Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C2359 |
Reference Plasmid |
1111525849768046_bin.24__k141_154695 |
Reference Plasmid Size |
18589 |
Reference Plasmid GC Content |
0.72 |
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 |
M0040970 |
KKGGLBHG_00018 |
14634 |
10 |
Skin |
0.48 |
protein_coding |
missense_variant |
MODERATE |
640T>C |
Phe214Leu |
M0040971 |
KKGGLBHG_00018 |
14654 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
660C>T |
Gly220Gly |
M0040972 |
KKGGLBHG_00018 |
14663 |
4 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
669C>T |
Asp223Asp |
M0040973 |
KKGGLBHG_00018 |
14672 |
9 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
678A>G |
Glu226Glu |
M0040974 |
KKGGLBHG_00018 |
14687 |
10 |
Skin |
0.48 |
protein_coding |
synonymous_variant |
LOW |
693G>T |
Ala231Ala |
M0040975 |
KKGGLBHG_00018 |
14696 |
10 |
Skin |
0.48 |
protein_coding |
synonymous_variant |
LOW |
702T>C |
Asp234Asp |
M0040976 |
KKGGLBHG_00018 |
14711 |
10 |
Skin |
0.48 |
protein_coding |
synonymous_variant |
LOW |
717A>G |
Ala239Ala |
M0040977 |
KKGGLBHG_00013 |
14749 |
4 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3776C>A |
None |
M0040978 |
KKGGLBHG_00013 |
14754 |
4 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3781A>G |
None |
M0040979 |
KKGGLBHG_00019 |
14866 |
8 |
Skin |
0.38 |
protein_coding |
missense_variant |
MODERATE |
95A>G |
Asp32Gly |
M0040980 |
KKGGLBHG_00019 |
14873 |
9 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
102T>A |
Ala34Ala |
M0040981 |
KKGGLBHG_00013 |
14947 |
4 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3974T>G |
None |
M0040982 |
KKGGLBHG_00013 |
15000 |
4 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4027T>C |
None |
M0040983 |
KKGGLBHG_00020 |
15043 |
6 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
14T>C |
Val5Ala |
M0040984 |
KKGGLBHG_00020 |
15048 |
6 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
19T>C |
Phe7Leu |
M0040985 |
KKGGLBHG_00020 |
15165 |
11 |
Skin |
0.52 |
protein_coding |
synonymous_variant |
LOW |
136T>C |
Leu46Leu |
M0040986 |
KKGGLBHG_00020 |
15167 |
10 |
Skin |
0.48 |
protein_coding |
synonymous_variant |
LOW |
138A>G |
Leu46Leu |
M0040987 |
KKGGLBHG_00020 |
15191 |
4 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
162T>C |
Pro54Pro |
M0040988 |
KKGGLBHG_00020 |
15237 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
208A>G |
Ser70Gly |
M0040989 |
KKGGLBHG_00020 |
15242 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
213T>C |
Asp71Asp |
M0040990 |
KKGGLBHG_00020 |
15451 |
11 |
Skin |
0.52 |
protein_coding |
missense_variant |
MODERATE |
422T>G |
Leu141Arg |
M0040991 |
KKGGLBHG_00020 |
15482 |
6 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
453A>G |
Ala151Ala |
M0040992 |
KKGGLBHG_00020 |
15515 |
10 |
Skin |
0.48 |
protein_coding |
synonymous_variant |
LOW |
486A>G |
Gly162Gly |
M0040993 |
KKGGLBHG_00020 |
15517 |
10 |
Skin |
0.48 |
protein_coding |
missense_variant |
MODERATE |
488A>G |
Asp163Gly |
M0040994 |
KKGGLBHG_00020 |
15661 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
632T>C |
Val211Ala |
M0040995 |
KKGGLBHG_00020 |
15667 |
10 |
Skin |
0.48 |
protein_coding |
missense_variant |
MODERATE |
638G>A |
Gly213Glu |
M0040996 |
KKGGLBHG_00020 |
15674 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
645T>C |
Asp215Asp |
M0040997 |
KKGGLBHG_00020 |
15699 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
670G>A |
Asp224Asn |
M0040998 |
KKGGLBHG_00020 |
15837 |
5 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
808A>G |
Asn270Asp |
M0040999 |
KKGGLBHG_00020 |
15839 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
810T>A |
Asn270Lys |
M0041000 |
KKGGLBHG_00020 |
15848 |
5 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
819T>C |
Leu273Leu |
M0041001 |
KKGGLBHG_00021 |
16041 |
7 |
Skin |
0.33 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-240A>G |
None |
M0041002 |
KKGGLBHG_00021 |
16042 |
7 |
Skin |
0.33 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-239G>A |
None |
M0041003 |
KKGGLBHG_00021 |
16045 |
7 |
Skin |
0.33 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-236T>G |
None |
M0041004 |
KKGGLBHG_00021 |
16046 |
7 |
Skin |
0.33 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-235C>T |
None |
M0041005 |
KKGGLBHG_00021 |
16204 |
7 |
Skin |
0.33 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-77T>C |
None |
M0041006 |
KKGGLBHG_00021 |
16247 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-34C>T |
None |
M0041007 |
KKGGLBHG_00021 |
16252 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-29C>T |
None |
M0041008 |
KKGGLBHG_00021 |
16294 |
4 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
