Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C3078 |
Reference Plasmid |
MET0024_bin.7__k81_1894 |
Reference Plasmid Size |
25884 |
Reference Plasmid GC Content |
0.31 |
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 |
M0071173 |
DMHMBMNK_00006 |
5181 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
528G>A |
Ser176Ser |
M0071174 |
DMHMBMNK_00006 |
5184 |
9 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
531C>A |
Ile177Ile |
M0071175 |
DMHMBMNK_00006 |
5245 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
592G>A |
Asp198Asn |
M0071176 |
DMHMBMNK_00006 |
5254 |
9 |
Skin |
0.30 |
protein_coding |
missense_variant |
MODERATE |
601A>G |
Ser201Gly |
M0071177 |
DMHMBMNK_00006 |
5269 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
616G>T |
Val206Phe |
M0071178 |
DMHMBMNK_00006 |
5331 |
9 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
678C>T |
Ala226Ala |
M0071179 |
DMHMBMNK_00006 |
5367 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
714A>G |
Ser238Ser |
M0071180 |
DMHMBMNK_00006 |
5406 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
753C>T |
Val251Val |
M0071181 |
DMHMBMNK_00006 |
5523 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
870C>T |
Leu290Leu |
M0071182 |
DMHMBMNK_00006 |
5532 |
9 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
879C>A |
Val293Val |
M0071183 |
DMHMBMNK_00006 |
5553 |
9 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
900C>T |
His300His |
M0071184 |
DMHMBMNK_00006 |
5580 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
927A>T |
Gly309Gly |
M0071185 |
DMHMBMNK_00006 |
5592 |
9 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
939T>C |
Ile313Ile |
M0071186 |
DMHMBMNK_00006 |
5631 |
9 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
978C>T |
Gly326Gly |
M0071187 |
DMHMBMNK_00006 |
5737 |
9 |
Skin |
0.30 |
protein_coding |
missense_variant |
MODERATE |
1084G>T |
Val362Phe |
M0071188 |
DMHMBMNK_00006 |
5884 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1231T>C |
Leu411Leu |
M0071189 |
DMHMBMNK_00002 |
6155 |
5 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4982G>T |
None |
M0071190 |
DMHMBMNK_00007 |
6706 |
14 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
396T>C |
Gly132Gly |
M0071191 |
DMHMBMNK_00007 |
6806 |
14 |
Skin |
0.47 |
protein_coding |
missense_variant |
MODERATE |
496A>C |
Ile166Leu |
M0071192 |
DMHMBMNK_00007 |
6898 |
14 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
588A>G |
Ala196Ala |
M0071193 |
DMHMBMNK_00007 |
6930 |
14 |
Skin |
0.47 |
protein_coding |
missense_variant |
MODERATE |
620T>C |
Ile207Thr |
M0071194 |
DMHMBMNK_00007 |
7027 |
14 |
Skin |
0.47 |
protein_coding |
missense_variant |
MODERATE |
717G>T |
Glu239Asp |
M0071195 |
DMHMBMNK_00007 |
7046 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
736A>G |
Ile246Val |
M0071196 |
DMHMBMNK_00007 |
7204 |
11 |
Skin |
0.37 |
protein_coding |
synonymous_variant |
LOW |
894T>C |
Asn298Asn |
M0071197 |
DMHMBMNK_00008 |
7635 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
292A>G |
Thr98Ala |
M0071198 |
DMHMBMNK_00008 |
7652 |
13 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
309G>A |
Thr103Thr |
M0071199 |
DMHMBMNK_00008 |
7766 |
13 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
423C>T |
Gly141Gly |
M0071200 |
DMHMBMNK_00009 |
8012 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
705G>T |
Thr235Thr |
M0071201 |
DMHMBMNK_00009 |
8090 |
13 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
627G>C |
Val209Val |
M0071202 |
DMHMBMNK_00009 |
8126 |
13 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
591C>T |
Pro197Pro |
M0071203 |
DMHMBMNK_00009 |
8135 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
582C>T |
Ile194Ile |
M0071204 |
DMHMBMNK_00009 |
8195 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
522T>C |
Asp174Asp |
M0071205 |
DMHMBMNK_00009 |
8318 |
13 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
399T>C |
Gly133Gly |
M0071206 |
DMHMBMNK_00009 |
8429 |
13 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
288T>C |
Ile96Ile |
M0071207 |
DMHMBMNK_00009 |
8455 |
13 |
Skin |
0.43 |
protein_coding |
missense_variant |
MODERATE |
262A>G |
Ile88Val |
M0071208 |
DMHMBMNK_00009 |
8456 |
13 |
Skin |
0.43 |
protein_coding |
missense_variant |
MODERATE |
261G>T |
Glu87Asp |
M0071209 |
DMHMBMNK_00009 |
8666 |
13 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
51C>T |
Gly17Gly |
M0071210 |
DMHMBMNK_00006 |
5787 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1134T>C |
Leu378Leu |
M0071211 |
DMHMBMNK_00006 |
5799 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1146C>A |
Ala382Ala |
M0071212 |
DMHMBMNK_00006 |
5850 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1197T>G |
Gly399Gly |
M0071213 |
DMHMBMNK_00006 |
5961 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1308T>A |
Gly436Gly |
M0071214 |
DMHMBMNK_00006 |
5967 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1314A>G |
Leu438Leu |
M0071215 |
DMHMBMNK_00006 |
5997 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1344T>C |
Val448Val |
M0071216 |
DMHMBMNK_00006 |
6035 |
7 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
1382A>G |
Asn461Ser |
M0071217 |
DMHMBMNK_00006 |
6040 |
7 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
1387G>A |
Ala463Thr |
M0071218 |
DMHMBMNK_00002 |
6070 |
7 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4897T>G |
None |
M0071219 |
DMHMBMNK_00002 |
6074 |
7 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4901T>G |
None |
M0071220 |
DMHMBMNK_00002 |
6075 |
7 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4902T>G |
None |
M0071221 |
DMHMBMNK_00002 |
6095 |
7 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4922T>G |
None |
M0071222 |
DMHMBMNK_00002 |
6102 |
7 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4929T>C |
None |
M0071223 |
DMHMBMNK_00002 |
6165 |
7 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4992C>T |
None |
M0071224 |
DMHMBMNK_00002 |
6167 |
7 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4994C>A |
None |
M0071225 |
DMHMBMNK_00003 |
6205 |
7 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4577T>A |
None |
M0071226 |
DMHMBMNK_00003 |
6214 |
7 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4586T>A |
None |
M0071227 |
DMHMBMNK_00003 |
6308 |
8 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4680T>C |
None |
M0071228 |
DMHMBMNK_00007 |
6388 |
8 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
78G>T |
Val26Val |
M0071229 |
DMHMBMNK_00007 |
6478 |
10 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
168T>C |
Asn56Asn |
M0071230 |
DMHMBMNK_00007 |
6500 |
10 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
190A>G |
Lys64Glu |
M0071231 |
DMHMBMNK_00007 |
6569 |
10 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
259C>T |
Leu87Leu |
M0071232 |
DMHMBMNK_00007 |
6613 |
9 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
303T>G |
Val101Val |
M0071233 |
DMHMBMNK_00007 |
6629 |
9 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
319C>T |
Leu107Leu |
M0071234 |
DMHMBMNK_00007 |
6643 |
9 |
Skin |
0.30 |
protein_coding |
missense_variant |
MODERATE |
333A>C |
Glu111Asp |
M0071235 |
DMHMBMNK_00007 |
6694 |
8 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
384G>A |
Thr128Thr |
M0071236 |
DMHMBMNK_00007 |
6820 |
9 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
510G>A |
Ala170Ala |
M0071237 |
DMHMBMNK_00007 |
6823 |
9 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
513G>A |
Lys171Lys |
M0071238 |
DMHMBMNK_00007 |
6826 |
9 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
516C>T |
Leu172Leu |
M0071239 |
DMHMBMNK_00007 |
6886 |
8 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
576G>T |
Gly192Gly |
M0071240 |
DMHMBMNK_00007 |
6907 |
9 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
597A>C |
Thr199Thr |
M0071241 |
DMHMBMNK_00007 |
6949 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
639T>C |
Tyr213Tyr |
M0071242 |
DMHMBMNK_00007 |
7008 |
9 |
Skin |
0.30 |
protein_coding |
missense_variant |
MODERATE |
698G>A |
Gly233Asp |
M0071243 |
DMHMBMNK_00004 |
7249 |
11 |
Skin |
0.37 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4615T>C |
None |
M0071244 |
DMHMBMNK_00008 |
7400 |
8 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
57T>C |
Ser19Ser |
M0071245 |
DMHMBMNK_00008 |
7445 |
8 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
102G>A |
Thr34Thr |
M0071246 |
DMHMBMNK_00008 |
7565 |
8 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
222T>C |
Gly74Gly |
M0071247 |
DMHMBMNK_00008 |
7598 |
8 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
255G>C |
Met85Ile |
M0071248 |
DMHMBMNK_00008 |
7649 |
8 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
306T>C |
Gly102Gly |
