Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C351 |
Reference Plasmid |
NZ_AP015030.1 |
Reference Plasmid Size |
483376 |
Reference Plasmid GC Content |
0.57 |
Reference Plasmid Mobility Type |
conjugative |
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 |
M0086067 |
LGGJHHMI_00060 |
57782 |
33 |
Skin |
0.38 |
protein_coding |
synonymous_variant |
LOW |
123G>T |
Pro41Pro |
M0086068 |
LGGJHHMI_00060 |
57868 |
36 |
Skin |
0.41 |
protein_coding |
missense_variant |
MODERATE |
37G>A |
Ala13Thr |
M0086069 |
LGGJHHMI_00059 |
58020 |
34 |
Skin |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3652G>A |
None |
M0086070 |
LGGJHHMI_00059 |
58022 |
34 |
Skin |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3654A>C |
None |
M0086071 |
LGGJHHMI_00059 |
58042 |
35 |
Skin |
0.40 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3674A>C |
None |
M0086072 |
LGGJHHMI_00059 |
58045 |
36 |
Skin |
0.41 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3677A>G |
None |
M0086073 |
LGGJHHMI_00059 |
58048 |
36 |
Skin |
0.41 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3680T>C |
None |
M0086074 |
LGGJHHMI_00059 |
58086 |
35 |
Skin |
0.40 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3718A>G |
None |
M0086075 |
LGGJHHMI_00059 |
58087 |
35 |
Skin |
0.40 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3719C>G |
None |
M0086076 |
LGGJHHMI_00059 |
58090 |
35 |
Skin |
0.40 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3722C>T |
None |
M0086077 |
LGGJHHMI_00059 |
58091 |
35 |
Skin |
0.40 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3723G>T |
None |
M0086078 |
LGGJHHMI_00061 |
58148 |
36 |
Skin |
0.41 |
protein_coding |
missense_variant |
MODERATE |
880A>G |
Thr294Ala |
M0086079 |
LGGJHHMI_00061 |
58230 |
33 |
Skin |
0.38 |
protein_coding |
synonymous_variant |
LOW |
798G>A |
Gln266Gln |
M0086080 |
LGGJHHMI_00061 |
58236 |
33 |
Skin |
0.38 |
protein_coding |
synonymous_variant |
LOW |
792G>A |
Gln264Gln |
M0086081 |
LGGJHHMI_00061 |
58320 |
34 |
Skin |
0.39 |
protein_coding |
synonymous_variant |
LOW |
708C>T |
Arg236Arg |
M0086082 |
LGGJHHMI_00061 |
58374 |
33 |
Skin |
0.38 |
protein_coding |
synonymous_variant |
LOW |
654C>T |
Thr218Thr |
M0086083 |
LGGJHHMI_00061 |
58512 |
34 |
Skin |
0.39 |
protein_coding |
synonymous_variant |
LOW |
516G>A |
Glu172Glu |
M0086084 |
LGGJHHMI_00061 |
58515 |
34 |
Skin |
0.39 |
protein_coding |
synonymous_variant |
LOW |
513T>C |
Phe171Phe |
M0086085 |
LGGJHHMI_00061 |
58516 |
34 |
Skin |
0.39 |
protein_coding |
missense_variant |
MODERATE |
512T>A |
Phe171Tyr |
M0086086 |
LGGJHHMI_00061 |
58581 |
31 |
Skin |
0.35 |
protein_coding |
synonymous_variant |
LOW |
447C>T |
Ala149Ala |
M0086087 |
LGGJHHMI_00061 |
58720 |
34 |
Skin |
0.39 |
protein_coding |
missense_variant |
MODERATE |
308G>A |
Ser103Asn |
M0086088 |
LGGJHHMI_00061 |
58721 |
30 |
Skin |
0.34 |
protein_coding |
missense_variant |
MODERATE |
307A>C |
Ser103Arg |
M0086089 |
LGGJHHMI_00061 |
58752 |
34 |
Skin |
0.39 |
protein_coding |
synonymous_variant |
LOW |
276A>G |
Gly92Gly |
M0086090 |
LGGJHHMI_00061 |
58797 |
32 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
231G>A |
Ala77Ala |
M0086091 |
LGGJHHMI_00061 |
58802 |
31 |
Skin |
0.35 |
protein_coding |
missense_variant |
MODERATE |
226G>C |
Val76Leu |
M0086092 |
LGGJHHMI_00061 |
58824 |
31 |
Skin |
0.35 |
protein_coding |
synonymous_variant |
LOW |
204G>A |
Glu68Glu |
M0086093 |
LGGJHHMI_00061 |
58851 |
33 |
Skin |
0.38 |
protein_coding |
missense_variant |
MODERATE |
177A>C |
Glu59Asp |
M0086094 |
LGGJHHMI_00061 |
58881 |
30 |
Skin |
0.34 |
protein_coding |
synonymous_variant |
LOW |
147G>C |
Val49Val |
M0086095 |
LGGJHHMI_00061 |
58902 |
31 |
Skin |
0.35 |
protein_coding |
synonymous_variant |
LOW |
126T>C |
Arg42Arg |
M0086096 |
LGGJHHMI_00061 |
58916 |
30 |
Skin |
0.34 |
protein_coding |
synonymous_variant |
LOW |
112C>A |
Arg38Arg |
M0086097 |
LGGJHHMI_00062 |
59105 |
30 |
Skin |
0.34 |
protein_coding |
missense_variant |
MODERATE |
764A>G |
Gln255Arg |
M0086098 |
LGGJHHMI_00062 |
59184 |
30 |
Skin |
0.34 |
protein_coding |
missense_variant |
MODERATE |
685G>A |
Ala229Thr |
M0086099 |
LGGJHHMI_00062 |
59191 |
30 |
Skin |
0.34 |
protein_coding |
synonymous_variant |
LOW |
678T>C |
Ser226Ser |
M0086100 |
LGGJHHMI_00062 |
59239 |
31 |
Skin |
0.35 |
protein_coding |
synonymous_variant |
LOW |
630C>T |
Phe210Phe |
M0086101 |
LGGJHHMI_00062 |
59301 |
27 |
Skin |
0.31 |
protein_coding |
missense_variant |
MODERATE |
568G>A |
Val190Ile |
M0086102 |
LGGJHHMI_00062 |
59313 |
29 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
556C>T |
Pro186Ser |
M0086103 |
LGGJHHMI_00062 |
59317 |
29 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
552A>T |
Ala184Ala |
M0086104 |
LGGJHHMI_00062 |
59321 |
27 |
Skin |
0.31 |
protein_coding |
missense_variant |
MODERATE |
548T>C |
Val183Ala |
M0086105 |
LGGJHHMI_00062 |
59375 |
26 |
Skin |
0.30 |
protein_coding |
missense_variant |
MODERATE |
494C>T |
Thr165Met |
M0086106 |
LGGJHHMI_00062 |
59376 |
28 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
493A>G |
Thr165Ala |
M0086107 |
LGGJHHMI_00062 |
59420 |
27 |
Skin |
0.31 |
protein_coding |
missense_variant |
MODERATE |
449C>T |
Pro150Leu |
M0086108 |
LGGJHHMI_00062 |
59443 |
26 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
426G>A |
Pro142Pro |
M0086109 |
LGGJHHMI_00062 |
59509 |
24 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
360T>C |
Gly120Gly |
M0086110 |
LGGJHHMI_00062 |
59557 |
24 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
312T>C |
Arg104Arg |
M0086111 |
LGGJHHMI_00062 |
59596 |
22 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
273G>A |
Glu91Glu |
M0086112 |
LGGJHHMI_00062 |
59644 |
20 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
225G>A |
Gly75Gly |
M0086113 |
LGGJHHMI_00062 |
59677 |
18 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
192G>T |
Ser64Ser |
M0086114 |
LGGJHHMI_00060 |
59952 |
22 |
Skin |
0.25 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2048C>T |
None |
M0086115 |
LGGJHHMI_00060 |
59956 |
21 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2052T>G |
None |
M0086116 |
LGGJHHMI_00060 |
59958 |
21 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2054C>T |
None |
M0086117 |
LGGJHHMI_00060 |
59971 |
21 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2067C>T |
None |
M0086118 |
LGGJHHMI_00060 |
59972 |
21 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2068G>A |
None |
M0086119 |
LGGJHHMI_00060 |
60001 |
22 |
Skin |
0.25 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2097A>G |
None |
M0086120 |
LGGJHHMI_00063 |
60011 |
21 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
4A>G |
Thr2Ala |
M0086121 |
LGGJHHMI_00063 |
60014 |
22 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
7G>A |
Ala3Thr |
M0086122 |
LGGJHHMI_00063 |
60120 |
22 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
113C>T |
