Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C2753 |
Reference Plasmid |
1111525849862132_bin.8__k141_483077 |
Reference Plasmid Size |
92938 |
Reference Plasmid GC Content |
0.39 |
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 |
M0054841 |
IMOBMPAE_00039 |
37192 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
300A>C |
Lys100Asn |
M0054842 |
IMOBMPAE_00047 |
44025 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1634C>T |
Thr545Met |
M0054843 |
IMOBMPAE_00047 |
44167 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1492A>G |
Asn498Asp |
M0054844 |
IMOBMPAE_00047 |
44207 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1452A>T |
Leu484Leu |
M0054845 |
IMOBMPAE_00047 |
45359 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
300A>G |
Thr100Thr |
M0054846 |
IMOBMPAE_00047 |
45512 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
147A>C |
Gly49Gly |
M0054847 |
IMOBMPAE_00047 |
45515 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
144C>G |
Asp48Glu |
M0054848 |
IMOBMPAE_00047 |
45530 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
129G>T |
Ala43Ala |
M0054849 |
IMOBMPAE_00047 |
45545 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
114A>G |
Glu38Glu |
M0054850 |
IMOBMPAE_00048 |
45833 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1026G>A |
Arg342Arg |
M0054851 |
IMOBMPAE_00048 |
45854 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1005C>T |
Ile335Ile |
M0054852 |
IMOBMPAE_00048 |
45872 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
987A>C |
Ile329Ile |
M0054853 |
IMOBMPAE_00048 |
45875 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
984T>C |
Thr328Thr |
M0054854 |
IMOBMPAE_00048 |
45893 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
966T>G |
Ser322Ser |
M0054855 |
IMOBMPAE_00048 |
46033 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
826G>A |
Asp276Asn |
M0054856 |
IMOBMPAE_00048 |
46069 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
790G>A |
Asp264Asn |
M0054857 |
IMOBMPAE_00048 |
46208 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
651T>A |
Val217Val |
M0054858 |
IMOBMPAE_00048 |
46211 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
648A>G |
Ala216Ala |
M0054859 |
IMOBMPAE_00048 |
46520 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
339T>G |
Gly113Gly |
M0054860 |
IMOBMPAE_00048 |
46691 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
168A>G |
Val56Val |
M0054861 |
IMOBMPAE_00049 |
46986 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1242G>T |
Pro414Pro |
M0054862 |
IMOBMPAE_00049 |
46990 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1238C>T |
Ala413Val |
M0054863 |
IMOBMPAE_00049 |
46998 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1230T>G |
Leu410Leu |
M0054864 |
IMOBMPAE_00049 |
47130 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1098C>T |
Tyr366Tyr |
M0054865 |
IMOBMPAE_00049 |
47145 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1083A>G |
Lys361Lys |
M0054866 |
IMOBMPAE_00049 |
47151 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1077T>C |
Asp359Asp |
M0054867 |
IMOBMPAE_00049 |
47160 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1068A>T |
Thr356Thr |
M0054868 |
IMOBMPAE_00049 |
47172 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1056G>A |
Pro352Pro |
M0054869 |
IMOBMPAE_00049 |
47178 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1050C>T |
Ile350Ile |
M0054870 |
IMOBMPAE_00049 |
47312 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
916G>A |
Asp306Asn |
M0054871 |
IMOBMPAE_00049 |
47334 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
894G>A |
Lys298Lys |
M0054872 |
IMOBMPAE_00049 |
47348 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
880A>G |
Asn294Asp |
M0054873 |
IMOBMPAE_00049 |
47356 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
872A>C |
Glu291Ala |
M0054874 |
IMOBMPAE_00049 |
47357 |
3 |
Skin |
0.11 |
protein_coding |
stop_gained |
HIGH |
871G>T |
Glu291* |
M0054875 |
IMOBMPAE_00049 |
47373 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
855T>C |
Pro285Pro |
M0054876 |
IMOBMPAE_00049 |
47430 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
798A>C |
Leu266Leu |
M0054877 |
IMOBMPAE_00049 |
47586 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
642T>C |
Gly214Gly |
M0054878 |
IMOBMPAE_00049 |
47612 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
616A>C |
Ile206Leu |
M0054879 |
IMOBMPAE_00049 |
47766 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
462C>T |
Ser154Ser |
M0054880 |
IMOBMPAE_00049 |
47797 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
431T>C |
Val144Ala |
M0054881 |
IMOBMPAE_00049 |
48033 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
195T>A |
Asp65Glu |
M0054882 |
IMOBMPAE_00049 |
48096 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
132T>A |
Asn44Lys |
M0054883 |
IMOBMPAE_00049 |
48132 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
96C>A |
Ile32Ile |
M0054884 |
IMOBMPAE_00049 |
48135 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
93G>T |
Pro31Pro |
M0054885 |
IMOBMPAE_00049 |
48168 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
60C>T |
Asn20Asn |
M0054886 |
IMOBMPAE_00049 |
48177 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
51C>T |
Ile17Ile |
M0054887 |
IMOBMPAE_00050 |
48559 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
224C>A |
Thr75Asn |
M0054888 |
IMOBMPAE_00050 |
48749 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
34C>G |
Gln12Glu |
M0054889 |
IMOBMPAE_00047 |
48846 |
3 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3188A>C |
None |
M0054890 |
IMOBMPAE_00048 |
51268 |
10 |
Skin |
0.36 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4410T>C |
None |
M0054891 |
IMOBMPAE_00048 |
51287 |
10 |
Skin |
0.36 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4429A>G |
None |
M0054892 |
IMOBMPAE_00048 |
51311 |
10 |
Skin |
0.36 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4453A>G |
None |
M0054893 |
IMOBMPAE_00053 |
51516 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
73T>A |
Ser25Thr |
M0054894 |
IMOBMPAE_00053 |
51542 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
99T>C |
Val33Val |
M0054895 |
IMOBMPAE_00053 |
51551 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
108A>G |
Lys36Lys |
M0054896 |
IMOBMPAE_00053 |
51578 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
135T>G |
Gly45Gly |
M0054897 |
IMOBMPAE_00053 |
51704 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
261C>T |
Val87Val |
M0054898 |
IMOBMPAE_00053 |
51711 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
268A>G |
Ser90Gly |
M0054899 |
IMOBMPAE_00053 |
51722 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
279C>T |
Tyr93Tyr |
M0054900 |
IMOBMPAE_00053 |
51728 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
285C>T |
Asn95Asn |
M0054901 |
IMOBMPAE_00053 |
51731 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
288A>C |
Gly96Gly |
M0054902 |
IMOBMPAE_00053 |
51734 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
291A>C |
Lys97Asn |
M0054903 |
IMOBMPAE_00053 |
51737 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
294T>C |
Tyr98Tyr |
M0054904 |
IMOBMPAE_00053 |
51770 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
327T>C |
Tyr109Tyr |
M0054905 |
IMOBMPAE_00049 |
52338 |
3 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4111G>A |
None |
M0054906 |
IMOBMPAE_00049 |
52341 |
3 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4114C>T |
None |
M0054907 |
IMOBMPAE_00049 |
52344 |
3 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4117T>C |
None |
M0054908 |
IMOBMPAE_00049 |
52362 |
5 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4135T>C |
None |
M0054909 |
IMOBMPAE_00054 |
52639 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
24G>T |
Ser8Ser |
M0054910 |
IMOBMPAE_00054 |
52701 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
86A>C |
Glu29Ala |
M0054911 |
IMOBMPAE_00054 |
52762 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
147A>G |
Val49Val |
M0054912 |
IMOBMPAE_00054 |
52879 |
7 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
264C>A |
Asp88Glu |
M0054913 |
IMOBMPAE_00054 |
52892 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
277G>A |
Glu93Lys |
M0054914 |
IMOBMPAE_00054 |
52913 |
6 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
298T>C |
Ser100Pro |
M0054915 |
IMOBMPAE_00054 |
52918 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
303T>C |
Tyr101Tyr |
M0054916 |
IMOBMPAE_00054 |
53081 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
466G>A |
Glu156Lys |
M0054917 |
IMOBMPAE_00054 |
53094 |
6 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
479A>G |
Gln160Arg |
M0054918 |
IMOBMPAE_00054 |
53180 |
10 |
Skin |
0.36 |
protein_coding |
missense_variant |
MODERATE |
565T>G |
Tyr189Asp |
M0054919 |
IMOBMPAE_00054 |
53320 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
705C>G |
Ala235Ala |
M0054920 |
IMOBMPAE_00054 |
53335 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
720C>T |
Phe240Phe |
M0054921 |
IMOBMPAE_00054 |
53350 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
735G>A |
Arg245Arg |
M0054922 |
IMOBMPAE_00054 |
53359 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
744A>G |
Gln248Gln |
M0054923 |
IMOBMPAE_00054 |
53374 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
759C>G |
Pro253Pro |
M0054924 |
IMOBMPAE_00054 |
53387 |
6 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
772C>A |
Gln258Lys |
M0054925 |
IMOBMPAE_00054 |
53522 |
7 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
907G>A |
Ala303Thr |
M0054926 |
IMOBMPAE_00054 |
53531 |
7 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
916C>G |
Leu306Val |
M0054927 |
IMOBMPAE_00054 |
53545 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
930T>C |
Ser310Ser |
M0054928 |
IMOBMPAE_00054 |
53549 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
934T>C |
Leu312Leu |
M0054929 |
IMOBMPAE_00054 |
53557 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
942A>G |
Lys314Lys |
M0054930 |
IMOBMPAE_00054 |
53632 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1017A>T |
Ile339Ile |
M0054931 |
IMOBMPAE_00054 |
53635 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1020C>A |
Ala340Ala |
M0054932 |
IMOBMPAE_00054 |
53652 |
7 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
1037T>A |
Met346Lys |
M0054933 |
IMOBMPAE_00054 |
53717 |
5 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
1102A>G |
Lys368Glu |
M0054934 |
IMOBMPAE_00054 |
53719 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1104G>A |
Lys368Lys |
M0054935 |
IMOBMPAE_00054 |
53736 |
5 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
1121G>A |
Ser374Asn |
M0054936 |
IMOBMPAE_00054 |
53754 |
5 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
1139A>C |
Lys380Thr |
M0054937 |
IMOBMPAE_00054 |
53845 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1230C>T |
Val410Val |
M0054938 |
IMOBMPAE_00054 |
53852 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1237A>C |
Arg413Arg |
M0054939 |
IMOBMPAE_00054 |
53855 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
1240A>C |
Met414Leu |
M0054940 |
IMOBMPAE_00054 |
53856 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
1241T>A |
Met414Lys |
M0054941 |
IMOBMPAE_00054 |
53862 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
1247T>A |
Phe416Tyr |
M0054942 |
IMOBMPAE_00054 |
53868 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