14T>G |
Ile5Ser |
M0041009 |
KKGGLBHG_00021 |
16730 |
12 |
Skin |
0.57 |
protein_coding |
synonymous_variant |
LOW |
450G>C |
Arg150Arg |
M0041010 |
KKGGLBHG_00021 |
16808 |
8 |
Skin |
0.38 |
protein_coding |
synonymous_variant |
LOW |
528A>C |
Ala176Ala |
M0041011 |
KKGGLBHG_00021 |
16865 |
11 |
Skin |
0.52 |
protein_coding |
synonymous_variant |
LOW |
585C>T |
Asp195Asp |
M0041012 |
KKGGLBHG_00021 |
16954 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
674G>C |
Ser225Thr |
M0041013 |
KKGGLBHG_00009 |
7904 |
4 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
47C>A |
Ala16Glu |
M0041014 |
KKGGLBHG_00009 |
7908 |
4 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
51T>C |
Arg17Arg |
M0041015 |
KKGGLBHG_00009 |
7945 |
5 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
88A>G |
Lys30Glu |
M0041016 |
KKGGLBHG_00009 |
7978 |
5 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
121G>A |
Val41Met |
M0041017 |
KKGGLBHG_00009 |
8022 |
5 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
165A>G |
Leu55Leu |
M0041018 |
KKGGLBHG_00009 |
8025 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
168T>C |
Tyr56Tyr |
M0041019 |
KKGGLBHG_00009 |
8065 |
5 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
208G>C |
Val70Leu |
M0041020 |
KKGGLBHG_00009 |
8094 |
6 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
237A>G |
Glu79Glu |
M0041021 |
KKGGLBHG_00010 |
8516 |
5 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
246C>G |
Leu82Leu |
M0041022 |
KKGGLBHG_00010 |
8636 |
5 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
366T>C |
Gly122Gly |
M0041023 |
KKGGLBHG_00010 |
8639 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
369G>A |
Ala123Ala |
M0041024 |
KKGGLBHG_00010 |
8662 |
5 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
392T>C |
Leu131Pro |
M0041025 |
KKGGLBHG_00010 |
8689 |
3 |
Skin |
0.14 |
protein_coding |
stop_gained |
HIGH |
419C>G |
Ser140* |
M0041026 |
KKGGLBHG_00010 |
8701 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
431C>G |
Ala144Gly |
M0041027 |
KKGGLBHG_00010 |
8712 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
442G>A |
Ala148Thr |
M0041028 |
KKGGLBHG_00010 |
8716 |
4 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
446A>C |
Glu149Ala |
M0041029 |
KKGGLBHG_00011 |
8793 |
5 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
231G>C |
Ala77Ala |
M0041030 |
KKGGLBHG_00011 |
8799 |
5 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
225C>G |
Pro75Pro |
M0041031 |
KKGGLBHG_00011 |
8841 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
183A>G |
Leu61Leu |
M0041032 |
KKGGLBHG_00011 |
8948 |
5 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
76C>T |
Leu26Leu |
M0041033 |
KKGGLBHG_00011 |
8958 |
5 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
66G>C |
Leu22Leu |
M0041034 |
KKGGLBHG_00011 |
8962 |
5 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
62T>C |
Ile21Thr |
M0041035 |
KKGGLBHG_00011 |
8991 |
4 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
33A>G |
Gly11Gly |
M0041036 |
KKGGLBHG_00011 |
9032 |
5 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-9A>T |
None |
M0041037 |
KKGGLBHG_00011 |
9093 |
5 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-70A>G |
None |
M0041038 |
KKGGLBHG_00011 |
9128 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-105T>A |
None |
M0041039 |
KKGGLBHG_00012 |
9174 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
16G>A |
Gly6Ser |
M0041040 |
KKGGLBHG_00012 |
9198 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
40T>G |
Ser14Ala |
M0041041 |
KKGGLBHG_00011 |
9614 |
4 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-591C>T |
None |
M0041042 |
KKGGLBHG_00011 |
9622 |
4 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-599C>T |
None |
M0041043 |
KKGGLBHG_00011 |
9643 |
4 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-620C>T |
None |
M0041044 |
KKGGLBHG_00011 |
9690 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-667T>C |
None |
M0041045 |
KKGGLBHG_00011 |
9692 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-669C>T |
None |
M0041046 |
KKGGLBHG_00013 |
9753 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1221C>T |
Arg407Arg |
M0041047 |
KKGGLBHG_00013 |
9785 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
1189C>T |
Arg397Trp |
M0041048 |
KKGGLBHG_00013 |
9895 |
4 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
1079G>A |
Gly360Glu |
M0041049 |
KKGGLBHG_00013 |
9957 |
4 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
1017C>G |
Leu339Leu |
M0041050 |
KKGGLBHG_00013 |
10068 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
906A>G |
Gln302Gln |
M0041051 |
KKGGLBHG_00013 |
