Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C38 |
Reference Plasmid |
AP025555.1 |
Reference Plasmid Size |
54827 |
Reference Plasmid GC Content |
0.62 |
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 |
M0058016 |
IJGONIID_00071 |
54241 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
486T>C |
Pro162Pro |
M0058017 |
IJGONIID_00071 |
54456 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
271A>G |
Arg91Gly |
M0058018 |
IJGONIID_00071 |
54473 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
254A>C |
Lys85Thr |
M0058019 |
IJGONIID_00071 |
54474 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
253A>G |
Lys85Glu |
M0058020 |
IJGONIID_00071 |
54485 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
242A>C |
Asp81Ala |
M0058021 |
IJGONIID_00039 |
31654 |
20 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
124A>G |
Ile42Val |
M0058022 |
IJGONIID_00001 |
157 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
53T>C |
Leu18Pro |
M0058023 |
IJGONIID_00001 |
282 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
178G>A |
Asp60Asn |
M0058024 |
IJGONIID_00001 |
348 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
244G>A |
Gly82Ser |
M0058025 |
IJGONIID_00001 |
349 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
245G>A |
Gly82Asp |
M0058026 |
IJGONIID_00001 |
366 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
262A>G |
Lys88Glu |
M0058027 |
IJGONIID_00001 |
368 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
264A>C |
Lys88Asn |
M0058028 |
IJGONIID_00001 |
369 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
265G>A |
Ala89Thr |
M0058029 |
IJGONIID_00001 |
372 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
268G>A |
Ala90Thr |
M0058030 |
IJGONIID_00001 |
377 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
273T>C |
Asn91Asn |
M0058031 |
IJGONIID_00001 |
386 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
282G>A |
Lys94Lys |
M0058032 |
IJGONIID_00070 |
53834 |
17 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
68G>A |
Gly23Asp |
M0058033 |
IJGONIID_00066 |
54803 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3664A>G |
None |
M0058034 |
IJGONIID_00021 |
19994 |
9 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4018A>G |
None |
M0058035 |
IJGONIID_00021 |
20031 |
9 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4055C>A |
None |
M0058036 |
IJGONIID_00021 |
20034 |
9 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4058A>G |
None |
M0058037 |
IJGONIID_00028 |
20178 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1243T>C |
Cys415Arg |
M0058038 |
IJGONIID_00028 |
20226 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1195A>C |
Thr399Pro |
M0058039 |
IJGONIID_00028 |
20409 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1012A>G |
Thr338Ala |
M0058040 |
IJGONIID_00028 |
20417 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1004C>A |
Ala335Asp |
M0058041 |
IJGONIID_00028 |
20459 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
962A>G |
Asn321Ser |
M0058042 |
IJGONIID_00028 |
20460 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
961A>G |
Asn321Asp |
M0058043 |
IJGONIID_00028 |
20508 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
913C>A |
Pro305Thr |
M0058044 |
IJGONIID_00028 |
20642 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
779C>T |
Ala260Val |
M0058045 |
IJGONIID_00028 |
20645 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
776C>T |
Thr259Ile |
M0058046 |
IJGONIID_00028 |
20708 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
713A>G |
Asn238Ser |
M0058047 |
IJGONIID_00028 |
20755 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
666G>T |
Ala222Ala |
M0058048 |
IJGONIID_00028 |
20758 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
663C>T |
Thr221Thr |
M0058049 |
IJGONIID_00028 |
20767 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
654C>A |
His218Gln |
M0058050 |
IJGONIID_00028 |
20769 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
652C>A |
His218Asn |
M0058051 |
IJGONIID_00028 |
20773 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
648A>G |
Gln216Gln |
M0058052 |
IJGONIID_00028 |
20776 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
645A>C |
Glu215Asp |
M0058053 |
IJGONIID_00029 |
21580 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2179C>A |
Arg727Ser |
M0058054 |
IJGONIID_00029 |
21728 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2031T>C |
Asn677Asn |
M0058055 |
IJGONIID_00029 |
21804 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1955G>A |
Arg652Lys |
M0058056 |
IJGONIID_00029 |
21992 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1767T>C |
Ser589Ser |
M0058057 |
IJGONIID_00029 |
22104 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1655G>A |
Arg552His |
M0058058 |
IJGONIID_00029 |
22106 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1653C>T |
Asn551Asn |
M0058059 |
IJGONIID_00029 |
22133 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1626T>C |
Gly542Gly |
M0058060 |
IJGONIID_00029 |
22144 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1615A>G |
Thr539Ala |
M0058061 |
IJGONIID_00029 |
22145 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1614T>C |
Ile538Ile |
M0058062 |
IJGONIID_00029 |
22151 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1608G>A |
Ser536Ser |
M0058063 |
IJGONIID_00029 |
22210 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1549C>G |
Arg517Gly |
M0058064 |
IJGONIID_00029 |
22329 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1430C>T |
Ser477Leu |
M0058065 |
IJGONIID_00029 |
22334 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1425T>C |
Thr475Thr |
M0058066 |
IJGONIID_00029 |
22386 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1373G>T |
Trp458Leu |
M0058067 |
IJGONIID_00029 |
22394 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1365T>C |
Ile455Ile |
M0058068 |
IJGONIID_00029 |
22398 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1361C>T |
Ala454Val |
M0058069 |
IJGONIID_00029 |
22403 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1356G>C |
Ala452Ala |
M0058070 |
IJGONIID_00029 |
22404 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1355C>G |
Ala452Gly |
M0058071 |
IJGONIID_00029 |
22408 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1351G>A |
Gly451Arg |
M0058072 |
IJGONIID_00029 |
22412 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1347T>C |
Ser449Ser |
M0058073 |
IJGONIID_00029 |
22415 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1344C>T |
Arg448Arg |
M0058074 |
IJGONIID_00015 |
8717 |
17 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
523C>T |
Arg175Trp |
M0058075 |
IJGONIID_00015 |
9063 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
177T>C |
Pro59Pro |
M0058076 |
IJGONIID_00016 |
9539 |
17 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
65T>G |
Val22Gly |
M0058077 |
IJGONIID_00016 |
9542 |
17 |
Skin |
0.12 |
protein_coding |
stop_gained |
HIGH |
68G>A |
Trp23* |
M0058078 |
IJGONIID_00021 |
14064 |
17 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1913G>C |
Gly638Ala |
M0058079 |
IJGONIID_00021 |
14360 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1617A>G |
Ala539Ala |
M0058080 |
IJGONIID_00021 |
14417 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1560A>G |
Ala520Ala |
M0058081 |
IJGONIID_00021 |
14453 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1524T>C |
Asp508Asp |
M0058082 |
IJGONIID_00021 |
14477 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1500A>G |
