Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C2242 |
Reference Plasmid |
1111525849755503_bin.7__k141_145949 |
Reference Plasmid Size |
35529 |
Reference Plasmid GC Content |
0.70 |
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 |
M0031031 |
PPIBLEHL_00015 |
9734 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
876T>C |
Ala292Ala |
M0031032 |
PPIBLEHL_00015 |
9876 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
734C>A |
Ala245Glu |
M0031033 |
PPIBLEHL_00015 |
9986 |
10 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
624A>C |
Thr208Thr |
M0031034 |
PPIBLEHL_00015 |
10082 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
528C>G |
Gly176Gly |
M0031035 |
PPIBLEHL_00015 |
10142 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
468C>T |
Ala156Ala |
M0031036 |
PPIBLEHL_00017 |
11097 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1041C>G |
Arg347Arg |
M0031037 |
PPIBLEHL_00017 |
11117 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
1021A>G |
Thr341Ala |
M0031038 |
PPIBLEHL_00017 |
11178 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
960G>C |
Ala320Ala |
M0031039 |
PPIBLEHL_00017 |
11179 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
959C>A |
Ala320Glu |
M0031040 |
PPIBLEHL_00017 |
11211 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
927G>C |
Arg309Arg |
M0031041 |
PPIBLEHL_00017 |
11223 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
915T>C |
Ala305Ala |
M0031042 |
PPIBLEHL_00017 |
11249 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
889A>G |
Ser297Gly |
M0031043 |
PPIBLEHL_00017 |
11569 |
10 |
Skin |
0.30 |
protein_coding |
missense_variant |
MODERATE |
569G>A |
Gly190Asp |
M0031044 |
PPIBLEHL_00018 |
12536 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
286A>G |
Thr96Ala |
M0031045 |
PPIBLEHL_00018 |
12537 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
287C>T |
Thr96Ile |
M0031046 |
PPIBLEHL_00018 |
12603 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
353A>G |
Asn118Ser |
M0031047 |
PPIBLEHL_00018 |
12612 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
362A>G |
Gln121Arg |
M0031048 |
PPIBLEHL_00018 |
12880 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
630C>G |
Leu210Leu |
M0031049 |
PPIBLEHL_00001 |
24 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-296A>G |
None |
M0031050 |
PPIBLEHL_00001 |
27 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-293G>A |
None |
M0031051 |
PPIBLEHL_00001 |
35 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-285G>C |
None |
M0031052 |
PPIBLEHL_00001 |
190 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-130T>G |
None |
M0031053 |
PPIBLEHL_00001 |
209 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-111A>C |
None |
M0031054 |
PPIBLEHL_00001 |
261 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-59T>C |
None |
M0031055 |
PPIBLEHL_00001 |
304 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-16C>T |
None |
M0031056 |
PPIBLEHL_00001 |
392 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
73C>A |
Pro25Thr |
M0031057 |
PPIBLEHL_00002 |
662 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
187A>G |
Asn63Asp |
M0031058 |
PPIBLEHL_00002 |
713 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
136C>A |
Arg46Ser |
M0031059 |
PPIBLEHL_00002 |
731 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
118G>C |
Gly40Arg |
M0031060 |
PPIBLEHL_00002 |
754 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
95C>G |
Thr32Ser |
M0031061 |
PPIBLEHL_00002 |
755 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
94A>G |
Thr32Ala |
M0031062 |
PPIBLEHL_00002 |
774 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
75A>C |
Leu25Phe |
M0031063 |
PPIBLEHL_00003 |
1111 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1036C>A |
Gln346Lys |
M0031064 |
PPIBLEHL_00003 |
1144 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1003C>G |
Gln335Glu |
M0031065 |
PPIBLEHL_00022 |
16870 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
256C>G |
Leu86Val |
M0031066 |
PPIBLEHL_00022 |
16963 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
349A>G |
Thr117Ala |
M0031067 |
PPIBLEHL_00022 |
16971 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
357G>C |
Thr119Thr |
M0031068 |
PPIBLEHL_00022 |
17025 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
411C>T |
His137His |
M0031069 |
PPIBLEHL_00022 |
17058 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
444G>C |
Arg148Arg |
M0031070 |
PPIBLEHL_00023 |
18222 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
439C>A |
Arg147Arg |
M0031071 |
PPIBLEHL_00023 |
18353 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