1253A>G |
Asp418Gly |
M0054943 |
IMOBMPAE_00054 |
53870 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1255C>A |
Arg419Arg |
M0054944 |
IMOBMPAE_00054 |
53873 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1258T>C |
Leu420Leu |
M0054945 |
IMOBMPAE_00055 |
54408 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
165G>A |
Gly55Gly |
M0054946 |
IMOBMPAE_00055 |
54411 |
6 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
168C>A |
Asn56Lys |
M0054947 |
IMOBMPAE_00055 |
54412 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
169C>T |
Leu57Leu |
M0054948 |
IMOBMPAE_00055 |
54414 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
171A>T |
Leu57Leu |
M0054949 |
IMOBMPAE_00055 |
54416 |
5 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
173A>C |
His58Pro |
M0054950 |
IMOBMPAE_00055 |
54448 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
205C>G |
Gln69Glu |
M0054951 |
IMOBMPAE_00055 |
54621 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
378G>A |
Thr126Thr |
M0054952 |
IMOBMPAE_00055 |
54738 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
495T>C |
Leu165Leu |
M0054953 |
IMOBMPAE_00055 |
54777 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
534A>G |
Lys178Lys |
M0054954 |
IMOBMPAE_00056 |
54993 |
9 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
75G>T |
Leu25Phe |
M0054955 |
IMOBMPAE_00056 |
55050 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
132C>G |
Gly44Gly |
M0054956 |
IMOBMPAE_00056 |
55051 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
133T>C |
Leu45Leu |
M0054957 |
IMOBMPAE_00056 |
55053 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
135G>A |
Leu45Leu |
M0054958 |
IMOBMPAE_00056 |
55056 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
138A>G |
Val46Val |
M0054959 |
IMOBMPAE_00056 |
55075 |
7 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
157T>A |
Leu53Ile |
M0054960 |
IMOBMPAE_00056 |
55101 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
183T>A |
Val61Val |
M0054961 |
IMOBMPAE_00056 |
55407 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
489G>A |
Glu163Glu |
M0054962 |
IMOBMPAE_00056 |
55408 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
490T>C |
Leu164Leu |
M0054963 |
IMOBMPAE_00056 |
55409 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
491T>C |
Leu164Ser |
M0054964 |
IMOBMPAE_00056 |
55521 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
603C>T |
Ala201Ala |
M0054965 |
IMOBMPAE_00057 |
55580 |
3 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-104C>A |
None |
M0054966 |
IMOBMPAE_00057 |
55603 |
7 |
Skin |
0.25 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-81A>C |
None |
M0054967 |
IMOBMPAE_00057 |
55618 |
6 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-66A>G |
None |
M0054968 |
IMOBMPAE_00058 |
56063 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
57G>A |
Lys19Lys |
M0054969 |
IMOBMPAE_00058 |
56066 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
60A>T |
Gly20Gly |
M0054970 |
IMOBMPAE_00058 |
56087 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
81T>G |
Val27Val |
M0054971 |
IMOBMPAE_00058 |
56100 |
10 |
Skin |
0.36 |
protein_coding |
missense_variant |
MODERATE |
94A>G |
Ile32Val |
M0054972 |
IMOBMPAE_00058 |
56112 |
8 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
106A>T |
Thr36Ser |
M0054973 |
IMOBMPAE_00058 |
56189 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
183G>C |
Leu61Leu |
M0054974 |
IMOBMPAE_00058 |
56204 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
198G>A |
Gln66Gln |
M0054975 |
IMOBMPAE_00058 |
56207 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
201T>C |
Asp67Asp |
M0054976 |
IMOBMPAE_00058 |
56231 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
225C>A |
Thr75Thr |
M0054977 |
IMOBMPAE_00058 |
56234 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
228A>G |
Arg76Arg |
M0054978 |
IMOBMPAE_00058 |
56247 |
7 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
241A>G |
Ile81Val |
M0054979 |
IMOBMPAE_00059 |
56386 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
12G>A |
Lys4Lys |
M0054980 |
IMOBMPAE_00059 |
56441 |
10 |
Skin |
0.36 |
protein_coding |
missense_variant |
MODERATE |
67C>T |
Arg23Trp |
M0054981 |
IMOBMPAE_00059 |
56467 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
93G>A |
Gln31Gln |
M0054982 |
IMOBMPAE_00059 |
56491 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
117T>A |
Ile39Ile |
M0054983 |
IMOBMPAE_00059 |
56497 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
123T>C |
Ile41Ile |
M0054984 |
IMOBMPAE_00059 |
56512 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
138G>A |
Glu46Glu |
M0054985 |
IMOBMPAE_00059 |
56518 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
144C>T |
Tyr48Tyr |
M0054986 |
IMOBMPAE_00059 |
56542 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
168G>A |
Leu56Leu |
M0054987 |
IMOBMPAE_00059 |
56545 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
171C>T |
Asn57Asn |
M0054988 |
IMOBMPAE_00059 |
56548 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
174T>C |
Phe58Phe |
M0054989 |
IMOBMPAE_00059 |
56593 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
219A>G |
Arg73Arg |
M0054990 |
IMOBMPAE_00059 |
56596 |
8 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
222C>G |
Ile74Met |
M0054991 |
IMOBMPAE_00059 |
56620 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
246T>C |
Ser82Ser |
M0054992 |
IMOBMPAE_00059 |
56759 |
8 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
385T>C |
Ser129Pro |
M0054993 |
IMOBMPAE_00059 |
56761 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
387A>C |
Ser129Ser |
M0054994 |
IMOBMPAE_00059 |
56764 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
390A>G |
Lys130Lys |
M0054995 |
IMOBMPAE_00059 |
56785 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
411A>G |
Lys137Lys |
M0054996 |
IMOBMPAE_00059 |
56791 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
417C>T |
Tyr139Tyr |
M0054997 |
IMOBMPAE_00059 |
56797 |
6 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
423C>G |
Asp141Glu |
M0054998 |
IMOBMPAE_00059 |
56800 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
426G>C |
Leu142Leu |
M0054999 |
IMOBMPAE_00059 |
56820 |
6 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
446T>C |
Val149Ala |
M0055000 |
IMOBMPAE_00059 |
56894 |
6 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
520G>A |
Val174Ile |
M0055001 |
IMOBMPAE_00059 |
57022 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
648A>G |
Leu216Leu |
M0055002 |
IMOBMPAE_00059 |
57025 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
651T>C |
Pro217Pro |
M0055003 |
IMOBMPAE_00059 |
57046 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
672G>T |
Ser224Ser |
M0055004 |
IMOBMPAE_00059 |
57085 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
711T>C |
Val237Val |
M0055005 |
IMOBMPAE_00059 |
57116 |
6 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
742G>A |
Asp248Asn |
M0055006 |
IMOBMPAE_00059 |
57265 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
891G>A |
Leu297Leu |
M0055007 |
IMOBMPAE_00059 |
57274 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
900C>T |
Asn300Asn |
M0055008 |
IMOBMPAE_00059 |
57277 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
903C>T |
Ile301Ile |
M0055009 |
IMOBMPAE_00059 |
57289 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
915T>G |
Gly305Gly |
M0055010 |
IMOBMPAE_00059 |
57370 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
996A>T |
Ile332Ile |
M0055011 |
IMOBMPAE_00059 |
57388 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1014A>C |
Thr338Thr |
M0055012 |
IMOBMPAE_00059 |
57502 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1128A>G |
Glu376Glu |
M0055013 |
IMOBMPAE_00059 |
57529 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1155G>A |
Glu385Glu |
M0055014 |
IMOBMPAE_00059 |
57589 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
1215T>A |
Val405Val |
M0055015 |
IMOBMPAE_00059 |
57599 |
10 |
Skin |
0.36 |
protein_coding |
missense_variant |
MODERATE |
1225A>G |
Ile409Val |
M0055016 |
IMOBMPAE_00059 |
57625 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1251G>A |
Lys417Lys |
M0055017 |
IMOBMPAE_00059 |
57706 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
1332A>G |
Val444Val |
M0055018 |
IMOBMPAE_00059 |
57760 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1386G>A |
Ser462Ser |
M0055019 |
IMOBMPAE_00060 |
57897 |
5 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-28T>C |
None |
M0055020 |
IMOBMPAE_00060 |
57963 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
39G>T |
Leu13Leu |
M0055021 |
IMOBMPAE_00060 |
58018 |
7 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
94A>G |
Ser32Gly |
M0055022 |
IMOBMPAE_00060 |
58074 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
150G>A |
Leu50Leu |
M0055023 |
IMOBMPAE_00060 |
58119 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
195A>G |
Glu65Glu |
M0055024 |
IMOBMPAE_00060 |
58176 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
252G>A |
Arg84Arg |
M0055025 |
IMOBMPAE_00060 |
58251 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
327C>T |
Tyr109Tyr |
M0055026 |
IMOBMPAE_00060 |
58368 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
444C>T |
Gly148Gly |
M0055027 |
IMOBMPAE_00060 |
58467 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
543T>C |
Asp181Asp |
M0055028 |
IMOBMPAE_00060 |
58503 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
579T>C |
His193His |
M0055029 |
IMOBMPAE_00060 |
58551 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
627A>G |
Leu209Leu |
M0055030 |
IMOBMPAE_00060 |
58553 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
629G>A |
Arg210Lys |
M0055031 |
IMOBMPAE_00060 |
58584 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
660C>A |
Thr220Thr |
M0055032 |
IMOBMPAE_00060 |
58587 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
663G>C |
Thr221Thr |
M0055033 |
IMOBMPAE_00060 |
58590 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
666A>T |
Leu222Leu |
M0055034 |
IMOBMPAE_00060 |
58596 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
672G>A |
Glu224Glu |
M0055035 |
IMOBMPAE_00060 |
58599 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
675C>T |
Ser225Ser |
M0055036 |
IMOBMPAE_00060 |
58602 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
678A>T |
Ala226Ala |
M0055037 |
IMOBMPAE_00060 |
58611 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
687A>G |
Thr229Thr |
M0055038 |
IMOBMPAE_00060 |
58612 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
688T>C |
Leu230Leu |
M0055039 |
IMOBMPAE_00060 |
58629 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
705C>T |
Phe235Phe |
M0055040 |
IMOBMPAE_00060 |
59215 |
9 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
1291T>A |
Phe431Ile |
M0055041 |
IMOBMPAE_00060 |
59274 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1350T>C |
Asn450Asn |
M0055042 |
IMOBMPAE_00060 |
59325 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1401A>G |
Leu467Leu |
M0055043 |
IMOBMPAE_00061 |
59454 |
8 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
26T>C |
Val9Ala |
M0055044 |
IMOBMPAE_00061 |
59468 |
5 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
40T>C |
Phe14Leu |
M0055045 |
IMOBMPAE_00061 |
59478 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
50G>A |
Gly17Glu |
M0055046 |
IMOBMPAE_00061 |
59482 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
