Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C1527 |
Reference Plasmid |
1111525849478674_bin.7__k141_222258 |
Reference Plasmid Size |
166530 |
Reference Plasmid GC Content |
0.69 |
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 |
M0004806 |
KBPGMMNJ_00134 |
156225 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
684C>T |
Tyr228Tyr |
M0004807 |
KBPGMMNJ_00134 |
156231 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
678C>G |
Ala226Ala |
M0004808 |
KBPGMMNJ_00134 |
156234 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
675C>T |
Gly225Gly |
M0004809 |
KBPGMMNJ_00134 |
156244 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
665C>G |
Ala222Gly |
M0004810 |
KBPGMMNJ_00134 |
156245 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
664G>A |
Ala222Thr |
M0004811 |
KBPGMMNJ_00134 |
156297 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
612C>G |
Ala204Ala |
M0004812 |
KBPGMMNJ_00134 |
156540 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
369G>C |
Ala123Ala |
M0004813 |
KBPGMMNJ_00132 |
156913 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4863A>G |
None |
M0004814 |
KBPGMMNJ_00135 |
156935 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1371T>C |
His457His |
M0004815 |
KBPGMMNJ_00135 |
156939 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1367C>G |
Ser456Cys |
M0004816 |
KBPGMMNJ_00135 |
156940 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1366T>A |
Ser456Thr |
M0004817 |
KBPGMMNJ_00135 |
156944 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1362G>A |
Glu454Glu |
M0004818 |
KBPGMMNJ_00135 |
156950 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1356G>C |
Thr452Thr |
M0004819 |
KBPGMMNJ_00135 |
156951 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1355C>G |
Thr452Arg |
M0004820 |
KBPGMMNJ_00135 |
157165 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1141C>A |
Arg381Arg |
M0004821 |
KBPGMMNJ_00135 |
157274 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1032A>C |
Ala344Ala |
M0004822 |
KBPGMMNJ_00135 |
157598 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
708A>G |
Ala236Ala |
M0004823 |
KBPGMMNJ_00135 |
158016 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
290G>A |
Arg97Lys |
M0004824 |
KBPGMMNJ_00135 |
158034 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
272C>A |
Ala91Glu |
M0004825 |
KBPGMMNJ_00135 |
158189 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
117A>G |
Pro39Pro |
M0004826 |
KBPGMMNJ_00135 |
158258 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
48C>T |
Leu16Leu |
M0004827 |
KBPGMMNJ_00136 |
158459 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1179G>C |
Leu393Leu |
M0004828 |
KBPGMMNJ_00136 |
158558 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1080C>G |
Arg360Arg |
M0004829 |
KBPGMMNJ_00136 |
158942 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
696G>A |
Val232Val |
M0004830 |
KBPGMMNJ_00136 |
159098 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
540G>A |
Glu180Glu |
M0004831 |
KBPGMMNJ_00136 |
159211 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
427A>G |
Thr143Ala |
M0004832 |
KBPGMMNJ_00136 |
159224 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
414T>C |
Ala138Ala |
M0004833 |
KBPGMMNJ_00134 |
159758 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2850G>A |
None |
M0004834 |
KBPGMMNJ_00134 |
159766 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2858C>T |
None |
M0004835 |
KBPGMMNJ_00134 |
159793 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2885A>G |
None |
M0004836 |
KBPGMMNJ_00137 |
160057 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
156C>T |
Gly52Gly |
M0004837 |
KBPGMMNJ_00138 |
160729 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
361A>G |
Ser121Gly |
M0004838 |
KBPGMMNJ_00138 |
160731 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
363T>C |
Ser121Ser |
M0004839 |
KBPGMMNJ_00138 |
160733 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
365T>G |
Val122Gly |
M0004840 |
KBPGMMNJ_00138 |
160743 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
375G>C |
Ala125Ala |
M0004841 |
KBPGMMNJ_00138 |
160746 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
378T>G |
His126Gln |
M0004842 |
KBPGMMNJ_00138 |
160749 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
381G>T |
Pro127Pro |
M0004843 |
KBPGMMNJ_00139 |
161071 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
8C>T |
Ala3Val |
M0004844 |
KBPGMMNJ_00139 |
161072 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
9C>T |
Ala3Ala |
M0004845 |
KBPGMMNJ_00139 |
161294 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
231T>G |
Gly77Gly |
M0004846 |
KBPGMMNJ_00103 |
113520 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
107G>A |
Arg36His |
M0004847 |
KBPGMMNJ_00103 |
113541 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
128C>A |
Ala43Asp |
M0004848 |
KBPGMMNJ_00103 |
113560 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
147G>A |
Glu49Glu |
M0004849 |
KBPGMMNJ_00103 |
113583 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
170T>C |
Val57Ala |
M0004850 |
KBPGMMNJ_00103 |
113612 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
199C>A |
Arg67Ser |
M0004851 |
KBPGMMNJ_00103 |
113770 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
357T>C |
Asp119Asp |
M0004852 |
KBPGMMNJ_00103 |
113772 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
359A>C |
Glu120Ala |
M0004853 |
KBPGMMNJ_00103 |
113773 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
360A>G |
Glu120Glu |
M0004854 |
KBPGMMNJ_00103 |
114136 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
723C>T |
Tyr241Tyr |
M0004855 |
KBPGMMNJ_00103 |
114250 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
837T>C |
Arg279Arg |
M0004856 |
KBPGMMNJ_00103 |
114268 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
855T>C |
Phe285Phe |
M0004857 |
KBPGMMNJ_00103 |
114484 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1071C>G |
Leu357Leu |
M0004858 |
KBPGMMNJ_00103 |
114490 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1077C>T |
Gly359Gly |
M0004859 |
KBPGMMNJ_00103 |
114598 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1185C>T |
Gly395Gly |
M0004860 |
KBPGMMNJ_00103 |
114868 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1455A>G |
Gln485Gln |
M0004861 |
KBPGMMNJ_00104 |
115160 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
195T>C |
Asn65Asn |
M0004862 |
KBPGMMNJ_00104 |
115400 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
435T>C |
His145His |
M0004863 |