570T>C |
Asp190Asp |
M0031072 |
PPIBLEHL_00023 |
18356 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
573G>C |
Leu191Leu |
M0031073 |
PPIBLEHL_00023 |
18386 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
603G>C |
Pro201Pro |
M0031074 |
PPIBLEHL_00025 |
19418 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
477C>T |
His159His |
M0031075 |
PPIBLEHL_00025 |
19424 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
483C>T |
His161His |
M0031076 |
PPIBLEHL_00026 |
19859 |
9 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
193A>G |
Asn65Asp |
M0031077 |
PPIBLEHL_00026 |
20316 |
8 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
650G>T |
Arg217Met |
M0031078 |
PPIBLEHL_00003 |
1703 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
444C>G |
Val148Val |
M0031079 |
PPIBLEHL_00003 |
1706 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
441T>G |
Ser147Ser |
M0031080 |
PPIBLEHL_00003 |
1769 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
378C>T |
Asp126Asp |
M0031081 |
PPIBLEHL_00003 |
1796 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
351G>C |
Arg117Arg |
M0031082 |
PPIBLEHL_00005 |
3970 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
108T>A |
Asp36Glu |
M0031083 |
PPIBLEHL_00005 |
4006 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
144C>G |
Ala48Ala |
M0031084 |
PPIBLEHL_00005 |
4015 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
153G>A |
Thr51Thr |
M0031085 |
PPIBLEHL_00005 |
4060 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
198C>G |
Val66Val |
M0031086 |
PPIBLEHL_00005 |
4101 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
239A>G |
His80Arg |
M0031087 |
PPIBLEHL_00005 |
4469 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
607C>A |
Leu203Ile |
M0031088 |
PPIBLEHL_00005 |
4496 |
5 |
Skin |
0.15 |
protein_coding |
stop_gained |
HIGH |
634C>T |
Arg212* |
M0031089 |
PPIBLEHL_00005 |
4517 |
8 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
655G>C |
Val219Leu |
M0031090 |
PPIBLEHL_00006 |
4549 |
9 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
89A>G |
Asp30Gly |
M0031091 |
PPIBLEHL_00006 |
4670 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
210C>G |
Ala70Ala |
M0031092 |
PPIBLEHL_00007 |
4872 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
855G>T |
Pro285Pro |
M0031093 |
PPIBLEHL_00007 |
4902 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
825C>G |
Pro275Pro |
M0031094 |
PPIBLEHL_00007 |
4919 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
808T>C |
Leu270Leu |
M0031095 |
PPIBLEHL_00007 |
5067 |
5 |
Skin |
0.15 |
protein_coding |
stop_gained |
HIGH |
660G>A |
Trp220* |
M0031096 |
PPIBLEHL_00007 |
5076 |
10 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
651T>C |
Ala217Ala |
M0031097 |
PPIBLEHL_00007 |
5251 |
9 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
476C>T |
Pro159Leu |
M0031098 |
PPIBLEHL_00007 |
5312 |
8 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
415A>G |
Lys139Glu |
M0031099 |
PPIBLEHL_00007 |
5314 |
8 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
413A>T |
Asp138Val |
M0031100 |
PPIBLEHL_00007 |
5324 |
8 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
403T>C |
Cys135Arg |
M0031101 |
PPIBLEHL_00007 |
5334 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
393A>G |
Gly131Gly |
M0031102 |
PPIBLEHL_00007 |
5592 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
135C>T |
Phe45Phe |
M0031103 |
PPIBLEHL_00007 |
5623 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
104C>T |
Ala35Val |
M0031104 |
PPIBLEHL_00007 |
5697 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
30G>C |
Pro10Pro |
M0031105 |
PPIBLEHL_00007 |
5700 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
27A>G |
Lys9Lys |
M0031106 |
PPIBLEHL_00002 |
5763 |
10 |
Skin |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4915C>G |
None |
M0031107 |
PPIBLEHL_00008 |
5927 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
141G>C |
Ala47Ala |
M0031108 |
PPIBLEHL_00008 |
6044 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
258C>G |
Val86Val |
M0031109 |
PPIBLEHL_00008 |
6051 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
265C>G |
Leu89Val |
M0031110 |
PPIBLEHL_00008 |
6167 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
381T>C |
Asn127Asn |
M0031111 |
PPIBLEHL_00008 |
6280 |
8 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
494G>A |
Arg165His |
M0031112 |
PPIBLEHL_00009 |
6508 |
11 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
216A>C |
Gly72Gly |
M0031113 |
PPIBLEHL_00009 |
6615 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
323G>A |
Gly108Asp |
M0031114 |
