Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C2143 |
Reference Plasmid |
1111525849743258_bin.35__k141_51129 |
Reference Plasmid Size |
20224 |
Reference Plasmid GC Content |
0.60 |
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 |
M0027450 |
BHICLIJG_00001 |
1029 |
16 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
762T>C |
Ile254Ile |
M0027451 |
BHICLIJG_00001 |
1053 |
12 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
786T>C |
Cys262Cys |
M0027452 |
BHICLIJG_00002 |
1414 |
18 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
781G>A |
Gly261Ser |
M0027453 |
BHICLIJG_00002 |
1450 |
21 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
745G>A |
Val249Ile |
M0027454 |
BHICLIJG_00003 |
2431 |
29 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
219G>C |
Ser73Ser |
M0027455 |
BHICLIJG_00007 |
10766 |
9 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3987G>A |
None |
M0027456 |
BHICLIJG_00011 |
11853 |
45 |
Skin |
0.37 |
protein_coding |
synonymous_variant |
LOW |
249T>C |
Val83Val |
M0027457 |
BHICLIJG_00013 |
13626 |
56 |
Skin |
0.46 |
protein_coding |
missense_variant |
MODERATE |
490T>C |
Ser164Pro |
M0027458 |
BHICLIJG_00013 |
13670 |
50 |
Skin |
0.41 |
protein_coding |
synonymous_variant |
LOW |
534T>C |
Asn178Asn |
M0027459 |
BHICLIJG_00014 |
15045 |
46 |
Skin |
0.38 |
protein_coding |
synonymous_variant |
LOW |
1101G>T |
Thr367Thr |
M0027460 |
BHICLIJG_00014 |
15191 |
47 |
Skin |
0.39 |
protein_coding |
missense_variant |
MODERATE |
1247G>A |
Ser416Asn |
M0027461 |
BHICLIJG_00014 |
15207 |
28 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1263G>A |
Lys421Lys |
M0027462 |
BHICLIJG_00018 |
18304 |
20 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-444G>A |
None |
M0027463 |
BHICLIJG_00018 |
18868 |
11 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
121G>A |
Gly41Ser |
M0027464 |
BHICLIJG_00019 |
19641 |
9 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
399G>C |
Gln133His |
M0027465 |
BHICLIJG_00007 |
6311 |
13 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
469A>C |
Thr157Pro |
M0027466 |
BHICLIJG_00009 |
9106 |
42 |
Skin |
0.35 |
protein_coding |
missense_variant |
MODERATE |
851G>A |
Arg284His |
M0027467 |
BHICLIJG_00007 |
9246 |
39 |
Skin |
0.32 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2467T>C |
None |
M0027468 |
BHICLIJG_00007 |
9645 |
47 |
Skin |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2866G>C |
None |
M0027469 |
BHICLIJG_00007 |
9777 |
40 |
Skin |
0.33 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2998T>C |
None |
M0027470 |
BHICLIJG_00012 |
12489 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
143A>C |
Asp48Ala |
M0027471 |
BHICLIJG_00018 |
18202 |
8 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-546G>C |
None |
M0027472 |
BHICLIJG_00001 |
226 |
9 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-42C>G |
None |
M0027473 |
BHICLIJG_00001 |
349 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
82A>G |
Ser28Gly |
M0027474 |
BHICLIJG_00001 |
810 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
543G>A |
Leu181Leu |
M0027475 |
BHICLIJG_00001 |
885 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
618A>G |
Val206Val |
M0027476 |
BHICLIJG_00001 |
891 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
624T>C |
Ser208Ser |
M0027477 |
BHICLIJG_00001 |
951 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
684C>T |
Ile228Ile |
M0027478 |
BHICLIJG_00001 |
1113 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
846T>C |
Ala282Ala |
M0027479 |
BHICLIJG_00001 |
1239 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
972G>A |
Leu324Leu |
M0027480 |
BHICLIJG_00003 |
1383 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-830C>T |
None |
M0027481 |
BHICLIJG_00002 |
1442 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
753G>A |
Gly251Gly |
M0027482 |
BHICLIJG_00002 |
1444 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
751G>A |
Gly251Arg |
M0027483 |
BHICLIJG_00002 |
1484 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
711C>T |
Gly237Gly |
M0027484 |
BHICLIJG_00002 |
1544 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
651A>C |
Gly217Gly |
M0027485 |
BHICLIJG_00002 |
1589 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
606T>C |
Gly202Gly |
M0027486 |
BHICLIJG_00002 |
1904 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
291T>C |
Val97Val |
M0027487 |
BHICLIJG_00002 |
1995 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
200C>T |
Ala67Val |
M0027488 |
BHICLIJG_00002 |
2065 |
6 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
130G>A |
Val44Ile |
M0027489 |
BHICLIJG_00003 |
2659 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
447T>C |
Ser149Ser |
M0027490 |
BHICLIJG_00003 |
3370 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1158T>C |
Asp386Asp |
M0027491 |
BHICLIJG_00003 |
3379 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1167T>C |
Asp389Asp |
M0027492 |
BHICLIJG_00003 |
3391 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1179T>C |
Ala393Ala |
M0027493 |
BHICLIJG_00003 |
3518 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1306A>G |
Thr436Ala |
M0027494 |
BHICLIJG_00003 |
3592 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1380C>T |
Ile460Ile |
M0027495 |
BHICLIJG_00003 |
3724 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1512T>C |
Tyr504Tyr |
M0027496 |
BHICLIJG_00003 |
4065 |
8 |
Skin |
0.07 |
protein_coding |
splice_region_variant&stop_retained_variant |
LOW |
1853A>G |
Ter618Ter |
M0027497 |
BHICLIJG_00002 |
4135 |
6 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1941T>C |
None |
M0027498 |
BHICLIJG_00004 |
4208 |
8 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
56A>G |
His19Arg |
M0027499 |
BHICLIJG_00004 |
4245 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
93T>C |
Ala31Ala |
M0027500 |
BHICLIJG_00004 |
4431 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
279T>C |
Ala93Ala |
M0027501 |
BHICLIJG_00004 |
4438 |
8 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
286A>G |
Ile96Val |
M0027502 |
BHICLIJG_00004 |
4473 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
321G>A |
Val107Val |
M0027503 |
