Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C2659 |
Reference Plasmid |
1111525849859186_bin.7__k141_200031 |
Reference Plasmid Size |
12209 |
Reference Plasmid GC Content |
0.45 |
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 |
M0051507 |
ECMIOKCG_00002 |
325 |
15 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
1791A>G |
Leu597Leu |
M0051508 |
ECMIOKCG_00002 |
328 |
15 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
1788G>A |
Ala596Ala |
M0051509 |
ECMIOKCG_00002 |
353 |
12 |
Skin |
0.36 |
protein_coding |
missense_variant |
MODERATE |
1763A>G |
Asn588Ser |
M0051510 |
ECMIOKCG_00002 |
373 |
15 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
1743C>T |
Ala581Ala |
M0051511 |
ECMIOKCG_00002 |
374 |
15 |
Skin |
0.45 |
protein_coding |
missense_variant |
MODERATE |
1742C>G |
Ala581Gly |
M0051512 |
ECMIOKCG_00002 |
379 |
15 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
1737A>T |
Ile579Ile |
M0051513 |
ECMIOKCG_00002 |
381 |
15 |
Skin |
0.45 |
protein_coding |
missense_variant |
MODERATE |
1735A>C |
Ile579Leu |
M0051514 |
ECMIOKCG_00002 |
382 |
15 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
1734T>C |
Ile578Ile |
M0051515 |
ECMIOKCG_00002 |
387 |
14 |
Skin |
0.42 |
protein_coding |
missense_variant |
MODERATE |
1729A>G |
Ile577Val |
M0051516 |
ECMIOKCG_00002 |
390 |
15 |
Skin |
0.45 |
protein_coding |
missense_variant |
MODERATE |
1726G>A |
Val576Ile |
M0051517 |
ECMIOKCG_00002 |
649 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1467T>C |
Thr489Thr |
M0051518 |
ECMIOKCG_00002 |
660 |
9 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
1456G>A |
Asp486Asn |
M0051519 |
ECMIOKCG_00002 |
694 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1422T>C |
Phe474Phe |
M0051520 |
ECMIOKCG_00002 |
754 |
26 |
Skin |
0.79 |
protein_coding |
synonymous_variant |
LOW |
1362A>G |
Ala454Ala |
M0051521 |
ECMIOKCG_00002 |
755 |
25 |
Skin |
0.76 |
protein_coding |
missense_variant |
MODERATE |
1361C>T |
Ala454Val |
M0051522 |
ECMIOKCG_00002 |
763 |
18 |
Skin |
0.55 |
protein_coding |
synonymous_variant |
LOW |
1353T>C |
Gly451Gly |
M0051523 |
ECMIOKCG_00002 |
781 |
18 |
Skin |
0.55 |
protein_coding |
synonymous_variant |
LOW |
1335A>G |
Gly445Gly |
M0051524 |
ECMIOKCG_00002 |
798 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1318A>C |
Ile440Leu |
M0051525 |
ECMIOKCG_00002 |
841 |
14 |
Skin |
0.42 |
protein_coding |
synonymous_variant |
LOW |
1275A>G |
Ala425Ala |
M0051526 |
ECMIOKCG_00002 |
847 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1269T>C |
Ile423Ile |
M0051527 |
ECMIOKCG_00002 |
865 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1251C>G |
Val417Val |
M0051528 |
ECMIOKCG_00002 |
868 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1248G>A |
Ala416Ala |
M0051529 |
ECMIOKCG_00002 |
880 |
15 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
1236C>A |
Ile412Ile |
M0051530 |
ECMIOKCG_00002 |
883 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1233C>G |
Val411Val |
M0051531 |
ECMIOKCG_00002 |
952 |
19 |
Skin |
0.58 |
protein_coding |
synonymous_variant |
LOW |
1164T>C |
Gly388Gly |
M0051532 |
ECMIOKCG_00002 |
982 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1134C>G |
Val378Val |
M0051533 |
ECMIOKCG_00002 |
985 |
19 |
Skin |
0.58 |
protein_coding |
synonymous_variant |
LOW |
1131C>T |
Gly377Gly |
M0051534 |
ECMIOKCG_00002 |
1087 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1029T>A |
Ile343Ile |
M0051535 |
ECMIOKCG_00002 |
1117 |
21 |
Skin |
0.64 |
protein_coding |
synonymous_variant |
LOW |
999G>C |
Ala333Ala |
M0051536 |
ECMIOKCG_00002 |
1126 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
990T>C |
Asn330Asn |
M0051537 |
ECMIOKCG_00002 |
1129 |
20 |
Skin |
0.61 |
protein_coding |
synonymous_variant |
LOW |
987T>C |
Ile329Ile |
M0051538 |
ECMIOKCG_00002 |
1135 |
11 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
981A>G |
Ala327Ala |
M0051539 |
ECMIOKCG_00002 |
1234 |
15 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
882T>C |
Ser294Ser |
M0051540 |
ECMIOKCG_00002 |
1237 |
14 |
Skin |
0.42 |
protein_coding |
synonymous_variant |
LOW |
879C>T |
Pro293Pro |
M0051541 |
ECMIOKCG_00002 |
1249 |
15 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
867C>T |
Ser289Ser |
M0051542 |
ECMIOKCG_00002 |
1356 |
10 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
760T>C |
Leu254Leu |
M0051543 |
ECMIOKCG_00002 |
1372 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
744G>A |
Leu248Leu |
M0051544 |
ECMIOKCG_00002 |
1374 |
11 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
742T>C |
Leu248Leu |
M0051545 |
ECMIOKCG_00002 |
1375 |
11 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
741C>T |
Thr247Thr |
M0051546 |
ECMIOKCG_00002 |
1402 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
714C>T |
Ala238Ala |
M0051547 |
ECMIOKCG_00002 |
1474 |
24 |
Skin |
0.73 |
protein_coding |
synonymous_variant |
LOW |
642C>T |
Asn214Asn |
M0051548 |
ECMIOKCG_00002 |
1573 |
27 |
Skin |
0.82 |
protein_coding |
synonymous_variant |
LOW |
543G>T |
Gly181Gly |
M0051549 |
ECMIOKCG_00002 |
1720 |
22 |
Skin |
0.67 |
protein_coding |
synonymous_variant |
LOW |
396G>T |
Pro132Pro |
M0051550 |
ECMIOKCG_00002 |
1723 |
22 |
Skin |
0.67 |
protein_coding |
synonymous_variant |
LOW |
393C>T |
Asn131Asn |
M0051551 |
ECMIOKCG_00002 |
1729 |
18 |
Skin |
0.55 |
protein_coding |
synonymous_variant |
LOW |
387G>A |
Glu129Glu |
M0051552 |
ECMIOKCG_00002 |
1882 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
234A>G |
Leu78Leu |
M0051553 |
ECMIOKCG_00002 |
1883 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
233T>C |
Leu78Pro |
M0051554 |
ECMIOKCG_00002 |
1884 |
9 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
232C>G |
Leu78Val |
M0051555 |
ECMIOKCG_00002 |
1885 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
231T>C |
Leu77Leu |
M0051556 |
ECMIOKCG_00002 |
1907 |
9 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
209T>C |
Ile70Thr |
M0051557 |
ECMIOKCG_00002 |
1986 |
19 |
Skin |
0.58 |
protein_coding |
missense_variant |
MODERATE |
130T>C |
Ser44Pro |
M0051558 |
ECMIOKCG_00002 |
2011 |
26 |
Skin |
0.79 |
protein_coding |
synonymous_variant |
LOW |
105G>C |
Ala35Ala |
M0051559 |
ECMIOKCG_00002 |
2050 |
23 |
Skin |
0.70 |
protein_coding |
synonymous_variant |
LOW |
66C>T |
Ser22Ser |
M0051560 |
ECMIOKCG_00002 |
2064 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
