Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C1220 |
Reference Plasmid |
NZ_CP136362.1 |
Reference Plasmid Size |
48113 |
Reference Plasmid GC Content |
0.63 |
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 |
M0114447 |
EOACHPAF_00045 |
38994 |
22 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1217T>C |
Leu406Ser |
M0114448 |
EOACHPAF_00045 |
39127 |
9 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1350C>T |
Gly450Gly |
M0114449 |
EOACHPAF_00009 |
5529 |
30 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
415G>A |
Val139Ile |
M0114450 |
EOACHPAF_00014 |
9937 |
12 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
97A>G |
Thr33Ala |
M0114451 |
EOACHPAF_00014 |
10010 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
24C>T |
Leu8Leu |
M0114452 |
EOACHPAF_00015 |
10354 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
558A>G |
Thr186Thr |
M0114453 |
EOACHPAF_00015 |
10378 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
534A>G |
Ser178Ser |
M0114454 |
EOACHPAF_00015 |
10480 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
432A>G |
Ala144Ala |
M0114455 |
EOACHPAF_00015 |
10504 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
408C>T |
Asp136Asp |
M0114456 |
EOACHPAF_00015 |
10795 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
117C>T |
Gly39Gly |
M0114457 |
EOACHPAF_00015 |
10852 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
60A>G |
Leu20Leu |
M0114458 |
EOACHPAF_00015 |
10855 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
57A>C |
Ser19Ser |
M0114459 |
EOACHPAF_00015 |
10867 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
45C>G |
Leu15Leu |
M0114460 |
EOACHPAF_00016 |
11289 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
231T>C |
Thr77Thr |
M0114461 |
EOACHPAF_00017 |
11559 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
3072C>T |
Ile1024Ile |
M0114462 |
EOACHPAF_00017 |
11568 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
3063C>T |
Thr1021Thr |
M0114463 |
EOACHPAF_00017 |
11580 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
3051C>G |
Leu1017Leu |
M0114464 |
EOACHPAF_00017 |
11582 |
10 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
3049C>T |
Leu1017Phe |
M0114465 |
EOACHPAF_00017 |
11583 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
3048C>T |
Asp1016Asp |
M0114466 |
EOACHPAF_00017 |
11589 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
3042C>T |
Gly1014Gly |
M0114467 |
EOACHPAF_00017 |
11595 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
3036A>C |
Arg1012Arg |
M0114468 |
EOACHPAF_00017 |
11598 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
3033C>A |
Arg1011Arg |
M0114469 |
EOACHPAF_00017 |
11601 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
3030A>G |
Ala1010Ala |
M0114470 |
EOACHPAF_00017 |
11613 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
3018G>A |
Leu1006Leu |
M0114471 |
EOACHPAF_00017 |
11616 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
3015C>T |
His1005His |
M0114472 |
EOACHPAF_00017 |
11622 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
3009C>T |
Val1003Val |
M0114473 |
EOACHPAF_00017 |
11661 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2970A>G |
Glu990Glu |
M0114474 |
EOACHPAF_00017 |
11672 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
2959C>G |
Leu987Val |
M0114475 |
EOACHPAF_00017 |
11676 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2955T>A |
Gly985Gly |
M0114476 |
EOACHPAF_00017 |
11679 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2952C>T |
Ala984Ala |
M0114477 |
EOACHPAF_00017 |
11682 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2949C>A |
Val983Val |
M0114478 |
EOACHPAF_00056 |
46862 |
14 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
561G>A |
Glu187Glu |
M0114479 |
EOACHPAF_00056 |
46892 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
591G>A |
Leu197Leu |
M0114480 |
EOACHPAF_00056 |
46901 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
600G>A |
Glu200Glu |
M0114481 |
EOACHPAF_00056 |
46918 |
7 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
617A>G |
His206Arg |
M0114482 |
EOACHPAF_00056 |
46919 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
618C>T |
His206His |
M0114483 |
EOACHPAF_00056 |
46949 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
648C>T |
Asp216Asp |
M0114484 |
EOACHPAF_00057 |
47354 |
29 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
186G>A |
Arg62Arg |
M0114485 |
EOACHPAF_00057 |
47444 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
276G>A |
Glu92Glu |
M0114486 |
EOACHPAF_00057 |
47525 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
357T>C |
Gly119Gly |