BHICLIJG_00004 |
4492 |
39 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
340C>T |
Pro114Ser |
M0027504 |
BHICLIJG_00004 |
4542 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
390T>C |
Val130Val |
M0027505 |
BHICLIJG_00004 |
4611 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
459G>A |
Glu153Glu |
M0027506 |
BHICLIJG_00004 |
4629 |
6 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
477A>C |
Gln159His |
M0027507 |
BHICLIJG_00004 |
4644 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
492T>C |
Ser164Ser |
M0027508 |
BHICLIJG_00004 |
4659 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
507A>G |
Ala169Ala |
M0027509 |
BHICLIJG_00004 |
4661 |
6 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
509G>A |
Arg170Gln |
M0027510 |
BHICLIJG_00008 |
6881 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1344C>T |
Val448Val |
M0027511 |
BHICLIJG_00008 |
7505 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
720T>C |
Ile240Ile |
M0027512 |
BHICLIJG_00008 |
7601 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
624C>A |
Arg208Arg |
M0027513 |
BHICLIJG_00008 |
7901 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
324A>G |
Pro108Pro |
M0027514 |
BHICLIJG_00008 |
7991 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
234G>A |
Val78Val |
M0027515 |
BHICLIJG_00009 |
8307 |
8 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
52A>G |
Ile18Val |
M0027516 |
BHICLIJG_00009 |
8477 |
10 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
222A>G |
Leu74Leu |
M0027517 |
BHICLIJG_00009 |
8527 |
10 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
272C>T |
Thr91Met |
M0027518 |
BHICLIJG_00009 |
8549 |
10 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
294A>G |
Glu98Glu |
M0027519 |
BHICLIJG_00009 |
8606 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
351G>A |
Glu117Glu |
M0027520 |
BHICLIJG_00009 |
8612 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
357A>G |
Ala119Ala |
M0027521 |
BHICLIJG_00009 |
8654 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
399A>G |
Leu133Leu |
M0027522 |
BHICLIJG_00009 |
8669 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
414G>A |
Val138Val |
M0027523 |
BHICLIJG_00009 |
8672 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
417T>C |
Leu139Leu |
M0027524 |
BHICLIJG_00009 |
8693 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
438A>G |
Arg146Arg |
M0027525 |
BHICLIJG_00009 |
8713 |
8 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
458T>C |
Val153Ala |
M0027526 |
BHICLIJG_00009 |
8717 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
462G>C |
Leu154Leu |
M0027527 |
BHICLIJG_00009 |
8735 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
480T>C |
Pro160Pro |
M0027528 |
BHICLIJG_00009 |
8750 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
495C>T |
Leu165Leu |
M0027529 |
BHICLIJG_00009 |
8999 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
744A>G |
Leu248Leu |
M0027530 |
BHICLIJG_00007 |
6778 |
13 |
Skin |
0.11 |
protein_coding |
start_lost |
HIGH |
2T>C |
Leu1? |
M0027531 |
BHICLIJG_00009 |
8937 |
9 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
682T>G |
Cys228Gly |
M0027532 |
BHICLIJG_00016 |
16712 |
8 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
799C>T |
His267Tyr |
M0027533 |
BHICLIJG_00016 |
16951 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1038C>T |
Val346Val |
M0027534 |
BHICLIJG_00004 |
4962 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
810A>G |
Ala270Ala |
M0027535 |
BHICLIJG_00005 |
4989 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
11C>T |
Thr4Met |
M0027536 |
BHICLIJG_00005 |
5020 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
42T>A |
Arg14Arg |
M0027537 |
BHICLIJG_00005 |
5029 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
51T>G |
Ala17Ala |
M0027538 |
BHICLIJG_00005 |
5050 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
72G>C |
Val24Val |
M0027539 |
BHICLIJG_00005 |
5065 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
87T>C |
His29His |
M0027540 |
BHICLIJG_00005 |
5069 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
91C>T |
Arg31Trp |
M0027541 |
BHICLIJG_00005 |
5086 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
108T>C |
Ile36Ile |
M0027542 |
BHICLIJG_00002 |
5512 |
6 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3318G>A |
None |
M0027543 |
BHICLIJG_00002 |
5538 |
6 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3344G>A |
None |
M0027544 |
BHICLIJG_00002 |
5555 |
6 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3361T>C |
None |
M0027545 |
BHICLIJG_00002 |
5566 |
6 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3372A>G |
None |
M0027546 |
BHICLIJG_00002 |
5728 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3534C>T |
None |
M0027547 |
BHICLIJG_00002 |
5741 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3547A>G |
None |
M0027548 |
BHICLIJG_00002 |
5753 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3559T>C |
None |
M0027549 |
BHICLIJG_00002 |
5758 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3564T>C |
None |
M0027550 |
BHICLIJG_00002 |
5764 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3570C>T |
None |
M0027551 |
BHICLIJG_00002 |
5765 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3571C>T |
None |
M0027552 |
BHICLIJG_00002 |
5780 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3586G>C |
None |
M0027553 |
BHICLIJG_00007 |
5805 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
975G>A |
Leu325Leu |
M0027554 |
BHICLIJG_00007 |
5830 |
6 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
950G>A |
Arg317Gln |
M0027555 |
BHICLIJG_00007 |
5901 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
879C>T |
Phe293Phe |
M0027556 |
BHICLIJG_00007 |
6006 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
774A>G |
Gln258Gln |
M0027557 |
BHICLIJG_00007 |
6094 |
10 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
686A>C |
Gln229Pro |
M0027558 |
BHICLIJG_00007 |
6096 |
10 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
684A>T |
Arg228Arg |
M0027559 |
BHICLIJG_00007 |
6099 |
10 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
681A>G |
Thr227Thr |
M0027560 |