52C>T |
Leu18Leu |
M0051561 |
ECMIOKCG_00002 |
2077 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
39T>C |
Gly13Gly |
M0051562 |
ECMIOKCG_00002 |
2132 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-17C>A |
None |
M0051563 |
ECMIOKCG_00002 |
2149 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-34G>A |
None |
M0051564 |
ECMIOKCG_00002 |
2162 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-47C>T |
None |
M0051565 |
ECMIOKCG_00002 |
2164 |
8 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-49C>A |
None |
M0051566 |
ECMIOKCG_00002 |
2167 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-52C>A |
None |
M0051567 |
ECMIOKCG_00002 |
2189 |
10 |
Skin |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-74T>A |
None |
M0051568 |
ECMIOKCG_00003 |
2238 |
22 |
Skin |
0.67 |
protein_coding |
synonymous_variant |
LOW |
1299T>C |
Ile433Ile |
M0051569 |
ECMIOKCG_00003 |
2247 |
24 |
Skin |
0.73 |
protein_coding |
synonymous_variant |
LOW |
1290T>C |
Phe430Phe |
M0051570 |
ECMIOKCG_00003 |
2281 |
20 |
Skin |
0.61 |
protein_coding |
missense_variant |
MODERATE |
1256T>C |
Ile419Thr |
M0051571 |
ECMIOKCG_00003 |
2313 |
16 |
Skin |
0.48 |
protein_coding |
synonymous_variant |
LOW |
1224G>C |
Ala408Ala |
M0051572 |
ECMIOKCG_00003 |
2352 |
10 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
1185T>C |
Phe395Phe |
M0051573 |
ECMIOKCG_00003 |
2355 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1182A>C |
Ser394Ser |
M0051574 |
ECMIOKCG_00003 |
2370 |
17 |
Skin |
0.52 |
protein_coding |
synonymous_variant |
LOW |
1167A>G |
Gly389Gly |
M0051575 |
ECMIOKCG_00003 |
2388 |
12 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
1149T>C |
Thr383Thr |
M0051576 |
ECMIOKCG_00003 |
2436 |
15 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
1101A>G |
Glu367Glu |
M0051577 |
ECMIOKCG_00003 |
2465 |
20 |
Skin |
0.61 |
protein_coding |
missense_variant |
MODERATE |
1072G>A |
Val358Met |
M0051578 |
ECMIOKCG_00003 |
2511 |
18 |
Skin |
0.55 |
protein_coding |
synonymous_variant |
LOW |
1026T>C |
Asn342Asn |
M0051579 |
ECMIOKCG_00003 |
2513 |
18 |
Skin |
0.55 |
protein_coding |
missense_variant |
MODERATE |
1024A>C |
Asn342His |
M0051580 |
ECMIOKCG_00003 |
2556 |
19 |
Skin |
0.58 |
protein_coding |
synonymous_variant |
LOW |
981T>C |
Gly327Gly |
M0051581 |
ECMIOKCG_00003 |
2583 |
23 |
Skin |
0.70 |
protein_coding |
missense_variant |
MODERATE |
954G>C |
Glu318Asp |
M0051582 |
ECMIOKCG_00003 |
2595 |
25 |
Skin |
0.76 |
protein_coding |
synonymous_variant |
LOW |
942G>A |
Lys314Lys |
M0051583 |
ECMIOKCG_00003 |
2601 |
21 |
Skin |
0.64 |
protein_coding |
synonymous_variant |
LOW |
936A>G |
Ser312Ser |
M0051584 |
ECMIOKCG_00003 |
2607 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
930C>T |
Arg310Arg |
M0051585 |
ECMIOKCG_00003 |
2639 |
10 |
Skin |
0.30 |
protein_coding |
missense_variant |
MODERATE |
898G>A |
Val300Ile |
M0051586 |
ECMIOKCG_00003 |
2640 |
11 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
897T>C |
Arg299Arg |
M0051587 |
ECMIOKCG_00003 |
2643 |
10 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
894C>T |
Thr298Thr |
M0051588 |
ECMIOKCG_00003 |
2714 |
18 |
Skin |
0.55 |
protein_coding |
missense_variant |
MODERATE |
823C>A |
Leu275Ile |
M0051589 |
ECMIOKCG_00003 |
2733 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
804C>T |
Gly268Gly |
M0051590 |
ECMIOKCG_00003 |
2748 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
789C>T |
Phe263Phe |
M0051591 |
ECMIOKCG_00003 |
2760 |
12 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
777G>C |
Pro259Pro |
M0051592 |
ECMIOKCG_00003 |
2766 |
13 |
Skin |
0.39 |
protein_coding |
missense_variant |
MODERATE |
771A>T |
Gln257His |
M0051593 |
ECMIOKCG_00003 |
2769 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
768T>C |
Asn256Asn |
M0051594 |
ECMIOKCG_00003 |
2771 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
766A>G |
Asn256Asp |
M0051595 |
ECMIOKCG_00003 |
2772 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
765C>T |
Gly255Gly |
M0051596 |
ECMIOKCG_00003 |
2888 |
16 |
Skin |
0.48 |
protein_coding |
missense_variant |
MODERATE |
649T>G |
Ser217Ala |
M0051597 |
ECMIOKCG_00003 |
2904 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
633T>C |
Gly211Gly |
M0051598 |
ECMIOKCG_00003 |
2907 |
12 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
630G>C |
Gly210Gly |
M0051599 |
ECMIOKCG_00003 |
2925 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
612A>G |
Leu204Leu |
M0051600 |
ECMIOKCG_00003 |
2943 |
22 |
Skin |
0.67 |
protein_coding |
synonymous_variant |
LOW |
594A>G |
Lys198Lys |
M0051601 |
ECMIOKCG_00003 |
2946 |
22 |
Skin |
0.67 |
protein_coding |
synonymous_variant |
LOW |
591A>C |
Pro197Pro |
M0051602 |
ECMIOKCG_00003 |
2952 |
22 |
Skin |
0.67 |
protein_coding |
synonymous_variant |
LOW |
585T>C |
Asp195Asp |
M0051603 |
ECMIOKCG_00003 |
2979 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
558C>T |
Thr186Thr |
M0051604 |
ECMIOKCG_00003 |
2997 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
540C>A |
Leu180Leu |
M0051605 |
ECMIOKCG_00003 |
3033 |
15 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
504G>A |
Gly168Gly |
M0051606 |
ECMIOKCG_00003 |
3036 |
15 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
501T>C |
Tyr167Tyr |
M0051607 |
ECMIOKCG_00003 |
3039 |
15 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
498A>G |
Ala166Ala |
M0051608 |
ECMIOKCG_00003 |
3049 |
15 |
Skin |
0.45 |
protein_coding |
missense_variant |
MODERATE |
488A>G |
Asn163Ser |
M0051609 |
ECMIOKCG_00003 |
3084 |
14 |
Skin |
0.42 |
protein_coding |
synonymous_variant |
LOW |
453A>G |
Pro151Pro |
M0051610 |
ECMIOKCG_00003 |
3096 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
441T>C |
Tyr147Tyr |
M0051611 |
ECMIOKCG_00003 |
3099 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
438G>C |
Ala146Ala |
M0051612 |
ECMIOKCG_00003 |
3130 |
16 |
Skin |
0.48 |
protein_coding |
missense_variant |
MODERATE |
407T>C |
Val136Ala |
M0051613 |
ECMIOKCG_00003 |
3132 |
16 |
Skin |
0.48 |
protein_coding |
synonymous_variant |
LOW |
405A>C |
Ala135Ala |
M0051614 |
ECMIOKCG_00003 |
3153 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
384C>T |
Phe128Phe |
M0051615 |
ECMIOKCG_00003 |
3180 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
357T>C |
Asp119Asp |
M0051616 |
ECMIOKCG_00003 |
3189 |
17 |
Skin |
0.52 |
protein_coding |