M0071249 |
DMHMBMNK_00008 |
7697 |
8 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
354G>A |
Leu118Leu |
M0071250 |
DMHMBMNK_00005 |
7831 |
10 |
Skin |
0.33 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3442G>T |
None |
M0071251 |
DMHMBMNK_00005 |
7838 |
10 |
Skin |
0.33 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3449A>C |
None |
M0071252 |
DMHMBMNK_00005 |
7843 |
8 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3454T>A |
None |
M0071253 |
DMHMBMNK_00005 |
7847 |
8 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3458C>A |
None |
M0071254 |
DMHMBMNK_00005 |
7867 |
8 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3478C>T |
None |
M0071255 |
DMHMBMNK_00009 |
7890 |
8 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
827G>A |
Ser276Asn |
M0071256 |
DMHMBMNK_00009 |
7891 |
8 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
826A>G |
Ser276Gly |
M0071257 |
DMHMBMNK_00009 |
7923 |
8 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
794C>T |
Thr265Ile |
M0071258 |
DMHMBMNK_00009 |
7964 |
8 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
753G>C |
Val251Val |
M0071259 |
DMHMBMNK_00009 |
7979 |
9 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
738C>T |
Ser246Ser |
M0071260 |
DMHMBMNK_00009 |
8035 |
8 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
682G>T |
Val228Leu |
M0071261 |
DMHMBMNK_00009 |
8084 |
8 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
633C>T |
Ser211Ser |
M0071262 |
DMHMBMNK_00009 |
8192 |
9 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
525A>C |
Ile175Ile |
M0071263 |
DMHMBMNK_00009 |
8278 |
11 |
Skin |
0.37 |
protein_coding |
synonymous_variant |
LOW |
439C>T |
Leu147Leu |
M0071264 |
DMHMBMNK_00009 |
8567 |
8 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
150T>C |
Asn50Asn |
M0071265 |
DMHMBMNK_00009 |
8575 |
8 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
142A>G |
Thr48Ala |
M0071266 |
DMHMBMNK_00009 |
8587 |
8 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
130T>G |
Phe44Val |
M0071267 |
DMHMBMNK_00009 |
8591 |
8 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
126T>C |
Leu42Leu |
M0071268 |
DMHMBMNK_00009 |
8598 |
8 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
119C>A |
Ala40Asp |
M0071269 |
DMHMBMNK_00009 |
8630 |
8 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
87A>G |
Leu29Leu |
M0071270 |
DMHMBMNK_00009 |
8643 |
8 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
74A>C |
Glu25Ala |
M0071271 |
DMHMBMNK_00009 |
8686 |
8 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
31G>T |
Ala11Ser |
M0071272 |
DMHMBMNK_00005 |
8796 |
7 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4407T>G |
None |
M0071273 |
DMHMBMNK_00005 |
8805 |
11 |
Skin |
0.37 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4416C>A |
None |
M0071274 |
DMHMBMNK_00010 |
8814 |
7 |
Skin |
0.23 |
protein_coding |
splice_region_variant&stop_retained_variant |
LOW |
1494A>G |
Ter498Ter |
M0071275 |
DMHMBMNK_00010 |
8833 |
7 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
1475G>T |
Arg492Leu |
M0071276 |
DMHMBMNK_00010 |
8839 |
6 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
1469T>C |
Ile490Thr |
M0071277 |
DMHMBMNK_00010 |
8844 |
7 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
1464C>A |
Asn488Lys |
M0071278 |
DMHMBMNK_00010 |
8847 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1461A>T |
Leu487Leu |
M0071279 |
DMHMBMNK_00010 |
8886 |
11 |
Skin |
0.37 |
protein_coding |
synonymous_variant |
LOW |
1422T>C |
Phe474Phe |
M0071280 |
DMHMBMNK_00010 |
8907 |
10 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
1401A>G |
Ala467Ala |
M0071281 |
DMHMBMNK_00010 |
8965 |
7 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
1343C>T |
Thr448Ile |
M0071282 |
DMHMBMNK_00010 |
8979 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1329C>T |
Leu443Leu |
M0071283 |
DMHMBMNK_00010 |
8982 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1326T>A |
Ile442Ile |
M0071284 |
DMHMBMNK_00010 |
9000 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1308T>C |
Phe436Phe |
M0071285 |
DMHMBMNK_00010 |
9041 |
8 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
1267C>G |
Arg423Gly |
M0071286 |
DMHMBMNK_00010 |
9059 |
8 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
1249C>T |
His417Tyr |
M0071287 |
DMHMBMNK_00010 |
9084 |
8 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1224T>C |
Arg408Arg |
M0071288 |
DMHMBMNK_00010 |
9120 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1188A>G |
Leu396Leu |
M0071289 |
DMHMBMNK_00010 |
9123 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1185G>A |
Leu395Leu |
M0071290 |
DMHMBMNK_00010 |
9149 |
7 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
1159C>G |
Leu387Val |
M0071291 |
DMHMBMNK_00010 |
9252 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1056C>T |
Ser352Ser |
M0071292 |
DMHMBMNK_00010 |
9264 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1044C>T |
Val348Val |
M0071293 |
DMHMBMNK_00010 |
9279 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1029T>C |
Asp343Asp |
M0071294 |
DMHMBMNK_00010 |
9288 |
8 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1020A>C |
Pro340Pro |
M0071295 |
DMHMBMNK_00010 |
9380 |
7 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
928A>G |
Thr310Ala |
M0071296 |
DMHMBMNK_00010 |
9421 |
5 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
887A>G |
Lys296Arg |
M0071297 |
DMHMBMNK_00010 |
9426 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
882A>G |
Gln294Gln |
M0071298 |
DMHMBMNK_00010 |
9432 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
876A>G |
Thr292Thr |
M0071299 |
DMHMBMNK_00010 |
9456 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
852G>A |
Lys284Lys |
M0071300 |
DMHMBMNK_00010 |
9522 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
786C>T |
Ala262Ala |
M0071301 |
DMHMBMNK_00010 |
9582 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
726C>A |
Ile242Ile |
M0071302 |
DMHMBMNK_00010 |
9600 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
708T>C |
Asp236Asp |
M0071303 |
DMHMBMNK_00010 |
9627 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
681G>A |
Lys227Lys |
M0071304 |
DMHMBMNK_00010 |
9633 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
675T>A |
Thr225Thr |
M0071305 |
DMHMBMNK_00010 |
9642 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
666A>G |
Thr222Thr |
M0071306 |
DMHMBMNK_00010 |
9673 |
7 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
635A>G |
Asn212Ser |
M0071307 |
DMHMBMNK_00010 |
9678 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
630C>T |
Tyr210Tyr |
M0071308 |
DMHMBMNK_00010 |
9682 |
7 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
626C>A |
Thr209Asn |
M0071309 |
DMHMBMNK_00010 |
9699 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
609A>T |
Ser203Ser |
M0071310 |
DMHMBMNK_00016 |
17847 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
21A>T |
Ser7Ser |
M0071311 |
DMHMBMNK_00013 |
17885 |
6 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3329A>T |
None |
M0071312 |
DMHMBMNK_00013 |
17888 |
6 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3332C>T |
None |
M0071313 |
DMHMBMNK_00013 |
19144 |
4 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4588A>C |
None |
M0071314 |
DMHMBMNK_00013 |
19220 |
4 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4664C>T |
None |
M0071315 |
DMHMBMNK_00013 |
19277 |
4 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4721T>C |
None |
M0071316 |
DMHMBMNK_00013 |
19296 |
4 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4740A>G |
None |
M0071317 |
DMHMBMNK_00018 |
19375 |
7 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
1120C>A |
Leu374Ile |
M0071318 |
DMHMBMNK_00018 |
19426 |
8 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1069C>T |
Leu357Leu |
M0071319 |
DMHMBMNK_00018 |
19445 |
8 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1050C>T |
Phe350Phe |
M0071320 |
DMHMBMNK_00018 |
19448 |
8 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1047A>G |
Leu349Leu |
M0071321 |
DMHMBMNK_00018 |
19568 |
8 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
927C>T |
Leu309Leu |
M0071322 |
DMHMBMNK_00018 |
19606 |
8 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
889G>A |
Val297Ile |
M0071323 |
DMHMBMNK_00018 |
19658 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
837T>C |
Arg279Arg |
M0071324 |
DMHMBMNK_00018 |
19751 |
9 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
744G>A |
Thr248Thr |
M0071325 |
DMHMBMNK_00018 |
19829 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
666A>G |
Leu222Leu |
M0071326 |
DMHMBMNK_00018 |
19851 |
7 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
644G>A |
Arg215Lys |
M0071327 |
DMHMBMNK_00018 |