BHICLIJG_00009 |
9191 |
10 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
936G>A |
Gly312Gly |
M0027561 |
BHICLIJG_00007 |
6341 |
12 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
439C>T |
Pro147Ser |
M0027562 |
BHICLIJG_00007 |
6345 |
12 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
435G>A |
Leu145Leu |
M0027563 |
BHICLIJG_00007 |
6349 |
12 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
431C>T |
Thr144Met |
M0027564 |
BHICLIJG_00007 |
6459 |
11 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
321A>G |
Arg107Arg |
M0027565 |
BHICLIJG_00007 |
6494 |
11 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
286T>C |
Phe96Leu |
M0027566 |
BHICLIJG_00007 |
6522 |
11 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
258G>A |
Met86Ile |
M0027567 |
BHICLIJG_00007 |
6531 |
10 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
249C>G |
Ser83Ser |
M0027568 |
BHICLIJG_00007 |
6555 |
10 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
225A>G |
Gly75Gly |
M0027569 |
BHICLIJG_00007 |
6558 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
222C>T |
Gly74Gly |
M0027570 |
BHICLIJG_00007 |
6585 |
10 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
195G>A |
Ala65Ala |
M0027571 |
BHICLIJG_00007 |
6594 |
10 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
186C>T |
Ile62Ile |
M0027572 |
BHICLIJG_00007 |
6618 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
162G>A |
Ala54Ala |
M0027573 |
BHICLIJG_00007 |
6636 |
10 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
144C>T |
Asp48Asp |
M0027574 |
BHICLIJG_00007 |
6640 |
9 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
140C>T |
Thr47Ile |
M0027575 |
BHICLIJG_00007 |
6659 |
11 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
121T>C |
Leu41Leu |
M0027576 |
BHICLIJG_00007 |
6663 |
10 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
117C>T |
Phe39Phe |
M0027577 |
BHICLIJG_00007 |
6669 |
10 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
111C>T |
His37His |
M0027578 |
BHICLIJG_00007 |
6681 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
99G>A |
Glu33Glu |
M0027579 |
BHICLIJG_00008 |
7076 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1149A>G |
Lys383Lys |
M0027580 |
BHICLIJG_00008 |
8079 |
8 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
146G>A |
Arg49His |
M0027581 |
BHICLIJG_00009 |
8977 |
7 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
722T>C |
Val241Ala |
M0027582 |
BHICLIJG_00013 |
13611 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
475A>G |
Ile159Val |
M0027583 |
BHICLIJG_00013 |
13631 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
495T>C |
Gly165Gly |
M0027584 |
BHICLIJG_00013 |
13672 |
6 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
536T>C |
Val179Ala |
M0027585 |
BHICLIJG_00013 |
13703 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
567G>A |
Arg189Arg |
M0027586 |
BHICLIJG_00014 |
14109 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
165T>C |
His55His |
M0027587 |
BHICLIJG_00016 |
16946 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1033A>G |
Ile345Val |
M0027588 |
BHICLIJG_00016 |
16993 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1080T>C |
Ser360Ser |
M0027589 |
BHICLIJG_00016 |
17002 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1089A>G |
Glu363Glu |
M0027590 |
BHICLIJG_00011 |
11711 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
391C>T |
Leu131Leu |
M0027591 |
BHICLIJG_00011 |
11742 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
360A>G |
Glu120Glu |
M0027592 |
BHICLIJG_00011 |
11763 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
339C>T |
Gly113Gly |
M0027593 |
BHICLIJG_00013 |
13687 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
551T>C |
Val184Ala |
M0027594 |
BHICLIJG_00011 |
11121 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
981A>G |
Gly327Gly |
M0027595 |
BHICLIJG_00011 |
11157 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
945C>T |
Ile315Ile |
M0027596 |
BHICLIJG_00011 |
11202 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
900C>G |
Ser300Ser |
M0027597 |
BHICLIJG_00011 |
11215 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
887A>C |
Asp296Ala |
M0027598 |
BHICLIJG_00011 |
11217 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
885T>C |
Pro295Pro |
M0027599 |
BHICLIJG_00011 |
11219 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
883C>G |
Pro295Ala |
M0027600 |
BHICLIJG_00011 |
11304 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
798C>T |
Ser266Ser |
M0027601 |
BHICLIJG_00011 |
11316 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
786C>A |
Pro262Pro |
M0027602 |
BHICLIJG_00011 |
11326 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
776C>T |
Ala259Val |
M0027603 |
BHICLIJG_00011 |
11454 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
648G>A |
Pro216Pro |
M0027604 |
BHICLIJG_00011 |
11537 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
565C>A |
Pro189Thr |
M0027605 |
BHICLIJG_00011 |
11544 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
558C>T |
Val186Val |
M0027606 |
BHICLIJG_00011 |
11545 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
557T>C |
Val186Ala |
M0027607 |
BHICLIJG_00011 |
11925 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
177C>T |
His59His |
M0027608 |
BHICLIJG_00011 |
11930 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
172C>G |
Leu58Val |
M0027609 |
BHICLIJG_00011 |
12024 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
78A>G |
Gly26Gly |
M0027610 |
BHICLIJG_00008 |
12144 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3920A>T |
None |
M0027611 |
BHICLIJG_00008 |
12162 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3938C>T |
None |
M0027612 |
BHICLIJG_00012 |
12355 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
9G>A |
Lys3Lys |
M0027613 |
BHICLIJG_00012 |
12407 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
61G>A |
Asp21Asn |
M0027614 |
BHICLIJG_00012 |
12436 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
90G>A |
Leu30Leu |
M0027615 |
BHICLIJG_00012 |
12535 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
189G>C |
Val63Val |
M0027616 |
BHICLIJG_00012 |