KBPGMMNJ_00104 |
115523 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
558A>G |
Gly186Gly |
M0004864 |
KBPGMMNJ_00101 |
115535 |
6 |
Skin |
0.13 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3794C>T |
None |
M0004865 |
KBPGMMNJ_00105 |
115712 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
924T>C |
Gly308Gly |
M0004866 |
KBPGMMNJ_00105 |
115988 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
648C>G |
Arg216Arg |
M0004867 |
KBPGMMNJ_00105 |
116108 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
528T>C |
Ser176Ser |
M0004868 |
KBPGMMNJ_00105 |
116231 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
405T>C |
Gly135Gly |
M0004869 |
KBPGMMNJ_00105 |
116354 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
282T>C |
Ile94Ile |
M0004870 |
KBPGMMNJ_00044 |
44672 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2181T>C |
Ser727Ser |
M0004871 |
KBPGMMNJ_00044 |
45078 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1775G>A |
Ser592Asn |
M0004872 |
KBPGMMNJ_00044 |
45116 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1737C>A |
Ala579Ala |
M0004873 |
KBPGMMNJ_00044 |
45237 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1616C>A |
Thr539Lys |
M0004874 |
KBPGMMNJ_00044 |
45288 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1565A>C |
Gln522Pro |
M0004875 |
KBPGMMNJ_00044 |
45295 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1558G>A |
Ala520Thr |
M0004876 |
KBPGMMNJ_00044 |
45305 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1548C>A |
Asp516Glu |
M0004877 |
KBPGMMNJ_00044 |
45308 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1545T>G |
Gly515Gly |
M0004878 |
KBPGMMNJ_00044 |
45665 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1188G>C |
Ala396Ala |
M0004879 |
KBPGMMNJ_00044 |
45839 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1014T>C |
Tyr338Tyr |
M0004880 |
KBPGMMNJ_00044 |
45875 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
978G>A |
Thr326Thr |
M0004881 |
KBPGMMNJ_00044 |
45878 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
975C>T |
Pro325Pro |
M0004882 |
KBPGMMNJ_00044 |
45971 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
882G>C |
Pro294Pro |
M0004883 |
KBPGMMNJ_00042 |
47050 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4518A>G |
None |
M0004884 |
KBPGMMNJ_00042 |
47150 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4618G>A |
None |
M0004885 |
KBPGMMNJ_00045 |
47302 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1863G>T |
Leu621Leu |
M0004886 |
KBPGMMNJ_00045 |
47467 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1698C>T |
Cys566Cys |
M0004887 |
KBPGMMNJ_00045 |
47488 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1677C>T |
Arg559Arg |
M0004888 |
KBPGMMNJ_00045 |
47650 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1515A>G |
Thr505Thr |
M0004889 |
KBPGMMNJ_00045 |
47686 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1479A>G |
Glu493Glu |
M0004890 |
KBPGMMNJ_00045 |
48184 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
981T>C |
Phe327Phe |
M0004891 |
KBPGMMNJ_00045 |
48535 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
630G>A |
Glu210Glu |
M0004892 |
KBPGMMNJ_00045 |
48748 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
417G>A |
Glu139Glu |
M0004893 |
KBPGMMNJ_00045 |
48811 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
354G>C |
Leu118Leu |
M0004894 |
KBPGMMNJ_00044 |
49265 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2413T>C |
None |
M0004895 |
KBPGMMNJ_00046 |
49830 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
423A>G |
Val141Val |
M0004896 |
KBPGMMNJ_00047 |
50743 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
393T>C |
Ile131Ile |
M0004897 |
KBPGMMNJ_00047 |
50815 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
465C>A |
Ala155Ala |
M0004898 |
KBPGMMNJ_00047 |
51277 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
927C>G |
Val309Val |
M0004899 |
KBPGMMNJ_00047 |
51280 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
930G>A |
Glu310Glu |
M0004900 |
KBPGMMNJ_00047 |
51298 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
948G>C |
Thr316Thr |
M0004901 |
KBPGMMNJ_00047 |
51299 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
949A>C |
Asn317His |
M0004902 |
KBPGMMNJ_00047 |
51301 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
951C>G |
Asn317Lys |
M0004903 |
KBPGMMNJ_00047 |
51640 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1290G>C |
Val430Val |
M0004904 |
KBPGMMNJ_00047 |
52534 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
2184C>G |
Ala728Ala |
M0004905 |
KBPGMMNJ_00048 |
52739 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
30A>C |
Arg10Ser |
M0004906 |
KBPGMMNJ_00048 |
52784 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
75G>C |
Pro25Pro |
M0004907 |
KBPGMMNJ_00048 |
53147 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
438C>T |
Ala146Ala |
M0004908 |
KBPGMMNJ_00048 |
53262 |
7 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
553C>A |
Gln185Lys |
M0004909 |
KBPGMMNJ_00048 |
53303 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
594G>A |
Gln198Gln |
M0004910 |
KBPGMMNJ_00048 |
53304 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
595T>C |
Leu199Leu |
M0004911 |
KBPGMMNJ_00049 |
53457 |
7 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
402A>C |
Gly134Gly |
M0004912 |
KBPGMMNJ_00049 |
53475 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
384C>T |
Tyr128Tyr |
M0004913 |
KBPGMMNJ_00049 |
53478 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
381G>C |
Ser127Ser |
M0004914 |
KBPGMMNJ_00049 |
53637 |
7 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
222C>G |
Leu74Leu |
M0004915 |
KBPGMMNJ_00049 |
53832 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
27G>A |
Glu9Glu |
M0004916 |
KBPGMMNJ_00050 |
53936 |
7 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1629C>T |
Ile543Ile |
M0004917 |
KBPGMMNJ_00050 |
54026 |
7 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1539T>G |
Leu513Leu |
M0004918 |
KBPGMMNJ_00050 |
54182 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1383A>C |
Gly461Gly |
M0004919 |
KBPGMMNJ_00050 |
54740 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
825C>T |
His275His |
M0004920 |
KBPGMMNJ_00050 |
55205 |
7 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
360T>C |
Asp120Asp |
M0004921 |
KBPGMMNJ_00050 |
55337 |
7 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
228C>G |
Leu76Leu |
M0004922 |
KBPGMMNJ_00050 |