54T>A |
Ile18Ile |
M0055047 |
IMOBMPAE_00061 |
59486 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
58A>G |
Ser20Gly |
M0055048 |
IMOBMPAE_00061 |
59497 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
69G>A |
Gln23Gln |
M0055049 |
IMOBMPAE_00061 |
59517 |
5 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
89T>C |
Met30Thr |
M0055050 |
IMOBMPAE_00061 |
59764 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
336T>C |
Val112Val |
M0055051 |
IMOBMPAE_00062 |
60318 |
5 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
210A>C |
Lys70Asn |
M0055052 |
IMOBMPAE_00063 |
61139 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
306A>G |
Glu102Glu |
M0055053 |
IMOBMPAE_00063 |
61208 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
375T>C |
Val125Val |
M0055054 |
IMOBMPAE_00063 |
61226 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
393A>G |
Glu131Glu |
M0055055 |
IMOBMPAE_00063 |
61292 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
459C>T |
Asp153Asp |
M0055056 |
IMOBMPAE_00063 |
61296 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
463T>C |
Leu155Leu |
M0055057 |
IMOBMPAE_00063 |
61298 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
465A>G |
Leu155Leu |
M0055058 |
IMOBMPAE_00063 |
61314 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
481A>C |
Arg161Arg |
M0055059 |
IMOBMPAE_00063 |
61316 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
483G>T |
Arg161Ser |
M0055060 |
IMOBMPAE_00063 |
61319 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
486A>G |
Glu162Glu |
M0055061 |
IMOBMPAE_00063 |
61323 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
490T>C |
Leu164Leu |
M0055062 |
IMOBMPAE_00063 |
61383 |
11 |
Skin |
0.39 |
protein_coding |
synonymous_variant |
LOW |
550C>T |
Leu184Leu |
M0055063 |
IMOBMPAE_00063 |
61475 |
11 |
Skin |
0.39 |
protein_coding |
missense_variant |
MODERATE |
642A>C |
Glu214Asp |
M0055064 |
IMOBMPAE_00064 |
61534 |
8 |
Skin |
0.29 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-8A>G |
None |
M0055065 |
IMOBMPAE_00064 |
61598 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
57G>C |
Leu19Leu |
M0055066 |
IMOBMPAE_00064 |
61622 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
81A>G |
Gln27Gln |
M0055067 |
IMOBMPAE_00064 |
61700 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
159T>C |
Phe53Phe |
M0055068 |
IMOBMPAE_00064 |
61843 |
11 |
Skin |
0.39 |
protein_coding |
missense_variant |
MODERATE |
302A>G |
Lys101Arg |
M0055069 |
IMOBMPAE_00064 |
62045 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
504T>C |
Ser168Ser |
M0055070 |
IMOBMPAE_00064 |
62120 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
579C>T |
Asp193Asp |
M0055071 |
IMOBMPAE_00064 |
62126 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
585A>G |
Pro195Pro |
M0055072 |
IMOBMPAE_00064 |
62138 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
597T>C |
Arg199Arg |
M0055073 |
IMOBMPAE_00064 |
62156 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
615G>A |
Glu205Glu |
M0055074 |
IMOBMPAE_00064 |
62159 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
618A>C |
Thr206Thr |
M0055075 |
IMOBMPAE_00064 |
62189 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
648A>G |
Glu216Glu |
M0055076 |
IMOBMPAE_00064 |
62192 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
651A>C |
Leu217Leu |
M0055077 |
IMOBMPAE_00064 |
62201 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
660C>T |
Tyr220Tyr |
M0055078 |
IMOBMPAE_00064 |
62222 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
681G>T |
Leu227Leu |
M0055079 |
IMOBMPAE_00064 |
62223 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
682T>C |
Leu228Leu |
M0055080 |
IMOBMPAE_00064 |
62237 |
10 |
Skin |
0.36 |
protein_coding |
missense_variant |
MODERATE |
696C>A |
Asn232Lys |
M0055081 |
IMOBMPAE_00064 |
62295 |
9 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
754A>G |
Lys252Glu |
M0055082 |
IMOBMPAE_00065 |
62388 |
11 |
Skin |
0.39 |
protein_coding |
synonymous_variant |
LOW |
45C>G |
Leu15Leu |
M0055083 |
IMOBMPAE_00065 |
62493 |
11 |
Skin |
0.39 |
protein_coding |
synonymous_variant |
LOW |
150C>T |
Phe50Phe |
M0055084 |
IMOBMPAE_00065 |
62498 |
11 |
Skin |
0.39 |
protein_coding |
missense_variant |
MODERATE |
155G>A |
Arg52Lys |
M0055085 |
IMOBMPAE_00065 |
62553 |
11 |
Skin |
0.39 |
protein_coding |
synonymous_variant |
LOW |
210C>T |
Ala70Ala |
M0055086 |
IMOBMPAE_00065 |
62559 |
11 |
Skin |
0.39 |
protein_coding |
synonymous_variant |
LOW |
216T>C |
Gly72Gly |
M0055087 |
IMOBMPAE_00065 |
62574 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
231A>G |
Leu77Leu |
M0055088 |
IMOBMPAE_00065 |
62613 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
270C>T |
Gly90Gly |
M0055089 |
IMOBMPAE_00065 |
62655 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
312C>T |
Leu104Leu |
M0055090 |
IMOBMPAE_00065 |
62706 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
363G>A |
Ala121Ala |
M0055091 |
IMOBMPAE_00065 |
63006 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
663T>C |
Cys221Cys |
M0055092 |
IMOBMPAE_00065 |
63021 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
678G>A |
Arg226Arg |
M0055093 |
IMOBMPAE_00065 |
63024 |
11 |
Skin |
0.39 |
protein_coding |
synonymous_variant |
LOW |
681T>C |
Ile227Ile |
M0055094 |
IMOBMPAE_00065 |
63030 |
11 |
Skin |
0.39 |
protein_coding |
synonymous_variant |
LOW |
687T>C |
Val229Val |
M0055095 |
IMOBMPAE_00065 |
63063 |
11 |
Skin |
0.39 |
protein_coding |
synonymous_variant |
LOW |
720A>T |
Ala240Ala |
M0055096 |
IMOBMPAE_00065 |
63066 |
11 |
Skin |
0.39 |
protein_coding |
synonymous_variant |
LOW |
723C>T |
Tyr241Tyr |
M0055097 |
IMOBMPAE_00065 |
63075 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
732C>T |
Ile244Ile |
M0055098 |
IMOBMPAE_00065 |
63081 |
11 |
Skin |
0.39 |
protein_coding |
synonymous_variant |
LOW |
738T>C |
Leu246Leu |
M0055099 |
IMOBMPAE_00065 |
63093 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
750A>C |
Ala250Ala |
M0055100 |
IMOBMPAE_00065 |
63114 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
771A>G |
Pro257Pro |
M0055101 |
IMOBMPAE_00065 |
63126 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
783T>C |
Asn261Asn |
M0055102 |
IMOBMPAE_00065 |
63177 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
834T>C |
Phe278Phe |
M0055103 |
IMOBMPAE_00065 |
63180 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
837C>A |
Val279Val |
M0055104 |
IMOBMPAE_00065 |
63204 |
11 |
Skin |
0.39 |
protein_coding |
synonymous_variant |
LOW |
861G>C |
Gly287Gly |
M0055105 |
IMOBMPAE_00065 |
63219 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
876T>A |
Ala292Ala |
M0055106 |
IMOBMPAE_00065 |
63222 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
879A>G |
Ser293Ser |
M0055107 |
IMOBMPAE_00065 |
63225 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
882C>T |
Gly294Gly |
M0055108 |
IMOBMPAE_00065 |
63228 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
885C>T |
Tyr295Tyr |
M0055109 |
IMOBMPAE_00065 |
63240 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
897C>T |
Ile299Ile |
M0055110 |
IMOBMPAE_00065 |
63324 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
981C>T |
Ile327Ile |
M0055111 |
IMOBMPAE_00065 |
63360 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
1017C>T |
Val339Val |
M0055112 |
IMOBMPAE_00065 |
63375 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
1032T>C |
Val344Val |
M0055113 |
IMOBMPAE_00065 |
63408 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
1065A>C |
Val355Val |
M0055114 |
IMOBMPAE_00065 |
63447 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
1104A>C |
Thr368Thr |
M0055115 |
IMOBMPAE_00065 |
63542 |
7 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
1199T>C |
Val400Ala |
M0055116 |
IMOBMPAE_00065 |
63588 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1245A>G |
Lys415Lys |
M0055117 |
IMOBMPAE_00066 |
63600 |
3 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-123G>A |
None |
M0055118 |
IMOBMPAE_00066 |
63639 |
6 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-84C>G |
None |
M0055119 |
IMOBMPAE_00066 |
63729 |
11 |
Skin |
0.39 |
protein_coding |
missense_variant |
MODERATE |
7T>A |
Leu3Ile |
M0055120 |
IMOBMPAE_00066 |
63755 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
33A>G |
Lys11Lys |
M0055121 |
IMOBMPAE_00066 |
63774 |
11 |
Skin |
0.39 |
protein_coding |
missense_variant |
MODERATE |
52G>C |
Val18Leu |
M0055122 |
IMOBMPAE_00066 |
63878 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
156T>C |
Gly52Gly |
M0055123 |
IMOBMPAE_00066 |
63887 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
165C>T |
Val55Val |
M0055124 |
IMOBMPAE_00066 |
63935 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
213G>A |
Lys71Lys |
M0055125 |
IMOBMPAE_00066 |
63959 |
11 |
Skin |
0.39 |
protein_coding |
synonymous_variant |
LOW |
237T>C |
Arg79Arg |
M0055126 |
IMOBMPAE_00066 |
63965 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
243T>C |
Phe81Phe |
M0055127 |
IMOBMPAE_00066 |
64121 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
399C>T |
Ala133Ala |
M0055128 |
IMOBMPAE_00066 |
64136 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
414G>C |
Leu138Leu |
M0055129 |
IMOBMPAE_00066 |
64166 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
444C>T |
Tyr148Tyr |
M0055130 |
IMOBMPAE_00066 |
64175 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
453G>A |
Gln151Gln |
M0055131 |
IMOBMPAE_00066 |
64178 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
456C>G |
Thr152Thr |
M0055132 |
IMOBMPAE_00066 |
64184 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
462G>C |
Thr154Thr |
M0055133 |
IMOBMPAE_00066 |
64260 |
10 |
Skin |
0.36 |
protein_coding |
missense_variant |
MODERATE |
538G>C |
Ala180Pro |
M0055134 |
IMOBMPAE_00066 |
64298 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
576C>T |
Asn192Asn |
M0055135 |
IMOBMPAE_00067 |
64402 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
36T>C |
Val12Val |
M0055136 |
IMOBMPAE_00067 |
64426 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
60G>A |
Leu20Leu |
M0055137 |
IMOBMPAE_00067 |
64435 |
10 |
Skin |
0.36 |
protein_coding |
missense_variant |
MODERATE |
69A>G |
Ile23Met |
M0055138 |
IMOBMPAE_00067 |
64444 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
78A>C |
Leu26Leu |
M0055139 |
IMOBMPAE_00067 |
64445 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
79A>G |
Ile27Val |
M0055140 |
IMOBMPAE_00067 |
64532 |
10 |
Skin |
0.36 |
protein_coding |
missense_variant |
MODERATE |
166A>T |
Asn56Tyr |
M0055141 |
IMOBMPAE_00067 |
64567 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
201A>G |
Glu67Glu |
M0055142 |
IMOBMPAE_00067 |
64570 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
204A>G |
Glu68Glu |
M0055143 |
IMOBMPAE_00067 |
64577 |
10 |
Skin |
0.36 |
protein_coding |
missense_variant |
MODERATE |
211C>A |
Leu71Ile |
M0055144 |
IMOBMPAE_00067 |
64579 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
213A>G |
Leu71Leu |
M0055145 |
IMOBMPAE_00067 |
64582 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
216C>T |
Leu72Leu |
M0055146 |
IMOBMPAE_00067 |
64587 |
10 |
Skin |
0.36 |
protein_coding |
missense_variant |
MODERATE |
221G>A |
Gly74Glu |
M0055147 |
IMOBMPAE_00067 |
64600 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
234T>G |
Arg78Arg |
M0055148 |
IMOBMPAE_00067 |
64603 |
10 |
Skin |
0.36 |
protein_coding |
missense_variant |
MODERATE |
237A>C |
