Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C3085 |
Reference Plasmid |
MET0084_bin.3__k81_17211 |
Reference Plasmid Size |
99018 |
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 |
M0072642 |
BKFGJPLC_00052 |
53586 |
10 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
717C>T |
Arg239Arg |
M0072643 |
BKFGJPLC_00052 |
53610 |
8 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
741G>A |
Lys247Lys |
M0072644 |
BKFGJPLC_00045 |
47847 |
10 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
607T>C |
Tyr203His |
M0072645 |
BKFGJPLC_00045 |
47862 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
592G>C |
Val198Leu |
M0072646 |
BKFGJPLC_00045 |
47884 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
570T>G |
Thr190Thr |
M0072647 |
BKFGJPLC_00045 |
47886 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
568A>G |
Thr190Ala |
M0072648 |
BKFGJPLC_00045 |
47899 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
555A>T |
Val185Val |
M0072649 |
BKFGJPLC_00045 |
47900 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
554T>C |
Val185Ala |
M0072650 |
BKFGJPLC_00045 |
47902 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
552T>C |
Val184Val |
M0072651 |
BKFGJPLC_00045 |
48043 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
411C>T |
Ala137Ala |
M0072652 |
BKFGJPLC_00045 |
48052 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
402C>A |
Leu134Leu |
M0072653 |
BKFGJPLC_00045 |
48079 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
375T>G |
Arg125Arg |
M0072654 |
BKFGJPLC_00045 |
48080 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
374G>A |
Arg125His |
M0072655 |
BKFGJPLC_00045 |
48082 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
372T>A |
Pro124Pro |
M0072656 |
BKFGJPLC_00045 |
48088 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
366T>C |
Val122Val |
M0072657 |
BKFGJPLC_00045 |
48091 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
363T>C |
Ala121Ala |
M0072658 |
BKFGJPLC_00045 |
48124 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
330T>G |
Pro110Pro |
M0072659 |
BKFGJPLC_00045 |
48127 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
327G>A |
Ala109Ala |
M0072660 |
BKFGJPLC_00045 |
48165 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
289T>C |
Leu97Leu |
M0072661 |
BKFGJPLC_00045 |
48250 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
204G>A |
Val68Val |
M0072662 |
BKFGJPLC_00045 |
48267 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
187G>A |
Val63Ile |
M0072663 |
BKFGJPLC_00045 |
48277 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
177A>G |
Pro59Pro |
M0072664 |
BKFGJPLC_00045 |
48292 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
162T>C |
Val54Val |
M0072665 |
BKFGJPLC_00045 |
48301 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
153A>T |
Ala51Ala |
M0072666 |
BKFGJPLC_00045 |
48316 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
138A>T |
Leu46Phe |
M0072667 |
BKFGJPLC_00045 |
48318 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
136T>C |
Leu46Leu |
M0072668 |
BKFGJPLC_00045 |
48339 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
115C>T |
Pro39Ser |
M0072669 |
BKFGJPLC_00045 |
48340 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
114G>A |
Val38Val |
M0072670 |
BKFGJPLC_00045 |
48352 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
102C>A |
Ser34Arg |
M0072671 |
BKFGJPLC_00045 |
48354 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
100A>G |
Ser34Gly |
M0072672 |
BKFGJPLC_00045 |
48367 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
87A>G |
Leu29Leu |
M0072673 |
BKFGJPLC_00045 |
48373 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
81T>A |
Gly27Gly |
M0072674 |
BKFGJPLC_00045 |
48376 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
78T>A |
Thr26Thr |
M0072675 |
BKFGJPLC_00042 |
48510 |
5 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4765A>G |
None |
M0072676 |
BKFGJPLC_00042 |
48528 |
5 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4783T>C |
None |
M0072677 |
BKFGJPLC_00042 |
48599 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4854C>A |
None |
M0072678 |
BKFGJPLC_00042 |
48608 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4863A>G |
None |
M0072679 |
BKFGJPLC_00042 |
48617 |
5 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4872C>T |
None |
M0072680 |
BKFGJPLC_00042 |
48627 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4882T>G |
None |
M0072681 |
BKFGJPLC_00042 |
48639 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4894A>G |
None |
M0072682 |
BKFGJPLC_00042 |
48677 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4932A>G |
None |
M0072683 |
BKFGJPLC_00046 |
48699 |
6 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
913G>A |
Val305Ile |
M0072684 |
BKFGJPLC_00046 |
48771 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
841C>T |
Leu281Phe |
M0072685 |
BKFGJPLC_00046 |
48790 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
822A>G |
Gly274Gly |
M0072686 |
BKFGJPLC_00046 |
49123 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
489G>A |
Gly163Gly |
M0072687 |
BKFGJPLC_00046 |
49234 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
378A>C |
Ala126Ala |
M0072688 |
BKFGJPLC_00045 |
49618 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1165G>A |
None |
M0072689 |
BKFGJPLC_00045 |
49726 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1273C>T |
None |
M0072690 |
BKFGJPLC_00047 |
50092 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
346G>T |
Ala116Ser |
M0072691 |
BKFGJPLC_00049 |
50951 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
396T>C |
Leu132Leu |
M0072692 |
BKFGJPLC_00049 |
50993 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
438A>G |
Leu146Leu |
M0072693 |
BKFGJPLC_00049 |
51032 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
477A>G |
Gly159Gly |
M0072694 |
BKFGJPLC_00049 |
51045 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
490G>T |
Ala164Ser |
M0072695 |
BKFGJPLC_00049 |
51062 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
507T>C |
Asn169Asn |
M0072696 |
BKFGJPLC_00049 |
51071 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
516T>C |
Asp172Asp |
M0072697 |
BKFGJPLC_00049 |
51101 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
546C>T |
Ser182Ser |
M0072698 |
BKFGJPLC_00049 |
51146 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
591T>C |
Gly197Gly |
M0072699 |
BKFGJPLC_00049 |
51161 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
606C>T |
Gly202Gly |
M0072700 |
BKFGJPLC_00049 |
51170 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
615A>G |
Ser205Ser |
M0072701 |
BKFGJPLC_00049 |
51179 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
624T>A |
Thr208Thr |
M0072702 |
BKFGJPLC_00049 |
51182 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
627C>A |
Gly209Gly |
M0072703 |
BKFGJPLC_00049 |
51188 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
633C>T |
Ser211Ser |
M0072704 |
BKFGJPLC_00049 |
51194 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
639A>G |
Thr213Thr |
M0072705 |
BKFGJPLC_00049 |
51200 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
645G>A |
Gly215Gly |
M0072706 |
BKFGJPLC_00054 |
55082 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
771T>G |
Val257Val |
M0072707 |
BKFGJPLC_00054 |
55097 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
756C>T |
Asp252Asp |
M0072708 |
BKFGJPLC_00054 |
55109 |
11 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
744C>T |
Val248Val |
M0072709 |
BKFGJPLC_00054 |
55115 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
738T>C |
Tyr246Tyr |
M0072710 |
BKFGJPLC_00054 |
55153 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
700G>A |
Val234Ile |
M0072711 |
BKFGJPLC_00054 |
55175 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
678C>T |
Tyr226Tyr |
M0072712 |
BKFGJPLC_00054 |
55199 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
654A>G |
Leu218Leu |
M0072713 |
BKFGJPLC_00054 |
55202 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
651T>C |
Ala217Ala |
M0072714 |
BKFGJPLC_00054 |
55220 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
633A>T |
Gly211Gly |
M0072715 |
BKFGJPLC_00054 |
55229 |
12 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
624T>C |
His208His |
M0072716 |
BKFGJPLC_00054 |
55678 |
14 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
175C>T |
Pro59Ser |
M0072717 |
BKFGJPLC_00054 |
55697 |
14 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
156C>T |
Ile52Ile |
M0072718 |
BKFGJPLC_00054 |
55730 |
11 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
123G>A |
Leu41Leu |
M0072719 |
BKFGJPLC_00054 |
55733 |
11 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
120C>T |
Phe40Phe |
M0072720 |
BKFGJPLC_00055 |
56120 |
16 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
75A>G |
Thr25Thr |
M0072721 |
BKFGJPLC_00055 |
56546 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
501T>C |
Gly167Gly |
M0072722 |
BKFGJPLC_00055 |
56564 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
519C>A |
Asp173Glu |
M0072723 |
BKFGJPLC_00056 |
56815 |
10 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1062C>T |
Asp354Asp |
M0072724 |
BKFGJPLC_00056 |
57020 |
16 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
857A>C |
Glu286Ala |
M0072725 |
BKFGJPLC_00056 |
57046 |
16 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
831C>A |
Arg277Arg |
M0072726 |
BKFGJPLC_00056 |
57103 |
17 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
774A>G |
Thr258Thr |
M0072727 |
BKFGJPLC_00056 |
57166 |
17 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
711T>C |
Asn237Asn |
M0072728 |
BKFGJPLC_00056 |
57211 |
16 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
666T>C |
Asn222Asn |
M0072729 |
BKFGJPLC_00056 |
57223 |
11 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
654A>G |
Pro218Pro |
M0072730 |
BKFGJPLC_00056 |
57292 |
10 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
585G>A |
Gln195Gln |
M0072731 |
BKFGJPLC_00056 |
57294 |
10 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
583C>A |
Gln195Lys |
M0072732 |
BKFGJPLC_00056 |
57296 |
10 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
581A>G |
Lys194Arg |
M0072733 |
BKFGJPLC_00056 |
57349 |
10 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
528C>T |
Asn176Asn |
M0072734 |
BKFGJPLC_00056 |
57367 |
10 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
510G>A |
Lys170Lys |
M0072735 |
BKFGJPLC_00056 |
57382 |
15 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
495A>G |
Lys165Lys |
M0072736 |
BKFGJPLC_00056 |
57391 |
10 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
486G>A |
Val162Val |
M0072737 |
BKFGJPLC_00056 |
57392 |
15 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
485T>C |
Val162Ala |
M0072738 |
BKFGJPLC_00056 |
57412 |
15 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
465A>G |
Thr155Thr |
M0072739 |
BKFGJPLC_00056 |
57418 |
15 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
459A>G |
Thr153Thr |
M0072740 |
BKFGJPLC_00056 |
57459 |
15 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
418G>T |
Ala140Ser |
M0072741 |
BKFGJPLC_00056 |
57514 |
15 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
363A>T |
Gly121Gly |
M0072742 |
BKFGJPLC_00056 |
57568 |
11 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
309A>G |
Ala103Ala |
M0072743 |
BKFGJPLC_00056 |
57571 |
14 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
306T>C |
Ser102Ser |
M0072744 |
BKFGJPLC_00056 |
57622 |
13 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
255G>A |
Glu85Glu |
M0072745 |
BKFGJPLC_00056 |
57637 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
240C>T |
Leu80Leu |
M0072746 |
BKFGJPLC_00056 |
57706 |
10 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
171A>C |
Gly57Gly |
M0072747 |
BKFGJPLC_00056 |
57760 |
10 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
117T>C |
Val39Val |
M0072748 |
BKFGJPLC_00056 |
57790 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
87T>C |
Pro29Pro |
M0072749 |
BKFGJPLC_00056 |
57807 |
10 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
70G>C |
Asp24His |
M0072750 |
BKFGJPLC_00056 |
57817 |
10 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
60G>T |
Thr20Thr |
M0072751 |
BKFGJPLC_00056 |
57823 |
10 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
54T>A |
Phe18Leu |
M0072752 |
BKFGJPLC_00053 |
57878 |
14 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3816G>T |
None |
M0072753 |
BKFGJPLC_00053 |
58009 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3947A>G |
None |
M0072754 |
BKFGJPLC_00053 |
58013 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3951A>C |
None |
M0072755 |
BKFGJPLC_00057 |
58210 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
972A>C |
Pro324Pro |
M0072756 |
BKFGJPLC_00057 |
58247 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
935A>G |
His312Arg |
M0072757 |
BKFGJPLC_00057 |
58255 |
9 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
927C>T |
Tyr309Tyr |
M0072758 |
BKFGJPLC_00057 |
58318 |
12 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
864T>C |
Gly288Gly |
M0072759 |
BKFGJPLC_00057 |
58437 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
745C>A |
Arg249Arg |
M0072760 |
BKFGJPLC_00057 |
58461 |
9 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
721G>A |
Glu241Lys |
M0072761 |
BKFGJPLC_00057 |
58469 |
6 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
713A>G |
Glu238Gly |
M0072762 |
BKFGJPLC_00057 |
58470 |
10 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
712G>A |
Glu238Lys |
M0072763 |
BKFGJPLC_00057 |
58681 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
501A>G |
Lys167Lys |
M0072764 |
BKFGJPLC_00057 |
58833 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
349G>A |
Glu117Lys |
M0072765 |
BKFGJPLC_00052 |
53064 |
8 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
195G>T |
Arg65Arg |
M0072766 |
BKFGJPLC_00052 |
53088 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
219C>T |
Asn73Asn |
M0072767 |
BKFGJPLC_00052 |
53266 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
397C>T |
Leu133Phe |
M0072768 |
BKFGJPLC_00052 |
53365 |
9 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
496T>C |
Leu166Leu |
M0072769 |
BKFGJPLC_00052 |
53376 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
507A>C |
Thr169Thr |
M0072770 |
BKFGJPLC_00052 |
53414 |
8 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
545A>G |
His182Arg |
M0072771 |
BKFGJPLC_00052 |
53523 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
654G>A |
Thr218Thr |
M0072772 |
BKFGJPLC_00052 |
53654 |
3 |
Skin |
0.04 |
protein_coding |
splice_region_variant&stop_retained_variant |
LOW |
785G>A |
Ter262Ter |
M0072773 |
BKFGJPLC_00046 |
53659 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4048G>T |
None |
M0072774 |
BKFGJPLC_00046 |
53662 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4051A>G |
None |
M0072775 |
BKFGJPLC_00046 |