55339 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
226C>T |
Leu76Phe |
M0004923 |
KBPGMMNJ_00049 |
53661 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
198C>T |
Gly66Gly |
M0004924 |
KBPGMMNJ_00050 |
54796 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
769G>A |
Asp257Asn |
M0004925 |
KBPGMMNJ_00057 |
61571 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
300G>C |
Ser100Ser |
M0004926 |
KBPGMMNJ_00057 |
61580 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
309G>C |
Leu103Leu |
M0004927 |
KBPGMMNJ_00057 |
61688 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
417G>A |
Ala139Ala |
M0004928 |
KBPGMMNJ_00057 |
61703 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
432C>A |
Thr144Thr |
M0004929 |
KBPGMMNJ_00057 |
61876 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
605A>G |
Gln202Arg |
M0004930 |
KBPGMMNJ_00057 |
62174 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
903G>C |
Ala301Ala |
M0004931 |
KBPGMMNJ_00057 |
62264 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
993G>A |
Glu331Glu |
M0004932 |
KBPGMMNJ_00057 |
62312 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1041G>A |
Ala347Ala |
M0004933 |
KBPGMMNJ_00053 |
62453 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4938G>A |
None |
M0004934 |
KBPGMMNJ_00058 |
62848 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
393G>C |
Ala131Ala |
M0004935 |
KBPGMMNJ_00058 |
63175 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
720C>A |
Ala240Ala |
M0004936 |
KBPGMMNJ_00058 |
63349 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
894C>T |
Gly298Gly |
M0004937 |
KBPGMMNJ_00058 |
63371 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
916G>A |
Ala306Thr |
M0004938 |
KBPGMMNJ_00058 |
63386 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
931C>A |
Gln311Lys |
M0004939 |
KBPGMMNJ_00059 |
63612 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
159C>T |
Pro53Pro |
M0004940 |
KBPGMMNJ_00059 |
63801 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
348T>C |
Ala116Ala |
M0004941 |
KBPGMMNJ_00059 |
63930 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
477A>C |
Gly159Gly |
M0004942 |
KBPGMMNJ_00059 |
63984 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
531T>C |
Phe177Phe |
M0004943 |
KBPGMMNJ_00059 |
64023 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
570T>C |
Asn190Asn |
M0004944 |
KBPGMMNJ_00059 |
64026 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
573A>G |
Ala191Ala |
M0004945 |
KBPGMMNJ_00059 |
64027 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
574A>C |
Lys192Gln |
M0004946 |
KBPGMMNJ_00059 |
64032 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
579T>G |
Pro193Pro |
M0004947 |
KBPGMMNJ_00059 |
64035 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
582A>C |
Pro194Pro |
M0004948 |
KBPGMMNJ_00059 |
64051 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
598C>G |
Leu200Val |
M0004949 |
KBPGMMNJ_00059 |
64212 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
759T>C |
Thr253Thr |
M0004950 |
KBPGMMNJ_00059 |
64432 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
979C>G |
Gln327Glu |
M0004951 |
KBPGMMNJ_00059 |
64463 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1010C>A |
Ala337Glu |
M0004952 |
KBPGMMNJ_00059 |
64510 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1057A>G |
Thr353Ala |
M0004953 |
KBPGMMNJ_00116 |
131782 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1201A>C |
Ser401Arg |
M0004954 |
KBPGMMNJ_00116 |
131900 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1083C>T |
Pro361Pro |
M0004955 |
KBPGMMNJ_00116 |
131903 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1080T>C |
Gly360Gly |
M0004956 |
KBPGMMNJ_00116 |
131981 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1002C>T |
Phe334Phe |
M0004957 |
KBPGMMNJ_00116 |
132038 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
945C>T |
Pro315Pro |
M0004958 |
KBPGMMNJ_00116 |
132251 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
732T>C |
Asn244Asn |
M0004959 |
KBPGMMNJ_00116 |
132713 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
270G>A |
Ser90Ser |
M0004960 |
KBPGMMNJ_00116 |
132728 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
255G>C |
Ala85Ala |
M0004961 |
KBPGMMNJ_00116 |
132896 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
87G>A |
Arg29Arg |
M0004962 |
KBPGMMNJ_00116 |
132897 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
86G>A |
Arg29Lys |
M0004963 |
KBPGMMNJ_00117 |
133158 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1170T>C |
Gly390Gly |
M0004964 |
KBPGMMNJ_00117 |
133190 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1138C>A |
Leu380Met |
M0004965 |
KBPGMMNJ_00117 |
133380 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
948C>T |
Asp316Asp |
M0004966 |
KBPGMMNJ_00117 |
133383 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
945C>G |
Thr315Thr |
M0004967 |
KBPGMMNJ_00117 |
133509 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
819T>G |
Ser273Ser |
M0004968 |
KBPGMMNJ_00115 |
134354 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2900A>T |
None |
M0004969 |
KBPGMMNJ_00115 |
134356 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2902C>G |
None |
M0004970 |
KBPGMMNJ_00115 |
134376 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2922A>G |
None |
M0004971 |
KBPGMMNJ_00115 |
134471 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3017T>C |
None |
M0004972 |
KBPGMMNJ_00118 |
134676 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
771G>C |
Ala257Ala |
M0004973 |
KBPGMMNJ_00118 |
134827 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
620G>A |
Arg207Lys |
M0004974 |
KBPGMMNJ_00057 |
62339 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1068C>A |
Ile356Ile |
M0004975 |
KBPGMMNJ_00059 |
64329 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
876A>G |
Ala292Ala |
M0004976 |
KBPGMMNJ_00059 |
64578 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1125C>T |
Thr375Thr |
M0004977 |
KBPGMMNJ_00128 |
148439 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
912G>A |
Glu304Glu |
M0004978 |
KBPGMMNJ_00128 |
148814 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1287C>A |
Gly429Gly |
M0004979 |
KBPGMMNJ_00129 |
149439 |
11 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
711A>G |
Arg237Arg |
M0004980 |
KBPGMMNJ_00129 |
150137 |
11 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
13C>G |
Arg5Gly |
M0004981 |
KBPGMMNJ_00125 |
150207 |
11 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4696A>G |
