4329G>A |
None |
M0102793 |
LMBIILJN_00059 |
47466 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4331G>A |
None |
M0102794 |
LMBIILJN_00059 |
47475 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4340T>G |
None |
M0102795 |
LMBIILJN_00059 |
47479 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4344G>A |
None |
M0102796 |
LMBIILJN_00059 |
47481 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4346A>T |
None |
M0102797 |
LMBIILJN_00059 |
47483 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4348T>A |
None |
M0102798 |
LMBIILJN_00059 |
47485 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4350C>A |
None |
M0102799 |
LMBIILJN_00059 |
47515 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4380A>G |
None |
M0102800 |
LMBIILJN_00059 |
47566 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4431C>A |
None |
M0102801 |
LMBIILJN_00064 |
47585 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
561T>G |
Asn187Lys |
M0102802 |
LMBIILJN_00064 |
47749 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
397A>C |
Asn133His |
M0102803 |
LMBIILJN_00064 |
47813 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
333G>A |
Lys111Lys |
M0102804 |
LMBIILJN_00064 |
47915 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
231G>A |
Lys77Lys |
M0102805 |
LMBIILJN_00064 |
48042 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
104C>T |
Ser35Leu |
M0102806 |
LMBIILJN_00064 |
48131 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
15C>T |
Phe5Phe |
M0102807 |
LMBIILJN_00061 |
48164 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3782A>C |
None |
M0102808 |
LMBIILJN_00061 |
48172 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3790C>T |
None |
M0102809 |
LMBIILJN_00061 |
48742 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4360A>G |
None |
M0102810 |
LMBIILJN_00065 |
48817 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
856T>A |
Leu286Ile |
M0102811 |
LMBIILJN_00065 |
48823 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
850A>G |
Arg284Gly |
M0102812 |
LMBIILJN_00030 |
20004 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
192A>G |
Ile64Met |
M0102813 |
LMBIILJN_00030 |
20061 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
135C>T |
Gly45Gly |
M0102814 |
LMBIILJN_00030 |
20089 |
11 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
107A>G |
Asn36Ser |
M0102815 |
LMBIILJN_00031 |
20233 |
11 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
210C>T |
Ala70Ala |
M0102816 |
LMBIILJN_00020 |
20480 |
10 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4171C>A |
None |
M0102817 |
LMBIILJN_00020 |
20485 |
10 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4176G>T |
None |
M0102818 |
LMBIILJN_00020 |
20494 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4185C>T |
None |
M0102819 |
LMBIILJN_00020 |
20552 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4243C>T |
None |
M0102820 |
LMBIILJN_00020 |
20637 |
10 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4328T>C |
None |
M0102821 |
LMBIILJN_00020 |
20656 |
12 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4347T>C |
None |
M0102822 |
LMBIILJN_00020 |
20781 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4472T>C |
None |
M0102823 |
LMBIILJN_00020 |
20782 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4473C>A |
None |
M0102824 |
LMBIILJN_00020 |
20840 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4531T>C |
None |
M0102825 |
LMBIILJN_00020 |
20994 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4685C>T |
None |
M0102826 |
LMBIILJN_00020 |
21098 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4789A>G |
None |
M0102827 |
LMBIILJN_00020 |
21143 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4834C>T |
None |
M0102828 |
LMBIILJN_00020 |
21159 |
8 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4850C>A |
None |
M0102829 |
LMBIILJN_00020 |
21215 |
11 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4906C>A |
None |
M0102830 |
LMBIILJN_00020 |
21224 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4915G>T |
None |
M0102831 |
LMBIILJN_00020 |
21226 |
10 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4917A>G |
None |
M0102832 |
LMBIILJN_00022 |
21363 |
11 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4336G>A |
None |
M0102833 |
LMBIILJN_00022 |
21615 |
10 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4588T>C |
None |
M0102834 |
LMBIILJN_00022 |
21700 |
13 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4673T>C |
None |
M0102835 |
LMBIILJN_00022 |
21816 |
12 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4789C>T |
None |
M0102836 |
LMBIILJN_00022 |
21821 |