M0114487 |
EOACHPAF_00051 |
47565 |
19 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4743A>C |
None |
M0114488 |
EOACHPAF_00051 |
47610 |
36 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4788A>G |
None |
M0114489 |
EOACHPAF_00051 |
47635 |
8 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4813G>A |
None |
M0114490 |
EOACHPAF_00059 |
48028 |
6 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
71T>C |
Ile24Thr |
M0114491 |
EOACHPAF_00059 |
48053 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
46T>C |
Cys16Arg |
M0114492 |
EOACHPAF_00050 |
42060 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
417G>A |
Gln139Gln |
M0114493 |
EOACHPAF_00050 |
42129 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
348T>C |
Ser116Ser |
M0114494 |
EOACHPAF_00050 |
42135 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
342G>C |
Leu114Leu |
M0114495 |
EOACHPAF_00050 |
42188 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
289T>C |
Leu97Leu |
M0114496 |
EOACHPAF_00050 |
42191 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
286C>T |
Leu96Leu |
M0114497 |
EOACHPAF_00050 |
42192 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
285G>A |
Glu95Glu |
M0114498 |
EOACHPAF_00051 |
42535 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
288G>A |
Thr96Thr |
M0114499 |
EOACHPAF_00051 |
42553 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
270G>T |
Glu90Asp |
M0114500 |
EOACHPAF_00051 |
42563 |
7 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
260G>A |
Arg87His |
M0114501 |
EOACHPAF_00051 |
42613 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
210T>C |
Asp70Asp |
M0114502 |
EOACHPAF_00049 |
42913 |
8 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1207G>A |
None |
M0114503 |
EOACHPAF_00052 |
43017 |
8 |
Skin |
0.04 |
protein_coding |
stop_gained |
HIGH |
24G>A |
Trp8* |
M0114504 |
EOACHPAF_00052 |
43024 |
8 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
31T>C |
Phe11Leu |
M0114505 |
EOACHPAF_00052 |
43035 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
42A>G |
Ser14Ser |
M0114506 |
EOACHPAF_00052 |
43045 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
52A>G |
Met18Val |
M0114507 |
EOACHPAF_00052 |
43058 |
7 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
65C>A |
Ser22Tyr |
M0114508 |
EOACHPAF_00052 |
43059 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
66T>G |
Ser22Ser |
M0114509 |
EOACHPAF_00052 |
43082 |
7 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
89A>T |
Glu30Val |
M0114510 |
EOACHPAF_00052 |
43119 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
126G>A |
Pro42Pro |
M0114511 |
EOACHPAF_00052 |
43128 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
135A>G |
Arg45Arg |
M0114512 |
EOACHPAF_00052 |
43129 |
10 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
136A>T |
Thr46Ser |
M0114513 |
EOACHPAF_00052 |
43180 |
8 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
187G>T |
Ala63Ser |
M0114514 |
EOACHPAF_00052 |
43184 |
8 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
191A>C |
Asp64Ala |
M0114515 |
EOACHPAF_00052 |
43266 |
9 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
273T>C |
Ala91Ala |
M0114516 |
EOACHPAF_00052 |
43287 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
294G>A |
Gln98Gln |
M0114517 |
EOACHPAF_00052 |
43314 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
321C>T |
Ala107Ala |
M0114518 |
EOACHPAF_00052 |
43329 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
336T>C |
Val112Val |
M0114519 |
EOACHPAF_00052 |
43344 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
351G>C |
Arg117Arg |
M0114520 |
EOACHPAF_00053 |
43517 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
96G>A |
Glu32Glu |
M0114521 |
EOACHPAF_00053 |
43529 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
108A>C |
Gly36Gly |
M0114522 |
EOACHPAF_00053 |
43531 |
10 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
110A>G |
His37Arg |
M0114523 |
EOACHPAF_00053 |
43533 |
10 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
112C>A |
Leu38Ile |
M0114524 |
EOACHPAF_00053 |
43535 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
114T>C |
Leu38Leu |
M0114525 |
EOACHPAF_00053 |
43539 |
10 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
118T>A |
Ser40Thr |
M0114526 |
EOACHPAF_00053 |
43545 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
124T>C |
Leu42Leu |
M0114527 |
EOACHPAF_00053 |
43546 |
10 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
125T>C |
Leu42Ser |
M0114528 |
EOACHPAF_00053 |
43547 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
126G>A |
Leu42Leu |
M0114529 |
EOACHPAF_00053 |
43578 |