None |
M0004982 |
KBPGMMNJ_00125 |
150209 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4698C>A |
None |
M0004983 |
KBPGMMNJ_00125 |
150210 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4699C>T |
None |
M0004984 |
KBPGMMNJ_00130 |
150322 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
54C>T |
Ala18Ala |
M0004985 |
KBPGMMNJ_00130 |
150470 |
11 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
202T>C |
Leu68Leu |
M0004986 |
KBPGMMNJ_00129 |
150694 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-545C>A |
None |
M0004987 |
KBPGMMNJ_00129 |
150711 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-562A>T |
None |
M0004988 |
KBPGMMNJ_00129 |
150728 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-579G>A |
None |
M0004989 |
KBPGMMNJ_00129 |
150749 |
11 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-600A>G |
None |
M0004990 |
KBPGMMNJ_00131 |
150803 |
11 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
309A>G |
Thr103Thr |
M0004991 |
KBPGMMNJ_00129 |
151201 |
7 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1052C>T |
None |
M0004992 |
KBPGMMNJ_00129 |
151203 |
7 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1054G>C |
None |
M0004993 |
KBPGMMNJ_00129 |
151204 |
7 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1055G>A |
None |
M0004994 |
KBPGMMNJ_00129 |
151205 |
7 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1056G>C |
None |
M0004995 |
KBPGMMNJ_00129 |
151211 |
7 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1062C>T |
None |
M0004996 |
KBPGMMNJ_00129 |
151215 |
7 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1066G>C |
None |
M0004997 |
KBPGMMNJ_00132 |
151511 |
7 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
540C>T |
His180His |
M0004998 |
KBPGMMNJ_00133 |
152685 |
7 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
850C>A |
Pro284Thr |
M0004999 |
KBPGMMNJ_00133 |
152860 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
675G>A |
Ala225Ala |
M0005000 |
KBPGMMNJ_00133 |
153010 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
525G>A |
Val175Val |
M0005001 |
KBPGMMNJ_00133 |
153011 |
7 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
524T>C |
Val175Ala |
M0005002 |
KBPGMMNJ_00133 |
153031 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
504C>T |
Phe168Phe |
M0005003 |
KBPGMMNJ_00133 |
153072 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
463T>C |
Leu155Leu |
M0005004 |
KBPGMMNJ_00133 |
153073 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
462C>G |
Ala154Ala |
M0005005 |
KBPGMMNJ_00133 |
153079 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
456A>G |
Ala152Ala |
M0005006 |
KBPGMMNJ_00133 |
153080 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
455C>T |
Ala152Val |
M0005007 |
KBPGMMNJ_00133 |
153082 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
453G>C |
Ala151Ala |
M0005008 |
KBPGMMNJ_00133 |
153097 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
438C>G |
Ala146Ala |
M0005009 |
KBPGMMNJ_00133 |
153100 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
435G>C |
Thr145Thr |
M0005010 |
KBPGMMNJ_00129 |
153588 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3439G>A |
None |
M0005011 |
KBPGMMNJ_00129 |
153631 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3482T>C |
None |
M0005012 |
KBPGMMNJ_00129 |
153632 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3483T>C |
None |
M0005013 |
KBPGMMNJ_00129 |
153633 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3484T>G |
None |
M0005014 |
KBPGMMNJ_00129 |
153634 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3485C>T |
None |
M0005015 |
KBPGMMNJ_00129 |
153677 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3528C>A |
None |
M0005016 |
KBPGMMNJ_00134 |
153763 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
3146T>C |
Val1049Ala |
M0005017 |
KBPGMMNJ_00134 |
153810 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
3099C>G |
Arg1033Arg |
M0005018 |
KBPGMMNJ_00134 |
154239 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
2670G>A |
Met890Ile |
M0005019 |
KBPGMMNJ_00134 |
154242 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
2667G>C |
Leu889Leu |
M0005020 |
KBPGMMNJ_00134 |
154247 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
2662T>C |
Leu888Leu |
M0005021 |
KBPGMMNJ_00134 |
154260 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
2649G>C |
Val883Val |
M0005022 |
KBPGMMNJ_00134 |
154416 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
2493C>T |
Ile831Ile |
M0005023 |
KBPGMMNJ_00134 |
154606 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
2303A>G |
Lys768Arg |
M0005024 |
KBPGMMNJ_00134 |
154607 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
2302A>C |
Lys768Gln |
M0005025 |
KBPGMMNJ_00134 |
154616 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
2293G>C |
Glu765Gln |
M0005026 |
KBPGMMNJ_00134 |
154620 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
2289G>A |
Val763Val |
M0005027 |
KBPGMMNJ_00134 |
154937 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1972C>A |
Arg658Ser |
M0005028 |
KBPGMMNJ_00103 |
114937 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1524C>T |
Asn508Asn |
M0005029 |
KBPGMMNJ_00104 |
115073 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
108A>G |
Glu36Glu |
M0005030 |
KBPGMMNJ_00105 |
116273 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
363G>T |
Ala121Ala |
M0005031 |
KBPGMMNJ_00106 |
116732 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
492G>C |
Arg164Arg |
M0005032 |
KBPGMMNJ_00106 |
116741 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
483G>C |
Ala161Ala |
M0005033 |
KBPGMMNJ_00106 |
116750 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
474C>T |
Arg158Arg |
M0005034 |
KBPGMMNJ_00106 |
116770 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
454G>A |
Ala152Thr |
M0005035 |
KBPGMMNJ_00106 |
116785 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
439A>C |
Met147Leu |
M0005036 |
KBPGMMNJ_00106 |
116789 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
435T>C |
Arg145Arg |
M0005037 |
KBPGMMNJ_00106 |
116798 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
426G>C |
Pro142Pro |
M0005038 |
KBPGMMNJ_00106 |
117041 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
183C>T |
Asp61Asp |
M0005039 |
KBPGMMNJ_00106 |
117140 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
84T>C |
Arg28Arg |
M0005040 |
KBPGMMNJ_00044 |
50278 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3426C>G |
None |
M0005041 |