Thr38Met |
M0086123 |
LGGJHHMI_00063 |
60133 |
22 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
126T>C |
Pro42Pro |
M0086124 |
LGGJHHMI_00063 |
60136 |
22 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
129G>A |
Ala43Ala |
M0086125 |
LGGJHHMI_00063 |
60172 |
22 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
165C>G |
Leu55Leu |
M0086126 |
LGGJHHMI_00063 |
60219 |
22 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
212T>C |
Leu71Pro |
M0086127 |
LGGJHHMI_00063 |
60223 |
22 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
216C>T |
Leu72Leu |
M0086128 |
LGGJHHMI_00064 |
60411 |
22 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1494T>C |
Gly498Gly |
M0086129 |
LGGJHHMI_00064 |
60435 |
22 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1470G>A |
Lys490Lys |
M0086130 |
LGGJHHMI_00064 |
60486 |
22 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1419T>G |
Val473Val |
M0086131 |
LGGJHHMI_00064 |
60492 |
22 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1413A>G |
Ala471Ala |
M0086132 |
LGGJHHMI_00064 |
60498 |
22 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1407T>C |
Ala469Ala |
M0086133 |
LGGJHHMI_00064 |
60510 |
22 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1395C>G |
Val465Val |
M0086134 |
LGGJHHMI_00064 |
60516 |
22 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1389T>C |
Phe463Phe |
M0086135 |
LGGJHHMI_00064 |
60563 |
22 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1342T>C |
Leu448Leu |
M0086136 |
LGGJHHMI_00064 |
60588 |
21 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1317T>C |
Gly439Gly |
M0086137 |
LGGJHHMI_00064 |
60596 |
21 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1309T>C |
Leu437Leu |
M0086138 |
LGGJHHMI_00064 |
60678 |
20 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1227G>A |
Ala409Ala |
M0086139 |
LGGJHHMI_00064 |
60729 |
20 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1176G>T |
Val392Val |
M0086140 |
LGGJHHMI_00064 |
60737 |
20 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
1168G>A |
Val390Met |
M0086141 |
LGGJHHMI_00064 |
60753 |
20 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1152T>C |
Tyr384Tyr |
M0086142 |
LGGJHHMI_00064 |
60776 |
20 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1129C>T |
Leu377Leu |
M0086143 |
LGGJHHMI_00064 |
60852 |
19 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1053G>C |
Pro351Pro |
M0086144 |
LGGJHHMI_00064 |
60862 |
19 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
1043G>C |
Gly348Ala |
M0086145 |
LGGJHHMI_00064 |
60873 |
19 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1032C>G |
Val344Val |
M0086146 |
LGGJHHMI_00064 |
60898 |
19 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
1007A>G |
Asp336Gly |
M0086147 |
LGGJHHMI_00064 |
60911 |
19 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
994G>A |
Val332Ile |
M0086148 |
LGGJHHMI_00064 |
60945 |
17 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
960C>T |
Asp320Asp |
M0086149 |
LGGJHHMI_00064 |
60983 |
18 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
922A>C |
Arg308Arg |
M0086150 |
LGGJHHMI_00064 |
60993 |
18 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
912C>G |
Val304Val |
M0086151 |
LGGJHHMI_00064 |
61014 |
18 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
891T>C |
Asn297Asn |
M0086152 |
LGGJHHMI_00064 |
61019 |
18 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
886T>G |
Phe296Val |
M0086153 |
LGGJHHMI_00064 |
61051 |
18 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
854C>G |
Ala285Gly |
M0086154 |
LGGJHHMI_00064 |
61059 |
18 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
846G>C |
Ser282Ser |
M0086155 |
LGGJHHMI_00064 |
61061 |
18 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
844T>A |
Ser282Thr |
M0086156 |
LGGJHHMI_00064 |
61067 |
18 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
838C>T |
Leu280Leu |
M0086157 |
LGGJHHMI_00064 |
61068 |
18 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
837T>C |
Asp279Asp |
M0086158 |
LGGJHHMI_00064 |
61083 |
18 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
822T>A |
Ala274Ala |
M0086159 |
LGGJHHMI_00064 |
61099 |
18 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
806G>A |
Arg269His |
M0086160 |
LGGJHHMI_00064 |
61131 |
18 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
774G>A |
Arg258Arg |
M0086161 |
LGGJHHMI_00064 |
61132 |
18 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
773G>A |
Arg258Gln |
M0086162 |
LGGJHHMI_00064 |
61146 |
18 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
759C>G |
Gly253Gly |
M0086163 |
LGGJHHMI_00064 |
61176 |
18 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
729G>A |
Ala243Ala |
M0086164 |
LGGJHHMI_00064 |
61223 |
17 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
682G>T |
Ala228Ser |
M0086165 |
LGGJHHMI_00064 |
61224 |
17 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
681C>A |
Arg227Arg |
M0086166 |
LGGJHHMI_00064 |
61232 |
17 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
673A>G |
Thr225Ala |
M0086167 |
LGGJHHMI_00064 |
61260 |
17 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
645T>C |
Tyr215Tyr |
M0086168 |
LGGJHHMI_00064 |
61470 |
15 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
435C>T |
Gly145Gly |
M0086169 |
LGGJHHMI_00064 |
61493 |
15 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
412G>T |
Ala138Ser |
M0086170 |
LGGJHHMI_00064 |
61535 |
16 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
370G>A |
Asp124Asn |
M0086171 |
LGGJHHMI_00064 |
61538 |
16 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
367A>G |
Asn123Asp |
M0086172 |
LGGJHHMI_00064 |
61544 |
16 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
361G>A |
Ala121Thr |
M0086173 |
LGGJHHMI_00064 |
61545 |
16 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
360G>C |
Thr120Thr |
M0086174 |
LGGJHHMI_00064 |
61559 |
16 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
346T>G |
Ser116Ala |
M0086175 |
LGGJHHMI_00064 |
61662 |
16 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
243G>C |
Ala81Ala |
M0086176 |
LGGJHHMI_00064 |
61737 |
15 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
168G>A |
Glu56Glu |
M0086177 |
LGGJHHMI_00064 |
61746 |
15 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
159T>C |
Gly53Gly |
M0086178 |
LGGJHHMI_00064 |
61797 |
16 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
108G>C |
Leu36Leu |
M0086179 |
LGGJHHMI_00064 |
61812 |
16 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
93C>T |
Ser31Ser |
M0086180 |
LGGJHHMI_00064 |
61828 |
16 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
77G>A |
Ser26Asn |
M0086181 |
LGGJHHMI_00064 |
61880 |
16 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
25T>C |
Leu9Leu |
M0086182 |
LGGJHHMI_00060 |
61908 |
16 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4004A>G |
None |
M0086183 |
LGGJHHMI_00065 |
61934 |