53668 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4057G>A |
None |
M0072776 |
BKFGJPLC_00046 |
53674 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4063G>C |
None |
M0072777 |
BKFGJPLC_00046 |
53694 |
5 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4083C>T |
None |
M0072778 |
BKFGJPLC_00046 |
53706 |
6 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4095A>G |
None |
M0072779 |
BKFGJPLC_00046 |
53773 |
8 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4162G>C |
None |
M0072780 |
BKFGJPLC_00046 |
53774 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4163T>C |
None |
M0072781 |
BKFGJPLC_00046 |
53779 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4168A>G |
None |
M0072782 |
BKFGJPLC_00046 |
53781 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4170G>A |
None |
M0072783 |
BKFGJPLC_00046 |
53803 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4192C>T |
None |
M0072784 |
BKFGJPLC_00053 |
53830 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
233T>C |
Leu78Ser |
M0072785 |
BKFGJPLC_00053 |
53844 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
219A>G |
Ile73Met |
M0072786 |
BKFGJPLC_00053 |
53856 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
207T>C |
Cys69Cys |
M0072787 |
BKFGJPLC_00053 |
53871 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
192T>C |
Ile64Ile |
M0072788 |
BKFGJPLC_00053 |
53882 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
181A>G |
Thr61Ala |
M0072789 |
BKFGJPLC_00053 |
53917 |
6 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
146C>T |
Ser49Leu |
M0072790 |
BKFGJPLC_00053 |
53959 |
6 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
104A>G |
Asn35Ser |
M0072791 |
BKFGJPLC_00053 |
54017 |
6 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
46G>T |
Asp16Tyr |
M0072792 |
BKFGJPLC_00053 |
54056 |
6 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
7C>A |
Pro3Thr |
M0072793 |
BKFGJPLC_00054 |
54088 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1765C>A |
Gln589Lys |
M0072794 |
BKFGJPLC_00054 |
54096 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1757A>C |
Lys586Thr |
M0072795 |
BKFGJPLC_00054 |
54665 |
12 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1188G>A |
Gln396Gln |
M0072796 |
BKFGJPLC_00054 |
54833 |
11 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1020C>A |
Pro340Pro |
M0072797 |
BKFGJPLC_00054 |
54836 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1017A>G |
Leu339Leu |
M0072798 |
BKFGJPLC_00054 |
54848 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1005T>C |
Phe335Phe |
M0072799 |
BKFGJPLC_00054 |
54851 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1002G>A |
Lys334Lys |
M0072800 |
BKFGJPLC_00054 |
54857 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
996T>C |
Pro332Pro |
M0072801 |
BKFGJPLC_00054 |
54860 |
9 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
993C>T |
Asn331Asn |
M0072802 |
BKFGJPLC_00054 |
54863 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
990T>C |
Gly330Gly |
M0072803 |
BKFGJPLC_00054 |
54884 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
969C>T |
Ala323Ala |
M0072804 |
BKFGJPLC_00054 |
54893 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
960T>G |
Arg320Arg |
M0072805 |
BKFGJPLC_00054 |
54920 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
933T>C |
Asp311Asp |
M0072806 |
BKFGJPLC_00054 |
54935 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
918A>G |
Ala306Ala |
M0072807 |
BKFGJPLC_00054 |
54946 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
907G>C |
Asp303His |
M0072808 |
BKFGJPLC_00054 |
54953 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
900T>C |
Gly300Gly |
M0072809 |
BKFGJPLC_00054 |
54959 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
894A>T |
Thr298Thr |
M0072810 |
BKFGJPLC_00054 |
54986 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
867T>G |
Thr289Thr |
M0072811 |
BKFGJPLC_00054 |
54998 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
855C>T |
Leu285Leu |
M0072812 |
BKFGJPLC_00054 |
55002 |
13 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
851G>A |
Gly284Asp |
M0072813 |
BKFGJPLC_00054 |
55016 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
837G>A |
Gln279Gln |
M0072814 |
BKFGJPLC_00054 |
55022 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
831G>A |
Thr277Thr |
M0072815 |
BKFGJPLC_00054 |
55136 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
717C>T |
Ser239Ser |
M0072816 |
BKFGJPLC_00054 |
55268 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
585G>A |
Ala195Ala |
M0072817 |
BKFGJPLC_00054 |
55289 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
564A>T |
Ala188Ala |
M0072818 |
BKFGJPLC_00054 |
55301 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
552A>G |
Lys184Lys |
M0072819 |
BKFGJPLC_00054 |
55322 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
531G>A |
Ser177Ser |
M0072820 |
BKFGJPLC_00054 |
55359 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
494C>A |
Thr165Lys |
M0072821 |
BKFGJPLC_00054 |
55361 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
492A>G |
Val164Val |
M0072822 |
BKFGJPLC_00054 |
55390 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
463T>A |
Leu155Met |
M0072823 |
BKFGJPLC_00054 |
55400 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
453T>C |
Leu151Leu |
M0072824 |
BKFGJPLC_00054 |
55415 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
438A>C |
Ala146Ala |
M0072825 |
BKFGJPLC_00054 |
55424 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
429G>T |
Thr143Thr |
M0072826 |
BKFGJPLC_00054 |
55442 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
411C>T |
Asp137Asp |
M0072827 |
BKFGJPLC_00054 |
55451 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
402G>A |
Leu134Leu |
M0072828 |
BKFGJPLC_00054 |
55454 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
399C>A |
Arg133Arg |
M0072829 |
BKFGJPLC_00054 |
55486 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
367C>A |
Arg123Arg |
M0072830 |
BKFGJPLC_00054 |
55571 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
282T>C |
Phe94Phe |
M0072831 |
BKFGJPLC_00054 |
55574 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
279A>G |
Leu93Leu |
M0072832 |
BKFGJPLC_00054 |
55592 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
261C>T |
Phe87Phe |
M0072833 |
BKFGJPLC_00054 |
55598 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
255C>T |
Asn85Asn |
M0072834 |
BKFGJPLC_00054 |
55601 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
252G>A |
Glu84Glu |
M0072835 |
BKFGJPLC_00054 |
55613 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
240C>T |
Gly80Gly |
M0072836 |
BKFGJPLC_00054 |
55625 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
228C>T |
Val76Val |
M0072837 |
BKFGJPLC_00054 |
55628 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
225T>C |
Tyr75Tyr |
M0072838 |
BKFGJPLC_00054 |
55652 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
201A>T |
Gly67Gly |
M0072839 |
BKFGJPLC_00053 |
55868 |
6 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1806T>A |
None |
M0072840 |
BKFGJPLC_00053 |
55874 |
6 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1812T>A |
None |
M0072841 |
BKFGJPLC_00053 |
55881 |
6 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1819A>T |
None |
M0072842 |
BKFGJPLC_00053 |
55885 |
6 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1823A>T |
None |
M0072843 |
BKFGJPLC_00053 |
56044 |
6 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1982T>C |
None |
M0072844 |
BKFGJPLC_00055 |
56141 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
96G>C |
Thr32Thr |
M0072845 |
BKFGJPLC_00055 |
56502 |
6 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
457G>A |
Ala153Thr |
M0072846 |
BKFGJPLC_00053 |
56634 |
5 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2572C>T |
None |
M0072847 |
BKFGJPLC_00053 |
56678 |
8 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2616G>A |
None |
M0072848 |
BKFGJPLC_00053 |
56682 |
5 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2620G>T |
None |
M0072849 |
BKFGJPLC_00053 |
56691 |
5 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2629T>A |
None |
M0072850 |
BKFGJPLC_00056 |
56761 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1116A>G |
Pro372Pro |
M0072851 |
BKFGJPLC_00056 |
56767 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1110G>T |
Thr370Thr |
M0072852 |
BKFGJPLC_00056 |
56797 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1080T>C |
His360His |
M0072853 |
BKFGJPLC_00056 |
56845 |
11 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1032C>T |
Asn344Asn |
M0072854 |
BKFGJPLC_00056 |
56926 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
951A>G |
Val317Val |
M0072855 |
BKFGJPLC_00056 |
56949 |
12 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
928G>A |
Glu310Lys |
M0072856 |
BKFGJPLC_00056 |
56950 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
927C>T |
Arg309Arg |
M0072857 |
BKFGJPLC_00056 |
57054 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
823C>T |
His275Tyr |
M0072858 |
BKFGJPLC_00056 |
57058 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
819A>G |
Gln273Gln |
M0072859 |
BKFGJPLC_00056 |
57064 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
813C>T |
Asn271Asn |
M0072860 |
BKFGJPLC_00056 |
57136 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
741A>C |
Pro247Pro |
M0072861 |
BKFGJPLC_00056 |
57270 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
607T>G |
Ser203Ala |
M0072862 |
BKFGJPLC_00056 |
57360 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
517C>T |
His173Tyr |
M0072863 |
BKFGJPLC_00056 |
57427 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
450C>T |
Ser150Ser |
M0072864 |
BKFGJPLC_00056 |
57451 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
426A>G |
Ala142Ala |
M0072865 |
BKFGJPLC_00056 |
57454 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
423C>T |
Ala141Ala |
M0072866 |
BKFGJPLC_00056 |
57485 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
392C>T |
Thr131Ile |
M0072867 |
BKFGJPLC_00056 |
57486 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
391A>G |
Thr131Ala |
M0072868 |
BKFGJPLC_00056 |
57639 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
238C>A |
Leu80Ile |
M0072869 |
BKFGJPLC_00056 |
57768 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
109G>A |
Gly37Ser |
M0072870 |
BKFGJPLC_00053 |
57967 |
5 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3905A>G |
None |
M0072871 |
BKFGJPLC_00053 |
57995 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3933T>C |
None |
M0072872 |
BKFGJPLC_00053 |
58017 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3955C>T |
None |
M0072873 |
BKFGJPLC_00053 |
58035 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3973A>G |
None |
M0072874 |
BKFGJPLC_00057 |
58117 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1065G>A |
Lys355Lys |
M0072875 |
BKFGJPLC_00057 |
58129 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1053A>G |
Lys351Lys |
M0072876 |
BKFGJPLC_00057 |
58465 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
717T>G |
Asp239Glu |
M0072877 |
BKFGJPLC_00057 |
58531 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
651C>T |
Tyr217Tyr |
M0072878 |
BKFGJPLC_00057 |
58867 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
315C>T |
Leu105Leu |
M0072879 |
BKFGJPLC_00057 |
59053 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
129A>G |
Ile43Met |
M0072880 |
BKFGJPLC_00057 |
59065 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
117T>C |
Asn39Asn |
M0072881 |
BKFGJPLC_00057 |
59080 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
102A>C |
Lys34Asn |
M0072882 |
BKFGJPLC_00058 |
59435 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
765G>A |
Ser255Ser |
M0072883 |
BKFGJPLC_00058 |
59440 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
760G>T |
Asp254Tyr |
M0072884 |
BKFGJPLC_00058 |
59486 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
714T>A |
Ala238Ala |
M0072885 |
BKFGJPLC_00058 |
59489 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
711C>G |
Gly237Gly |
M0072886 |
BKFGJPLC_00058 |
59495 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
705C>A |
Thr235Thr |
M0072887 |
BKFGJPLC_00058 |
59519 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
681A>T |
Gly227Gly |
M0072888 |
BKFGJPLC_00058 |
59533 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
667A>G |
Ile223Val |
M0072889 |
BKFGJPLC_00058 |
59542 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
658T>A |
Leu220Ile |
M0072890 |
BKFGJPLC_00058 |
59561 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
639T>C |
Gly213Gly |
M0072891 |
BKFGJPLC_00058 |
59564 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
636A>G |
Leu212Leu |
M0072892 |
BKFGJPLC_00058 |
59587 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
613T>C |
Leu205Leu |
M0072893 |
BKFGJPLC_00058 |
59609 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
591G>T |
Ala197Ala |
M0072894 |
BKFGJPLC_00058 |
59615 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
585T>A |
Asp195Glu |
M0072895 |
BKFGJPLC_00058 |
59666 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
534T>C |
Tyr178Tyr |
M0072896 |
BKFGJPLC_00058 |
59672 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
528A>G |
Val176Val |
M0072897 |
BKFGJPLC_00058 |
60006 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
194T>C |
Met65Thr |
M0072898 |
BKFGJPLC_00058 |
60086 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
114C>T |
Gly38Gly |
M0072899 |
BKFGJPLC_00058 |
60188 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
12A>T |
Ile4Ile |
M0072900 |
BKFGJPLC_00054 |
60282 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4430A>G |
None |
M0072901 |
BKFGJPLC_00059 |
60459 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
762T>C |
Gly254Gly |
M0072902 |
BKFGJPLC_00059 |
60477 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
744T>C |
Ile248Ile |
M0072903 |
BKFGJPLC_00059 |
60501 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
720G>A |
Thr240Thr |
M0072904 |
BKFGJPLC_00059 |
60504 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
717G>A |
Ala239Ala |
M0072905 |
BKFGJPLC_00059 |
60555 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
666T>G |
Thr222Thr |
M0072906 |
BKFGJPLC_00059 |
60723 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
498C>G |
Ile166Met |
M0072907 |
BKFGJPLC_00059 |
60939 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
282A>G |
Val94Val |
M0072908 |
BKFGJPLC_00059 |
60957 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
264T>C |
Asn88Asn |
M0072909 |
BKFGJPLC_00059 |
60962 |
6 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
259G>A |
Val87Met |
M0072910 |
BKFGJPLC_00059 |
60970 |
6 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
251C>T |
Ala84Val |
M0072911 |
BKFGJPLC_00059 |
60984 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
237G>A |
Ala79Ala |
M0072912 |