12 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4794T>G |
None |
M0102837 |
LMBIILJN_00022 |
21861 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4834C>T |
None |
M0102838 |
LMBIILJN_00022 |
21948 |
13 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4921G>A |
None |
M0102839 |
LMBIILJN_00022 |
21951 |
12 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4924T>C |
None |
M0102840 |
LMBIILJN_00022 |
21967 |
12 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4940A>G |
None |
M0102841 |
LMBIILJN_00022 |
21992 |
12 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4965A>G |
None |
M0102842 |
LMBIILJN_00022 |
22000 |
12 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4973A>G |
None |
M0102843 |
LMBIILJN_00030 |
22033 |
12 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1838A>C |
None |
M0102844 |
LMBIILJN_00030 |
22070 |
12 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1875C>A |
None |
M0102845 |
LMBIILJN_00002 |
1278 |
8 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
788G>A |
Ser263Asn |
M0102846 |
LMBIILJN_00002 |
1306 |
8 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
760T>C |
Ser254Pro |
M0102847 |
LMBIILJN_00002 |
1962 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
104C>T |
Thr35Ile |
M0102848 |
LMBIILJN_00011 |
9069 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
726G>T |
Met242Ile |
M0102849 |
LMBIILJN_00028 |
19162 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
345T>C |
Leu115Leu |
M0102850 |
LMBIILJN_00028 |
19216 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
399A>G |
Ala133Ala |
M0102851 |
LMBIILJN_00028 |
19222 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
405A>G |
Gly135Gly |
M0102852 |
LMBIILJN_00028 |
19243 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
426A>C |
Pro142Pro |
M0102853 |
LMBIILJN_00028 |
19276 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
459T>C |
Phe153Phe |
M0102854 |
LMBIILJN_00028 |
19277 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
460T>C |
Leu154Leu |
M0102855 |
LMBIILJN_00028 |
19300 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
483T>C |
Thr161Thr |
M0102856 |
LMBIILJN_00028 |
19303 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
486A>T |
Gly162Gly |
M0102857 |
LMBIILJN_00028 |
19354 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
537G>A |
Val179Val |
M0102858 |
LMBIILJN_00019 |
19377 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4280C>T |
None |
M0102859 |
LMBIILJN_00019 |
19379 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4282C>T |
None |
M0102860 |
LMBIILJN_00019 |
19401 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4304T>A |
None |
M0102861 |
LMBIILJN_00002 |
1886 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
180G>T |
Gly60Gly |
M0102862 |
LMBIILJN_00002 |
2027 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
39A>T |
Leu13Phe |
M0102863 |
LMBIILJN_00002 |
2104 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-39C>T |
None |
M0102864 |
LMBIILJN_00002 |
2122 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-57A>G |
None |
M0102865 |
LMBIILJN_00003 |
2713 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
509T>C |
Ile170Thr |
M0102866 |
LMBIILJN_00003 |
2796 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
426T>C |
Phe142Phe |
M0102867 |
LMBIILJN_00003 |
2918 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
304G>A |
Val102Ile |
M0102868 |
LMBIILJN_00003 |
2939 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
283T>C |
Tyr95His |
M0102869 |
LMBIILJN_00003 |
2961 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
261T>C |
Pro87Pro |
M0102870 |
LMBIILJN_00003 |
2991 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
231A>G |
Lys77Lys |
M0102871 |
LMBIILJN_00003 |
3002 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
220A>G |
Asn74Asp |
M0102872 |
LMBIILJN_00003 |
3009 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
213C>A |
Val71Val |
M0102873 |
LMBIILJN_00004 |
3778 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
398A>G |
Glu133Gly |
M0102874 |
LMBIILJN_00004 |
3813 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
363T>A |
Ile121Ile |
M0102875 |
LMBIILJN_00004 |
3830 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
346T>C |
Leu116Leu |
M0102876 |
LMBIILJN_00004 |
3832 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
344T>C |
Val115Ala |
M0102877 |
LMBIILJN_00004 |
3852 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
324T>C |
Phe108Phe |
M0102878 |
LMBIILJN_00004 |
4097 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
79G>A |
Val27Ile |
M0102879 |
LMBIILJN_00002 |
4177 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2112C>T |
