Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C3086 |
Reference Plasmid |
MET0084_bin.3__k81_4760 |
Reference Plasmid Size |
60165 |
Reference Plasmid GC Content |
0.32 |
Reference Plasmid Mobility Type |
non-mobilizable |
Mutation sites in the plasmid cluster
The table lists mutations identified in the plasmid cluster.
Note: Mutations identified in this plasmid cluster are listed below. Click on a mutation ID to view full details..
mutid |
gname |
pos |
count |
tissue |
frequnt |
biotype |
consequence |
impact |
nucchange |
aachange |
M0073720 |
CCGFHDJC_00023 |
21938 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1428C>T |
Ile476Ile |
M0073721 |
CCGFHDJC_00023 |
22012 |
7 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1502T>C |
Ile501Thr |
M0073722 |
CCGFHDJC_00020 |
22033 |
13 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2978T>C |
None |
M0073723 |
CCGFHDJC_00020 |
22093 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3038C>A |
None |
M0073724 |
CCGFHDJC_00020 |
22102 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3047A>G |
None |
M0073725 |
CCGFHDJC_00020 |
22103 |
4 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3048G>A |
None |
M0073726 |
CCGFHDJC_00020 |
22115 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3060G>A |
None |
M0073727 |
CCGFHDJC_00020 |
22205 |
9 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3150C>T |
None |
M0073728 |
CCGFHDJC_00024 |
22755 |
9 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
340A>G |
Arg114Gly |
M0073729 |
CCGFHDJC_00024 |
23423 |
12 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1008T>C |
Gly336Gly |
M0073730 |
CCGFHDJC_00024 |
23525 |
10 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1110T>A |
His370Gln |
M0073731 |
CCGFHDJC_00024 |
24665 |
9 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
2250G>T |
Thr750Thr |
M0073732 |
CCGFHDJC_00021 |
24695 |
8 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4646T>C |
None |
M0073733 |
CCGFHDJC_00021 |
24861 |
9 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4812C>A |
None |
M0073734 |
CCGFHDJC_00021 |
24890 |
9 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4841A>C |
None |
M0073735 |
CCGFHDJC_00025 |
24981 |
8 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
213T>C |
His71His |
M0073736 |
CCGFHDJC_00025 |
25222 |
8 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-29T>C |
None |
M0073737 |
CCGFHDJC_00025 |
25225 |
9 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-32G>T |
None |
M0073738 |
CCGFHDJC_00025 |
25230 |
8 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-37G>T |
None |
M0073739 |
CCGFHDJC_00025 |
25266 |
8 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-73T>A |
None |
M0073740 |
CCGFHDJC_00025 |
25294 |
8 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-101G>A |
None |
M0073741 |
CCGFHDJC_00025 |
25302 |
9 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-109G>T |
None |
M0073742 |
CCGFHDJC_00025 |
25303 |
8 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-110A>G |
None |
M0073743 |
CCGFHDJC_00025 |
25304 |
8 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-111C>A |
None |
M0073744 |
CCGFHDJC_00025 |
25309 |
8 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-116T>G |
None |
M0073745 |
CCGFHDJC_00025 |
25310 |
9 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-117A>C |
None |
M0073746 |
CCGFHDJC_00026 |
25329 |
8 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
525T>C |
Asn175Asn |
M0073747 |
CCGFHDJC_00026 |
25332 |
8 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
522C>T |
Ser174Ser |
M0073748 |
CCGFHDJC_00026 |
25354 |
9 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
500T>C |
Val167Ala |
M0073749 |
CCGFHDJC_00026 |
25380 |
9 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
474C>T |
Gly158Gly |
M0073750 |
CCGFHDJC_00026 |
25437 |
9 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
417T>C |
Thr139Thr |
M0073751 |
CCGFHDJC_00026 |
25457 |
9 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
397G>A |
Asp133Asn |
M0073752 |
CCGFHDJC_00026 |
25490 |
9 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
364T>C |
Leu122Leu |
M0073753 |
CCGFHDJC_00026 |
25496 |
9 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
358A>G |
Lys120Glu |
M0073754 |
CCGFHDJC_00026 |
25497 |
9 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
357C>A |
Gly119Gly |
M0073755 |
CCGFHDJC_00026 |
25512 |
9 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
342G>C |
Val114Val |
M0073756 |
CCGFHDJC_00026 |
25518 |
9 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
336G>A |
Glu112Glu |
M0073757 |
CCGFHDJC_00026 |
25537 |
9 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
317C>A |
Ala106Glu |
M0073758 |
CCGFHDJC_00026 |
25599 |
9 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
255A>T |
Gln85His |
M0073759 |
CCGFHDJC_00026 |
25608 |
8 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
246G>T |
Ala82Ala |
M0073760 |
CCGFHDJC_00026 |
25682 |
9 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
172G>A |
Ala58Thr |
M0073761 |
CCGFHDJC_00026 |
25694 |
9 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
160T>C |
Leu54Leu |
M0073762 |
CCGFHDJC_00026 |
25695 |
9 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
159C>G |
Gly53Gly |
M0073763 |
CCGFHDJC_00026 |
25731 |
9 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
123G>A |
Glu41Glu |
M0073764 |
CCGFHDJC_00026 |
25737 |
9 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
117A>T |
Lys39Asn |
M0073765 |
CCGFHDJC_00026 |
25802 |
9 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
52G>A |
Glu18Lys |
M0073766 |
CCGFHDJC_00025 |
25866 |
7 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-673T>G |
None |
M0073767 |
CCGFHDJC_00025 |
25901 |
6 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-708C>T |
None |
M0073768 |
CCGFHDJC_00025 |
25906 |
6 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-713A>G |
None |
M0073769 |
CCGFHDJC_00025 |
25910 |
6 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-717G>A |
None |
M0073770 |
CCGFHDJC_00025 |
25911 |
6 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-718A>G |
None |
M0073771 |
CCGFHDJC_00025 |
25913 |
6 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-720C>T |
None |
M0073772 |
CCGFHDJC_00025 |
25933 |
6 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-740G>A |