synonymous_variant |
LOW |
348G>A |
Leu116Leu |
M0051617 |
ECMIOKCG_00003 |
3285 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
252T>C |
Asn84Asn |
M0051618 |
ECMIOKCG_00003 |
3294 |
12 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
243C>T |
Thr81Thr |
M0051619 |
ECMIOKCG_00003 |
3315 |
15 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
222C>T |
His74His |
M0051620 |
ECMIOKCG_00003 |
3321 |
15 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
216C>T |
Pro72Pro |
M0051621 |
ECMIOKCG_00003 |
3390 |
11 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
147C>T |
Ser49Ser |
M0051622 |
ECMIOKCG_00003 |
3411 |
15 |
Skin |
0.45 |
protein_coding |
synonymous_variant |
LOW |
126G>A |
Ser42Ser |
M0051623 |
ECMIOKCG_00003 |
3488 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
49T>C |
Leu17Leu |
M0051624 |
ECMIOKCG_00003 |
3492 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
45G>A |
Met15Ile |
M0051625 |
ECMIOKCG_00003 |
3494 |
15 |
Skin |
0.45 |
protein_coding |
missense_variant |
MODERATE |
43A>T |
Met15Leu |
M0051626 |
ECMIOKCG_00003 |
3495 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
42G>A |
Gly14Gly |
M0051627 |
ECMIOKCG_00004 |
3759 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
760A>C |
Asn254His |
M0051628 |
ECMIOKCG_00004 |
3787 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
732G>C |
Thr244Thr |
M0051629 |
ECMIOKCG_00004 |
3832 |
18 |
Skin |
0.55 |
protein_coding |
synonymous_variant |
LOW |
687T>C |
Ala229Ala |
M0051630 |
ECMIOKCG_00004 |
3834 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
685G>T |
Ala229Ser |
M0051631 |
ECMIOKCG_00004 |
3847 |
17 |
Skin |
0.52 |
protein_coding |
synonymous_variant |
LOW |
672A>C |
Ala224Ala |
M0051632 |
ECMIOKCG_00004 |
3850 |
14 |
Skin |
0.42 |
protein_coding |
synonymous_variant |
LOW |
669C>T |
Gly223Gly |
M0051633 |
ECMIOKCG_00004 |
3949 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
570A>T |
Ser190Ser |
M0051634 |
ECMIOKCG_00004 |
3967 |
11 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
552C>T |
Asp184Asp |
M0051635 |
ECMIOKCG_00004 |
3985 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
534G>C |
Thr178Thr |
M0051636 |
ECMIOKCG_00004 |
3988 |
12 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
531A>G |
Pro177Pro |
M0051637 |
ECMIOKCG_00004 |
4006 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
513A>G |
Glu171Glu |
M0051638 |
ECMIOKCG_00004 |
4174 |
18 |
Skin |
0.55 |
protein_coding |
synonymous_variant |
LOW |
345C>T |
Ile115Ile |
M0051639 |
ECMIOKCG_00004 |
4180 |
10 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
339G>A |
Glu113Glu |
M0051640 |
ECMIOKCG_00004 |
4201 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
318C>T |
Arg106Arg |
M0051641 |
ECMIOKCG_00004 |
4219 |
16 |
Skin |
0.48 |
protein_coding |
synonymous_variant |
LOW |
300A>G |
Ala100Ala |
M0051642 |
ECMIOKCG_00004 |
4354 |
14 |
Skin |
0.42 |
protein_coding |
synonymous_variant |
LOW |
165T>G |
Ala55Ala |
M0051643 |
ECMIOKCG_00004 |
4419 |
12 |
Skin |
0.36 |
protein_coding |
missense_variant |
MODERATE |
100C>G |
Pro34Ala |
M0051644 |
ECMIOKCG_00004 |
4437 |
9 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
82C>A |
Gln28Lys |
M0051645 |
ECMIOKCG_00004 |
4450 |
12 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
69T>C |
Cys23Cys |
M0051646 |
ECMIOKCG_00004 |
4462 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
57G>C |
Leu19Leu |
M0051647 |
ECMIOKCG_00004 |
4482 |
16 |
Skin |
0.48 |
protein_coding |
missense_variant |
MODERATE |
37A>C |
Met13Leu |
M0051648 |
ECMIOKCG_00002 |
4616 |
9 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2501C>T |
None |
M0051649 |
ECMIOKCG_00002 |
4618 |
6 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2503A>C |
None |
M0051650 |
ECMIOKCG_00002 |
4625 |
6 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2510C>T |
None |
M0051651 |
ECMIOKCG_00002 |
4626 |
9 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2511G>A |
None |
M0051652 |
ECMIOKCG_00002 |
4633 |
10 |
Skin |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2518T>G |
None |
M0051653 |
ECMIOKCG_00005 |
4791 |
10 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
690T>C |
Thr230Thr |
M0051654 |
ECMIOKCG_00005 |
4938 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
543C>T |
Ile181Ile |
M0051655 |
ECMIOKCG_00005 |
4941 |
10 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
540C>T |
Pro180Pro |
M0051656 |
ECMIOKCG_00005 |
4950 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
531A>C |
Ala177Ala |
M0051657 |
ECMIOKCG_00005 |
4953 |
10 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
528A>G |
Ser176Ser |
M0051658 |
ECMIOKCG_00005 |
4962 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
519A>G |
Glu173Glu |
M0051659 |
ECMIOKCG_00005 |
4973 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
508C>T |
Leu170Leu |
M0051660 |
ECMIOKCG_00005 |
5066 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
415G>A |
Asp139Asn |
M0051661 |
ECMIOKCG_00005 |
5160 |
12 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
321C>T |
Phe107Phe |
M0051662 |
ECMIOKCG_00005 |
5208 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
273C>T |
Phe91Phe |
M0051663 |
ECMIOKCG_00005 |
5223 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
258C>T |
Arg86Arg |
M0051664 |
ECMIOKCG_00005 |
5234 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
247C>T |
Leu83Leu |
M0051665 |
ECMIOKCG_00005 |
5250 |
10 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
231C>G |
Ser77Ser |
M0051666 |
ECMIOKCG_00005 |
5307 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
174C>A |
Pro58Pro |
M0051667 |
ECMIOKCG_00005 |
5367 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
114G>C |
Pro38Pro |
M0051668 |
ECMIOKCG_00006 |
5593 |
12 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
819G>A |
Thr273Thr |
M0051669 |
ECMIOKCG_00006 |
5684 |
14 |
Skin |
0.42 |
protein_coding |
missense_variant |
MODERATE |
728T>A |
Ile243Asn |
M0051670 |
ECMIOKCG_00006 |
5704 |
11 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
708G>A |
Gln236Gln |
M0051671 |
ECMIOKCG_00006 |
5719 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
693T>C |
Ser231Ser |
M0051672 |
ECMIOKCG_00006 |
5751 |
12 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
661T>C |
Leu221Leu |
M0051673 |
ECMIOKCG_00006 |
5779 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
633A>G |
