Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C3083 |
Reference Plasmid |
MET0054_bin.6__k81_3374 |
Reference Plasmid Size |
30115 |
Reference Plasmid GC Content |
0.29 |
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 |
M0072146 |
GHPEIEGG_00001 |
966 |
5 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
920A>G |
Asn307Ser |
M0072147 |
GHPEIEGG_00001 |
1171 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1125A>G |
Lys375Lys |
M0072148 |
GHPEIEGG_00001 |
1231 |
8 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1185A>G |
Lys395Lys |
M0072149 |
GHPEIEGG_00001 |
1327 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1281T>C |
Gly427Gly |
M0072150 |
GHPEIEGG_00001 |
1403 |
8 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
1357T>C |
Tyr453His |
M0072151 |
GHPEIEGG_00001 |
1604 |
5 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1558A>G |
Asn520Asp |
M0072152 |
GHPEIEGG_00001 |
2242 |
11 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
2196G>A |
Leu732Leu |
M0072153 |
GHPEIEGG_00003 |
2380 |
9 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1336A>T |
None |
M0072154 |
GHPEIEGG_00002 |
2899 |
8 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
498C>G |
Gly166Gly |
M0072155 |
GHPEIEGG_00002 |
2959 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
438A>T |
Ala146Ala |
M0072156 |
GHPEIEGG_00002 |
3094 |
7 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
303C>G |
Gly101Gly |
M0072157 |
GHPEIEGG_00002 |
3229 |
8 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
168T>C |
Ser56Ser |
M0072158 |
GHPEIEGG_00002 |
3244 |
8 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
153T>C |
Ala51Ala |
M0072159 |
GHPEIEGG_00002 |
3619 |
5 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-223A>G |
None |
M0072160 |
GHPEIEGG_00003 |
4012 |
9 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
297G>A |
Ala99Ala |
M0072161 |
GHPEIEGG_00003 |
4157 |
5 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
442A>G |
Asn148Asp |
M0072162 |
GHPEIEGG_00003 |
4292 |
10 |
Skin |
0.26 |
protein_coding |
missense_variant |
MODERATE |
577G>A |
Val193Ile |
M0072163 |
GHPEIEGG_00003 |
4339 |
8 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
624G>T |
Gly208Gly |
M0072164 |
GHPEIEGG_00003 |
4367 |
7 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
652C>T |
Pro218Ser |
M0072165 |
GHPEIEGG_00003 |
4410 |
8 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
695A>T |
Lys232Met |
M0072166 |
GHPEIEGG_00003 |
4507 |
11 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
792T>G |
Ala264Ala |
M0072167 |
GHPEIEGG_00004 |
4593 |
9 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
27T>C |
His9His |
M0072168 |
GHPEIEGG_00004 |
4632 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
66G>T |
Gly22Gly |
M0072169 |
GHPEIEGG_00004 |
4766 |
12 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
200T>C |
Ile67Thr |
M0072170 |
GHPEIEGG_00004 |
4894 |
13 |
Skin |
0.34 |
protein_coding |
missense_variant |
MODERATE |
328A>G |
Arg110Gly |
M0072171 |
GHPEIEGG_00004 |
5292 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
726A>G |
Leu242Leu |
M0072172 |
GHPEIEGG_00004 |
5506 |
6 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
940A>G |
Ile314Val |
M0072173 |
GHPEIEGG_00004 |
5529 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
963C>G |
Thr321Thr |
M0072174 |
GHPEIEGG_00005 |
6000 |
7 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
227A>G |
Glu76Gly |
M0072175 |
GHPEIEGG_00005 |
6085 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
312G>A |
Ser104Ser |
M0072176 |
GHPEIEGG_00005 |
6193 |
5 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
420G>T |
Met140Ile |
M0072177 |
GHPEIEGG_00005 |
6278 |
9 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
505A>G |
Thr169Ala |
M0072178 |
GHPEIEGG_00005 |
6337 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
564A>G |
Leu188Leu |
M0072179 |
GHPEIEGG_00005 |
6436 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
663C>A |
Ser221Ser |
M0072180 |
GHPEIEGG_00005 |
6838 |
7 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1065A>G |
Gly355Gly |
M0072181 |
GHPEIEGG_00005 |
6896 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1123C>T |
Leu375Phe |
M0072182 |
GHPEIEGG_00005 |
6932 |
9 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
1159A>T |
Ile387Leu |
M0072183 |
GHPEIEGG_00005 |
7218 |
6 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1445G>T |
Ser482Ile |
M0072184 |
GHPEIEGG_00006 |
7996 |
5 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
335G>A |
Arg112Gln |
M0072185 |
GHPEIEGG_00006 |
8318 |
8 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
13C>A |
Gln5Lys |
M0072186 |
GHPEIEGG_00008 |
8668 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
65A>G |
Glu22Gly |
M0072187 |
GHPEIEGG_00008 |
8843 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
240T>C |
His80His |
M0072188 |
GHPEIEGG_00009 |
9366 |
5 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1564A>G |
Met522Val |
M0072189 |
GHPEIEGG_00009 |
9523 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1407C>T |
Ile469Ile |
M0072190 |
GHPEIEGG_00009 |
9985 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
945A>T |
Ile315Ile |
M0072191 |
GHPEIEGG_00009 |
10033 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
897A>G |
Ala299Ala |
M0072192 |
GHPEIEGG_00009 |
10057 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
873T>C |
Val291Val |
M0072193 |
GHPEIEGG_00009 |
10069 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
861T>A |
Ala287Ala |
M0072194 |
GHPEIEGG_00009 |
10120 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
810G>A |
Pro270Pro |
M0072195 |
GHPEIEGG_00009 |
10255 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
675T>C |
Ser225Ser |
M0072196 |
GHPEIEGG_00009 |
10275 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
655G>A |
Val219Ile |
M0072197 |
GHPEIEGG_00009 |
10339 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
591A>G |
Leu197Leu |
M0072198 |
GHPEIEGG_00009 |
10549 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
381G>T |
Val127Val |
M0072199 |
GHPEIEGG_00009 |
10569 |
5 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
361A>G |
Ile121Val |
M0072200 |
GHPEIEGG_00009 |
10600 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
330T>C |
Asp110Asp |
M0072201 |
GHPEIEGG_00009 |
10630 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
300T>C |
Leu100Leu |
M0072202 |
GHPEIEGG_00009 |
10684 |
7 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
246C>T |
Asn82Asn |
M0072203 |
GHPEIEGG_00011 |
13662 |
11 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
420A>G |
Ile140Met |
M0072204 |
GHPEIEGG_00011 |
13719 |
12 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
363T>A |
Ile121Ile |
M0072205 |
GHPEIEGG_00011 |
13779 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
303G>C |
Ser101Ser |
M0072206 |
GHPEIEGG_00011 |
13829 |
11 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