19865 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
630G>A |
Leu210Leu |
M0071328 |
DMHMBMNK_00018 |
19871 |
12 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
624G>A |
Gly208Gly |
M0071329 |
DMHMBMNK_00018 |
19907 |
13 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
588C>T |
Val196Val |
M0071330 |
DMHMBMNK_00018 |
19912 |
13 |
Skin |
0.43 |
protein_coding |
missense_variant |
MODERATE |
583G>C |
Asp195His |
M0071331 |
DMHMBMNK_00018 |
19917 |
6 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
578C>T |
Ser193Phe |
M0071332 |
DMHMBMNK_00018 |
19919 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
576T>C |
His192His |
M0071333 |
DMHMBMNK_00018 |
19954 |
7 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
541T>G |
Cys181Gly |
M0071334 |
DMHMBMNK_00018 |
19961 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
534C>T |
Ile178Ile |
M0071335 |
DMHMBMNK_00018 |
19964 |
7 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
531A>G |
Ile177Met |
M0071336 |
DMHMBMNK_00018 |
19967 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
528C>T |
Ser176Ser |
M0071337 |
DMHMBMNK_00018 |
20036 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
459A>G |
Pro153Pro |
M0071338 |
DMHMBMNK_00018 |
20051 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
444A>G |
Val148Val |
M0071339 |
DMHMBMNK_00018 |
20218 |
9 |
Skin |
0.30 |
protein_coding |
missense_variant |
MODERATE |
277G>A |
Gly93Ser |
M0071340 |
DMHMBMNK_00018 |
20249 |
12 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
246G>A |
Met82Ile |
M0071341 |
DMHMBMNK_00018 |
20262 |
7 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
233A>G |
Lys78Arg |
M0071342 |
DMHMBMNK_00018 |
20273 |
7 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
222C>G |
Phe74Leu |
M0071343 |
DMHMBMNK_00018 |
20299 |
6 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
196A>G |
Ile66Val |
M0071344 |
DMHMBMNK_00018 |
20318 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
177C>T |
Gly59Gly |
M0071345 |
DMHMBMNK_00018 |
20342 |
12 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
153C>T |
Leu51Leu |
M0071346 |
DMHMBMNK_00018 |
20357 |
12 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
138A>G |
Thr46Thr |
M0071347 |
DMHMBMNK_00018 |
20383 |
7 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
112G>A |
Val38Ile |
M0071348 |
DMHMBMNK_00018 |
20396 |
13 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
99G>T |
Pro33Pro |
M0071349 |
DMHMBMNK_00018 |
20453 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
42C>T |
Leu14Leu |
M0071350 |
DMHMBMNK_00014 |
20563 |
13 |
Skin |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4478C>A |
None |
M0071351 |
DMHMBMNK_00014 |
20589 |
13 |
Skin |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4504T>A |
None |
M0071352 |
DMHMBMNK_00014 |
20597 |
7 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4512G>A |
None |
M0071353 |
DMHMBMNK_00014 |
20615 |
13 |
Skin |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4530C>A |
None |
M0071354 |
DMHMBMNK_00014 |
20616 |
7 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4531C>T |
None |
M0071355 |
DMHMBMNK_00014 |
20618 |
13 |
Skin |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4533A>G |
None |
M0071356 |
DMHMBMNK_00019 |
20729 |
13 |
Skin |
0.43 |
protein_coding |
missense_variant |
MODERATE |
629G>A |
Ser210Asn |
M0071357 |
DMHMBMNK_00019 |
20797 |
13 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
561G>A |
Leu187Leu |
M0071358 |
DMHMBMNK_00019 |
20821 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
537G>A |
Glu179Glu |
M0071359 |
DMHMBMNK_00019 |
20869 |
13 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
489G>A |
Ser163Ser |
M0071360 |
DMHMBMNK_00019 |
20881 |
13 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
477T>A |
Ile159Ile |
M0071361 |
DMHMBMNK_00019 |
20992 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
366G>T |
Thr122Thr |
M0071362 |
DMHMBMNK_00019 |
21007 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
351C>A |
Asp117Glu |
M0071363 |
DMHMBMNK_00019 |
21109 |
14 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
249C>T |
Asn83Asn |
M0071364 |
DMHMBMNK_00019 |
21130 |
9 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
228A>T |
Leu76Leu |
M0071365 |
DMHMBMNK_00019 |
21192 |
14 |
Skin |
0.47 |
protein_coding |
missense_variant |
MODERATE |
166A>G |
Asn56Asp |
M0071366 |
DMHMBMNK_00019 |
21194 |
14 |
Skin |
0.47 |
protein_coding |
missense_variant |
MODERATE |
164A>G |
Asp55Gly |
M0071367 |
DMHMBMNK_00019 |
21196 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
162G>A |
Gln54Gln |
M0071368 |
DMHMBMNK_00019 |
21217 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
141A>T |
Gln47His |
M0071369 |
DMHMBMNK_00019 |
21223 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
135T>G |
Pro45Pro |
M0071370 |
DMHMBMNK_00019 |
21251 |
5 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
107G>A |
Ser36Asn |
M0071371 |
DMHMBMNK_00019 |
21279 |
5 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
79T>C |
Tyr27His |
M0071372 |
DMHMBMNK_00019 |
21313 |
13 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
45C>T |
Asp15Asp |
M0071373 |
DMHMBMNK_00019 |
21331 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
27T>C |
Asp9Asp |
M0071374 |
DMHMBMNK_00020 |
21378 |
9 |
Skin |
0.30 |
protein_coding |
missense_variant |
MODERATE |
1126A>G |
Asn376Asp |
M0071375 |
DMHMBMNK_00020 |
21385 |
13 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
1119A>G |
Lys373Lys |
M0071376 |
DMHMBMNK_00020 |
21438 |
6 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
1066A>C |
Asn356His |
M0071377 |
DMHMBMNK_00020 |
21440 |
6 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
1064A>C |
Glu355Ala |
M0071378 |
DMHMBMNK_00020 |
21454 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1050C>A |
Leu350Leu |
M0071379 |
DMHMBMNK_00020 |
21463 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1041A>C |
Pro347Pro |
M0071380 |
DMHMBMNK_00020 |
21529 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
975A>G |
Leu325Leu |
M0071381 |
DMHMBMNK_00020 |
21538 |
12 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
966T>C |
Cys322Cys |
M0071382 |
DMHMBMNK_00020 |
21544 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
960T>G |
Gly320Gly |
M0071383 |
DMHMBMNK_00020 |
21545 |
6 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
959G>C |
Gly320Ala |
M0071384 |
DMHMBMNK_00020 |
21550 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
954T>G |
Val318Val |
M0071385 |
DMHMBMNK_00020 |
21573 |
6 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
931G>T |
Ala311Ser |
M0071386 |
DMHMBMNK_00020 |
21589 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
915C>T |
Ile305Ile |
M0071387 |
DMHMBMNK_00020 |
21610 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
894G>A |
Thr298Thr |
M0071388 |
DMHMBMNK_00020 |
21669 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
835C>G |
Gln279Glu |
M0071389 |
DMHMBMNK_00020 |
21676 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
828A>G |
Gln276Gln |
M0071390 |
DMHMBMNK_00020 |
21742 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
762T>C |
Ala254Ala |
M0071391 |
DMHMBMNK_00020 |
21745 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
759A>C |
Gly253Gly |
M0071392 |
DMHMBMNK_00020 |
21772 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
732T>C |
Pro244Pro |
M0071393 |
DMHMBMNK_00020 |
21871 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
633G>A |
Lys211Lys |
M0071394 |
DMHMBMNK_00020 |
21883 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
621C>T |
Tyr207Tyr |
M0071395 |
DMHMBMNK_00020 |
21895 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
609A>C |
Ala203Ala |
M0071396 |
DMHMBMNK_00020 |
21906 |
5 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
598T>C |
Ser200Pro |
M0071397 |
DMHMBMNK_00020 |
21907 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
597T>C |
Gly199Gly |
M0071398 |
DMHMBMNK_00020 |
21991 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
513T>C |
Thr171Thr |
M0071399 |
DMHMBMNK_00020 |
21994 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
510A>G |
Leu170Leu |
M0071400 |
DMHMBMNK_00020 |
22009 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
495C>T |
Gly165Gly |
M0071401 |
DMHMBMNK_00020 |
22051 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
453A>G |
Lys151Lys |
M0071402 |
DMHMBMNK_00020 |
22102 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
402G>A |
Gly134Gly |
M0071403 |
DMHMBMNK_00020 |
22105 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
399G>A |
Gly133Gly |
M0071404 |
DMHMBMNK_00020 |
22134 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
370A>C |
Asn124His |
M0071405 |
DMHMBMNK_00020 |