Thr500Thr |
M0058083 |
IJGONIID_00021 |
14486 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1491T>G |
Leu497Leu |
M0058084 |
IJGONIID_00021 |
14576 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1401G>A |
Ala467Ala |
M0058085 |
IJGONIID_00021 |
14792 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1185T>C |
Ser395Ser |
M0058086 |
IJGONIID_00021 |
14827 |
9 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1150G>T |
Ala384Ser |
M0058087 |
IJGONIID_00021 |
14927 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1050C>T |
Val350Val |
M0058088 |
IJGONIID_00021 |
14928 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1049T>C |
Val350Ala |
M0058089 |
IJGONIID_00021 |
14941 |
9 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1036G>A |
Ala346Thr |
M0058090 |
IJGONIID_00021 |
15017 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
960G>A |
Leu320Leu |
M0058091 |
IJGONIID_00021 |
15044 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
933T>C |
Asn311Asn |
M0058092 |
IJGONIID_00021 |
15047 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
930T>C |
Ser310Ser |
M0058093 |
IJGONIID_00021 |
15071 |
16 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
906T>C |
Thr302Thr |
M0058094 |
IJGONIID_00021 |
15161 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
816T>C |
Val272Val |
M0058095 |
IJGONIID_00021 |
15346 |
9 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
631G>A |
Ala211Thr |
M0058096 |
IJGONIID_00021 |
15390 |
9 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
587T>C |
Val196Ala |
M0058097 |
IJGONIID_00021 |
15662 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
315G>A |
Glu105Glu |
M0058098 |
IJGONIID_00021 |
15788 |
18 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
189C>T |
Gly63Gly |
M0058099 |
IJGONIID_00021 |
15824 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
153T>C |
His51His |
M0058100 |
IJGONIID_00021 |
15890 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
87G>A |
Arg29Arg |
M0058101 |
IJGONIID_00021 |
16008 |
9 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-32G>A |
None |
M0058102 |
IJGONIID_00021 |
16109 |
14 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-133G>A |
None |
M0058103 |
IJGONIID_00022 |
16299 |
21 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
182A>C |
Gln61Pro |
M0058104 |
IJGONIID_00022 |
16332 |
14 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
149G>A |
Gly50Asp |
M0058105 |
IJGONIID_00014 |
8318 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
274C>T |
Leu92Phe |
M0058106 |
IJGONIID_00014 |
8332 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
260A>G |
Asp87Gly |
M0058107 |
IJGONIID_00014 |
8411 |
12 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
181G>A |
Ala61Thr |
M0058108 |
IJGONIID_00014 |
8440 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
152A>G |
Asp51Gly |
M0058109 |
IJGONIID_00014 |
8489 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
103A>G |
Ile35Val |
M0058110 |
IJGONIID_00014 |
8571 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
21A>G |
Val7Val |
M0058111 |
IJGONIID_00015 |
8603 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
637A>G |
Met213Val |
M0058112 |
IJGONIID_00015 |
9149 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
91C>T |
Pro31Ser |
M0058113 |
IJGONIID_00021 |
15680 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
297T>C |
Asn99Asn |
M0058114 |
IJGONIID_00021 |
16859 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-883C>A |
None |
M0058115 |
IJGONIID_00021 |
16924 |
8 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-948T>C |
None |
M0058116 |
IJGONIID_00021 |
16973 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-997G>A |
None |
M0058117 |
IJGONIID_00021 |
16975 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-999G>T |
None |
M0058118 |
IJGONIID_00021 |
16982 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1006G>A |
None |
M0058119 |
IJGONIID_00021 |
16995 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1019A>C |
None |
M0058120 |
IJGONIID_00024 |
17083 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
558T>C |
Asp186Asp |
M0058121 |
IJGONIID_00024 |
17089 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
552C>A |
Leu184Leu |
M0058122 |
IJGONIID_00052 |
42393 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
99A>G |
Ala33Ala |
M0058123 |
IJGONIID_00052 |
42495 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
201T>C |
Ala67Ala |
M0058124 |
IJGONIID_00052 |
42498 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
204G>A |
Leu68Leu |
M0058125 |
IJGONIID_00052 |
42869 |
18 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
575T>C |
Val192Ala |
M0058126 |
IJGONIID_00052 |
43014 |
18 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
720G>A |
Glu240Glu |
M0058127 |
IJGONIID_00052 |
43015 |
18 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
721T>C |
Leu241Leu |
M0058128 |
IJGONIID_00052 |
43020 |
18 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
726G>A |
Val242Val |
M0058129 |
IJGONIID_00052 |
43101 |
18 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
807G>A |
Ala269Ala |
M0058130 |
IJGONIID_00052 |
43104 |
18 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
810G>C |
Thr270Thr |
M0058131 |
IJGONIID_00052 |
43227 |
19 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
933T>C |
Leu311Leu |
M0058132 |
IJGONIID_00052 |
43255 |
14 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
961G>A |
Ala321Thr |
M0058133 |
IJGONIID_00052 |
43257 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
963A>C |
Ala321Ala |
M0058134 |
IJGONIID_00053 |
43432 |
12 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
12G>A |
Arg4Arg |
M0058135 |
IJGONIID_00053 |
43471 |
12 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
51G>A |
Val17Val |
M0058136 |
IJGONIID_00053 |
43591 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
171T>C |
Gly57Gly |
M0058137 |
IJGONIID_00053 |
43656 |
12 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
236A>C |
His79Pro |
M0058138 |
IJGONIID_00054 |
43814 |
12 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-268T>C |
None |
M0058139 |
IJGONIID_00054 |
43826 |
18 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-256G>T |
None |
M0058140 |
IJGONIID_00054 |
44068 |
11 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-14T>C |
None |
M0058141 |
IJGONIID_00054 |
44132 |
18 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
51C>T |
Cys17Cys |
M0058142 |
IJGONIID_00054 |
44213 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
132T>C |
Asp44Asp |
M0058143 |
IJGONIID_00054 |
44388 |
12 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
307A>G |
Thr103Ala |
M0058144 |
IJGONIID_00054 |
44657 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
576C>T |
Asp192Asp |
M0058145 |
IJGONIID_00021 |
14192 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1785T>C |
Phe595Phe |
M0058146 |
IJGONIID_00021 |
14267 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1710G>C |
Thr570Thr |
M0058147 |
IJGONIID_00021 |
14268 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1709C>G |
Thr570Arg |
M0058148 |
IJGONIID_00021 |
14517 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1460T>C |
Val487Ala |
M0058149 |
IJGONIID_00021 |
14532 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1445T>C |
Val482Ala |
M0058150 |
IJGONIID_00021 |
14582 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1395T>G |
Leu465Leu |