None |
M0073773 |
CCGFHDJC_00025 |
26009 |
6 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-816A>G |
None |
M0073774 |
CCGFHDJC_00025 |
26068 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-875T>C |
None |
M0073775 |
CCGFHDJC_00025 |
26088 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-895T>G |
None |
M0073776 |
CCGFHDJC_00025 |
26096 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-903G>A |
None |
M0073777 |
CCGFHDJC_00025 |
26097 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-904T>G |
None |
M0073778 |
CCGFHDJC_00027 |
26110 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1998C>T |
Phe666Phe |
M0073779 |
CCGFHDJC_00027 |
27613 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
495A>G |
Ala165Ala |
M0073780 |
CCGFHDJC_00027 |
27676 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
432A>G |
Val144Val |
M0073781 |
CCGFHDJC_00028 |
28838 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
99A>C |
Arg33Ser |
M0073782 |
CCGFHDJC_00030 |
31598 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
408C>T |
Tyr136Tyr |
M0073783 |
CCGFHDJC_00030 |
31823 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
183A>T |
Ile61Ile |
M0073784 |
CCGFHDJC_00027 |
32045 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3938C>T |
None |
M0073785 |
CCGFHDJC_00027 |
32061 |
4 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3954T>C |
None |
M0073786 |
CCGFHDJC_00031 |
32401 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
729C>T |
Cys243Cys |
M0073787 |
CCGFHDJC_00031 |
32406 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
724A>C |
Lys242Gln |
M0073788 |
CCGFHDJC_00031 |
32471 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
659T>C |
Ile220Thr |
M0073789 |
CCGFHDJC_00032 |
33945 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1302T>C |
Asp434Asp |
M0073790 |
CCGFHDJC_00032 |
34047 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1200A>G |
Thr400Thr |
M0073791 |
CCGFHDJC_00032 |
34134 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1113C>G |
His371Gln |
M0073792 |
CCGFHDJC_00032 |
34140 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1107T>C |
Ile369Ile |
M0073793 |
CCGFHDJC_00032 |
34596 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
651T>G |
Ile217Met |
M0073794 |
CCGFHDJC_00033 |
36107 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
666A>C |
Ile222Ile |
M0073795 |
CCGFHDJC_00045 |
47595 |
7 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
204G>A |
Pro68Pro |
M0073796 |
CCGFHDJC_00045 |
47617 |
13 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
226A>G |
Ser76Gly |
M0073797 |
CCGFHDJC_00041 |
47903 |
9 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3020A>G |
None |
M0073798 |
CCGFHDJC_00041 |
47904 |
14 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3021A>G |
None |
M0073799 |
CCGFHDJC_00046 |
48067 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1178G>A |
Arg393His |
M0073800 |
CCGFHDJC_00046 |
48089 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1156C>T |
His386Tyr |
M0073801 |
CCGFHDJC_00046 |
48117 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1128G>A |
Val376Val |
M0073802 |
CCGFHDJC_00046 |
48119 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1126G>C |
Val376Leu |
M0073803 |
CCGFHDJC_00046 |
48137 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1108G>A |
Glu370Lys |
M0073804 |
CCGFHDJC_00046 |
48144 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1101A>C |
Ile367Ile |
M0073805 |
CCGFHDJC_00046 |
48342 |
13 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
903A>G |
Glu301Glu |
M0073806 |
CCGFHDJC_00046 |
48567 |
14 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
678C>A |
Gly226Gly |
M0073807 |
CCGFHDJC_00046 |
48884 |
16 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
361G>A |
Val121Ile |
M0073808 |
CCGFHDJC_00046 |
48906 |
16 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
339A>G |
Ser113Ser |
M0073809 |
CCGFHDJC_00046 |
48912 |
10 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
333G>A |
Thr111Thr |
M0073810 |
CCGFHDJC_00046 |
48918 |
16 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
327A>G |
Ala109Ala |
M0073811 |
CCGFHDJC_00046 |
48942 |
16 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
303T>C |
Gly101Gly |
M0073812 |
CCGFHDJC_00047 |
49883 |
12 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1014C>T |
Phe338Phe |
M0073813 |
CCGFHDJC_00047 |
49898 |
12 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
999T>C |
Pro333Pro |
M0073814 |
CCGFHDJC_00047 |
49976 |
9 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
921G>A |
Gly307Gly |
M0073815 |
CCGFHDJC_00047 |
50159 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
738G>A |
Arg246Arg |
M0073816 |
CCGFHDJC_00047 |
50168 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
729T>G |
Asp243Glu |
M0073817 |
CCGFHDJC_00047 |
50453 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
444C>T |
Pro148Pro |
M0073818 |
CCGFHDJC_00047 |
50477 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
420G>A |
Leu140Leu |
M0073819 |
CCGFHDJC_00047 |
50498 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
399C>T |
Ile133Ile |
M0073820 |
CCGFHDJC_00047 |
50555 |
12 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
342C>T |
Asn114Asn |
M0073821 |
CCGFHDJC_00047 |
50563 |
8 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
334C>T |
Leu112Leu |
M0073822 |
CCGFHDJC_00047 |
50576 |
8 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
321C>T |
Ile107Ile |
M0073823 |
CCGFHDJC_00047 |
50846 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
51T>G |
Ile17Met |
M0073824 |
CCGFHDJC_00048 |
50990 |
8 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
93T>C |
Tyr31Tyr |
M0073825 |
CCGFHDJC_00048 |
51031 |
10 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
52G>C |
Asp18His |
M0073826 |
CCGFHDJC_00049 |
51390 |
12 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
77G>A |
Arg26Lys |
M0073827 |
CCGFHDJC_00049 |
51706 |
12 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
393A>C |
Gly131Gly |
M0073828 |
CCGFHDJC_00049 |
52072 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
759G>A |
Lys253Lys |
M0073829 |
CCGFHDJC_00049 |
52154 |
10 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
841A>G |
Ser281Gly |
M0073830 |
CCGFHDJC_00049 |
52511 |