Ala211Ala |
M0051674 |
ECMIOKCG_00006 |
5872 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
540T>C |
Tyr180Tyr |
M0051675 |
ECMIOKCG_00006 |
5899 |
12 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
513C>T |
Ile171Ile |
M0051676 |
ECMIOKCG_00006 |
5908 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
504T>G |
Leu168Leu |
M0051677 |
ECMIOKCG_00006 |
5923 |
11 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
489T>C |
Thr163Thr |
M0051678 |
ECMIOKCG_00006 |
6241 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
171T>C |
Pro57Pro |
M0051679 |
ECMIOKCG_00006 |
6295 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
117C>T |
Gly39Gly |
M0051680 |
ECMIOKCG_00006 |
6301 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
111T>C |
Phe37Phe |
M0051681 |
ECMIOKCG_00006 |
6343 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
69A>G |
Gly23Gly |
M0051682 |
ECMIOKCG_00006 |
6382 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
30C>T |
Asn10Asn |
M0051683 |
ECMIOKCG_00006 |
6397 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
15T>C |
Asn5Asn |
M0051684 |
ECMIOKCG_00006 |
6401 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
11C>T |
Thr4Ile |
M0051685 |
ECMIOKCG_00007 |
6435 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
945A>G |
Thr315Thr |
M0051686 |
ECMIOKCG_00007 |
6795 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
585G>C |
Thr195Thr |
M0051687 |
ECMIOKCG_00007 |
6804 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
576C>T |
Phe192Phe |
M0051688 |
ECMIOKCG_00007 |
6867 |
11 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
513G>C |
Thr171Thr |
M0051689 |
ECMIOKCG_00007 |
7164 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
216A>G |
Ala72Ala |
M0051690 |
ECMIOKCG_00007 |
7167 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
213C>T |
Leu71Leu |
M0051691 |
ECMIOKCG_00007 |
7183 |
12 |
Skin |
0.36 |
protein_coding |
missense_variant |
MODERATE |
197G>A |
Gly66Asp |
M0051692 |
ECMIOKCG_00007 |
7200 |
12 |
Skin |
0.36 |
protein_coding |
missense_variant |
MODERATE |
180A>C |
Glu60Asp |
M0051693 |
ECMIOKCG_00007 |
7233 |
10 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
147A>G |
Lys49Lys |
M0051694 |
ECMIOKCG_00007 |
7259 |
11 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
121C>T |
Leu41Leu |
M0051695 |
ECMIOKCG_00003 |
7468 |
7 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3932C>G |
None |
M0051696 |
ECMIOKCG_00003 |
7476 |
7 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3940G>A |
None |
M0051697 |
ECMIOKCG_00003 |
7493 |
7 |
Skin |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3957A>C |
None |
M0051698 |
ECMIOKCG_00003 |
7509 |
6 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3973A>G |
None |
M0051699 |
ECMIOKCG_00008 |
7543 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1137A>G |
Thr379Thr |
M0051700 |
ECMIOKCG_00008 |
7570 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1110G>A |
Lys370Lys |
M0051701 |
ECMIOKCG_00008 |
7603 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1077C>A |
Asp359Glu |
M0051702 |
ECMIOKCG_00008 |
7606 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1074T>C |
Arg358Arg |
M0051703 |
ECMIOKCG_00008 |
7612 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1068T>C |
Ile356Ile |
M0051704 |
ECMIOKCG_00008 |
7723 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
957C>A |
Asn319Lys |
M0051705 |
ECMIOKCG_00008 |
7724 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
956A>G |
Asn319Ser |
M0051706 |
ECMIOKCG_00008 |
7768 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
912G>A |
Pro304Pro |
M0051707 |
ECMIOKCG_00008 |
7804 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
876T>C |
Ile292Ile |
M0051708 |
ECMIOKCG_00008 |
7846 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
834A>T |
Ala278Ala |
M0051709 |
ECMIOKCG_00008 |
7849 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
831T>C |
Ala277Ala |
M0051710 |
ECMIOKCG_00008 |
7867 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
813A>G |
Pro271Pro |
M0051711 |
ECMIOKCG_00008 |
7903 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
777T>A |
Thr259Thr |
M0051712 |
ECMIOKCG_00008 |
7904 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
776C>T |
Thr259Ile |
M0051713 |
ECMIOKCG_00008 |
7993 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
687C>T |
Asn229Asn |
M0051714 |
ECMIOKCG_00008 |
8107 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
573T>C |
Thr191Thr |
M0051715 |
ECMIOKCG_00008 |
8241 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
439G>A |
Ala147Thr |
M0051716 |
ECMIOKCG_00008 |
8275 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
405G>T |
Glu135Asp |
M0051717 |
ECMIOKCG_00008 |
8278 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
402C>T |
Ile134Ile |
M0051718 |
ECMIOKCG_00008 |
8302 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
378T>G |
Gly126Gly |
M0051719 |
ECMIOKCG_00008 |
8332 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
348T>C |
Ser116Ser |
M0051720 |
ECMIOKCG_00008 |
8386 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
294C>T |
Thr98Thr |
M0051721 |
ECMIOKCG_00008 |
8471 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
209G>C |
Gly70Ala |
M0051722 |
ECMIOKCG_00008 |
8488 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
192C>T |
Ile64Ile |
M0051723 |
ECMIOKCG_00008 |
8544 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
136A>G |
Asn46Asp |
M0051724 |
ECMIOKCG_00008 |
8578 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
102G>A |
Thr34Thr |
M0051725 |
ECMIOKCG_00008 |
8620 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
60C>T |
Gly20Gly |
M0051726 |
ECMIOKCG_00004 |
8704 |
5 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4186T>C |
None |
M0051727 |
ECMIOKCG_00004 |
8709 |
5 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4191A>G |
None |
M0051728 |
ECMIOKCG_00004 |
8748 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4230C>G |
None |
M0051729 |
ECMIOKCG_00004 |
8786 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4268A>G |
None |
M0051730 |
ECMIOKCG_00004 |
8791 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4273T>G |
None |
M0051731 |
ECMIOKCG_00004 |
8802 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4284A>G |
None |
M0051732 |
ECMIOKCG_00004 |
8804 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4286A>T |