M0058151 |
IJGONIID_00021 |
14754 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1223G>A |
Arg408Gln |
M0058152 |
IJGONIID_00021 |
14966 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1011G>A |
Ala337Ala |
M0058153 |
IJGONIID_00021 |
14981 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
996G>T |
Pro332Pro |
M0058154 |
IJGONIID_00021 |
14982 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
995C>G |
Pro332Arg |
M0058155 |
IJGONIID_00021 |
14983 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
994C>A |
Pro332Thr |
M0058156 |
IJGONIID_00021 |
14984 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
993G>A |
Lys331Lys |
M0058157 |
IJGONIID_00022 |
16300 |
12 |
Skin |
0.09 |
protein_coding |
stop_gained |
HIGH |
181C>T |
Gln61* |
M0058158 |
IJGONIID_00043 |
34749 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
322C>T |
Leu108Leu |
M0058159 |
IJGONIID_00043 |
34757 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
330C>G |
Arg110Arg |
M0058160 |
IJGONIID_00043 |
34764 |
12 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
337A>C |
Arg113Arg |
M0058161 |
IJGONIID_00043 |
34766 |
12 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
339G>T |
Arg113Ser |
M0058162 |
IJGONIID_00043 |
34796 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
369C>A |
Arg123Arg |
M0058163 |
IJGONIID_00043 |
35069 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
642A>G |
Glu214Glu |
M0058164 |
IJGONIID_00044 |
35317 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
27A>G |
Leu9Leu |
M0058165 |
IJGONIID_00044 |
35362 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
72A>G |
Ala24Ala |
M0058166 |
IJGONIID_00044 |
36169 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
879C>A |
Leu293Leu |
M0058167 |
IJGONIID_00067 |
51620 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
348T>C |
Gly116Gly |
M0058168 |
IJGONIID_00067 |
51827 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
141C>T |
Gly47Gly |
M0058169 |
IJGONIID_00067 |
51830 |
12 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
138T>A |
Pro46Pro |
M0058170 |
IJGONIID_00060 |
52083 |
13 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3147G>C |
None |
M0058171 |
IJGONIID_00043 |
34724 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
297G>A |
Pro99Pro |
M0058172 |
IJGONIID_00043 |
34730 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
303T>C |
Asp101Asp |
M0058173 |
IJGONIID_00043 |
34733 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
306T>C |
Ile102Ile |
M0058174 |
IJGONIID_00043 |
34772 |
12 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
345G>C |
Val115Val |
M0058175 |
IJGONIID_00043 |
34985 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
558T>C |
His186His |
M0058176 |
IJGONIID_00044 |
36043 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
753G>A |
Leu251Leu |
M0058177 |
IJGONIID_00044 |
36083 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
793A>G |
Thr265Ala |
M0058178 |
IJGONIID_00044 |
36085 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
795G>C |
Thr265Thr |
M0058179 |
IJGONIID_00038 |
36186 |
11 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4729T>G |
None |
M0058180 |
IJGONIID_00045 |
36336 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
52T>C |
Tyr18His |
M0058181 |
IJGONIID_00046 |
36649 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
165G>A |
Glu55Glu |
M0058182 |
IJGONIID_00046 |
36731 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
247G>A |
Ala83Thr |
M0058183 |
IJGONIID_00046 |
36733 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
249G>C |
Ala83Ala |
M0058184 |
IJGONIID_00046 |
36778 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
294G>C |
Val98Val |
M0058185 |
IJGONIID_00046 |
36779 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
295G>T |
Val99Leu |
M0058186 |
IJGONIID_00046 |
36780 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
296T>C |
Val99Ala |
M0058187 |
IJGONIID_00046 |
36781 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
297G>A |
Val99Val |
M0058188 |
IJGONIID_00046 |
36784 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
300C>T |
Gly100Gly |
M0058189 |
IJGONIID_00046 |
36817 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
333T>G |
Pro111Pro |
M0058190 |
IJGONIID_00047 |
36879 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
21T>C |
Gly7Gly |
M0058191 |
IJGONIID_00047 |
36999 |
15 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
141G>T |
Gly47Gly |
M0058192 |
IJGONIID_00047 |
37203 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
345G>A |
Gly115Gly |
M0058193 |
IJGONIID_00048 |
37282 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
9T>C |
Arg3Arg |
M0058194 |
IJGONIID_00048 |
37333 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
60G>A |
Pro20Pro |
M0058195 |
IJGONIID_00048 |
37336 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
63G>A |
Val21Val |
M0058196 |
IJGONIID_00048 |
37459 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
186T>A |
Leu62Leu |
M0058197 |
IJGONIID_00049 |
37713 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
42T>G |
Leu14Leu |
M0058198 |
IJGONIID_00049 |
37734 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
63G>C |
Pro21Pro |
M0058199 |
IJGONIID_00049 |
37830 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
159T>G |
Ser53Ser |
M0058200 |
IJGONIID_00049 |
37983 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
312T>C |
Leu104Leu |
M0058201 |
IJGONIID_00049 |
38091 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
420A>C |
Gly140Gly |
M0058202 |
IJGONIID_00049 |
38279 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
608T>C |
Val203Ala |
M0058203 |
IJGONIID_00049 |
38307 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
636C>T |
Pro212Pro |
M0058204 |
IJGONIID_00049 |
38308 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
637G>A |
Glu213Lys |
M0058205 |
IJGONIID_00049 |
38322 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
651G>A |
Ala217Ala |
M0058206 |
IJGONIID_00049 |
38323 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
652A>G |
Ile218Val |
M0058207 |
IJGONIID_00049 |
38328 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
657T>C |
His219His |
M0058208 |
IJGONIID_00049 |
38742 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1071T>C |
Gly357Gly |
M0058209 |
IJGONIID_00049 |
39352 |
15 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1681A>G |
Ser561Gly |
M0058210 |
IJGONIID_00049 |
39402 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1731C>G |
Val577Val |
M0058211 |
IJGONIID_00049 |
39423 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1752A>G |
Leu584Leu |
M0058212 |
IJGONIID_00049 |
39467 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1796A>G |
Asn599Ser |
M0058213 |
IJGONIID_00049 |
39597 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1926G>C |
Arg642Arg |
M0058214 |
IJGONIID_00049 |
39603 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1932G>A |
Ser644Ser |
M0058215 |
IJGONIID_00049 |
39606 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1935G>C |
Val645Val |
M0058216 |
IJGONIID_00049 |
39637 |
14 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1966C>G |
His656Asp |
M0058217 |
IJGONIID_00049 |
40006 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
2335A>G |
Asn779Asp |
M0058218 |
IJGONIID_00049 |
40299 |
15 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
2628C>G |
Ala876Ala |
M0058219 |
IJGONIID_00049 |