8 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
1198A>G |
Asn400Asp |
M0073831 |
CCGFHDJC_00049 |
52563 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1250G>A |
Gly417Glu |
M0073832 |
CCGFHDJC_00049 |
52601 |
10 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1288A>G |
Asn430Asp |
M0073833 |
CCGFHDJC_00049 |
52615 |
8 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1302C>T |
Ala434Ala |
M0073834 |
CCGFHDJC_00046 |
52746 |
9 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3502A>C |
None |
M0073835 |
CCGFHDJC_00050 |
53217 |
9 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
194T>C |
Leu65Pro |
M0073836 |
CCGFHDJC_00051 |
53462 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
396A>G |
Leu132Leu |
M0073837 |
CCGFHDJC_00046 |
54024 |
8 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4780A>T |
None |
M0073838 |
CCGFHDJC_00046 |
54039 |
8 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4795A>G |
None |
M0073839 |
CCGFHDJC_00052 |
54355 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
462T>C |
Asn154Asn |
M0073840 |
CCGFHDJC_00052 |
54424 |
7 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
393C>T |
Thr131Thr |
M0073841 |
CCGFHDJC_00052 |
54457 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
360T>C |
Gly120Gly |
M0073842 |
CCGFHDJC_00052 |
54785 |
6 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
32T>C |
Ile11Thr |
M0073843 |
CCGFHDJC_00052 |
54792 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
25G>T |
Ala9Ser |
M0073844 |
CCGFHDJC_00047 |
54854 |
4 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3958A>C |
None |
M0073845 |
CCGFHDJC_00053 |
55513 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
471A>G |
Leu157Leu |
M0073846 |
CCGFHDJC_00053 |
55522 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
480C>G |
Gly160Gly |
M0073847 |
CCGFHDJC_00053 |
55579 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
537A>G |
Val179Val |
M0073848 |
CCGFHDJC_00053 |
55597 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
555C>T |
Gly185Gly |
M0073849 |
CCGFHDJC_00053 |
55600 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
558C>T |
Gly186Gly |
M0073850 |
CCGFHDJC_00053 |
55720 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
678T>A |
Thr226Thr |
M0073851 |
CCGFHDJC_00046 |
48945 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
300A>C |
Thr100Thr |
M0073852 |
CCGFHDJC_00046 |
48987 |
7 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
258T>C |
Leu86Leu |
M0073853 |
CCGFHDJC_00046 |
49017 |
7 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
228G>T |
Arg76Arg |
M0073854 |
CCGFHDJC_00046 |
49203 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
42T>C |
Gly14Gly |
M0073855 |
CCGFHDJC_00041 |
49530 |
5 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4647T>C |
None |
M0073856 |
CCGFHDJC_00047 |
49601 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1296G>A |
Leu432Leu |
M0073857 |
CCGFHDJC_00047 |
49610 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1287C>G |
Ala429Ala |
M0073858 |
CCGFHDJC_00047 |
49727 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1170C>T |
Asp390Asp |
M0073859 |
CCGFHDJC_00047 |
49733 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1164C>A |
Ala388Ala |
M0073860 |
CCGFHDJC_00047 |
49754 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1143T>A |
Pro381Pro |
M0073861 |
CCGFHDJC_00047 |
49760 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1137C>T |
Thr379Thr |
M0073862 |
CCGFHDJC_00047 |
50132 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
765G>A |
Leu255Leu |
M0073863 |
CCGFHDJC_00047 |
50330 |
6 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
567G>A |
Met189Ile |
M0073864 |
CCGFHDJC_00047 |
50585 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
312T>C |
Ile104Ile |
M0073865 |
CCGFHDJC_00047 |
50588 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
309C>A |
Pro103Pro |
M0073866 |
CCGFHDJC_00047 |
50609 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
288G>A |
Pro96Pro |
M0073867 |
CCGFHDJC_00048 |
51019 |
8 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
64T>C |
Ser22Pro |
M0073868 |
CCGFHDJC_00048 |
51032 |
9 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
51G>A |
Gly17Gly |
M0073869 |
CCGFHDJC_00048 |
51065 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
18A>G |
Leu6Leu |
M0073870 |
CCGFHDJC_00051 |
53786 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
72A>G |
Thr24Thr |
M0073871 |
CCGFHDJC_00051 |
53814 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
44C>T |
Ala15Val |
M0073872 |
CCGFHDJC_00046 |
53858 |
4 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4614T>G |
None |
M0073873 |
CCGFHDJC_00046 |
53957 |
6 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4713C>T |
None |
M0073874 |
CCGFHDJC_00047 |
54938 |
6 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4042G>A |
None |
M0073875 |
CCGFHDJC_00047 |
54940 |
6 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4044G>A |
None |
M0073876 |
CCGFHDJC_00053 |
55255 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
213G>A |
Glu71Glu |
M0073877 |
CCGFHDJC_00053 |
55654 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
612A>G |
Val204Val |
M0073878 |
CCGFHDJC_00053 |
55942 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
900T>G |
Thr300Thr |
M0073879 |
CCGFHDJC_00053 |
55966 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
924T>C |
Ser308Ser |
M0073880 |
CCGFHDJC_00053 |
56020 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
978T>A |
Asp326Glu |
M0073881 |
CCGFHDJC_00051 |
56995 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3138A>G |
None |
M0073882 |
CCGFHDJC_00044 |
47069 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
135G>T |
Gln45His |
M0073883 |
CCGFHDJC_00044 |
47105 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
99A>C |
Val33Val |
M0073884 |
CCGFHDJC_00044 |
47113 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
91C>T |
Leu31Leu |
M0073885 |
CCGFHDJC_00044 |
47161 |
6 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
43G>A |
Val15Met |
M0073886 |
CCGFHDJC_00044 |
47183 |
6 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
21A>T |
Lys7Asn |
M0073887 |
CCGFHDJC_00044 |
47192 |
6 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
12T>A |
Asp4Glu |
M0073888 |
CCGFHDJC_00044 |
47201 |
5 |
Skin |
0.08 |
protein_coding |