KBPGMMNJ_00047 |
51332 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
982A>T |
Thr328Ser |
M0005042 |
KBPGMMNJ_00047 |
52330 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1980T>C |
Tyr660Tyr |
M0005043 |
KBPGMMNJ_00047 |
52555 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2205C>A |
Ala735Ala |
M0005044 |
KBPGMMNJ_00048 |
53228 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
519T>C |
Phe173Phe |
M0005045 |
KBPGMMNJ_00025 |
29025 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
849A>G |
Glu283Glu |
M0005046 |
KBPGMMNJ_00025 |
29073 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
897G>T |
Leu299Leu |
M0005047 |
KBPGMMNJ_00025 |
29085 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
909C>A |
Arg303Arg |
M0005048 |
KBPGMMNJ_00025 |
29115 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
939G>A |
Arg313Arg |
M0005049 |
KBPGMMNJ_00025 |
29151 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
975C>G |
Pro325Pro |
M0005050 |
KBPGMMNJ_00025 |
29163 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
987G>A |
Thr329Thr |
M0005051 |
KBPGMMNJ_00025 |
29181 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1005G>A |
Gly335Gly |
M0005052 |
KBPGMMNJ_00019 |
29297 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4987G>A |
None |
M0005053 |
KBPGMMNJ_00026 |
29534 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
177C>T |
Ala59Ala |
M0005054 |
KBPGMMNJ_00026 |
29753 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
396T>C |
Arg132Arg |
M0005055 |
KBPGMMNJ_00026 |
30285 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
928G>A |
Asp310Asn |
M0005056 |
KBPGMMNJ_00024 |
30316 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2170G>A |
None |
M0005057 |
KBPGMMNJ_00024 |
30317 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2171A>T |
None |
M0005058 |
KBPGMMNJ_00027 |
30614 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
237C>T |
Ser79Ser |
M0005059 |
KBPGMMNJ_00027 |
30665 |
7 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
186C>T |
Gly62Gly |
M0005060 |
KBPGMMNJ_00027 |
30794 |
8 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
57T>G |
Gly19Gly |
M0005061 |
KBPGMMNJ_00028 |
31268 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
147C>G |
Ala49Ala |
M0005062 |
KBPGMMNJ_00028 |
31283 |
8 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
162A>G |
Ala54Ala |
M0005063 |
KBPGMMNJ_00028 |
31673 |
8 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
552C>T |
Ile184Ile |
M0005064 |
KBPGMMNJ_00028 |
32037 |
8 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
916T>C |
Leu306Leu |
M0005065 |
KBPGMMNJ_00028 |
32156 |
8 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1035G>C |
Thr345Thr |
M0005066 |
KBPGMMNJ_00028 |
32198 |
8 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1077C>G |
Leu359Leu |
M0005067 |
KBPGMMNJ_00028 |
32213 |
8 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1092C>T |
Leu364Leu |
M0005068 |
KBPGMMNJ_00028 |
32269 |
8 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
1148C>T |
Ala383Val |
M0005069 |
KBPGMMNJ_00024 |
32335 |
8 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4189C>T |
None |
M0005070 |
KBPGMMNJ_00024 |
32343 |
8 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4197C>T |
None |
M0005071 |
KBPGMMNJ_00024 |
32350 |
8 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4204G>T |
None |
M0005072 |
KBPGMMNJ_00029 |
32575 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
258G>C |
Glu86Asp |
M0005073 |
KBPGMMNJ_00024 |
32922 |
7 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4776T>C |
None |
M0005074 |
KBPGMMNJ_00030 |
33044 |
8 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
84C>T |
Gly28Gly |
M0005075 |
KBPGMMNJ_00030 |
33150 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
190T>C |
Leu64Leu |
M0005076 |
KBPGMMNJ_00030 |
33169 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
209C>T |
Ala70Val |
M0005077 |
KBPGMMNJ_00030 |
33263 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
303G>C |
Val101Val |
M0005078 |
KBPGMMNJ_00127 |
147025 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
573T>C |
His191His |
M0005079 |
KBPGMMNJ_00127 |
147266 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
814C>A |
Leu272Met |
M0005080 |
KBPGMMNJ_00128 |
147800 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
273G>A |
Ala91Ala |
M0005081 |
KBPGMMNJ_00128 |
147815 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
288A>G |
Ser96Ser |
M0005082 |
KBPGMMNJ_00128 |
147906 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
379A>G |
Met127Val |
M0005083 |
KBPGMMNJ_00128 |
147947 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
420T>C |
Ala140Ala |
M0005084 |
KBPGMMNJ_00128 |
148067 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
540G>A |
Val180Val |
M0005085 |
KBPGMMNJ_00128 |
148319 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
792C>T |
Ile264Ile |
M0005086 |
KBPGMMNJ_00129 |
149242 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
908T>C |
Met303Thr |
M0005087 |
KBPGMMNJ_00129 |
149277 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
873C>T |
Ala291Ala |
M0005088 |
KBPGMMNJ_00129 |
149299 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
851C>T |
Ala284Val |
M0005089 |
KBPGMMNJ_00129 |
149532 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
618T>C |
Ala206Ala |
M0005090 |
KBPGMMNJ_00129 |
149667 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
483C>T |
Arg161Arg |
M0005091 |
KBPGMMNJ_00130 |
150517 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
249T>C |
Arg83Arg |
M0005092 |
KBPGMMNJ_00132 |
151895 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
156C>G |
Pro52Pro |
M0005093 |
KBPGMMNJ_00132 |
151904 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
147T>C |
Phe49Phe |
M0005094 |
KBPGMMNJ_00106 |
116895 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
329A>G |
Gln110Arg |
M0005095 |
KBPGMMNJ_00106 |
116945 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
279T>C |
Ser93Ser |
M0005096 |
KBPGMMNJ_00106 |
116957 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
267C>T |
His89His |
M0005097 |
KBPGMMNJ_00106 |
117035 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
189A>G |
Glu63Glu |
M0005098 |
KBPGMMNJ_00109 |
119450 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
3468G>A |
Glu1156Glu |
M0005099 |
KBPGMMNJ_00109 |
119483 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
3435G>A |
Ala1145Ala |
M0005100 |
KBPGMMNJ_00109 |