40530 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2859A>G |
Thr953Thr |
M0058220 |
IJGONIID_00049 |
40533 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2862C>T |
Asp954Asp |
M0058221 |
IJGONIID_00049 |
40539 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2868C>T |
Ala956Ala |
M0058222 |
IJGONIID_00049 |
40555 |
12 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
2884C>T |
Leu962Leu |
M0058223 |
IJGONIID_00049 |
40668 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
2997A>T |
Val999Val |
M0058224 |
IJGONIID_00049 |
40674 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
3003A>G |
Glu1001Glu |
M0058225 |
IJGONIID_00049 |
40776 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
3105A>G |
Ala1035Ala |
M0058226 |
IJGONIID_00071 |
54230 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
497C>A |
Ala166Asp |
M0058227 |
IJGONIID_00071 |
54569 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
158A>G |
Asp53Gly |
M0058228 |
IJGONIID_00030 |
29804 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3530C>A |
None |
M0058229 |
IJGONIID_00030 |
29932 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3658G>C |
None |
M0058230 |
IJGONIID_00036 |
29957 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
24A>T |
Arg8Ser |
M0058231 |
IJGONIID_00036 |
29960 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
27G>T |
Pro9Pro |
M0058232 |
IJGONIID_00036 |
29987 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
54C>T |
Thr18Thr |
M0058233 |
IJGONIID_00036 |
29990 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
57C>T |
Ile19Ile |
M0058234 |
IJGONIID_00036 |
29996 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
63A>G |
Val21Val |
M0058235 |
IJGONIID_00036 |
30017 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
84C>G |
Thr28Thr |
M0058236 |
IJGONIID_00036 |
30128 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
195C>A |
Ile65Ile |
M0058237 |
IJGONIID_00036 |
30134 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
201C>A |
Ala67Ala |
M0058238 |
IJGONIID_00036 |
30135 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
202A>G |
Asn68Asp |
M0058239 |
IJGONIID_00036 |
30136 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
203A>G |
Asn68Ser |
M0058240 |
IJGONIID_00036 |
30137 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
204T>A |
Asn68Lys |
M0058241 |
IJGONIID_00036 |
30140 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
207G>A |
Glu69Glu |
M0058242 |
IJGONIID_00036 |
30149 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
216A>G |
Arg72Arg |
M0058243 |
IJGONIID_00036 |
30155 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
222A>G |
Ile74Met |
M0058244 |
IJGONIID_00036 |
30187 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
254C>T |
Ala85Val |
M0058245 |
IJGONIID_00036 |
30290 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
357G>C |
Glu119Asp |
M0058246 |
IJGONIID_00036 |
30293 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
360G>A |
Arg120Arg |
M0058247 |
IJGONIID_00036 |
30332 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
399T>C |
Leu133Leu |
M0058248 |
IJGONIID_00036 |
30335 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
402C>G |
Ala134Ala |
M0058249 |
IJGONIID_00037 |
31014 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
153C>T |
Pro51Pro |
M0058250 |
IJGONIID_00038 |
31352 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
106G>A |
Ala36Thr |
M0058251 |
IJGONIID_00038 |
31379 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
79C>T |
Pro27Ser |
M0058252 |
IJGONIID_00040 |
32712 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
595C>G |
Gln199Glu |
M0058253 |
IJGONIID_00041 |
33044 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
112A>G |
Thr38Ala |
M0058254 |
IJGONIID_00042 |
33774 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
81T>G |
Gly27Gly |
M0058255 |
IJGONIID_00042 |
34326 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
633C>T |
Ala211Ala |
M0058256 |
IJGONIID_00042 |
34329 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
636T>C |
Asp212Asp |
M0058257 |
IJGONIID_00042 |
34330 |
14 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
637G>T |
Ala213Ser |
M0058258 |
IJGONIID_00042 |
34338 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
645C>A |
Thr215Thr |
M0058259 |
IJGONIID_00042 |
34341 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
648T>C |
Gly216Gly |
M0058260 |
IJGONIID_00042 |
34348 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
655T>C |
Leu219Leu |
M0058261 |
IJGONIID_00042 |
34350 |
14 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
657G>C |
Leu219Phe |
M0058262 |
IJGONIID_00042 |
34353 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
660C>G |
Thr220Thr |
M0058263 |
IJGONIID_00042 |
34356 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
663G>A |
Pro221Pro |
M0058264 |
IJGONIID_00043 |
34461 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
34G>A |
Val12Met |
M0058265 |
IJGONIID_00043 |
34464 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
37A>G |
Thr13Ala |
M0058266 |
IJGONIID_00043 |
34523 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
96T>G |
Gly32Gly |
M0058267 |
IJGONIID_00003 |
751 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-687C>T |
None |
M0058268 |
IJGONIID_00003 |
755 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-683A>G |
None |
M0058269 |
IJGONIID_00002 |
1387 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
9C>T |
Gly3Gly |
M0058270 |
IJGONIID_00003 |
1780 |
9 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
343A>G |
Ser115Gly |
M0058271 |
IJGONIID_00003 |
1781 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
344G>A |
Ser115Asn |
M0058272 |
IJGONIID_00004 |
2087 |
12 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
156A>C |
Leu52Leu |
M0058273 |
IJGONIID_00049 |
39303 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1632T>C |
Cys544Cys |
M0058274 |
IJGONIID_00049 |
39406 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1735G>A |
Ala579Thr |
M0058275 |
IJGONIID_00049 |
39682 |
9 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
2011G>C |
Val671Leu |
M0058276 |
IJGONIID_00049 |
39979 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
2308G>A |
Ala770Thr |
M0058277 |
IJGONIID_00049 |
39996 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2325T>C |
Arg775Arg |
M0058278 |
IJGONIID_00049 |
40068 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2397T>C |
His799His |
M0058279 |
IJGONIID_00049 |
40551 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
2880G>A |
Gly960Gly |
M0058280 |
IJGONIID_00049 |
40576 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
2905T>C |
Leu969Leu |
M0058281 |
IJGONIID_00049 |
40641 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2970G>A |
Glu990Glu |
M0058282 |
IJGONIID_00049 |
40669 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
2998T>G |
Ser1000Ala |
M0058283 |
IJGONIID_00049 |
40677 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
3006G>A |
Leu1002Leu |
M0058284 |
IJGONIID_00049 |
40680 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
3009C>T |
Val1003Val |
M0058285 |
IJGONIID_00049 |
40719 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
3048T>C |
Asp1016Asp |
M0058286 |
IJGONIID_00049 |
40720 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
3049T>C |
Leu1017Leu |
M0058287 |
IJGONIID_00049 |
40722 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
3051G>C |
Leu1017Phe |
M0058288 |