None |
M0102880 |
LMBIILJN_00048 |
33834 |
8 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
550A>G |
Lys184Glu |
M0102881 |
LMBIILJN_00048 |
34025 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
741A>C |
Glu247Asp |
M0102882 |
LMBIILJN_00048 |
34057 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
773G>A |
Gly258Asp |
M0102883 |
LMBIILJN_00045 |
30438 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
538G>T |
Ala180Ser |
M0102884 |
LMBIILJN_00037 |
30661 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4990A>G |
None |
M0102885 |
LMBIILJN_00037 |
30671 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-5000T>C |
None |
M0102886 |
LMBIILJN_00042 |
32479 |
17 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4131C>T |
None |
M0102887 |
LMBIILJN_00028 |
18835 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
18C>T |
Tyr6Tyr |
M0102888 |
LMBIILJN_00028 |
18882 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
65C>T |
Thr22Ile |
M0102889 |
LMBIILJN_00028 |
18892 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
75T>C |
Asn25Asn |
M0102890 |
LMBIILJN_00028 |
18939 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
122C>T |
Thr41Met |
M0102891 |
LMBIILJN_00028 |
18940 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
123G>A |
Thr41Thr |
M0102892 |
LMBIILJN_00028 |
18944 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
127A>C |
Arg43Arg |
M0102893 |
LMBIILJN_00028 |
18970 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
153G>A |
Glu51Glu |
M0102894 |
LMBIILJN_00028 |
18984 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
167G>A |
Gly56Glu |
M0102895 |
LMBIILJN_00028 |
19015 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
198T>C |
Arg66Arg |
M0102896 |
LMBIILJN_00028 |
19030 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
213A>G |
Thr71Thr |
M0102897 |
LMBIILJN_00028 |
19036 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
219G>A |
Gln73Gln |
M0102898 |
LMBIILJN_00028 |
19048 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
231G>A |
Leu77Leu |
M0102899 |
LMBIILJN_00028 |
19066 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
249C>T |
Asn83Asn |
M0102900 |
LMBIILJN_00028 |
19072 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
255C>T |
Asn85Asn |
M0102901 |
LMBIILJN_00028 |
19075 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
258C>T |
Ile86Ile |
M0102902 |
LMBIILJN_00028 |
19084 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
267G>A |
Gln89Gln |
M0102903 |
LMBIILJN_00028 |
19108 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
291T>A |
Thr97Thr |
M0102904 |
LMBIILJN_00028 |
19111 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
294G>A |
Lys98Lys |
M0102905 |
LMBIILJN_00028 |
19123 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
306A>T |
Gly102Gly |
M0102906 |
LMBIILJN_00019 |
19498 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4401G>C |
None |
M0102907 |
LMBIILJN_00019 |
19510 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4413T>C |
None |
M0102908 |
LMBIILJN_00019 |
19513 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4416T>C |
None |
M0102909 |
LMBIILJN_00019 |
19521 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4424T>C |
None |
M0102910 |
LMBIILJN_00048 |
33362 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
78C>T |
Asp26Asp |
M0102911 |
LMBIILJN_00048 |
33371 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
87T>C |
Phe29Phe |
M0102912 |
LMBIILJN_00041 |
32148 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4808T>C |
None |
M0102913 |
LMBIILJN_00041 |
32150 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4810A>G |
None |
M0102914 |
LMBIILJN_00041 |
32261 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4921A>C |
None |
M0102915 |
LMBIILJN_00042 |
32508 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4160A>T |
None |
M0102916 |
LMBIILJN_00057 |
39096 |
8 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1264T>G |
Tyr422Asp |
M0102917 |
LMBIILJN_00017 |
18630 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4822T>A |
None |
M0102918 |
LMBIILJN_00019 |
19422 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4325G>T |
None |
M0102919 |
LMBIILJN_00031 |
20404 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
39C>A |
Phe13Leu |
M0102920 |
LMBIILJN_00020 |
20811 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4502A>G |
None |
M0102921 |
LMBIILJN_00003 |
2712 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
510A>G |
Ile170Met |
M0102922 |
LMBIILJN_00003 |
3006 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
216T>C |
Gly72Gly |
M0102923 |
LMBIILJN_00003 |