16 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
340C>T |
Leu114Leu |
M0086184 |
LGGJHHMI_00065 |
61938 |
16 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
336G>A |
Gln112Gln |
M0086185 |
LGGJHHMI_00065 |
61941 |
16 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
333C>T |
Ser111Ser |
M0086186 |
LGGJHHMI_00065 |
61962 |
16 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
312C>T |
Ala104Ala |
M0086187 |
LGGJHHMI_00065 |
61968 |
16 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
306C>G |
Val102Val |
M0086188 |
LGGJHHMI_00065 |
62016 |
16 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
258G>A |
Pro86Pro |
M0086189 |
LGGJHHMI_00065 |
62030 |
16 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
244T>C |
Leu82Leu |
M0086190 |
LGGJHHMI_00065 |
62038 |
16 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
236G>A |
Arg79Gln |
M0086191 |
LGGJHHMI_00065 |
62040 |
16 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
234T>C |
Arg78Arg |
M0086192 |
LGGJHHMI_00065 |
62069 |
17 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
205G>A |
Ala69Thr |
M0086193 |
LGGJHHMI_00065 |
62070 |
17 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
204A>G |
Gly68Gly |
M0086194 |
LGGJHHMI_00065 |
62085 |
17 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
189T>G |
Arg63Arg |
M0086195 |
LGGJHHMI_00065 |
62187 |
17 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
87T>C |
Ala29Ala |
M0086196 |
LGGJHHMI_00065 |
62189 |
17 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
85G>A |
Ala29Thr |
M0086197 |
LGGJHHMI_00065 |
62232 |
17 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
42C>T |
Asn14Asn |
M0086198 |
LGGJHHMI_00066 |
62300 |
17 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
1377A>G |
Glu459Glu |
M0086199 |
LGGJHHMI_00066 |
62318 |
17 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
1359G>A |
Thr453Thr |
M0086200 |
LGGJHHMI_00066 |
62338 |
16 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
1339G>A |
Val447Ile |
M0086201 |
LGGJHHMI_00066 |
62360 |
16 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1317C>T |
Thr439Thr |
M0086202 |
LGGJHHMI_00066 |
62372 |
17 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
1305C>G |
His435Gln |
M0086203 |
LGGJHHMI_00066 |
62411 |
17 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
1266G>C |
Arg422Arg |
M0086204 |
LGGJHHMI_00066 |
62417 |
17 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
1260A>G |
Glu420Glu |
M0086205 |
LGGJHHMI_00066 |
62426 |
17 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
1251C>T |
Thr417Thr |
M0086206 |
LGGJHHMI_00066 |
62591 |
16 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1086C>G |
Leu362Leu |
M0086207 |
LGGJHHMI_00066 |
62612 |
17 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
1065G>A |
Gln355Gln |
M0086208 |
LGGJHHMI_00066 |
62695 |
18 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
982T>C |
Leu328Leu |
M0086209 |
LGGJHHMI_00066 |
62774 |
20 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
903G>C |
Leu301Leu |
M0086210 |
LGGJHHMI_00066 |
62861 |
18 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
816G>C |
Ala272Ala |
M0086211 |
LGGJHHMI_00066 |
62897 |
19 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
780A>G |
Leu260Leu |
M0086212 |
LGGJHHMI_00066 |
62984 |
21 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
693C>T |
Asp231Asp |
M0086213 |
LGGJHHMI_00066 |
63005 |
21 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
672C>T |
Ser224Ser |
M0086214 |
LGGJHHMI_00066 |
63011 |
21 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
666T>C |
Gly222Gly |
M0086215 |
LGGJHHMI_00066 |
63013 |
21 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
664G>A |
Gly222Ser |
M0086216 |
LGGJHHMI_00066 |
63044 |
21 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
633A>C |
Pro211Pro |
M0086217 |
LGGJHHMI_00060 |
56993 |
27 |
Skin |
0.31 |
protein_coding |
synonymous_variant |
LOW |
912A>C |
Ala304Ala |
M0086218 |
LGGJHHMI_00060 |
56999 |
28 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
906A>G |
Leu302Leu |
M0086219 |
LGGJHHMI_00060 |
57034 |
29 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
871C>T |
Leu291Leu |
M0086220 |
LGGJHHMI_00060 |
57041 |
29 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
864A>G |
Gln288Gln |
M0086221 |
LGGJHHMI_00060 |
57053 |
29 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
852C>T |
Gly284Gly |
M0086222 |
LGGJHHMI_00060 |
57065 |
28 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
840C>T |
Gly280Gly |
M0086223 |
LGGJHHMI_00060 |
57080 |
28 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
825G>A |
Lys275Lys |
M0086224 |
LGGJHHMI_00060 |
57089 |
29 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
816G>A |
Glu272Glu |
M0086225 |
LGGJHHMI_00060 |
57146 |
29 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
759A>G |
Ala253Ala |
M0086226 |
LGGJHHMI_00060 |
57161 |
29 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
744T>C |
Ser248Ser |
M0086227 |
LGGJHHMI_00060 |
57218 |
29 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
687A>G |
Glu229Glu |
M0086228 |
LGGJHHMI_00060 |
57313 |
30 |
Skin |
0.34 |
protein_coding |
missense_variant |
MODERATE |
592G>T |
Asp198Tyr |
M0086229 |
LGGJHHMI_00060 |
57431 |
32 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
474C>T |
Ile158Ile |
M0086230 |
LGGJHHMI_00060 |
57433 |
33 |
Skin |
0.38 |
protein_coding |
missense_variant |
MODERATE |
472A>G |
Ile158Val |
M0086231 |
LGGJHHMI_00060 |
57449 |
33 |
Skin |
0.38 |
protein_coding |
synonymous_variant |
LOW |
456A>G |
Glu152Glu |
M0086232 |
LGGJHHMI_00060 |
57467 |
33 |
Skin |
0.38 |
protein_coding |
synonymous_variant |
LOW |
438C>G |
Ala146Ala |
M0086233 |
LGGJHHMI_00060 |
57533 |
33 |
Skin |
0.38 |
protein_coding |
synonymous_variant |
LOW |
372C>A |
Ala124Ala |
M0086234 |
LGGJHHMI_00062 |
59722 |
15 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
147T>C |
Arg49Arg |
M0086235 |
LGGJHHMI_00062 |
59727 |
15 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
142T>C |
Ser48Pro |
M0086236 |
LGGJHHMI_00062 |
59743 |
14 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
126A>G |
Arg42Arg |
M0086237 |
LGGJHHMI_00062 |
59763 |
14 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
106C>A |
Arg36Arg |
M0086238 |
LGGJHHMI_00062 |
59772 |
15 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
97C>G |
Arg33Gly |
M0086239 |
LGGJHHMI_00062 |
59780 |
14 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
89A>G |
Asn30Ser |
M0086240 |
LGGJHHMI_00062 |
59791 |
14 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
78T>C |
Cys26Cys |
M0086241 |
LGGJHHMI_00062 |
59806 |
14 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
63C>T |
Val21Val |
M0086242 |
LGGJHHMI_00062 |
59807 |
14 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
62T>C |
Val21Ala |
M0086243 |
LGGJHHMI_00062 |
59818 |
14 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