Gln79His |
M0055149 |
IMOBMPAE_00067 |
64607 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
241T>C |
Leu81Leu |
M0055150 |
IMOBMPAE_00068 |
64933 |
10 |
Skin |
0.36 |
protein_coding |
missense_variant |
MODERATE |
266G>C |
Cys89Ser |
M0055151 |
IMOBMPAE_00068 |
65213 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
546A>G |
Val182Val |
M0055152 |
IMOBMPAE_00068 |
65243 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
576A>G |
Pro192Pro |
M0055153 |
IMOBMPAE_00068 |
65276 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
609A>G |
Lys203Lys |
M0055154 |
IMOBMPAE_00068 |
65297 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
630G>A |
Lys210Lys |
M0055155 |
IMOBMPAE_00068 |
65298 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
631T>C |
Leu211Leu |
M0055156 |
IMOBMPAE_00068 |
65414 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
747T>C |
Asn249Asn |
M0055157 |
IMOBMPAE_00068 |
65450 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
783G>A |
Arg261Arg |
M0055158 |
IMOBMPAE_00068 |
65624 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
957G>T |
Gly319Gly |
M0055159 |
IMOBMPAE_00068 |
65691 |
10 |
Skin |
0.36 |
protein_coding |
missense_variant |
MODERATE |
1024G>A |
Ala342Thr |
M0055160 |
IMOBMPAE_00069 |
66261 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
378C>T |
Asn126Asn |
M0055161 |
IMOBMPAE_00069 |
66264 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
381T>C |
Ile127Ile |
M0055162 |
IMOBMPAE_00069 |
66291 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
408A>G |
Pro136Pro |
M0055163 |
IMOBMPAE_00069 |
66301 |
6 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
418T>A |
Tyr140Asn |
M0055164 |
IMOBMPAE_00069 |
66321 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
438C>T |
Asn146Asn |
M0055165 |
IMOBMPAE_00069 |
66342 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
459G>A |
Ser153Ser |
M0055166 |
IMOBMPAE_00069 |
66451 |
7 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
568C>A |
Leu190Met |
M0055167 |
IMOBMPAE_00069 |
66516 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
633T>A |
Ile211Ile |
M0055168 |
IMOBMPAE_00069 |
66705 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
822C>T |
Ile274Ile |
M0055169 |
IMOBMPAE_00070 |
66877 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
66T>A |
Val22Val |
M0055170 |
IMOBMPAE_00070 |
66880 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
69G>A |
Ala23Ala |
M0055171 |
IMOBMPAE_00070 |
66881 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
70T>C |
Leu24Leu |
M0055172 |
IMOBMPAE_00070 |
67033 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
222G>A |
Arg74Arg |
M0055173 |
IMOBMPAE_00070 |
67036 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
225T>C |
Ala75Ala |
M0055174 |
IMOBMPAE_00070 |
67234 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
423A>T |
Gly141Gly |
M0055175 |
IMOBMPAE_00070 |
67237 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
426C>T |
Ala142Ala |
M0055176 |
IMOBMPAE_00070 |
67291 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
480A>G |
Val160Val |
M0055177 |
IMOBMPAE_00070 |
67303 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
492C>T |
Ser164Ser |
M0055178 |
IMOBMPAE_00070 |
67306 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
495T>C |
Phe165Phe |
M0055179 |
IMOBMPAE_00070 |
67324 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
513C>T |
Leu171Leu |
M0055180 |
IMOBMPAE_00070 |
67333 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
522T>C |
Asn174Asn |
M0055181 |
IMOBMPAE_00070 |
67384 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
573T>C |
Asn191Asn |
M0055182 |
IMOBMPAE_00070 |
67394 |
7 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
583A>G |
Ile195Val |
M0055183 |
IMOBMPAE_00070 |
67408 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
597T>A |
Pro199Pro |
M0055184 |
IMOBMPAE_00070 |
67432 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
621T>C |
Gly207Gly |
M0055185 |
IMOBMPAE_00070 |
67438 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
627T>G |
Pro209Pro |
M0055186 |
IMOBMPAE_00070 |
67456 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
645C>T |
Phe215Phe |
M0055187 |
IMOBMPAE_00070 |
67459 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
648C>T |
Gly216Gly |
M0055188 |
IMOBMPAE_00070 |
67462 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
651C>T |
Ile217Ile |
M0055189 |
IMOBMPAE_00070 |
67552 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
741C>T |
Tyr247Tyr |
M0055190 |
IMOBMPAE_00070 |
67642 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
831A>G |
Arg277Arg |
M0055191 |
IMOBMPAE_00070 |
67651 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
840C>G |
Pro280Pro |
M0055192 |
IMOBMPAE_00070 |
67705 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
894A>G |
Ser298Ser |
M0055193 |
IMOBMPAE_00070 |
67735 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
924T>C |
Ser308Ser |
M0055194 |
IMOBMPAE_00070 |
67736 |
9 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
925G>A |
Gly309Ser |
M0055195 |
IMOBMPAE_00070 |
67744 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
933A>T |
Gly311Gly |
M0055196 |
IMOBMPAE_00070 |
67747 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
936T>C |
Gly312Gly |
M0055197 |
IMOBMPAE_00070 |
67750 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
939C>T |
Gly313Gly |
M0055198 |
IMOBMPAE_00070 |
67753 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
942A>G |
Ser314Ser |
M0055199 |
IMOBMPAE_00070 |
67756 |
9 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
945T>G |
Asp315Glu |
M0055200 |
IMOBMPAE_00070 |
67765 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
954T>C |
Phe318Phe |
M0055201 |
IMOBMPAE_00070 |
67789 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
978A>G |
Leu326Leu |
M0055202 |
IMOBMPAE_00070 |
67804 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
993T>C |
Tyr331Tyr |
M0055203 |
IMOBMPAE_00070 |
67978 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1167T>C |
Gly389Gly |
M0055204 |
IMOBMPAE_00070 |
68008 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
1197T>A |
Ser399Ser |
M0055205 |
IMOBMPAE_00070 |
68038 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1227G>A |
Val409Val |
M0055206 |
IMOBMPAE_00070 |
68086 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1275A>G |
Pro425Pro |
M0055207 |
IMOBMPAE_00070 |
68131 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
1320C>T |
Asn440Asn |
M0055208 |
IMOBMPAE_00070 |
68153 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1342C>T |
Leu448Leu |
M0055209 |
IMOBMPAE_00070 |
68164 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1353A>T |
Thr451Thr |
M0055210 |
IMOBMPAE_00070 |
68167 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1356A>G |
Leu452Leu |
M0055211 |
IMOBMPAE_00070 |
68171 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1360T>C |
Leu454Leu |
M0055212 |
IMOBMPAE_00070 |
68182 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
1371T>C |
Ser457Ser |
M0055213 |
IMOBMPAE_00070 |
68186 |
8 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
1375T>C |
Tyr459His |
M0055214 |
IMOBMPAE_00070 |
68191 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
1380C>T |
Asn460Asn |
M0055215 |
IMOBMPAE_00070 |
68192 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
1381C>T |
Leu461Leu |
M0055216 |
IMOBMPAE_00070 |
68196 |
8 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
1385T>C |
Leu462Pro |
M0055217 |
IMOBMPAE_00070 |
68197 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
1386G>T |
Leu462Leu |
M0055218 |
IMOBMPAE_00070 |
68224 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1413G>C |
Pro471Pro |
M0055219 |
IMOBMPAE_00070 |
68230 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1419T>C |
Ile473Ile |
M0055220 |
IMOBMPAE_00070 |
68308 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
1497C>A |
Ile499Ile |
M0055221 |
IMOBMPAE_00070 |
68518 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
1707T>A |
Pro569Pro |
M0055222 |
IMOBMPAE_00070 |
68524 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
1713C>A |
Gly571Gly |
M0055223 |
IMOBMPAE_00070 |
68608 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
1797G>C |
Ser599Ser |
M0055224 |
IMOBMPAE_00070 |
68611 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
1800A>C |
Ala600Ala |
M0055225 |
IMOBMPAE_00071 |
68812 |
10 |
Skin |
0.36 |
protein_coding |
missense_variant |
MODERATE |
17G>C |
Arg6Pro |
M0055226 |
IMOBMPAE_00071 |
68843 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
48A>C |
Gly16Gly |
M0055227 |
IMOBMPAE_00071 |
68861 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
66T>G |
Ala22Ala |
M0055228 |
IMOBMPAE_00071 |
68870 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
75C>T |
Asn25Asn |
M0055229 |
IMOBMPAE_00071 |
68931 |
9 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
136A>G |
Thr46Ala |
M0055230 |
IMOBMPAE_00071 |
68938 |
9 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
143G>T |
Arg48Ile |
M0055231 |
IMOBMPAE_00071 |
68939 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
144A>G |
Arg48Arg |
M0055232 |
IMOBMPAE_00071 |
68984 |
9 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
189T>A |
Ser63Arg |
M0055233 |
IMOBMPAE_00071 |
68993 |
9 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
198A>T |
Lys66Asn |
M0055234 |
IMOBMPAE_00071 |
69038 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
243T>C |
Asp81Asp |
M0055235 |
IMOBMPAE_00071 |
69059 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
264A>G |
Thr88Thr |
M0055236 |
IMOBMPAE_00071 |
69179 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
384C>T |
Thr128Thr |
M0055237 |
IMOBMPAE_00071 |
69201 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
406A>C |
Arg136Arg |
M0055238 |
IMOBMPAE_00071 |
69206 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
411G>A |
Ala137Ala |
M0055239 |
IMOBMPAE_00071 |
69207 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
412T>C |
Leu138Leu |
M0055240 |
IMOBMPAE_00071 |
69212 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
417G>T |
Ser139Ser |
M0055241 |
IMOBMPAE_00071 |
69314 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
519T>C |
Ile173Ile |
M0055242 |
IMOBMPAE_00071 |
69328 |
9 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
533A>C |
Asn178Thr |
M0055243 |
IMOBMPAE_00071 |
69359 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
564T>C |
Gly188Gly |
M0055244 |
IMOBMPAE_00071 |
69384 |
9 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
589T>C |
Ser197Pro |
M0055245 |
IMOBMPAE_00071 |
69503 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
708T>A |
Ile236Ile |
M0055246 |
IMOBMPAE_00071 |
69508 |
6 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
713G>A |
Arg238Lys |
M0055247 |
IMOBMPAE_00071 |
69563 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
768A>G |
Glu256Glu |
M0055248 |
IMOBMPAE_00072 |
70210 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
567G>A |
Glu189Glu |
M0055249 |
IMOBMPAE_00072 |
70229 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
586G>T |
Ala196Ser |
M0055250 |
IMOBMPAE_00072 |
70245 |
5 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
602T>A |
Val201Asp |
M0055251 |
IMOBMPAE_00072 |
70255 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
612T>G |
Val204Val |
M0055252 |
IMOBMPAE_00073 |
70477 |
10 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