3090 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
132G>A |
Gln44Gln |
M0102924 |
LMBIILJN_00040 |
31919 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4942C>A |
None |
M0102925 |
LMBIILJN_00010 |
8102 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
456C>T |
Gly152Gly |
M0102926 |
LMBIILJN_00001 |
148 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-87T>C |
None |
M0102927 |
LMBIILJN_00001 |
230 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-5C>T |
None |
M0102928 |
LMBIILJN_00001 |
339 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
105G>A |
Thr35Thr |
M0102929 |
LMBIILJN_00002 |
887 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1179T>G |
Val393Val |
M0102930 |
LMBIILJN_00002 |
1226 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
840G>A |
Thr280Thr |
M0102931 |
LMBIILJN_00002 |
1351 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
715A>G |
Ile239Val |
M0102932 |
LMBIILJN_00002 |
1904 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
162T>C |
Tyr54Tyr |
M0102933 |
LMBIILJN_00002 |
2044 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
22G>A |
Asp8Asn |
M0102934 |
LMBIILJN_00002 |
2079 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-14C>A |
None |
M0102935 |
LMBIILJN_00002 |
2111 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-46C>T |
None |
M0102936 |
LMBIILJN_00002 |
2148 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-83C>T |
None |
M0102937 |
LMBIILJN_00002 |
2153 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-88A>C |
None |
M0102938 |
LMBIILJN_00002 |
2158 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-93A>G |
None |
M0102939 |
LMBIILJN_00002 |
2166 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-101T>C |
None |
M0102940 |
LMBIILJN_00002 |
2167 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-102G>A |
None |
M0102941 |
LMBIILJN_00002 |
2195 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-130T>C |
None |
M0102942 |
LMBIILJN_00003 |
2250 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
972G>C |
Gln324His |
M0102943 |
LMBIILJN_00003 |
2256 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
966A>T |
Thr322Thr |
M0102944 |
LMBIILJN_00003 |
2319 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
903G>A |
Met301Ile |
M0102945 |
LMBIILJN_00003 |
2358 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
864A>G |
Glu288Glu |
M0102946 |
LMBIILJN_00003 |
2363 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
859C>T |
Leu287Leu |
M0102947 |
LMBIILJN_00003 |
2415 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
807C>T |
Gly269Gly |
M0102948 |
LMBIILJN_00003 |
2473 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
749T>C |
Ile250Thr |
M0102949 |
LMBIILJN_00036 |
29868 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4862G>A |
None |
M0102950 |
LMBIILJN_00014 |
12351 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-769T>C |
None |
M0102951 |
LMBIILJN_00048 |
33295 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
11G>A |
Gly4Glu |
M0102952 |
LMBIILJN_00048 |
33939 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
655C>T |
His219Tyr |
M0102953 |
LMBIILJN_00048 |
33953 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
669G>A |
Gln223Gln |
M0102954 |
LMBIILJN_00021 |
16592 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
137C>T |
Ala46Val |
M0102955 |
LMBIILJN_00022 |
16724 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
304A>G |
Lys102Glu |
M0102956 |
LMBIILJN_00015 |
17066 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4762G>A |
None |
M0102957 |
LMBIILJN_00015 |
17078 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4774T>G |
None |
M0102958 |
LMBIILJN_00024 |
17499 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
51A>T |
Lys17Asn |
M0102959 |
LMBIILJN_00024 |
17560 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
112A>G |
Asn38Asp |
M0102960 |
LMBIILJN_00037 |
25550 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
122T>G |
Ile41Ser |
M0102961 |
LMBIILJN_00037 |
25589 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
83C>T |
Ser28Leu |
M0102962 |
LMBIILJN_00038 |
25868 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
127C>A |
Gln43Lys |
M0102963 |
LMBIILJN_00038 |
25869 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
126A>C |
Ile42Ile |
M0102964 |
LMBIILJN_00038 |
25886 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
109G>C |
Glu37Gln |
M0102965 |
LMBIILJN_00038 |
25906 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
89G>A |
Arg30Lys |
M0102966 |
LMBIILJN_00038 |
25944 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
51T>G |
Gly17Gly |
M0102967 |
LMBIILJN_00032 |