119501 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
3417G>C |
Ala1139Ala |
M0005101 |
KBPGMMNJ_00109 |
119511 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
3407G>A |
Ser1136Asn |
M0005102 |
KBPGMMNJ_00109 |
119540 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
3378A>G |
Glu1126Glu |
M0005103 |
KBPGMMNJ_00109 |
119576 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
3342A>C |
Glu1114Asp |
M0005104 |
KBPGMMNJ_00109 |
119714 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
3204G>A |
Glu1068Glu |
M0005105 |
KBPGMMNJ_00109 |
119924 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2994G>C |
Ala998Ala |
M0005106 |
KBPGMMNJ_00109 |
119927 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2991A>G |
Gly997Gly |
M0005107 |
KBPGMMNJ_00109 |
119930 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2988G>A |
Ala996Ala |
M0005108 |
KBPGMMNJ_00109 |
119939 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2979T>C |
Pro993Pro |
M0005109 |
KBPGMMNJ_00109 |
119953 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
2965C>A |
Gln989Lys |
M0005110 |
KBPGMMNJ_00109 |
120023 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2895C>G |
Gly965Gly |
M0005111 |
KBPGMMNJ_00109 |
120035 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2883A>C |
Ala961Ala |
M0005112 |
KBPGMMNJ_00109 |
120047 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2871G>A |
Gln957Gln |
M0005113 |
KBPGMMNJ_00109 |
120080 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2838C>T |
Tyr946Tyr |
M0005114 |
KBPGMMNJ_00109 |
120089 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2829C>G |
Ala943Ala |
M0005115 |
KBPGMMNJ_00109 |
120437 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
2481G>T |
Glu827Asp |
M0005116 |
KBPGMMNJ_00058 |
63300 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
845C>T |
Ala282Val |
M0005117 |
KBPGMMNJ_00059 |
63978 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
525G>C |
Gly175Gly |
M0005118 |
KBPGMMNJ_00125 |
144651 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
861T>C |
Gly287Gly |
M0005119 |
KBPGMMNJ_00125 |
144843 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
669T>C |
Thr223Thr |
M0005120 |
KBPGMMNJ_00125 |
145284 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
228C>T |
Thr76Thr |
M0005121 |
KBPGMMNJ_00122 |
145515 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4936T>C |
None |
M0005122 |
KBPGMMNJ_00126 |
145656 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
72C>T |
Phe24Phe |
M0005123 |
KBPGMMNJ_00126 |
145908 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
324T>C |
Ser108Ser |
M0005124 |
KBPGMMNJ_00126 |
145986 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
402T>C |
Ile134Ile |
M0005125 |
KBPGMMNJ_00126 |
146040 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
456A>G |
Lys152Lys |
M0005126 |
KBPGMMNJ_00127 |
146665 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
213C>T |
Gly71Gly |
M0005127 |
KBPGMMNJ_00128 |
148181 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
654A>G |
Glu218Glu |
M0005128 |
KBPGMMNJ_00128 |
148472 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
945A>G |
Glu315Glu |
M0005129 |
KBPGMMNJ_00128 |
148482 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
955G>A |
Gly319Ser |
M0005130 |
KBPGMMNJ_00128 |
148487 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
960C>G |
Ala320Ala |
M0005131 |
KBPGMMNJ_00125 |
149126 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3615G>T |
None |
M0005132 |
KBPGMMNJ_00132 |
151421 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
630C>A |
Gly210Gly |
M0005133 |
KBPGMMNJ_00132 |
151422 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
629G>A |
Gly210Asp |
M0005134 |
KBPGMMNJ_00132 |
151424 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
627A>C |
Gly209Gly |
M0005135 |
KBPGMMNJ_00132 |
151429 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
622A>T |
Ser208Cys |
M0005136 |
KBPGMMNJ_00132 |
151433 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
618T>C |
Ala206Ala |
M0005137 |
KBPGMMNJ_00132 |
151448 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
603T>C |
Pro201Pro |
M0005138 |
KBPGMMNJ_00132 |
151451 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
600C>T |
Gly200Gly |
M0005139 |
KBPGMMNJ_00132 |
151454 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
597G>C |
Val199Val |
M0005140 |
KBPGMMNJ_00132 |
151455 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
596T>C |
Val199Ala |
M0005141 |
KBPGMMNJ_00132 |
151493 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
558G>C |
Ala186Ala |
M0005142 |
KBPGMMNJ_00132 |
151496 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
555T>C |
Arg185Arg |
M0005143 |
KBPGMMNJ_00132 |
151630 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
421C>A |
Leu141Met |
M0005144 |
KBPGMMNJ_00132 |
151811 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
240T>C |
Ala80Ala |
M0005145 |
KBPGMMNJ_00133 |
152647 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
888C>G |
Ala296Ala |
M0005146 |
KBPGMMNJ_00133 |
152650 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
885T>G |
Pro295Pro |
M0005147 |
KBPGMMNJ_00133 |
152677 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
858G>T |
Leu286Leu |
M0005148 |
KBPGMMNJ_00133 |
152680 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
855C>G |
Gly285Gly |
M0005149 |
KBPGMMNJ_00133 |
152681 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
854G>C |
Gly285Ala |
M0005150 |
KBPGMMNJ_00133 |
152683 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
852C>G |
Pro284Pro |
M0005151 |
KBPGMMNJ_00133 |
152716 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
819C>G |
Gly273Gly |
M0005152 |
KBPGMMNJ_00133 |
152746 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
789T>C |
Gly263Gly |
M0005153 |
KBPGMMNJ_00133 |
152767 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
768A>G |
Gly256Gly |
M0005154 |
KBPGMMNJ_00133 |
152826 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
709C>A |
Arg237Ser |
M0005155 |
KBPGMMNJ_00134 |
153795 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
3114C>T |
Asn1038Asn |
M0005156 |
KBPGMMNJ_00134 |
155160 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1749C>T |
Leu583Leu |
M0005157 |
KBPGMMNJ_00134 |
155172 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1737C>G |
Pro579Pro |
M0005158 |
KBPGMMNJ_00134 |
155364 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1545A>G |
Glu515Glu |
M0005159 |
KBPGMMNJ_00134 |