48T>C |
Asn16Asn |
M0055253 |
IMOBMPAE_00074 |
70552 |
6 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
8A>G |
Lys3Arg |
M0055254 |
IMOBMPAE_00074 |
70601 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
57T>C |
Tyr19Tyr |
M0055255 |
IMOBMPAE_00074 |
70602 |
9 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
58C>G |
Gln20Glu |
M0055256 |
IMOBMPAE_00074 |
70604 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
60G>A |
Gln20Gln |
M0055257 |
IMOBMPAE_00074 |
70616 |
9 |
Skin |
0.32 |
protein_coding |
synonymous_variant |
LOW |
72T>C |
Asn24Asn |
M0055258 |
IMOBMPAE_00074 |
70621 |
9 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
77A>G |
Glu26Gly |
M0055259 |
IMOBMPAE_00074 |
70755 |
7 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
211G>A |
Val71Ile |
M0055260 |
IMOBMPAE_00074 |
70761 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
217C>A |
Arg73Arg |
M0055261 |
IMOBMPAE_00074 |
70763 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
219G>A |
Arg73Arg |
M0055262 |
IMOBMPAE_00074 |
70778 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
234T>C |
Asn78Asn |
M0055263 |
IMOBMPAE_00074 |
70781 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
237G>A |
Lys79Lys |
M0055264 |
IMOBMPAE_00074 |
70782 |
7 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
238G>T |
Gly80Trp |
M0055265 |
IMOBMPAE_00074 |
70783 |
7 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
239G>C |
Gly80Ala |
M0055266 |
IMOBMPAE_00074 |
70784 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
240G>A |
Gly80Gly |
M0055267 |
IMOBMPAE_00074 |
70785 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
241T>C |
Leu81Leu |
M0055268 |
IMOBMPAE_00074 |
70799 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
255T>C |
Ala85Ala |
M0055269 |
IMOBMPAE_00074 |
70829 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
285A>T |
Val95Val |
M0055270 |
IMOBMPAE_00074 |
70832 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
288T>C |
Ala96Ala |
M0055271 |
IMOBMPAE_00074 |
70850 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
306G>A |
Leu102Leu |
M0055272 |
IMOBMPAE_00074 |
70916 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
372G>A |
Gln124Gln |
M0055273 |
IMOBMPAE_00074 |
70943 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
399T>G |
Ser133Ser |
M0055274 |
IMOBMPAE_00074 |
70946 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
402G>A |
Ala134Ala |
M0055275 |
IMOBMPAE_00074 |
70952 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
408T>G |
Val136Val |
M0055276 |
IMOBMPAE_00074 |
70965 |
7 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
421A>T |
Met141Leu |
M0055277 |
IMOBMPAE_00074 |
70983 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
439C>A |
Arg147Arg |
M0055278 |
IMOBMPAE_00074 |
70985 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
441G>A |
Arg147Arg |
M0055279 |
IMOBMPAE_00074 |
70994 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
450A>T |
Pro150Pro |
M0055280 |
IMOBMPAE_00074 |
71057 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
513G>A |
Arg171Arg |
M0055281 |
IMOBMPAE_00074 |
71058 |
7 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
514A>T |
Met172Leu |
M0055282 |
IMOBMPAE_00074 |
71069 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
525A>G |
Glu175Glu |
M0055283 |
IMOBMPAE_00074 |
71093 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
549T>C |
Asn183Asn |
M0055284 |
IMOBMPAE_00074 |
71094 |
7 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
550A>T |
Thr184Ser |
M0055285 |
IMOBMPAE_00074 |
71096 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
552G>T |
Thr184Thr |
M0055286 |
IMOBMPAE_00074 |
71099 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
555C>G |
Gly185Gly |
M0055287 |
IMOBMPAE_00074 |
71159 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
615C>T |
Ser205Ser |
M0055288 |
IMOBMPAE_00074 |
71168 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
624C>T |
Asp208Asp |
M0055289 |
IMOBMPAE_00074 |
71169 |
7 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
625A>C |
Asn209His |
M0055290 |
IMOBMPAE_00074 |
71173 |
7 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
629G>T |
Arg210Met |
M0055291 |
IMOBMPAE_00074 |
71177 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
633T>C |
Asp211Asp |
M0055292 |
IMOBMPAE_00074 |
71179 |
7 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
635T>C |
Ile212Thr |
M0055293 |
IMOBMPAE_00074 |
71243 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
699A>G |
Lys233Lys |
M0055294 |
IMOBMPAE_00074 |
71249 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
705A>G |
Val235Val |
M0055295 |
IMOBMPAE_00074 |
71255 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
711T>A |
Val237Val |
M0055296 |
IMOBMPAE_00074 |
71258 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
714C>A |
Ser238Ser |
M0055297 |
IMOBMPAE_00074 |
71261 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
717C>T |
Asn239Asn |
M0055298 |
IMOBMPAE_00074 |
71264 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
720T>C |
Tyr240Tyr |
M0055299 |
IMOBMPAE_00074 |
71312 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
768C>T |
Ser256Ser |
M0055300 |
IMOBMPAE_00074 |
71342 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
798G>A |
Thr266Thr |
M0055301 |
IMOBMPAE_00077 |
73410 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
132C>T |
Gly44Gly |
M0055302 |
IMOBMPAE_00077 |
73431 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
153T>C |
Phe51Phe |
M0055303 |
IMOBMPAE_00077 |
73435 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
157T>C |
Leu53Leu |
M0055304 |
IMOBMPAE_00077 |
73437 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
159G>A |
Leu53Leu |
M0055305 |
IMOBMPAE_00077 |
73440 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
162T>G |
Ser54Ser |
M0055306 |
IMOBMPAE_00077 |
73443 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
165G>A |
Lys55Lys |
M0055307 |
IMOBMPAE_00077 |
73462 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
184G>C |
Glu62Gln |
M0055308 |
IMOBMPAE_00077 |
73467 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
189T>G |
Ile63Met |
M0055309 |
IMOBMPAE_00077 |
73508 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
230A>G |
Lys77Arg |
M0055310 |
IMOBMPAE_00077 |
73518 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
240C>T |
Tyr80Tyr |
M0055311 |
IMOBMPAE_00077 |
73521 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
243C>T |
Tyr81Tyr |
M0055312 |
IMOBMPAE_00077 |
73549 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
271C>G |
Gln91Glu |
M0055313 |
IMOBMPAE_00077 |
73563 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
285A>T |
Gly95Gly |
M0055314 |
IMOBMPAE_00077 |
73611 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
333C>G |
Leu111Leu |
M0055315 |
IMOBMPAE_00077 |
73695 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
417T>C |
Leu139Leu |
M0055316 |
IMOBMPAE_00077 |
73698 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
420A>G |
Leu140Leu |
M0055317 |
IMOBMPAE_00077 |
73702 |
5 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
424A>C |
Asn142His |
M0055318 |
IMOBMPAE_00077 |
73703 |
5 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
425A>G |
Asn142Ser |
M0055319 |
IMOBMPAE_00077 |
73704 |
5 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
426T>A |
Asn142Lys |
M0055320 |
IMOBMPAE_00077 |
73713 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
435C>T |
Tyr145Tyr |
M0055321 |
IMOBMPAE_00077 |
73743 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
465A>T |
Thr155Thr |
M0055322 |
IMOBMPAE_00077 |
73767 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
489T>C |
Pro163Pro |
M0055323 |
IMOBMPAE_00077 |
73779 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
501T>A |
Ile167Ile |
M0055324 |
IMOBMPAE_00077 |
73785 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
507T>G |
Pro169Pro |
M0055325 |
IMOBMPAE_00077 |
73788 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
510T>C |
Tyr170Tyr |
M0055326 |
IMOBMPAE_00077 |
73791 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
513G>T |
Ser171Ser |
M0055327 |
IMOBMPAE_00077 |
73794 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
516C>T |
Leu172Leu |
M0055328 |
IMOBMPAE_00077 |
73803 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
525C>T |
His175His |
M0055329 |
IMOBMPAE_00077 |
73833 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
555A>G |
Glu185Glu |
M0055330 |
IMOBMPAE_00077 |
73875 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
597T>C |
Ser199Ser |
M0055331 |
IMOBMPAE_00078 |
74140 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
183T>C |
Gly61Gly |
M0055332 |
IMOBMPAE_00078 |
74158 |
6 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
201G>C |
Leu67Phe |
M0055333 |
IMOBMPAE_00078 |
74162 |
6 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
205C>T |
His69Tyr |
M0055334 |
IMOBMPAE_00078 |
74441 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
484G>T |
Val162Leu |
M0055335 |
IMOBMPAE_00078 |
74542 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
585A>G |
Gln195Gln |
M0055336 |
IMOBMPAE_00078 |
74547 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
590T>C |
Val197Ala |
M0055337 |
IMOBMPAE_00078 |
74586 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
629G>A |
Gly210Glu |
M0055338 |
IMOBMPAE_00078 |
75484 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1527G>A |
Thr509Thr |
M0055339 |
IMOBMPAE_00078 |
75719 |
10 |
Skin |
0.36 |
protein_coding |
missense_variant |
MODERATE |
1762A>G |
Asn588Asp |
M0055340 |
IMOBMPAE_00078 |
75812 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1855C>G |
Gln619Glu |
M0055341 |
IMOBMPAE_00078 |
75817 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1860G>A |
Ala620Ala |
M0055342 |
IMOBMPAE_00078 |
76045 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
2088C>A |
Ile696Ile |
M0055343 |
IMOBMPAE_00078 |
76048 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
2091G>A |
Lys697Lys |
M0055344 |
IMOBMPAE_00078 |
76099 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
2142A>G |
Thr714Thr |
M0055345 |
IMOBMPAE_00078 |
76111 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
2154T>C |
Asn718Asn |
M0055346 |
IMOBMPAE_00078 |
76117 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
2160C>T |
Pro720Pro |
M0055347 |
IMOBMPAE_00078 |
76219 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
2262C>T |
Gly754Gly |
M0055348 |
IMOBMPAE_00078 |
76243 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
2286T>C |
Tyr762Tyr |
M0055349 |
IMOBMPAE_00078 |
76246 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
2289T>A |
Ala763Ala |
M0055350 |
IMOBMPAE_00078 |
76252 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
2295G>A |
Gly765Gly |
M0055351 |
IMOBMPAE_00078 |
76262 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
2305G>T |
Ala769Ser |
M0055352 |
IMOBMPAE_00078 |
76276 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
2319A>G |
Gln773Gln |
M0055353 |
IMOBMPAE_00078 |
76288 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
2331T>C |
Asp777Asp |
M0055354 |
IMOBMPAE_00078 |
76344 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
2387C>T |
Ala796Val |
M0055355 |
IMOBMPAE_00078 |
76352 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
2395G>C |
Glu799Gln |
M0055356 |
IMOBMPAE_00078 |
76357 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