253A>T |
Ile85Leu |
M0072207 |
GHPEIEGG_00011 |
13848 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
234T>G |
Leu78Leu |
M0072208 |
GHPEIEGG_00011 |
13850 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
232C>T |
Leu78Phe |
M0072209 |
GHPEIEGG_00011 |
13860 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
222C>T |
Phe74Phe |
M0072210 |
GHPEIEGG_00011 |
13872 |
12 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
210T>G |
Val70Val |
M0072211 |
GHPEIEGG_00011 |
13889 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
193C>T |
Leu65Leu |
M0072212 |
GHPEIEGG_00011 |
13906 |
5 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
176A>C |
His59Pro |
M0072213 |
GHPEIEGG_00011 |
13907 |
5 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
175C>T |
His59Tyr |
M0072214 |
GHPEIEGG_00011 |
13908 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
174A>G |
Lys58Lys |
M0072215 |
GHPEIEGG_00011 |
13944 |
11 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
138A>G |
Ile46Met |
M0072216 |
GHPEIEGG_00011 |
13964 |
11 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
118G>A |
Val40Ile |
M0072217 |
GHPEIEGG_00012 |
14587 |
12 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
195A>G |
Leu65Leu |
M0072218 |
GHPEIEGG_00013 |
15960 |
15 |
Skin |
0.39 |
protein_coding |
missense_variant |
MODERATE |
1337T>C |
Met446Thr |
M0072219 |
GHPEIEGG_00011 |
13052 |
7 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
1030A>G |
Asn344Asp |
M0072220 |
GHPEIEGG_00009 |
14311 |
8 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3382C>T |
None |
M0072221 |
GHPEIEGG_00009 |
14314 |
8 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3385T>A |
None |
M0072222 |
GHPEIEGG_00001 |
1044 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
998T>G |
Ile333Arg |
M0072223 |
GHPEIEGG_00005 |
5986 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
213T>G |
Ser71Ser |
M0072224 |
GHPEIEGG_00001 |
1918 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1872A>C |
Lys624Asn |
M0072225 |
GHPEIEGG_00001 |
2107 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
2061T>C |
Asn687Asn |
M0072226 |
GHPEIEGG_00001 |
2204 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
2158A>G |
Ser720Gly |
M0072227 |
GHPEIEGG_00002 |
2605 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
792T>C |
Arg264Arg |
M0072228 |
GHPEIEGG_00002 |
2674 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
723T>C |
Gly241Gly |
M0072229 |
GHPEIEGG_00002 |
2827 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
570G>A |
Thr190Thr |
M0072230 |
GHPEIEGG_00003 |
4456 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
741T>C |
Asn247Asn |
M0072231 |
GHPEIEGG_00003 |
4529 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
814C>T |
Leu272Leu |
M0072232 |
GHPEIEGG_00004 |
4575 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
9T>A |
Asn3Lys |
M0072233 |
GHPEIEGG_00004 |
4592 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
26A>C |
His9Pro |
M0072234 |
GHPEIEGG_00004 |
4629 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
63A>G |
Leu21Leu |
M0072235 |
GHPEIEGG_00004 |
4641 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
75T>C |
Ser25Ser |
M0072236 |
GHPEIEGG_00004 |
4647 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
81T>G |
Gly27Gly |
M0072237 |
GHPEIEGG_00004 |
4656 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
90T>C |
Ile30Ile |
M0072238 |
GHPEIEGG_00004 |
4674 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
108C>T |
Gly36Gly |
M0072239 |
GHPEIEGG_00004 |
4695 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
129T>G |
Ser43Ser |
M0072240 |
GHPEIEGG_00006 |
11011 |
4 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2681T>G |
None |
M0072241 |
GHPEIEGG_00011 |
12997 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1085A>G |
Gln362Arg |
M0072242 |
GHPEIEGG_00011 |
13017 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1065T>C |
Asn355Asn |
M0072243 |
GHPEIEGG_00011 |
13030 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1052C>A |
Thr351Lys |
M0072244 |
GHPEIEGG_00011 |
13031 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1051A>G |
Thr351Ala |
M0072245 |
GHPEIEGG_00011 |
13033 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1049G>A |
Arg350Lys |
M0072246 |
GHPEIEGG_00011 |
13200 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
882G>A |
Gly294Gly |
M0072247 |
GHPEIEGG_00011 |
13233 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
849C>T |
Ser283Ser |
M0072248 |
GHPEIEGG_00011 |
13239 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
843A>G |
Ala281Ala |
M0072249 |
GHPEIEGG_00011 |
13242 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
840G>A |
Leu280Leu |
M0072250 |
GHPEIEGG_00011 |
13266 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
816C>T |
Ala272Ala |
M0072251 |
GHPEIEGG_00011 |
13278 |
7 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
804C>T |
Thr268Thr |
M0072252 |
GHPEIEGG_00011 |
13296 |
5 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
786G>C |
Gln262His |
M0072253 |
GHPEIEGG_00011 |
13301 |
6 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
781T>C |
Tyr261His |
M0072254 |
GHPEIEGG_00011 |
13325 |
6 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
757A>C |
Asn253His |
M0072255 |
GHPEIEGG_00011 |
13356 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
726C>T |
Ile242Ile |
M0072256 |
GHPEIEGG_00011 |
13365 |
6 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
717C>A |
Asn239Lys |
M0072257 |
GHPEIEGG_00011 |
13506 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
576T>C |
Val192Val |
M0072258 |
GHPEIEGG_00011 |
13521 |
7 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
561A>G |
Thr187Thr |
M0072259 |
GHPEIEGG_00011 |
13526 |
6 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
556G>A |
Glu186Lys |
M0072260 |
GHPEIEGG_00011 |
13547 |
6 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
535A>G |
Asn179Asp |
M0072261 |
GHPEIEGG_00011 |
13554 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
528T>G |
Thr176Thr |
M0072262 |
GHPEIEGG_00011 |
13575 |
7 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
507G>A |
Ala169Ala |
M0072263 |
GHPEIEGG_00011 |
13617 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
465G>A |
Ala155Ala |
M0072264 |
GHPEIEGG_00011 |
13647 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
435A>G |
Glu145Glu |
M0072265 |
GHPEIEGG_00011 |
13752 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
330T>C |
Arg110Arg |
M0072266 |
GHPEIEGG_00011 |
13760 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
322C>T |
Leu108Leu |
M0072267 |
GHPEIEGG_00011 |
13851 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
231A>G |
Arg77Arg |
M0072268 |
GHPEIEGG_00011 |
13945 |
6 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
137T>A |
Ile46Lys |
M0072269 |
GHPEIEGG_00011 |
13976 |
6 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
106G>A |
Glu36Lys |