PPIBLEHL_00009 |
6617 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
325G>T |
Gly109Cys |
M0031115 |
PPIBLEHL_00009 |
6940 |
11 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
648A>G |
Glu216Glu |
M0031116 |
PPIBLEHL_00009 |
7103 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
811T>C |
Leu271Leu |
M0031117 |
PPIBLEHL_00011 |
7666 |
12 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
261A>C |
Ile87Ile |
M0031118 |
PPIBLEHL_00011 |
7756 |
10 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
171G>C |
Gly57Gly |
M0031119 |
PPIBLEHL_00011 |
7799 |
13 |
Skin |
0.39 |
protein_coding |
missense_variant |
MODERATE |
128T>C |
Leu43Ser |
M0031120 |
PPIBLEHL_00011 |
7858 |
12 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
69G>C |
Pro23Pro |
M0031121 |
PPIBLEHL_00012 |
8063 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
708T>C |
Gly236Gly |
M0031122 |
PPIBLEHL_00012 |
8072 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
699A>G |
Glu233Glu |
M0031123 |
PPIBLEHL_00012 |
8075 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
696G>C |
Val232Val |
M0031124 |
PPIBLEHL_00012 |
8150 |
12 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
621T>C |
Ala207Ala |
M0031125 |
PPIBLEHL_00012 |
8234 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
537C>G |
Pro179Pro |
M0031126 |
PPIBLEHL_00012 |
8525 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
246G>C |
Val82Val |
M0031127 |
PPIBLEHL_00013 |
8857 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
168A>G |
Ala56Ala |
M0031128 |
PPIBLEHL_00013 |
8896 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
129A>G |
Arg43Arg |
M0031129 |
PPIBLEHL_00013 |
8938 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
87C>G |
Thr29Thr |
M0031130 |
PPIBLEHL_00014 |
9246 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
210G>T |
Ala70Ala |
M0031131 |
PPIBLEHL_00014 |
9247 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
209C>G |
Ala70Gly |
M0031132 |
PPIBLEHL_00014 |
9248 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
208G>C |
Ala70Pro |
M0031133 |
PPIBLEHL_00014 |
9249 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
207C>G |
Ala69Ala |
M0031134 |
PPIBLEHL_00014 |
9255 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
201G>A |
Glu67Glu |
M0031135 |
PPIBLEHL_00014 |
9261 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
195G>C |
Ala65Ala |
M0031136 |
PPIBLEHL_00014 |
9291 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
165G>C |
Ala55Ala |
M0031137 |
PPIBLEHL_00014 |
9296 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
160A>G |
Ile54Val |
M0031138 |
PPIBLEHL_00016 |
10648 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
282C>T |
Asp94Asp |
M0031139 |
PPIBLEHL_00016 |
10722 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
208A>G |
Asn70Asp |
M0031140 |
PPIBLEHL_00017 |
10969 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
1169C>T |
Thr390Met |
M0031141 |
PPIBLEHL_00017 |
11616 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
522G>C |
Pro174Pro |
M0031142 |
PPIBLEHL_00017 |
11620 |
9 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
518G>A |
Gly173Glu |
M0031143 |
PPIBLEHL_00011 |
12213 |
6 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4287G>A |
None |
M0031144 |
PPIBLEHL_00018 |
12787 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
537A>G |
Pro179Pro |
M0031145 |
PPIBLEHL_00018 |
12790 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
540G>A |
Gln180Gln |
M0031146 |
PPIBLEHL_00019 |
13333 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1711T>G |
Ser571Ala |
M0031147 |
PPIBLEHL_00019 |
13504 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1540A>C |
Thr514Pro |
M0031148 |
PPIBLEHL_00019 |
13766 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1278G>A |
Glu426Glu |
M0031149 |
PPIBLEHL_00008 |
5948 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
162C>T |
Ala54Ala |
M0031150 |
PPIBLEHL_00008 |
6246 |
7 |
Skin |
0.21 |
protein_coding |
stop_gained |
HIGH |
460C>T |
Gln154* |
M0031151 |
PPIBLEHL_00010 |
7403 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
11C>G |
Thr4Arg |
M0031152 |
PPIBLEHL_00011 |
7846 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
81T>C |
Asp27Asp |
M0031153 |
PPIBLEHL_00018 |
12346 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
96T>C |
Gly32Gly |
M0031154 |
PPIBLEHL_00003 |
1835 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
312T>C |
Asp104Asp |
M0031155 |
PPIBLEHL_00003 |
2131 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
16G>T |
Val6Phe |
M0031156 |
PPIBLEHL_00004 |
2255 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1421A>G |