12544 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
198G>A |
Lys66Lys |
M0027617 |
BHICLIJG_00012 |
12571 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
225T>C |
Ala75Ala |
M0027618 |
BHICLIJG_00012 |
12591 |
6 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
245G>A |
Arg82Lys |
M0027619 |
BHICLIJG_00012 |
12700 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
354T>C |
Gly118Gly |
M0027620 |
BHICLIJG_00012 |
12808 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
462T>C |
Ala154Ala |
M0027621 |
BHICLIJG_00012 |
12907 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
561G>A |
Thr187Thr |
M0027622 |
BHICLIJG_00012 |
12952 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
606T>G |
Thr202Thr |
M0027623 |
BHICLIJG_00012 |
12985 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
639G>C |
Gly213Gly |
M0027624 |
BHICLIJG_00012 |
13036 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
690C>A |
Ala230Ala |
M0027625 |
BHICLIJG_00012 |
13042 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
696G>A |
Arg232Arg |
M0027626 |
BHICLIJG_00012 |
13078 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
732T>C |
Asp244Asp |
M0027627 |
BHICLIJG_00012 |
13105 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
759T>C |
Ser253Ser |
M0027628 |
BHICLIJG_00013 |
13211 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
75G>A |
Val25Val |
M0027629 |
BHICLIJG_00013 |
13241 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
105T>G |
Ile35Met |
M0027630 |
BHICLIJG_00013 |
13259 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
123G>T |
Leu41Leu |
M0027631 |
BHICLIJG_00013 |
13271 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
135T>C |
Thr45Thr |
M0027632 |
BHICLIJG_00013 |
13343 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
207T>G |
Val69Val |
M0027633 |
BHICLIJG_00013 |
13346 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
210T>C |
Ile70Ile |
M0027634 |
BHICLIJG_00013 |
13430 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
294T>C |
Ala98Ala |
M0027635 |
BHICLIJG_00013 |
13449 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
313A>G |
Thr105Ala |
M0027636 |
BHICLIJG_00013 |
13787 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
651A>G |
Glu217Glu |
M0027637 |
BHICLIJG_00011 |
13842 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1741T>C |
None |
M0027638 |
BHICLIJG_00011 |
13845 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1744C>T |
None |
M0027639 |
BHICLIJG_00011 |
13923 |
6 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1822T>G |
None |
M0027640 |
BHICLIJG_00014 |
13975 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
31C>T |
Arg11Trp |
M0027641 |
BHICLIJG_00014 |
14003 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
59A>G |
His20Arg |
M0027642 |
BHICLIJG_00014 |
14157 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
213G>A |
Met71Ile |
M0027643 |
BHICLIJG_00014 |
14436 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
492T>C |
Ser164Ser |
M0027644 |
BHICLIJG_00014 |
14450 |
6 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
506A>G |
Glu169Gly |
M0027645 |
BHICLIJG_00014 |
14497 |
6 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
553A>G |
Thr185Ala |
M0027646 |
BHICLIJG_00014 |
14526 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
582T>C |
Ile194Ile |
M0027647 |
BHICLIJG_00014 |
14535 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
591C>T |
Pro197Pro |
M0027648 |
BHICLIJG_00014 |
14607 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
663T>C |
Asp221Asp |
M0027649 |
BHICLIJG_00014 |
14610 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
666A>G |
Glu222Glu |
M0027650 |
BHICLIJG_00014 |
14739 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
795C>T |
Tyr265Tyr |
M0027651 |
BHICLIJG_00014 |
14857 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
913G>A |
Ala305Thr |
M0027652 |
BHICLIJG_00014 |
14889 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
945A>G |
Gly315Gly |
M0027653 |
BHICLIJG_00014 |
14973 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1029C>T |
Asp343Asp |
M0027654 |
BHICLIJG_00014 |
15023 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1079T>C |
Val360Ala |
M0027655 |
BHICLIJG_00014 |
15031 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1087C>A |
Arg363Arg |
M0027656 |
BHICLIJG_00014 |
15183 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1239T>C |
Ala413Ala |
M0027657 |
BHICLIJG_00015 |
15251 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
39G>C |
Thr13Thr |
M0027658 |
BHICLIJG_00015 |
15396 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
184C>T |
Arg62Trp |
M0027659 |
BHICLIJG_00015 |
15440 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
228C>G |
Arg76Arg |
M0027660 |
BHICLIJG_00015 |
15524 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
312C>T |
Ile104Ile |
M0027661 |
BHICLIJG_00015 |
15554 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
342C>T |
Thr114Thr |
M0027662 |
BHICLIJG_00015 |
15576 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
364A>G |
Ile122Val |
M0027663 |
BHICLIJG_00015 |
15578 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
366C>T |
Ile122Ile |
M0027664 |
BHICLIJG_00015 |
15620 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
408T>C |
Leu136Leu |
M0027665 |
BHICLIJG_00015 |
15705 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
493T>C |
Leu165Leu |
M0027666 |
BHICLIJG_00015 |
15714 |
7 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
502A>C |
Asn168His |
M0027667 |
BHICLIJG_00015 |
15755 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
543C>T |
Val181Val |
M0027668 |
BHICLIJG_00015 |
15835 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
623T>G |
Leu208Trp |
M0027669 |
BHICLIJG_00015 |
15864 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
652A>C |
Lys218Gln |
M0027670 |
BHICLIJG_00015 |
15910 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
698C>T |
Thr233Ile |
M0027671 |
BHICLIJG_00016 |
15947 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
34A>G |
Lys12Glu |
M0027672 |
BHICLIJG_00016 |
15979 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
66T>G |
Arg22Arg |
M0027673 |