M0072270 |
GHPEIEGG_00011 |
14043 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
39C>T |
Ala13Ala |
M0072271 |
GHPEIEGG_00011 |
14046 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
36C>T |
Tyr12Tyr |
M0072272 |
GHPEIEGG_00009 |
14151 |
7 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3222T>C |
None |
M0072273 |
GHPEIEGG_00009 |
14152 |
6 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3223T>C |
None |
M0072274 |
GHPEIEGG_00009 |
14153 |
3 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3224C>T |
None |
M0072275 |
GHPEIEGG_00009 |
14185 |
6 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3256A>G |
None |
M0072276 |
GHPEIEGG_00009 |
14192 |
6 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3263T>C |
None |
M0072277 |
GHPEIEGG_00009 |
14194 |
6 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3265T>G |
None |
M0072278 |
GHPEIEGG_00009 |
14202 |
6 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3273C>T |
None |
M0072279 |
GHPEIEGG_00009 |
14270 |
6 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3341T>C |
None |
M0072280 |
GHPEIEGG_00009 |
14277 |
6 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3348G>A |
None |
M0072281 |
GHPEIEGG_00009 |
14334 |
6 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3405T>C |
None |
M0072282 |
GHPEIEGG_00009 |
14346 |
6 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3417C>T |
None |
M0072283 |
GHPEIEGG_00009 |
14367 |
6 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3438C>T |
None |
M0072284 |
GHPEIEGG_00012 |
14443 |
7 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
51A>C |
Ile17Ile |
M0072285 |
GHPEIEGG_00012 |
14689 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
297T>C |
Val99Val |
M0072286 |
GHPEIEGG_00012 |
15355 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
963C>T |
Gly321Gly |
M0072287 |
GHPEIEGG_00013 |
16841 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
456A>G |
Arg152Arg |
M0072288 |
GHPEIEGG_00013 |
17105 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
192A>G |
Lys64Lys |
M0072289 |
GHPEIEGG_00013 |
17135 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
162T>C |
Tyr54Tyr |
M0072290 |
GHPEIEGG_00013 |
17138 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
159T>A |
Thr53Thr |
M0072291 |
GHPEIEGG_00013 |
17206 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
91C>T |
His31Tyr |
M0072292 |
GHPEIEGG_00013 |
17216 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
81T>A |
Ile27Ile |
M0072293 |
GHPEIEGG_00013 |
17267 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
30A>G |
Ala10Ala |
M0072294 |
GHPEIEGG_00013 |
17284 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
13C>T |
Leu5Leu |
M0072295 |
GHPEIEGG_00014 |
17349 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
615G>A |
Glu205Glu |
M0072296 |
GHPEIEGG_00014 |
17364 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
600G>C |
Arg200Arg |
M0072297 |
GHPEIEGG_00014 |
17369 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
595A>G |
Thr199Ala |
M0072298 |
GHPEIEGG_00014 |
17391 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
573C>T |
Asp191Asp |
M0072299 |
GHPEIEGG_00014 |
17414 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
550A>G |
Thr184Ala |
M0072300 |
GHPEIEGG_00014 |
17458 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
506A>T |
Tyr169Phe |
M0072301 |
GHPEIEGG_00014 |
17478 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
486C>T |
Cys162Cys |
M0072302 |
GHPEIEGG_00014 |
17481 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
483A>G |
Leu161Leu |
M0072303 |
GHPEIEGG_00014 |
17493 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
471C>T |
Leu157Leu |
M0072304 |
GHPEIEGG_00014 |
17533 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
431C>A |
Ala144Glu |
M0072305 |
GHPEIEGG_00014 |
17541 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
423G>A |
Val141Val |
M0072306 |
GHPEIEGG_00014 |
17566 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
398T>G |
Ile133Ser |
M0072307 |
GHPEIEGG_00014 |
17568 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
396C>T |
Val132Val |
M0072308 |
GHPEIEGG_00014 |
17595 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
369G>A |
Thr123Thr |
M0072309 |
GHPEIEGG_00014 |
17596 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
368C>T |
Thr123Met |
M0072310 |
GHPEIEGG_00014 |
17646 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
318G>A |
Lys106Lys |
M0072311 |
GHPEIEGG_00014 |
17658 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
306T>A |
Pro102Pro |
M0072312 |
GHPEIEGG_00014 |
17697 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
267T>C |
Arg89Arg |
M0072313 |
GHPEIEGG_00014 |
17730 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
234A>T |
Leu78Leu |
M0072314 |
GHPEIEGG_00005 |
6112 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
339C>T |
Tyr113Tyr |
M0072315 |
GHPEIEGG_00007 |
8383 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
114G>A |
Ala38Ala |
M0072316 |
GHPEIEGG_00007 |
8470 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
27C>T |
Gly9Gly |
M0072317 |
GHPEIEGG_00008 |
8682 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
79G>A |
Glu27Lys |
M0072318 |
GHPEIEGG_00006 |
12908 |
3 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4578G>A |
None |
M0072319 |
GHPEIEGG_00011 |
14012 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
70T>C |
Leu24Leu |
M0072320 |
GHPEIEGG_00015 |
18794 |
14 |
Skin |
0.37 |
protein_coding |
synonymous_variant |
LOW |
702C>A |
Ile234Ile |
M0072321 |
GHPEIEGG_00018 |
21457 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
447T>C |
Asn149Asn |
M0072322 |
GHPEIEGG_00013 |
21495 |
13 |
Skin |
0.34 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4199A>T |
None |
M0072323 |
GHPEIEGG_00022 |
25000 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
111C>T |
Asn37Asn |
M0072324 |
GHPEIEGG_00022 |
25015 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
126C>T |
Gly42Gly |
M0072325 |
GHPEIEGG_00023 |
27437 |
6 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1888A>G |
Thr630Ala |
M0072326 |
GHPEIEGG_00024 |
28308 |
7 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
71A>C |
Asp24Ala |
M0072327 |
GHPEIEGG_00024 |
28335 |
7 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
44A>G |
Lys15Arg |
M0072328 |
GHPEIEGG_00025 |
28624 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
81A>G |
Glu27Glu |
M0072329 |
GHPEIEGG_00025 |
28627 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
84T>C |
Phe28Phe |
M0072330 |
GHPEIEGG_00025 |
28651 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
108A>G |
Lys36Lys |
M0072331 |
GHPEIEGG_00025 |
28684 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
141A>C |
Pro47Pro |
M0072332 |
GHPEIEGG_00012 |
14845 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
453A>G |
Arg151Arg |
M0072333 |
GHPEIEGG_00012 |
14849 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