10 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
157G>A |
Ala53Thr |
M0114530 |
EOACHPAF_00053 |
43579 |
10 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
158C>T |
Ala53Val |
M0114531 |
EOACHPAF_00053 |
43612 |
10 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
191G>C |
Cys64Ser |
M0114532 |
EOACHPAF_00053 |
43659 |
8 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
238A>G |
Thr80Ala |
M0114533 |
EOACHPAF_00053 |
44040 |
9 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
619G>A |
Asp207Asn |
M0114534 |
EOACHPAF_00053 |
44051 |
9 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
630A>G |
Glu210Glu |
M0114535 |
EOACHPAF_00055 |
45310 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
702T>C |
Tyr234Tyr |
M0114536 |
EOACHPAF_00055 |
45311 |
8 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
703G>A |
Val235Met |
M0114537 |
EOACHPAF_00055 |
45313 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
705G>C |
Val235Val |
M0114538 |
EOACHPAF_00055 |
45319 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
711T>C |
Gly237Gly |
M0114539 |
EOACHPAF_00055 |
45322 |
11 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
714G>A |
Arg238Arg |
M0114540 |
EOACHPAF_00055 |
45340 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
732G>A |
Ser244Ser |
M0114541 |
EOACHPAF_00055 |
45344 |
8 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
736G>A |
Ala246Thr |
M0114542 |
EOACHPAF_00055 |
45346 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
738T>C |
Ala246Ala |
M0114543 |
EOACHPAF_00055 |
45514 |
17 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
906G>A |
Gly302Gly |
M0114544 |
EOACHPAF_00055 |
45697 |
16 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1089G>A |
Lys363Lys |
M0114545 |
EOACHPAF_00055 |
45703 |
16 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1095T>C |
Ile365Ile |
M0114546 |
EOACHPAF_00056 |
46485 |
25 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
184A>G |
Ile62Val |
M0114547 |
EOACHPAF_00058 |
47848 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
156C>A |
Leu52Leu |
M0114548 |
EOACHPAF_00059 |
48089 |
11 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
10A>G |
Thr4Ala |
M0114549 |
EOACHPAF_00039 |
30756 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
186C>T |
Ile62Ile |
M0114550 |
EOACHPAF_00039 |
30768 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
198C>T |
Ala66Ala |
M0114551 |
EOACHPAF_00039 |
30790 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
220A>G |
Ile74Val |
M0114552 |
EOACHPAF_00039 |
30792 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
222C>T |
Ile74Ile |
M0114553 |
EOACHPAF_00039 |
30793 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
223A>G |
Ile75Val |
M0114554 |
EOACHPAF_00039 |
30795 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
225C>T |
Ile75Ile |
M0114555 |
EOACHPAF_00039 |
30798 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
228C>T |
Gly76Gly |
M0114556 |
EOACHPAF_00039 |
30849 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
279C>T |
Arg93Arg |
M0114557 |
EOACHPAF_00040 |
31280 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
69T>C |
Thr23Thr |
M0114558 |
EOACHPAF_00040 |
31416 |
6 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
205G>A |
Ala69Thr |
M0114559 |
EOACHPAF_00040 |
31715 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
504G>A |
Gln168Gln |
M0114560 |
EOACHPAF_00040 |
32463 |
6 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1252A>C |
Asn418His |
M0114561 |
EOACHPAF_00040 |
32464 |
6 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1253A>G |
Asn418Ser |
M0114562 |
EOACHPAF_00040 |
32849 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1638C>T |
Pro546Pro |
M0114563 |
EOACHPAF_00040 |
33014 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1803G>A |
Glu601Glu |
M0114564 |
EOACHPAF_00040 |
33279 |
12 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
2068A>G |
Met690Val |
M0114565 |
EOACHPAF_00040 |
33560 |
9 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2349G>A |
Glu783Glu |
M0114566 |
EOACHPAF_00040 |
33602 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2391C>T |
Gly797Gly |
M0114567 |
EOACHPAF_00040 |
33626 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2415C>T |
Asp805Asp |
M0114568 |
EOACHPAF_00040 |
33629 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2418A>G |
Gln806Gln |
M0114569 |
EOACHPAF_00040 |
33647 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2436G>A |
Glu812Glu |
M0114570 |
EOACHPAF_00040 |
33653 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2442G>A |
Arg814Arg |
M0114571 |
EOACHPAF_00040 |