22147 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
357T>C |
Asp119Asp |
M0071406 |
DMHMBMNK_00020 |
22168 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
336C>T |
Gly112Gly |
M0071407 |
DMHMBMNK_00020 |
22180 |
11 |
Skin |
0.37 |
protein_coding |
synonymous_variant |
LOW |
324G>T |
Thr108Thr |
M0071408 |
DMHMBMNK_00020 |
22252 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
252G>A |
Val84Val |
M0071409 |
DMHMBMNK_00020 |
22267 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
237G>T |
Ser79Ser |
M0071410 |
DMHMBMNK_00020 |
22300 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
204T>A |
Leu68Leu |
M0071411 |
DMHMBMNK_00020 |
22332 |
5 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
172A>T |
Thr58Ser |
M0071412 |
DMHMBMNK_00020 |
22354 |
11 |
Skin |
0.37 |
protein_coding |
synonymous_variant |
LOW |
150G>T |
Ala50Ala |
M0071413 |
DMHMBMNK_00020 |
22410 |
5 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
94G>T |
Ala32Ser |
M0071414 |
DMHMBMNK_00020 |
22436 |
5 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
68A>G |
Gln23Arg |
M0071415 |
DMHMBMNK_00020 |
22467 |
5 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
37T>A |
Ser13Thr |
M0071416 |
DMHMBMNK_00020 |
22501 |
5 |
Skin |
0.17 |
protein_coding |
start_lost |
HIGH |
3G>T |
Met1? |
M0071417 |
DMHMBMNK_00016 |
22507 |
4 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4640C>A |
None |
M0071418 |
DMHMBMNK_00016 |
22553 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4686T>A |
None |
M0071419 |
DMHMBMNK_00016 |
22621 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4754A>G |
None |
M0071420 |
DMHMBMNK_00016 |
22638 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4771C>A |
None |
M0071421 |
DMHMBMNK_00021 |
23080 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
412A>C |
Asn138His |
M0071422 |
DMHMBMNK_00021 |
23085 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
417G>T |
Leu139Phe |
M0071423 |
DMHMBMNK_00021 |
23096 |
5 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
428C>G |
Thr143Ser |
M0071424 |
DMHMBMNK_00021 |
23307 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
639A>C |
Ile213Ile |
M0071425 |
DMHMBMNK_00021 |
23451 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
783T>C |
Ile261Ile |
M0071426 |
DMHMBMNK_00021 |
23613 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
945T>G |
Thr315Thr |
M0071427 |
DMHMBMNK_00021 |
23647 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
979T>C |
Leu327Leu |
M0071428 |
DMHMBMNK_00021 |
23652 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
984T>C |
Cys328Cys |
M0071429 |
DMHMBMNK_00021 |
24039 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1371T>C |
Phe457Phe |
M0071430 |
DMHMBMNK_00022 |
24171 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
4G>A |
Glu2Lys |
M0071431 |
DMHMBMNK_00022 |
24212 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
45A>C |
Ile15Ile |
M0071432 |
DMHMBMNK_00022 |
24309 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
142G>A |
Val48Ile |
M0071433 |
DMHMBMNK_00018 |
24550 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4056C>T |
None |
M0071434 |
DMHMBMNK_00018 |
24613 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4119C>T |
None |
M0071435 |
DMHMBMNK_00023 |
24738 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
11A>G |
Asn4Ser |
M0071436 |
DMHMBMNK_00023 |
24823 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
96A>G |
Gly32Gly |
M0071437 |
DMHMBMNK_00023 |
24838 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
111G>A |
Ser37Ser |
M0071438 |
DMHMBMNK_00001 |
84 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-13T>C |
None |
M0071439 |
DMHMBMNK_00001 |
159 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
63A>C |
Ile21Ile |
M0071440 |
DMHMBMNK_00001 |
300 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
204A>G |
Ala68Ala |
M0071441 |
DMHMBMNK_00001 |
309 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
213C>T |
Ile71Ile |
M0071442 |
DMHMBMNK_00001 |
321 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
225T>G |
Ala75Ala |
M0071443 |
DMHMBMNK_00006 |
410 |
4 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4244A>T |
None |
M0071444 |
DMHMBMNK_00002 |
529 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
645G>A |
Val215Val |
M0071445 |
DMHMBMNK_00002 |
658 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
516G>A |
Val172Val |
M0071446 |
DMHMBMNK_00002 |
670 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
504C>T |
Gly168Gly |
M0071447 |
DMHMBMNK_00002 |
793 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
381A>G |
Ala127Ala |
M0071448 |
DMHMBMNK_00002 |
823 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
351T>A |
Thr117Thr |
M0071449 |
DMHMBMNK_00002 |
961 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
213T>C |
Phe71Phe |
M0071450 |
DMHMBMNK_00002 |
1000 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
174C>T |
Tyr58Tyr |
M0071451 |
DMHMBMNK_00002 |
1033 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
141G>A |
Gly47Gly |
M0071452 |
DMHMBMNK_00002 |
1169 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
5T>C |
Val2Ala |
M0071453 |
DMHMBMNK_00003 |
1200 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
429C>A |
Asp143Glu |
M0071454 |
DMHMBMNK_00003 |
1338 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
291A>G |
Ser97Ser |
M0071455 |
DMHMBMNK_00003 |
1353 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
276G>A |
Val92Val |
M0071456 |
DMHMBMNK_00003 |
1401 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
228A>G |
Gly76Gly |
M0071457 |
DMHMBMNK_00002 |
1742 |
4 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-569A>G |
None |
M0071458 |
DMHMBMNK_00004 |
2113 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
522T>C |
Asn174Asn |
M0071459 |
DMHMBMNK_00004 |
2149 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
486C>T |
Ile162Ile |
M0071460 |
DMHMBMNK_00004 |
2164 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
471G>A |
Glu157Glu |
M0071461 |
DMHMBMNK_00004 |
2416 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
219A>C |
Gln73His |
M0071462 |
DMHMBMNK_00005 |
3082 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1308G>A |
Glu436Glu |
M0071463 |
DMHMBMNK_00005 |
3106 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1284A>G |
Ala428Ala |
M0071464 |
DMHMBMNK_00005 |
3268 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1122G>A |
Leu374Leu |
M0071465 |
DMHMBMNK_00005 |
3673 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
717C>T |
Asn239Asn |
M0071466 |
DMHMBMNK_00005 |
3928 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
462G>T |
Gly154Gly |
M0071467 |
DMHMBMNK_00005 |
3994 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
396G>A |
Ala132Ala |
M0071468 |
DMHMBMNK_00005 |
4063 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
327T>G |
Ser109Ser |
M0071469 |
DMHMBMNK_00005 |
4084 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
306A>G |
Ala102Ala |
M0071470 |
DMHMBMNK_00005 |
4195 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
195T>C |
Gly65Gly |
M0071471 |
DMHMBMNK_00005 |
4360 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
30G>A |
Glu10Glu |
M0071472 |
DMHMBMNK_00006 |
5704 |
8 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
1051A>C |
Ile351Leu |
M0071473 |
DMHMBMNK_00006 |
4729 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
76T>C |
Leu26Leu |
M0071474 |
DMHMBMNK_00006 |
4743 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
90G>A |
Ser30Ser |
M0071475 |
DMHMBMNK_00006 |
4785 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
132C>T |
Thr44Thr |
M0071476 |
DMHMBMNK_00006 |
5085 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
432C>T |
Gly144Gly |
M0071477 |
DMHMBMNK_00006 |
5497 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
844C>T |
Leu282Leu |
M0071478 |
DMHMBMNK_00006 |
5541 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
888T>C |
Tyr296Tyr |
M0071479 |
DMHMBMNK_00006 |
5610 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
957G>T |
Val319Val |
M0071480 |
DMHMBMNK_00006 |
5673 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1020T>C |
Leu340Leu |
M0071481 |
DMHMBMNK_00006 |
5718 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1065C>A |
Leu355Leu |
M0071482 |
DMHMBMNK_00003 |
6183 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4555C>T |
None |
M0071483 |
DMHMBMNK_00010 |
9741 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
567T>C |
Asn189Asn |
M0071484 |
DMHMBMNK_00010 |
9750 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
558A>G |
Glu186Glu |
M0071485 |
DMHMBMNK_00010 |
9765 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
543T>A |
Pro181Pro |
M0071486 |
DMHMBMNK_00010 |