457A>C |
Lys153Gln |
M0072334 |
GHPEIEGG_00012 |
14856 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
464T>A |
Val155Asp |
M0072335 |
GHPEIEGG_00012 |
14917 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
525G>T |
Arg175Arg |
M0072336 |
GHPEIEGG_00012 |
14985 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
593A>G |
His198Arg |
M0072337 |
GHPEIEGG_00012 |
14989 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
597A>T |
Lys199Asn |
M0072338 |
GHPEIEGG_00012 |
14995 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
603T>C |
Asp201Asp |
M0072339 |
GHPEIEGG_00012 |
15029 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
637A>C |
Arg213Arg |
M0072340 |
GHPEIEGG_00012 |
15034 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
642A>G |
Leu214Leu |
M0072341 |
GHPEIEGG_00012 |
15037 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
645T>C |
Asn215Asn |
M0072342 |
GHPEIEGG_00012 |
15073 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
681G>C |
Lys227Asn |
M0072343 |
GHPEIEGG_00012 |
15088 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
696C>T |
His232His |
M0072344 |
GHPEIEGG_00012 |
15115 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
723T>C |
Ile241Ile |
M0072345 |
GHPEIEGG_00012 |
15221 |
5 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
829A>G |
Lys277Glu |
M0072346 |
GHPEIEGG_00012 |
15241 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
849T>C |
His283His |
M0072347 |
GHPEIEGG_00012 |
15328 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
936A>C |
Arg312Arg |
M0072348 |
GHPEIEGG_00012 |
15385 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
993C>A |
Ser331Ser |
M0072349 |
GHPEIEGG_00012 |
15403 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1011T>C |
Arg337Arg |
M0072350 |
GHPEIEGG_00012 |
15457 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1065T>C |
Phe355Phe |
M0072351 |
GHPEIEGG_00013 |
16889 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
408G>A |
Val136Val |
M0072352 |
GHPEIEGG_00016 |
19660 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
513T>C |
Ser171Ser |
M0072353 |
GHPEIEGG_00016 |
19701 |
6 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
554A>G |
Lys185Arg |
M0072354 |
GHPEIEGG_00013 |
15970 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1327A>G |
Lys443Glu |
M0072355 |
GHPEIEGG_00013 |
16130 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1167C>A |
Val389Val |
M0072356 |
GHPEIEGG_00013 |
16139 |
5 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1158G>T |
Met386Ile |
M0072357 |
GHPEIEGG_00013 |
16259 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1038T>C |
Phe346Phe |
M0072358 |
GHPEIEGG_00013 |
16655 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
642C>A |
Thr214Thr |
M0072359 |
GHPEIEGG_00013 |
16901 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
396T>A |
Thr132Thr |
M0072360 |
GHPEIEGG_00014 |
17322 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
642A>G |
Arg214Arg |
M0072361 |
GHPEIEGG_00014 |
17829 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
135C>T |
Arg45Arg |
M0072362 |
GHPEIEGG_00014 |
17830 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
134G>T |
Arg45Leu |
M0072363 |
GHPEIEGG_00014 |
17853 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
111A>T |
Ala37Ala |
M0072364 |
GHPEIEGG_00014 |
17880 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
84C>A |
Thr28Thr |
M0072365 |
GHPEIEGG_00014 |
17916 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
48C>T |
Tyr16Tyr |
M0072366 |
GHPEIEGG_00015 |
18128 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
36G>A |
Lys12Lys |
M0072367 |
GHPEIEGG_00015 |
18468 |
5 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
376T>C |
Tyr126His |
M0072368 |
GHPEIEGG_00015 |
18518 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
426A>G |
Gly142Gly |
M0072369 |
GHPEIEGG_00015 |
18523 |
6 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
431T>C |
Met144Thr |
M0072370 |
GHPEIEGG_00015 |
18550 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
458C>A |
Ala153Asp |
M0072371 |
GHPEIEGG_00015 |
18659 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
567C>T |
Tyr189Tyr |
M0072372 |
GHPEIEGG_00015 |
18698 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
606T>A |
Ile202Ile |
M0072373 |
GHPEIEGG_00015 |
18727 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
635G>A |
Ser212Asn |
M0072374 |
GHPEIEGG_00015 |
18836 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
744T>C |
Phe248Phe |
M0072375 |
GHPEIEGG_00015 |
18854 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
762T>C |
Ile254Ile |
M0072376 |
GHPEIEGG_00015 |
18893 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
801T>A |
Gly267Gly |
M0072377 |
GHPEIEGG_00015 |
18947 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
855C>T |
Thr285Thr |
M0072378 |
GHPEIEGG_00015 |
18953 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
861T>G |
Val287Val |
M0072379 |
GHPEIEGG_00015 |
18972 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
880G>A |
Val294Ile |
M0072380 |
GHPEIEGG_00015 |
19007 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
915T>G |
Val305Val |
M0072381 |
GHPEIEGG_00015 |
19010 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
918G>T |
Thr306Thr |
M0072382 |
GHPEIEGG_00015 |
19075 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
983T>G |
Phe328Cys |
M0072383 |
GHPEIEGG_00015 |
19107 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1015G>T |
Val339Leu |
M0072384 |
GHPEIEGG_00016 |
19194 |
5 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
47C>T |
Ser16Leu |
M0072385 |
GHPEIEGG_00016 |
19207 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
60A>C |
Lys20Asn |
M0072386 |
GHPEIEGG_00016 |
19216 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
69A>G |
Lys23Lys |
M0072387 |
GHPEIEGG_00016 |
19289 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
142T>C |
Leu48Leu |
M0072388 |
GHPEIEGG_00016 |
19354 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
207C>T |
Asp69Asp |
M0072389 |
GHPEIEGG_00016 |
19357 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
210A>G |
Leu70Leu |
M0072390 |
GHPEIEGG_00016 |
19426 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
279T>C |
His93His |
M0072391 |
GHPEIEGG_00016 |
19432 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
285G>T |
Val95Val |
M0072392 |
GHPEIEGG_00016 |
19444 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
297G>T |
Thr99Thr |
M0072393 |
GHPEIEGG_00016 |
19453 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
306A>G |
Glu102Glu |
M0072394 |
GHPEIEGG_00016 |
19501 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
354C>T |
Ala118Ala |
M0072395 |
GHPEIEGG_00016 |
19503 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
356T>C |
Val119Ala |
M0072396 |
GHPEIEGG_00016 |
19642 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
495A>T |
Ala165Ala |
M0072397 |
GHPEIEGG_00016 |