BKFGJPLC_00059 |
61037 |
6 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
184G>A |
Val62Ile |
M0072913 |
BKFGJPLC_00059 |
61061 |
6 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
160C>T |
His54Tyr |
M0072914 |
BKFGJPLC_00059 |
61073 |
6 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
148A>G |
Ile50Val |
M0072915 |
BKFGJPLC_00059 |
61097 |
6 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
124A>G |
Thr42Ala |
M0072916 |
BKFGJPLC_00059 |
61101 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
120A>G |
Gly40Gly |
M0072917 |
BKFGJPLC_00059 |
61112 |
6 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
109A>G |
Ile37Val |
M0072918 |
BKFGJPLC_00059 |
61113 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
108G>A |
Lys36Lys |
M0072919 |
BKFGJPLC_00059 |
61140 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
81G>T |
Leu27Leu |
M0072920 |
BKFGJPLC_00056 |
61312 |
8 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3436C>A |
None |
M0072921 |
BKFGJPLC_00060 |
61639 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
219T>C |
Val73Val |
M0072922 |
BKFGJPLC_00060 |
61705 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
285T>C |
Ile95Ile |
M0072923 |
BKFGJPLC_00056 |
61733 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3857A>T |
None |
M0072924 |
BKFGJPLC_00061 |
61773 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
37G>A |
Val13Ile |
M0072925 |
BKFGJPLC_00061 |
61875 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
139A>G |
Lys47Glu |
M0072926 |
BKFGJPLC_00061 |
61895 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
159T>G |
Arg53Arg |
M0072927 |
BKFGJPLC_00061 |
61931 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
195C>T |
Ala65Ala |
M0072928 |
BKFGJPLC_00061 |
61946 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
210C>T |
Arg70Arg |
M0072929 |
BKFGJPLC_00061 |
61958 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
222C>T |
Gly74Gly |
M0072930 |
BKFGJPLC_00061 |
61961 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
225C>T |
Asp75Asp |
M0072931 |
BKFGJPLC_00061 |
62002 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
266G>A |
Arg89Lys |
M0072932 |
BKFGJPLC_00061 |
62016 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
280C>A |
Arg94Ser |
M0072933 |
BKFGJPLC_00061 |
62018 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
282C>A |
Arg94Arg |
M0072934 |
BKFGJPLC_00061 |
62070 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
334A>G |
Lys112Glu |
M0072935 |
BKFGJPLC_00062 |
62335 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
192C>T |
Arg64Arg |
M0072936 |
BKFGJPLC_00062 |
62440 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
297A>C |
Ala99Ala |
M0072937 |
BKFGJPLC_00062 |
62476 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
333T>C |
Asn111Asn |
M0072938 |
BKFGJPLC_00062 |
62515 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
372A>T |
Ser124Ser |
M0072939 |
BKFGJPLC_00062 |
62557 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
414C>T |
His138His |
M0072940 |
BKFGJPLC_00062 |
62650 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
507T>A |
Ala169Ala |
M0072941 |
BKFGJPLC_00062 |
62677 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
534A>T |
Pro178Pro |
M0072942 |
BKFGJPLC_00062 |
62681 |
6 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
538T>C |
Tyr180His |
M0072943 |
BKFGJPLC_00062 |
62686 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
543T>C |
Ile181Ile |
M0072944 |
BKFGJPLC_00062 |
62696 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
553T>C |
Leu185Leu |
M0072945 |
BKFGJPLC_00062 |
62746 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
603G>A |
Gly201Gly |
M0072946 |
BKFGJPLC_00062 |
62800 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
657C>T |
Gly219Gly |
M0072947 |
BKFGJPLC_00062 |
62968 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
825T>C |
Tyr275Tyr |
M0072948 |
BKFGJPLC_00062 |
62986 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
843T>C |
Gly281Gly |
M0072949 |
BKFGJPLC_00062 |
63040 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
897G>T |
Pro299Pro |
M0072950 |
BKFGJPLC_00062 |
63097 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
954C>T |
Asp318Asp |
M0072951 |
BKFGJPLC_00017 |
14561 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
546T>C |
His182His |
M0072952 |
BKFGJPLC_00017 |
14639 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
468A>T |
Ile156Ile |
M0072953 |
BKFGJPLC_00017 |
14656 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
451C>A |
Gln151Lys |
M0072954 |
BKFGJPLC_00017 |
14662 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
445A>G |
Asn149Asp |
M0072955 |
BKFGJPLC_00017 |
14693 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
414C>T |
Phe138Phe |
M0072956 |
BKFGJPLC_00017 |
14717 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
390C>T |
Phe130Phe |
M0072957 |
BKFGJPLC_00017 |
14735 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
372T>G |
Gly124Gly |
M0072958 |
BKFGJPLC_00017 |
14838 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
269G>A |
Ser90Asn |
M0072959 |
BKFGJPLC_00017 |
14858 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
249G>A |
Ala83Ala |
M0072960 |
BKFGJPLC_00017 |
14864 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
243C>T |
Gly81Gly |
M0072961 |
BKFGJPLC_00017 |
14900 |
8 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
207C>G |
His69Gln |
M0072962 |
BKFGJPLC_00017 |
14990 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
117A>G |
Leu39Leu |
M0072963 |
BKFGJPLC_00017 |
14993 |
8 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
114A>T |
Pro38Pro |
M0072964 |
BKFGJPLC_00017 |
15002 |
8 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
105A>T |
Pro35Pro |
M0072965 |
BKFGJPLC_00018 |
15336 |
9 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1143G>T |
Gly381Gly |
M0072966 |
BKFGJPLC_00018 |
15465 |
8 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1014C>T |
Gly338Gly |
M0072967 |
BKFGJPLC_00018 |
15502 |
9 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
977T>C |
Val326Ala |
M0072968 |
BKFGJPLC_00018 |
15507 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
972C>T |
Ala324Ala |
M0072969 |
BKFGJPLC_00018 |
15831 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
648A>T |
Gly216Gly |
M0072970 |
BKFGJPLC_00018 |
15867 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
612A>G |
Val204Val |
M0072971 |
BKFGJPLC_00018 |
15870 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
609G>A |
Pro203Pro |
M0072972 |
BKFGJPLC_00018 |
15915 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
564A>G |
Thr188Thr |
M0072973 |
BKFGJPLC_00018 |
15945 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
534T>C |
Arg178Arg |
M0072974 |
BKFGJPLC_00018 |
15951 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
528C>T |
Tyr176Tyr |
M0072975 |
BKFGJPLC_00018 |
15957 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
522C>T |
Arg174Arg |
M0072976 |
BKFGJPLC_00018 |
15963 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
516T>C |
Ile172Ile |
M0072977 |
BKFGJPLC_00018 |
15966 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
513A>G |
Ser171Ser |
M0072978 |
BKFGJPLC_00018 |
15972 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
507G>T |
Gly169Gly |
M0072979 |
BKFGJPLC_00018 |
15981 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
498A>T |
Ile166Ile |
M0072980 |
BKFGJPLC_00018 |
15984 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
495A>T |
Ser165Ser |
M0072981 |
BKFGJPLC_00018 |
15985 |
4 |
Skin |
0.05 |
protein_coding |
stop_gained |
HIGH |
494C>G |
Ser165* |
M0072982 |
BKFGJPLC_00018 |
15986 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
493T>A |
Ser165Thr |
M0072983 |
BKFGJPLC_00018 |
15987 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
492C>G |
Ala164Ala |
M0072984 |
BKFGJPLC_00018 |
16017 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
462C>T |
Pro154Pro |
M0072985 |
BKFGJPLC_00018 |
16038 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
441C>A |
Pro147Pro |
M0072986 |
BKFGJPLC_00018 |
16071 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
408A>G |
Thr136Thr |
M0072987 |
BKFGJPLC_00018 |
16176 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
303T>A |
Gly101Gly |
M0072988 |
BKFGJPLC_00018 |
16218 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
261T>G |
Phe87Leu |
M0072989 |
BKFGJPLC_00018 |
16232 |
6 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
247A>G |
Ile83Val |
M0072990 |
BKFGJPLC_00018 |
16294 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
185G>A |
Ser62Asn |
M0072991 |
BKFGJPLC_00016 |
16562 |
10 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2640C>T |
None |
M0072992 |
BKFGJPLC_00019 |
16958 |
9 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
299A>C |
Asn100Thr |
M0072993 |
BKFGJPLC_00019 |
17158 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
99C>A |
Ala33Ala |
M0072994 |
BKFGJPLC_00019 |
17167 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
90A>G |
Gln30Gln |
M0072995 |
BKFGJPLC_00019 |
17224 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
33G>A |
Thr11Thr |
M0072996 |
BKFGJPLC_00019 |
17232 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
25G>A |
Val9Ile |
M0072997 |
BKFGJPLC_00020 |
17798 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
211C>A |
Arg71Arg |
M0072998 |
BKFGJPLC_00021 |
18338 |
10 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
216C>A |
Ile72Ile |
M0072999 |
BKFGJPLC_00016 |
18686 |
5 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4764G>T |
None |
M0073000 |
BKFGJPLC_00022 |
18795 |
8 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
55A>G |
Ile19Val |
M0073001 |
BKFGJPLC_00022 |
18980 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
240A>G |
Gln80Gln |
M0073002 |
BKFGJPLC_00022 |
19232 |
10 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
492C>T |
Arg164Arg |
M0073003 |
BKFGJPLC_00023 |
19870 |
8 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
2277G>A |
Val759Val |
M0073004 |
BKFGJPLC_00023 |
19882 |
8 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
2265T>C |
Ala755Ala |
M0073005 |
BKFGJPLC_00023 |
19885 |
8 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
2262C>T |
Gly754Gly |
M0073006 |
BKFGJPLC_00023 |
20029 |
13 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
2118G>T |
Leu706Leu |
M0073007 |
BKFGJPLC_00023 |
20161 |
11 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1986A>G |
Gln662Gln |
M0073008 |
BKFGJPLC_00023 |
20415 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1732A>G |
Asn578Asp |
M0073009 |
BKFGJPLC_00023 |
20425 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1722T>C |
Asp574Asp |
M0073010 |
BKFGJPLC_00023 |
20427 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1720G>C |
Asp574His |
M0073011 |
BKFGJPLC_00023 |
20488 |
8 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1659T>C |
Val553Val |
M0073012 |
BKFGJPLC_00023 |
20544 |
6 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1603C>A |
His535Asn |
M0073013 |
BKFGJPLC_00023 |
20872 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1275T>C |
Val425Val |
M0073014 |
BKFGJPLC_00023 |
21556 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
591C>A |
Val197Val |
M0073015 |
BKFGJPLC_00021 |
22288 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3735A>G |
None |
M0073016 |
BKFGJPLC_00024 |
22600 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
190C>T |
Pro64Ser |
M0073017 |
BKFGJPLC_00024 |
22990 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
580A>C |
Ser194Arg |
M0073018 |
BKFGJPLC_00024 |
23315 |
8 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
905T>C |
Ile302Thr |
M0073019 |
BKFGJPLC_00024 |
23430 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1020C>A |
Thr340Thr |
M0073020 |
BKFGJPLC_00024 |
23635 |
8 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1225A>G |
Asn409Asp |
M0073021 |
BKFGJPLC_00024 |
23676 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1266C>T |
Asn422Asn |
M0073022 |
BKFGJPLC_00070 |
71468 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
771T>C |
Ala257Ala |
M0073023 |
BKFGJPLC_00070 |
71601 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
904C>A |
Gln302Lys |
M0073024 |
BKFGJPLC_00070 |
71624 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
927C>A |
Leu309Leu |
M0073025 |
BKFGJPLC_00070 |
71627 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
930G>T |
Met310Ile |
M0073026 |
BKFGJPLC_00070 |
71706 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1009G>A |
Ala337Thr |
M0073027 |
BKFGJPLC_00070 |
71748 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1051A>G |
Ile351Val |
M0073028 |
BKFGJPLC_00070 |
71780 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1083T>A |
Ser361Ser |
M0073029 |
BKFGJPLC_00070 |
71826 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1129A>G |
Ser377Gly |
M0073030 |
BKFGJPLC_00070 |
71850 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1153G>A |
Val385Ile |
M0073031 |
BKFGJPLC_00070 |
71872 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1175C>T |
Thr392Ile |
M0073032 |
BKFGJPLC_00070 |
71876 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1179A>G |
Ala393Ala |
M0073033 |
BKFGJPLC_00071 |
72381 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
474T>A |
Asp158Glu |
M0073034 |
BKFGJPLC_00071 |
72384 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
477T>A |
Gly159Gly |
M0073035 |
BKFGJPLC_00071 |
72387 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
480C>T |
Arg160Arg |
M0073036 |
BKFGJPLC_00071 |
72417 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
510G>A |
Val170Val |
M0073037 |
BKFGJPLC_00071 |
72467 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
560T>A |
Phe187Tyr |
M0073038 |
BKFGJPLC_00071 |
72585 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
678A>C |
Arg226Arg |
M0073039 |
BKFGJPLC_00071 |
72616 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
709A>G |
Asn237Asp |
M0073040 |
BKFGJPLC_00071 |
72696 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
789A>T |
Ser263Ser |
M0073041 |
BKFGJPLC_00071 |
72732 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
825T>C |
Val275Val |
M0073042 |
BKFGJPLC_00071 |
72777 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
870G>T |
Ser290Ser |
M0073043 |
BKFGJPLC_00071 |
72801 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
894T>C |
Leu298Leu |
M0073044 |
BKFGJPLC_00071 |
72858 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
951G>A |
Gly317Gly |
M0073045 |
BKFGJPLC_00071 |
72861 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
954A>G |
Leu318Leu |
M0073046 |
BKFGJPLC_00071 |
72879 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
972T>C |
Asn324Asn |
M0073047 |
BKFGJPLC_00071 |
72881 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
974A>G |
Asp325Gly |
M0073048 |