9837 |
6 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
471A>C |
Lys157Asn |
M0071487 |
DMHMBMNK_00010 |
9938 |
9 |
Skin |
0.30 |
protein_coding |
missense_variant |
MODERATE |
370A>G |
Ser124Gly |
M0071488 |
DMHMBMNK_00010 |
9948 |
6 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
360T>G |
His120Gln |
M0071489 |
DMHMBMNK_00010 |
9968 |
9 |
Skin |
0.30 |
protein_coding |
missense_variant |
MODERATE |
340A>C |
Ile114Leu |
M0071490 |
DMHMBMNK_00010 |
9999 |
6 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
309A>G |
Ile103Met |
M0071491 |
DMHMBMNK_00010 |
10011 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
297G>T |
Thr99Thr |
M0071492 |
DMHMBMNK_00021 |
22746 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
78C>T |
Ile26Ile |
M0071493 |
DMHMBMNK_00002 |
667 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
507C>A |
Gly169Gly |
M0071494 |
DMHMBMNK_00002 |
1695 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-522T>C |
None |
M0071495 |
DMHMBMNK_00002 |
1776 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-603A>G |
None |
M0071496 |
DMHMBMNK_00002 |
1781 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-608C>T |
None |
M0071497 |
DMHMBMNK_00002 |
1783 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-610T>C |
None |
M0071498 |
DMHMBMNK_00002 |
1790 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-617A>C |
None |
M0071499 |
DMHMBMNK_00002 |
1833 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-660A>G |
None |
M0071500 |
DMHMBMNK_00004 |
1993 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
642C>T |
Asn214Asn |
M0071501 |
DMHMBMNK_00004 |
2029 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
606G>A |
Gln202Gln |
M0071502 |
DMHMBMNK_00004 |
2062 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
573G>A |
Pro191Pro |
M0071503 |
DMHMBMNK_00004 |
2201 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
434C>A |
Thr145Asn |
M0071504 |
DMHMBMNK_00004 |
2216 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
419A>G |
Asn140Ser |
M0071505 |
DMHMBMNK_00004 |
2239 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
396C>T |
Ile132Ile |
M0071506 |
DMHMBMNK_00004 |
2248 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
387A>T |
Ser129Ser |
M0071507 |
DMHMBMNK_00004 |
2314 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
321A>G |
Arg107Arg |
M0071508 |
DMHMBMNK_00004 |
2368 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
267A>G |
Lys89Lys |
M0071509 |
DMHMBMNK_00004 |
2500 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
135C>T |
His45His |
M0071510 |
DMHMBMNK_00004 |
2509 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
126G>A |
Leu42Leu |
M0071511 |
DMHMBMNK_00004 |
2520 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
115T>C |
Leu39Leu |
M0071512 |
DMHMBMNK_00004 |
2524 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
111C>A |
Asp37Glu |
M0071513 |
DMHMBMNK_00004 |
2561 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
74A>G |
Asp25Gly |
M0071514 |
DMHMBMNK_00004 |
2562 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
73G>A |
Asp25Asn |
M0071515 |
DMHMBMNK_00005 |
2650 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1740C>A |
Ile580Ile |
M0071516 |
DMHMBMNK_00005 |
2659 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1731T>C |
Tyr577Tyr |
M0071517 |
DMHMBMNK_00005 |
2689 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1701C>T |
His567His |
M0071518 |
DMHMBMNK_00005 |
2713 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1677A>G |
Lys559Lys |
M0071519 |
DMHMBMNK_00005 |
2763 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1627C>T |
Leu543Leu |
M0071520 |
DMHMBMNK_00005 |
2859 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1531C>A |
Leu511Ile |
M0071521 |
DMHMBMNK_00005 |
2874 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1516G>A |
Glu506Lys |
M0071522 |
DMHMBMNK_00005 |
2965 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1425C>T |
Phe475Phe |
M0071523 |
DMHMBMNK_00005 |
2980 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1410A>G |
Val470Val |
M0071524 |
DMHMBMNK_00005 |
3097 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1293C>T |
Ser431Ser |
M0071525 |
DMHMBMNK_00005 |
3199 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1191C>T |
Asn397Asn |
M0071526 |
DMHMBMNK_00005 |
3289 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1101G>T |
Leu367Leu |
M0071527 |
DMHMBMNK_00005 |
3331 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1059G>A |
Arg353Arg |
M0071528 |
DMHMBMNK_00005 |
3411 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
979A>C |
Asn327His |
M0071529 |
DMHMBMNK_00005 |
3508 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
882T>C |
Arg294Arg |
M0071530 |
DMHMBMNK_00005 |
3574 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
816C>T |
Gly272Gly |
M0071531 |
DMHMBMNK_00005 |
3751 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
639G>A |
Glu213Glu |
M0071532 |
DMHMBMNK_00005 |
4036 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
354C>A |
Gly118Gly |
M0071533 |
DMHMBMNK_00005 |
4066 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
324C>T |
Ile108Ile |
M0071534 |
DMHMBMNK_00005 |
4156 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
234T>C |
Asn78Asn |
M0071535 |
DMHMBMNK_00002 |
4426 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3253A>C |
None |
M0071536 |
DMHMBMNK_00010 |
8998 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1310C>T |
Thr437Ile |
M0071537 |
DMHMBMNK_00010 |
9012 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1296G>A |
Met432Ile |
M0071538 |
DMHMBMNK_00010 |
10136 |
5 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
172A>G |
Ile58Val |
M0071539 |
DMHMBMNK_00010 |
10229 |
5 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
79C>T |
Pro27Ser |
M0071540 |
DMHMBMNK_00010 |
10286 |
8 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
22C>A |
Leu8Ile |
M0071541 |
DMHMBMNK_00010 |
10293 |
5 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
15T>G |
Phe5Leu |
M0071542 |
DMHMBMNK_00010 |
10296 |
5 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
12T>A |
Asn4Lys |
M0071543 |
DMHMBMNK_00009 |
10334 |
5 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1618G>A |
None |
M0071544 |
DMHMBMNK_00009 |
10382 |
5 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1666G>T |
None |
M0071545 |
DMHMBMNK_00009 |
10421 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1705A>T |
None |
M0071546 |
DMHMBMNK_00009 |
10426 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1710T>C |
None |
M0071547 |
DMHMBMNK_00009 |
10434 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1718T>C |
None |
M0071548 |
DMHMBMNK_00009 |
10438 |
8 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1722C>T |
None |
M0071549 |
DMHMBMNK_00009 |
10442 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1726G>A |
None |
M0071550 |
DMHMBMNK_00009 |
10444 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1728G>A |
None |
M0071551 |
DMHMBMNK_00009 |
10445 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1729A>G |
None |
M0071552 |
DMHMBMNK_00009 |
10451 |
8 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1735T>A |
None |
M0071553 |
DMHMBMNK_00009 |
10490 |
8 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1774T>A |
None |
M0071554 |
DMHMBMNK_00009 |
10501 |
5 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1785G>A |
None |
M0071555 |
DMHMBMNK_00011 |
10618 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
113A>C |
Gln38Pro |
M0071556 |
DMHMBMNK_00012 |
10705 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
126T>A |
Ala42Ala |
M0071557 |
DMHMBMNK_00012 |
10739 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
160A>G |
Met54Val |
M0071558 |
DMHMBMNK_00012 |
10747 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
168C>A |
Gly56Gly |
M0071559 |
DMHMBMNK_00012 |
10771 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
192A>G |
Leu64Leu |
M0071560 |
DMHMBMNK_00012 |
10774 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
195T>C |
Pro65Pro |
M0071561 |
DMHMBMNK_00012 |
10783 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
204T>C |
Ala68Ala |
M0071562 |
DMHMBMNK_00012 |
10954 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
375C>T |
Ser125Ser |
M0071563 |
DMHMBMNK_00012 |
10981 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
402T>C |
Val134Val |
M0071564 |
DMHMBMNK_00012 |
10987 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
408A>G |
Ala136Ala |
M0071565 |
DMHMBMNK_00012 |
10996 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
417G>A |
Gly139Gly |
M0071566 |
DMHMBMNK_00012 |
11114 |
5 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
535A>C |
Ile179Leu |