Asn474Ser |
M0031157 |
PPIBLEHL_00004 |
2323 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1353T>G |
Ala451Ala |
M0031158 |
PPIBLEHL_00004 |
2515 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1161C>T |
Tyr387Tyr |
M0031159 |
PPIBLEHL_00004 |
2557 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1119A>G |
Ala373Ala |
M0031160 |
PPIBLEHL_00004 |
2637 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1039T>C |
Leu347Leu |
M0031161 |
PPIBLEHL_00004 |
3655 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
21T>C |
Ala7Ala |
M0031162 |
PPIBLEHL_00004 |
3665 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
11T>C |
Val4Ala |
M0031163 |
PPIBLEHL_00004 |
3667 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
9C>T |
Leu3Leu |
M0031164 |
PPIBLEHL_00002 |
3689 |
5 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2841A>G |
None |
M0031165 |
PPIBLEHL_00002 |
3827 |
6 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2979G>C |
None |
M0031166 |
PPIBLEHL_00005 |
3889 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
27T>C |
Gly9Gly |
M0031167 |
PPIBLEHL_00005 |
4201 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
339T>C |
Ala113Ala |
M0031168 |
PPIBLEHL_00005 |
4212 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
350G>A |
Cys117Tyr |
M0031169 |
PPIBLEHL_00005 |
4282 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
420G>C |
Pro140Pro |
M0031170 |
PPIBLEHL_00022 |
17664 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1050T>C |
His350His |
M0031171 |
PPIBLEHL_00022 |
17778 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1164A>C |
Pro388Pro |
M0031172 |
PPIBLEHL_00023 |
17867 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
84T>C |
Asn28Asn |
M0031173 |
PPIBLEHL_00023 |
17886 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
103A>C |
Arg35Arg |
M0031174 |
PPIBLEHL_00023 |
17908 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
125T>C |
Leu42Pro |
M0031175 |
PPIBLEHL_00023 |
17972 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
189C>A |
Asp63Glu |
M0031176 |
PPIBLEHL_00023 |
18486 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
703C>G |
Gln235Glu |
M0031177 |
PPIBLEHL_00023 |
18527 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
744C>T |
Tyr248Tyr |
M0031178 |
PPIBLEHL_00024 |
18663 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
99A>G |
Ala33Ala |
M0031179 |
PPIBLEHL_00024 |
18816 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
252C>T |
Arg84Arg |
M0031180 |
PPIBLEHL_00024 |
18858 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
294C>T |
His98His |
M0031181 |
PPIBLEHL_00024 |
18938 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
374C>A |
Thr125Lys |
M0031182 |
PPIBLEHL_00025 |
18980 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
39T>C |
Arg13Arg |
M0031183 |
PPIBLEHL_00025 |
19007 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
66T>C |
Asp22Asp |
M0031184 |
PPIBLEHL_00025 |
19139 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
198T>C |
Tyr66Tyr |
M0031185 |
PPIBLEHL_00025 |
19211 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
270T>G |
Pro90Pro |
M0031186 |
PPIBLEHL_00025 |
19218 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
277G>A |
Asp93Asn |
M0031187 |
PPIBLEHL_00025 |
19219 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
278A>G |
Asp93Gly |
M0031188 |
PPIBLEHL_00029 |
23346 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
810T>C |
Ala270Ala |
M0031189 |
PPIBLEHL_00031 |
24673 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
555C>T |
Ile185Ile |
M0031190 |
PPIBLEHL_00031 |
24688 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
570T>C |
Gly190Gly |
M0031191 |
PPIBLEHL_00031 |
24739 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
621G>C |
Pro207Pro |
M0031192 |
PPIBLEHL_00031 |
24891 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
773G>T |
Gly258Val |
M0031193 |
PPIBLEHL_00032 |
26101 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
645C>T |
Ile215Ile |
M0031194 |
PPIBLEHL_00005 |
4114 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
252G>T |
Pro84Pro |
M0031195 |
PPIBLEHL_00005 |
4185 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
323A>G |
Glu108Gly |
M0031196 |
PPIBLEHL_00005 |
4321 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
459C>T |
Gly153Gly |
M0031197 |
PPIBLEHL_00006 |
4480 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
20C>T |
Ala7Val |
M0031198 |
PPIBLEHL_00005 |
4481 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
619C>T |
Leu207Phe |
M0031199 |
PPIBLEHL_00007 |
4774 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