10074 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
900C>T |
Ala300Ala |
M0041052 |
KKGGLBHG_00013 |
10300 |
5 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
674T>C |
Met225Thr |
M0041053 |
KKGGLBHG_00013 |
10653 |
4 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
321G>C |
Val107Val |
M0041054 |
KKGGLBHG_00013 |
10685 |
5 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
289T>G |
Ser97Ala |
M0041055 |
KKGGLBHG_00013 |
10776 |
5 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
198T>C |
Arg66Arg |
M0041056 |
KKGGLBHG_00011 |
11014 |
4 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1991T>C |
None |
M0041057 |
KKGGLBHG_00011 |
11020 |
5 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1997C>T |
None |
M0041058 |
KKGGLBHG_00011 |
11139 |
4 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2116C>T |
None |
M0041059 |
KKGGLBHG_00011 |
11171 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2148C>T |
None |
M0041060 |
KKGGLBHG_00014 |
11229 |
4 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
38C>T |
Pro13Leu |
M0041061 |
KKGGLBHG_00014 |
11322 |
4 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
131G>A |
Cys44Tyr |
M0041062 |
KKGGLBHG_00011 |
11387 |
4 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2364A>C |
None |
M0041063 |
KKGGLBHG_00011 |
11403 |
4 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2380G>T |
None |
M0041064 |
KKGGLBHG_00011 |
11420 |
4 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2397A>C |
None |
M0041065 |
KKGGLBHG_00011 |
11424 |
4 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2401A>C |
None |
M0041066 |
KKGGLBHG_00015 |
11475 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
48A>G |
Gln16Gln |
M0041067 |
KKGGLBHG_00015 |
11505 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
78C>T |
Ala26Ala |
M0041068 |
KKGGLBHG_00015 |
11530 |
5 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
103A>G |
Met35Val |
M0041069 |
KKGGLBHG_00015 |
11571 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
144C>T |
Arg48Arg |
M0041070 |
KKGGLBHG_00015 |
11652 |
6 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
225C>T |
Asp75Asp |
M0041071 |
KKGGLBHG_00015 |
11653 |
7 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
226A>G |
Thr76Ala |
M0041072 |
KKGGLBHG_00015 |
11685 |
6 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
258C>G |
Thr86Thr |
M0041073 |
KKGGLBHG_00015 |
11688 |
6 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
261C>A |
Gly87Gly |
M0041074 |
KKGGLBHG_00015 |
11943 |
7 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
516T>C |
Gly172Gly |
M0041075 |
KKGGLBHG_00015 |
12066 |
6 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
639C>A |
Arg213Arg |
M0041076 |
KKGGLBHG_00015 |
12078 |
6 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
651G>A |
Val217Val |
M0041077 |
KKGGLBHG_00015 |
12225 |
4 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
798C>A |
Ser266Ser |
M0041078 |
KKGGLBHG_00015 |
12291 |
8 |
Skin |
0.38 |
protein_coding |
synonymous_variant |
LOW |
864T>C |
Pro288Pro |
M0041079 |
KKGGLBHG_00015 |
12351 |
4 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
924G>A |
Glu308Glu |
M0041080 |
KKGGLBHG_00015 |
12402 |
9 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
975T>C |
Thr325Thr |
M0041081 |
KKGGLBHG_00015 |
12429 |
9 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
1002A>G |
Arg334Arg |
M0041082 |
KKGGLBHG_00015 |
12474 |
6 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
1047T>C |
His349His |
M0041083 |
KKGGLBHG_00015 |
12485 |
6 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
1058C>T |
Ala353Val |
M0041084 |
KKGGLBHG_00015 |
12492 |
4 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
1065T>G |
Gly355Gly |
M0041085 |
KKGGLBHG_00015 |
12546 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1119G>T |
Ala373Ala |
M0041086 |
KKGGLBHG_00015 |
12553 |
4 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
1126C>G |
Pro376Ala |
M0041087 |
KKGGLBHG_00015 |
12555 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1128G>C |
Pro376Pro |
M0041088 |
KKGGLBHG_00015 |
12558 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1131C>G |
Val377Val |
M0041089 |
KKGGLBHG_00015 |
12562 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
1135A>G |
Ser379Gly |
M0041090 |
KKGGLBHG_00015 |
12563 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
1136G>C |
Ser379Thr |
M0041091 |
KKGGLBHG_00015 |
12564 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1137C>T |
Ser379Ser |
M0041092 |
KKGGLBHG_00016 |
13170 |
7 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
301C>G |
Gln101Glu |
M0041093 |
KKGGLBHG_00011 |
13212 |