19780 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
633T>C |
Val211Val |
M0072398 |
GHPEIEGG_00013 |
19821 |
4 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2525T>C |
None |
M0072399 |
GHPEIEGG_00013 |
19828 |
4 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2532A>C |
None |
M0072400 |
GHPEIEGG_00013 |
19829 |
4 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2533G>T |
None |
M0072401 |
GHPEIEGG_00013 |
19833 |
4 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2537G>A |
None |
M0072402 |
GHPEIEGG_00013 |
19834 |
4 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2538A>C |
None |
M0072403 |
GHPEIEGG_00013 |
19849 |
4 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2553T>C |
None |
M0072404 |
GHPEIEGG_00017 |
19904 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
936G>A |
Ala312Ala |
M0072405 |
GHPEIEGG_00017 |
19915 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
925G>C |
Val309Leu |
M0072406 |
GHPEIEGG_00017 |
19919 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
921C>T |
Val307Val |
M0072407 |
GHPEIEGG_00017 |
19955 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
885A>G |
Ile295Met |
M0072408 |
GHPEIEGG_00017 |
19967 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
873T>C |
Phe291Phe |
M0072409 |
GHPEIEGG_00017 |
19973 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
867A>C |
Arg289Arg |
M0072410 |
GHPEIEGG_00017 |
19979 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
861C>T |
Leu287Leu |
M0072411 |
GHPEIEGG_00017 |
20030 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
810A>C |
Lys270Asn |
M0072412 |
GHPEIEGG_00017 |
20053 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
787T>C |
Phe263Leu |
M0072413 |
GHPEIEGG_00017 |
20078 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
762A>G |
Gln254Gln |
M0072414 |
GHPEIEGG_00017 |
20090 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
750C>T |
Cys250Cys |
M0072415 |
GHPEIEGG_00017 |
20100 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
740G>A |
Ser247Asn |
M0072416 |
GHPEIEGG_00017 |
20201 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
639A>G |
Val213Val |
M0072417 |
GHPEIEGG_00017 |
20204 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
636T>C |
Gly212Gly |
M0072418 |
GHPEIEGG_00017 |
20213 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
627T>G |
Ile209Met |
M0072419 |
GHPEIEGG_00017 |
20237 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
603C>T |
Ala201Ala |
M0072420 |
GHPEIEGG_00017 |
20285 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
555T>C |
Asn185Asn |
M0072421 |
GHPEIEGG_00017 |
20317 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
523G>A |
Glu175Lys |
M0072422 |
GHPEIEGG_00017 |
20364 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
476A>C |
Asn159Thr |
M0072423 |
GHPEIEGG_00017 |
20395 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
445A>G |
Met149Val |
M0072424 |
GHPEIEGG_00017 |
20424 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
416A>G |
Glu139Gly |
M0072425 |
GHPEIEGG_00017 |
20461 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
379G>A |
Ala127Thr |
M0072426 |
GHPEIEGG_00017 |
20591 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
249T>C |
Asn83Asn |
M0072427 |
GHPEIEGG_00017 |
20602 |
9 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
238T>C |
Cys80Arg |
M0072428 |
GHPEIEGG_00017 |
20621 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
219C>T |
Phe73Phe |
M0072429 |
GHPEIEGG_00017 |
20693 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
147C>T |
Thr49Thr |
M0072430 |
GHPEIEGG_00017 |
20718 |
6 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
122G>A |
Ser41Asn |
M0072431 |
GHPEIEGG_00017 |
20762 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
78T>C |
Ser26Ser |
M0072432 |
GHPEIEGG_00017 |
20771 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
69C>T |
His23His |
M0072433 |
GHPEIEGG_00013 |
20844 |
7 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3548C>T |
None |
M0072434 |
GHPEIEGG_00013 |
20973 |
4 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3677C>T |
None |
M0072435 |
GHPEIEGG_00013 |
20976 |
4 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3680G>A |
None |
M0072436 |
GHPEIEGG_00018 |
21061 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
51T>C |
Asp17Asp |
M0072437 |
GHPEIEGG_00018 |
21064 |
7 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
54G>T |
Glu18Asp |
M0072438 |
GHPEIEGG_00018 |
21127 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
117A>G |
Glu39Glu |
M0072439 |
GHPEIEGG_00018 |
21178 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
168G>A |
Thr56Thr |
M0072440 |
GHPEIEGG_00018 |
21275 |
5 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
265A>G |
Asn89Asp |
M0072441 |
GHPEIEGG_00018 |
21307 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
297T>C |
Val99Val |
M0072442 |
GHPEIEGG_00018 |
21396 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
386A>G |
Lys129Arg |
M0072443 |
GHPEIEGG_00018 |
21397 |
5 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
387G>T |
Lys129Asn |
M0072444 |
GHPEIEGG_00018 |
21451 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
441T>G |
His147Gln |
M0072445 |
GHPEIEGG_00013 |
21486 |
5 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4190T>C |
None |
M0072446 |
GHPEIEGG_00013 |
21507 |
5 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4211T>C |
None |
M0072447 |
GHPEIEGG_00013 |
21568 |
4 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4272G>C |
None |
M0072448 |
GHPEIEGG_00019 |
21618 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
47G>A |
Arg16Lys |
M0072449 |
GHPEIEGG_00019 |
21634 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
63C>T |
Cys21Cys |
M0072450 |
GHPEIEGG_00019 |
21649 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
78T>A |
Pro26Pro |
M0072451 |
GHPEIEGG_00019 |
21721 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
150T>G |
Pro50Pro |
M0072452 |
GHPEIEGG_00019 |
21734 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
163A>G |
Thr55Ala |
M0072453 |
GHPEIEGG_00019 |
21746 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
175A>G |
Ile59Val |
M0072454 |
GHPEIEGG_00019 |
21777 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
206A>G |
Lys69Arg |
M0072455 |
GHPEIEGG_00019 |
21805 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
234C>T |
Thr78Thr |
M0072456 |
GHPEIEGG_00019 |
21823 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
252A>G |
Ala84Ala |
M0072457 |
GHPEIEGG_00019 |
21835 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
264C>T |
Asn88Asn |
M0072458 |
GHPEIEGG_00019 |
21838 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
267T>C |
Asp89Asp |
M0072459 |
GHPEIEGG_00019 |
21853 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
282T>G |
Ala94Ala |
M0072460 |
GHPEIEGG_00019 |
21856 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
285G>A |
Thr95Thr |
M0072461 |
GHPEIEGG_00019 |