M0071567 |
DMHMBMNK_00012 |
11150 |
5 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
571C>A |
Gln191Lys |
M0071568 |
DMHMBMNK_00012 |
11161 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
582C>A |
Thr194Thr |
M0071569 |
DMHMBMNK_00012 |
11170 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
591A>T |
Thr197Thr |
M0071570 |
DMHMBMNK_00012 |
11185 |
5 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
606G>T |
Gln202His |
M0071571 |
DMHMBMNK_00012 |
11200 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
621T>C |
Thr207Thr |
M0071572 |
DMHMBMNK_00012 |
11278 |
8 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
699T>C |
Ala233Ala |
M0071573 |
DMHMBMNK_00012 |
11500 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
921C>T |
Val307Val |
M0071574 |
DMHMBMNK_00012 |
11518 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
939A>T |
Ala313Ala |
M0071575 |
DMHMBMNK_00012 |
11584 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1005A>C |
Pro335Pro |
M0071576 |
DMHMBMNK_00012 |
11614 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1035G>A |
Leu345Leu |
M0071577 |
DMHMBMNK_00012 |
11765 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1186A>G |
Ile396Val |
M0071578 |
DMHMBMNK_00012 |
11868 |
5 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1289A>G |
Asn430Ser |
M0071579 |
DMHMBMNK_00012 |
11890 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1311T>C |
Ile437Ile |
M0071580 |
DMHMBMNK_00012 |
11935 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1356T>C |
His452His |
M0071581 |
DMHMBMNK_00012 |
11992 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1413G>A |
Val471Val |
M0071582 |
DMHMBMNK_00012 |
11995 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1416C>T |
Val472Val |
M0071583 |
DMHMBMNK_00012 |
12112 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1533T>C |
Asp511Asp |
M0071584 |
DMHMBMNK_00012 |
12145 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1566T>C |
Asn522Asn |
M0071585 |
DMHMBMNK_00012 |
12249 |
5 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1670A>C |
Asp557Ala |
M0071586 |
DMHMBMNK_00013 |
12475 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
2082G>T |
Lys694Asn |
M0071587 |
DMHMBMNK_00013 |
12520 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
2037A>G |
Thr679Thr |
M0071588 |
DMHMBMNK_00013 |
12535 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
2022A>C |
Thr674Thr |
M0071589 |
DMHMBMNK_00013 |
12548 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
2009G>A |
Arg670Lys |
M0071590 |
DMHMBMNK_00013 |
12553 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
2004A>T |
Ile668Ile |
M0071591 |
DMHMBMNK_00013 |
12559 |
6 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
1998C>A |
Asp666Glu |
M0071592 |
DMHMBMNK_00013 |
12562 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1995T>C |
Asp665Asp |
M0071593 |
DMHMBMNK_00013 |
12577 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1980A>G |
Gln660Gln |
M0071594 |
DMHMBMNK_00013 |
12601 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1956C>T |
Ala652Ala |
M0071595 |
DMHMBMNK_00013 |
12622 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1935T>C |
Asn645Asn |
M0071596 |
DMHMBMNK_00013 |
12633 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1924T>C |
Tyr642His |
M0071597 |
DMHMBMNK_00013 |
12637 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1920C>T |
Phe640Phe |
M0071598 |
DMHMBMNK_00013 |
12649 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1908G>A |
Glu636Glu |
M0071599 |
DMHMBMNK_00013 |
12654 |
8 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
1903A>C |
Ser635Arg |
M0071600 |
DMHMBMNK_00013 |
12659 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1898G>A |
Arg633His |
M0071601 |
DMHMBMNK_00013 |
12686 |
8 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
1871A>C |
Lys624Thr |
M0071602 |
DMHMBMNK_00013 |
12696 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1861T>C |
Leu621Leu |
M0071603 |
DMHMBMNK_00013 |
12700 |
8 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1857T>C |
Tyr619Tyr |
M0071604 |
DMHMBMNK_00013 |
12733 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1824T>C |
Val608Val |
M0071605 |
DMHMBMNK_00013 |
12766 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1791A>G |
Leu597Leu |
M0071606 |
DMHMBMNK_00013 |
12781 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1776T>C |
Asn592Asn |
M0071607 |
DMHMBMNK_00013 |
12796 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1761C>T |
Ile587Ile |
M0071608 |
DMHMBMNK_00013 |
12822 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1735C>A |
His579Asn |
M0071609 |
DMHMBMNK_00013 |
12850 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1707A>G |
Gln569Gln |
M0071610 |
DMHMBMNK_00013 |
12865 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1692A>C |
Ser564Ser |
M0071611 |
DMHMBMNK_00013 |
12880 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1677A>T |
Lys559Asn |
M0071612 |
DMHMBMNK_00013 |
12882 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1675A>C |
Lys559Gln |
M0071613 |
DMHMBMNK_00013 |
12884 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1673G>A |
Arg558His |
M0071614 |
DMHMBMNK_00013 |
12937 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1620G>A |
Leu540Leu |
M0071615 |
DMHMBMNK_00013 |
12976 |
8 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
1581A>T |
Leu527Phe |
M0071616 |
DMHMBMNK_00013 |
13063 |
5 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1494T>A |
Asp498Glu |
M0071617 |
DMHMBMNK_00013 |
13114 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1443T>C |
Ser481Ser |
M0071618 |
DMHMBMNK_00013 |
13177 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1380T>C |
Ile460Ile |
M0071619 |
DMHMBMNK_00013 |
13189 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1368A>G |
Thr456Thr |
M0071620 |
DMHMBMNK_00013 |
13193 |
5 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1364A>C |
Asp455Ala |
M0071621 |
DMHMBMNK_00013 |
13214 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1343G>A |
Arg448His |
M0071622 |
DMHMBMNK_00013 |
13246 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1311A>C |
Ser437Ser |
M0071623 |
DMHMBMNK_00013 |
13284 |
6 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
1273G>A |
Glu425Lys |
M0071624 |
DMHMBMNK_00013 |
13300 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1257A>G |
Pro419Pro |
M0071625 |
DMHMBMNK_00013 |
13306 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1251C>T |
Ile417Ile |
M0071626 |
DMHMBMNK_00013 |
13333 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1224T>C |
Leu408Leu |
M0071627 |
DMHMBMNK_00013 |
13357 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1200C>A |
Leu400Leu |
M0071628 |
DMHMBMNK_00013 |
13366 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1191T>C |
Asn397Asn |
M0071629 |
DMHMBMNK_00013 |
13384 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1173A>G |
Gln391Gln |
M0071630 |
DMHMBMNK_00013 |
13417 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1140G>A |
Ala380Ala |
M0071631 |
DMHMBMNK_00013 |
13456 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1101C>T |
Thr367Thr |
M0071632 |
DMHMBMNK_00013 |
13507 |
5 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1050A>C |
Glu350Asp |
M0071633 |
DMHMBMNK_00013 |
13534 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1023A>G |
Pro341Pro |
M0071634 |
DMHMBMNK_00013 |
13556 |
6 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
1001G>T |
Trp334Leu |
M0071635 |
DMHMBMNK_00013 |
13603 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
954C>T |
Leu318Leu |
M0071636 |
DMHMBMNK_00013 |
13612 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
945G>A |
Val315Val |
M0071637 |
DMHMBMNK_00013 |
13771 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
786T>C |
Arg262Arg |
M0071638 |
DMHMBMNK_00013 |
13804 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
753A>G |
Leu251Leu |
M0071639 |
DMHMBMNK_00013 |
13843 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
714C>T |
Val238Val |
M0071640 |
DMHMBMNK_00013 |
13852 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
705A>T |
Ala235Ala |
M0071641 |
DMHMBMNK_00013 |
13882 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
675G>A |
Leu225Leu |
M0071642 |
DMHMBMNK_00013 |
13930 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
627G>T |
Thr209Thr |
M0071643 |
DMHMBMNK_00013 |
13963 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
594T>C |
Gly198Gly |
M0071644 |
DMHMBMNK_00013 |
13975 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
582T>C |
Gly194Gly |
M0071645 |
DMHMBMNK_00013 |
14007 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
550T>C |
Leu184Leu |
M0071646 |
DMHMBMNK_00013 |
14026 |