None |
M0051733 |
ECMIOKCG_00004 |
8805 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4287G>A |
None |
M0051734 |
ECMIOKCG_00009 |
9120 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
282A>C |
Leu94Phe |
M0051735 |
ECMIOKCG_00009 |
9122 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
280T>G |
Leu94Val |
M0051736 |
ECMIOKCG_00009 |
9153 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
249T>G |
Thr83Thr |
M0051737 |
ECMIOKCG_00009 |
9183 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
219G>C |
Thr73Thr |
M0051738 |
ECMIOKCG_00010 |
10196 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
287T>C |
Ile96Thr |
M0051739 |
ECMIOKCG_00010 |
10375 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
108C>T |
Tyr36Tyr |
M0051740 |
ECMIOKCG_00010 |
10387 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
96A>G |
Gly32Gly |
M0051741 |
ECMIOKCG_00006 |
10519 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4108A>G |
None |
M0051742 |
ECMIOKCG_00011 |
10554 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
567C>T |
Ile189Ile |
M0051743 |
ECMIOKCG_00011 |
10593 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
528T>C |
Ala176Ala |
M0051744 |
ECMIOKCG_00002 |
724 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1392G>A |
Val464Val |
M0051745 |
ECMIOKCG_00002 |
862 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1254T>C |
Ile418Ile |
M0051746 |
ECMIOKCG_00002 |
1042 |
10 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
1074G>A |
Leu358Leu |
M0051747 |
ECMIOKCG_00002 |
1147 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
969C>T |
Ile323Ile |
M0051748 |
ECMIOKCG_00002 |
1511 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
605C>T |
Ala202Val |
M0051749 |
ECMIOKCG_00002 |
1537 |
16 |
Skin |
0.48 |
protein_coding |
synonymous_variant |
LOW |
579T>C |
His193His |
M0051750 |
ECMIOKCG_00002 |
1607 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
509C>T |
Ala170Val |
M0051751 |
ECMIOKCG_00002 |
1660 |
14 |
Skin |
0.42 |
protein_coding |
synonymous_variant |
LOW |
456C>T |
Asn152Asn |
M0051752 |
ECMIOKCG_00002 |
1693 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
423G>T |
Glu141Asp |
M0051753 |
ECMIOKCG_00002 |
2078 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
38G>C |
Gly13Ala |
M0051754 |
ECMIOKCG_00002 |
2172 |
5 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-57T>C |
None |
M0051755 |
ECMIOKCG_00003 |
2223 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1314T>C |
Tyr438Tyr |
M0051756 |
ECMIOKCG_00003 |
2373 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1164A>G |
Ser388Ser |
M0051757 |
ECMIOKCG_00003 |
2391 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1146C>T |
Ala382Ala |
M0051758 |
ECMIOKCG_00003 |
2856 |
10 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
681C>T |
His227His |
M0051759 |
ECMIOKCG_00003 |
2871 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
666C>G |
Ala222Ala |
M0051760 |
ECMIOKCG_00003 |
2949 |
18 |
Skin |
0.55 |
protein_coding |
synonymous_variant |
LOW |
588A>G |
Leu196Leu |
M0051761 |
ECMIOKCG_00003 |
3105 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
432C>T |
Ile144Ile |
M0051762 |
ECMIOKCG_00002 |
817 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1299G>C |
Val433Val |
M0051763 |
ECMIOKCG_00002 |
835 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1281G>A |
Leu427Leu |
M0051764 |
ECMIOKCG_00002 |
844 |
11 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
1272G>C |
Gly424Gly |
M0051765 |
ECMIOKCG_00002 |
1099 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1017C>T |
Asp339Asp |
M0051766 |
ECMIOKCG_00002 |
1186 |
17 |
Skin |
0.52 |
protein_coding |
synonymous_variant |
LOW |
930A>T |
Gly310Gly |
M0051767 |
ECMIOKCG_00002 |
1199 |
11 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
917T>C |
Val306Ala |
M0051768 |
ECMIOKCG_00002 |
1203 |
13 |
Skin |
0.39 |
protein_coding |
synonymous_variant |
LOW |
913T>C |
Leu305Leu |
M0051769 |
ECMIOKCG_00002 |
1233 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
883C>T |
Leu295Leu |
M0051770 |
ECMIOKCG_00002 |
1246 |
12 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
870C>G |
Thr290Thr |
M0051771 |
ECMIOKCG_00002 |
1252 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
864C>T |
Val288Val |
M0051772 |
ECMIOKCG_00002 |
1309 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
807G>T |
Thr269Thr |
M0051773 |
ECMIOKCG_00002 |
1318 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
798T>C |
Asp266Asp |
M0051774 |
ECMIOKCG_00002 |
1336 |
16 |
Skin |
0.48 |
protein_coding |
synonymous_variant |
LOW |
780A>G |
Gln260Gln |
M0051775 |
ECMIOKCG_00002 |
1369 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
747A>G |
Ala249Ala |
M0051776 |
ECMIOKCG_00002 |
1381 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
735C>T |
Thr245Thr |
M0051777 |
ECMIOKCG_00002 |
1414 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
702G>A |
Lys234Lys |
M0051778 |
ECMIOKCG_00002 |
1444 |
10 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
672C>G |
Ala224Ala |
M0051779 |
ECMIOKCG_00002 |
1447 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
669C>T |
Ala223Ala |
M0051780 |
ECMIOKCG_00002 |
1639 |
12 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
477T>G |
Arg159Arg |
M0051781 |
ECMIOKCG_00002 |
1672 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
444G>T |
Pro148Pro |
M0051782 |
ECMIOKCG_00002 |
1705 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
411G>T |
Ala137Ala |
M0051783 |
ECMIOKCG_00002 |
1706 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
410C>G |
Ala137Gly |
M0051784 |
ECMIOKCG_00002 |
1741 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
375C>T |
Ala125Ala |
M0051785 |
ECMIOKCG_00002 |
1750 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
366G>A |
Ala122Ala |
M0051786 |
ECMIOKCG_00002 |
1831 |
10 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
285A>G |
Thr95Thr |
M0051787 |
ECMIOKCG_00002 |
1903 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
213A>C |
Pro71Pro |
M0051788 |
ECMIOKCG_00002 |
1924 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
192A>G |
Ala64Ala |
M0051789 |
ECMIOKCG_00002 |
1945 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
171G>C |
Lys57Asn |
M0051790 |
ECMIOKCG_00003 |
2682 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
855C>T |
Asp285Asp |
M0051791 |