21952 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
381T>C |
His127His |
M0072462 |
GHPEIEGG_00019 |
22105 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
534T>G |
Thr178Thr |
M0072463 |
GHPEIEGG_00019 |
22249 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
678A>G |
Thr226Thr |
M0072464 |
GHPEIEGG_00019 |
22315 |
5 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
744G>T |
Glu248Asp |
M0072465 |
GHPEIEGG_00019 |
22384 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
813T>C |
Asn271Asn |
M0072466 |
GHPEIEGG_00019 |
22390 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
819G>A |
Leu273Leu |
M0072467 |
GHPEIEGG_00019 |
22561 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
990A>C |
Ala330Ala |
M0072468 |
GHPEIEGG_00019 |
22567 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
996A>G |
Leu332Leu |
M0072469 |
GHPEIEGG_00019 |
22570 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
999T>C |
Asp333Asp |
M0072470 |
GHPEIEGG_00019 |
22623 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1052A>G |
Asn351Ser |
M0072471 |
GHPEIEGG_00019 |
22672 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1101G>T |
Ala367Ala |
M0072472 |
GHPEIEGG_00019 |
22679 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1108T>A |
Tyr370Asn |
M0072473 |
GHPEIEGG_00019 |
22705 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1134G>T |
Glu378Asp |
M0072474 |
GHPEIEGG_00019 |
22786 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1215A>G |
Glu405Glu |
M0072475 |
GHPEIEGG_00019 |
22895 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1324G>A |
Asp442Asn |
M0072476 |
GHPEIEGG_00019 |
22921 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1350C>T |
Ile450Ile |
M0072477 |
GHPEIEGG_00014 |
22939 |
4 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4976A>T |
None |
M0072478 |
GHPEIEGG_00020 |
23034 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
78G>T |
Pro26Pro |
M0072479 |
GHPEIEGG_00020 |
23058 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
102T>C |
Pro34Pro |
M0072480 |
GHPEIEGG_00020 |
23085 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
129T>C |
Phe43Phe |
M0072481 |
GHPEIEGG_00020 |
23101 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
145A>C |
Asn49His |
M0072482 |
GHPEIEGG_00020 |
23112 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
156G>A |
Leu52Leu |
M0072483 |
GHPEIEGG_00020 |
23179 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
223G>A |
Val75Met |
M0072484 |
GHPEIEGG_00020 |
23190 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
234G>A |
Lys78Lys |
M0072485 |
GHPEIEGG_00020 |
23298 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
342C>T |
Thr114Thr |
M0072486 |
GHPEIEGG_00020 |
23386 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
430T>C |
Leu144Leu |
M0072487 |
GHPEIEGG_00020 |
23403 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
447A>T |
Ala149Ala |
M0072488 |
GHPEIEGG_00020 |
23461 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
505G>A |
Val169Ile |
M0072489 |
GHPEIEGG_00020 |
23497 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
541A>G |
Ile181Val |
M0072490 |
GHPEIEGG_00020 |
23505 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
549A>G |
Gly183Gly |
M0072491 |
GHPEIEGG_00020 |
23508 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
552C>T |
Ser184Ser |
M0072492 |
GHPEIEGG_00020 |
23529 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
573T>G |
Ser191Ser |
M0072493 |
GHPEIEGG_00020 |
23613 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
657A>G |
Val219Val |
M0072494 |
GHPEIEGG_00020 |
23625 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
669A>C |
Leu223Leu |
M0072495 |
GHPEIEGG_00020 |
23652 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
696G>A |
Leu232Leu |
M0072496 |
GHPEIEGG_00020 |
23703 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
747A>C |
Val249Val |
M0072497 |
GHPEIEGG_00020 |
23755 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
799A>G |
Ile267Val |
M0072498 |
GHPEIEGG_00020 |
23779 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
823C>T |
Leu275Leu |
M0072499 |
GHPEIEGG_00020 |
23878 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
922C>T |
Pro308Ser |
M0072500 |
GHPEIEGG_00020 |
23994 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1038G>A |
Ser346Ser |
M0072501 |
GHPEIEGG_00020 |
24006 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1050G>A |
Gly350Gly |
M0072502 |
GHPEIEGG_00020 |
24060 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1104G>A |
Gly368Gly |
M0072503 |
GHPEIEGG_00020 |
24074 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1118C>T |
Thr373Ile |
M0072504 |
GHPEIEGG_00020 |
24075 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1119A>G |
Thr373Thr |
M0072505 |
GHPEIEGG_00020 |
24108 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1152G>A |
Val384Val |
M0072506 |
GHPEIEGG_00020 |
24115 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1159A>G |
Ile387Val |
M0072507 |
GHPEIEGG_00017 |
24182 |
6 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3343T>C |
None |
M0072508 |
GHPEIEGG_00017 |
24208 |
6 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3369A>G |
None |
M0072509 |
GHPEIEGG_00021 |
24223 |
6 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
546A>G |
Gln182Gln |
M0072510 |
GHPEIEGG_00021 |
24298 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
471C>T |
Tyr157Tyr |
M0072511 |
GHPEIEGG_00021 |
24328 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
441A>C |
Thr147Thr |
M0072512 |
GHPEIEGG_00021 |
24346 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
423G>A |
Glu141Glu |
M0072513 |
GHPEIEGG_00021 |
24377 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
392C>T |
Thr131Ile |
M0072514 |
GHPEIEGG_00021 |
24378 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
391A>G |
Thr131Ala |
M0072515 |
GHPEIEGG_00021 |
24403 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
366C>A |
Thr122Thr |
M0072516 |
GHPEIEGG_00021 |
24493 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
276C>T |
Leu92Leu |
M0072517 |
GHPEIEGG_00021 |
24505 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
264C>T |
Phe88Phe |
M0072518 |
GHPEIEGG_00021 |
24591 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
178T>C |
Leu60Leu |
M0072519 |
GHPEIEGG_00021 |
24622 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
147C>T |
Tyr49Tyr |
M0072520 |
GHPEIEGG_00021 |
24649 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
120C>A |
Thr40Thr |
M0072521 |
GHPEIEGG_00021 |
24669 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
100T>A |
Cys34Ser |
M0072522 |
GHPEIEGG_00021 |
24672 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
97A>C |
Lys33Gln |
M0072523 |
GHPEIEGG_00021 |
24706 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
63T>C |
Pro21Pro |
M0072524 |
GHPEIEGG_00017 |
24770 |
3 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3931A>G |
None |
M0072525 |
GHPEIEGG_00017 |