IJGONIID_00049 |
40724 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
3053G>A |
Ser1018Asn |
M0058289 |
IJGONIID_00049 |
40727 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
3056C>A |
Ala1019Asp |
M0058290 |
IJGONIID_00049 |
40728 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
3057C>G |
Ala1019Ala |
M0058291 |
IJGONIID_00050 |
40814 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
36T>C |
Val12Val |
M0058292 |
IJGONIID_00050 |
40828 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
50G>T |
Arg17Leu |
M0058293 |
IJGONIID_00050 |
40895 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
117A>T |
Ala39Ala |
M0058294 |
IJGONIID_00050 |
40948 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
170A>G |
His57Arg |
M0058295 |
IJGONIID_00050 |
40963 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
185C>A |
Thr62Lys |
M0058296 |
IJGONIID_00050 |
40985 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
207C>T |
Ser69Ser |
M0058297 |
IJGONIID_00050 |
40987 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
209T>C |
Val70Ala |
M0058298 |
IJGONIID_00050 |
40994 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
216G>A |
Glu72Glu |
M0058299 |
IJGONIID_00050 |
41225 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
447T>C |
Pro149Pro |
M0058300 |
IJGONIID_00050 |
41228 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
450G>A |
Glu150Glu |
M0058301 |
IJGONIID_00050 |
41231 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
453T>G |
Ala151Ala |
M0058302 |
IJGONIID_00050 |
41234 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
456C>T |
Ala152Ala |
M0058303 |
IJGONIID_00051 |
41438 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
46G>A |
Ala16Thr |
M0058304 |
IJGONIID_00051 |
41545 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
153T>C |
His51His |
M0058305 |
IJGONIID_00051 |
41551 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
159T>C |
Gly53Gly |
M0058306 |
IJGONIID_00051 |
41647 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
255C>T |
Asp85Asp |
M0058307 |
IJGONIID_00052 |
42504 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
210A>G |
Gly70Gly |
M0058308 |
IJGONIID_00052 |
42507 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
213A>G |
Glu71Glu |
M0058309 |
IJGONIID_00052 |
42509 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
215G>A |
Gly72Asp |
M0058310 |
IJGONIID_00052 |
42510 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
216C>T |
Gly72Gly |
M0058311 |
IJGONIID_00052 |
42513 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
219C>T |
Asp73Asp |
M0058312 |
IJGONIID_00021 |
16022 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-46A>G |
None |
M0058313 |
IJGONIID_00021 |
16176 |
10 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-200C>T |
None |
M0058314 |
IJGONIID_00023 |
16788 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
7C>G |
Pro3Ala |
M0058315 |
IJGONIID_00024 |
17128 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
513T>G |
Thr171Thr |
M0058316 |
IJGONIID_00024 |
17132 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
509T>C |
Val170Ala |
M0058317 |
IJGONIID_00024 |
17134 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
507G>C |
Gln169His |
M0058318 |
IJGONIID_00024 |
17162 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
479T>C |
Val160Ala |
M0058319 |
IJGONIID_00024 |
17383 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
258C>T |
Ile86Ile |
M0058320 |
IJGONIID_00024 |
17392 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
249A>T |
Val83Val |
M0058321 |
IJGONIID_00024 |
17502 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
139A>T |
Met47Leu |
M0058322 |
IJGONIID_00024 |
17536 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
105A>G |
Lys35Lys |
M0058323 |
IJGONIID_00024 |
17545 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
96C>T |
Ser32Ser |
M0058324 |
IJGONIID_00024 |
17546 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
95G>A |
Ser32Asn |
M0058325 |
IJGONIID_00006 |
8058 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4426T>C |
None |
M0058326 |
IJGONIID_00006 |
8065 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4433G>A |
None |
M0058327 |
IJGONIID_00006 |
8067 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4435A>G |
None |
M0058328 |
IJGONIID_00013 |
8086 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
7T>C |
Leu3Leu |
M0058329 |
IJGONIID_00013 |
8088 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
9G>A |
Leu3Leu |
M0058330 |
IJGONIID_00013 |
8121 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
42T>G |
His14Gln |
M0058331 |
IJGONIID_00013 |
8128 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
49G>A |
Val17Ile |
M0058332 |
IJGONIID_00013 |
8133 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
54C>T |
Arg18Arg |
M0058333 |
IJGONIID_00013 |
8196 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
117G>A |
Arg39Arg |
M0058334 |
IJGONIID_00014 |
8373 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
219C>T |
Asn73Asn |
M0058335 |
IJGONIID_00014 |
8375 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
217A>G |
Asn73Asp |
M0058336 |
IJGONIID_00014 |
8453 |
9 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
139C>T |
Pro47Ser |
M0058337 |
IJGONIID_00014 |
8506 |
9 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
86A>G |
Asp29Gly |
M0058338 |
IJGONIID_00015 |
8651 |
9 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
589A>G |
Thr197Ala |
M0058339 |
IJGONIID_00015 |
8693 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
547C>T |
Arg183Cys |
M0058340 |
IJGONIID_00015 |
8745 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
495A>G |
Val165Val |
M0058341 |
IJGONIID_00015 |
8776 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
464C>T |
Ser155Leu |
M0058342 |
IJGONIID_00015 |
8852 |
9 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
388T>G |
Ser130Ala |
M0058343 |
IJGONIID_00007 |
9247 |
8 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3922A>G |
None |
M0058344 |
IJGONIID_00016 |
9476 |
9 |
Skin |
0.07 |
protein_coding |
start_lost |
HIGH |
2T>C |
Met1? |
M0058345 |
IJGONIID_00021 |
14959 |
9 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1018T>A |
Ser340Thr |
M0058346 |
IJGONIID_00040 |
32792 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
675T>C |
His225His |
M0058347 |
IJGONIID_00041 |
33610 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
678A>T |
Ser226Ser |
M0058348 |
IJGONIID_00041 |
33611 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
679G>T |
Ala227Ser |
M0058349 |
IJGONIID_00041 |
33616 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
684A>G |
Glu228Glu |
M0058350 |
IJGONIID_00041 |
33622 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
690A>G |
Ser230Ser |
M0058351 |
IJGONIID_00041 |
33684 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
752A>C |
His251Pro |
M0058352 |
IJGONIID_00041 |
33687 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
755T>G |
Ile252Ser |
M0058353 |
IJGONIID_00041 |
33690 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
758C>G |
Ala253Gly |
M0058354 |
IJGONIID_00043 |
34470 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
43C>T |
Leu15Leu |
M0058355 |
IJGONIID_00043 |
34472 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
45A>G |
Leu15Leu |
M0058356 |
IJGONIID_00043 |
34574 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
147T>A |
Thr49Thr |
M0058357 |
IJGONIID_00043 |