5 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
531G>A |
Met177Ile |
M0071647 |
DMHMBMNK_00013 |
14047 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
510A>G |
Val170Val |
M0071648 |
DMHMBMNK_00013 |
14134 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
423G>A |
Lys141Lys |
M0071649 |
DMHMBMNK_00013 |
14248 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
309T>C |
Ile103Ile |
M0071650 |
DMHMBMNK_00013 |
14260 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
297T>C |
Val99Val |
M0071651 |
DMHMBMNK_00013 |
14263 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
294G>A |
Gly98Gly |
M0071652 |
DMHMBMNK_00013 |
14302 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
255G>T |
Val85Val |
M0071653 |
DMHMBMNK_00013 |
14317 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
240C>T |
Tyr80Tyr |
M0071654 |
DMHMBMNK_00013 |
14325 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
232T>C |
Leu78Leu |
M0071655 |
DMHMBMNK_00013 |
14329 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
228G>A |
Lys76Lys |
M0071656 |
DMHMBMNK_00013 |
14337 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
220A>C |
Arg74Arg |
M0071657 |
DMHMBMNK_00013 |
14392 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
165T>C |
Val55Val |
M0071658 |
DMHMBMNK_00013 |
14439 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
118C>T |
Leu40Leu |
M0071659 |
DMHMBMNK_00013 |
14440 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
117G>T |
Ala39Ala |
M0071660 |
DMHMBMNK_00013 |
14443 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
114A>C |
Val38Val |
M0071661 |
DMHMBMNK_00013 |
14518 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
39C>T |
Ala13Ala |
M0071662 |
DMHMBMNK_00010 |
14564 |
7 |
Skin |
0.23 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4257T>C |
None |
M0071663 |
DMHMBMNK_00010 |
14587 |
6 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4280G>T |
None |
M0071664 |
DMHMBMNK_00010 |
14612 |
6 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4305T>C |
None |
M0071665 |
DMHMBMNK_00010 |
14635 |
5 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4328C>A |
None |
M0071666 |
DMHMBMNK_00010 |
14652 |
6 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4345T>C |
None |
M0071667 |
DMHMBMNK_00010 |
14660 |
5 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4353T>C |
None |
M0071668 |
DMHMBMNK_00014 |
14754 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1332G>A |
Lys444Lys |
M0071669 |
DMHMBMNK_00014 |
14800 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1286T>G |
Phe429Cys |
M0071670 |
DMHMBMNK_00014 |
14832 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1254G>A |
Leu418Leu |
M0071671 |
DMHMBMNK_00014 |
14838 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1248G>A |
Val416Val |
M0071672 |
DMHMBMNK_00014 |
14850 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1236G>A |
Leu412Leu |
M0071673 |
DMHMBMNK_00014 |
14879 |
6 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
1207C>A |
Leu403Met |
M0071674 |
DMHMBMNK_00014 |
14910 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1176C>T |
His392His |
M0071675 |
DMHMBMNK_00014 |
14934 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1152A>G |
Arg384Arg |
M0071676 |
DMHMBMNK_00014 |
14961 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1125T>C |
Ile375Ile |
M0071677 |
DMHMBMNK_00014 |
14976 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1110T>C |
Val370Val |
M0071678 |
DMHMBMNK_00014 |
15036 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1050T>C |
Phe350Phe |
M0071679 |
DMHMBMNK_00014 |
15045 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1041T>C |
Asn347Asn |
M0071680 |
DMHMBMNK_00014 |
15057 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1029C>T |
Ala343Ala |
M0071681 |
DMHMBMNK_00014 |
15072 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1014G>A |
Gly338Gly |
M0071682 |
DMHMBMNK_00014 |
15084 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1002T>G |
Leu334Leu |
M0071683 |
DMHMBMNK_00014 |
15135 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
951C>T |
Pro317Pro |
M0071684 |
DMHMBMNK_00014 |
15143 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
943C>T |
Leu315Leu |
M0071685 |
DMHMBMNK_00014 |
15159 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
927A>T |
Gly309Gly |
M0071686 |
DMHMBMNK_00014 |
15180 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
906A>T |
Ser302Ser |
M0071687 |
DMHMBMNK_00014 |
15195 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
891C>T |
Asn297Asn |
M0071688 |
DMHMBMNK_00014 |
15213 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
873C>A |
Ala291Ala |
M0071689 |
DMHMBMNK_00014 |
15279 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
807A>G |
Val269Val |
M0071690 |
DMHMBMNK_00014 |
15303 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
783T>C |
Ile261Ile |
M0071691 |
DMHMBMNK_00014 |
15399 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
687G>T |
Val229Val |
M0071692 |
DMHMBMNK_00014 |
15426 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
660T>C |
Ala220Ala |
M0071693 |
DMHMBMNK_00014 |
15534 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
552C>T |
Asn184Asn |
M0071694 |
DMHMBMNK_00014 |
15552 |
4 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
534A>T |
Gly178Gly |
M0071695 |
DMHMBMNK_00014 |
15561 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
525G>A |
Thr175Thr |
M0071696 |
DMHMBMNK_00014 |
15606 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
480C>T |
Ala160Ala |
M0071697 |
DMHMBMNK_00014 |
15753 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
333C>T |
Tyr111Tyr |
M0071698 |
DMHMBMNK_00014 |
15768 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
318G>A |
Thr106Thr |
M0071699 |
DMHMBMNK_00014 |
15843 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
243G>A |
Leu81Leu |
M0071700 |
DMHMBMNK_00014 |
15861 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
225T>C |
Asp75Asp |
M0071701 |
DMHMBMNK_00014 |
15897 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
189A>G |
Leu63Leu |
M0071702 |
DMHMBMNK_00014 |
15918 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
168C>T |
Phe56Phe |
M0071703 |
DMHMBMNK_00014 |
15933 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
153A>C |
Ile51Ile |
M0071704 |
DMHMBMNK_00014 |
15954 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
132T>C |
Ile44Ile |
M0071705 |
DMHMBMNK_00014 |
15957 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
129G>C |
Leu43Leu |
M0071706 |
DMHMBMNK_00014 |
15962 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
124T>C |
Leu42Leu |
M0071707 |
DMHMBMNK_00014 |
15969 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
117G>A |
Gly39Gly |
M0071708 |
DMHMBMNK_00013 |
16098 |
4 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1542G>T |
None |
M0071709 |
DMHMBMNK_00013 |
16106 |
4 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1550G>T |
None |
M0071710 |
DMHMBMNK_00013 |
16109 |
6 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1553C>T |
None |
M0071711 |
DMHMBMNK_00013 |
16110 |
4 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1554G>A |
None |
M0071712 |
DMHMBMNK_00013 |
16117 |
4 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1561A>G |
None |
M0071713 |
DMHMBMNK_00013 |
16118 |
4 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1562T>C |
None |
M0071714 |
DMHMBMNK_00013 |
16119 |
4 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1563G>T |
None |
M0071715 |
DMHMBMNK_00013 |
16134 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1578A>G |
None |
M0071716 |
DMHMBMNK_00013 |
16135 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1579T>C |
None |
M0071717 |
DMHMBMNK_00013 |
16142 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1586T>C |
None |
M0071718 |
DMHMBMNK_00013 |
16150 |
4 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1594C>A |
None |
M0071719 |
DMHMBMNK_00013 |
16162 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1606C>T |
None |
M0071720 |
DMHMBMNK_00013 |
16172 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1616C>T |
None |
M0071721 |
DMHMBMNK_00013 |
16297 |
5 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1741C>T |
None |
M0071722 |
DMHMBMNK_00015 |
16427 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
36C>T |
Asp12Asp |
M0071723 |
DMHMBMNK_00015 |
16440 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
49C>T |
Leu17Leu |
M0071724 |
DMHMBMNK_00015 |
16481 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
90T>A |
Val30Val |
M0071725 |
DMHMBMNK_00015 |
16494 |
6 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
103A>G |
Ile35Val |
M0071726 |
DMHMBMNK_00015 |
16526 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