33656 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2445C>A |
Leu815Leu |
M0114572 |
EOACHPAF_00040 |
33657 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2446T>C |
Leu816Leu |
M0114573 |
EOACHPAF_00040 |
33673 |
7 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
2462G>C |
Gly821Ala |
M0114574 |
EOACHPAF_00041 |
35455 |
9 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1728C>T |
Gly576Gly |
M0114575 |
EOACHPAF_00042 |
36158 |
12 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
290T>C |
Leu97Pro |
M0114576 |
EOACHPAF_00042 |
36681 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
813T>C |
Leu271Leu |
M0114577 |
EOACHPAF_00042 |
36684 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
816C>T |
Pro272Pro |
M0114578 |
EOACHPAF_00043 |
37083 |
8 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
193G>T |
Ala65Ser |
M0114579 |
EOACHPAF_00043 |
37121 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
231C>A |
Pro77Pro |
M0114580 |
EOACHPAF_00043 |
37415 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
525C>A |
Gly175Gly |
M0114581 |
EOACHPAF_00044 |
37474 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-29A>C |
None |
M0114582 |
EOACHPAF_00009 |
5027 |
9 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
917T>C |
Ile306Thr |
M0114583 |
EOACHPAF_00009 |
5141 |
23 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
803A>G |
His268Arg |
M0114584 |
EOACHPAF_00009 |
5243 |
8 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
701G>A |
Gly234Glu |
M0114585 |
EOACHPAF_00009 |
5266 |
13 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
678T>C |
Val226Val |
M0114586 |
EOACHPAF_00009 |
5432 |
8 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
512T>C |
Met171Thr |
M0114587 |
EOACHPAF_00003 |
5953 |
12 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4176G>T |
None |
M0114588 |
EOACHPAF_00003 |
6646 |
32 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4869A>G |
None |
M0114589 |
EOACHPAF_00003 |
6656 |
33 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4879A>G |
None |
M0114590 |
EOACHPAF_00012 |
8097 |
38 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
148A>G |
Ile50Val |
M0114591 |
EOACHPAF_00008 |
8512 |
25 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4140T>C |
None |
M0114592 |
EOACHPAF_00008 |
8566 |
26 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4194G>C |
None |
M0114593 |
EOACHPAF_00013 |
8670 |
22 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
236A>C |
His79Pro |
M0114594 |
EOACHPAF_00013 |
8855 |
21 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
51G>A |
Val17Val |
M0114595 |
EOACHPAF_00013 |
8894 |
19 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
12G>A |
Arg4Arg |
M0114596 |
EOACHPAF_00014 |
9075 |
14 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
959T>A |
Phe320Tyr |
M0114597 |
EOACHPAF_00014 |
9381 |
9 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
653A>C |
Asp218Ala |
M0114598 |
EOACHPAF_00009 |
4401 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1543A>C |
Met515Leu |
M0114599 |
EOACHPAF_00009 |
4429 |
6 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1515C>A |
His505Gln |
M0114600 |
EOACHPAF_00009 |
4943 |
8 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1001G>A |
Arg334Gln |
M0114601 |
EOACHPAF_00053 |
43551 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
130G>A |
Val44Ile |
M0114602 |
EOACHPAF_00053 |
43559 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
138T>C |
Ile46Ile |
M0114603 |
EOACHPAF_00053 |
43562 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
141G>A |
Ala47Ala |
M0114604 |
EOACHPAF_00053 |
43565 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
144G>A |
Ala48Ala |
M0114605 |
EOACHPAF_00053 |
43628 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
207C>T |
Gly69Gly |
M0114606 |
EOACHPAF_00053 |
43629 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
208T>C |
Trp70Arg |
M0114607 |
EOACHPAF_00053 |
43630 |
5 |
Skin |
0.02 |
protein_coding |
stop_gained |
HIGH |
209G>A |
Trp70* |
M0114608 |
EOACHPAF_00053 |
43632 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
211A>G |
Ser71Gly |
M0114609 |
EOACHPAF_00053 |
44034 |
7 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
613G>A |
Val205Met |
M0114610 |
EOACHPAF_00054 |
44210 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
120A>G |
Gln40Gln |
M0114611 |
EOACHPAF_00054 |
44218 |
6 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
128C>A |
Thr43Asn |
M0114612 |
EOACHPAF_00054 |
44258 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
168A>C |
Arg56Arg |
M0114613 |
EOACHPAF_00054 |