2400C>T |
Ser800Ser |
M0055357 |
IMOBMPAE_00078 |
76366 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
2409A>G |
Pro803Pro |
M0055358 |
IMOBMPAE_00078 |
76372 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
2415A>T |
Pro805Pro |
M0055359 |
IMOBMPAE_00078 |
76378 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
2421T>C |
Asn807Asn |
M0055360 |
IMOBMPAE_00078 |
76441 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
2484G>A |
Lys828Lys |
M0055361 |
IMOBMPAE_00078 |
76450 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
2493G>A |
Glu831Glu |
M0055362 |
IMOBMPAE_00078 |
76757 |
5 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
2800A>G |
Ile934Val |
M0055363 |
IMOBMPAE_00078 |
76762 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
2805A>G |
Pro935Pro |
M0055364 |
IMOBMPAE_00078 |
77047 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
3090A>C |
Val1030Val |
M0055365 |
IMOBMPAE_00078 |
77051 |
5 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
3094A>G |
Ile1032Val |
M0055366 |
IMOBMPAE_00078 |
77059 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
3102C>G |
Gly1034Gly |
M0055367 |
IMOBMPAE_00078 |
77063 |
5 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
3106C>T |
Leu1036Phe |
M0055368 |
IMOBMPAE_00078 |
77065 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
3108T>G |
Leu1036Leu |
M0055369 |
IMOBMPAE_00078 |
77068 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
3111A>T |
Gly1037Gly |
M0055370 |
IMOBMPAE_00078 |
77074 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
3117T>C |
Asp1039Asp |
M0055371 |
IMOBMPAE_00078 |
77086 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
3129T>C |
Ser1043Ser |
M0055372 |
IMOBMPAE_00078 |
77113 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
3156T>C |
Ile1052Ile |
M0055373 |
IMOBMPAE_00078 |
77116 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
3159C>T |
Ser1053Ser |
M0055374 |
IMOBMPAE_00078 |
77159 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
3202A>G |
Asn1068Asp |
M0055375 |
IMOBMPAE_00078 |
77323 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
3366G>C |
Gly1122Gly |
M0055376 |
IMOBMPAE_00078 |
78685 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
4728T>C |
Asn1576Asn |
M0055377 |
IMOBMPAE_00078 |
78740 |
8 |
Skin |
0.29 |
protein_coding |
stop_lost&splice_region_variant |
HIGH |
4783T>C |
Ter1595Glnext*? |
M0055378 |
IMOBMPAE_00071 |
68977 |
7 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
182T>A |
Ile61Lys |
M0055379 |
IMOBMPAE_00071 |
68981 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
186G>A |
Lys62Lys |
M0055380 |
IMOBMPAE_00071 |
68983 |
7 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
188G>T |
Ser63Ile |
M0055381 |
IMOBMPAE_00071 |
69011 |
7 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
216C>G |
Asn72Lys |
M0055382 |
IMOBMPAE_00071 |
69153 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
358G>T |
Ala120Ser |
M0055383 |
IMOBMPAE_00071 |
69584 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
789C>T |
Pro263Pro |
M0055384 |
IMOBMPAE_00071 |
69602 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
807G>A |
Glu269Glu |
M0055385 |
IMOBMPAE_00072 |
69796 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
153C>T |
Thr51Thr |
M0055386 |
IMOBMPAE_00074 |
70722 |
7 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
178G>A |
Asp60Asn |
M0055387 |
IMOBMPAE_00056 |
54946 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
28T>A |
Leu10Met |
M0055388 |
IMOBMPAE_00056 |
54949 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
31A>C |
Ile11Leu |
M0055389 |
IMOBMPAE_00056 |
55149 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
231C>T |
Ser77Ser |
M0055390 |
IMOBMPAE_00057 |
55734 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
51C>A |
Ala17Ala |
M0055391 |
IMOBMPAE_00057 |
55735 |
7 |
Skin |
0.25 |
protein_coding |
missense_variant |
MODERATE |
52A>G |
Ile18Val |
M0055392 |
IMOBMPAE_00057 |
55739 |
5 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
56T>C |
Val19Ala |
M0055393 |
IMOBMPAE_00057 |
55744 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
61C>T |
Leu21Leu |
M0055394 |
IMOBMPAE_00057 |
55803 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
120C>T |
Ala40Ala |
M0055395 |
IMOBMPAE_00057 |
55815 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
132A>C |
Ile44Ile |
M0055396 |
IMOBMPAE_00057 |
55884 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
201C>T |
Gly67Gly |
M0055397 |
IMOBMPAE_00057 |
55887 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
204A>C |
Leu68Leu |
M0055398 |
IMOBMPAE_00057 |
55917 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
234C>T |
Asp78Asp |
M0055399 |
IMOBMPAE_00057 |
55950 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
267C>A |
Gly89Gly |
M0055400 |
IMOBMPAE_00058 |
56058 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
52T>C |
Leu18Leu |
M0055401 |
IMOBMPAE_00058 |
56266 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
260A>G |
Lys87Arg |
M0055402 |
IMOBMPAE_00059 |
56342 |
3 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-33G>T |
None |
M0055403 |
IMOBMPAE_00059 |
56353 |
5 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-22T>C |
None |
M0055404 |
IMOBMPAE_00059 |
56569 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
195C>T |
Val65Val |
M0055405 |
IMOBMPAE_00059 |
57769 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1395A>C |
Gly465Gly |
M0055406 |
IMOBMPAE_00060 |
57996 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
72G>A |
Gly24Gly |
M0055407 |
IMOBMPAE_00060 |
58137 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
213T>C |
Phe71Phe |
M0055408 |
IMOBMPAE_00060 |
58207 |
6 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
283G>A |
Val95Met |
M0055409 |
IMOBMPAE_00060 |
58209 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
285G>C |
Val95Val |
M0055410 |
IMOBMPAE_00060 |
58212 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
288C>T |
Asn96Asn |
M0055411 |
IMOBMPAE_00060 |
58353 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
429A>G |
Thr143Thr |
M0055412 |
IMOBMPAE_00060 |
58359 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
435G>A |
Glu145Glu |
M0055413 |
IMOBMPAE_00060 |
59082 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1158C>T |
Gly386Gly |
M0055414 |
IMOBMPAE_00060 |
59112 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1188C>A |
Val396Val |
M0055415 |
IMOBMPAE_00060 |
59340 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1416A>C |
Pro472Pro |
M0055416 |
IMOBMPAE_00061 |
59704 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
276T>C |
Ile92Ile |
M0055417 |
IMOBMPAE_00061 |
59716 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
288A>G |
Glu96Glu |
M0055418 |
IMOBMPAE_00061 |
59938 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
510C>T |
Asn170Asn |
M0055419 |
IMOBMPAE_00062 |
60492 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
384C>T |
Ser128Ser |
M0055420 |
IMOBMPAE_00061 |
59668 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
240C>A |
Gly80Gly |
M0055421 |
IMOBMPAE_00061 |
59677 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
249A>G |
Glu83Glu |
M0055422 |
IMOBMPAE_00061 |
59683 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
255T>G |
Ser85Ser |
M0055423 |
IMOBMPAE_00061 |
59689 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
261A>T |
Thr87Thr |
M0055424 |
IMOBMPAE_00061 |
59863 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
435C>T |
Asp145Asp |
M0055425 |
IMOBMPAE_00062 |
60348 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
240G>A |
Ala80Ala |
M0055426 |
IMOBMPAE_00063 |
61137 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
304G>C |
Glu102Gln |
M0055427 |
IMOBMPAE_00063 |
61286 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
453C>T |
Asp151Asp |
M0055428 |
IMOBMPAE_00063 |
61355 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
522T>C |
Asn174Asn |
M0055429 |
IMOBMPAE_00064 |
61520 |
3 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-22A>G |
None |
M0055430 |
IMOBMPAE_00064 |
61661 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
120G>C |
Arg40Arg |
M0055431 |
IMOBMPAE_00064 |
61922 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
381C>A |
Ala127Ala |
M0055432 |
IMOBMPAE_00064 |
61925 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
384C>T |
Asp128Asp |
M0055433 |
IMOBMPAE_00064 |
61928 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
387C>T |
Pro129Pro |
M0055434 |
IMOBMPAE_00064 |
61935 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
394C>T |
Leu132Leu |
M0055435 |
IMOBMPAE_00064 |
62241 |
8 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
700C>A |
Leu234Met |
M0055436 |
IMOBMPAE_00065 |
62571 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
228A>T |
Ala76Ala |
M0055437 |
IMOBMPAE_00065 |
62572 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
229T>C |
Leu77Leu |
M0055438 |
IMOBMPAE_00065 |
62586 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
243C>T |
Gly81Gly |
M0055439 |
IMOBMPAE_00065 |
62682 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
339G>T |
Ser113Ser |
M0055440 |
IMOBMPAE_00065 |
62733 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
390C>T |
Gly130Gly |
M0055441 |
IMOBMPAE_00065 |
62736 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
393C>A |
Ile131Ile |
M0055442 |
IMOBMPAE_00065 |
62847 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
504T>C |
Ala168Ala |
M0055443 |
IMOBMPAE_00065 |
63156 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
813G>T |
Met271Ile |
M0055444 |
IMOBMPAE_00065 |
63421 |
8 |
Skin |
0.29 |
protein_coding |
missense_variant |
MODERATE |
1078T>G |
Ser360Ala |
M0055445 |
IMOBMPAE_00065 |
63465 |
7 |
Skin |
0.25 |
protein_coding |
synonymous_variant |
LOW |
1122C>A |
Ala374Ala |
M0055446 |
IMOBMPAE_00065 |
63471 |
8 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
1128A>T |
Ser376Ser |
M0055447 |
IMOBMPAE_00065 |
63483 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1140T>A |
Ala380Ala |
M0055448 |
IMOBMPAE_00065 |
63489 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1146G>A |
Leu382Leu |
M0055449 |
IMOBMPAE_00065 |
63492 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1149T>C |
Ala383Ala |
M0055450 |
IMOBMPAE_00065 |
63495 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1152A>T |
Ala384Ala |
M0055451 |
IMOBMPAE_00065 |
63501 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1158C>A |
Thr386Thr |
M0055452 |
IMOBMPAE_00065 |
63522 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1179T>G |
Ala393Ala |
M0055453 |
IMOBMPAE_00068 |
65306 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
639T>C |
Ala213Ala |
M0055454 |
IMOBMPAE_00068 |
65386 |
5 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
719A>G |
Asn240Ser |
M0055455 |
IMOBMPAE_00068 |
65390 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
723C>T |
Phe241Phe |
M0055456 |
IMOBMPAE_00068 |
65393 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
726T>C |
Ile242Ile |
M0055457 |
IMOBMPAE_00068 |
65507 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
840C>T |
Tyr280Tyr |
M0055458 |
IMOBMPAE_00068 |
65510 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
843A>T |
Gly281Gly |
M0055459 |
IMOBMPAE_00068 |
65513 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
846A>G |
Gln282Gln |
M0055460 |
IMOBMPAE_00068 |