26001 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4489C>T |
None |
M0102968 |
LMBIILJN_00032 |
26330 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4818G>A |
None |
M0102969 |
LMBIILJN_00032 |
26337 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4825G>A |
None |
M0102970 |
LMBIILJN_00036 |
26675 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1669A>G |
None |
M0102971 |
LMBIILJN_00036 |
26691 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1685G>T |
None |
M0102972 |
LMBIILJN_00041 |
27144 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
197G>A |
Ser66Asn |
M0102973 |
LMBIILJN_00036 |
27403 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2397T>C |
None |
M0102974 |
LMBIILJN_00059 |
47350 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4215T>A |
None |
M0102975 |
LMBIILJN_00061 |
48466 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4084A>G |
None |
M0102976 |
LMBIILJN_00061 |
48502 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4120T>C |
None |
M0102977 |
LMBIILJN_00065 |
48812 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
861A>G |
Ile287Met |
M0102978 |
LMBIILJN_00065 |
48813 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
860T>C |
Ile287Thr |
M0102979 |
LMBIILJN_00065 |
48814 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
859A>G |
Ile287Val |
M0102980 |
LMBIILJN_00065 |
48822 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
851G>A |
Arg284Lys |
M0102981 |
LMBIILJN_00011 |
8731 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
388G>T |
Val130Phe |
M0102982 |
LMBIILJN_00011 |
8793 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
450T>C |
Gly150Gly |
M0102983 |
LMBIILJN_00011 |
8886 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
543C>A |
Ile181Ile |
M0102984 |
LMBIILJN_00003 |
2330 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
892C>A |
Gln298Lys |
M0102985 |
LMBIILJN_00003 |
2433 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
789G>A |
Glu263Glu |
M0102986 |
LMBIILJN_00003 |
2687 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
535T>G |
Ser179Ala |
M0102987 |
LMBIILJN_00003 |
2781 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
441T>C |
Val147Val |
M0102988 |
LMBIILJN_00003 |
2783 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
439G>A |
Val147Ile |
M0102989 |
LMBIILJN_00003 |
2784 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
438T>A |
Ile146Ile |
M0102990 |
LMBIILJN_00003 |
2805 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
417A>T |
Ile139Ile |
M0102991 |
LMBIILJN_00003 |
2814 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
408A>T |
Ala136Ala |
M0102992 |
LMBIILJN_00003 |
2817 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
405G>A |
Gln135Gln |
M0102993 |
LMBIILJN_00003 |
2823 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
399C>T |
Val133Val |
M0102994 |
LMBIILJN_00003 |
2826 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
396A>G |
Pro132Pro |
M0102995 |
LMBIILJN_00003 |
2841 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
381A>C |
Gly127Gly |
M0102996 |
LMBIILJN_00003 |
2854 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
368G>A |
Ser123Asn |
M0102997 |
LMBIILJN_00004 |
3573 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
603T>C |
Asn201Asn |
M0102998 |
LMBIILJN_00004 |
3705 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
471G>A |
Val157Val |
M0102999 |
LMBIILJN_00005 |
4899 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
144G>C |
Gly48Gly |
M0103000 |
LMBIILJN_00005 |
4944 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
99A>G |
Gly33Gly |
M0103001 |
LMBIILJN_00065 |
49313 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
360A>G |
Glu120Glu |
M0103002 |
LMBIILJN_00065 |
49337 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
336T>C |
Pro112Pro |
M0103003 |
LMBIILJN_00065 |
49529 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
144G>A |
Glu48Glu |
M0103004 |
LMBIILJN_00031 |
20217 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
226G>A |
Val76Ile |
M0103005 |
LMBIILJN_00043 |
29222 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
581A>G |
Asn194Ser |
M0103006 |
LMBIILJN_00043 |
29273 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
632T>C |
Ile211Thr |
M0103007 |
LMBIILJN_00043 |
29269 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
628A>C |
Lys210Gln |
M0103008 |
LMBIILJN_00057 |
39323 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1037G>A |
Gly346Asp |
M0103009 |
LMBIILJN_00057 |
39538 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
822T>C |
His274His |
M0103010 |
LMBIILJN_00057 |
39948 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