24785 |
3 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3946T>A |
None |
M0072526 |
GHPEIEGG_00017 |
24832 |
3 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3993A>G |
None |
M0072527 |
GHPEIEGG_00022 |
25105 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
216G>C |
Val72Val |
M0072528 |
GHPEIEGG_00023 |
26087 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
538G>A |
Asp180Asn |
M0072529 |
GHPEIEGG_00023 |
27199 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1650G>A |
Ser550Ser |
M0072530 |
GHPEIEGG_00005 |
6008 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
235A>G |
Lys79Glu |
M0072531 |
GHPEIEGG_00001 |
791 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
745G>A |
Asp249Asn |
M0072532 |
GHPEIEGG_00001 |
1437 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1391A>T |
Glu464Val |
M0072533 |
GHPEIEGG_00002 |
3627 |
4 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-231A>G |
None |
M0072534 |
GHPEIEGG_00003 |
3793 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
78T>C |
Ala26Ala |
M0072535 |
GHPEIEGG_00003 |
3799 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
84G>A |
Glu28Glu |
M0072536 |
GHPEIEGG_00003 |
3812 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
97A>G |
Lys33Glu |
M0072537 |
GHPEIEGG_00003 |
3817 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
102T>G |
Ser34Ser |
M0072538 |
GHPEIEGG_00003 |
3823 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
108T>C |
Asn36Asn |
M0072539 |
GHPEIEGG_00003 |
3826 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
111G>T |
Glu37Asp |
M0072540 |
GHPEIEGG_00003 |
3976 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
261C>T |
Arg87Arg |
M0072541 |
GHPEIEGG_00014 |
17661 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
303A>G |
Lys101Lys |
M0072542 |
GHPEIEGG_00015 |
18292 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
200A>C |
Lys67Thr |
M0072543 |
GHPEIEGG_00015 |
18497 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
405G>T |
Thr135Thr |
M0072544 |
GHPEIEGG_00016 |
19315 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
168A>G |
Leu56Leu |
M0072545 |
GHPEIEGG_00016 |
19420 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
273G>A |
Ala91Ala |
M0072546 |
GHPEIEGG_00016 |
19591 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
444A>G |
Gln148Gln |
M0072547 |
GHPEIEGG_00017 |
19905 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
935C>T |
Ala312Val |
M0072548 |
GHPEIEGG_00017 |
20518 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
322C>T |
Pro108Ser |
M0072549 |
GHPEIEGG_00017 |
20615 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
225T>A |
Ile75Ile |
M0072550 |
GHPEIEGG_00018 |
21015 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
5G>A |
Ser2Asn |
M0072551 |
GHPEIEGG_00018 |
21151 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
141C>T |
Leu47Leu |
M0072552 |
GHPEIEGG_00018 |
21292 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
282C>T |
Arg94Arg |
M0072553 |
GHPEIEGG_00019 |
21743 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
172A>G |
Ile58Val |
M0072554 |
GHPEIEGG_00019 |
21790 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
219T>C |
Ser73Ser |
M0072555 |
GHPEIEGG_00019 |
22139 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
568G>A |
Glu190Lys |
M0072556 |
GHPEIEGG_00019 |
22204 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
633T>C |
Gly211Gly |
M0072557 |
GHPEIEGG_00019 |
22340 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
769T>G |
Ser257Ala |
M0072558 |
GHPEIEGG_00019 |
22624 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1053C>T |
Asn351Asn |
M0072559 |
GHPEIEGG_00019 |
22664 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1093A>G |
Thr365Ala |
M0072560 |
GHPEIEGG_00019 |
22666 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1095C>T |
Thr365Thr |
M0072561 |
GHPEIEGG_00020 |
23370 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
414T>C |
Phe138Phe |
M0072562 |
GHPEIEGG_00020 |
23706 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
750C>T |
Ser250Ser |
M0072563 |
GHPEIEGG_00017 |
24170 |
3 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3331C>T |
None |
M0072564 |
GHPEIEGG_00017 |
24184 |
3 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3345T>C |
None |
M0072565 |
GHPEIEGG_00001 |
523 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
477C>T |
Ser159Ser |
M0072566 |
GHPEIEGG_00001 |
2089 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
2043C>T |
Asn681Asn |
M0072567 |
GHPEIEGG_00002 |
3109 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
288T>C |
Gly96Gly |
M0072568 |
GHPEIEGG_00002 |
3160 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
237T>C |
Asp79Asp |
M0072569 |
GHPEIEGG_00002 |
3575 |
4 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-179G>A |
None |
M0072570 |
GHPEIEGG_00004 |
4896 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
330G>A |
Arg110Arg |
M0072571 |
GHPEIEGG_00004 |
4897 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
331G>A |
Glu111Lys |
M0072572 |
GHPEIEGG_00004 |
4920 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
354A>G |
Leu118Leu |
M0072573 |
GHPEIEGG_00004 |
4932 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
366T>C |
Asp122Asp |
M0072574 |
GHPEIEGG_00004 |
4962 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
396C>T |
Ser132Ser |
M0072575 |
GHPEIEGG_00004 |
5112 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
546T>A |
Ala182Ala |
M0072576 |
GHPEIEGG_00004 |
5145 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
579C>T |
Ala193Ala |
M0072577 |
GHPEIEGG_00004 |
5190 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
624C>T |
Arg208Arg |
M0072578 |
GHPEIEGG_00004 |
5215 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
649A>G |
Thr217Ala |
M0072579 |
GHPEIEGG_00004 |
5244 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
678G>A |
Leu226Leu |
M0072580 |
GHPEIEGG_00004 |
5280 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
714C>A |
Asn238Lys |
M0072581 |
GHPEIEGG_00004 |
5289 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
723C>T |
Asp241Asp |
M0072582 |
GHPEIEGG_00004 |
5334 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
768G>A |
Gly256Gly |
M0072583 |
GHPEIEGG_00004 |
5364 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
798T>A |
Ile266Ile |
M0072584 |
GHPEIEGG_00004 |
5388 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
822T>C |
Thr274Thr |
M0072585 |
GHPEIEGG_00004 |
5439 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
873C>A |
Ala291Ala |
M0072586 |
GHPEIEGG_00004 |
5481 |
5 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
915G>T |
Lys305Asn |
M0072587 |
GHPEIEGG_00004 |
5499 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
933T>C |
Gly311Gly |
M0072588 |
GHPEIEGG_00004 |
5703 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1137C>T |
Asn379Asn |
M0072589 |
GHPEIEGG_00004 |
5766 |