start_lost |
HIGH |
3G>T |
Met1? |
M0073889 |
CCGFHDJC_00038 |
47301 |
5 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4915A>G |
None |
M0073890 |
CCGFHDJC_00038 |
47336 |
5 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4950C>T |
None |
M0073891 |
CCGFHDJC_00045 |
47433 |
10 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
42T>C |
Gly14Gly |
M0073892 |
CCGFHDJC_00045 |
47615 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
224A>G |
His75Arg |
M0073893 |
CCGFHDJC_00045 |
47625 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
234C>T |
Gly78Gly |
M0073894 |
CCGFHDJC_00045 |
47631 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
240T>C |
Ile80Ile |
M0073895 |
CCGFHDJC_00045 |
47653 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
262A>C |
Ile88Leu |
M0073896 |
CCGFHDJC_00045 |
47707 |
6 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
316C>A |
Gln106Lys |
M0073897 |
CCGFHDJC_00041 |
47748 |
6 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2865A>G |
None |
M0073898 |
CCGFHDJC_00041 |
47789 |
8 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2906T>C |
None |
M0073899 |
CCGFHDJC_00041 |
47822 |
6 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2939A>G |
None |
M0073900 |
CCGFHDJC_00041 |
47844 |
5 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2961C>T |
None |
M0073901 |
CCGFHDJC_00041 |
47902 |
5 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3019T>C |
None |
M0073902 |
CCGFHDJC_00046 |
48216 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1029T>C |
Ser343Ser |
M0073903 |
CCGFHDJC_00046 |
48255 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
990G>T |
Arg330Arg |
M0073904 |
CCGFHDJC_00046 |
48269 |
6 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
976T>C |
Ser326Pro |
M0073905 |
CCGFHDJC_00046 |
48369 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
876G>T |
Gly292Gly |
M0073906 |
CCGFHDJC_00046 |
48463 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
782A>G |
Asn261Ser |
M0073907 |
CCGFHDJC_00046 |
48486 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
759A>G |
Pro253Pro |
M0073908 |
CCGFHDJC_00046 |
48495 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
750G>A |
Thr250Thr |
M0073909 |
CCGFHDJC_00046 |
48497 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
748A>G |
Thr250Ala |
M0073910 |
CCGFHDJC_00046 |
48519 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
726A>G |
Glu242Glu |
M0073911 |
CCGFHDJC_00046 |
48660 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
585G>A |
Lys195Lys |
M0073912 |
CCGFHDJC_00046 |
48750 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
495G>A |
Ser165Ser |
M0073913 |
CCGFHDJC_00046 |
48804 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
441A>T |
Ser147Ser |
M0073914 |
CCGFHDJC_00046 |
49079 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
166C>A |
Leu56Met |
M0073915 |
CCGFHDJC_00046 |
49116 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
129T>C |
Val43Val |
M0073916 |
CCGFHDJC_00046 |
49134 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
111G>A |
Val37Val |
M0073917 |
CCGFHDJC_00046 |
49140 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
105T>C |
Val35Val |
M0073918 |
CCGFHDJC_00046 |
49155 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
90C>T |
Gly30Gly |
M0073919 |
CCGFHDJC_00046 |
49179 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
66T>C |
Asn22Asn |
M0073920 |
CCGFHDJC_00044 |
46890 |
7 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
314A>G |
Asp105Gly |
M0073921 |
CCGFHDJC_00044 |
46916 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
288C>A |
Thr96Thr |
M0073922 |
CCGFHDJC_00044 |
46918 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
286A>G |
Thr96Ala |
M0073923 |
CCGFHDJC_00044 |
46923 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
281C>G |
Thr94Ser |
M0073924 |
CCGFHDJC_00044 |
46931 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
273C>A |
Val91Val |
M0073925 |
CCGFHDJC_00041 |
47976 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3093C>T |
None |
M0073926 |
CCGFHDJC_00018 |
16541 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
285A>G |
Leu95Leu |
M0073927 |
CCGFHDJC_00018 |
16563 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
307T>C |
Tyr103His |
M0073928 |
CCGFHDJC_00018 |
16595 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
339G>A |
Gly113Gly |
M0073929 |
CCGFHDJC_00018 |
16618 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
362T>C |
Ile121Thr |
M0073930 |
CCGFHDJC_00018 |
16633 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
377A>C |
Tyr126Ser |
M0073931 |
CCGFHDJC_00018 |
16657 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
401G>A |
Arg134His |
M0073932 |
CCGFHDJC_00018 |
16688 |
11 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
432G>A |
Glu144Glu |
M0073933 |
CCGFHDJC_00018 |
16689 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
433C>T |
His145Tyr |
M0073934 |
CCGFHDJC_00018 |
16769 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
513T>C |
Asn171Asn |
M0073935 |
CCGFHDJC_00018 |
16775 |
10 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
519G>T |
Met173Ile |
M0073936 |
CCGFHDJC_00018 |
16856 |
11 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
600G>T |
Gly200Gly |
M0073937 |
CCGFHDJC_00018 |
16871 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
615G>A |
Met205Ile |
M0073938 |
CCGFHDJC_00018 |
16893 |
9 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
637A>G |
Asn213Asp |
M0073939 |
CCGFHDJC_00018 |
16906 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
650C>A |
Ala217Glu |
M0073940 |
CCGFHDJC_00018 |
17018 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
762T>C |
Tyr254Tyr |
M0073941 |
CCGFHDJC_00018 |
17039 |
9 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
783T>C |
His261His |
M0073942 |
CCGFHDJC_00018 |
17069 |
9 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
813C>T |
Tyr271Tyr |
M0073943 |
CCGFHDJC_00019 |
17289 |
8 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
60C>T |
Val20Val |
M0073944 |
CCGFHDJC_00019 |
17310 |
12 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
81G>C |
Arg27Arg |
M0073945 |
CCGFHDJC_00020 |
18758 |
7 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
298G>A |
Asp100Asn |
M0073946 |
CCGFHDJC_00020 |
18923 |
14 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