412A>G |
Ile138Val |
M0103011 |
LMBIILJN_00057 |
39011 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1349A>G |
Asn450Ser |
M0103012 |
LMBIILJN_00036 |
23944 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1063G>A |
Val355Ile |
M0103013 |
LMBIILJN_00036 |
23978 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1029T>C |
Thr343Thr |
M0103014 |
LMBIILJN_00036 |
24082 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
925G>A |
Val309Ile |
M0103015 |
LMBIILJN_00036 |
24436 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
571T>C |
Ser191Pro |
M0103016 |
LMBIILJN_00013 |
10395 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
444T>C |
Tyr148Tyr |
M0103017 |
LMBIILJN_00016 |
13284 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
130C>A |
Pro44Thr |
M0103018 |
LMBIILJN_00014 |
14336 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2754T>C |
None |
M0103019 |
LMBIILJN_00014 |
14356 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2774C>T |
None |
M0103020 |
LMBIILJN_00046 |
35910 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4418T>C |
None |
M0103021 |
LMBIILJN_00062 |
49853 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3498G>A |
None |
M0103022 |
LMBIILJN_00062 |
49868 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3513C>T |
None |
M0103023 |
LMBIILJN_00062 |
50598 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4243G>A |
None |
M0103024 |
LMBIILJN_00062 |
50784 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4429C>A |
None |
M0103025 |
LMBIILJN_00030 |
25130 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4935A>T |
None |
M0103026 |
LMBIILJN_00031 |
25223 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4781T>C |
None |
M0103027 |
LMBIILJN_00037 |
25448 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
224G>A |
Gly75Asp |
M0103028 |
LMBIILJN_00037 |
25648 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
24A>G |
Lys8Lys |
M0103029 |
LMBIILJN_00037 |
25649 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
23A>G |
Lys8Arg |
M0103030 |
LMBIILJN_00032 |
26295 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4783G>A |
None |
M0103031 |
LMBIILJN_00032 |
26309 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4797G>A |
None |
M0103032 |
LMBIILJN_00032 |
26318 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4806A>G |
None |
M0103033 |
LMBIILJN_00032 |
26325 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4813T>C |
None |
M0103034 |
LMBIILJN_00032 |
26343 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4831A>G |
None |
M0103035 |
LMBIILJN_00032 |
26364 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4852A>G |
None |
M0103036 |
LMBIILJN_00032 |
26372 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4860G>A |
None |
M0103037 |
LMBIILJN_00032 |
26410 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4898G>A |
None |
M0103038 |
LMBIILJN_00001 |
550 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
316C>T |
His106Tyr |
M0103039 |
LMBIILJN_00002 |
1816 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
250G>A |
Val84Met |
M0103040 |
LMBIILJN_00004 |
3590 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
586G>A |
Glu196Lys |
M0103041 |
LMBIILJN_00038 |
30746 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4752A>G |
None |
M0103042 |
LMBIILJN_00004 |
3483 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
693A>C |
Ile231Ile |
M0103043 |
LMBIILJN_00004 |
3500 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
676A>G |
Ile226Val |
M0103044 |
LMBIILJN_00004 |
3522 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
654G>A |
Gln218Gln |
M0103045 |
LMBIILJN_00004 |
3810 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
366A>C |
Gly122Gly |
M0103046 |
LMBIILJN_00004 |
3897 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
279C>T |
Phe93Phe |
M0103047 |
LMBIILJN_00004 |
3903 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
273G>A |
Lys91Lys |
M0103048 |
LMBIILJN_00004 |
3918 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
258T>A |
Phe86Leu |
M0103049 |
LMBIILJN_00004 |
3927 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
249A>G |
Leu83Leu |
M0103050 |
LMBIILJN_00004 |
3933 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
243A>G |
Leu81Leu |
M0103051 |
LMBIILJN_00004 |
3948 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
228A>G |
Gln76Gln |
M0103052 |
LMBIILJN_00004 |
3957 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
219T>C |
Asp73Asp |
M0103053 |
LMBIILJN_00062 |
49785 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3430C>T |
None |
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 |