5 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4189G>T |
None |
M0041094 |
KKGGLBHG_00011 |
13217 |
7 |
Skin |
0.33 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4194G>C |
None |
M0041095 |
KKGGLBHG_00011 |
13230 |
5 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4207A>G |
None |
M0041096 |
KKGGLBHG_00017 |
13238 |
7 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
7T>C |
Tyr3His |
M0041097 |
KKGGLBHG_00017 |
13380 |
9 |
Skin |
0.43 |
protein_coding |
missense_variant |
MODERATE |
149C>T |
Ala50Val |
M0041098 |
KKGGLBHG_00017 |
13639 |
5 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
408C>G |
Ile136Met |
M0041099 |
KKGGLBHG_00017 |
13659 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
428A>G |
Glu143Gly |
M0041100 |
KKGGLBHG_00017 |
13669 |
4 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
438C>T |
His146His |
M0041101 |
KKGGLBHG_00017 |
13678 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
447C>T |
His149His |
M0041102 |
KKGGLBHG_00017 |
13729 |
9 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
498A>G |
Pro166Pro |
M0041103 |
KKGGLBHG_00017 |
13732 |
9 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
501A>G |
Gly167Gly |
M0041104 |
KKGGLBHG_00017 |
13777 |
10 |
Skin |
0.48 |
protein_coding |
synonymous_variant |
LOW |
546A>G |
Val182Val |
M0041105 |
KKGGLBHG_00017 |
13804 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
573G>A |
Gly191Gly |
M0041106 |
KKGGLBHG_00017 |
13810 |
9 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
579T>C |
Gly193Gly |
M0041107 |
KKGGLBHG_00017 |
13821 |
9 |
Skin |
0.43 |
protein_coding |
missense_variant |
MODERATE |
590T>G |
Leu197Arg |
M0041108 |
KKGGLBHG_00017 |
13822 |
9 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
591T>G |
Leu197Leu |
M0041109 |
KKGGLBHG_00011 |
13846 |
4 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4823C>A |
None |
M0041110 |
KKGGLBHG_00011 |
13848 |
8 |
Skin |
0.38 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4825A>G |
None |
M0041111 |
KKGGLBHG_00011 |
13851 |
4 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4828A>G |
None |
M0041112 |
KKGGLBHG_00011 |
13852 |
4 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4829G>C |
None |
M0041113 |
KKGGLBHG_00011 |
13854 |
8 |
Skin |
0.38 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4831T>A |
None |
M0041114 |
KKGGLBHG_00011 |
13864 |
4 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4841C>G |
None |
M0041115 |
KKGGLBHG_00011 |
13940 |
8 |
Skin |
0.38 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4917A>G |
None |
M0041116 |
KKGGLBHG_00011 |
13961 |
8 |
Skin |
0.38 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4938C>G |
None |
M0041117 |
KKGGLBHG_00011 |
13967 |
5 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4944G>A |
None |
M0041118 |
KKGGLBHG_00018 |
14015 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
21C>G |
Cys7Trp |
M0041119 |
KKGGLBHG_00018 |
14021 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
27G>A |
Glu9Glu |
M0041120 |
KKGGLBHG_00018 |
14022 |
4 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
28T>C |
Cys10Arg |
M0041121 |
KKGGLBHG_00018 |
14083 |
9 |
Skin |
0.43 |
protein_coding |
missense_variant |
MODERATE |
89T>G |
Leu30Arg |
M0041122 |
KKGGLBHG_00018 |
14088 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
94G>A |
Val32Met |
M0041123 |
KKGGLBHG_00018 |
14094 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
100C>A |
Arg34Arg |
M0041124 |
KKGGLBHG_00018 |
14244 |
10 |
Skin |
0.48 |
protein_coding |
missense_variant |
MODERATE |
250C>T |
Leu84Phe |
M0041125 |
KKGGLBHG_00018 |
14278 |
4 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
284T>C |
Val95Ala |
M0041126 |
KKGGLBHG_00018 |
14279 |
9 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
285T>C |
Val95Val |
M0041127 |
KKGGLBHG_00018 |
14407 |
7 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
413T>C |
Val138Ala |
M0041128 |
KKGGLBHG_00018 |
14451 |
6 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
457G>C |
Asp153His |
M0041129 |
KKGGLBHG_00018 |
14452 |
6 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
458A>G |
Asp153Gly |
M0041130 |
KKGGLBHG_00018 |
14455 |
6 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
461G>A |
Arg154Lys |
M0041131 |
KKGGLBHG_00018 |
14460 |
6 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
466C>G |
Arg156Gly |
M0041132 |
KKGGLBHG_00018 |
14461 |
6 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
467G>C |
Arg156Pro |
M0041133 |
KKGGLBHG_00018 |
14462 |
7 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
468G>C |
Arg156Arg |
M0041134 |
KKGGLBHG_00018 |
14471 |
6 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