953G>A |
Gly318Glu |
M0031200 |
PPIBLEHL_00007 |
4938 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
789T>C |
His263His |
M0031201 |
PPIBLEHL_00007 |
5367 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
360T>C |
Ile120Ile |
M0031202 |
PPIBLEHL_00002 |
5783 |
5 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4935T>C |
None |
M0031203 |
PPIBLEHL_00008 |
6048 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
262C>A |
His88Asn |
M0031204 |
PPIBLEHL_00009 |
6388 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
96C>T |
Gly32Gly |
M0031205 |
PPIBLEHL_00009 |
6748 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
456C>G |
Leu152Leu |
M0031206 |
PPIBLEHL_00009 |
6781 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
489G>C |
Val163Val |
M0031207 |
PPIBLEHL_00009 |
6787 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
495C>T |
Tyr165Tyr |
M0031208 |
PPIBLEHL_00009 |
6790 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
498C>G |
Ala166Ala |
M0031209 |
PPIBLEHL_00009 |
6797 |
8 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
505T>G |
Ser169Ala |
M0031210 |
PPIBLEHL_00009 |
6803 |
8 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
511C>G |
Gln171Glu |
M0031211 |
PPIBLEHL_00009 |
6805 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
513G>A |
Gln171Gln |
M0031212 |
PPIBLEHL_00009 |
6895 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
603T>G |
Leu201Leu |
M0031213 |
PPIBLEHL_00017 |
11727 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
411C>T |
Ala137Ala |
M0031214 |
PPIBLEHL_00017 |
11793 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
345C>T |
Tyr115Tyr |
M0031215 |
PPIBLEHL_00017 |
11845 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
293A>G |
Lys98Arg |
M0031216 |
PPIBLEHL_00017 |
12031 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
107T>C |
Leu36Ser |
M0031217 |
PPIBLEHL_00011 |
12138 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4212A>G |
None |
M0031218 |
PPIBLEHL_00018 |
12307 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
57C>T |
Asp19Asp |
M0031219 |
PPIBLEHL_00018 |
12508 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
258T>A |
Arg86Arg |
M0031220 |
PPIBLEHL_00018 |
12511 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
261C>G |
Pro87Pro |
M0031221 |
PPIBLEHL_00018 |
12814 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
564G>T |
Leu188Leu |
M0031222 |
PPIBLEHL_00019 |
13526 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1518T>C |
Ile506Ile |
M0031223 |
PPIBLEHL_00019 |
13631 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1413T>C |
Ala471Ala |
M0031224 |
PPIBLEHL_00019 |
13724 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1320C>G |
Pro440Pro |
M0031225 |
PPIBLEHL_00019 |
13793 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1251T>C |
Thr417Thr |
M0031226 |
PPIBLEHL_00019 |
13815 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1229C>A |
Ala410Glu |
M0031227 |
PPIBLEHL_00019 |
14024 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1020T>C |
Asp340Asp |
M0031228 |
PPIBLEHL_00019 |
14027 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1017C>T |
Gly339Gly |
M0031229 |
PPIBLEHL_00019 |
14036 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1008C>T |
Phe336Phe |
M0031230 |
PPIBLEHL_00019 |
14056 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
988A>G |
Asn330Asp |
M0031231 |
PPIBLEHL_00019 |
14180 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
864C>A |
Leu288Leu |
M0031232 |
PPIBLEHL_00019 |
14219 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
825T>C |
Gly275Gly |
M0031233 |
PPIBLEHL_00019 |
14324 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
720A>G |
Arg240Arg |
M0031234 |
PPIBLEHL_00019 |
14415 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
629A>G |
Gln210Arg |
M0031235 |
PPIBLEHL_00019 |
14579 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
465A>C |
Pro155Pro |
M0031236 |
PPIBLEHL_00019 |
14582 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
462T>C |
Ser154Ser |
M0031237 |
PPIBLEHL_00019 |
14612 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
432T>C |
His144His |
M0031238 |
PPIBLEHL_00019 |
14707 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
337G>A |
Asp113Asn |
M0031239 |
PPIBLEHL_00019 |
14718 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
326G>A |
Gly109Asp |
M0031240 |
PPIBLEHL_00019 |
14954 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
90T>C |
Pro30Pro |
M0031241 |
PPIBLEHL_00020 |
15263 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
114A>T |
Pro38Pro |
M0031242 |