65528 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
861G>A |
Ser287Ser |
M0055461 |
IMOBMPAE_00068 |
65585 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
918C>T |
Pro306Pro |
M0055462 |
IMOBMPAE_00068 |
65730 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
1063A>T |
Ile355Leu |
M0055463 |
IMOBMPAE_00068 |
65756 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1089C>T |
Thr363Thr |
M0055464 |
IMOBMPAE_00068 |
65798 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1131A>G |
Lys377Lys |
M0055465 |
IMOBMPAE_00069 |
65874 |
7 |
Skin |
0.25 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-10A>C |
None |
M0055466 |
IMOBMPAE_00069 |
65882 |
3 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2C>T |
None |
M0055467 |
IMOBMPAE_00069 |
65913 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
30T>G |
Leu10Leu |
M0055468 |
IMOBMPAE_00053 |
52088 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
645A>G |
Leu215Leu |
M0055469 |
IMOBMPAE_00049 |
52317 |
3 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4090T>C |
None |
M0055470 |
IMOBMPAE_00049 |
52540 |
3 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4313T>C |
None |
M0055471 |
IMOBMPAE_00049 |
52558 |
3 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4331C>T |
None |
M0055472 |
IMOBMPAE_00049 |
52559 |
3 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4332A>G |
None |
M0055473 |
IMOBMPAE_00049 |
52561 |
3 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4334G>C |
None |
M0055474 |
IMOBMPAE_00049 |
52599 |
3 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4372A>G |
None |
M0055475 |
IMOBMPAE_00054 |
52900 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
285C>T |
Gly95Gly |
M0055476 |
IMOBMPAE_00054 |
52915 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
300C>T |
Ser100Ser |
M0055477 |
IMOBMPAE_00054 |
52930 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
315C>T |
Phe105Phe |
M0055478 |
IMOBMPAE_00054 |
53252 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
637C>T |
His213Tyr |
M0055479 |
IMOBMPAE_00054 |
53287 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
672C>T |
Ile224Ile |
M0055480 |
IMOBMPAE_00054 |
53368 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
753A>G |
Lys251Lys |
M0055481 |
IMOBMPAE_00054 |
53529 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
914C>G |
Thr305Arg |
M0055482 |
IMOBMPAE_00054 |
53533 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
918A>G |
Leu306Leu |
M0055483 |
IMOBMPAE_00054 |
53977 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1362C>A |
Phe454Leu |
M0055484 |
IMOBMPAE_00054 |
53980 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1365T>C |
Asn455Asn |
M0055485 |
IMOBMPAE_00054 |
53986 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1371T>C |
Ser457Ser |
M0055486 |
IMOBMPAE_00054 |
53989 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1374T>C |
Ile458Ile |
M0055487 |
IMOBMPAE_00054 |
53991 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1376A>G |
Asn459Ser |
M0055488 |
IMOBMPAE_00054 |
54070 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1455A>G |
Arg485Arg |
M0055489 |
IMOBMPAE_00052 |
54225 |
4 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3764C>G |
None |
M0055490 |
IMOBMPAE_00055 |
54258 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
15T>C |
Phe5Phe |
M0055491 |
IMOBMPAE_00056 |
55185 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
267C>T |
Asp89Asp |
M0055492 |
IMOBMPAE_00057 |
55736 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
53T>C |
Ile18Thr |
M0055493 |
IMOBMPAE_00057 |
55740 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
57A>T |
Val19Val |
M0055494 |
IMOBMPAE_00057 |
55750 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
67A>C |
Met23Leu |
M0055495 |
IMOBMPAE_00057 |
55893 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
210G>A |
Val70Val |
M0055496 |
IMOBMPAE_00057 |
55944 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
261C>T |
Gly87Gly |
M0055497 |
IMOBMPAE_00057 |
55965 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
282T>C |
Phe94Phe |
M0055498 |
IMOBMPAE_00059 |
57568 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1194G>C |
Arg398Arg |
M0055499 |
IMOBMPAE_00059 |
57574 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1200C>A |
Thr400Thr |
M0055500 |
IMOBMPAE_00059 |
57673 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1299T>C |
Gly433Gly |
M0055501 |
IMOBMPAE_00059 |
57704 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
1330G>T |
Val444Leu |
M0055502 |
IMOBMPAE_00059 |
57745 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1371G>A |
Val457Val |
M0055503 |
IMOBMPAE_00059 |
57776 |
5 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
1402C>A |
Gln468Lys |
M0055504 |
IMOBMPAE_00059 |
57781 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1407C>T |
Tyr469Tyr |
M0055505 |
IMOBMPAE_00060 |
57882 |
4 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-43A>G |
None |
M0055506 |
IMOBMPAE_00060 |
58120 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
196C>T |
Leu66Leu |
M0055507 |
IMOBMPAE_00060 |
58779 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
855G>C |
Ala285Ala |
M0055508 |
IMOBMPAE_00060 |
58782 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
858T>C |
Ser286Ser |
M0055509 |
IMOBMPAE_00060 |
58857 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
933C>T |
Thr311Thr |
M0055510 |
IMOBMPAE_00061 |
59620 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
192C>A |
Gly64Gly |
M0055511 |
IMOBMPAE_00061 |
59623 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
195G>A |
Thr65Thr |
M0055512 |
IMOBMPAE_00062 |
60573 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
465A>G |
Leu155Leu |
M0055513 |
IMOBMPAE_00064 |
61544 |
4 |
Skin |
0.14 |
protein_coding |
start_lost |
HIGH |
3G>T |
Met1? |
M0055514 |
IMOBMPAE_00064 |
61781 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
240G>A |
Lys80Lys |
M0055515 |
IMOBMPAE_00064 |
61799 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
258C>T |
Asn86Asn |
M0055516 |
IMOBMPAE_00065 |
62952 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
609T>C |
Ile203Ile |
M0055517 |
IMOBMPAE_00065 |
62955 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
612C>T |
Arg204Arg |
M0055518 |
IMOBMPAE_00065 |
62961 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
618A>G |
Glu206Glu |
M0055519 |
IMOBMPAE_00065 |
62964 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
621T>C |
Phe207Phe |
M0055520 |
IMOBMPAE_00065 |
62967 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
624A>G |
Gln208Gln |
M0055521 |
IMOBMPAE_00065 |
62968 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
625T>C |
Leu209Leu |
M0055522 |
IMOBMPAE_00065 |
62970 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
627G>A |
Leu209Leu |
M0055523 |
IMOBMPAE_00065 |
62973 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
630A>G |
Gln210Gln |
M0055524 |
IMOBMPAE_00065 |
62985 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
642C>T |
Ala214Ala |
M0055525 |
IMOBMPAE_00065 |
63022 |
6 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
679A>G |
Ile227Val |
M0055526 |
IMOBMPAE_00066 |
63825 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
103T>G |
Ser35Ala |
M0055527 |
IMOBMPAE_00066 |
63830 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
108T>C |
Tyr36Tyr |
M0055528 |
IMOBMPAE_00066 |
63832 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
110A>G |
Lys37Arg |
M0055529 |
IMOBMPAE_00066 |
63833 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
111G>A |
Lys37Lys |
M0055530 |
IMOBMPAE_00066 |
63860 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
138T>A |
Ile46Ile |
M0055531 |
IMOBMPAE_00066 |
64133 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
411G>A |
Gln137Gln |
M0055532 |
IMOBMPAE_00066 |
64145 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
423A>G |
Glu141Glu |
M0055533 |
IMOBMPAE_00066 |
64151 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
429G>A |
Lys143Lys |
M0055534 |
IMOBMPAE_00066 |
64160 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
438A>C |
Ala146Ala |
M0055535 |
IMOBMPAE_00066 |
64169 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
447G>A |
Gly149Gly |
M0055536 |
IMOBMPAE_00066 |
64193 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
471A>G |
Ser157Ser |
M0055537 |
IMOBMPAE_00066 |
64196 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
474C>T |
Ser158Ser |
M0055538 |
IMOBMPAE_00066 |
64205 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
483A>G |
Thr161Thr |
M0055539 |
IMOBMPAE_00066 |
64211 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
489G>A |
Lys163Lys |
M0055540 |
IMOBMPAE_00066 |
64212 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
490A>T |
Ile164Leu |
M0055541 |
IMOBMPAE_00066 |
64247 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
525G>A |
Arg175Arg |
M0055542 |
IMOBMPAE_00066 |
64250 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
528C>T |
Ser176Ser |
M0055543 |
IMOBMPAE_00067 |
64441 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
75G>A |
Ser25Ser |
M0055544 |
IMOBMPAE_00068 |
64689 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
22T>C |
Phe8Leu |
M0055545 |
IMOBMPAE_00068 |
65633 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
966G>A |
Val322Val |
M0055546 |
IMOBMPAE_00068 |
65639 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
972G>A |
Gln324Gln |
M0055547 |
IMOBMPAE_00068 |
65645 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
978T>C |
Ile326Ile |
M0055548 |
IMOBMPAE_00068 |
65663 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
996C>T |
Arg332Arg |
M0055549 |
IMOBMPAE_00070 |
66922 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
111A>C |
Pro37Pro |
M0055550 |
IMOBMPAE_00070 |
67118 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
307G>A |
Val103Ile |
M0055551 |
IMOBMPAE_00070 |
67129 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
318G>A |
Gln106Gln |
M0055552 |
IMOBMPAE_00070 |
67150 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
339C>T |
Leu113Leu |
M0055553 |
IMOBMPAE_00070 |
67198 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
387A>G |
Leu129Leu |
M0055554 |
IMOBMPAE_00070 |
67264 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
453A>G |
Gln151Gln |
M0055555 |
IMOBMPAE_00070 |
67504 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
693C>T |
Cys231Cys |
M0055556 |
IMOBMPAE_00070 |
67510 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
699C>T |
Cys233Cys |
M0055557 |
IMOBMPAE_00070 |
67603 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
792C>T |
Phe264Phe |
M0055558 |
IMOBMPAE_00070 |
67660 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
849G>A |
Lys283Lys |
M0055559 |
IMOBMPAE_00070 |
67714 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
903T>C |
Ser301Ser |
M0055560 |
IMOBMPAE_00070 |
67720 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
909T>A |
Leu303Leu |
M0055561 |
IMOBMPAE_00070 |
67813 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1002T>C |
Ala334Ala |
M0055562 |
IMOBMPAE_00070 |
67816 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1005T>A |
Thr335Thr |
M0055563 |
IMOBMPAE_00070 |
67918 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1107T>A |
Gly369Gly |
M0055564 |
IMOBMPAE_00070 |
68179 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1368C>T |
Asn456Asn |