477C>G |
Val159Val |
M0041135 |
KKGGLBHG_00018 |
14472 |
6 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
478A>G |
Thr160Ala |
M0041136 |
KKGGLBHG_00018 |
14473 |
6 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
479C>A |
Thr160Lys |
M0041137 |
KKGGLBHG_00018 |
14502 |
4 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
508A>G |
Lys170Glu |
M0041138 |
KKGGLBHG_00019 |
14833 |
6 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
62T>G |
Leu21Arg |
M0041139 |
KKGGLBHG_00019 |
14861 |
6 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
90G>A |
Leu30Leu |
M0041140 |
KKGGLBHG_00019 |
14872 |
6 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
101C>T |
Ala34Val |
M0041141 |
KKGGLBHG_00019 |
14889 |
6 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
118G>A |
Val40Ile |
M0041142 |
KKGGLBHG_00019 |
14890 |
6 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
119T>A |
Val40Asp |
M0041143 |
KKGGLBHG_00019 |
14891 |
6 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
120C>T |
Val40Val |
M0041144 |
KKGGLBHG_00019 |
14900 |
6 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
129C>A |
Pro43Pro |
M0041145 |
KKGGLBHG_00019 |
14916 |
6 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
145C>T |
Leu49Leu |
M0041146 |
KKGGLBHG_00013 |
14931 |
7 |
Skin |
0.33 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3958C>G |
None |
M0041147 |
KKGGLBHG_00013 |
14941 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3968G>A |
None |
M0041148 |
KKGGLBHG_00013 |
14969 |
7 |
Skin |
0.33 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3996T>C |
None |
M0041149 |
KKGGLBHG_00013 |
14990 |
7 |
Skin |
0.33 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4017G>A |
None |
M0041150 |
KKGGLBHG_00020 |
15128 |
4 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
99T>C |
Gly33Gly |
M0041151 |
KKGGLBHG_00020 |
15132 |
4 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
103C>G |
Arg35Gly |
M0041152 |
KKGGLBHG_00020 |
15630 |
4 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
601A>C |
Met201Leu |
M0041153 |
KKGGLBHG_00020 |
15929 |
8 |
Skin |
0.38 |
protein_coding |
synonymous_variant |
LOW |
900C>T |
His300His |
M0041154 |
KKGGLBHG_00021 |
16099 |
8 |
Skin |
0.38 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-182G>C |
None |
M0041155 |
KKGGLBHG_00021 |
16180 |
8 |
Skin |
0.38 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-101G>C |
None |
M0041156 |
KKGGLBHG_00021 |
16181 |
8 |
Skin |
0.38 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-100A>G |
None |
M0041157 |
KKGGLBHG_00021 |
16706 |
7 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
426G>T |
Ala142Ala |
M0041158 |
KKGGLBHG_00021 |
16886 |
10 |
Skin |
0.48 |
protein_coding |
synonymous_variant |
LOW |
606T>C |
Ala202Ala |
M0041159 |
KKGGLBHG_00011 |
13882 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4859G>A |
None |
M0041160 |
KKGGLBHG_00011 |
13883 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4860A>G |
None |
M0041161 |
KKGGLBHG_00020 |
15650 |
6 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
621T>C |
Arg207Arg |
M0041162 |
KKGGLBHG_00020 |
15668 |
6 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
639G>A |
Gly213Gly |
M0041163 |
KKGGLBHG_00020 |
15670 |
6 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
641C>T |
Ala214Val |
M0041164 |
KKGGLBHG_00020 |
15672 |
6 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
643G>C |
Asp215His |
M0041165 |
KKGGLBHG_00021 |
16977 |
5 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
697C>A |
Pro233Thr |
M0041166 |
KKGGLBHG_00021 |
16997 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
717A>G |
Ala239Ala |
M0041167 |
KKGGLBHG_00022 |
17128 |
11 |
Skin |
0.52 |
protein_coding |
synonymous_variant |
LOW |
120T>C |
Leu40Leu |
M0041168 |
KKGGLBHG_00022 |
17155 |
11 |
Skin |
0.52 |
protein_coding |
synonymous_variant |
LOW |
147A>G |
Ala49Ala |
M0041169 |
KKGGLBHG_00022 |
17240 |
11 |
Skin |
0.52 |
protein_coding |
missense_variant |
MODERATE |
232A>G |
Ser78Gly |
M0041170 |
KKGGLBHG_00023 |
17401 |
10 |
Skin |
0.48 |
protein_coding |
missense_variant |
MODERATE |
34A>G |
Lys12Glu |
M0041171 |
KKGGLBHG_00023 |
17404 |
10 |
Skin |
0.48 |
protein_coding |
missense_variant |
MODERATE |
37T>G |
Ser13Ala |
M0041172 |
KKGGLBHG_00023 |
17460 |
10 |
Skin |
0.48 |
protein_coding |
synonymous_variant |
LOW |
93T>C |
Val31Val |
M0041173 |
KKGGLBHG_00023 |
17463 |
10 |
Skin |
0.48 |
protein_coding |
synonymous_variant |
LOW |
96T>C |
Ala32Ala |
M0041174 |
KKGGLBHG_00023 |
17470 |
5 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
103T>G |
Ser35Ala |
M0041175 |
KKGGLBHG_00023 |