5 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1200C>T |
Gly400Gly |
M0072590 |
GHPEIEGG_00005 |
5784 |
5 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
11A>C |
Tyr4Ser |
M0072591 |
GHPEIEGG_00004 |
5789 |
5 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1223G>A |
Ser408Asn |
M0072592 |
GHPEIEGG_00005 |
5793 |
5 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
20A>G |
Lys7Arg |
M0072593 |
GHPEIEGG_00005 |
5831 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
58T>C |
Leu20Leu |
M0072594 |
GHPEIEGG_00005 |
5914 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
141A>G |
Thr47Thr |
M0072595 |
GHPEIEGG_00005 |
6041 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
268A>C |
Ile90Leu |
M0072596 |
GHPEIEGG_00005 |
6118 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
345T>C |
Ser115Ser |
M0072597 |
GHPEIEGG_00005 |
6121 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
348T>A |
Ser116Ser |
M0072598 |
GHPEIEGG_00005 |
6140 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
367G>A |
Asp123Asn |
M0072599 |
GHPEIEGG_00005 |
6153 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
380G>A |
Arg127Lys |
M0072600 |
GHPEIEGG_00005 |
6173 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
400A>G |
Asn134Asp |
M0072601 |
GHPEIEGG_00005 |
6176 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
403G>A |
Ala135Thr |
M0072602 |
GHPEIEGG_00005 |
6190 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
417C>A |
Ile139Ile |
M0072603 |
GHPEIEGG_00005 |
6203 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
430G>A |
Val144Ile |
M0072604 |
GHPEIEGG_00005 |
6258 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
485T>C |
Ile162Thr |
M0072605 |
GHPEIEGG_00005 |
6268 |
4 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
495A>T |
Lys165Asn |
M0072606 |
GHPEIEGG_00005 |
6283 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
510C>T |
Ile170Ile |
M0072607 |
GHPEIEGG_00005 |
6298 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
525A>G |
Glu175Glu |
M0072608 |
GHPEIEGG_00005 |
6334 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
561G>A |
Gln187Gln |
M0072609 |
GHPEIEGG_00005 |
6442 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
669T>C |
Thr223Thr |
M0072610 |
GHPEIEGG_00005 |
6447 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
674A>C |
Lys225Thr |
M0072611 |
GHPEIEGG_00005 |
6451 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
678T>G |
Asn226Lys |
M0072612 |
GHPEIEGG_00005 |
6958 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1185A>G |
Leu395Leu |
M0072613 |
GHPEIEGG_00005 |
7424 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1651A>G |
Thr551Ala |
M0072614 |
GHPEIEGG_00005 |
7430 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1657A>G |
Ser553Gly |
M0072615 |
GHPEIEGG_00005 |
7468 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1695C>T |
Phe565Phe |
M0072616 |
GHPEIEGG_00005 |
7487 |
3 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1714A>C |
Thr572Pro |
M0072617 |
GHPEIEGG_00002 |
7505 |
3 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4109T>C |
None |
M0072618 |
GHPEIEGG_00002 |
7525 |
3 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4129G>A |
None |
M0072619 |
GHPEIEGG_00002 |
7530 |
3 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4134T>C |
None |
M0072620 |
GHPEIEGG_00002 |
7539 |
3 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4143A>G |
None |
M0072621 |
GHPEIEGG_00006 |
7641 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
690G>A |
Leu230Leu |
M0072622 |
GHPEIEGG_00006 |
7665 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
666A>C |
Pro222Pro |
M0072623 |
GHPEIEGG_00006 |
8058 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
273G>A |
Leu91Leu |
M0072624 |
GHPEIEGG_00004 |
4686 |
4 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
120G>A |
Ser40Ser |
M0072625 |
GHPEIEGG_00002 |
3469 |
3 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-73G>A |
None |
M0072626 |
GHPEIEGG_00017 |
24174 |
4 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3335C>T |
None |
M0072627 |
GHPEIEGG_00023 |
26527 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
978C>T |
Ile326Ile |
M0072628 |
GHPEIEGG_00025 |
28852 |
3 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
309C>T |
Leu103Leu |
Analysis of virulence factors contributing to bacterial pathogenicity
This table presents virulence factors identified within the plasmid cluster.
Note: Virulence factor analysis was performed using VFDB. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known virulence factors are listed.
Gene Name |
vf_gene_id |
vf_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
vf_category |
gene_description |
condition |
Analysis of biocide and heavy metal resistance genes to assess antimicrobial risk and environmental impact
This table presents biocides and heavy metals resistance genes identified within the plasmid cluster.
Note: Analyzing biocide and heavy metal resistance genes based on BacMet to evaluate bacterial resistance risk and the potential impact of environmental heavy metal contamination. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, E-value < 1e-5) to known biocide and heavy metal resistance genes are listed.
Gene Name |
compound |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
group |
Analyzing antimicrobial resistance genes to assess bacterial resistance to antibiotics and other antimicrobial agents
This table presents antimicrobial resistance genes identified within the plasmid cluster.
Note: Antimicrobial resistance was performed using CARD. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known antimicrobial resistance genes are listed.
Gene Name |
aro_accession |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
drug_class |
amr_gene_family |
resistance_mechanism |
Analysis of pathogenicity genes to explore pathogen-host interactions
This table presents host pathogen-host interactions within the plasmid cluster.
Note: Analyzing pathogenicity-related genes using PHI-base to understand pathogen virulence mechanisms and their impact on host interactions. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e-5) to known pathogenicity-related genes are listed.
Gene Name |
phi_molconn_id |
host gene_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
host_descripton |
disease_name |
function |
phenotype_of_mutant |
GHPEIEGG_00012 |
PHI:6190 |
Mqo |
74.6 |
1.6e-221 |
1 |
492 |
1.0000 |
1.0000 |
rodents |
skin infection; food poisoning; respiratory disease |
malate-quinone oxidoreductases |
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 |
GHPEIEGG_00011 |
QKH82067.1|GT4 |
100 |
3.84e-277 |
1 |
381 |
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 |
GHPEIEGG_00020 |
2.A.1.2.100 |
70.9 |
1.8e-151 |
8 |
401 |
0.9825 |
0.9826 |
2 |
Electrochemical Potential-driven Transporters |
2.A |
Porters (uniporters, symporters, antiporters) |
2.A.1 |
The Major Facilitator Superfamily (MFS) |