135A>G |
Ser45Ser |
M0071727 |
DMHMBMNK_00015 |
16529 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
138T>C |
Asn46Asn |
M0071728 |
DMHMBMNK_00015 |
16587 |
6 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
196A>G |
Ile66Val |
M0071729 |
DMHMBMNK_00015 |
16590 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
199T>C |
Leu67Leu |
M0071730 |
DMHMBMNK_00015 |
16624 |
6 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
233C>T |
Ala78Val |
M0071731 |
DMHMBMNK_00015 |
16633 |
6 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
242G>A |
Gly81Glu |
M0071732 |
DMHMBMNK_00015 |
16943 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
552G>A |
Val184Val |
M0071733 |
DMHMBMNK_00015 |
17024 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
633C>T |
Asp211Asp |
M0071734 |
DMHMBMNK_00015 |
17026 |
5 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
635G>A |
Arg212Gln |
M0071735 |
DMHMBMNK_00015 |
17036 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
645A>G |
Gln215Gln |
M0071736 |
DMHMBMNK_00015 |
17066 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
675G>A |
Gly225Gly |
M0071737 |
DMHMBMNK_00015 |
17093 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
702A>T |
Val234Val |
M0071738 |
DMHMBMNK_00015 |
17186 |
5 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
795A>G |
Ile265Met |
M0071739 |
DMHMBMNK_00013 |
17226 |
6 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2670G>A |
None |
M0071740 |
DMHMBMNK_00013 |
17233 |
6 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2677G>T |
None |
M0071741 |
DMHMBMNK_00013 |
17242 |
6 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2686A>G |
None |
M0071742 |
DMHMBMNK_00016 |
17369 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
499A>G |
Ile167Val |
M0071743 |
DMHMBMNK_00016 |
17472 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
396C>T |
His132His |
M0071744 |
DMHMBMNK_00016 |
17517 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
351C>T |
Ser117Ser |
M0071745 |
DMHMBMNK_00016 |
17537 |
5 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
331A>G |
Ile111Val |
M0071746 |
DMHMBMNK_00016 |
17567 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
301T>C |
Leu101Leu |
M0071747 |
DMHMBMNK_00016 |
17571 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
297A>G |
Glu99Glu |
M0071748 |
DMHMBMNK_00016 |
17613 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
255A>T |
Thr85Thr |
M0071749 |
DMHMBMNK_00016 |
17718 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
150G>T |
Thr50Thr |
M0071750 |
DMHMBMNK_00016 |
17721 |
5 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
147T>C |
Pro49Pro |
M0071751 |
DMHMBMNK_00020 |
21595 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
909A>G |
Thr303Thr |
M0071752 |
DMHMBMNK_00020 |
21718 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
786G>A |
Ala262Ala |
M0071753 |
DMHMBMNK_00020 |
22256 |
6 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
248G>A |
Arg83His |
M0071754 |
DMHMBMNK_00020 |
22357 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
147G>A |
Glu49Glu |
M0071755 |
DMHMBMNK_00018 |
19391 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1104C>T |
Tyr368Tyr |
M0071756 |
DMHMBMNK_00018 |
19394 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1101A>G |
Gln367Gln |
M0071757 |
DMHMBMNK_00018 |
19895 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
600T>C |
Phe200Phe |
M0071758 |
DMHMBMNK_00018 |
19903 |
6 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
592T>G |
Ser198Ala |
M0071759 |
DMHMBMNK_00018 |
19910 |
7 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
585C>T |
Asp195Asp |
M0071760 |
DMHMBMNK_00018 |
20191 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
304A>C |
Ile102Leu |
M0071761 |
DMHMBMNK_00018 |
20312 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
183G>A |
Ala61Ala |
M0071762 |
DMHMBMNK_00018 |
20450 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
45C>T |
Ile15Ile |
M0071763 |
DMHMBMNK_00019 |
20767 |
8 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
591A>G |
Lys197Lys |
M0071764 |
DMHMBMNK_00019 |
20854 |
8 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
504T>A |
Ile168Ile |
M0071765 |
DMHMBMNK_00019 |
21016 |
8 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
342T>G |
Asn114Lys |
M0071766 |
DMHMBMNK_00019 |
21172 |
6 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
186T>C |
Asn62Asn |
M0071767 |
DMHMBMNK_00020 |
21488 |
6 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
1016G>C |
Ser339Thr |
M0071768 |
DMHMBMNK_00020 |
21664 |
6 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
840A>C |
Arg280Ser |
M0071769 |
DMHMBMNK_00020 |
21973 |
6 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
531T>A |
Asn177Lys |
M0071770 |
DMHMBMNK_00020 |
21410 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1094C>T |
Ala365Val |
M0071771 |
DMHMBMNK_00006 |
5127 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
474T>G |
Phe158Leu |
M0071772 |
DMHMBMNK_00010 |
9937 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
371G>A |
Ser124Asn |
M0071773 |
DMHMBMNK_00009 |
10503 |
4 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1787C>T |
None |
M0071774 |
DMHMBMNK_00012 |
11668 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1089C>T |
Ile363Ile |
M0071775 |
DMHMBMNK_00012 |
11677 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1098T>C |
His366His |
M0071776 |
DMHMBMNK_00014 |
14789 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1297G>A |
Val433Ile |
M0071777 |
DMHMBMNK_00019 |
21176 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
182C>G |
Ala61Gly |
M0071778 |
DMHMBMNK_00019 |
21178 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
180T>G |
Asn60Lys |
M0071779 |
DMHMBMNK_00004 |
7252 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4618G>A |
None |
M0071780 |
DMHMBMNK_00004 |
7291 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4657C>A |
None |
M0071781 |
DMHMBMNK_00004 |
7296 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4662G>A |
None |
M0071782 |
DMHMBMNK_00004 |
7311 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4677A>G |
None |
M0071783 |
DMHMBMNK_00004 |
7341 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4707A>T |
None |
M0071784 |
DMHMBMNK_00008 |
7376 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
33G>A |
Thr11Thr |
M0071785 |
DMHMBMNK_00008 |
7433 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
90C>A |
Ile30Ile |
M0071786 |
DMHMBMNK_00009 |
8270 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
447G>A |
Thr149Thr |
M0071787 |
DMHMBMNK_00009 |
8273 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
444T>C |
Tyr148Tyr |
M0071788 |
DMHMBMNK_00009 |
8620 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
97G>A |
Val33Ile |
M0071789 |
DMHMBMNK_00010 |
9011 |
4 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1297A>C |
Met433Leu |
M0071790 |
DMHMBMNK_00010 |
9327 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
981T>C |
Gly327Gly |
M0071791 |
DMHMBMNK_00009 |
10427 |
3 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1711C>A |
None |
M0071792 |
DMHMBMNK_00012 |
11006 |
3 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
427C>T |
His143Tyr |
M0071793 |
DMHMBMNK_00012 |
11032 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
453A>G |
Leu151Leu |
M0071794 |
DMHMBMNK_00012 |
11314 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
735T>A |
Gly245Gly |
M0071795 |
DMHMBMNK_00013 |
13411 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1146A>G |
Thr382Thr |
M0071796 |
DMHMBMNK_00013 |
13447 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1110C>T |
Gly370Gly |
M0071797 |
DMHMBMNK_00013 |
13528 |
3 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1029T>C |
Asn343Asn |
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 |
DMHMBMNK_00006 |
Cetrimide (CTM) [class: Quaternary Ammonium Compounds (QACs)] |
83.8 |
1.9e-213 |
1 |
464 |
0.9957 |
1.0000 |
prediction |
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 |
DMHMBMNK_00005 |
PHI:9934 |
lytS |
76 |
1.2e-244 |
1 |
583 |
0.9983 |
0.9983 |
nematodes |
infective endocarditis |
sensor protein |
reduced virulence |
DMHMBMNK_00022 |
PHI:123153 |
NWMN2330 |
74.6 |
2e-51 |
1 |
126 |
1.0000 |
0.9844 |
rodents |
skin infection; food poisoning; respiratory disease |
virulence factor |
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 |
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 |
DMHMBMNK_00022 |
2.A.129.1.7 |
74.6 |
4.4e-51 |
1 |
126 |
1.0000 |
0.9844 |
2 |
Electrochemical Potential-driven Transporters |
2.A |
Porters (uniporters, symporters, antiporters) |
2.A.129 |
The Lipid-linked Sugar Translocase (LST) Family |