34577 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
150T>A |
Gly50Gly |
M0058358 |
IJGONIID_00043 |
34622 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
195T>C |
Leu65Leu |
M0058359 |
IJGONIID_00043 |
34628 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
201T>C |
Gly67Gly |
M0058360 |
IJGONIID_00043 |
34649 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
222T>C |
Thr74Thr |
M0058361 |
IJGONIID_00043 |
34652 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
225T>G |
Gly75Gly |
M0058362 |
IJGONIID_00043 |
34671 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
244C>T |
Leu82Leu |
M0058363 |
IJGONIID_00038 |
36192 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4735G>A |
None |
M0058364 |
IJGONIID_00047 |
36986 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
128G>A |
Ser43Asn |
M0058365 |
IJGONIID_00049 |
38089 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
418G>C |
Gly140Arg |
M0058366 |
IJGONIID_00049 |
38090 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
419G>C |
Gly140Ala |
M0058367 |
IJGONIID_00049 |
38092 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
421A>G |
Thr141Ala |
M0058368 |
IJGONIID_00049 |
38325 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
654C>T |
Ile218Ile |
M0058369 |
IJGONIID_00049 |
38356 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
685A>G |
Lys229Glu |
M0058370 |
IJGONIID_00049 |
38674 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1003A>C |
Ile335Leu |
M0058371 |
IJGONIID_00049 |
38692 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1021A>G |
Thr341Ala |
M0058372 |
IJGONIID_00049 |
38710 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1039G>A |
Asp347Asn |
M0058373 |
IJGONIID_00056 |
46017 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
347A>C |
Asn116Thr |
M0058374 |
IJGONIID_00056 |
46055 |
9 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
385T>G |
Leu129Val |
M0058375 |
IJGONIID_00056 |
46056 |
9 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
386T>C |
Leu129Ser |
M0058376 |
IJGONIID_00057 |
46095 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
30T>C |
Pro10Pro |
M0058377 |
IJGONIID_00057 |
46196 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
131A>C |
Gln44Pro |
M0058378 |
IJGONIID_00057 |
46203 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
138C>T |
Asp46Asp |
M0058379 |
IJGONIID_00058 |
46493 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
111C>T |
Leu37Leu |
M0058380 |
IJGONIID_00058 |
46907 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
525C>T |
Ala175Ala |
M0058381 |
IJGONIID_00058 |
46991 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
609G>C |
Val203Val |
M0058382 |
IJGONIID_00058 |
47077 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
695G>A |
Gly232Asp |
M0058383 |
IJGONIID_00058 |
47083 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
701G>A |
Gly234Glu |
M0058384 |
IJGONIID_00058 |
47099 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
717G>A |
Glu239Glu |
M0058385 |
IJGONIID_00058 |
47185 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
803A>G |
His268Arg |
M0058386 |
IJGONIID_00029 |
23141 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
618C>T |
Gly206Gly |
M0058387 |
IJGONIID_00029 |
23207 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
552A>G |
Pro184Pro |
M0058388 |
IJGONIID_00029 |
23374 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
385T>C |
Ser129Pro |
M0058389 |
IJGONIID_00029 |
23396 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
363T>C |
Asp121Asp |
M0058390 |
IJGONIID_00029 |
23405 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
354G>A |
Leu118Leu |
M0058391 |
IJGONIID_00029 |
23535 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
224C>G |
Ala75Gly |
M0058392 |
IJGONIID_00029 |
23536 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
223G>A |
Ala75Thr |
M0058393 |
IJGONIID_00029 |
23542 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
217T>C |
Leu73Leu |
M0058394 |
IJGONIID_00029 |
23654 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
105G>A |
Ala35Ala |
M0058395 |
IJGONIID_00030 |
23768 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
2507G>A |
Arg836Gln |
M0058396 |
IJGONIID_00030 |
24070 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2205T>C |
Thr735Thr |
M0058397 |
IJGONIID_00030 |
24073 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2202T>C |
Ile734Ile |
M0058398 |
IJGONIID_00030 |
24076 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2199C>T |
Leu733Leu |
M0058399 |
IJGONIID_00030 |
24085 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2190C>T |
Asn730Asn |
M0058400 |
IJGONIID_00030 |
24115 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2160T>C |
Asp720Asp |
M0058401 |
IJGONIID_00030 |
24118 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2157C>T |
Ile719Ile |
M0058402 |
IJGONIID_00030 |
24229 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2046T>C |
Leu682Leu |
M0058403 |
IJGONIID_00030 |
24282 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1993T>C |
Leu665Leu |
M0058404 |
IJGONIID_00030 |
25027 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1248A>G |
Ser416Ser |
M0058405 |
IJGONIID_00041 |
33341 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
409T>C |
Trp137Arg |
M0058406 |
IJGONIID_00042 |
34365 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
672T>C |
Pro224Pro |
M0058407 |
IJGONIID_00042 |
34368 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
675T>A |
Gly225Gly |
M0058408 |
IJGONIID_00003 |
1846 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
409A>G |
Thr137Ala |
M0058409 |
IJGONIID_00002 |
2369 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-974T>G |
None |
M0058410 |
IJGONIID_00005 |
2580 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
186G>A |
Arg62Arg |
M0058411 |
IJGONIID_00049 |
40762 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
3091G>A |
Ala1031Thr |
M0058412 |
IJGONIID_00053 |
43404 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-17C>A |
None |
M0058413 |
IJGONIID_00054 |
44050 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-32A>C |
None |
M0058414 |
IJGONIID_00054 |
44083 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2T>A |
Val1Glu |
M0058415 |
IJGONIID_00054 |
44287 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
206G>A |
Arg69Gln |
M0058416 |
IJGONIID_00021 |
14564 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1413C>T |
Asp471Asp |
M0058417 |
IJGONIID_00021 |
14684 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1293C>T |
Val431Val |
M0058418 |
IJGONIID_00021 |
14689 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1288A>G |
Thr430Ala |
M0058419 |
IJGONIID_00021 |
14690 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1287C>T |
Asp429Asp |
M0058420 |
IJGONIID_00021 |
14708 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1269A>G |
Lys423Lys |
M0058421 |
IJGONIID_00021 |
14711 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1266T>C |
Gly422Gly |
M0058422 |
IJGONIID_00021 |
14766 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1211C>A |
Thr404Lys |
M0058423 |
IJGONIID_00021 |
14816 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1161C>T |
Thr387Thr |
M0058424 |
IJGONIID_00021 |
14867 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1110C>T |
Val370Val |
M0058425 |
IJGONIID_00021 |
14876 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1101C>T |
His367His |
M0058426 |
IJGONIID_00021 |