ECMIOKCG_00003 |
2693 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
844C>T |
Leu282Leu |
M0051792 |
ECMIOKCG_00003 |
2910 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
627C>G |
Thr209Thr |
M0051793 |
ECMIOKCG_00003 |
3357 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
180T>C |
Gly60Gly |
M0051794 |
ECMIOKCG_00003 |
3480 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
57C>G |
Thr19Thr |
M0051795 |
ECMIOKCG_00002 |
3549 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1434A>T |
None |
M0051796 |
ECMIOKCG_00002 |
3550 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1435A>G |
None |
M0051797 |
ECMIOKCG_00002 |
3551 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1436C>G |
None |
M0051798 |
ECMIOKCG_00002 |
3552 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1437T>C |
None |
M0051799 |
ECMIOKCG_00002 |
3557 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1442A>C |
None |
M0051800 |
ECMIOKCG_00002 |
3577 |
10 |
Skin |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1462C>T |
None |
M0051801 |
ECMIOKCG_00002 |
3613 |
5 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1498C>G |
None |
M0051802 |
ECMIOKCG_00004 |
3652 |
11 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
867T>C |
Gly289Gly |
M0051803 |
ECMIOKCG_00004 |
3709 |
11 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
810C>T |
Tyr270Tyr |
M0051804 |
ECMIOKCG_00004 |
3766 |
10 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
753T>C |
Ala251Ala |
M0051805 |
ECMIOKCG_00004 |
3767 |
10 |
Skin |
0.30 |
protein_coding |
missense_variant |
MODERATE |
752C>G |
Ala251Gly |
M0051806 |
ECMIOKCG_00004 |
3886 |
13 |
Skin |
0.39 |
protein_coding |
synonymous_variant |
LOW |
633T>C |
His211His |
M0051807 |
ECMIOKCG_00004 |
4030 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
489G>A |
Lys163Lys |
M0051808 |
ECMIOKCG_00004 |
4041 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
478C>A |
Gln160Lys |
M0051809 |
ECMIOKCG_00004 |
4042 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
477G>A |
Glu159Glu |
M0051810 |
ECMIOKCG_00004 |
4060 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
459C>T |
Asn153Asn |
M0051811 |
ECMIOKCG_00004 |
4114 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
405C>A |
Pro135Pro |
M0051812 |
ECMIOKCG_00004 |
4273 |
8 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
246A>T |
Glu82Asp |
M0051813 |
ECMIOKCG_00004 |
4278 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
241A>G |
Thr81Ala |
M0051814 |
ECMIOKCG_00004 |
4324 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
195A>G |
Thr65Thr |
M0051815 |
ECMIOKCG_00004 |
4338 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
181A>T |
Met61Leu |
M0051816 |
ECMIOKCG_00004 |
4357 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
162A>G |
Ser54Ser |
M0051817 |
ECMIOKCG_00004 |
4378 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
141T>C |
Asn47Asn |
M0051818 |
ECMIOKCG_00004 |
4381 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
138C>T |
Ser46Ser |
M0051819 |
ECMIOKCG_00004 |
4382 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
137G>C |
Ser46Thr |
M0051820 |
ECMIOKCG_00001 |
213 |
5 |
Skin |
0.15 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*19C>T |
None |
M0051821 |
ECMIOKCG_00001 |
223 |
5 |
Skin |
0.15 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*29T>C |
None |
M0051822 |
ECMIOKCG_00001 |
272 |
6 |
Skin |
0.18 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*78T>C |
None |
M0051823 |
ECMIOKCG_00001 |
300 |
3 |
Skin |
0.09 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*106G>A |
None |
M0051824 |
ECMIOKCG_00002 |
475 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1641A>G |
Pro547Pro |
M0051825 |
ECMIOKCG_00002 |
507 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1609C>T |
Leu537Leu |
M0051826 |
ECMIOKCG_00002 |
544 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1572A>G |
Val524Val |
M0051827 |
ECMIOKCG_00002 |
556 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1560G>C |
Leu520Leu |
M0051828 |
ECMIOKCG_00002 |
589 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1527G>A |
Ser509Ser |
M0051829 |
ECMIOKCG_00002 |
592 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1524T>C |
Thr508Thr |
M0051830 |
ECMIOKCG_00002 |
922 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1194G>A |
Ala398Ala |
M0051831 |
ECMIOKCG_00002 |
1204 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
912A>G |
Pro304Pro |
M0051832 |
ECMIOKCG_00002 |
1786 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
330C>T |
Asn110Asn |
M0051833 |
ECMIOKCG_00002 |
1789 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
327C>T |
Ser109Ser |
M0051834 |
ECMIOKCG_00002 |
2014 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
102T>C |
Ser34Ser |
M0051835 |
ECMIOKCG_00003 |
2817 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
720T>C |
Ile240Ile |
M0051836 |
ECMIOKCG_00002 |
3584 |
8 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1469T>G |
None |
M0051837 |
ECMIOKCG_00004 |
3655 |
10 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
864C>T |
Leu288Leu |
M0051838 |
ECMIOKCG_00004 |
4033 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
486C>T |
Gly162Gly |
M0051839 |
ECMIOKCG_00004 |
4147 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
372G>A |
Pro124Pro |
M0051840 |
ECMIOKCG_00004 |
4213 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
306T>C |
Tyr102Tyr |
M0051841 |
ECMIOKCG_00002 |
596 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
1520G>A |
Arg507Lys |
M0051842 |
ECMIOKCG_00002 |
1108 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
1008C>G |
Thr336Thr |
M0051843 |
ECMIOKCG_00003 |
2236 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1301C>T |
Pro434Leu |
M0051844 |
ECMIOKCG_00003 |
2340 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1197C>T |
Pro399Pro |
M0051845 |
ECMIOKCG_00003 |
2991 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
546A>G |
Lys182Lys |
M0051846 |
ECMIOKCG_00003 |
3015 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
522T>C |
Gly174Gly |
M0051847 |
ECMIOKCG_00003 |
3141 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
396A>G |
Thr132Thr |
M0051848 |
ECMIOKCG_00003 |
3198 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
339G>A |
Val113Val |
M0051849 |
ECMIOKCG_00003 |
3223 |
9 |
Skin |
0.27 |