BHICLIJG_00016 |
15998 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
85T>G |
Leu29Val |
M0027674 |
BHICLIJG_00016 |
16096 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
183T>C |
Tyr61Tyr |
M0027675 |
BHICLIJG_00016 |
16144 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
231A>G |
Glu77Glu |
M0027676 |
BHICLIJG_00016 |
16338 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
425T>C |
Val142Ala |
M0027677 |
BHICLIJG_00016 |
16339 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
426C>T |
Val142Val |
M0027678 |
BHICLIJG_00016 |
16652 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
739C>A |
Leu247Met |
M0027679 |
BHICLIJG_00016 |
16752 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
839A>G |
His280Arg |
M0027680 |
BHICLIJG_00016 |
16915 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1002C>T |
Thr334Thr |
M0027681 |
BHICLIJG_00016 |
16948 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1035C>T |
Ile345Ile |
M0027682 |
BHICLIJG_00016 |
17053 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1140G>A |
Leu380Leu |
M0027683 |
BHICLIJG_00016 |
17092 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1179A>G |
Arg393Arg |
M0027684 |
BHICLIJG_00016 |
17159 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1246G>A |
Ala416Thr |
M0027685 |
BHICLIJG_00018 |
17339 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1409G>A |
None |
M0027686 |
BHICLIJG_00018 |
17343 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1405T>C |
None |
M0027687 |
BHICLIJG_00018 |
17393 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1355G>A |
None |
M0027688 |
BHICLIJG_00018 |
17404 |
6 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1344G>C |
None |
M0027689 |
BHICLIJG_00018 |
17515 |
6 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1233G>C |
None |
M0027690 |
BHICLIJG_00018 |
17534 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1214C>A |
None |
M0027691 |
BHICLIJG_00018 |
17555 |
6 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1193A>G |
None |
M0027692 |
BHICLIJG_00018 |
17560 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1188T>C |
None |
M0027693 |
BHICLIJG_00018 |
17563 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1185T>G |
None |
M0027694 |
BHICLIJG_00018 |
17576 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1172G>A |
None |
M0027695 |
BHICLIJG_00018 |
17619 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1129T>C |
None |
M0027696 |
BHICLIJG_00018 |
17670 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1078A>G |
None |
M0027697 |
BHICLIJG_00018 |
17671 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1077C>A |
None |
M0027698 |
BHICLIJG_00018 |
17696 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1052G>A |
None |
M0027699 |
BHICLIJG_00018 |
17935 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-813G>A |
None |
M0027700 |
BHICLIJG_00018 |
17951 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-797C>T |
None |
M0027701 |
BHICLIJG_00018 |
18018 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-730C>T |
None |
M0027702 |
BHICLIJG_00018 |
18024 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-724T>C |
None |
M0027703 |
BHICLIJG_00018 |
18315 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-433G>A |
None |
M0027704 |
BHICLIJG_00018 |
18451 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-297T>G |
None |
M0027705 |
BHICLIJG_00018 |
18467 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-281C>T |
None |
M0027706 |
BHICLIJG_00018 |
18468 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-280A>G |
None |
M0027707 |
BHICLIJG_00018 |
18515 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-233C>T |
None |
M0027708 |
BHICLIJG_00018 |
18562 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-186C>T |
None |
M0027709 |
BHICLIJG_00018 |
18632 |
6 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-116A>G |
None |
M0027710 |
BHICLIJG_00018 |
18653 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-95G>A |
None |
M0027711 |
BHICLIJG_00018 |
18689 |
6 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-59T>C |
None |
M0027712 |
BHICLIJG_00018 |
18718 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-30T>A |
None |
M0027713 |
BHICLIJG_00018 |
18742 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-6T>C |
None |
M0027714 |
BHICLIJG_00018 |
18750 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
3G>A |
Val1Val |
M0027715 |
BHICLIJG_00018 |
18803 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
56G>A |
Gly19Asp |
M0027716 |
BHICLIJG_00018 |
18857 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
110T>C |
Val37Ala |
M0027717 |
BHICLIJG_00018 |
18872 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
125A>G |
Asp42Gly |
M0027718 |
BHICLIJG_00018 |
18902 |
6 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
155G>A |
Cys52Tyr |
M0027719 |
BHICLIJG_00018 |
18963 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
216C>T |
Ala72Ala |
M0027720 |
BHICLIJG_00018 |
18965 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
218C>T |
Thr73Met |
M0027721 |
BHICLIJG_00018 |
18991 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
244C>A |
Arg82Ser |
M0027722 |
BHICLIJG_00018 |
18996 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
249A>G |
Arg83Arg |
M0027723 |
BHICLIJG_00018 |
19000 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
253T>C |
Ser85Pro |
M0027724 |
BHICLIJG_00008 |
7271 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
954C>T |
Val318Val |
M0027725 |
BHICLIJG_00007 |
9371 |
6 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2592G>T |
None |
M0027726 |
BHICLIJG_00010 |
10179 |
8 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
392C>A |
Ala131Asp |
M0027727 |
BHICLIJG_00012 |
13098 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
752A>G |
Glu251Gly |
M0027728 |
BHICLIJG_00007 |
6252 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
528G>A |
Ala176Ala |
M0027729 |
BHICLIJG_00007 |
6756 |
10 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
24G>A |
Gln8Gln |
M0027730 |
BHICLIJG_00002 |
6800 |
10 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4606A>G |
None |