155547 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1362T>C |
Phe454Phe |
M0005160 |
KBPGMMNJ_00134 |
155643 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1266C>G |
Ala422Ala |
M0005161 |
KBPGMMNJ_00134 |
155943 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
966G>T |
Pro322Pro |
M0005162 |
KBPGMMNJ_00134 |
156108 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
801T>C |
Asp267Asp |
M0005163 |
KBPGMMNJ_00134 |
156513 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
396C>T |
Ile132Ile |
M0005164 |
KBPGMMNJ_00024 |
30378 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2232T>C |
None |
M0005165 |
KBPGMMNJ_00027 |
30384 |
3 |
Skin |
0.07 |
protein_coding |
splice_region_variant&stop_retained_variant |
LOW |
467A>G |
Ter156Ter |
M0005166 |
KBPGMMNJ_00027 |
30445 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
406T>C |
Leu136Leu |
M0005167 |
KBPGMMNJ_00027 |
30451 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
400A>G |
Ser134Gly |
M0005168 |
KBPGMMNJ_00027 |
30458 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
393A>C |
Thr131Thr |
M0005169 |
KBPGMMNJ_00027 |
30810 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
41T>C |
Leu14Ser |
M0005170 |
KBPGMMNJ_00027 |
30819 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
32G>A |
Cys11Tyr |
M0005171 |
KBPGMMNJ_00028 |
31349 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
228C>A |
Ala76Ala |
M0005172 |
KBPGMMNJ_00028 |
31352 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
231G>C |
Gly77Gly |
M0005173 |
KBPGMMNJ_00028 |
31511 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
390C>T |
Arg130Arg |
M0005174 |
KBPGMMNJ_00029 |
32408 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
425A>G |
Asp142Gly |
M0005175 |
KBPGMMNJ_00030 |
33212 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
252G>A |
Gln84Gln |
M0005176 |
KBPGMMNJ_00030 |
33426 |
8 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
466A>G |
Ile156Val |
M0005177 |
KBPGMMNJ_00031 |
33783 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
249C>G |
Pro83Pro |
M0005178 |
KBPGMMNJ_00031 |
33906 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
372G>C |
Thr124Thr |
M0005179 |
KBPGMMNJ_00031 |
34099 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
565C>A |
Pro189Thr |
M0005180 |
KBPGMMNJ_00027 |
34827 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3977T>C |
None |
M0005181 |
KBPGMMNJ_00027 |
34836 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3986C>G |
None |
M0005182 |
KBPGMMNJ_00027 |
34838 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3988A>G |
None |
M0005183 |
KBPGMMNJ_00027 |
34895 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4045T>C |
None |
M0005184 |
KBPGMMNJ_00032 |
35116 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
144A>G |
Lys48Lys |
M0005185 |
KBPGMMNJ_00032 |
35128 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
156C>T |
Pro52Pro |
M0005186 |
KBPGMMNJ_00032 |
35182 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
210C>T |
Ala70Ala |
M0005187 |
KBPGMMNJ_00032 |
35359 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
387C>T |
Phe129Phe |
M0005188 |
KBPGMMNJ_00032 |
35395 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
423G>T |
Glu141Asp |
M0005189 |
KBPGMMNJ_00032 |
35401 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
429C>G |
Ala143Ala |
M0005190 |
KBPGMMNJ_00032 |
35407 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
435T>C |
Gly145Gly |
M0005191 |
KBPGMMNJ_00032 |
35635 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
663A>C |
Ala221Ala |
M0005192 |
KBPGMMNJ_00032 |
35650 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
678T>G |
Ala226Ala |
M0005193 |
KBPGMMNJ_00032 |
35651 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
679T>G |
Ser227Ala |
M0005194 |
KBPGMMNJ_00032 |
35776 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
804G>C |
Ala268Ala |
M0005195 |
KBPGMMNJ_00032 |
35779 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
807G>C |
Arg269Arg |
M0005196 |
KBPGMMNJ_00034 |
36414 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
202C>A |
Gln68Lys |
M0005197 |
KBPGMMNJ_00034 |
36449 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
237A>C |
Ala79Ala |
M0005198 |
KBPGMMNJ_00034 |
36503 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
291C>G |
Val97Val |
M0005199 |
KBPGMMNJ_00034 |
36521 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
309C>A |
Ala103Ala |
M0005200 |
KBPGMMNJ_00127 |
146758 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
306G>C |
Val102Val |
M0005201 |
KBPGMMNJ_00127 |
146764 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
312G>A |
Ala104Ala |
M0005202 |
KBPGMMNJ_00128 |
148310 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
783C>G |
Ala261Ala |
M0005203 |
KBPGMMNJ_00129 |
150715 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-566A>G |
None |
M0005204 |
KBPGMMNJ_00131 |
150972 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
140A>C |
Glu47Ala |
M0005205 |
KBPGMMNJ_00133 |
152586 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
949G>A |
Val317Met |
M0005206 |
KBPGMMNJ_00134 |
154356 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2553G>A |
Gln851Gln |
M0005207 |
KBPGMMNJ_00135 |
157640 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
666G>A |
Glu222Glu |
M0005208 |
KBPGMMNJ_00135 |
157664 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
642A>G |
Ala214Ala |
M0005209 |
KBPGMMNJ_00135 |
157667 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
639C>T |
Tyr213Tyr |
M0005210 |
KBPGMMNJ_00135 |
158003 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
303A>C |
Lys101Asn |
M0005211 |
KBPGMMNJ_00102 |
113009 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1272G>C |
Ser424Ser |
M0005212 |
KBPGMMNJ_00102 |
113255 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1518C>A |
Ala506Ala |
M0005213 |
KBPGMMNJ_00102 |
113258 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1521G>A |
Arg507Arg |
M0005214 |
KBPGMMNJ_00023 |
27087 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
111A>G |
Pro37Pro |
M0005215 |
KBPGMMNJ_00023 |
27198 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
222G>C |
Pro74Pro |
M0005216 |
KBPGMMNJ_00024 |
27426 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
721C>T |
Leu241Leu |
M0005217 |
KBPGMMNJ_00024 |
27685 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
462A>C |
Gln154His |
M0005218 |
KBPGMMNJ_00024 |
27710 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