133C>T |
Pro45Ser |
M0073947 |
CCGFHDJC_00021 |
19756 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
294A>G |
Gln98Gln |
M0073948 |
CCGFHDJC_00021 |
19768 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
282T>A |
Ser94Ser |
M0073949 |
CCGFHDJC_00015 |
14306 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
201G>T |
Gly67Gly |
M0073950 |
CCGFHDJC_00016 |
15046 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
318T>C |
Val106Val |
M0073951 |
CCGFHDJC_00016 |
15110 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
254T>C |
Val85Ala |
M0073952 |
CCGFHDJC_00016 |
15314 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
50A>G |
His17Arg |
M0073953 |
CCGFHDJC_00016 |
15325 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
39G>A |
Ala13Ala |
M0073954 |
CCGFHDJC_00016 |
15327 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
37G>A |
Ala13Thr |
M0073955 |
CCGFHDJC_00017 |
15464 |
7 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
711T>C |
Gly237Gly |
M0073956 |
CCGFHDJC_00017 |
15506 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
669C>T |
Arg223Arg |
M0073957 |
CCGFHDJC_00017 |
15515 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
660T>C |
Gly220Gly |
M0073958 |
CCGFHDJC_00017 |
15566 |
8 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
609A>C |
Gly203Gly |
M0073959 |
CCGFHDJC_00017 |
15650 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
525T>G |
Ala175Ala |
M0073960 |
CCGFHDJC_00017 |
16055 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
120G>A |
Leu40Leu |
M0073961 |
CCGFHDJC_00018 |
16403 |
7 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
147C>T |
Asp49Asp |
M0073962 |
CCGFHDJC_00018 |
16416 |
6 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
160G>A |
Ala54Thr |
M0073963 |
CCGFHDJC_00018 |
16419 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
163G>A |
Asp55Asn |
M0073964 |
CCGFHDJC_00018 |
16422 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
166C>T |
Pro56Ser |
M0073965 |
CCGFHDJC_00018 |
16970 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
714T>G |
Val238Val |
M0073966 |
CCGFHDJC_00017 |
20447 |
11 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4273G>A |
None |
M0073967 |
CCGFHDJC_00017 |
20455 |
12 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4281A>G |
None |
M0073968 |
CCGFHDJC_00023 |
20649 |
10 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
139A>G |
Ser47Gly |
M0073969 |
CCGFHDJC_00023 |
21093 |
14 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
583A>G |
Lys195Glu |
M0073970 |
CCGFHDJC_00023 |
21327 |
11 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
817T>C |
Phe273Leu |
M0073971 |
CCGFHDJC_00023 |
21509 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
999G>A |
Val333Val |
M0073972 |
CCGFHDJC_00024 |
22818 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
403G>A |
Ala135Thr |
M0073973 |
CCGFHDJC_00019 |
18009 |
10 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
780C>T |
Ala260Ala |
M0073974 |
CCGFHDJC_00021 |
19222 |
16 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
828A>G |
Ser276Ser |
M0073975 |
CCGFHDJC_00021 |
19336 |
9 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
714A>G |
Ser238Ser |
M0073976 |
CCGFHDJC_00021 |
19723 |
11 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
327T>A |
Ala109Ala |
M0073977 |
CCGFHDJC_00021 |
19798 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
252T>C |
Asn84Asn |
M0073978 |
CCGFHDJC_00021 |
19840 |
10 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
210G>A |
Ser70Ser |
M0073979 |
CCGFHDJC_00021 |
19861 |
10 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
189T>C |
Ile63Ile |
M0073980 |
CCGFHDJC_00021 |
19873 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
177C>A |
Ser59Arg |
M0073981 |
CCGFHDJC_00021 |
19903 |
10 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
147C>G |
Ala49Ala |
M0073982 |
CCGFHDJC_00016 |
20266 |
4 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4903T>A |
None |
M0073983 |
CCGFHDJC_00046 |
54076 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4832C>T |
None |
M0073984 |
CCGFHDJC_00046 |
54102 |
4 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4858C>A |
None |
M0073985 |
CCGFHDJC_00052 |
54280 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
537T>A |
Gly179Gly |
M0073986 |
CCGFHDJC_00052 |
54316 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
501C>T |
Thr167Thr |
M0073987 |
CCGFHDJC_00052 |
54325 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
492T>G |
Ile164Met |
M0073988 |
CCGFHDJC_00052 |
54394 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
423G>A |
Pro141Pro |
M0073989 |
CCGFHDJC_00052 |
54442 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
375C>T |
Phe125Phe |
M0073990 |
CCGFHDJC_00052 |
54510 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
307G>A |
Val103Ile |
M0073991 |
CCGFHDJC_00052 |
54526 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
291C>T |
His97His |
M0073992 |
CCGFHDJC_00052 |
54528 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
289C>T |
His97Tyr |
M0073993 |
CCGFHDJC_00052 |
54544 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
273G>A |
Leu91Leu |
M0073994 |
CCGFHDJC_00052 |
54592 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
225T>C |
Asp75Asp |
M0073995 |
CCGFHDJC_00052 |
54610 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
207G>A |
Val69Val |
M0073996 |
CCGFHDJC_00052 |
54613 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
204C>T |
Asp68Asp |
M0073997 |
CCGFHDJC_00052 |
54641 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
176A>C |
Asp59Ala |
M0073998 |
CCGFHDJC_00052 |
54644 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
173A>C |
Asp58Ala |
M0073999 |
CCGFHDJC_00047 |
54825 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3929A>G |
None |
M0074000 |
CCGFHDJC_00047 |
54857 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3961G>A |
None |
M0074001 |
CCGFHDJC_00047 |
54880 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3984T>C |
None |
M0074002 |
CCGFHDJC_00047 |
54908 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4012C>T |
None |
M0074003 |
CCGFHDJC_00047 |
54948 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4052T>C |
None |
M0074004 |
CCGFHDJC_00047 |
54951 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4055C>T |
None |