51G>A |
Met17Ile |
M0086244 |
LGGJHHMI_00062 |
59821 |
14 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
48A>G |
Ala16Ala |
M0086245 |
LGGJHHMI_00062 |
59833 |
14 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
36G>A |
Met12Ile |
M0086246 |
LGGJHHMI_00062 |
59835 |
14 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
34A>C |
Met12Leu |
M0086247 |
LGGJHHMI_00062 |
59837 |
14 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
32C>T |
Ser11Phe |
M0086248 |
LGGJHHMI_00064 |
60648 |
19 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1257G>T |
Ala419Ala |
M0086249 |
LGGJHHMI_00069 |
65288 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
438C>T |
Asp146Asp |
M0086250 |
LGGJHHMI_00069 |
65329 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
397C>T |
Leu133Leu |
M0086251 |
LGGJHHMI_00069 |
65351 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
375C>T |
Ala125Ala |
M0086252 |
LGGJHHMI_00069 |
65360 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
366A>C |
Pro122Pro |
M0086253 |
LGGJHHMI_00069 |
65407 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
319G>T |
Ala107Ser |
M0086254 |
LGGJHHMI_00069 |
65476 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
250C>A |
Gln84Lys |
M0086255 |
LGGJHHMI_00069 |
65551 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
175A>G |
Thr59Ala |
M0086256 |
LGGJHHMI_00069 |
65603 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
123A>G |
Pro41Pro |
M0086257 |
LGGJHHMI_00069 |
65635 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
91T>C |
Leu31Leu |
M0086258 |
LGGJHHMI_00069 |
65636 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
90T>C |
Ala30Ala |
M0086259 |
LGGJHHMI_00069 |
65638 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
88G>A |
Ala30Thr |
M0086260 |
LGGJHHMI_00069 |
65717 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
9T>C |
Leu3Leu |
M0086261 |
LGGJHHMI_00064 |
65739 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3835A>C |
None |
M0086262 |
LGGJHHMI_00064 |
65804 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3900C>T |
None |
M0086263 |
LGGJHHMI_00064 |
65831 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3927G>C |
None |
M0086264 |
LGGJHHMI_00064 |
65837 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3933T>C |
None |
M0086265 |
LGGJHHMI_00064 |
65875 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3971A>G |
None |
M0086266 |
LGGJHHMI_00064 |
65891 |
5 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3987T>C |
None |
M0086267 |
LGGJHHMI_00070 |
65942 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
723T>C |
Val241Val |
M0086268 |
LGGJHHMI_00070 |
65962 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
703T>C |
Ser235Pro |
M0086269 |
LGGJHHMI_00070 |
66017 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
648T>G |
Ser216Ser |
M0086270 |
LGGJHHMI_00070 |
66059 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
606G>C |
Thr202Thr |
M0086271 |
LGGJHHMI_00070 |
66079 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
586G>C |
Asp196His |
M0086272 |
LGGJHHMI_00070 |
66091 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
574C>T |
Leu192Leu |
M0086273 |
LGGJHHMI_00070 |
66122 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
543G>A |
Ala181Ala |
M0086274 |
LGGJHHMI_00070 |
66134 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
531C>G |
His177Gln |
M0086275 |
LGGJHHMI_00070 |
66139 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
526T>G |
Ser176Ala |
M0086276 |
LGGJHHMI_00070 |
66148 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
517A>G |
Ile173Val |
M0086277 |
LGGJHHMI_00070 |
66152 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
513C>T |
Asp171Asp |
M0086278 |
LGGJHHMI_00070 |
66177 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
488C>G |
Ala163Gly |
M0086279 |
LGGJHHMI_00070 |
66178 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
487G>C |
Ala163Pro |
M0086280 |
LGGJHHMI_00070 |
66184 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
481G>A |
Val161Met |
M0086281 |
LGGJHHMI_00070 |
66188 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
477T>A |
Pro159Pro |
M0086282 |
LGGJHHMI_00070 |
66239 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
426C>T |
Arg142Arg |
M0086283 |
LGGJHHMI_00070 |
66247 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
418C>A |
His140Asn |
M0086284 |
LGGJHHMI_00070 |
66250 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
415G>T |
Ala139Ser |
M0086285 |
LGGJHHMI_00070 |
66260 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
405C>G |
Ala135Ala |
M0086286 |
LGGJHHMI_00070 |
66266 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
399G>C |
Ala133Ala |
M0086287 |
LGGJHHMI_00070 |
66293 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
372C>T |
Ile124Ile |
M0086288 |
LGGJHHMI_00070 |
66294 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
371T>C |
Ile124Thr |
M0086289 |
LGGJHHMI_00070 |
66324 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
341G>A |
Gly114Glu |
M0086290 |
LGGJHHMI_00070 |
66372 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
293G>A |
Arg98Gln |
M0086291 |
LGGJHHMI_00070 |
66378 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
287G>A |
Ser96Asn |
M0086292 |
LGGJHHMI_00070 |
66388 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
277C>G |
Pro93Ala |
M0086293 |
LGGJHHMI_00070 |
66398 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
267A>C |
Ile89Ile |
M0086294 |
LGGJHHMI_00070 |
66415 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
250A>G |
Thr84Ala |
M0086295 |
LGGJHHMI_00070 |
66422 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
243C>T |
Tyr81Tyr |
M0086296 |
LGGJHHMI_00070 |
66431 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
234T>C |
Cys78Cys |
M0086297 |
LGGJHHMI_00070 |
66458 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
207T>G |
Gly69Gly |
M0086298 |
LGGJHHMI_00070 |
66476 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
189C>G |
Ala63Ala |
M0086299 |
LGGJHHMI_00070 |
66509 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
156T>C |
Ala52Ala |
M0086300 |
LGGJHHMI_00070 |
66520 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
145T>C |
Ser49Pro |
M0086301 |
LGGJHHMI_00070 |
66550 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
115G>A |
Val39Met |
M0086302 |
LGGJHHMI_00070 |
66553 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
112C>T |
Pro38Ser |
M0086303 |
LGGJHHMI_00070 |
66576 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
89A>G |
His30Arg |
M0086304 |
LGGJHHMI_00070 |
66596 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
69G>T |
Val23Val |
M0086305 |
LGGJHHMI_00064 |
66670 |
6 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4766A>G |
None |
M0086306 |
LGGJHHMI_00064 |
66677 |
6 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4773A>C |
None |
M0086307 |
LGGJHHMI_00071 |