BKFGJPLC_00071 |
72882 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
975C>A |
Asp325Glu |
M0073049 |
BKFGJPLC_00067 |
72922 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4708A>G |
None |
M0073050 |
BKFGJPLC_00067 |
72926 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4712A>C |
None |
M0073051 |
BKFGJPLC_00067 |
72941 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4727C>T |
None |
M0073052 |
BKFGJPLC_00072 |
73049 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
696A>G |
Val232Val |
M0073053 |
BKFGJPLC_00072 |
73069 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
676A>C |
Lys226Gln |
M0073054 |
BKFGJPLC_00072 |
73085 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
660G>A |
Gly220Gly |
M0073055 |
BKFGJPLC_00072 |
73127 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
618T>A |
Pro206Pro |
M0073056 |
BKFGJPLC_00072 |
73147 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
598T>C |
Leu200Leu |
M0073057 |
BKFGJPLC_00072 |
73538 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
207A>G |
Leu69Leu |
M0073058 |
BKFGJPLC_00068 |
73918 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4545C>A |
None |
M0073059 |
BKFGJPLC_00073 |
74145 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
219T>C |
Phe73Phe |
M0073060 |
BKFGJPLC_00073 |
74358 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
432A>G |
Val144Val |
M0073061 |
BKFGJPLC_00073 |
74390 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
464T>A |
Phe155Tyr |
M0073062 |
BKFGJPLC_00073 |
74424 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
498T>G |
Val166Val |
M0073063 |
BKFGJPLC_00073 |
74470 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
544C>A |
Leu182Met |
M0073064 |
BKFGJPLC_00073 |
74497 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
571A>C |
Ile191Leu |
M0073065 |
BKFGJPLC_00073 |
74528 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
602T>A |
Leu201His |
M0073066 |
BKFGJPLC_00073 |
74533 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
607A>G |
Asn203Asp |
M0073067 |
BKFGJPLC_00072 |
74624 |
5 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-880G>A |
None |
M0073068 |
BKFGJPLC_00074 |
75488 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
735G>A |
Glu245Glu |
M0073069 |
BKFGJPLC_00074 |
75815 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1062A>T |
Leu354Leu |
M0073070 |
BKFGJPLC_00074 |
76032 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1279G>A |
Asp427Asn |
M0073071 |
BKFGJPLC_00074 |
76040 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1287C>T |
Pro429Pro |
M0073072 |
BKFGJPLC_00074 |
76043 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1290T>C |
Gly430Gly |
M0073073 |
BKFGJPLC_00074 |
76072 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1319C>A |
Thr440Lys |
M0073074 |
BKFGJPLC_00074 |
76138 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1385C>T |
Ser462Leu |
M0073075 |
BKFGJPLC_00074 |
76149 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1396A>G |
Asn466Asp |
M0073076 |
BKFGJPLC_00074 |
76157 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1404G>A |
Gln468Gln |
M0073077 |
BKFGJPLC_00074 |
76172 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1419A>G |
Pro473Pro |
M0073078 |
BKFGJPLC_00074 |
76211 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1458A>G |
Lys486Lys |
M0073079 |
BKFGJPLC_00074 |
76232 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1479A>G |
Ser493Ser |
M0073080 |
BKFGJPLC_00075 |
76383 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
102G>A |
Ala34Ala |
M0073081 |
BKFGJPLC_00075 |
76458 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
177A>G |
Gly59Gly |
M0073082 |
BKFGJPLC_00075 |
76495 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
214T>C |
Leu72Leu |
M0073083 |
BKFGJPLC_00075 |
76500 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
219C>T |
Gly73Gly |
M0073084 |
BKFGJPLC_00075 |
76515 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
234C>A |
Gly78Gly |
M0073085 |
BKFGJPLC_00075 |
76557 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
276C>T |
Asp92Asp |
M0073086 |
BKFGJPLC_00075 |
76653 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
372G>A |
Gly124Gly |
M0073087 |
BKFGJPLC_00075 |
76679 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
398T>C |
Ile133Thr |
M0073088 |
BKFGJPLC_00075 |
76691 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
410G>A |
Arg137His |
M0073089 |
BKFGJPLC_00075 |
76809 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
528T>C |
Phe176Phe |
M0073090 |
BKFGJPLC_00075 |
76836 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
555A>G |
Leu185Leu |
M0073091 |
BKFGJPLC_00075 |
76863 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
582C>T |
Leu194Leu |
M0073092 |
BKFGJPLC_00075 |
76879 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
598G>A |
Glu200Lys |
M0073093 |
BKFGJPLC_00075 |
76896 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
615T>G |
Asn205Lys |
M0073094 |
BKFGJPLC_00076 |
77244 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
14A>G |
His5Arg |
M0073095 |
BKFGJPLC_00076 |
77261 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
31G>A |
Ala11Thr |
M0073096 |
BKFGJPLC_00076 |
77263 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
33A>G |
Ala11Ala |
M0073097 |
BKFGJPLC_00076 |
77267 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
37A>G |
Ile13Val |
M0073098 |
BKFGJPLC_00076 |
77277 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
47C>T |
Ala16Val |
M0073099 |
BKFGJPLC_00076 |
77279 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
49G>A |
Val17Ile |
M0073100 |
BKFGJPLC_00076 |
77292 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
62C>T |
Ala21Val |
M0073101 |
BKFGJPLC_00076 |
77341 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
111C>T |
Pro37Pro |
M0073102 |
BKFGJPLC_00076 |
77473 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
243C>T |
Ile81Ile |
M0073103 |
BKFGJPLC_00076 |
77696 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
466G>A |
Val156Ile |
M0073104 |
BKFGJPLC_00076 |
77705 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
475G>A |
Ala159Thr |
M0073105 |
BKFGJPLC_00076 |
77770 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
540T>C |
Ser180Ser |
M0073106 |
BKFGJPLC_00077 |
78201 |
10 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
237A>G |
Thr79Thr |
M0073107 |
BKFGJPLC_00077 |
78315 |
9 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
351G>A |
Gln117Gln |
M0073108 |
BKFGJPLC_00077 |
78496 |
9 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
532C>A |
His178Asn |
M0073109 |
BKFGJPLC_00079 |
79504 |
5 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2C>T |
None |
M0073110 |
BKFGJPLC_00079 |
80009 |
9 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
504C>T |
Leu168Leu |
M0073111 |
BKFGJPLC_00079 |
80069 |
9 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
564A>G |
Glu188Glu |
M0073112 |
BKFGJPLC_00079 |
80072 |
8 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
567G>A |
Thr189Thr |
M0073113 |
BKFGJPLC_00079 |
80093 |
9 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
588C>T |
Phe196Phe |
M0073114 |
BKFGJPLC_00079 |
80114 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
609C>T |
Ser203Ser |
M0073115 |
BKFGJPLC_00079 |
80126 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
621T>C |
Phe207Phe |
M0073116 |
BKFGJPLC_00079 |
80132 |
8 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
627C>T |
Ser209Ser |
M0073117 |
BKFGJPLC_00079 |
80156 |
9 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
651T>A |
Val217Val |
M0073118 |
BKFGJPLC_00079 |
80159 |
9 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
654G>T |
Ala218Ala |
M0073119 |
BKFGJPLC_00079 |
80162 |
9 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
657C>T |
Val219Val |
M0073120 |
BKFGJPLC_00079 |
80176 |
8 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
671T>C |
Ile224Thr |
M0073121 |
BKFGJPLC_00079 |
80182 |
9 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
677G>C |
Gly226Ala |
M0073122 |
BKFGJPLC_00079 |
80187 |
9 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
682G>A |
Val228Met |
M0073123 |
BKFGJPLC_00079 |
80189 |
9 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
684G>T |
Val228Val |
M0073124 |
BKFGJPLC_00079 |
80192 |
9 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
687C>T |
Phe229Phe |
M0073125 |
BKFGJPLC_00079 |
80258 |
8 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
753T>C |
Gly251Gly |
M0073126 |
BKFGJPLC_00079 |
80261 |
9 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
756A>G |
Val252Val |
M0073127 |
BKFGJPLC_00084 |
80315 |
9 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4483G>T |
None |
M0073128 |
BKFGJPLC_00084 |
80321 |
5 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4477T>A |
None |
M0073129 |
BKFGJPLC_00084 |
80344 |
5 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4454T>C |
None |
M0073130 |
BKFGJPLC_00084 |
80364 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4434A>T |
None |
M0073131 |
BKFGJPLC_00084 |
80384 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4414G>A |
None |
M0073132 |
BKFGJPLC_00084 |
80389 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4409T>C |
None |
M0073133 |
BKFGJPLC_00080 |
80415 |
4 |
Skin |
0.05 |
protein_coding |
splice_region_variant&stop_retained_variant |
LOW |
686G>A |
Ter229Ter |
M0073134 |
BKFGJPLC_00080 |
80450 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
651A>G |
Thr217Thr |
M0073135 |
BKFGJPLC_00080 |
80452 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
649A>G |
Thr217Ala |
M0073136 |
BKFGJPLC_00080 |
80486 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
615C>A |
Ala205Ala |
M0073137 |
BKFGJPLC_00080 |
80505 |
8 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
596A>G |
Gln199Arg |
M0073138 |
BKFGJPLC_00080 |
80524 |
4 |
Skin |
0.05 |
protein_coding |
stop_gained |
HIGH |
577C>T |
Gln193* |
M0073139 |
BKFGJPLC_00080 |
80528 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
573A>G |
Lys191Lys |
M0073140 |
BKFGJPLC_00080 |
80585 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
516C>A |
Ile172Ile |
M0073141 |
BKFGJPLC_00080 |
80660 |
8 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
441T>C |
Asp147Asp |
M0073142 |
BKFGJPLC_00080 |
80682 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
419A>G |
Asn140Ser |
M0073143 |
BKFGJPLC_00080 |
80697 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
404C>G |
Ala135Gly |
M0073144 |
BKFGJPLC_00080 |
80718 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
383A>C |
Asn128Thr |
M0073145 |
BKFGJPLC_00080 |
80735 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
366G>A |
Lys122Lys |
M0073146 |
BKFGJPLC_00080 |
80747 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
354C>T |
Asn118Asn |
M0073147 |
BKFGJPLC_00080 |
80750 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
351G>A |
Ala117Ala |
M0073148 |
BKFGJPLC_00080 |
80751 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
350C>T |
Ala117Val |
M0073149 |
BKFGJPLC_00080 |
80759 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
342C>T |
Asn114Asn |
M0073150 |
BKFGJPLC_00025 |
24991 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1254C>A |
Gly418Gly |
M0073151 |
BKFGJPLC_00025 |
24998 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1247C>T |
Ala416Val |
M0073152 |
BKFGJPLC_00025 |
25009 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1236C>T |
Leu412Leu |
M0073153 |
BKFGJPLC_00025 |
25276 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
969C>A |
Pro323Pro |
M0073154 |
BKFGJPLC_00025 |
25335 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
910A>G |
Ser304Gly |
M0073155 |
BKFGJPLC_00025 |
25362 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
883C>A |
Arg295Arg |
M0073156 |
BKFGJPLC_00025 |
25504 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
741C>A |
Thr247Thr |
M0073157 |
BKFGJPLC_00025 |
25528 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
717C>T |
Ile239Ile |
M0073158 |
BKFGJPLC_00025 |
25552 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
693A>C |
Thr231Thr |
M0073159 |
BKFGJPLC_00025 |
25585 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
660C>T |
Phe220Phe |
M0073160 |
BKFGJPLC_00025 |
25594 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
651G>A |
Gly217Gly |
M0073161 |
BKFGJPLC_00025 |
25609 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
636C>T |
Ser212Ser |
M0073162 |
BKFGJPLC_00025 |
25633 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
612C>T |
Ile204Ile |
M0073163 |
BKFGJPLC_00025 |
25644 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
601T>C |
Leu201Leu |
M0073164 |
BKFGJPLC_00025 |
25645 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
600G>T |
Val200Val |
M0073165 |
BKFGJPLC_00025 |
25711 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
534C>T |
Ser178Ser |
M0073166 |
BKFGJPLC_00025 |
25984 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
261G>A |
Lys87Lys |
M0073167 |
BKFGJPLC_00025 |
25999 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
246C>T |
Asp82Asp |
M0073168 |
BKFGJPLC_00025 |
26040 |
6 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
205A>C |
Asn69His |
M0073169 |
BKFGJPLC_00025 |
26079 |
6 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
166C>A |
His56Asn |
M0073170 |
BKFGJPLC_00025 |
26155 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
90T>A |
Ile30Ile |
M0073171 |
BKFGJPLC_00023 |
26358 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4212G>A |
None |
M0073172 |
BKFGJPLC_00026 |
26567 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2196T>C |
Gly732Gly |
M0073173 |
BKFGJPLC_00026 |
27077 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1686C>T |
Asn562Asn |
M0073174 |
BKFGJPLC_00026 |
27185 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1578T>G |
Gly526Gly |
M0073175 |
BKFGJPLC_00026 |
27248 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1515A>C |
Val505Val |
M0073176 |
BKFGJPLC_00026 |
27249 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1514T>C |
Val505Ala |
M0073177 |
BKFGJPLC_00026 |
27284 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1479A>C |
Gly493Gly |
M0073178 |
BKFGJPLC_00026 |
27302 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1461C>T |
Ile487Ile |
M0073179 |
BKFGJPLC_00026 |
27320 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1443A>G |
Glu481Glu |
M0073180 |
BKFGJPLC_00026 |
27331 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1432C>A |
Pro478Thr |
M0073181 |
BKFGJPLC_00026 |
27332 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1431A>T |
Ala477Ala |
M0073182 |
BKFGJPLC_00026 |
27356 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1407C>T |
Ile469Ile |
M0073183 |
BKFGJPLC_00026 |
27368 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1395G>A |
Thr465Thr |
M0073184 |
BKFGJPLC_00026 |