M0027731 |
BHICLIJG_00002 |
6801 |
10 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4607C>T |
None |
M0027732 |
BHICLIJG_00002 |
6807 |
10 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4613G>T |
None |
M0027733 |
BHICLIJG_00002 |
6812 |
10 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4618G>A |
None |
M0027734 |
BHICLIJG_00008 |
6850 |
10 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1375A>G |
Asn459Asp |
M0027735 |
BHICLIJG_00008 |
6914 |
10 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1311G>A |
Lys437Lys |
M0027736 |
BHICLIJG_00008 |
6935 |
10 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1290T>C |
Leu430Leu |
M0027737 |
BHICLIJG_00008 |
6950 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1275C>G |
Thr425Thr |
M0027738 |
BHICLIJG_00008 |
7283 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
942G>A |
Ser314Ser |
M0027739 |
BHICLIJG_00008 |
7370 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
855C>T |
Arg285Arg |
M0027740 |
BHICLIJG_00008 |
7418 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
807A>G |
Gly269Gly |
M0027741 |
BHICLIJG_00008 |
7454 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
771G>A |
Glu257Glu |
M0027742 |
BHICLIJG_00008 |
7457 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
768T>C |
Ala256Ala |
M0027743 |
BHICLIJG_00008 |
7826 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
399C>T |
Ala133Ala |
M0027744 |
BHICLIJG_00008 |
7857 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
368A>C |
Lys123Thr |
M0027745 |
BHICLIJG_00008 |
7865 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
360G>C |
Lys120Asn |
M0027746 |
BHICLIJG_00008 |
7904 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
321G>A |
Glu107Glu |
M0027747 |
BHICLIJG_00008 |
8135 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
90T>G |
Val30Val |
M0027748 |
BHICLIJG_00009 |
8423 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
168A>G |
Gly56Gly |
M0027749 |
BHICLIJG_00009 |
8429 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
174G>A |
Gly58Gly |
M0027750 |
BHICLIJG_00009 |
8513 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
258T>C |
Asp86Asp |
M0027751 |
BHICLIJG_00009 |
8516 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
261T>C |
Pro87Pro |
M0027752 |
BHICLIJG_00009 |
8520 |
9 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
265G>T |
Ala89Ser |
M0027753 |
BHICLIJG_00009 |
8521 |
9 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
266C>T |
Ala89Val |
M0027754 |
BHICLIJG_00009 |
8539 |
9 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
284A>G |
Glu95Gly |
M0027755 |
BHICLIJG_00009 |
8705 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
450C>T |
Ala150Ala |
M0027756 |
BHICLIJG_00009 |
8715 |
7 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
460C>G |
Leu154Val |
M0027757 |
BHICLIJG_00009 |
8757 |
7 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
502G>A |
Gly168Arg |
M0027758 |
BHICLIJG_00009 |
9131 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
876C>T |
Phe292Phe |
M0027759 |
BHICLIJG_00009 |
9137 |
8 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
882G>A |
Gly294Gly |
M0027760 |
BHICLIJG_00009 |
9239 |
8 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
984G>A |
Met328Ile |
M0027761 |
BHICLIJG_00007 |
9265 |
8 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2486A>G |
None |
M0027762 |
BHICLIJG_00007 |
9270 |
8 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2491A>G |
None |
M0027763 |
BHICLIJG_00007 |
9345 |
7 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2566T>C |
None |
M0027764 |
BHICLIJG_00007 |
9357 |
7 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2578T>C |
None |
M0027765 |
BHICLIJG_00007 |
9361 |
7 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2582C>T |
None |
M0027766 |
BHICLIJG_00007 |
9382 |
7 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2603C>T |
None |
M0027767 |
BHICLIJG_00007 |
9613 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2834A>G |
None |
M0027768 |
BHICLIJG_00007 |
9614 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2835A>G |
None |
M0027769 |
BHICLIJG_00007 |
9619 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2840T>C |
None |
M0027770 |
BHICLIJG_00007 |
9638 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2859G>A |
None |
M0027771 |
BHICLIJG_00007 |
9662 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2883C>A |
None |
M0027772 |
BHICLIJG_00007 |
9697 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2918A>G |
None |
M0027773 |
BHICLIJG_00007 |
9698 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2919G>A |
None |
M0027774 |
BHICLIJG_00007 |
9701 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2922T>C |
None |
M0027775 |
BHICLIJG_00007 |
9703 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2924C>T |
None |
M0027776 |
BHICLIJG_00007 |
9733 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2954A>G |
None |
M0027777 |
BHICLIJG_00007 |
9740 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2961A>G |
None |
M0027778 |
BHICLIJG_00007 |
9742 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2963A>G |
None |
M0027779 |
BHICLIJG_00007 |
9751 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2972C>A |
None |
M0027780 |
BHICLIJG_00007 |
9760 |
5 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2981C>T |
None |
M0027781 |
BHICLIJG_00010 |
9809 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
22G>A |
Val8Ile |
M0027782 |
BHICLIJG_00010 |
9850 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
63T>C |
Asn21Asn |
M0027783 |
BHICLIJG_00010 |
9901 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
114T>C |
Tyr38Tyr |
M0027784 |
BHICLIJG_00010 |
9936 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
149C>A |
Thr50Lys |
M0027785 |
BHICLIJG_00010 |
9944 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
157G>A |
Val53Ile |
M0027786 |
BHICLIJG_00010 |
10039 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
252T>C |
Gly84Gly |
M0027787 |
BHICLIJG_00010 |
10051 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
264T>C |
Gly88Gly |
M0027788 |
BHICLIJG_00010 |