14900 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1077C>T |
His359His |
M0058427 |
IJGONIID_00024 |
17312 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
329T>C |
Val110Ala |
M0058428 |
IJGONIID_00024 |
17635 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
6A>C |
Gln2His |
M0058429 |
IJGONIID_00027 |
19689 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
273A>G |
Ala91Ala |
M0058430 |
IJGONIID_00027 |
19872 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
90C>T |
Asp30Asp |
M0058431 |
IJGONIID_00027 |
19878 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
84G>A |
Gln28Gln |
M0058432 |
IJGONIID_00027 |
19881 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
81C>T |
Ala27Ala |
M0058433 |
IJGONIID_00027 |
19886 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
76A>G |
Thr26Ala |
M0058434 |
IJGONIID_00027 |
19888 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
74C>G |
Ala25Gly |
M0058435 |
IJGONIID_00027 |
19889 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
73G>A |
Ala25Thr |
M0058436 |
IJGONIID_00029 |
22352 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1407T>C |
Ser469Ser |
M0058437 |
IJGONIID_00029 |
22967 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
792G>C |
Arg264Arg |
M0058438 |
IJGONIID_00029 |
23276 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
483A>T |
Ala161Ala |
M0058439 |
IJGONIID_00030 |
25484 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
791T>C |
Val264Ala |
M0058440 |
IJGONIID_00030 |
25486 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
789C>T |
Ile263Ile |
M0058441 |
IJGONIID_00030 |
25489 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
786T>C |
His262His |
M0058442 |
IJGONIID_00031 |
26383 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
527T>C |
Leu176Pro |
M0058443 |
IJGONIID_00031 |
26645 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
265T>G |
Ser89Ala |
M0058444 |
IJGONIID_00032 |
26935 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
244T>A |
Leu82Met |
M0058445 |
IJGONIID_00033 |
28080 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
124T>G |
Ser42Ala |
M0058446 |
IJGONIID_00034 |
28875 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
217T>G |
Ser73Ala |
M0058447 |
IJGONIID_00035 |
29100 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
78T>C |
Pro26Pro |
M0058448 |
IJGONIID_00036 |
30008 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
75A>G |
Lys25Lys |
M0058449 |
IJGONIID_00036 |
30200 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
267A>G |
Pro89Pro |
M0058450 |
IJGONIID_00036 |
30215 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
282A>G |
Glu94Glu |
M0058451 |
IJGONIID_00036 |
30221 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
288C>T |
Leu96Leu |
M0058452 |
IJGONIID_00036 |
30240 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
307C>G |
Pro103Ala |
M0058453 |
IJGONIID_00036 |
30242 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
309G>T |
Pro103Pro |
M0058454 |
IJGONIID_00036 |
30245 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
312C>T |
Ala104Ala |
M0058455 |
IJGONIID_00036 |
30249 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
316C>A |
His106Asn |
M0058456 |
IJGONIID_00036 |
30304 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
371C>A |
Ala124Glu |
M0058457 |
IJGONIID_00036 |
30305 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
372A>G |
Ala124Ala |
M0058458 |
IJGONIID_00040 |
32676 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
559T>C |
Tyr187His |
M0058459 |
IJGONIID_00041 |
33176 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
244A>G |
Ser82Gly |
M0058460 |
IJGONIID_00041 |
33177 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
245G>C |
Ser82Thr |
M0058461 |
IJGONIID_00047 |
37035 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
177A>G |
Gly59Gly |
M0058462 |
IJGONIID_00058 |
47294 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
912C>A |
Asn304Lys |
M0058463 |
IJGONIID_00058 |
47387 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1005T>C |
Phe335Phe |
M0058464 |
IJGONIID_00060 |
52285 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3349C>T |
None |
M0058465 |
IJGONIID_00060 |
52295 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3359T>G |
None |
M0058466 |
IJGONIID_00049 |
39811 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2140G>A |
Asp714Asn |
M0058467 |
IJGONIID_00049 |
40653 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2982C>G |
Gly994Gly |
M0058468 |
IJGONIID_00051 |
41617 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
225C>T |
Ala75Ala |
M0058469 |
IJGONIID_00051 |
41929 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
537G>A |
Val179Val |
M0058470 |
IJGONIID_00003 |
1440 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
3G>A |
Val1Val |
M0058471 |
IJGONIID_00002 |
2288 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-893C>T |
None |
M0058472 |
IJGONIID_00058 |
47569 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1187C>A |
Ala396Asp |
M0058473 |
IJGONIID_00006 |
3015 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
618C>T |
His206His |
M0058474 |
IJGONIID_00006 |
3016 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
617A>G |
His206Arg |
M0058475 |
IJGONIID_00006 |
3205 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
428G>A |
Arg143His |
M0058476 |
IJGONIID_00030 |
25309 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
966T>C |
Val322Val |
M0058477 |
IJGONIID_00030 |
25312 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
963T>C |
Asn321Asn |
M0058478 |
IJGONIID_00030 |
25324 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
951T>C |
Asp317Asp |
M0058479 |
IJGONIID_00030 |
25330 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
945G>C |
Thr315Thr |
M0058480 |
IJGONIID_00030 |
25336 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
939T>C |
Arg313Arg |
M0058481 |
IJGONIID_00030 |
25342 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
933T>C |
Ala311Ala |
M0058482 |
IJGONIID_00031 |
26387 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
523T>C |
Phe175Leu |
M0058483 |
IJGONIID_00031 |
26389 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
521T>C |
Leu174Pro |
M0058484 |
IJGONIID_00031 |
26853 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
57C>T |
Asp19Asp |
M0058485 |
IJGONIID_00031 |
26859 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
51C>T |
Gly17Gly |
M0058486 |
IJGONIID_00006 |
3042 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
591G>A |
Leu197Leu |
M0058487 |
IJGONIID_00005 |
2409 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
357T>C |
Gly119Gly |
M0058488 |
IJGONIID_00005 |
2490 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
276G>A |
Glu92Glu |
M0058489 |
IJGONIID_00006 |
2985 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
648C>T |
Asp216Asp |
M0058490 |
IJGONIID_00006 |
3033 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
600G>A |
Glu200Glu |
M0058491 |
IJGONIID_00006 |
3072 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
561G>A |
Glu187Glu |
M0058492 |
IJGONIID_00038 |
31347 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
111C>T |
Ile37Ile |
M0058493 |
IJGONIID_00037 |
31051 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
190G>C |
Ala64Pro |
M0058494 |
IJGONIID_00035 |
29075 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
53T>C |
Ile18Thr |
M0058495 |
IJGONIID_00035 |