27380 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1383G>A |
Leu461Leu |
M0073185 |
BKFGJPLC_00026 |
27392 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1371G>A |
Gln457Gln |
M0073186 |
BKFGJPLC_00026 |
27422 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1341T>C |
Asp447Asp |
M0073187 |
BKFGJPLC_00026 |
27428 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1335A>G |
Gln445Gln |
M0073188 |
BKFGJPLC_00026 |
27431 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1332A>G |
Gly444Gly |
M0073189 |
BKFGJPLC_00026 |
27455 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1308A>C |
Ile436Ile |
M0073190 |
BKFGJPLC_00026 |
27476 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1287C>T |
Ser429Ser |
M0073191 |
BKFGJPLC_00026 |
27496 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1267G>A |
Val423Ile |
M0073192 |
BKFGJPLC_00026 |
27509 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1254T>C |
Arg418Arg |
M0073193 |
BKFGJPLC_00026 |
27524 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1239C>G |
Val413Val |
M0073194 |
BKFGJPLC_00026 |
27581 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1182T>C |
Thr394Thr |
M0073195 |
BKFGJPLC_00026 |
27751 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1012G>A |
Ala338Thr |
M0073196 |
BKFGJPLC_00026 |
27765 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
998G>A |
Arg333His |
M0073197 |
BKFGJPLC_00026 |
27779 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
984T>C |
Phe328Phe |
M0073198 |
BKFGJPLC_00026 |
27785 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
978T>C |
His326His |
M0073199 |
BKFGJPLC_00026 |
27790 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
973T>C |
Tyr325His |
M0073200 |
BKFGJPLC_00026 |
27848 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
915T>G |
Asp305Glu |
M0073201 |
BKFGJPLC_00026 |
27856 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
907G>A |
Val303Ile |
M0073202 |
BKFGJPLC_00026 |
27866 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
897C>A |
Ser299Ser |
M0073203 |
BKFGJPLC_00026 |
27877 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
886A>C |
Asn296His |
M0073204 |
BKFGJPLC_00026 |
27884 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
879C>T |
Asp293Asp |
M0073205 |
BKFGJPLC_00026 |
27886 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
877G>A |
Asp293Asn |
M0073206 |
BKFGJPLC_00026 |
27909 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
854C>T |
Thr285Ile |
M0073207 |
BKFGJPLC_00026 |
28052 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
711T>G |
Thr237Thr |
M0073208 |
BKFGJPLC_00026 |
28105 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
658G>A |
Val220Met |
M0073209 |
BKFGJPLC_00026 |
28130 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
633T>C |
Pro211Pro |
M0073210 |
BKFGJPLC_00026 |
28190 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
573T>C |
Ser191Ser |
M0073211 |
BKFGJPLC_00026 |
28195 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
568A>G |
Lys190Glu |
M0073212 |
BKFGJPLC_00027 |
29054 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
439A>G |
Asn147Asp |
M0073213 |
BKFGJPLC_00027 |
29334 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
159A>G |
Leu53Leu |
M0073214 |
BKFGJPLC_00027 |
29361 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
132A>G |
Gly44Gly |
M0073215 |
BKFGJPLC_00027 |
29373 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
120T>C |
Tyr40Tyr |
M0073216 |
BKFGJPLC_00027 |
29394 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
99G>A |
Gln33Gln |
M0073217 |
BKFGJPLC_00027 |
29406 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
87A>C |
Pro29Pro |
M0073218 |
BKFGJPLC_00025 |
29579 |
8 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3335T>A |
None |
M0073219 |
BKFGJPLC_00025 |
29596 |
5 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3352C>A |
None |
M0073220 |
BKFGJPLC_00025 |
29707 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3463G>A |
None |
M0073221 |
BKFGJPLC_00028 |
30012 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
264C>T |
Ser88Ser |
M0073222 |
BKFGJPLC_00028 |
30030 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
282A>C |
Arg94Arg |
M0073223 |
BKFGJPLC_00028 |
30093 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
345C>T |
His115His |
M0073224 |
BKFGJPLC_00028 |
30498 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
750C>T |
Asn250Asn |
M0073225 |
BKFGJPLC_00025 |
30635 |
5 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4391A>G |
None |
M0073226 |
BKFGJPLC_00025 |
30739 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4495G>T |
None |
M0073227 |
BKFGJPLC_00025 |
30820 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4576T>C |
None |
M0073228 |
BKFGJPLC_00025 |
31055 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4811G>T |
None |
M0073229 |
BKFGJPLC_00030 |
31930 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
677T>C |
Val226Ala |
M0073230 |
BKFGJPLC_00030 |
33012 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1759A>G |
Ser587Gly |
M0073231 |
BKFGJPLC_00030 |
33335 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2082T>C |
Ile694Ile |
M0073232 |
BKFGJPLC_00031 |
34214 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
376A>G |
Asn126Asp |
M0073233 |
BKFGJPLC_00031 |
34571 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
733T>C |
Leu245Leu |
M0073234 |
BKFGJPLC_00032 |
34893 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-71A>G |
None |
M0073235 |
BKFGJPLC_00032 |
34935 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-29T>G |
None |
M0073236 |
BKFGJPLC_00033 |
35885 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1131T>C |
Ala377Ala |
M0073237 |
BKFGJPLC_00033 |
35901 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1115T>C |
Val372Ala |
M0073238 |
BKFGJPLC_00033 |
35909 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1107G>A |
Met369Ile |
M0073239 |
BKFGJPLC_00033 |
35927 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1089C>T |
Phe363Phe |
M0073240 |
BKFGJPLC_00033 |
36320 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
696T>C |
Ile232Ile |
M0073241 |
BKFGJPLC_00033 |
36338 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
678C>T |
Phe226Phe |
M0073242 |
BKFGJPLC_00033 |
36353 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
663C>T |
Ser221Ser |
M0073243 |
BKFGJPLC_00033 |
36416 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
600C>T |
Phe200Phe |
M0073244 |
BKFGJPLC_00033 |
36917 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
99T>G |
Ser33Ser |
M0073245 |
BKFGJPLC_00033 |
37020 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-5G>A |
None |
M0073246 |
BKFGJPLC_00033 |
37665 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-650A>G |
None |
M0073247 |
BKFGJPLC_00033 |
37690 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-675T>A |
None |
M0073248 |
BKFGJPLC_00033 |
37697 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-682T>C |
None |
M0073249 |
BKFGJPLC_00035 |
37790 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
72T>C |
Thr24Thr |
M0073250 |
BKFGJPLC_00035 |
37872 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
154T>C |
Phe52Leu |
M0073251 |
BKFGJPLC_00035 |
37958 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
240C>T |
Ser80Ser |
M0073252 |
BKFGJPLC_00035 |
37970 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
252T>C |
Tyr84Tyr |
M0073253 |
BKFGJPLC_00035 |
37982 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
264G>A |
Glu88Glu |
M0073254 |
BKFGJPLC_00035 |
38003 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
285C>T |
Gly95Gly |
M0073255 |
BKFGJPLC_00035 |
38066 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
348G>A |
Lys116Lys |
M0073256 |
BKFGJPLC_00033 |
38078 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1063G>T |
None |
M0073257 |
BKFGJPLC_00033 |
38080 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1065G>A |
None |
M0073258 |
BKFGJPLC_00033 |
38099 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1084C>G |
None |
M0073259 |
BKFGJPLC_00033 |
38103 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1088T>A |
None |
M0073260 |
BKFGJPLC_00036 |
38156 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
444C>T |
His148His |
M0073261 |
BKFGJPLC_00036 |
38207 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
393C>T |
Asp131Asp |
M0073262 |
BKFGJPLC_00036 |
38226 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
374A>G |
Asn125Ser |
M0073263 |
BKFGJPLC_00036 |
38238 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
362G>T |
Arg121Leu |
M0073264 |
BKFGJPLC_00036 |
38246 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
354G>A |
Val118Val |
M0073265 |
BKFGJPLC_00011 |
13928 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4528T>A |
None |
M0073266 |
BKFGJPLC_00011 |
14047 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4647A>T |
None |
M0073267 |
BKFGJPLC_00011 |
14256 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4856T>C |
None |
M0073268 |
BKFGJPLC_00011 |
14257 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4857G>A |
None |
M0073269 |
BKFGJPLC_00011 |
14265 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4865T>A |
None |
M0073270 |
BKFGJPLC_00011 |
14269 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4869G>A |
None |
M0073271 |
BKFGJPLC_00011 |
14272 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4872T>A |
None |
M0073272 |
BKFGJPLC_00011 |
14275 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4875A>T |
None |
M0073273 |
BKFGJPLC_00011 |
14278 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4878T>A |
None |
M0073274 |
BKFGJPLC_00011 |
14281 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4881A>T |
None |
M0073275 |
BKFGJPLC_00011 |
14290 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4890A>G |
None |
M0073276 |
BKFGJPLC_00017 |
14369 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
738A>C |
Thr246Thr |
M0073277 |
BKFGJPLC_00017 |
14381 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
726C>A |
Ala242Ala |
M0073278 |
BKFGJPLC_00017 |
15065 |
9 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
42A>G |
Gly14Gly |
M0073279 |
BKFGJPLC_00017 |
15089 |
8 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
18A>T |
Ile6Ile |
M0073280 |
BKFGJPLC_00017 |
15101 |
8 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
6G>A |
Ala2Ala |
M0073281 |
BKFGJPLC_00013 |
15110 |
9 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4732T>C |
None |
M0073282 |
BKFGJPLC_00013 |
15115 |
9 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4737T>C |
None |
M0073283 |
BKFGJPLC_00013 |
15127 |
8 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4749C>A |
None |
M0073284 |
BKFGJPLC_00013 |
15131 |
8 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4753G>T |
None |
M0073285 |
BKFGJPLC_00013 |
15137 |
8 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4759A>T |
None |
M0073286 |
BKFGJPLC_00018 |
16332 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
147G>A |
Ala49Ala |
M0073287 |
BKFGJPLC_00018 |
16422 |
8 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
57T>C |
Leu19Leu |
M0073288 |
BKFGJPLC_00054 |
54902 |
8 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
951T>C |
Asn317Asn |
M0073289 |
BKFGJPLC_00053 |
56679 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2617T>G |
None |
M0073290 |
BKFGJPLC_00053 |
56709 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2647A>C |
None |
M0073291 |
BKFGJPLC_00053 |
56710 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2648C>T |
None |
M0073292 |
BKFGJPLC_00056 |
56900 |
6 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
977A>G |
Asp326Gly |
M0073293 |
BKFGJPLC_00056 |
56998 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
879C>T |
Ala293Ala |
M0073294 |
BKFGJPLC_00077 |
78261 |
9 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
297C>G |
Asn99Lys |
M0073295 |
BKFGJPLC_00077 |
78264 |
9 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
300C>A |
Arg100Arg |
M0073296 |
BKFGJPLC_00078 |
79051 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
327A>G |
Lys109Lys |
M0073297 |
BKFGJPLC_00026 |
27929 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
834A>G |
Glu278Glu |
M0073298 |
BKFGJPLC_00026 |
28255 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
508C>T |
Leu170Leu |
M0073299 |
BKFGJPLC_00050 |
51531 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
223G>A |
Asp75Asn |
M0073300 |
BKFGJPLC_00050 |
51542 |
8 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
234A>G |
Glu78Glu |
M0073301 |
BKFGJPLC_00050 |
51548 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
240G>A |
Val80Val |
M0073302 |
BKFGJPLC_00050 |
51666 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
358T>A |
Ser120Thr |
M0073303 |
BKFGJPLC_00050 |
52111 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
803G>A |
Ser268Asn |
M0073304 |
BKFGJPLC_00050 |
52148 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
840T>C |
Asp280Asp |
M0073305 |
BKFGJPLC_00051 |
52196 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
43T>C |
Ser15Pro |
M0073306 |
BKFGJPLC_00051 |
52246 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
93A>G |
Ala31Ala |
M0073307 |
BKFGJPLC_00045 |
52794 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4341T>G |
None |
M0073308 |
BKFGJPLC_00045 |
52806 |
9 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4353C>T |
None |
M0073309 |
BKFGJPLC_00045 |
52809 |
9 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4356A>C |
None |
M0073310 |
BKFGJPLC_00045 |
52825 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4372A>G |
None |
M0073311 |
BKFGJPLC_00045 |
52842 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4389T>C |
None |
M0073312 |
BKFGJPLC_00045 |
52850 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4397T>A |
None |
M0073313 |
BKFGJPLC_00045 |
52851 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4398G>A |
None |
M0073314 |
BKFGJPLC_00045 |
52852 |
9 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4399T>C |
None |
M0073315 |
BKFGJPLC_00045 |
52864 |
7 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4411T>C |
None |
M0073316 |
BKFGJPLC_00052 |
52926 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
57C>A |
His19Gln |
M0073317 |
BKFGJPLC_00052 |
53175 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
306T>C |
Ser102Ser |
M0073318 |
BKFGJPLC_00052 |
53199 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
330G>A |
Leu110Leu |
M0073319 |
BKFGJPLC_00052 |
53434 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
565G>A |
Glu189Lys |
M0073320 |
BKFGJPLC_00046 |
53728 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4117T>G |
None |
M0073321 |
BKFGJPLC_00053 |
53889 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
174C>T |
Asn58Asn |
M0073322 |
BKFGJPLC_00080 |