66698 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
2860A>G |
Thr954Ala |
M0086308 |
LGGJHHMI_00071 |
66702 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2856T>C |
Pro952Pro |
M0086309 |
LGGJHHMI_00071 |
66750 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2808G>C |
Ala936Ala |
M0086310 |
LGGJHHMI_00071 |
66756 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2802G>C |
Leu934Leu |
M0086311 |
LGGJHHMI_00071 |
66759 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2799G>A |
Glu933Glu |
M0086312 |
LGGJHHMI_00071 |
66810 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2748G>C |
Pro916Pro |
M0086313 |
LGGJHHMI_00071 |
66867 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2691A>G |
Glu897Glu |
M0086314 |
LGGJHHMI_00071 |
66873 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
2685C>G |
Ser895Arg |
M0086315 |
LGGJHHMI_00071 |
66874 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
2684G>C |
Ser895Thr |
M0086316 |
LGGJHHMI_00071 |
66875 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
2683A>T |
Ser895Cys |
M0086317 |
LGGJHHMI_00071 |
66882 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2676C>G |
Leu892Leu |
M0086318 |
LGGJHHMI_00071 |
66912 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2646A>G |
Glu882Glu |
M0086319 |
LGGJHHMI_00071 |
66948 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2610G>T |
Ala870Ala |
M0086320 |
LGGJHHMI_00071 |
66951 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2607T>C |
Asn869Asn |
M0086321 |
LGGJHHMI_00071 |
66966 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2592G>C |
Arg864Arg |
M0086322 |
LGGJHHMI_00071 |
66969 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2589C>G |
Ala863Ala |
M0086323 |
LGGJHHMI_00071 |
66999 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2559G>C |
Ser853Ser |
M0086324 |
LGGJHHMI_00071 |
67055 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
2503T>C |
Leu835Leu |
M0086325 |
LGGJHHMI_00071 |
67164 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
2394T>C |
Gly798Gly |
M0086326 |
LGGJHHMI_00071 |
67254 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2304T>C |
Ile768Ile |
M0086327 |
LGGJHHMI_00071 |
67257 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2301C>G |
Ser767Ser |
M0086328 |
LGGJHHMI_00071 |
67263 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2295G>A |
Gln765Gln |
M0086329 |
LGGJHHMI_00071 |
67266 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2292G>C |
Ala764Ala |
M0086330 |
LGGJHHMI_00071 |
67284 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2274C>G |
Ala758Ala |
M0086331 |
LGGJHHMI_00071 |
67317 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2241C>G |
Val747Val |
M0086332 |
LGGJHHMI_00071 |
67318 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
2240T>C |
Val747Ala |
M0086333 |
LGGJHHMI_00071 |
67320 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2238A>G |
Glu746Glu |
M0086334 |
LGGJHHMI_00071 |
67323 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2235G>C |
Pro745Pro |
M0086335 |
LGGJHHMI_00071 |
67340 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
2218C>T |
Pro740Ser |
M0086336 |
LGGJHHMI_00071 |
67359 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2199T>C |
Asp733Asp |
M0086337 |
LGGJHHMI_00071 |
67380 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2178C>T |
Asp726Asp |
M0086338 |
LGGJHHMI_00071 |
67407 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
2151C>G |
Arg717Arg |
M0086339 |
LGGJHHMI_00071 |
67425 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
2133G>T |
Pro711Pro |
M0086340 |
LGGJHHMI_00071 |
67437 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
2121T>C |
Asp707Asp |
M0086341 |
LGGJHHMI_00071 |
67442 |
7 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
2116G>C |
Gly706Arg |
M0086342 |
LGGJHHMI_00071 |
67492 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
2066A>G |
Glu689Gly |
M0086343 |
LGGJHHMI_00071 |
67493 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
2065G>A |
Glu689Lys |
M0086344 |
LGGJHHMI_00071 |
67494 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
2064C>T |
Asp688Asp |
M0086345 |
LGGJHHMI_00071 |
67510 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
2048G>A |
Arg683Gln |
M0086346 |
LGGJHHMI_00071 |
67557 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
2001C>G |
Thr667Thr |
M0086347 |
LGGJHHMI_00071 |
67602 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1956G>A |
Arg652Arg |
M0086348 |
LGGJHHMI_00071 |
67632 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1926C>T |
Asp642Asp |
M0086349 |
LGGJHHMI_00071 |
67644 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1914C>T |
Asp638Asp |
M0086350 |
LGGJHHMI_00071 |
67673 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1885C>A |
Pro629Thr |
M0086351 |
LGGJHHMI_00071 |
67677 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1881T>C |
Asp627Asp |
M0086352 |
LGGJHHMI_00071 |
67776 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1782C>G |
Pro594Pro |
M0086353 |
LGGJHHMI_00071 |
67851 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1707G>T |
Ala569Ala |
M0086354 |
LGGJHHMI_00071 |
67878 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1680T>C |
Tyr560Tyr |
M0086355 |
LGGJHHMI_00071 |
67896 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1662T>C |
Asn554Asn |
M0086356 |
LGGJHHMI_00071 |
67971 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1587C>G |
Arg529Arg |
M0086357 |
LGGJHHMI_00071 |
68138 |
7 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1420C>T |
Pro474Ser |
M0086358 |
LGGJHHMI_00071 |
68193 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1365A>G |
Glu455Glu |
M0086359 |
LGGJHHMI_00071 |
68196 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1362G>A |
Glu454Glu |
M0086360 |
LGGJHHMI_00071 |
68202 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1356G>A |
Val452Val |
M0086361 |
LGGJHHMI_00071 |
68208 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1350G>A |
Gln450Gln |
M0086362 |
LGGJHHMI_00071 |
68217 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1341G>C |
Ala447Ala |
M0086363 |
LGGJHHMI_00071 |
68241 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1317A>G |
Gln439Gln |
M0086364 |
LGGJHHMI_00071 |
68256 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1302C>T |
Asp434Asp |
M0086365 |
LGGJHHMI_00071 |
68298 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1260A>G |
Ala420Ala |
M0086366 |
LGGJHHMI_00071 |
68316 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1242C>T |
His414His |
M0086367 |
LGGJHHMI_00071 |
68356 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1202C>A |
Ala401Glu |
M0086368 |
LGGJHHMI_00071 |
68357 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1201G>C |
Ala401Pro |
M0086369 |
LGGJHHMI_00071 |
68358 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1200T>G |
Arg400Arg |
M0086370 |
LGGJHHMI_00071 |