PPIBLEHL_00020 |
15286 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
137A>C |
Lys46Thr |
M0031243 |
PPIBLEHL_00020 |
15287 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
138A>G |
Lys46Lys |
M0031244 |
PPIBLEHL_00020 |
15566 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
417T>G |
Ala139Ala |
M0031245 |
PPIBLEHL_00020 |
15603 |
8 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
454T>G |
Ser152Ala |
M0031246 |
PPIBLEHL_00020 |
15609 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
460C>G |
Pro154Ala |
M0031247 |
PPIBLEHL_00020 |
15610 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
461C>T |
Pro154Leu |
M0031248 |
PPIBLEHL_00021 |
15651 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
873G>C |
Glu291Asp |
M0031249 |
PPIBLEHL_00021 |
15717 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
807A>G |
Arg269Arg |
M0031250 |
PPIBLEHL_00021 |
15729 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
795G>C |
Thr265Thr |
M0031251 |
PPIBLEHL_00021 |
15732 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
792G>T |
Glu264Asp |
M0031252 |
PPIBLEHL_00021 |
15831 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
693T>C |
Gly231Gly |
M0031253 |
PPIBLEHL_00021 |
15953 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
571G>A |
Asp191Asn |
M0031254 |
PPIBLEHL_00021 |
16126 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
398G>A |
Gly133Glu |
M0031255 |
PPIBLEHL_00021 |
16417 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
107C>T |
Thr36Ile |
M0031256 |
PPIBLEHL_00021 |
16439 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
85T>C |
Leu29Leu |
M0031257 |
PPIBLEHL_00021 |
16482 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
42G>T |
Val14Val |
M0031258 |
PPIBLEHL_00021 |
16485 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
39T>C |
Phe13Phe |
M0031259 |
PPIBLEHL_00021 |
16488 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
36A>C |
Ala12Ala |
M0031260 |
PPIBLEHL_00017 |
16556 |
5 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4419G>A |
None |
M0031261 |
PPIBLEHL_00022 |
16629 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
15T>C |
Ile5Ile |
M0031262 |
PPIBLEHL_00022 |
16911 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
297T>C |
Tyr99Tyr |
M0031263 |
PPIBLEHL_00022 |
16953 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
339G>A |
Glu113Glu |
M0031264 |
PPIBLEHL_00022 |
16967 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
353A>C |
Gln118Pro |
M0031265 |
PPIBLEHL_00022 |
17214 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
600C>T |
Tyr200Tyr |
M0031266 |
PPIBLEHL_00022 |
17244 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
630C>T |
Cys210Cys |
M0031267 |
PPIBLEHL_00022 |
17260 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
646C>A |
His216Asn |
M0031268 |
PPIBLEHL_00022 |
17325 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
711T>C |
Ala237Ala |
M0031269 |
PPIBLEHL_00022 |
17356 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
742G>T |
Ala248Ser |
M0031270 |
PPIBLEHL_00026 |
20063 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
397T>C |
Ser133Pro |
M0031271 |
PPIBLEHL_00027 |
20396 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
24C>G |
Ser8Ser |
M0031272 |
PPIBLEHL_00028 |
22279 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1056T>C |
Pro352Pro |
M0031273 |
PPIBLEHL_00030 |
23645 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
60A>G |
Leu20Leu |
M0031274 |
PPIBLEHL_00032 |
25654 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
198C>T |
Tyr66Tyr |
M0031275 |
PPIBLEHL_00032 |
25657 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
201C>G |
Arg67Arg |
M0031276 |
PPIBLEHL_00032 |
25666 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
210G>C |
Pro70Pro |
M0031277 |
PPIBLEHL_00032 |
25709 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
253G>A |
Val85Ile |
M0031278 |
PPIBLEHL_00033 |
26682 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
767A>G |
Asp256Gly |
M0031279 |
PPIBLEHL_00014 |
9080 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
376A>G |
Arg126Gly |
M0031280 |
PPIBLEHL_00014 |
9105 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
351A>G |
Pro117Pro |
M0031281 |
PPIBLEHL_00014 |
9119 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
337C>G |
Pro113Ala |
M0031282 |
PPIBLEHL_00014 |
9161 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
295G>T |
Ala99Ser |
M0031283 |
PPIBLEHL_00014 |
9184 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
272C>A |
Thr91Lys |
M0031284 |
PPIBLEHL_00014 |
9185 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