protein_coding |
stop_gained |
HIGH |
314C>A |
Ser105* |
M0051850 |
ECMIOKCG_00003 |
3224 |
10 |
Skin |
0.30 |
protein_coding |
missense_variant |
MODERATE |
313T>C |
Ser105Pro |
M0051851 |
ECMIOKCG_00003 |
3284 |
11 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
253A>T |
Ser85Cys |
M0051852 |
ECMIOKCG_00003 |
3342 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
195T>C |
Asp65Asp |
M0051853 |
ECMIOKCG_00004 |
4159 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
360C>T |
Gly120Gly |
M0051854 |
ECMIOKCG_00005 |
5124 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
357G>A |
Glu119Glu |
M0051855 |
ECMIOKCG_00005 |
5154 |
7 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
327A>G |
Val109Val |
M0051856 |
ECMIOKCG_00005 |
5370 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
111A>G |
Gly37Gly |
M0051857 |
ECMIOKCG_00002 |
5499 |
9 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3384A>T |
None |
M0051858 |
ECMIOKCG_00006 |
5737 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
675C>T |
Leu225Leu |
M0051859 |
ECMIOKCG_00006 |
5827 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
585A>G |
Leu195Leu |
M0051860 |
ECMIOKCG_00006 |
5830 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
582G>T |
Thr194Thr |
M0051861 |
ECMIOKCG_00006 |
5884 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
528T>C |
Arg176Arg |
M0051862 |
ECMIOKCG_00006 |
6037 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
375C>T |
Pro125Pro |
M0051863 |
ECMIOKCG_00007 |
6663 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
717G>T |
Gly239Gly |
M0051864 |
ECMIOKCG_00008 |
7759 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
921G>A |
Ala307Ala |
M0051865 |
ECMIOKCG_00008 |
8017 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
663G>C |
Ala221Ala |
M0051866 |
ECMIOKCG_00008 |
8173 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
507T>C |
Asn169Asn |
M0051867 |
ECMIOKCG_00002 |
1312 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
804G>A |
Ala268Ala |
M0051868 |
ECMIOKCG_00002 |
910 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1206C>T |
Ala402Ala |
M0051869 |
ECMIOKCG_00002 |
1632 |
10 |
Skin |
0.30 |
protein_coding |
missense_variant |
MODERATE |
484G>C |
Ala162Pro |
M0051870 |
ECMIOKCG_00002 |
1633 |
10 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
483A>G |
Ala161Ala |
M0051871 |
ECMIOKCG_00002 |
1707 |
9 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
409G>A |
Ala137Thr |
M0051872 |
ECMIOKCG_00002 |
1892 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
224A>G |
Asp75Gly |
M0051873 |
ECMIOKCG_00002 |
1948 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
168C>T |
Ile56Ile |
M0051874 |
ECMIOKCG_00002 |
1407 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
709G>T |
Val237Leu |
M0051875 |
ECMIOKCG_00003 |
2473 |
10 |
Skin |
0.30 |
protein_coding |
missense_variant |
MODERATE |
1064T>A |
Ile355Asn |
M0051876 |
ECMIOKCG_00005 |
5343 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
138G>A |
Leu46Leu |
M0051877 |
ECMIOKCG_00005 |
5345 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
136C>T |
Leu46Leu |
M0051878 |
ECMIOKCG_00005 |
5346 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
135T>G |
Thr45Thr |
M0051879 |
ECMIOKCG_00005 |
5391 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
90A>G |
Lys30Lys |
M0051880 |
ECMIOKCG_00005 |
5448 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
33T>C |
Asn11Asn |
M0051881 |
ECMIOKCG_00005 |
5450 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
31A>G |
Asn11Asp |
M0051882 |
ECMIOKCG_00006 |
5659 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
753A>G |
Gln251Gln |
M0051883 |
ECMIOKCG_00009 |
9174 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
228G>C |
Thr76Thr |
M0051884 |
ECMIOKCG_00002 |
1585 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
531A>C |
Ala177Ala |
M0051885 |
ECMIOKCG_00003 |
2433 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
1104G>A |
Met368Ile |
M0051886 |
ECMIOKCG_00001 |
217 |
4 |
Skin |
0.12 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*23A>T |
None |
M0051887 |
ECMIOKCG_00001 |
227 |
4 |
Skin |
0.12 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*33G>A |
None |
M0051888 |
ECMIOKCG_00001 |
243 |
4 |
Skin |
0.12 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*49A>C |
None |
M0051889 |
ECMIOKCG_00001 |
249 |
3 |
Skin |
0.09 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*55G>A |
None |
M0051890 |
ECMIOKCG_00001 |
250 |
4 |
Skin |
0.12 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*56A>G |
None |
M0051891 |
ECMIOKCG_00001 |
273 |
5 |
Skin |
0.15 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*79A>C |
None |
M0051892 |
ECMIOKCG_00003 |
2265 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1272T>C |
Ser424Ser |
M0051893 |
ECMIOKCG_00003 |
2294 |
10 |
Skin |
0.30 |
protein_coding |
missense_variant |
MODERATE |
1243A>T |
Met415Leu |
M0051894 |
ECMIOKCG_00006 |
5571 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
841T>C |
Leu281Leu |
M0051895 |
ECMIOKCG_00006 |
5572 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
840C>G |
Ala280Ala |
M0051896 |
ECMIOKCG_00006 |
5602 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
810A>G |
Ala270Ala |
M0051897 |
ECMIOKCG_00002 |
1435 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
681C>T |
Asp227Asp |
M0051898 |
ECMIOKCG_00002 |
1993 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
123C>G |
Ala41Ala |
M0051899 |
ECMIOKCG_00003 |
3405 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
132T>C |
Cys44Cys |
M0051900 |
ECMIOKCG_00004 |
4193 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
326T>A |
Phe109Tyr |
M0051901 |
ECMIOKCG_00004 |
4204 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
315G>A |
Ala105Ala |
M0051902 |
ECMIOKCG_00004 |
4205 |
5 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
314C>T |
Ala105Val |
M0051903 |
ECMIOKCG_00005 |
5082 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
399G>A |
Leu133Leu |
M0051904 |
ECMIOKCG_00006 |
5716 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
696T>C |
Thr232Thr |
M0051905 |
ECMIOKCG_00006 |
5755 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
657G>A |
Pro219Pro |
M0051906 |
ECMIOKCG_00006 |
5824 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
588T>A |
Arg196Arg |
M0051907 |
ECMIOKCG_00006 |