68361 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1197G>C |
Thr399Thr |
M0086371 |
LGGJHHMI_00071 |
68379 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1179C>A |
Thr393Thr |
M0086372 |
LGGJHHMI_00071 |
68391 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1167C>T |
Ala389Ala |
M0086373 |
LGGJHHMI_00071 |
68412 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1146G>C |
Leu382Leu |
M0086374 |
LGGJHHMI_00071 |
68505 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1053C>T |
Asp351Asp |
M0086375 |
LGGJHHMI_00071 |
68514 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1044A>G |
Lys348Lys |
M0086376 |
LGGJHHMI_00071 |
68532 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1026G>C |
Leu342Leu |
M0086377 |
LGGJHHMI_00071 |
68607 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
951T>G |
Leu317Leu |
M0086378 |
LGGJHHMI_00071 |
68694 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
864A>G |
Glu288Glu |
M0086379 |
LGGJHHMI_00071 |
68724 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
834T>C |
Tyr278Tyr |
M0086380 |
LGGJHHMI_00071 |
68748 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
810T>C |
Thr270Thr |
M0086381 |
LGGJHHMI_00071 |
68762 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
796C>T |
Leu266Leu |
M0086382 |
LGGJHHMI_00071 |
68769 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
789C>T |
Asn263Asn |
M0086383 |
LGGJHHMI_00071 |
68826 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
732C>G |
Ala244Ala |
M0086384 |
LGGJHHMI_00071 |
68859 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
699G>C |
Leu233Leu |
M0086385 |
LGGJHHMI_00071 |
68943 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
615C>T |
Arg205Arg |
M0086386 |
LGGJHHMI_00071 |
68955 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
603C>G |
Val201Val |
M0086387 |
LGGJHHMI_00071 |
68971 |
9 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
587G>C |
Arg196Pro |
M0086388 |
LGGJHHMI_00071 |
69002 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
556T>C |
Leu186Leu |
M0086389 |
LGGJHHMI_00071 |
69006 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
552T>G |
Gly184Gly |
M0086390 |
LGGJHHMI_00071 |
69025 |
9 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
533A>G |
Gln178Arg |
M0086391 |
LGGJHHMI_00071 |
69072 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
486A>C |
Gly162Gly |
M0086392 |
LGGJHHMI_00071 |
69122 |
9 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
436A>G |
Asn146Asp |
M0086393 |
LGGJHHMI_00071 |
69176 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
382C>T |
Leu128Leu |
M0086394 |
LGGJHHMI_00071 |
69241 |
9 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
317A>T |
Glu106Val |
M0086395 |
LGGJHHMI_00071 |
69297 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
261T>C |
Asp87Asp |
M0086396 |
LGGJHHMI_00071 |
69308 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
250T>C |
Leu84Leu |
M0086397 |
LGGJHHMI_00071 |
69325 |
9 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
233A>C |
His78Pro |
M0086398 |
LGGJHHMI_00073 |
70524 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
885G>C |
Leu295Leu |
M0086399 |
LGGJHHMI_00073 |
70629 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
780C>G |
Pro260Pro |
M0086400 |
LGGJHHMI_00073 |
70709 |
7 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
700G>T |
Ala234Ser |
M0086401 |
LGGJHHMI_00073 |
70731 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
678T>C |
Ala226Ala |
M0086402 |
LGGJHHMI_00073 |
70736 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
673C>A |
Gln225Lys |
M0086403 |
LGGJHHMI_00073 |
70752 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
657G>C |
Ala219Ala |
M0086404 |
LGGJHHMI_00073 |
70757 |
6 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
652A>C |
Ser218Arg |
M0086405 |
LGGJHHMI_00073 |
70764 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
645T>C |
Val215Val |
M0086406 |
LGGJHHMI_00073 |
70822 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
587A>T |
Gln196Leu |
M0086407 |
LGGJHHMI_00073 |
70834 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
575C>A |
Pro192Gln |
M0086408 |
LGGJHHMI_00073 |
70848 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
561A>C |
Lys187Asn |
M0086409 |
LGGJHHMI_00073 |
70852 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
557C>A |
Thr186Lys |
M0086410 |
LGGJHHMI_00073 |
70869 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
540C>T |
Asp180Asp |
M0086411 |
LGGJHHMI_00073 |
70888 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
521G>A |
Arg174Gln |
M0086412 |
LGGJHHMI_00073 |
70891 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
518T>C |
Met173Thr |
M0086413 |
LGGJHHMI_00073 |
70896 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
513C>T |
Ser171Ser |
M0086414 |
LGGJHHMI_00073 |
70900 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
509C>T |
Thr170Ile |
M0086415 |
LGGJHHMI_00073 |
70908 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
501G>C |
Glu167Asp |
M0086416 |
LGGJHHMI_00073 |
70919 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
490C>A |
Gln164Lys |
M0086417 |
LGGJHHMI_00073 |
71003 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
406T>C |
Leu136Leu |
M0086418 |
LGGJHHMI_00073 |
71004 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
405C>T |
Asp135Asp |
M0086419 |
LGGJHHMI_00073 |
71016 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
393T>G |
Gly131Gly |
M0086420 |
LGGJHHMI_00073 |
71124 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
285G>C |
Ala95Ala |
M0086421 |
LGGJHHMI_00073 |
71127 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
282G>T |
Arg94Arg |
M0086422 |
LGGJHHMI_00073 |
71158 |
9 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
251G>A |
Arg84Lys |
M0086423 |
LGGJHHMI_00073 |
71181 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
228A>G |
Leu76Leu |
M0086424 |
LGGJHHMI_00073 |
71184 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
225G>A |
Glu75Glu |
M0086425 |
LGGJHHMI_00073 |
71202 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
207C>G |
Val69Val |
M0086426 |
LGGJHHMI_00073 |
71262 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
147G>A |
Lys49Lys |
M0086427 |
LGGJHHMI_00073 |
71288 |
9 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
121G>A |
Gly41Ser |
M0086428 |
LGGJHHMI_00073 |
71304 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
105G>C |
Ala35Ala |
M0086429 |
LGGJHHMI_00073 |
71316 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
93C>A |
Gly31Gly |
M0086430 |
LGGJHHMI_00073 |
71337 |
9 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
72G>A |
Lys24Lys |
M0086431 |
LGGJHHMI_00073 |
71342 |
8 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
67A>T |
Ile23Phe |
M0086432 |
LGGJHHMI_00074 |
71420 |
9 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
893C>G |
Ala298Gly |
M0086433 |
LGGJHHMI_00074 |