80762 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
339C>T |
Ser113Ser |
M0073323 |
BKFGJPLC_00080 |
80921 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
180G>A |
Lys60Lys |
M0073324 |
BKFGJPLC_00080 |
80961 |
8 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
140A>G |
Asn47Ser |
M0073325 |
BKFGJPLC_00080 |
80996 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
105T>A |
Asn35Lys |
M0073326 |
BKFGJPLC_00080 |
80999 |
8 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
102A>G |
Ala34Ala |
M0073327 |
BKFGJPLC_00080 |
81002 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
99A>T |
Lys33Asn |
M0073328 |
BKFGJPLC_00080 |
81020 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
81T>G |
Asp27Glu |
M0073329 |
BKFGJPLC_00080 |
81080 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
21A>G |
Val7Val |
M0073330 |
BKFGJPLC_00080 |
81117 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-17A>C |
None |
M0073331 |
BKFGJPLC_00081 |
81227 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
774G>T |
Val258Val |
M0073332 |
BKFGJPLC_00081 |
81229 |
6 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
772G>A |
Val258Met |
M0073333 |
BKFGJPLC_00081 |
81356 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
645C>T |
Ile215Ile |
M0073334 |
BKFGJPLC_00081 |
81358 |
6 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
643A>G |
Ile215Val |
M0073335 |
BKFGJPLC_00081 |
81419 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
582G>A |
Thr194Thr |
M0073336 |
BKFGJPLC_00081 |
81677 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
324T>C |
Asn108Asn |
M0073337 |
BKFGJPLC_00081 |
81733 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
268A>G |
Ile90Val |
M0073338 |
BKFGJPLC_00081 |
81810 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
191C>G |
Thr64Ser |
M0073339 |
BKFGJPLC_00081 |
81811 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
190A>G |
Thr64Ala |
M0073340 |
BKFGJPLC_00081 |
81812 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
189A>G |
Glu63Glu |
M0073341 |
BKFGJPLC_00081 |
81931 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
70T>G |
Ser24Ala |
M0073342 |
BKFGJPLC_00081 |
81936 |
6 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
65T>C |
Ile22Thr |
M0073343 |
BKFGJPLC_00081 |
81947 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
54A>G |
Gly18Gly |
M0073344 |
BKFGJPLC_00081 |
81982 |
6 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
19A>G |
Ile7Val |
M0073345 |
BKFGJPLC_00082 |
82541 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1100A>G |
Lys367Arg |
M0073346 |
BKFGJPLC_00082 |
83095 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
546T>C |
Ser182Ser |
M0073347 |
BKFGJPLC_00082 |
83308 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
333G>A |
Glu111Glu |
M0073348 |
BKFGJPLC_00020 |
17863 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
276G>A |
Thr92Thr |
M0073349 |
BKFGJPLC_00020 |
17957 |
6 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
370A>G |
Lys124Glu |
M0073350 |
BKFGJPLC_00020 |
17959 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
372A>T |
Lys124Asn |
M0073351 |
BKFGJPLC_00020 |
17975 |
6 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
388T>C |
Tyr130His |
M0073352 |
BKFGJPLC_00016 |
18000 |
5 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4078T>C |
None |
M0073353 |
BKFGJPLC_00016 |
18021 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4099C>A |
None |
M0073354 |
BKFGJPLC_00021 |
18059 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
495G>C |
Gly165Gly |
M0073355 |
BKFGJPLC_00021 |
18170 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
384A>G |
Lys128Lys |
M0073356 |
BKFGJPLC_00021 |
18176 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
378A>G |
Lys126Lys |
M0073357 |
BKFGJPLC_00021 |
18214 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
340G>A |
Asp114Asn |
M0073358 |
BKFGJPLC_00021 |
18260 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
294A>G |
Lys98Lys |
M0073359 |
BKFGJPLC_00021 |
18263 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
291T>C |
Gly97Gly |
M0073360 |
BKFGJPLC_00021 |
18310 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
244A>G |
Lys82Glu |
M0073361 |
BKFGJPLC_00021 |
18324 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
230T>C |
Val77Ala |
M0073362 |
BKFGJPLC_00021 |
18392 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
162C>A |
Thr54Thr |
M0073363 |
BKFGJPLC_00021 |
18416 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
138A>T |
Val46Val |
M0073364 |
BKFGJPLC_00021 |
18422 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
132G>A |
Gly44Gly |
M0073365 |
BKFGJPLC_00016 |
18611 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4689T>C |
None |
M0073366 |
BKFGJPLC_00016 |
18692 |
6 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4770G>T |
None |
M0073367 |
BKFGJPLC_00022 |
18811 |
6 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
71G>T |
Cys24Phe |
M0073368 |
BKFGJPLC_00022 |
18950 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
210C>T |
Gly70Gly |
M0073369 |
BKFGJPLC_00022 |
19007 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
267G>A |
Thr89Thr |
M0073370 |
BKFGJPLC_00022 |
19203 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
463A>C |
Lys155Gln |
M0073371 |
BKFGJPLC_00017 |
19308 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4202T>G |
None |
M0073372 |
BKFGJPLC_00023 |
19426 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2721G>A |
Gly907Gly |
M0073373 |
BKFGJPLC_00023 |
19435 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2712T>C |
Ile904Ile |
M0073374 |
BKFGJPLC_00023 |
19474 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2673A>C |
Val891Val |
M0073375 |
BKFGJPLC_00023 |
19477 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2670T>A |
Val890Val |
M0073376 |
BKFGJPLC_00023 |
19672 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2475A>C |
Ala825Ala |
M0073377 |
BKFGJPLC_00023 |
19675 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2472T>A |
Gly824Gly |
M0073378 |
BKFGJPLC_00023 |
20047 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2100C>T |
Asp700Asp |
M0073379 |
BKFGJPLC_00017 |
14972 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
135A>C |
Leu45Phe |
M0073380 |
BKFGJPLC_00017 |
14974 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
133T>C |
Leu45Leu |
M0073381 |
BKFGJPLC_00017 |
14975 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
132A>G |
Leu44Leu |
M0073382 |
BKFGJPLC_00013 |
15208 |
5 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4830C>T |
None |
M0073383 |
BKFGJPLC_00013 |
15217 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4839T>A |
None |
M0073384 |
BKFGJPLC_00013 |
15219 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4841A>T |
None |
M0073385 |
BKFGJPLC_00018 |
15399 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1080T>C |
Arg360Arg |
M0073386 |
BKFGJPLC_00018 |
15570 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
909G>A |
Glu303Glu |
M0073387 |
BKFGJPLC_00018 |
15687 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
792C>T |
Pro264Pro |
M0073388 |
BKFGJPLC_00018 |
15727 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
752G>A |
Gly251Asp |
M0073389 |
BKFGJPLC_00018 |
16347 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
132G>A |
Pro44Pro |
M0073390 |
BKFGJPLC_00018 |
16356 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
123T>C |
Asp41Asp |
M0073391 |
BKFGJPLC_00018 |
16359 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
120C>T |
Phe40Phe |
M0073392 |
BKFGJPLC_00018 |
16362 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
117A>G |
Leu39Leu |
M0073393 |
BKFGJPLC_00018 |
16365 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
114A>G |
Leu38Leu |
M0073394 |
BKFGJPLC_00018 |
16367 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
112C>T |
Leu38Leu |
M0073395 |
BKFGJPLC_00018 |
16380 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
99C>T |
Asp33Asp |
M0073396 |
BKFGJPLC_00018 |
16386 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
93G>A |
Val31Val |
M0073397 |
BKFGJPLC_00018 |
16413 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
66T>A |
Arg22Arg |
M0073398 |
BKFGJPLC_00018 |
16425 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
54A>G |
Val18Val |
M0073399 |
BKFGJPLC_00013 |
15223 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4845T>A |
None |
M0073400 |
BKFGJPLC_00016 |
17351 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3429G>A |
None |
M0073401 |
BKFGJPLC_00016 |
17515 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3593T>C |
None |
M0073402 |
BKFGJPLC_00016 |
17532 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3610T>C |
None |
M0073403 |
BKFGJPLC_00016 |
17570 |
5 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3648C>T |
None |
M0073404 |
BKFGJPLC_00023 |
21136 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1011C>A |
Ala337Ala |
M0073405 |
BKFGJPLC_00023 |
21169 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
978G>T |
Gly326Gly |
M0073406 |
BKFGJPLC_00023 |
21181 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
966A>G |
Lys322Lys |
M0073407 |
BKFGJPLC_00023 |
21205 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
942A>G |
Ala314Ala |
M0073408 |
BKFGJPLC_00023 |
21211 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
936C>T |
Asn312Asn |
M0073409 |
BKFGJPLC_00023 |
21361 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
786G>A |
Ala262Ala |
M0073410 |
BKFGJPLC_00023 |
21397 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
750C>T |
Asp250Asp |
M0073411 |
BKFGJPLC_00023 |
22128 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
19C>T |
Leu7Leu |
M0073412 |
BKFGJPLC_00024 |
23727 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1317C>T |
Ala439Ala |
M0073413 |
BKFGJPLC_00024 |
23790 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1380T>C |
Ala460Ala |
M0073414 |
BKFGJPLC_00024 |
23874 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1464T>A |
Gly488Gly |
M0073415 |
BKFGJPLC_00024 |
23910 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1500T>C |
Ser500Ser |
M0073416 |
BKFGJPLC_00024 |
23911 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1501A>G |
Asn501Asp |
M0073417 |
BKFGJPLC_00024 |
23917 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1507A>C |
Asn503His |
M0073418 |
BKFGJPLC_00024 |
23922 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1512T>A |
Ile504Ile |
M0073419 |
BKFGJPLC_00024 |
23964 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1554G>A |
Lys518Lys |
M0073420 |
BKFGJPLC_00024 |
24165 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1755A>G |
Lys585Lys |
M0073421 |
BKFGJPLC_00024 |
24390 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1980G>T |
Gly660Gly |
M0073422 |
BKFGJPLC_00024 |
24395 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1985A>G |
Asn662Ser |
M0073423 |
BKFGJPLC_00024 |
24444 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2034C>T |
Gly678Gly |
M0073424 |
BKFGJPLC_00024 |
24471 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2061C>T |
Gly687Gly |
M0073425 |
BKFGJPLC_00024 |
24597 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2187C>T |
Tyr729Tyr |
M0073426 |
BKFGJPLC_00021 |
18458 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
96G>T |
Ala32Ala |
M0073427 |
BKFGJPLC_00022 |
18839 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
99T>C |
Ser33Ser |
M0073428 |
BKFGJPLC_00022 |
18852 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
112C>T |
Pro38Ser |
M0073429 |
BKFGJPLC_00022 |
18969 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
229T>C |
Ser77Pro |
M0073430 |
BKFGJPLC_00022 |
18974 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
234A>C |
Thr78Thr |
M0073431 |
BKFGJPLC_00022 |
19049 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
309C>T |
Ser103Ser |
M0073432 |
BKFGJPLC_00022 |
19060 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
320C>A |
Thr107Asn |
M0073433 |
BKFGJPLC_00022 |
19061 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
321T>C |
Thr107Thr |
M0073434 |
BKFGJPLC_00022 |
19227 |
6 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
487A>C |
Asn163His |
M0073435 |
BKFGJPLC_00023 |
20935 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1212T>G |
Ala404Ala |
M0073436 |
BKFGJPLC_00023 |
21440 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
707A>C |
Asn236Thr |
M0073437 |
BKFGJPLC_00044 |
46074 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
398A>G |
Asn133Ser |
M0073438 |
BKFGJPLC_00044 |
46266 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
590G>A |
Arg197Lys |
M0073439 |
BKFGJPLC_00044 |
46320 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
644C>T |
Ser215Phe |
M0073440 |
BKFGJPLC_00044 |
46324 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
648T>C |
Asp216Asp |
M0073441 |
BKFGJPLC_00044 |
46411 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
735C>T |
Ala245Ala |
M0073442 |
BKFGJPLC_00044 |
46439 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
763G>A |
Glu255Lys |
M0073443 |
BKFGJPLC_00044 |
46462 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
786A>T |
Thr262Thr |
M0073444 |
BKFGJPLC_00044 |
46479 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
803G>A |
Arg268Gln |
M0073445 |
BKFGJPLC_00044 |
46516 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
840T>C |
Pro280Pro |
M0073446 |
BKFGJPLC_00044 |
46630 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
954G>A |
Gln318Gln |
M0073447 |
BKFGJPLC_00044 |
46645 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
969A>G |
Thr323Thr |
M0073448 |
BKFGJPLC_00044 |
46682 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1006T>C |
Leu336Leu |
M0073449 |
BKFGJPLC_00044 |
46720 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1044G>A |
Ala348Ala |
M0073450 |
BKFGJPLC_00044 |
46795 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1119T>C |
Asn373Asn |
M0073451 |
BKFGJPLC_00044 |
46837 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1161T>C |
Ala387Ala |
M0073452 |
BKFGJPLC_00044 |
46891 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1215G>T |
Thr405Thr |
M0073453 |
BKFGJPLC_00044 |
46982 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1306G>A |
Val436Ile |
M0073454 |
BKFGJPLC_00044 |
47016 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1340C>A |
Ala447Asp |
M0073455 |
BKFGJPLC_00044 |
47131 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1455G>A |
Glu485Glu |
M0073456 |
BKFGJPLC_00044 |
47147 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1471T>C |
Leu491Leu |
M0073457 |
BKFGJPLC_00045 |
47416 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1038G>A |
Gly346Gly |
M0073458 |
BKFGJPLC_00045 |
47623 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
831G>T |
Leu277Phe |
M0073459 |
BKFGJPLC_00045 |
47625 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