17689 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
322G>A |
Val108Ile |
M0041176 |
KKGGLBHG_00023 |
17708 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
341T>C |
Val114Ala |
M0041177 |
KKGGLBHG_00023 |
17751 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
384G>A |
Arg128Arg |
M0041178 |
KKGGLBHG_00023 |
17752 |
6 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
385G>C |
Ala129Pro |
M0041179 |
KKGGLBHG_00023 |
17753 |
6 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
386C>T |
Ala129Val |
M0041180 |
KKGGLBHG_00023 |
17823 |
10 |
Skin |
0.48 |
protein_coding |
synonymous_variant |
LOW |
456C>G |
Ala152Ala |
M0041181 |
KKGGLBHG_00023 |
17922 |
11 |
Skin |
0.52 |
protein_coding |
synonymous_variant |
LOW |
555A>G |
Arg185Arg |
M0041182 |
KKGGLBHG_00023 |
17923 |
11 |
Skin |
0.52 |
protein_coding |
synonymous_variant |
LOW |
556T>C |
Leu186Leu |
M0041183 |
KKGGLBHG_00023 |
18006 |
7 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
639A>G |
Glu213Glu |
M0041184 |
KKGGLBHG_00023 |
18009 |
8 |
Skin |
0.38 |
protein_coding |
synonymous_variant |
LOW |
642C>G |
Gly214Gly |
M0041185 |
KKGGLBHG_00023 |
18054 |
6 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
687T>C |
Gly229Gly |
M0041186 |
KKGGLBHG_00016 |
18147 |
8 |
Skin |
0.38 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4939G>T |
None |
M0041187 |
KKGGLBHG_00016 |
18162 |
6 |
Skin |
0.29 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4954G>C |
None |
M0041188 |
KKGGLBHG_00016 |
18204 |
10 |
Skin |
0.48 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4996T>C |
None |
M0041189 |
KKGGLBHG_00017 |
18274 |
8 |
Skin |
0.38 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4446T>C |
None |
M0041190 |
KKGGLBHG_00017 |
18481 |
4 |
Skin |
0.19 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4653C>A |
None |
M0041191 |
KKGGLBHG_00017 |
18512 |
10 |
Skin |
0.48 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4684A>G |
None |
M0041192 |
KKGGLBHG_00017 |
18528 |
5 |
Skin |
0.24 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4700A>G |
None |
M0041193 |
KKGGLBHG_00016 |
13035 |
5 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
166A>G |
Thr56Ala |
M0041194 |
KKGGLBHG_00011 |
13210 |
5 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4187G>A |
None |
M0041195 |
KKGGLBHG_00017 |
13382 |
6 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
151A>G |
Ile51Val |
M0041196 |
KKGGLBHG_00020 |
15199 |
4 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
170C>T |
Ala57Val |
M0041197 |
KKGGLBHG_00021 |
16288 |
5 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
8C>T |
Pro3Leu |
M0041198 |
KKGGLBHG_00021 |
16957 |
4 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
677G>T |
Gly226Val |
M0041199 |
KKGGLBHG_00023 |
17478 |
6 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
111C>T |
Arg37Arg |
M0041200 |
KKGGLBHG_00023 |
17619 |
8 |
Skin |
0.38 |
protein_coding |
synonymous_variant |
LOW |
252T>C |
Gly84Gly |
M0041201 |
KKGGLBHG_00017 |
18519 |
4 |
Skin |
0.19 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4691G>A |
None |
M0041202 |
KKGGLBHG_00013 |
10325 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
649C>T |
Leu217Phe |
M0041203 |
KKGGLBHG_00013 |
10434 |
4 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
540T>C |
Asp180Asp |
M0041204 |
KKGGLBHG_00013 |
10840 |
4 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
134G>A |
Gly45Asp |
M0041205 |
KKGGLBHG_00015 |
11587 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
160T>C |
Phe54Leu |
M0041206 |
KKGGLBHG_00015 |
11601 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
174C>T |
Ser58Ser |
M0041207 |
KKGGLBHG_00015 |
12060 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
633C>T |
Tyr211Tyr |
M0041208 |
KKGGLBHG_00015 |
12543 |
6 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
1116C>T |
Gly372Gly |
M0041209 |
KKGGLBHG_00015 |
12545 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
1118C>T |
Ala373Val |
M0041210 |
KKGGLBHG_00011 |
12687 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3664A>G |
None |
M0041211 |
KKGGLBHG_00011 |
12696 |
4 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3673G>A |
None |
M0041212 |
KKGGLBHG_00011 |
12830 |
4 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3807T>C |
None |
M0041213 |
KKGGLBHG_00016 |
13181 |
4 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
312C>T |
Ala104Ala |
M0041214 |
KKGGLBHG_00017 |
13288 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
57G>C |
Leu19Leu |
M0041215 |
KKGGLBHG_00017 |
13423 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
192C>G |
Ala64Ala |
M0041216 |
KKGGLBHG_00017 |
13807 |