71451 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
862C>T |
Leu288Leu |
M0086434 |
LGGJHHMI_00074 |
71478 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
835C>T |
Leu279Leu |
M0086435 |
LGGJHHMI_00074 |
71480 |
7 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
833C>T |
Ala278Val |
M0086436 |
LGGJHHMI_00074 |
71494 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
819A>G |
Glu273Glu |
M0086437 |
LGGJHHMI_00074 |
71502 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
811C>T |
Leu271Leu |
M0086438 |
LGGJHHMI_00074 |
71563 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
750G>T |
Leu250Leu |
M0086439 |
LGGJHHMI_00074 |
71608 |
6 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
705G>A |
Ala235Ala |
M0086440 |
LGGJHHMI_00074 |
71698 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
615G>A |
Ala205Ala |
M0086441 |
LGGJHHMI_00074 |
71708 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
605A>G |
His202Arg |
M0086442 |
LGGJHHMI_00074 |
71730 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
583C>T |
Leu195Leu |
M0086443 |
LGGJHHMI_00074 |
71734 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
579C>G |
Asp193Glu |
M0086444 |
LGGJHHMI_00074 |
71778 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
535T>G |
Ser179Ala |
M0086445 |
LGGJHHMI_00074 |
71779 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
534G>C |
Val178Val |
M0086446 |
LGGJHHMI_00074 |
71826 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
487C>T |
His163Tyr |
M0086447 |
LGGJHHMI_00074 |
71830 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
483G>A |
Thr161Thr |
M0086448 |
LGGJHHMI_00074 |
71839 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
474C>A |
Ile158Ile |
M0086449 |
LGGJHHMI_00074 |
71841 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
472A>G |
Ile158Val |
M0086450 |
LGGJHHMI_00074 |
71842 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
471G>A |
Pro157Pro |
M0086451 |
LGGJHHMI_00074 |
71847 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
466C>G |
Leu156Val |
M0086452 |
LGGJHHMI_00074 |
71869 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
444G>C |
Ser148Ser |
M0086453 |
LGGJHHMI_00074 |
71897 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
416C>A |
Ala139Glu |
M0086454 |
LGGJHHMI_00074 |
71908 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
405T>C |
Ser135Ser |
M0086455 |
LGGJHHMI_00074 |
71914 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
399G>A |
Ala133Ala |
M0086456 |
LGGJHHMI_00074 |
71944 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
369A>C |
Glu123Asp |
M0086457 |
LGGJHHMI_00074 |
71945 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
368A>C |
Glu123Ala |
M0086458 |
LGGJHHMI_00074 |
71951 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
362C>A |
Ala121Glu |
M0086459 |
LGGJHHMI_00074 |
71981 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
332A>T |
Gln111Leu |
M0086460 |
LGGJHHMI_00074 |
71987 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
326A>C |
Asp109Ala |
M0086461 |
LGGJHHMI_00074 |
71989 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
324G>A |
Gln108Gln |
M0086462 |
LGGJHHMI_00074 |
71991 |
5 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
322C>A |
Gln108Lys |
M0086463 |
LGGJHHMI_00074 |
71995 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
318G>A |
Pro106Pro |
M0086464 |
LGGJHHMI_00074 |
72061 |
5 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
252A>C |
Pro84Pro |
M0086465 |
LGGJHHMI_00060 |
56828 |
25 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
1077A>G |
Lys359Lys |
M0086466 |
LGGJHHMI_00060 |
56861 |
27 |
Skin |
0.31 |
protein_coding |
missense_variant |
MODERATE |
1044G>C |
Glu348Asp |
M0086467 |
LGGJHHMI_00060 |
56872 |
25 |
Skin |
0.28 |
protein_coding |
missense_variant |
MODERATE |
1033G>A |
Val345Ile |
M0086468 |
LGGJHHMI_00060 |
56873 |
27 |
Skin |
0.31 |
protein_coding |
synonymous_variant |
LOW |
1032G>C |
Ala344Ala |
M0086469 |
LGGJHHMI_00060 |
56875 |
27 |
Skin |
0.31 |
protein_coding |
missense_variant |
MODERATE |
1030G>A |
Ala344Thr |
M0086470 |
LGGJHHMI_00060 |
56932 |
25 |
Skin |
0.28 |
protein_coding |
synonymous_variant |
LOW |
973C>T |
Leu325Leu |
M0086471 |
LGGJHHMI_00060 |
57217 |
26 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
688C>T |
Leu230Leu |
M0086472 |
LGGJHHMI_00060 |
57371 |
31 |
Skin |
0.35 |
protein_coding |
synonymous_variant |
LOW |
534C>T |
Arg178Arg |
M0086473 |
LGGJHHMI_00066 |
62481 |
14 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1196A>G |
Gln399Arg |
M0086474 |
LGGJHHMI_00066 |
63476 |
20 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
201T>G |
Gly67Gly |
M0086475 |
LGGJHHMI_00066 |
63603 |
20 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
74T>C |
Ile25Thr |
M0086476 |
LGGJHHMI_00066 |
63610 |
21 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
67C>G |
Pro23Ala |
M0086477 |
LGGJHHMI_00066 |
63644 |
20 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
33G>C |
Arg11Arg |
M0086478 |
LGGJHHMI_00066 |
63648 |
19 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
29G>A |
Arg10His |
M0086479 |
LGGJHHMI_00066 |
63650 |
20 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
27T>G |
Leu9Leu |
M0086480 |
LGGJHHMI_00066 |
63653 |
20 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
24T>C |
Phe8Phe |
M0086481 |
LGGJHHMI_00067 |
63881 |
22 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
751T>C |
Leu251Leu |
M0086482 |
LGGJHHMI_00067 |
63900 |
22 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
732G>C |
Gly244Gly |
M0086483 |
LGGJHHMI_00067 |
63924 |
22 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
708A>T |
Pro236Pro |
M0086484 |
LGGJHHMI_00067 |
64017 |
22 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
615A>G |
Leu205Leu |
M0086485 |
LGGJHHMI_00067 |
64112 |
21 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
520C>T |
Leu174Phe |
M0086486 |
LGGJHHMI_00067 |
64299 |
20 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
333C>T |
Asn111Asn |
M0086487 |
LGGJHHMI_00067 |
64330 |
20 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
302G>C |
Ser101Thr |
M0086488 |
LGGJHHMI_00067 |
64377 |
20 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
255C>A |
Gly85Gly |
M0086489 |
LGGJHHMI_00067 |
64404 |
20 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
228A>G |
Ala76Ala |
M0086490 |
LGGJHHMI_00067 |
64458 |
20 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
174A>C |
Pro58Pro |
M0086491 |
LGGJHHMI_00067 |
64497 |
20 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
135T>C |
Tyr45Tyr |
M0086492 |
LGGJHHMI_00067 |
64551 |
18 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
81C>G |
Ala27Ala |
M0086493 |
LGGJHHMI_00067 |
64556 |
18 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
76T>C |
Phe26Leu |
M0086494 |
LGGJHHMI_00067 |
64574 |
19 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
58A>G |