271A>G |
Thr91Ala |
M0031285 |
PPIBLEHL_00020 |
15459 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
310A>G |
Thr104Ala |
M0031286 |
PPIBLEHL_00020 |
15473 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
324G>A |
Arg108Arg |
M0031287 |
PPIBLEHL_00021 |
15918 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
606C>G |
Ala202Ala |
M0031288 |
PPIBLEHL_00021 |
15924 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
600G>C |
Val200Val |
M0031289 |
PPIBLEHL_00021 |
15960 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
564G>T |
Arg188Arg |
M0031290 |
PPIBLEHL_00021 |
15962 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
562C>G |
Arg188Gly |
M0031291 |
PPIBLEHL_00021 |
15963 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
561G>C |
Arg187Arg |
M0031292 |
PPIBLEHL_00021 |
15975 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
549T>C |
Asp183Asp |
M0031293 |
PPIBLEHL_00021 |
15978 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
546G>C |
Met182Ile |
M0031294 |
PPIBLEHL_00021 |
15979 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
545T>C |
Met182Thr |
M0031295 |
PPIBLEHL_00021 |
15980 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
544A>G |
Met182Val |
M0031296 |
PPIBLEHL_00021 |
16298 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
226T>C |
Leu76Leu |
M0031297 |
PPIBLEHL_00014 |
9403 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
53A>C |
His18Pro |
M0031298 |
PPIBLEHL_00015 |
10223 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
387G>A |
Ala129Ala |
M0031299 |
PPIBLEHL_00015 |
10414 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
196C>T |
Leu66Phe |
M0031300 |
PPIBLEHL_00008 |
6139 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
353T>A |
Met118Lys |
M0031301 |
PPIBLEHL_00009 |
6445 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
153G>A |
Ser51Ser |
M0031302 |
PPIBLEHL_00010 |
7472 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
80G>A |
Arg27Lys |
M0031303 |
PPIBLEHL_00012 |
7950 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
821A>G |
Tyr274Cys |
M0031304 |
PPIBLEHL_00012 |
8381 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
390C>G |
Pro130Pro |
M0031305 |
PPIBLEHL_00012 |
8575 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
196C>G |
His66Asp |
M0031306 |
PPIBLEHL_00012 |
8582 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
189C>T |
Phe63Phe |
M0031307 |
PPIBLEHL_00012 |
8591 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
180G>C |
Gly60Gly |
M0031308 |
PPIBLEHL_00012 |
8614 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
157T>G |
Leu53Val |
M0031309 |
PPIBLEHL_00012 |
8628 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
143G>A |
Arg48Lys |
M0031310 |
PPIBLEHL_00012 |
8636 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
135G>C |
Arg45Arg |
M0031311 |
PPIBLEHL_00012 |
8648 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
123A>G |
Gln41Gln |
M0031312 |
PPIBLEHL_00029 |
22878 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
342G>C |
Gly114Gly |
M0031313 |
PPIBLEHL_00029 |
22883 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
347T>C |
Leu116Ser |
M0031314 |
PPIBLEHL_00029 |
22980 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
444T>A |
Ala148Ala |
M0031315 |
PPIBLEHL_00005 |
4444 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
582G>C |
Ala194Ala |
M0031316 |
PPIBLEHL_00007 |
4848 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
879G>C |
Arg293Arg |
M0031317 |
PPIBLEHL_00007 |
5541 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
186G>C |
Ser62Ser |
M0031318 |
PPIBLEHL_00007 |
9029 |
5 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3303A>T |
None |
M0031319 |
PPIBLEHL_00015 |
10034 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
576T>C |
Arg192Arg |
M0031320 |
PPIBLEHL_00017 |
11385 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
753T>C |
Asp251Asp |
M0031321 |
PPIBLEHL_00017 |
11457 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
681G>C |
Ala227Ala |
M0031322 |
PPIBLEHL_00019 |
15017 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
27A>C |
Arg9Arg |
M0031323 |
PPIBLEHL_00015 |
15056 |
5 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4447C>G |
None |
M0031324 |
PPIBLEHL_00015 |
15069 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4460C>A |
None |
M0031325 |
PPIBLEHL_00015 |
15082 |
5 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4473T>C |
None |
M0031326 |
PPIBLEHL_00015 |
15087 |
5 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4478T>C |
None |
M0031327 |
PPIBLEHL_00015 |
15101 |