437A>G |
Asp146Gly |
M0005219 |
KBPGMMNJ_00024 |
27810 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
337A>G |
Asn113Asp |
M0005220 |
KBPGMMNJ_00025 |
28487 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
311C>A |
Ala104Glu |
M0005221 |
KBPGMMNJ_00025 |
28509 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
333C>T |
Tyr111Tyr |
M0005222 |
KBPGMMNJ_00025 |
28536 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
360C>G |
Pro120Pro |
M0005223 |
KBPGMMNJ_00025 |
28659 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
483T>C |
Asp161Asp |
M0005224 |
KBPGMMNJ_00025 |
28908 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
732C>T |
His244His |
M0005225 |
KBPGMMNJ_00029 |
32557 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
276G>A |
Thr92Thr |
M0005226 |
KBPGMMNJ_00029 |
32707 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
126G>A |
Gly42Gly |
M0005227 |
KBPGMMNJ_00029 |
32742 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
91A>T |
Thr31Ser |
M0005228 |
KBPGMMNJ_00031 |
33633 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
99G>A |
Thr33Thr |
M0005229 |
KBPGMMNJ_00031 |
33876 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
342T>C |
Phe114Phe |
M0005230 |
KBPGMMNJ_00031 |
33877 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
343G>A |
Ala115Thr |
M0005231 |
KBPGMMNJ_00031 |
33879 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
345G>C |
Ala115Ala |
M0005232 |
KBPGMMNJ_00031 |
34282 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
748G>A |
Ala250Thr |
M0005233 |
KBPGMMNJ_00034 |
36260 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
48C>A |
Ala16Ala |
M0005234 |
KBPGMMNJ_00034 |
36304 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
92C>T |
Ala31Val |
M0005235 |
KBPGMMNJ_00034 |
36713 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
501G>C |
Ala167Ala |
M0005236 |
KBPGMMNJ_00035 |
36893 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
54C>G |
Leu18Leu |
M0005237 |
KBPGMMNJ_00036 |
37604 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
282A>C |
Ala94Ala |
M0005238 |
KBPGMMNJ_00036 |
38612 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1290A>C |
Ala430Ala |
M0005239 |
KBPGMMNJ_00036 |
38663 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1341C>A |
Ile447Ile |
M0005240 |
KBPGMMNJ_00036 |
38840 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1518T>C |
Gly506Gly |
M0005241 |
KBPGMMNJ_00036 |
38915 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1593G>A |
Gln531Gln |
M0005242 |
KBPGMMNJ_00030 |
33364 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
404G>A |
Arg135His |
M0005243 |
KBPGMMNJ_00030 |
33413 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
453C>A |
Gly151Gly |
M0005244 |
KBPGMMNJ_00027 |
33492 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2642T>C |
None |
M0005245 |
KBPGMMNJ_00027 |
34839 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3989C>T |
None |
M0005246 |
KBPGMMNJ_00027 |
34850 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4000G>T |
None |
M0005247 |
KBPGMMNJ_00027 |
34865 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4015C>T |
None |
M0005248 |
KBPGMMNJ_00027 |
34870 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4020C>T |
None |
M0005249 |
KBPGMMNJ_00019 |
29293 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4983C>G |
None |
M0005250 |
KBPGMMNJ_00030 |
33326 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
366T>C |
Gly122Gly |
Analysis of virulence factors contributing to bacterial pathogenicity
This table presents virulence factors identified within the plasmid cluster.
Note: Virulence factor analysis was performed using VFDB. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known virulence factors are listed.
Gene Name |
vf_gene_id |
vf_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
vf_category |
gene_description |
condition |
Analysis of biocide and heavy metal resistance genes to assess antimicrobial risk and environmental impact
This table presents biocides and heavy metals resistance genes identified within the plasmid cluster.
Note: Analyzing biocide and heavy metal resistance genes based on BacMet to evaluate bacterial resistance risk and the potential impact of environmental heavy metal contamination. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, E-value < 1e-5) to known biocide and heavy metal resistance genes are listed.
Gene Name |
compound |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
group |
KBPGMMNJ_00134 |
Cadmium (Cd), Zinc (Zn), Cobalt (Co) |
76.3 |
0 |
1 |
1055 |
0.9991 |
0.9934 |
experiment |
KBPGMMNJ_00134 |
Cadmium (Cd), Zinc (Zn), Cobalt (Co) |
77.7 |
0 |
1 |
1039 |
0.9839 |
0.9784 |
prediction |
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 |
KBPGMMNJ_00114 |
PHI:10513 |
narH |
70.8 |
2.1e-224 |
1 |
512 |
0.9981 |
0.9902 |
rodents |
urinary tract infection |
respiratory nitrate reductase 1 beta chain |
reduced virulence |
Analyzing carbohydrate-active enzyme genes to uncover mechanisms of nutrient degradation
This table presents carbohydrate-active enzyme genes identified within the plasmid cluster.
Note: Annotation of carbohydrate-active enzyme genes was performed using CAZy to explore mechanisms of nutrient breakdown and utilization. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known CAZyme genes are listed.
Gene Name |
cazy_id |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
Analyzing transport proteins to understand bacterial strategies for substrate uptake and detoxification
This table presents transport proteins within the plasmid cluster.
Note: Investigation of transport proteins based on TCDB to uncover bacterial mechanisms of substrate transport and environmental detoxification. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known transport protein entries are listed.
Gene Name |
tcid |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
class_field |
class_term |
subclass |
subclass_term |
family |
family_term |
KBPGMMNJ_00114 |
5.A.3.1.1 |
70.8 |
4.7e-224 |
1 |
512 |
0.9981 |
2.2533 |
5 |
Transmembrane Electron Carriers |
5.A |
Transmembrane 2-electron transfer carriers |
5.A.3 |
The Prokaryotic Molybdopterin-containing Oxidoreductase (PMO) Family |
KBPGMMNJ_00134 |
2.A.6.1.2 |
76.3 |
0 |
1 |
1055 |
0.9981 |
0.9934 |
2 |
Electrochemical Potential-driven Transporters |
2.A |
Porters (uniporters, symporters, antiporters) |
2.A.6 |
The Resistance-Nodulation-Cell Division (RND) Superfamily |