829T>C |
Leu277Leu |
M0073460 |
BKFGJPLC_00045 |
47653 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
801A>C |
Thr267Thr |
M0073461 |
BKFGJPLC_00045 |
47776 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
678A>G |
Glu226Glu |
M0073462 |
BKFGJPLC_00050 |
51386 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
78T>C |
Phe26Phe |
M0073463 |
BKFGJPLC_00050 |
51401 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
93T>A |
Gly31Gly |
M0073464 |
BKFGJPLC_00050 |
51446 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
138A>C |
Thr46Thr |
M0073465 |
BKFGJPLC_00056 |
57535 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
342A>G |
Thr114Thr |
M0073466 |
BKFGJPLC_00057 |
58150 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1032A>G |
Gly344Gly |
M0073467 |
BKFGJPLC_00057 |
58190 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
992G>T |
Gly331Val |
M0073468 |
BKFGJPLC_00057 |
58300 |
9 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
882C>A |
Ile294Ile |
M0073469 |
BKFGJPLC_00057 |
58308 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
874G>T |
Val292Leu |
M0073470 |
BKFGJPLC_00057 |
58327 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
855C>A |
Pro285Pro |
M0073471 |
BKFGJPLC_00057 |
58339 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
843C>A |
Asn281Lys |
M0073472 |
BKFGJPLC_00057 |
58357 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
825T>C |
Asp275Asp |
M0073473 |
BKFGJPLC_00057 |
58365 |
9 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
817A>G |
Ile273Val |
M0073474 |
BKFGJPLC_00057 |
58374 |
7 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
808G>C |
Asp270His |
M0073475 |
BKFGJPLC_00057 |
58381 |
7 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
801T>C |
Ser267Ser |
M0073476 |
BKFGJPLC_00058 |
59577 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
623C>G |
Thr208Arg |
M0073477 |
BKFGJPLC_00058 |
59921 |
8 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
279T>C |
Thr93Thr |
M0073478 |
BKFGJPLC_00059 |
60663 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
558T>G |
Ile186Met |
M0073479 |
BKFGJPLC_00061 |
61829 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
93T>C |
Asp31Asp |
M0073480 |
BKFGJPLC_00061 |
61856 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
120T>C |
Phe40Phe |
M0073481 |
BKFGJPLC_00062 |
63244 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1101G>T |
Ala367Ala |
M0073482 |
BKFGJPLC_00062 |
63317 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1174T>C |
Leu392Leu |
M0073483 |
BKFGJPLC_00062 |
63376 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1233C>T |
Tyr411Tyr |
M0073484 |
BKFGJPLC_00062 |
63382 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1239C>T |
Ile413Ile |
M0073485 |
BKFGJPLC_00062 |
63385 |
6 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1242T>C |
Asn414Asn |
M0073486 |
BKFGJPLC_00062 |
63479 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1336G>A |
Val446Ile |
M0073487 |
BKFGJPLC_00062 |
63523 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1380A>T |
Ala460Ala |
M0073488 |
BKFGJPLC_00062 |
63526 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1383A>G |
Val461Val |
M0073489 |
BKFGJPLC_00062 |
63652 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1509C>T |
Asn503Asn |
M0073490 |
BKFGJPLC_00063 |
63966 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
96A>G |
Leu32Leu |
M0073491 |
BKFGJPLC_00063 |
64125 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
255A>G |
Pro85Pro |
M0073492 |
BKFGJPLC_00063 |
64311 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
441T>C |
His147His |
M0073493 |
BKFGJPLC_00064 |
64322 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
7G>A |
Asp3Asn |
M0073494 |
BKFGJPLC_00064 |
64405 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
90A>G |
Thr30Thr |
M0073495 |
BKFGJPLC_00064 |
64420 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
105A>G |
Gln35Gln |
M0073496 |
BKFGJPLC_00064 |
64421 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
106G>A |
Ala36Thr |
M0073497 |
BKFGJPLC_00064 |
64423 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
108T>A |
Ala36Ala |
M0073498 |
BKFGJPLC_00064 |
64429 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
114C>T |
His38His |
M0073499 |
BKFGJPLC_00064 |
64435 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
120A>T |
Ala40Ala |
M0073500 |
BKFGJPLC_00064 |
64437 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
122A>C |
Asn41Thr |
M0073501 |
BKFGJPLC_00064 |
64438 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
123T>A |
Asn41Lys |
M0073502 |
BKFGJPLC_00064 |
64446 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
131A>G |
Lys44Arg |
M0073503 |
BKFGJPLC_00064 |
64466 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
151T>C |
Leu51Leu |
M0073504 |
BKFGJPLC_00064 |
64474 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
159A>G |
Glu53Glu |
M0073505 |
BKFGJPLC_00064 |
64477 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
162A>G |
Gln54Gln |
M0073506 |
BKFGJPLC_00064 |
64483 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
168G>C |
Thr56Thr |
M0073507 |
BKFGJPLC_00064 |
64495 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
180A>C |
Gly60Gly |
M0073508 |
BKFGJPLC_00064 |
64555 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
240A>C |
Gln80His |
M0073509 |
BKFGJPLC_00064 |
64639 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
324G>T |
Leu108Leu |
M0073510 |
BKFGJPLC_00064 |
64642 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
327C>T |
Ala109Ala |
M0073511 |
BKFGJPLC_00064 |
64645 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
330G>A |
Met110Ile |
M0073512 |
BKFGJPLC_00064 |
64672 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
357A>T |
Lys119Asn |
M0073513 |
BKFGJPLC_00064 |
64678 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
363C>T |
Tyr121Tyr |
M0073514 |
BKFGJPLC_00064 |
64687 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
372G>A |
Gln124Gln |
M0073515 |
BKFGJPLC_00064 |
64795 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
480C>T |
Asn160Asn |
M0073516 |
BKFGJPLC_00064 |
64880 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
565T>C |
Tyr189His |
M0073517 |
BKFGJPLC_00064 |
64888 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
573G>A |
Glu191Glu |
M0073518 |
BKFGJPLC_00064 |
64891 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
576T>G |
Arg192Arg |
M0073519 |
BKFGJPLC_00064 |
64903 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
588T>C |
His196His |
M0073520 |
BKFGJPLC_00064 |
64917 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
602A>G |
Asn201Ser |
M0073521 |
BKFGJPLC_00064 |
64927 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
612C>T |
Asp204Asp |
M0073522 |
BKFGJPLC_00064 |
64930 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
615T>C |
Phe205Phe |
M0073523 |
BKFGJPLC_00064 |
64948 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
633T>C |
Gly211Gly |
M0073524 |
BKFGJPLC_00064 |
64954 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
639G>A |
Glu213Glu |
M0073525 |
BKFGJPLC_00064 |
64957 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
642T>G |
Leu214Leu |
M0073526 |
BKFGJPLC_00065 |
65488 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
471C>T |
Gly157Gly |
M0073527 |
BKFGJPLC_00065 |
65572 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
555T>G |
Asp185Glu |
M0073528 |
BKFGJPLC_00065 |
65605 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
588T>C |
Arg196Arg |
M0073529 |
BKFGJPLC_00066 |
65655 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
24G>A |
Ser8Ser |
M0073530 |
BKFGJPLC_00066 |
65680 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
49G>A |
Asp17Asn |
M0073531 |
BKFGJPLC_00066 |
65761 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
130G>A |
Val44Ile |
M0073532 |
BKFGJPLC_00066 |
65775 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
144C>T |
Phe48Phe |
M0073533 |
BKFGJPLC_00066 |
65780 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
149A>C |
Lys50Thr |
M0073534 |
BKFGJPLC_00066 |
65802 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
171C>A |
Val57Val |
M0073535 |
BKFGJPLC_00066 |
65845 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
214A>G |
Asn72Asp |
M0073536 |
BKFGJPLC_00066 |
65856 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
225C>T |
Val75Val |
M0073537 |
BKFGJPLC_00066 |
65865 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
234G>T |
Glu78Asp |
M0073538 |
BKFGJPLC_00066 |
65904 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
273T>A |
Ile91Ile |
M0073539 |
BKFGJPLC_00066 |
65937 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
306T>C |
Tyr102Tyr |
M0073540 |
BKFGJPLC_00066 |
65985 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
354C>T |
Asp118Asp |
M0073541 |
BKFGJPLC_00066 |
66054 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
423C>A |
Ser141Ser |
M0073542 |
BKFGJPLC_00066 |
66180 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
549A>C |
Arg183Arg |
M0073543 |
BKFGJPLC_00066 |
66375 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
744C>A |
Val248Val |
M0073544 |
BKFGJPLC_00066 |
66450 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
819A>G |
Leu273Leu |
M0073545 |
BKFGJPLC_00080 |
80519 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
582C>T |
Asp194Asp |
M0073546 |
BKFGJPLC_00021 |
18502 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
52A>G |
Met18Val |
M0073547 |
BKFGJPLC_00079 |
79409 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-97A>T |
None |
M0073548 |
BKFGJPLC_00079 |
80222 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
717T>C |
Val239Val |
M0073549 |
BKFGJPLC_00080 |
80488 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
613G>A |
Ala205Thr |
M0073550 |
BKFGJPLC_00080 |
80582 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
519A>G |
Ser173Ser |
M0073551 |
BKFGJPLC_00080 |
80835 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
266G>T |
Ser89Ile |
M0073552 |
BKFGJPLC_00080 |
80880 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
221T>C |
Val74Ala |
M0073553 |
BKFGJPLC_00080 |
80881 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
220G>A |
Val74Ile |
M0073554 |
BKFGJPLC_00080 |
80998 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
103A>G |
Asn35Asp |
M0073555 |
BKFGJPLC_00080 |
81077 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
24A>G |
Thr8Thr |
M0073556 |
BKFGJPLC_00081 |
81197 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
804G>T |
Thr268Thr |
M0073557 |
BKFGJPLC_00081 |
81198 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
803C>G |
Thr268Arg |
M0073558 |
BKFGJPLC_00081 |
81242 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
759G>C |
Thr253Thr |
M0073559 |
BKFGJPLC_00081 |
81343 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
658A>T |
Thr220Ser |
M0073560 |
BKFGJPLC_00081 |
81834 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
167T>C |
Ile56Thr |
M0073561 |
BKFGJPLC_00081 |
81948 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
53G>T |
Gly18Val |
M0073562 |
BKFGJPLC_00082 |
82818 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
823T>C |
Leu275Leu |
M0073563 |
BKFGJPLC_00082 |
82915 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
726G>A |
Leu242Leu |
M0073564 |
BKFGJPLC_00082 |
82932 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
709A>C |
Ile237Leu |
M0073565 |
BKFGJPLC_00082 |
82967 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
674C>T |
Ala225Val |
M0073566 |
BKFGJPLC_00082 |
83170 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
471C>T |
Tyr157Tyr |
M0073567 |
BKFGJPLC_00082 |
83230 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
411T>C |
Ile137Ile |
M0073568 |
BKFGJPLC_00082 |
83236 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
405A>C |
Gly135Gly |
M0073569 |
BKFGJPLC_00080 |
83646 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2546T>A |
None |
M0073570 |
BKFGJPLC_00083 |
83694 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
875A>G |
Asn292Ser |
M0073571 |
BKFGJPLC_00083 |
84005 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
564T>A |
Ser188Ser |
M0073572 |
BKFGJPLC_00083 |
84100 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
469G>A |
Asp157Asn |
M0073573 |
BKFGJPLC_00083 |
84263 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
306T>C |
Asp102Asp |
M0073574 |
BKFGJPLC_00083 |
84277 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
292A>G |
Asn98Asp |
M0073575 |
BKFGJPLC_00083 |
84313 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
256C>T |
Leu86Leu |
M0073576 |
BKFGJPLC_00083 |
84323 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
246T>C |
Gly82Gly |
M0073577 |
BKFGJPLC_00083 |
84494 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
75A>G |
Glu25Glu |
M0073578 |
BKFGJPLC_00083 |
84536 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
33A>G |
Ala11Ala |
M0073579 |
BKFGJPLC_00080 |
84588 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3488T>C |
None |
M0073580 |
BKFGJPLC_00080 |
84716 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3616T>C |
None |
M0073581 |
BKFGJPLC_00084 |
84884 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
87C>A |
Thr29Thr |
M0073582 |
BKFGJPLC_00084 |
85064 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
267T>C |
Gly89Gly |
M0073583 |
BKFGJPLC_00084 |
85145 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
348G>A |
Glu116Glu |
M0073584 |
BKFGJPLC_00084 |
85622 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
825C>T |
Ser275Ser |
M0073585 |
BKFGJPLC_00085 |
85721 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
786G>T |
Val262Val |
M0073586 |
BKFGJPLC_00085 |
85814 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
693A>G |
Gln231Gln |
M0073587 |
BKFGJPLC_00085 |
85834 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
673A>T |
Thr225Ser |
M0073588 |
BKFGJPLC_00085 |
85954 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
553G>A |
Ala185Thr |
M0073589 |
BKFGJPLC_00085 |
86075 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
432G>T |
Gly144Gly |
M0073590 |
BKFGJPLC_00085 |
86110 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
397A>G |
Thr133Ala |
M0073591 |
BKFGJPLC_00085 |
86222 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
285C>T |
Ile95Ile |
M0073592 |
BKFGJPLC_00085 |
86254 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
253G>A |
Val85Ile |
M0073593 |
BKFGJPLC_00081 |
86516 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4516T>G |
None |
M0073594 |
BKFGJPLC_00081 |
86538 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4538T>C |
None |
M0073595 |
BKFGJPLC_00081 |
86544 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4544C>T |
None |
M0073596 |
BKFGJPLC_00086 |
87016 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
310C>T |