29076 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
54C>T |
Ile18Ile |
M0058496 |
IJGONIID_00035 |
29182 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
160G>A |
Ala54Thr |
M0058497 |
IJGONIID_00035 |
29187 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
165G>A |
Arg55Arg |
M0058498 |
IJGONIID_00035 |
29305 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
283T>C |
Leu95Leu |
M0058499 |
IJGONIID_00033 |
27358 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
846T>C |
Gly282Gly |
M0058500 |
IJGONIID_00033 |
27364 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
840A>C |
Leu280Leu |
M0058501 |
IJGONIID_00033 |
27365 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
839T>C |
Leu280Pro |
M0058502 |
IJGONIID_00033 |
27383 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
821C>T |
Ala274Val |
M0058503 |
IJGONIID_00025 |
18239 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1065A>C |
Gly355Gly |
M0058504 |
IJGONIID_00025 |
18287 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1017T>C |
Ser339Ser |
M0058505 |
IJGONIID_00030 |
25285 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
990T>A |
Ala330Ala |
M0058506 |
IJGONIID_00035 |
29439 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
417G>C |
Glu139Asp |
M0058507 |
IJGONIID_00038 |
31415 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
43C>T |
His15Tyr |
M0058508 |
IJGONIID_00021 |
14446 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1531C>T |
Leu511Leu |
M0058509 |
IJGONIID_00021 |
14844 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1133A>C |
Lys378Thr |
M0058510 |
IJGONIID_00036 |
30285 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
352C>A |
Leu118Ile |
M0058511 |
IJGONIID_00051 |
41845 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
453C>T |
His151His |
M0058512 |
IJGONIID_00058 |
46894 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
512C>T |
Thr171Met |
M0058513 |
IJGONIID_00030 |
24247 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2028C>T |
Gly676Gly |
M0058514 |
IJGONIID_00058 |
47897 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1515C>A |
His505Gln |
M0058515 |
IJGONIID_00057 |
46356 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
291C>T |
Ser97Ser |
M0058516 |
IJGONIID_00022 |
16387 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
94A>G |
Ile32Val |
M0058517 |
IJGONIID_00066 |
51085 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
55G>A |
Asp19Asn |
M0058518 |
IJGONIID_00023 |
16591 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
204G>T |
Leu68Leu |
M0058519 |
IJGONIID_00025 |
17839 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1465G>A |
Asp489Asn |
M0058520 |
IJGONIID_00025 |
18395 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
909C>T |
Ala303Ala |
M0058521 |
IJGONIID_00027 |
19815 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
147C>T |
Asn49Asn |
M0058522 |
IJGONIID_00027 |
19817 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
145A>G |
Asn49Asp |
M0058523 |
IJGONIID_00027 |
19824 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
138A>G |
Glu46Glu |
M0058524 |
IJGONIID_00039 |
31560 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
30G>A |
Val10Val |
M0058525 |
IJGONIID_00040 |
32924 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
807G>A |
Glu269Glu |
M0058526 |
IJGONIID_00048 |
37621 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
348A>G |
Val116Val |
M0058527 |
IJGONIID_00048 |
37623 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
350G>C |
Arg117Thr |
M0058528 |
IJGONIID_00048 |
37624 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
351G>C |
Arg117Ser |
M0058529 |
IJGONIID_00049 |
38896 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1225G>A |
Gly409Arg |
M0058530 |
IJGONIID_00049 |
38898 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1227G>A |
Gly409Gly |
M0058531 |
IJGONIID_00049 |
38901 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1230G>A |
Ala410Ala |
M0058532 |
IJGONIID_00049 |
38902 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1231A>G |
Thr411Ala |
M0058533 |
IJGONIID_00049 |
38904 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1233T>C |
Thr411Thr |
M0058534 |
IJGONIID_00049 |
38907 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1236C>G |
Asp412Glu |
M0058535 |
IJGONIID_00049 |
39009 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1338T>C |
Asp446Asp |
M0058536 |
IJGONIID_00049 |
39162 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1491G>A |
Pro497Pro |
M0058537 |
IJGONIID_00049 |
39163 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1492T>G |
Ser498Ala |
M0058538 |
IJGONIID_00049 |
39168 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1497G>A |
Leu499Leu |
M0058539 |
IJGONIID_00049 |
39225 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1554A>C |
Ala518Ala |
M0058540 |
IJGONIID_00049 |
39249 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1578T>C |
Asp526Asp |
M0058541 |
IJGONIID_00049 |
39267 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1596G>A |
Ala532Ala |
M0058542 |
IJGONIID_00049 |
40272 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2601C>T |
Asp867Asp |
M0058543 |
IJGONIID_00050 |
40866 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
88G>A |
Gly30Ser |
M0058544 |
IJGONIID_00051 |
41641 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
249G>A |
Glu83Glu |
M0058545 |
IJGONIID_00051 |
42004 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
612C>T |
Ala204Ala |
M0058546 |
IJGONIID_00051 |
42010 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
618C>T |
Ser206Ser |
M0058547 |
IJGONIID_00051 |
42013 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
621C>G |
Leu207Leu |
M0058548 |
IJGONIID_00051 |
42022 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
630G>A |
Arg210Arg |
M0058549 |
IJGONIID_00051 |
42028 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
636T>C |
Asn212Asn |
M0058550 |
IJGONIID_00051 |
42031 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
639C>G |
Gly213Gly |
M0058551 |
IJGONIID_00051 |
42040 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
648T>C |
Phe216Phe |
M0058552 |
IJGONIID_00051 |
42043 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
651T>G |
Asp217Glu |
M0058553 |
IJGONIID_00051 |
42115 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
723G>C |
Pro241Pro |
M0058554 |
IJGONIID_00051 |
42118 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
726C>A |
Ser242Ser |
M0058555 |
IJGONIID_00051 |
42163 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
771C>T |
Gly257Gly |
M0058556 |
IJGONIID_00051 |
42167 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
775A>C |
Lys259Gln |
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 |
IJGONIID_00018 |
ARO:3000596 |
90.5 |
1.07e-183 |
1 |
284 |
1.0000 |
1.0000 |
macrolide antibiotic |
Erm 23S ribosomal RNA methyltransferase |
antibiotic target alteration |
LCMLLNPD_00018 |
ARO:3000596 |
90.5 |
1.07e-183 |
1 |
284 |
1.0000 |
1.0000 |
macrolide antibiotic |
Erm 23S ribosomal RNA methyltransferase |
antibiotic target alteration |
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 |
IJGONIID_00028 |
BDE68784.1|GH184 |
99.8 |
0 |
1 |
450 |
1 |
0.9719 |
IJGONIID_00049 |
BDE68804.1|CBM50 |
100 |
0 |
1 |
1036 |
1 |
1 |
LCMLLNPD_00028 |
BDE68784.1|GH184 |
99.8 |
0 |
1 |
450 |
1 |
0.9719 |
LCMLLNPD_00049 |
BDE68804.1|CBM50 |
100 |
0 |
1 |
1036 |
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 |