Ser20Gly |
M0086495 |
LGGJHHMI_00067 |
64586 |
19 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
46G>T |
Ala16Ser |
M0086496 |
LGGJHHMI_00067 |
64599 |
19 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
33A>C |
Arg11Arg |
M0086497 |
LGGJHHMI_00068 |
64674 |
17 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
404C>T |
Pro135Leu |
M0086498 |
LGGJHHMI_00068 |
64754 |
18 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
324T>C |
Asp108Asp |
M0086499 |
LGGJHHMI_00068 |
64787 |
18 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
291C>T |
Arg97Arg |
M0086500 |
LGGJHHMI_00068 |
64845 |
18 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
233G>A |
Arg78Gln |
M0086501 |
LGGJHHMI_00068 |
64880 |
18 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
198G>A |
Glu66Glu |
M0086502 |
LGGJHHMI_00068 |
64912 |
17 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
166G>A |
Val56Ile |
M0086503 |
LGGJHHMI_00068 |
64928 |
17 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
150C>T |
Ala50Ala |
M0086504 |
LGGJHHMI_00060 |
56246 |
19 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1659G>C |
Pro553Pro |
M0086505 |
LGGJHHMI_00060 |
56264 |
19 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1641A>G |
Gly547Gly |
M0086506 |
LGGJHHMI_00060 |
56279 |
19 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1626C>A |
Arg542Arg |
M0086507 |
LGGJHHMI_00060 |
56288 |
19 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1617A>G |
Val539Val |
M0086508 |
LGGJHHMI_00060 |
56311 |
18 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
1594A>G |
Lys532Glu |
M0086509 |
LGGJHHMI_00060 |
56331 |
19 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
1574T>C |
Val525Ala |
M0086510 |
LGGJHHMI_00060 |
56351 |
18 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1554G>A |
Ala518Ala |
M0086511 |
LGGJHHMI_00060 |
56354 |
18 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1551C>T |
Tyr517Tyr |
M0086512 |
LGGJHHMI_00060 |
56372 |
18 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1533C>G |
Pro511Pro |
M0086513 |
LGGJHHMI_00060 |
56459 |
19 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1446T>C |
Arg482Arg |
M0086514 |
LGGJHHMI_00060 |
56521 |
21 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
1384G>A |
Gly462Ser |
M0086515 |
LGGJHHMI_00060 |
56528 |
21 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1377G>A |
Pro459Pro |
M0086516 |
LGGJHHMI_00060 |
56560 |
21 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
1345C>G |
Pro449Ala |
M0086517 |
LGGJHHMI_00060 |
56591 |
21 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1314A>G |
Ala438Ala |
M0086518 |
LGGJHHMI_00060 |
56594 |
21 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1311G>A |
Thr437Thr |
M0086519 |
LGGJHHMI_00060 |
56599 |
21 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
1306C>T |
Pro436Ser |
M0086520 |
LGGJHHMI_00060 |
56606 |
21 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1299C>T |
Thr433Thr |
M0086521 |
LGGJHHMI_00060 |
56649 |
21 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
1256T>C |
Met419Thr |
M0086522 |
LGGJHHMI_00060 |
56665 |
21 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
1240G>A |
Val414Ile |
M0086523 |
LGGJHHMI_00060 |
56683 |
21 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
1222T>C |
Ser408Pro |
M0086524 |
LGGJHHMI_00060 |
56694 |
21 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
1211T>C |
Ile404Thr |
M0086525 |
LGGJHHMI_00060 |
56703 |
21 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
1202C>T |
Ala401Val |
M0086526 |
LGGJHHMI_00060 |
56733 |
21 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
1172A>T |
Gln391Leu |
M0086527 |
LGGJHHMI_00060 |
56740 |
21 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
1165A>C |
Thr389Pro |
M0086528 |
LGGJHHMI_00060 |
56750 |
21 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1155A>G |
Gln385Gln |
M0086529 |
LGGJHHMI_00060 |
56799 |
24 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
1106C>T |
Ala369Val |
M0086530 |
LGGJHHMI_00060 |
56161 |
18 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
1744G>A |
Ala582Thr |
M0086531 |
LGGJHHMI_00060 |
56169 |
18 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
1736G>T |
Ser579Ile |
M0086532 |
LGGJHHMI_00060 |
56180 |
18 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1725C>T |
Tyr575Tyr |
M0086533 |
LGGJHHMI_00060 |
56186 |
18 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1719C>T |
His573His |
M0086534 |
LGGJHHMI_00064 |
61341 |
15 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
564G>A |
Pro188Pro |
M0086535 |
LGGJHHMI_00064 |
61389 |
15 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
516G>A |
Pro172Pro |
M0086536 |
LGGJHHMI_00064 |
61395 |
15 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
510C>T |
Asp170Asp |
M0086537 |
LGGJHHMI_00064 |
61406 |
15 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
499A>T |
Thr167Ser |
M0086538 |
LGGJHHMI_00074 |
72105 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
208A>G |
Thr70Ala |
M0086539 |
LGGJHHMI_00074 |
72130 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
183T>C |
Val61Val |
M0086540 |
LGGJHHMI_00074 |
72133 |
4 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
180T>C |
Gly60Gly |
M0086541 |
LGGJHHMI_00074 |
72135 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
178G>A |
Gly60Ser |
M0086542 |
LGGJHHMI_00074 |
72138 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
175A>G |
Thr59Ala |
M0086543 |
LGGJHHMI_00074 |
72204 |
4 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
109C>G |
Leu37Val |
M0086544 |
LGGJHHMI_00071 |
68820 |
8 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
738T>C |
Arg246Arg |
M0086545 |
LGGJHHMI_00071 |
68829 |
7 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
729A>G |
Lys243Lys |
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 |
LGGJHHMI_00149 |
ARO:3004069 |
72.5 |
5.43e-52 |
1 |
117 |
1.0000 |
0.9677 |
fluoroquinolone antibiotic |
resistance-nodulation-cell division (RND) antibiotic efflux pump |
antibiotic efflux |
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 |
LGGJHHMI_00390 |
PHI:10215 |
pumA |
72.9 |
2e-38 |
1 |
96 |
0.9600 |
0.9697 |
nematodes |
nosocomial infection |
putative addiction module killer protein |
increased virulence (hypervirulence) |
LGGJHHMI_00435 |
PHI:10380 |
RecA |
71.3 |
5.7e-133 |
1 |
328 |
0.9452 |
0.9398 |
nematodes |
nosocomial infection |
DNA strand exchange and recombination protein |
reduced virulence |
LGGJHHMI_00436 |
PHI:10380 |
RecA |
72.3 |
6.7e-66 |
2 |
167 |
0.9486 |
0.9398 |
nematodes |
nosocomial infection |
DNA strand exchange and recombination 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 |
LGGJHHMI_00073 |
CAC86814.1|GH23 |
96 |
1.37e-232 |
1 |
379 |
0.7929 |
0.7842 |
LGGJHHMI_00358 |
QDW60992.1|GH23 |
100 |
8.77e-206 |
1 |
305 |
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 |