M0055565 |
IMOBMPAE_00070 |
68203 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1392C>T |
Gly464Gly |
M0055566 |
IMOBMPAE_00073 |
70487 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
58C>T |
Arg20Cys |
M0055567 |
IMOBMPAE_00078 |
75751 |
6 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
1794C>A |
Asn598Lys |
M0055568 |
IMOBMPAE_00078 |
75880 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1923T>A |
Val641Val |
M0055569 |
IMOBMPAE_00078 |
78508 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
4551C>T |
Leu1517Leu |
M0055570 |
IMOBMPAE_00078 |
78535 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
4578G>A |
Glu1526Glu |
M0055571 |
IMOBMPAE_00078 |
78550 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
4593T>C |
Ile1531Ile |
M0055572 |
IMOBMPAE_00078 |
78649 |
6 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
4692T>A |
Ile1564Ile |
M0055573 |
IMOBMPAE_00070 |
68521 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1710C>T |
Ala570Ala |
M0055574 |
IMOBMPAE_00071 |
69041 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
246C>T |
Ser82Ser |
M0055575 |
IMOBMPAE_00071 |
69073 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
278A>G |
Asn93Ser |
M0055576 |
IMOBMPAE_00071 |
69076 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
281G>C |
Ser94Thr |
M0055577 |
IMOBMPAE_00071 |
69083 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
288A>G |
Arg96Arg |
M0055578 |
IMOBMPAE_00071 |
69107 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
312G>A |
Lys104Lys |
M0055579 |
IMOBMPAE_00071 |
69110 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
315T>C |
Asp105Asp |
M0055580 |
IMOBMPAE_00071 |
69138 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
343T>A |
Trp115Arg |
M0055581 |
IMOBMPAE_00071 |
69139 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
344G>T |
Trp115Leu |
M0055582 |
IMOBMPAE_00071 |
69143 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
348A>G |
Arg116Arg |
M0055583 |
IMOBMPAE_00071 |
69293 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
498C>T |
Ile166Ile |
M0055584 |
IMOBMPAE_00072 |
69929 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
286C>T |
Leu96Phe |
M0055585 |
IMOBMPAE_00072 |
70299 |
6 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
656T>A |
Ile219Asn |
M0055586 |
IMOBMPAE_00072 |
70338 |
6 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
695G>A |
Arg232Lys |
M0055587 |
IMOBMPAE_00074 |
70816 |
5 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
272C>A |
Thr91Asn |
M0055588 |
IMOBMPAE_00074 |
71097 |
5 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
553G>A |
Gly185Ser |
M0055589 |
IMOBMPAE_00074 |
71274 |
5 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
730C>A |
Gln244Lys |
M0055590 |
IMOBMPAE_00074 |
71300 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
756A>C |
Ala252Ala |
M0055591 |
IMOBMPAE_00074 |
71303 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
759C>T |
Ala253Ala |
M0055592 |
IMOBMPAE_00078 |
74472 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
515G>A |
Gly172Glu |
M0055593 |
IMOBMPAE_00078 |
74505 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
548T>A |
Val183Asp |
M0055594 |
IMOBMPAE_00078 |
74876 |
5 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
919T>G |
Tyr307Asp |
M0055595 |
IMOBMPAE_00078 |
75382 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1425G>A |
Leu475Leu |
M0055596 |
IMOBMPAE_00078 |
76591 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
2634C>T |
Asp878Asp |
M0055597 |
IMOBMPAE_00078 |
77674 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
3717T>G |
Val1239Val |
M0055598 |
IMOBMPAE_00078 |
77695 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
3738A>G |
Arg1246Arg |
M0055599 |
IMOBMPAE_00078 |
77698 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
3741C>G |
Arg1247Arg |
M0055600 |
IMOBMPAE_00078 |
77707 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
3750T>C |
Asn1250Asn |
M0055601 |
IMOBMPAE_00078 |
77713 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
3756C>T |
Ser1252Ser |
M0055602 |
IMOBMPAE_00078 |
77714 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
3757C>T |
Leu1253Leu |
M0055603 |
IMOBMPAE_00078 |
77728 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
3771G>T |
Leu1257Leu |
M0055604 |
IMOBMPAE_00078 |
77729 |
5 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
3772C>T |
Leu1258Phe |
M0055605 |
IMOBMPAE_00078 |
77731 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
3774T>A |
Leu1258Leu |
M0055606 |
IMOBMPAE_00078 |
77734 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
3777A>G |
Ser1259Ser |
M0055607 |
IMOBMPAE_00078 |
77737 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
3780A>G |
Glu1260Glu |
M0055608 |
IMOBMPAE_00078 |
77743 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
3786T>C |
Ile1262Ile |
M0055609 |
IMOBMPAE_00078 |
77746 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
3789T>C |
Asp1263Asp |
M0055610 |
IMOBMPAE_00078 |
78016 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
4059A>G |
Leu1353Leu |
M0055611 |
IMOBMPAE_00078 |
78019 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
4062A>T |
Ile1354Ile |
M0055612 |
IMOBMPAE_00078 |
78022 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
4065G>A |
Arg1355Arg |
M0055613 |
IMOBMPAE_00078 |
78034 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
4077A>G |
Lys1359Lys |
M0055614 |
IMOBMPAE_00078 |
78037 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
4080C>T |
Asp1360Asp |
M0055615 |
IMOBMPAE_00078 |
78038 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
4081A>C |
Ile1361Leu |
M0055616 |
IMOBMPAE_00078 |
78040 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
4083C>T |
Ile1361Ile |
M0055617 |
IMOBMPAE_00078 |
78043 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
4086T>A |
Pro1362Pro |
M0055618 |
IMOBMPAE_00078 |
78190 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
4233G>A |
Gln1411Gln |
M0055619 |
IMOBMPAE_00078 |
78241 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
4284A>T |
Ile1428Ile |
M0055620 |
IMOBMPAE_00078 |
78244 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
4287A>G |
Gln1429Gln |
M0055621 |
IMOBMPAE_00078 |
78250 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
4293A>G |
Gly1431Gly |
M0055622 |
IMOBMPAE_00078 |
78278 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
4321A>G |
Ile1441Val |
M0055623 |
IMOBMPAE_00078 |
78406 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
4449T>C |
Val1483Val |
M0055624 |
IMOBMPAE_00078 |
78415 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
4458C>T |
Leu1486Leu |
M0055625 |
IMOBMPAE_00078 |
78418 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
4461G>A |
Gln1487Gln |
M0055626 |
IMOBMPAE_00078 |
78427 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
4470G>A |
Gln1490Gln |
M0055627 |
IMOBMPAE_00078 |
78436 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
4479G>A |
Gln1493Gln |
M0055628 |
IMOBMPAE_00078 |
78439 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
4482A>C |
Ala1494Ala |
M0055629 |
IMOBMPAE_00078 |
78440 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
4483A>C |
Arg1495Arg |
M0055630 |
IMOBMPAE_00078 |
78454 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
4497A>G |
Ala1499Ala |
M0055631 |
IMOBMPAE_00078 |
78460 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
4503A>G |
Lys1501Lys |
M0055632 |
IMOBMPAE_00078 |
78463 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
4506G>A |
Lys1502Lys |
M0055633 |
IMOBMPAE_00078 |
78502 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
4545G>A |
Gln1515Gln |
M0055634 |
IMOBMPAE_00078 |
78538 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
4581A>C |
Thr1527Thr |
M0055635 |
IMOBMPAE_00078 |
78655 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
4698C>A |
Asp1566Glu |
M0055636 |
IMOBMPAE_00078 |
78658 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
4701A>T |
Gly1567Gly |
M0055637 |
IMOBMPAE_00078 |
78676 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
4719C>T |
Asn1573Asn |
M0055638 |
IMOBMPAE_00078 |
78679 |
4 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
4722C>T |
Asp1574Asp |
M0055639 |
IMOBMPAE_00079 |
79031 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
250C>T |
His84Tyr |
M0055640 |
IMOBMPAE_00079 |
79032 |
4 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
251A>C |
His84Pro |
M0055641 |
IMOBMPAE_00054 |
53566 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
951G>A |
Glu317Glu |
M0055642 |
IMOBMPAE_00078 |
75346 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1389C>T |
Asp463Asp |
M0055643 |
IMOBMPAE_00078 |
77230 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
3273T>C |
Ile1091Ile |
M0055644 |
IMOBMPAE_00078 |
77236 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
3279G>A |
Glu1093Glu |
M0055645 |
IMOBMPAE_00078 |
77273 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
3316T>C |
Leu1106Leu |
M0055646 |
IMOBMPAE_00059 |
56324 |
3 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-51A>C |
None |
M0055647 |
IMOBMPAE_00059 |
57262 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
888C>T |
Thr296Thr |
M0055648 |
IMOBMPAE_00069 |
66397 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
514T>C |
Leu172Leu |
M0055649 |
IMOBMPAE_00069 |
66468 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
585A>C |
Ile195Ile |
M0055650 |
IMOBMPAE_00069 |
66473 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
590C>G |
Thr197Arg |
M0055651 |
IMOBMPAE_00069 |
66474 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
591G>C |
Thr197Thr |
M0055652 |
IMOBMPAE_00069 |
66486 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
603T>C |
Ser201Ser |
M0055653 |
IMOBMPAE_00069 |
66540 |
5 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
657A>G |
Thr219Thr |
M0055654 |
IMOBMPAE_00069 |
66573 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
690T>A |
Val230Val |
M0055655 |
IMOBMPAE_00020 |
18065 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
33A>G |
Leu11Leu |
M0055656 |
IMOBMPAE_00054 |
53497 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
882C>T |
Phe294Phe |
M0055657 |
IMOBMPAE_00064 |
62054 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
513A>T |
Ala171Ala |
M0055658 |
IMOBMPAE_00069 |
65925 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
42G>C |
Gln14His |
M0055659 |
IMOBMPAE_00069 |
65929 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
46C>T |
Leu16Leu |
M0055660 |
IMOBMPAE_00069 |
66330 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
447C>T |
Leu149Leu |
M0055661 |
IMOBMPAE_00069 |
66603 |
3 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
720A>G |
Arg240Arg |
M0055662 |
IMOBMPAE_00040 |
37848 |
3 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
145A>G |
Arg49Gly |
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 |
IMOBMPAE_00035 |
Mercury (Hg) |
77.4 |
2e-52 |
1 |
124 |
1.0000 |
1.0000 |
experiment |
IMOBMPAE_00035 |
Mercury (Hg) |
100 |
8.5e-65 |
1 |
124 |
1.0000 |
1.0000 |
prediction |
IMOBMPAE_00036 |
Mercury (Hg) |
99.5 |
2.2e-107 |
1 |
200 |
1.0000 |
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 |
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 |
IMOBMPAE_00036 |
1.A.72.3.2 |
88.5 |
5.3e-99 |
1 |
200 |
1.0000 |
1.0000 |
1 |
Channels/Pores |
1.A |
α-Type Channels |
1.A.72 |
The Mercuric Ion Pore (Mer) Superfamily |