M0074005 |
CCGFHDJC_00047 |
54971 |
4 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4075T>C |
None |
M0074006 |
CCGFHDJC_00047 |
54972 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4076C>T |
None |
M0074007 |
CCGFHDJC_00047 |
54996 |
4 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4100G>T |
None |
M0074008 |
CCGFHDJC_00053 |
55106 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
64C>A |
Gln22Lys |
M0074009 |
CCGFHDJC_00053 |
55300 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
258T>C |
Gly86Gly |
M0074010 |
CCGFHDJC_00053 |
55615 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
573A>C |
Ala191Ala |
M0074011 |
CCGFHDJC_00053 |
55849 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
807T>C |
Gly269Gly |
M0074012 |
CCGFHDJC_00053 |
55870 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
828C>A |
Ser276Ser |
M0074013 |
CCGFHDJC_00021 |
19381 |
9 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
669C>A |
Thr223Thr |
M0074014 |
CCGFHDJC_00021 |
19396 |
9 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
654T>C |
Phe218Phe |
M0074015 |
CCGFHDJC_00021 |
19426 |
9 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
624C>G |
Ala208Ala |
M0074016 |
CCGFHDJC_00021 |
19696 |
9 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
354G>T |
Val118Val |
M0074017 |
CCGFHDJC_00021 |
19699 |
9 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
351C>T |
His117His |
M0074018 |
CCGFHDJC_00021 |
19708 |
8 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
342A>C |
Thr114Thr |
M0074019 |
CCGFHDJC_00021 |
19759 |
7 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
291A>G |
Lys97Lys |
M0074020 |
CCGFHDJC_00021 |
19816 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
234T>C |
Gly78Gly |
M0074021 |
CCGFHDJC_00021 |
19915 |
11 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
135C>A |
Gly45Gly |
M0074022 |
CCGFHDJC_00021 |
19927 |
9 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
123T>G |
Gly41Gly |
M0074023 |
CCGFHDJC_00021 |
19978 |
9 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
72C>T |
Ser24Ser |
M0074024 |
CCGFHDJC_00021 |
19987 |
8 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
63C>A |
Leu21Leu |
M0074025 |
CCGFHDJC_00021 |
20007 |
8 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
43A>G |
Ile15Val |
M0074026 |
CCGFHDJC_00021 |
20046 |
8 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
4T>C |
Leu2Leu |
M0074027 |
CCGFHDJC_00016 |
20078 |
7 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4715C>T |
None |
M0074028 |
CCGFHDJC_00016 |
20088 |
7 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4725A>C |
None |
M0074029 |
CCGFHDJC_00016 |
20186 |
12 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4823A>C |
None |
M0074030 |
CCGFHDJC_00016 |
20199 |
11 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4836C>A |
None |
M0074031 |
CCGFHDJC_00016 |
20210 |
9 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4847C>T |
None |
M0074032 |
CCGFHDJC_00016 |
20265 |
9 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4902G>A |
None |
M0074033 |
CCGFHDJC_00017 |
20404 |
9 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4230A>G |
None |
M0074034 |
CCGFHDJC_00017 |
20449 |
9 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4275C>T |
None |
M0074035 |
CCGFHDJC_00023 |
20801 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
291C>T |
Ile97Ile |
M0074036 |
CCGFHDJC_00023 |
20813 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
303T>C |
Ser101Ser |
M0074037 |
CCGFHDJC_00023 |
20820 |
7 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
310C>T |
Leu104Leu |
M0074038 |
CCGFHDJC_00023 |
20846 |
7 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
336T>G |
Gly112Gly |
M0074039 |
CCGFHDJC_00023 |
20906 |
9 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
396C>T |
Asn132Asn |
M0074040 |
CCGFHDJC_00023 |
20914 |
9 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
404G>A |
Arg135Lys |
M0074041 |
CCGFHDJC_00020 |
22054 |
5 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2999C>T |
None |
M0074042 |
CCGFHDJC_00027 |
26670 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1438A>C |
Thr480Pro |
M0074043 |
CCGFHDJC_00030 |
31236 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
770C>A |
Ala257Glu |
M0074044 |
CCGFHDJC_00047 |
50732 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
165C>A |
Leu55Leu |
M0074045 |
CCGFHDJC_00043 |
50971 |
5 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4322C>T |
None |
M0074046 |
CCGFHDJC_00038 |
46692 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4306A>G |
None |
M0074047 |
CCGFHDJC_00045 |
47406 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
15C>T |
Asn5Asn |
M0074048 |
CCGFHDJC_00045 |
47417 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
26A>G |
Asn9Ser |
M0074049 |
CCGFHDJC_00047 |
50516 |
7 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
381T>G |
Ala127Ala |
M0074050 |
CCGFHDJC_00046 |
54111 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4867C>T |
None |
M0074051 |
CCGFHDJC_00012 |
11422 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
180C>A |
Ser60Ser |
M0074052 |
CCGFHDJC_00012 |
11520 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
82C>A |
His28Asn |
M0074053 |
CCGFHDJC_00007 |
11627 |
4 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4680G>A |
None |
M0074054 |
CCGFHDJC_00007 |
11634 |
4 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4687A>G |
None |
M0074055 |
CCGFHDJC_00013 |
11827 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
22T>C |
Leu8Leu |
M0074056 |
CCGFHDJC_00013 |
12063 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
258T>C |
Ala86Ala |
M0074057 |
CCGFHDJC_00013 |
12198 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
393G>A |
Lys131Lys |
M0074058 |
CCGFHDJC_00042 |
45420 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
537G>C |
Gly179Gly |
M0074059 |
CCGFHDJC_00042 |
45686 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
271A>G |
Ile91Val |
M0074060 |
CCGFHDJC_00037 |
46077 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4698G>A |
None |
M0074061 |
CCGFHDJC_00037 |
46079 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4700C>G |
None |
M0074062 |
CCGFHDJC_00037 |
46103 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4724A>G |
None |
M0074063 |
CCGFHDJC_00043 |