10069 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
282T>G |
Thr94Thr |
M0027789 |
BHICLIJG_00010 |
10075 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
288T>C |
Pro96Pro |
M0027790 |
BHICLIJG_00010 |
10108 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
321T>C |
Ile107Ile |
M0027791 |
BHICLIJG_00010 |
10195 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
408T>C |
Asn136Asn |
M0027792 |
BHICLIJG_00010 |
10228 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
441T>C |
Asp147Asp |
M0027793 |
BHICLIJG_00010 |
10243 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
456T>C |
Pro152Pro |
M0027794 |
BHICLIJG_00010 |
10252 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
465T>C |
His155His |
M0027795 |
BHICLIJG_00010 |
10259 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
472T>C |
Cys158Arg |
M0027796 |
BHICLIJG_00010 |
10330 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
543T>C |
Gly181Gly |
M0027797 |
BHICLIJG_00010 |
10426 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
639A>G |
Lys213Lys |
M0027798 |
BHICLIJG_00010 |
10438 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
651T>C |
Ala217Ala |
M0027799 |
BHICLIJG_00010 |
10708 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
921A>C |
Glu307Asp |
M0027800 |
BHICLIJG_00010 |
10709 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
922G>A |
Gly308Ser |
M0027801 |
BHICLIJG_00007 |
10729 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3950A>G |
None |
M0027802 |
BHICLIJG_00007 |
10736 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3957C>A |
None |
M0027803 |
BHICLIJG_00007 |
10737 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3958T>C |
None |
M0027804 |
BHICLIJG_00007 |
10743 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3964T>G |
None |
M0027805 |
BHICLIJG_00007 |
10770 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3991G>A |
None |
M0027806 |
BHICLIJG_00007 |
10772 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3993A>G |
None |
M0027807 |
BHICLIJG_00007 |
10773 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3994C>G |
None |
M0027808 |
BHICLIJG_00011 |
10795 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1307T>C |
Leu436Ser |
M0027809 |
BHICLIJG_00011 |
10796 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1306T>A |
Leu436Ile |
M0027810 |
BHICLIJG_00011 |
10808 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1294A>G |
Thr432Ala |
M0027811 |
BHICLIJG_00011 |
10859 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1243G>A |
Asp415Asn |
M0027812 |
BHICLIJG_00011 |
10875 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1227A>C |
Leu409Leu |
M0027813 |
BHICLIJG_00014 |
19165 |
4 |
Skin |
0.03 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3949C>T |
None |
M0027814 |
BHICLIJG_00014 |
19186 |
4 |
Skin |
0.03 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3970G>A |
None |
M0027815 |
BHICLIJG_00019 |
19246 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
794A>G |
Asp265Gly |
M0027816 |
BHICLIJG_00019 |
19461 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
579A>G |
Lys193Lys |
M0027817 |
BHICLIJG_00019 |
19464 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
576C>T |
Ser192Ser |
M0027818 |
BHICLIJG_00019 |
19517 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
523C>T |
Leu175Phe |
M0027819 |
BHICLIJG_00019 |
19518 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
522T>A |
Ser174Ser |
M0027820 |
BHICLIJG_00019 |
19520 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
520T>A |
Ser174Thr |
M0027821 |
BHICLIJG_00019 |
19545 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
495T>C |
Pro165Pro |
M0027822 |
BHICLIJG_00019 |
19563 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
477G>A |
Leu159Leu |
M0027823 |
BHICLIJG_00019 |
19620 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
420T>C |
Asp140Asp |
M0027824 |
BHICLIJG_00019 |
19650 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
390T>C |
Gly130Gly |
M0027825 |
BHICLIJG_00019 |
19731 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
309C>A |
Ala103Ala |
M0027826 |
BHICLIJG_00019 |
19772 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
268G>A |
Ala90Thr |
M0027827 |
BHICLIJG_00019 |
19826 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
214A>G |
Asn72Asp |
M0027828 |
BHICLIJG_00019 |
19890 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
150G>C |
Thr50Thr |
M0027829 |
BHICLIJG_00019 |
19905 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
135C>T |
Pro45Pro |
M0027830 |
BHICLIJG_00019 |
19959 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
81C>T |
Ala27Ala |
M0027831 |
BHICLIJG_00019 |
19998 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
42G>A |
Leu14Leu |
M0027832 |
BHICLIJG_00019 |
20078 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-39C>A |
None |
M0027833 |
BHICLIJG_00019 |
20084 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-45C>T |
None |
M0027834 |
BHICLIJG_00005 |
5183 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
205G>A |
Ala69Thr |
M0027835 |
BHICLIJG_00005 |
5219 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
241A>G |
Ser81Gly |
M0027836 |
BHICLIJG_00005 |
5263 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
285A>G |
Val95Val |
M0027837 |
BHICLIJG_00005 |
5357 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
379C>T |
Arg127Cys |
M0027838 |
BHICLIJG_00005 |
5384 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
406G>A |
Ala136Thr |
M0027839 |
BHICLIJG_00016 |
17019 |
8 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1106T>C |
Val369Ala |
M0027840 |
BHICLIJG_00001 |
854 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
587G>A |
Arg196His |
M0027841 |
BHICLIJG_00011 |
11551 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
551G>A |
Arg184Gln |
M0027842 |
BHICLIJG_00012 |
12693 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
347A>G |
Asn116Ser |
M0027843 |
BHICLIJG_00012 |
12838 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
492C>T |
Pro164Pro |
M0027844 |
BHICLIJG_00002 |
1883 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
312G>A |
Ala104Ala |
M0027845 |
BHICLIJG_00002 |