6226 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
186C>T |
Asp62Asp |
M0051908 |
ECMIOKCG_00006 |
6339 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
73G>A |
Val25Ile |
M0051909 |
ECMIOKCG_00006 |
6355 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
57T>C |
Ser19Ser |
M0051910 |
ECMIOKCG_00006 |
6376 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
36C>T |
Ile12Ile |
M0051911 |
ECMIOKCG_00006 |
6385 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
27C>T |
Asn9Asn |
M0051912 |
ECMIOKCG_00008 |
7897 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
783T>A |
Leu261Leu |
M0051913 |
ECMIOKCG_00008 |
8083 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
597T>C |
Ala199Ala |
M0051914 |
ECMIOKCG_00008 |
8093 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
587A>G |
Asn196Ser |
M0051915 |
ECMIOKCG_00009 |
9107 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
295G>A |
Val99Ile |
M0051916 |
ECMIOKCG_00009 |
9146 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
256C>A |
His86Asn |
M0051917 |
ECMIOKCG_00001 |
29 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
21A>C |
Gly7Gly |
M0051918 |
ECMIOKCG_00002 |
349 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1767T>C |
His589His |
M0051919 |
ECMIOKCG_00002 |
1429 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
687C>T |
Ile229Ile |
M0051920 |
ECMIOKCG_00003 |
2745 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
792T>C |
Gly264Gly |
M0051921 |
ECMIOKCG_00003 |
3481 |
6 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
56C>T |
Thr19Ile |
M0051922 |
ECMIOKCG_00002 |
3595 |
6 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1480T>C |
None |
M0051923 |
ECMIOKCG_00004 |
3648 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
871C>T |
Pro291Ser |
M0051924 |
ECMIOKCG_00004 |
3659 |
7 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
860A>G |
Lys287Arg |
M0051925 |
ECMIOKCG_00004 |
3742 |
9 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
777G>A |
Lys259Lys |
M0051926 |
ECMIOKCG_00004 |
3958 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
561G>A |
Val187Val |
M0051927 |
ECMIOKCG_00004 |
4045 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
474C>G |
Thr158Thr |
M0051928 |
ECMIOKCG_00004 |
4066 |
8 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
453A>G |
Thr151Thr |
M0051929 |
ECMIOKCG_00004 |
4106 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
413T>C |
Val138Ala |
M0051930 |
ECMIOKCG_00002 |
4696 |
6 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2581T>G |
None |
M0051931 |
ECMIOKCG_00005 |
4740 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
741G>C |
Thr247Thr |
M0051932 |
ECMIOKCG_00005 |
5138 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
343C>T |
Leu115Leu |
M0051933 |
ECMIOKCG_00005 |
5142 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
339G>A |
Glu113Glu |
M0051934 |
ECMIOKCG_00005 |
5145 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
336T>C |
Tyr112Tyr |
M0051935 |
ECMIOKCG_00005 |
5148 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
333T>G |
Leu111Leu |
M0051936 |
ECMIOKCG_00005 |
5151 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
330C>T |
Arg110Arg |
M0051937 |
ECMIOKCG_00005 |
5382 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
99C>T |
Thr33Thr |
M0051938 |
ECMIOKCG_00002 |
4687 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2572C>T |
None |
M0051939 |
ECMIOKCG_00002 |
4697 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2582C>T |
None |
M0051940 |
ECMIOKCG_00002 |
4706 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2591G>A |
None |
M0051941 |
ECMIOKCG_00002 |
4717 |
4 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2602T>G |
None |
M0051942 |
ECMIOKCG_00002 |
4721 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2606A>G |
None |
M0051943 |
ECMIOKCG_00005 |
5034 |
5 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
447T>G |
Ser149Ser |
M0051944 |
ECMIOKCG_00007 |
6984 |
6 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
396T>C |
Phe132Phe |
M0051945 |
ECMIOKCG_00002 |
2056 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
60C>G |
Ile20Met |
M0051946 |
ECMIOKCG_00002 |
2156 |
3 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-41C>T |
None |
M0051947 |
ECMIOKCG_00005 |
5229 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
252C>T |
Arg84Arg |
M0051948 |
ECMIOKCG_00006 |
5761 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
651C>T |
Thr217Thr |
M0051949 |
ECMIOKCG_00006 |
6004 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
408C>G |
Leu136Leu |
M0051950 |
ECMIOKCG_00006 |
6006 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
406C>T |
Leu136Phe |
M0051951 |
ECMIOKCG_00006 |
6109 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
303G>T |
Leu101Leu |
M0051952 |
ECMIOKCG_00006 |
6129 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
283A>G |
Ile95Val |
M0051953 |
ECMIOKCG_00007 |
6582 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
798C>T |
Thr266Thr |
M0051954 |
ECMIOKCG_00007 |
6657 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
723C>G |
Thr241Thr |
M0051955 |
ECMIOKCG_00007 |
6701 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
679G>A |
Val227Met |
M0051956 |
ECMIOKCG_00007 |
6916 |
3 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
464T>A |
Phe155Tyr |
M0051957 |
ECMIOKCG_00001 |
47 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
39G>C |
Val13Val |
M0051958 |
ECMIOKCG_00002 |
1198 |
3 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
918C>G |
Val306Val |
M0051959 |
ECMIOKCG_00002 |
1479 |
4 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
637A>G |
Ile213Val |
M0051960 |
ECMIOKCG_00002 |
1480 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
636C>T |
Pro212Pro |
M0051961 |
ECMIOKCG_00004 |
4393 |
4 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
126G>A |
Ala42Ala |
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 |
ECMIOKCG_00005 |
Arsenic (As) |
75.5 |
1.3e-111 |
3 |
251 |
0.9920 |
0.9689 |
experiment |
ECMIOKCG_00005 |
Arsenic (As) |
75.1 |
4.2e-111 |
3 |
251 |
0.9920 |
0.9651 |
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 |
ECMIOKCG_00005 |
3.A.1.7.1 |
75.5 |
4.9e-110 |
3 |
251 |
0.9920 |
0.7806 |
3 |
Primary Active Transporters |
3.A |
P-P-bond-hydrolysis-driven transporters |
3.A.1 |
The ATP-binding Cassette (ABC) Superfamily |