46146 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
504A>C |
Glu168Asp |
M0074064 |
CCGFHDJC_00043 |
46542 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
108A>G |
Thr36Thr |
M0074065 |
CCGFHDJC_00043 |
46545 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
105C>A |
Leu35Leu |
M0074066 |
CCGFHDJC_00044 |
46915 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
289T>A |
Cys97Ser |
M0074067 |
CCGFHDJC_00044 |
46940 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
264C>T |
Thr88Thr |
M0074068 |
CCGFHDJC_00044 |
46945 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
259C>T |
Leu87Leu |
M0074069 |
CCGFHDJC_00044 |
46947 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
257C>T |
Thr86Met |
M0074070 |
CCGFHDJC_00044 |
46952 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
252A>G |
Ile84Met |
M0074071 |
CCGFHDJC_00044 |
46996 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
208T>A |
Leu70Met |
M0074072 |
CCGFHDJC_00047 |
49678 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1219T>C |
Leu407Leu |
M0074073 |
CCGFHDJC_00047 |
50474 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
423T>G |
Thr141Thr |
M0074074 |
CCGFHDJC_00047 |
50723 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
174C>T |
Asp58Asp |
M0074075 |
CCGFHDJC_00047 |
50866 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
31A>G |
Asn11Asp |
M0074076 |
CCGFHDJC_00043 |
50970 |
4 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4321A>G |
None |
M0074077 |
CCGFHDJC_00037 |
45968 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4589A>G |
None |
M0074078 |
CCGFHDJC_00047 |
49853 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1044A>G |
Gly348Gly |
M0074079 |
CCGFHDJC_00048 |
51018 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
65C>T |
Ser22Phe |
M0074080 |
CCGFHDJC_00046 |
52774 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3530C>T |
None |
M0074081 |
CCGFHDJC_00018 |
16394 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
138G>T |
Met46Ile |
M0074082 |
CCGFHDJC_00020 |
22163 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3108C>T |
None |
M0074083 |
CCGFHDJC_00020 |
22182 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3127A>G |
None |
M0074084 |
CCGFHDJC_00016 |
15127 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
237C>T |
Asp79Asp |
M0074085 |
CCGFHDJC_00016 |
15207 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
157A>G |
Ile53Val |
M0074086 |
CCGFHDJC_00017 |
15425 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
750G>A |
Ala250Ala |
M0074087 |
CCGFHDJC_00017 |
15524 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
651G>A |
Leu217Leu |
M0074088 |
CCGFHDJC_00017 |
15572 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
603A>G |
Gly201Gly |
M0074089 |
CCGFHDJC_00017 |
15662 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
513G>A |
Ala171Ala |
M0074090 |
CCGFHDJC_00017 |
15686 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
489C>T |
Arg163Arg |
M0074091 |
CCGFHDJC_00017 |
15791 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
384T>G |
Ile128Met |
M0074092 |
CCGFHDJC_00012 |
16210 |
6 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4609G>A |
None |
M0074093 |
CCGFHDJC_00018 |
16295 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
39A>G |
Thr13Thr |
M0074094 |
CCGFHDJC_00018 |
16334 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
78T>C |
Ile26Ile |
M0074095 |
CCGFHDJC_00018 |
16454 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
198G>A |
Thr66Thr |
M0074096 |
CCGFHDJC_00018 |
16511 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
255T>G |
Thr85Thr |
M0074097 |
CCGFHDJC_00018 |
16517 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
261C>T |
Ile87Ile |
M0074098 |
CCGFHDJC_00018 |
16670 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
414A>G |
Gln138Gln |
M0074099 |
CCGFHDJC_00018 |
16678 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
422G>A |
Arg141His |
M0074100 |
CCGFHDJC_00018 |
16691 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
435T>C |
His145His |
M0074101 |
CCGFHDJC_00018 |
16764 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
508A>G |
Ile170Val |
M0074102 |
CCGFHDJC_00018 |
16781 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
525A>T |
Ala175Ala |
M0074103 |
CCGFHDJC_00018 |
16793 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
537T>C |
Asn179Asn |
M0074104 |
CCGFHDJC_00018 |
16815 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
559T>C |
Ser187Pro |
M0074105 |
CCGFHDJC_00018 |
16817 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
561G>A |
Ser187Ser |
M0074106 |
CCGFHDJC_00018 |
16838 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
582G>A |
Thr194Thr |
M0074107 |
CCGFHDJC_00018 |
16889 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
633G>A |
Leu211Leu |
M0074108 |
CCGFHDJC_00018 |
16892 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
636T>C |
Pro212Pro |
M0074109 |
CCGFHDJC_00018 |
16973 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
717G>A |
Met239Ile |
M0074110 |
CCGFHDJC_00018 |
17048 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
792C>G |
Thr264Thr |
M0074111 |
CCGFHDJC_00019 |
17259 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
30G>T |
Met10Ile |
M0074112 |
CCGFHDJC_00019 |
17409 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
180C>T |
Ile60Ile |
M0074113 |
CCGFHDJC_00019 |
17430 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
201C>T |
Gly67Gly |
M0074114 |
CCGFHDJC_00019 |
17445 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
216A>C |
Thr72Thr |
M0074115 |
CCGFHDJC_00019 |
17652 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
423T>C |
Asp141Asp |
M0074116 |
CCGFHDJC_00019 |
17664 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
435C>A |
Ala145Ala |
M0074117 |
CCGFHDJC_00019 |
17712 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
483A>G |
Ile161Met |
M0074118 |
CCGFHDJC_00019 |
17790 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
561T>C |
Thr187Thr |
M0074119 |
CCGFHDJC_00019 |
17809 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
580T>C |
Ser194Pro |
M0074120 |
CCGFHDJC_00019 |
17810 |
5 |
Skin |
0.08 |
protein_coding |
stop_gained |
HIGH |
581C>A |
Ser194* |
M0074121 |
CCGFHDJC_00019 |
17934 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
705C>A |
Ser235Ser |