1910 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
285C>G |
Ser95Ser |
M0027846 |
BHICLIJG_00003 |
3328 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1116C>T |
Tyr372Tyr |
M0027847 |
BHICLIJG_00003 |
3349 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1137A>C |
Thr379Thr |
M0027848 |
BHICLIJG_00003 |
3354 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1142G>A |
Ser381Asn |
M0027849 |
BHICLIJG_00003 |
3394 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1182C>T |
Ala394Ala |
M0027850 |
BHICLIJG_00003 |
3569 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1357G>A |
Glu453Lys |
M0027851 |
BHICLIJG_00003 |
3572 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1360C>T |
Pro454Ser |
M0027852 |
BHICLIJG_00003 |
3575 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1363C>G |
Gln455Glu |
M0027853 |
BHICLIJG_00003 |
3601 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1389A>G |
Pro463Pro |
M0027854 |
BHICLIJG_00003 |
3628 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1416T>G |
Ala472Ala |
M0027855 |
BHICLIJG_00003 |
3632 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1420C>A |
Arg474Arg |
M0027856 |
BHICLIJG_00002 |
2073 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
122G>A |
Arg41His |
M0027857 |
BHICLIJG_00002 |
2090 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
105C>T |
Ile35Ile |
M0027858 |
BHICLIJG_00002 |
2116 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
79G>A |
Val27Met |
M0027859 |
BHICLIJG_00004 |
4265 |
6 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
113A>G |
His38Arg |
M0027860 |
BHICLIJG_00004 |
4305 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
153C>T |
Arg51Arg |
M0027861 |
BHICLIJG_00004 |
4368 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
216C>T |
Val72Val |
M0027862 |
BHICLIJG_00004 |
4377 |
6 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
225G>T |
Gln75His |
M0027863 |
BHICLIJG_00004 |
4422 |
7 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
270T>C |
Leu90Leu |
M0027864 |
BHICLIJG_00004 |
4587 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
435G>A |
Ala145Ala |
M0027865 |
BHICLIJG_00004 |
4653 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
501C>T |
Ile167Ile |
M0027866 |
BHICLIJG_00004 |
4705 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
553T>C |
Cys185Arg |
M0027867 |
BHICLIJG_00004 |
4797 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
645G>A |
Thr215Thr |
M0027868 |
BHICLIJG_00003 |
3115 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
903C>T |
Gly301Gly |
M0027869 |
BHICLIJG_00003 |
3516 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1304A>G |
His435Arg |
M0027870 |
BHICLIJG_00009 |
8821 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
566T>C |
Ile189Thr |
M0027871 |
BHICLIJG_00018 |
17299 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1449C>T |
None |
M0027872 |
BHICLIJG_00007 |
9321 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2542G>A |
None |
M0027873 |
BHICLIJG_00003 |
3851 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1639C>T |
Leu547Leu |
M0027874 |
BHICLIJG_00003 |
3925 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1713C>T |
Asp571Asp |
M0027875 |
BHICLIJG_00007 |
5856 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
924C>T |
Ile308Ile |
M0027876 |
BHICLIJG_00002 |
1513 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
682G>A |
Ala228Thr |
Analysis of virulence factors contributing to bacterial pathogenicity
This table presents virulence factors identified within the plasmid cluster.
Note: Virulence factor analysis was performed using VFDB. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known virulence factors are listed.
Gene Name |
vf_gene_id |
vf_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
vf_category |
gene_description |
condition |
Analysis of biocide and heavy metal resistance genes to assess antimicrobial risk and environmental impact
This table presents biocides and heavy metals resistance genes identified within the plasmid cluster.
Note: Analyzing biocide and heavy metal resistance genes based on BacMet to evaluate bacterial resistance risk and the potential impact of environmental heavy metal contamination. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, E-value < 1e-5) to known biocide and heavy metal resistance genes are listed.
Gene Name |
compound |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
group |
Analyzing antimicrobial resistance genes to assess bacterial resistance to antibiotics and other antimicrobial agents
This table presents antimicrobial resistance genes identified within the plasmid cluster.
Note: Antimicrobial resistance was performed using CARD. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known antimicrobial resistance genes are listed.
Gene Name |
aro_accession |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
drug_class |
amr_gene_family |
resistance_mechanism |
Analysis of pathogenicity genes to explore pathogen-host interactions
This table presents host pathogen-host interactions within the plasmid cluster.
Note: Analyzing pathogenicity-related genes using PHI-base to understand pathogen virulence mechanisms and their impact on host interactions. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e-5) to known pathogenicity-related genes are listed.
Gene Name |
phi_molconn_id |
host gene_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
host_descripton |
disease_name |
function |
phenotype_of_mutant |
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 |
BHICLIJG_00008 |
QEW95614.1|GT20 |
100 |
0 |
1 |
467 |
1 |
1 |
Analyzing transport proteins to understand bacterial strategies for substrate uptake and detoxification
This table presents transport proteins within the plasmid cluster.
Note: Investigation of transport proteins based on TCDB to uncover bacterial mechanisms of substrate transport and environmental detoxification. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known transport protein entries are listed.
Gene Name |
tcid |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
class_field |
class_term |
subclass |
subclass_term |
family |
family_term |