4 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
576C>T |
Ser192Ser |
M0041217 |
KKGGLBHG_00011 |
13855 |
4 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4832C>A |
None |
M0041218 |
KKGGLBHG_00018 |
14024 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
30C>T |
Cys10Cys |
M0041219 |
KKGGLBHG_00018 |
14126 |
6 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
132G>A |
Gly44Gly |
M0041220 |
KKGGLBHG_00018 |
14186 |
5 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
192C>T |
Phe64Phe |
M0041221 |
KKGGLBHG_00018 |
14390 |
5 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
396C>T |
Ala132Ala |
M0041222 |
KKGGLBHG_00020 |
15055 |
5 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
26C>A |
Ala9Glu |
M0041223 |
KKGGLBHG_00020 |
15307 |
4 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
278A>G |
Asp93Gly |
M0041224 |
KKGGLBHG_00020 |
15341 |
4 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
312C>T |
Thr104Thr |
M0041225 |
KKGGLBHG_00020 |
15380 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
351G>A |
Pro117Pro |
M0041226 |
KKGGLBHG_00020 |
15408 |
4 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
379A>T |
Thr127Ser |
M0041227 |
KKGGLBHG_00020 |
15452 |
5 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
423G>C |
Leu141Leu |
M0041228 |
KKGGLBHG_00020 |
15470 |
4 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
441C>T |
Arg147Arg |
M0041229 |
KKGGLBHG_00020 |
15521 |
5 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
492T>C |
Ile164Ile |
M0041230 |
KKGGLBHG_00020 |
15826 |
6 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
797A>G |
His266Arg |
M0041231 |
KKGGLBHG_00020 |
15997 |
5 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
968A>G |
Gln323Arg |
M0041232 |
KKGGLBHG_00021 |
16126 |
4 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-155C>T |
None |
M0041233 |
KKGGLBHG_00021 |
16168 |
6 |
Skin |
0.29 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-113A>G |
None |
M0041234 |
KKGGLBHG_00021 |
16230 |
6 |
Skin |
0.29 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-51C>G |
None |
M0041235 |
KKGGLBHG_00021 |
16709 |
5 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
429G>C |
Ala143Ala |
M0041236 |
KKGGLBHG_00021 |
16814 |
5 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
534C>G |
Leu178Leu |
M0041237 |
KKGGLBHG_00022 |
17250 |
4 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
242G>A |
Gly81Glu |
M0041238 |
KKGGLBHG_00023 |
17616 |
6 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
249C>G |
Leu83Leu |
M0041239 |
KKGGLBHG_00023 |
17682 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
315G>C |
Leu105Leu |
M0041240 |
KKGGLBHG_00023 |
17952 |
4 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
585C>T |
Gly195Gly |
M0041241 |
KKGGLBHG_00023 |
18003 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
636C>T |
Ala212Ala |
M0041242 |
KKGGLBHG_00016 |
18163 |
3 |
Skin |
0.14 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4955T>G |
None |
M0041243 |
KKGGLBHG_00017 |
18230 |
5 |
Skin |
0.24 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4402G>T |
None |
M0041244 |
KKGGLBHG_00017 |
18240 |
3 |
Skin |
0.14 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4412G>A |
None |
M0041245 |
KKGGLBHG_00012 |
9587 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
429C>T |
Asp143Asp |
M0041246 |
KKGGLBHG_00011 |
9623 |
3 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-600G>A |
None |
M0041247 |
KKGGLBHG_00013 |
10383 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
591C>T |
Ala197Ala |
M0041248 |
KKGGLBHG_00015 |
12186 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
759T>C |
His253His |
M0041249 |
KKGGLBHG_00015 |
12315 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
888G>A |
Ala296Ala |
M0041250 |
KKGGLBHG_00015 |
12450 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1023G>T |
Ala341Ala |
M0041251 |
KKGGLBHG_00015 |
12453 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1026A>G |
Gln342Gln |
M0041252 |
KKGGLBHG_00015 |
12456 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1029C>T |
Pro343Pro |
M0041253 |
KKGGLBHG_00015 |
12465 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1038C>G |
Thr346Thr |
M0041254 |
KKGGLBHG_00015 |
12507 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1080C>G |
Ala360Ala |
M0041255 |
KKGGLBHG_00015 |
12516 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1089G>C |
Arg363Arg |
M0041256 |
KKGGLBHG_00015 |
12531 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1104T>C |
Leu368Leu |
M0041257 |
KKGGLBHG_00015 |
12539 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
1112C>T |
Ala371Val |
M0041258 |