M0074122 |
CCGFHDJC_00019 |
17973 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
744G>A |
Thr248Thr |
M0074123 |
CCGFHDJC_00019 |
17976 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
747A>G |
Arg249Arg |
M0074124 |
CCGFHDJC_00019 |
17991 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
762T>C |
Tyr254Tyr |
M0074125 |
CCGFHDJC_00019 |
18013 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
784C>T |
Leu262Leu |
M0074126 |
CCGFHDJC_00019 |
18033 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
804A>G |
Pro268Pro |
M0074127 |
CCGFHDJC_00020 |
18168 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
888A>G |
Val296Val |
M0074128 |
CCGFHDJC_00020 |
18173 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
883G>A |
Val295Ile |
M0074129 |
CCGFHDJC_00020 |
18282 |
4 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
774T>G |
Asp258Glu |
M0074130 |
CCGFHDJC_00020 |
18285 |
4 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
771T>A |
Thr257Thr |
M0074131 |
CCGFHDJC_00020 |
18744 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
312T>C |
Thr104Thr |
M0074132 |
CCGFHDJC_00020 |
18745 |
6 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
311C>A |
Thr104Asn |
M0074133 |
CCGFHDJC_00020 |
18756 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
300C>T |
Asp100Asp |
M0074134 |
CCGFHDJC_00020 |
18783 |
7 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
273G>A |
Leu91Leu |
M0074135 |
CCGFHDJC_00020 |
18818 |
6 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
238A>G |
Ile80Val |
M0074136 |
CCGFHDJC_00020 |
18837 |
7 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
219G>A |
Glu73Glu |
M0074137 |
CCGFHDJC_00020 |
18840 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
216A>T |
Arg72Arg |
M0074138 |
CCGFHDJC_00020 |
18841 |
6 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
215G>A |
Arg72Gln |
M0074139 |
CCGFHDJC_00020 |
18850 |
6 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
206G>A |
Ser69Asn |
M0074140 |
CCGFHDJC_00020 |
18891 |
6 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
165A>C |
Lys55Asn |
M0074141 |
CCGFHDJC_00020 |
18896 |
6 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
160C>G |
His54Asp |
M0074142 |
CCGFHDJC_00020 |
18942 |
7 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
114T>G |
Thr38Thr |
M0074143 |
CCGFHDJC_00020 |
19026 |
8 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
30A>T |
Ala10Ala |
M0074144 |
CCGFHDJC_00015 |
19058 |
5 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4552T>C |
None |
M0074145 |
CCGFHDJC_00015 |
19091 |
8 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4585G>A |
None |
M0074146 |
CCGFHDJC_00015 |
19096 |
8 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4590C>A |
None |
M0074147 |
CCGFHDJC_00015 |
19113 |
8 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4607A>T |
None |
M0074148 |
CCGFHDJC_00015 |
19174 |
8 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4668G>A |
None |
M0074149 |
CCGFHDJC_00021 |
19348 |
7 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
702C>T |
Gly234Gly |
M0074150 |
CCGFHDJC_00021 |
19773 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
277G>A |
Ala93Thr |
M0074151 |
CCGFHDJC_00017 |
20420 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4246C>T |
None |
M0074152 |
CCGFHDJC_00023 |
21266 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
756T>C |
Val252Val |
M0074153 |
CCGFHDJC_00023 |
21275 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
765C>T |
His255His |
M0074154 |
CCGFHDJC_00023 |
21440 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
930T>C |
His310His |
M0074155 |
CCGFHDJC_00023 |
21482 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
972T>G |
Phe324Leu |
M0074156 |
CCGFHDJC_00023 |
21545 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1035A>G |
Ala345Ala |
M0074157 |
CCGFHDJC_00023 |
21587 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1077T>C |
Ile359Ile |
M0074158 |
CCGFHDJC_00023 |
21608 |
6 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1098T>C |
Tyr366Tyr |
M0074159 |
CCGFHDJC_00025 |
29058 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3865C>A |
None |
M0074160 |
CCGFHDJC_00030 |
31475 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
531A>G |
Gly177Gly |
M0074161 |
CCGFHDJC_00030 |
31483 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
523A>G |
Asn175Asp |
M0074162 |
CCGFHDJC_00030 |
31517 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
489A>G |
Glu163Glu |
M0074163 |
CCGFHDJC_00030 |
31541 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
465T>C |
Ile155Ile |
M0074164 |
CCGFHDJC_00030 |
31565 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
441T>A |
Arg147Arg |
M0074165 |
CCGFHDJC_00031 |
32247 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
883T>C |
Leu295Leu |
M0074166 |
CCGFHDJC_00046 |
48132 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1113C>T |
Leu371Leu |
M0074167 |
CCGFHDJC_00019 |
17548 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
319A>C |
Asn107His |
M0074168 |
CCGFHDJC_00015 |
19114 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4608G>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 |
CCGFHDJC_00024 |
PHI:3418 |
ssp |
75.3 |
3.8e-299 |
1 |
747 |
0.9894 |
0.9868 |
nematodes |
urinary tract infection |
lipase activity |
reduced virulence |
CCGFHDJC_00033 |
PHI:6629 |
brnQ1 |
72.7 |
1.5e-181 |
11 |
457 |
0.9675 |
0.9911 |
rodents |
skin infection; food poisoning; respiratory disease |
BCAA transporter |
unaffected pathogenicity |
CCGFHDJC_00050 |
PHI:7637 |
CspA |
76.2 |
7e-24 |
1 |
63 |
0.9545 |
0.9545 |
bony fishes |
listeriosis |
cold shock protein |
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 |
CCGFHDJC_00049 |
QKH82470.1|GT2 |
99.8 |
0 |
1 |
468 |
1 |
1 |
Analyzing transport proteins to understand bacterial strategies for substrate uptake and detoxification
This table presents transport proteins within the plasmid cluster.
Note: Investigation of transport proteins based on TCDB to uncover bacterial mechanisms of substrate transport and environmental detoxification. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known transport protein entries are listed.
Gene Name |
tcid |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
class_field |
class_term |
subclass |
subclass_term |
family |
family_term |