5 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4492T>C |
None |
M0031328 |
PPIBLEHL_00015 |
15128 |
5 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4519T>C |
None |
M0031329 |
PPIBLEHL_00020 |
15179 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
30G>C |
Pro10Pro |
M0031330 |
PPIBLEHL_00025 |
19262 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
321C>T |
Tyr107Tyr |
M0031331 |
PPIBLEHL_00027 |
20762 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
390A>G |
Pro130Pro |
M0031332 |
PPIBLEHL_00027 |
20831 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
459T>C |
Asp153Asp |
M0031333 |
PPIBLEHL_00027 |
20868 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
496A>G |
Asn166Asp |
M0031334 |
PPIBLEHL_00027 |
20903 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
531T>C |
Phe177Phe |
M0031335 |
PPIBLEHL_00027 |
20945 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
573A>G |
Val191Val |
M0031336 |
PPIBLEHL_00027 |
20987 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
615C>G |
Asp205Glu |
M0031337 |
PPIBLEHL_00028 |
21304 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
81T>C |
Leu27Leu |
M0031338 |
PPIBLEHL_00028 |
21712 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
489C>G |
Thr163Thr |
M0031339 |
PPIBLEHL_00029 |
23196 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
660C>A |
Asp220Glu |
M0031340 |
PPIBLEHL_00015 |
15131 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4522T>G |
None |
M0031341 |
PPIBLEHL_00009 |
6580 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
288C>G |
Arg96Arg |
M0031342 |
PPIBLEHL_00009 |
6593 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
301A>G |
Ile101Val |
M0031343 |
PPIBLEHL_00009 |
7270 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
978T>C |
Ile326Ile |
M0031344 |
PPIBLEHL_00011 |
7674 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
253G>A |
Val85Ile |
M0031345 |
PPIBLEHL_00009 |
7230 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
938G>C |
Gly313Ala |
M0031346 |
PPIBLEHL_00009 |
7259 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
967T>C |
Leu323Leu |
M0031347 |
PPIBLEHL_00011 |
7607 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
320T>C |
Val107Ala |
M0031348 |
PPIBLEHL_00012 |
7979 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
792C>G |
His264Gln |
M0031349 |
PPIBLEHL_00012 |
8090 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
681C>T |
Ser227Ser |
M0031350 |
PPIBLEHL_00012 |
8119 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
652C>G |
Pro218Ala |
M0031351 |
PPIBLEHL_00012 |
8165 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
606G>A |
Gly202Gly |
M0031352 |
PPIBLEHL_00012 |
8264 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
507G>C |
Val169Val |
M0031353 |
PPIBLEHL_00017 |
11748 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
390G>A |
Glu130Glu |
M0031354 |
PPIBLEHL_00015 |
15099 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4490G>C |
None |
M0031355 |
PPIBLEHL_00015 |
15111 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4502A>G |
None |
M0031356 |
PPIBLEHL_00002 |
3822 |
5 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2974C>T |
None |
M0031357 |
PPIBLEHL_00004 |
3592 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
84C>T |
Leu28Leu |
M0031358 |
PPIBLEHL_00005 |
4438 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
576T>C |
Arg192Arg |
M0031359 |
PPIBLEHL_00005 |
4441 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
579G>T |
Arg193Arg |
M0031360 |
PPIBLEHL_00007 |
4762 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
965C>A |
Thr322Lys |
M0031361 |
PPIBLEHL_00009 |
7003 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
711C>A |
Gly237Gly |
M0031362 |
PPIBLEHL_00013 |
8990 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
35T>A |
Phe12Tyr |
M0031363 |
PPIBLEHL_00022 |
17370 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
756G>C |
Glu252Asp |
M0031364 |
PPIBLEHL_00026 |
19692 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
26T>C |
Val9Ala |
M0031365 |
PPIBLEHL_00026 |
19824 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
158G>A |
Arg53Lys |
M0031366 |
PPIBLEHL_00026 |
19915 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
249G>C |
Ala83Ala |
M0031367 |
PPIBLEHL_00026 |
19961 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
295A>G |
Lys99Glu |
M0031368 |
PPIBLEHL_00004 |
2380 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1296T>C |
Thr432Thr |
M0031369 |
PPIBLEHL_00006 |
4653 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
193G>C |
Glu65Gln |
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 |