Pro104Ser |
M0073597 |
BKFGJPLC_00087 |
87691 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
292A>G |
Asn98Asp |
M0073598 |
BKFGJPLC_00087 |
87742 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
343C>T |
His115Tyr |
M0073599 |
BKFGJPLC_00087 |
87764 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
365C>T |
Ser122Phe |
M0073600 |
BKFGJPLC_00087 |
87775 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
376G>C |
Glu126Gln |
M0073601 |
BKFGJPLC_00087 |
87813 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
414T>C |
Gly138Gly |
M0073602 |
BKFGJPLC_00087 |
88023 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
624T>G |
Asp208Glu |
M0073603 |
BKFGJPLC_00082 |
88148 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4508A>G |
None |
M0073604 |
BKFGJPLC_00053 |
55886 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1824T>G |
None |
M0073605 |
BKFGJPLC_00053 |
55916 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1854A>G |
None |
M0073606 |
BKFGJPLC_00055 |
56132 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
87C>A |
Asp29Glu |
M0073607 |
BKFGJPLC_00055 |
56328 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
283C>T |
Leu95Phe |
M0073608 |
BKFGJPLC_00055 |
56349 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
304G>A |
Ala102Thr |
M0073609 |
BKFGJPLC_00055 |
56606 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
561A>G |
Glu187Glu |
M0073610 |
BKFGJPLC_00056 |
57141 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
736G>A |
Glu246Lys |
M0073611 |
BKFGJPLC_00017 |
14669 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
438A>G |
Ala146Ala |
M0073612 |
BKFGJPLC_00017 |
14675 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
432A>G |
Leu144Leu |
M0073613 |
BKFGJPLC_00050 |
51743 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
435A>C |
Ala145Ala |
M0073614 |
BKFGJPLC_00050 |
51749 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
441T>G |
Ser147Ser |
M0073615 |
BKFGJPLC_00050 |
51782 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
474A>G |
Ala158Ala |
M0073616 |
BKFGJPLC_00050 |
51848 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
540A>G |
Lys180Lys |
M0073617 |
BKFGJPLC_00051 |
52429 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
276G>A |
Leu92Leu |
M0073618 |
BKFGJPLC_00051 |
52432 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
279A>G |
Ile93Met |
M0073619 |
BKFGJPLC_00051 |
52634 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
481G>A |
Val161Ile |
M0073620 |
BKFGJPLC_00051 |
52648 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
495C>T |
Leu165Leu |
M0073621 |
BKFGJPLC_00051 |
52649 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
496A>G |
Ile166Val |
M0073622 |
BKFGJPLC_00051 |
52666 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
513A>G |
Ile171Met |
M0073623 |
BKFGJPLC_00051 |
52684 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
531C>T |
Asn177Asn |
M0073624 |
BKFGJPLC_00050 |
51881 |
5 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
573A>T |
Ser191Ser |
M0073625 |
BKFGJPLC_00050 |
51907 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
599A>C |
Lys200Thr |
M0073626 |
BKFGJPLC_00057 |
58273 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
909G>T |
Gly303Gly |
M0073627 |
BKFGJPLC_00079 |
79390 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-116C>T |
None |
M0073628 |
BKFGJPLC_00080 |
81012 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
89C>A |
Pro30His |
M0073629 |
BKFGJPLC_00049 |
50714 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
159A>G |
Ala53Ala |
M0073630 |
BKFGJPLC_00051 |
52198 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
45G>T |
Ser15Ser |
M0073631 |
BKFGJPLC_00051 |
52351 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
198G>A |
Val66Val |
M0073632 |
BKFGJPLC_00051 |
52399 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
246C>T |
Ala82Ala |
M0073633 |
BKFGJPLC_00046 |
53723 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4112C>T |
None |
M0073634 |
BKFGJPLC_00020 |
17758 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
171A>G |
Thr57Thr |
M0073635 |
BKFGJPLC_00020 |
17901 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
314C>T |
Thr105Ile |
M0073636 |
BKFGJPLC_00020 |
17932 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
345A>G |
Glu115Glu |
M0073637 |
BKFGJPLC_00016 |
17993 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4071T>G |
None |
M0073638 |
BKFGJPLC_00016 |
17999 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4077C>T |
None |
M0073639 |
BKFGJPLC_00023 |
19957 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2190G>T |
Val730Val |
M0073640 |
BKFGJPLC_00023 |
19960 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2187T>A |
Thr729Thr |
M0073641 |
BKFGJPLC_00024 |
23298 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
888A>C |
Lys296Asn |
M0073642 |
BKFGJPLC_00024 |
23301 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
891T>C |
Asn297Asn |
M0073643 |
BKFGJPLC_00024 |
23317 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
907T>G |
Ser303Ala |
M0073644 |
BKFGJPLC_00024 |
23322 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
912A>G |
Gln304Gln |
M0073645 |
BKFGJPLC_00024 |
23328 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
918G>T |
Glu306Asp |
M0073646 |
BKFGJPLC_00024 |
23337 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
927A>G |
Thr309Thr |
M0073647 |
BKFGJPLC_00024 |
23338 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
928C>T |
Pro310Ser |
M0073648 |
BKFGJPLC_00024 |
23343 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
933T>C |
Asn311Asn |
M0073649 |
BKFGJPLC_00024 |
23407 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
997A>C |
Thr333Pro |
M0073650 |
BKFGJPLC_00024 |
23408 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
998C>A |
Thr333Lys |
M0073651 |
BKFGJPLC_00024 |
23419 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1009A>G |
Lys337Glu |
M0073652 |
BKFGJPLC_00024 |
23637 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1227T>C |
Asn409Asn |
M0073653 |
BKFGJPLC_00024 |
24461 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2051C>G |
Ala684Gly |
M0073654 |
BKFGJPLC_00024 |
24507 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2097C>A |
Gly699Gly |
M0073655 |
BKFGJPLC_00024 |
24543 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2133G>A |
Leu711Leu |
M0073656 |
BKFGJPLC_00024 |
24561 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2151T>C |
Arg717Arg |
M0073657 |
BKFGJPLC_00025 |
24868 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1377T>C |
Ile459Ile |
M0073658 |
BKFGJPLC_00025 |
24907 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1338C>G |
Ala446Ala |
M0073659 |
BKFGJPLC_00025 |
24910 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1335T>G |
Leu445Leu |
M0073660 |
BKFGJPLC_00025 |
24919 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1326G>A |
Leu442Leu |
M0073661 |
BKFGJPLC_00025 |
26076 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
169G>C |
Ala57Pro |
M0073662 |
BKFGJPLC_00025 |
26203 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
42C>A |
Asn14Lys |
M0073663 |
BKFGJPLC_00023 |
26312 |
5 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4166G>T |
None |
M0073664 |
BKFGJPLC_00023 |
26327 |
5 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4181A>G |
None |
M0073665 |
BKFGJPLC_00023 |
26451 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4305A>G |
None |
M0073666 |
BKFGJPLC_00044 |
45770 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
94C>T |
Leu32Leu |
M0073667 |
BKFGJPLC_00045 |
47440 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1014A>T |
Ala338Ala |
M0073668 |
BKFGJPLC_00045 |
47482 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
972G>A |
Pro324Pro |
M0073669 |
BKFGJPLC_00050 |
51755 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
447G>T |
Glu149Asp |
M0073670 |
BKFGJPLC_00050 |
51998 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
690T>A |
Thr230Thr |
M0073671 |
BKFGJPLC_00053 |
57936 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3874C>T |
None |
M0073672 |
BKFGJPLC_00059 |
61178 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
43G>A |
Val15Ile |
M0073673 |
BKFGJPLC_00056 |
61248 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3372A>G |
None |
M0073674 |
BKFGJPLC_00056 |
61320 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3444C>T |
None |
M0073675 |
BKFGJPLC_00056 |
61333 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3457A>C |
None |
M0073676 |
BKFGJPLC_00056 |
61354 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3478A>T |
None |
M0073677 |
BKFGJPLC_00056 |
61414 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3538A>G |
None |
M0073678 |
BKFGJPLC_00060 |
61459 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
39C>T |
Ile13Ile |
M0073679 |
BKFGJPLC_00060 |
61462 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
42G>C |
Val14Val |
M0073680 |
BKFGJPLC_00060 |
61489 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
69T>C |
Arg23Arg |
M0073681 |
BKFGJPLC_00017 |
14965 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
142T>C |
Leu48Leu |
M0073682 |
BKFGJPLC_00013 |
15172 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4794T>C |
None |
M0073683 |
BKFGJPLC_00018 |
15285 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1194T>C |
Gly398Gly |
M0073684 |
BKFGJPLC_00087 |
87528 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
129G>A |
Glu43Glu |
M0073685 |
BKFGJPLC_00042 |
43224 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
522A>G |
Lys174Lys |
M0073686 |
BKFGJPLC_00042 |
43269 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
477T>C |
Asn159Asn |
M0073687 |
BKFGJPLC_00053 |
56657 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2595G>T |
None |
M0073688 |
BKFGJPLC_00053 |
56661 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2599G>A |
None |
M0073689 |
BKFGJPLC_00024 |
23106 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
696T>C |
Asn232Asn |
M0073690 |
BKFGJPLC_00024 |
23155 |
5 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
745G>A |
Asp249Asn |
M0073691 |
BKFGJPLC_00024 |
23161 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
751C>T |
His251Tyr |
M0073692 |
BKFGJPLC_00024 |
23266 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
856A>G |
Ser286Gly |
M0073693 |
BKFGJPLC_00025 |
25402 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
843G>C |
Pro281Pro |
M0073694 |
BKFGJPLC_00025 |
26235 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
10A>G |
Ser4Gly |
M0073695 |
BKFGJPLC_00023 |
26277 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4131G>A |
None |
M0073696 |
BKFGJPLC_00023 |
26381 |
4 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4235T>A |
None |
M0073697 |
BKFGJPLC_00023 |
26387 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4241A>G |
None |
M0073698 |
BKFGJPLC_00023 |
26435 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4289T>A |
None |
M0073699 |
BKFGJPLC_00075 |
76410 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
129C>G |
Val43Val |
M0073700 |
BKFGJPLC_00075 |
76419 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
138C>T |
Ile46Ile |
M0073701 |
BKFGJPLC_00082 |
83485 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
156T>C |
Gly52Gly |
M0073702 |
BKFGJPLC_00082 |
83584 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
57G>A |
Val19Val |
M0073703 |
BKFGJPLC_00087 |
87450 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
51G>A |
Val17Val |
M0073704 |
BKFGJPLC_00087 |
87462 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
63G>A |
Leu21Leu |
M0073705 |
BKFGJPLC_00087 |
87472 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
73G>A |
Val25Ile |
M0073706 |
BKFGJPLC_00026 |
27637 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1126C>A |
His376Asn |
M0073707 |
BKFGJPLC_00026 |
27644 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1119C>A |
Asn373Lys |
M0073708 |
BKFGJPLC_00033 |
36642 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
374T>C |
Met125Thr |
M0073709 |
BKFGJPLC_00033 |
39442 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2427G>A |
None |
M0073710 |
BKFGJPLC_00033 |
39796 |
3 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2781T>G |
None |
M0073711 |
BKFGJPLC_00039 |
40536 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
480C>T |
His160His |
M0073712 |
BKFGJPLC_00039 |
40542 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
474G>T |
Gly158Gly |
M0073713 |
BKFGJPLC_00039 |
40548 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
468G>A |
Ala156Ala |
M0073714 |
BKFGJPLC_00039 |
40590 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
426C>T |
Phe142Phe |
M0073715 |
BKFGJPLC_00039 |
40629 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
387G>C |
Val129Val |
M0073716 |
BKFGJPLC_00039 |
40767 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
249C>T |
Gly83Gly |
M0073717 |
BKFGJPLC_00039 |
40807 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
209G>A |
Gly70Asp |
M0073718 |
BKFGJPLC_00040 |
41022 |
3 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
791A>G |
Lys264Arg |
M0073719 |
BKFGJPLC_00042 |
43347 |
3 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
399G>T |
Thr133Thr |
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 |
BKFGJPLC_00005 |
VFG001300 |
Capsule |
71.6 |
5e-247 |
1 |
598 |
0.9983 |
0.9852 |
Immune modulation |
type 8 capsular polysaccharide synthesis protein Cap8D |
experiment |
BKFGJPLC_00005 |
VFG002966 |
Capsule |
85 |
3.4e-295 |
1 |
599 |
1.0 |
1 |
Immune modulation |
polysaccharide biosynthesis protein |
prediction |
BKFGJPLC_00007 |
VFG004457 |
Capsule |
74.5 |
6.3e-96 |
1 |
231 |
0.983 |
0.9914 |
Immune modulation |
polysaccharide biosynthesis tyrosine autokinase |
prediction |
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 |
BKFGJPLC_00018 |
PHI:10470 |
arcA |
77.9 |
1.3e-192 |
1 |
411 |
1.0000 |
1.0000 |
rodents |
skin infection |
arginine deiminase |
unaffected pathogenicity |
BKFGJPLC_00054 |
PHI:11807 |
ohyA |
78.3 |
1.7e-286 |
1 |
591 |
1.0000 |
1.0000 |
rodents |
skin infection; food poisoning; respiratory disease |
oleate hydratase |
reduced virulence |
BKFGJPLC_00093 |
PHI:2634 |
argF |
79.2 |
1.4e-157 |
1 |
332 |
1.0000 |
0.9970 |
rodents |
community-acquired infection; nosocomial infection |
ornithine carbamoyltransferase |
unaffected pathogenicity |
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 |
BKFGJPLC_00024 |
QGR77674.1|GH73 |
97.7 |
0 |
1 |
733 |
1 |
1 |
BKFGJPLC_00089 |
QKH82384.1|CE9 |
100 |
2.73e-283 |
1 |
384 |
1 |
1 |
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 |
BKFGJPLC_00031 |
3.A.1.12.16 |
75.5 |
3.5e-129 |
1 |
312 |
0.9968 |
0.9968 |
3 |
Primary Active Transporters |
3.A |
P-P-bond-hydrolysis-driven transporters |
3.A.1 |
The ATP-binding Cassette (ABC) Superfamily |