KKGGLBHG_00015 |
12570 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1143T>G |
Arg381Arg |
M0041259 |
KKGGLBHG_00023 |
18081 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
714G>C |
Leu238Leu |
M0041260 |
KKGGLBHG_00020 |
15081 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
52G>A |
Gly18Ser |
M0041261 |
KKGGLBHG_00020 |
15125 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
96C>T |
Ile32Ile |
M0041262 |
KKGGLBHG_00020 |
15147 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
118G>A |
Val40Met |
M0041263 |
KKGGLBHG_00020 |
15565 |
4 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
536C>T |
Thr179Ile |
M0041264 |
KKGGLBHG_00020 |
15617 |
3 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
588G>A |
Lys196Lys |
M0041265 |
KKGGLBHG_00020 |
15652 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
623G>A |
Gly208Asp |
M0041266 |
KKGGLBHG_00020 |
15744 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
715G>A |
Val239Ile |
M0041267 |
KKGGLBHG_00017 |
18562 |
5 |
Skin |
0.24 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4734A>G |
None |
M0041268 |
KKGGLBHG_00018 |
14438 |
4 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
444C>T |
Gly148Gly |
M0041269 |
KKGGLBHG_00023 |
17899 |
4 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
532T>C |
Phe178Leu |
M0041270 |
KKGGLBHG_00023 |
17901 |
3 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
534C>G |
Phe178Leu |
M0041271 |
KKGGLBHG_00016 |
18150 |
3 |
Skin |
0.14 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4942G>A |
None |
Analysis of virulence factors contributing to bacterial pathogenicity
This table presents virulence factors identified within the plasmid cluster.
Note: Virulence factor analysis was performed using VFDB. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known virulence factors are listed.
Gene Name |
vf_gene_id |
vf_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
vf_category |
gene_description |
condition |
Analysis of biocide and heavy metal resistance genes to assess antimicrobial risk and environmental impact
This table presents biocides and heavy metals resistance genes identified within the plasmid cluster.
Note: Analyzing biocide and heavy metal resistance genes based on BacMet to evaluate bacterial resistance risk and the potential impact of environmental heavy metal contamination. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, E-value < 1e-5) to known biocide and heavy metal resistance genes are listed.
Gene Name |
compound |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
group |
Analyzing antimicrobial resistance genes to assess bacterial resistance to antibiotics and other antimicrobial agents
This table presents antimicrobial resistance genes identified within the plasmid cluster.
Note: Antimicrobial resistance was performed using CARD. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known antimicrobial resistance genes are listed.
Gene Name |
aro_accession |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
drug_class |
amr_gene_family |
resistance_mechanism |
Analysis of pathogenicity genes to explore pathogen-host interactions
This table presents host pathogen-host interactions within the plasmid cluster.
Note: Analyzing pathogenicity-related genes using PHI-base to understand pathogen virulence mechanisms and their impact on host interactions. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e-5) to known pathogenicity-related genes are listed.
Gene Name |
phi_molconn_id |
host gene_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
host_descripton |
disease_name |
function |
phenotype_of_mutant |
Analyzing carbohydrate-active enzyme genes to uncover mechanisms of nutrient degradation
This table presents carbohydrate-active enzyme genes identified within the plasmid cluster.
Note: Annotation of carbohydrate-active enzyme genes was performed using CAZy to explore mechanisms of nutrient breakdown and utilization. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known CAZyme genes are listed.
Gene Name |
cazy_id |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
Analyzing transport proteins to understand bacterial strategies for substrate uptake and detoxification
This table presents transport proteins within the plasmid cluster.
Note: Investigation of transport proteins based on TCDB to uncover bacterial mechanisms of substrate transport and environmental detoxification. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known transport protein entries are listed.
Gene Name |
tcid |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
class_field |
class_term |
subclass |
subclass_term |
family |
family_term |