44264 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
174A>G |
Lys58Lys |
M0114614 |
EOACHPAF_00056 |
46670 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
369G>A |
Lys123Lys |
M0114615 |
EOACHPAF_00056 |
46673 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
372G>C |
Arg124Arg |
M0114616 |
EOACHPAF_00040 |
31997 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
786C>T |
His262His |
M0114617 |
EOACHPAF_00040 |
32000 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
789T>C |
Ile263Ile |
M0114618 |
EOACHPAF_00040 |
32002 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
791C>T |
Ala264Val |
M0114619 |
EOACHPAF_00040 |
32009 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
798C>T |
Gly266Gly |
M0114620 |
EOACHPAF_00040 |
32519 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1308C>T |
Val436Val |
M0114621 |
EOACHPAF_00040 |
33092 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1881G>T |
Ala627Ala |
M0114622 |
EOACHPAF_00040 |
33134 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1923C>T |
Ser641Ser |
M0114623 |
EOACHPAF_00040 |
33204 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1993T>C |
Leu665Leu |
M0114624 |
EOACHPAF_00040 |
33212 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2001T>G |
Arg667Arg |
M0114625 |
EOACHPAF_00040 |
33242 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2031G>A |
Arg677Arg |
M0114626 |
EOACHPAF_00040 |
33245 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2034T>C |
Ala678Ala |
M0114627 |
EOACHPAF_00040 |
33263 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2052T>C |
Ala684Ala |
M0114628 |
EOACHPAF_00040 |
33287 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2076T>C |
Phe692Phe |
M0114629 |
EOACHPAF_00040 |
33317 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2106C>T |
Ile702Ile |
M0114630 |
EOACHPAF_00040 |
33329 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2118C>T |
Phe706Phe |
M0114631 |
EOACHPAF_00040 |
33332 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2121C>T |
His707His |
M0114632 |
EOACHPAF_00040 |
33335 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2124T>C |
His708His |
M0114633 |
EOACHPAF_00040 |
33353 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2142G>A |
Glu714Glu |
M0114634 |
EOACHPAF_00040 |
33368 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2157C>T |
Ile719Ile |
M0114635 |
EOACHPAF_00040 |
33383 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2172T>C |
Arg724Arg |
M0114636 |
EOACHPAF_00040 |
33386 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2175G>A |
Glu725Glu |
M0114637 |
EOACHPAF_00040 |
33401 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2190C>T |
Asn730Asn |
M0114638 |
EOACHPAF_00040 |
33410 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2199C>T |
Leu733Leu |
M0114639 |
EOACHPAF_00040 |
33413 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2202T>C |
Ile734Ile |
M0114640 |
EOACHPAF_00040 |
33416 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2205T>C |
Thr735Thr |
M0114641 |
EOACHPAF_00040 |
33461 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2250T>C |
Arg750Arg |
M0114642 |
EOACHPAF_00041 |
34001 |
11 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
274G>A |
Val92Ile |
M0114643 |
EOACHPAF_00041 |
34051 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
324G>C |
Val108Val |
M0114644 |
EOACHPAF_00041 |
34066 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
339C>A |
Gly113Gly |
M0114645 |
EOACHPAF_00007 |
3536 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
81T>C |
Phe27Phe |
M0114646 |
EOACHPAF_00045 |
39481 |
12 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1704G>C |
Ala568Ala |
M0114647 |
EOACHPAF_00045 |
39604 |
11 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1827C>G |
Asp609Glu |
M0114648 |
EOACHPAF_00046 |
40303 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
524T>C |
Val175Ala |
M0114649 |
EOACHPAF_00046 |
40376 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
597A>C |
Leu199Leu |
M0114650 |
EOACHPAF_00046 |
40385 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
606G>C |
Arg202Arg |
M0114651 |
EOACHPAF_00046 |
40387 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
608T>G |
Phe203Cys |
M0114652 |
EOACHPAF_00047 |
40483 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-188A>G |
None |
M0114653 |
EOACHPAF_00047 |
40490 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-181T>G |
None |
M0114654 |
EOACHPAF_00047 |
40492 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-179A>G |
None |
M0114655 |
EOACHPAF_00047 |
40764 |
8 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
94G>A |
Ala32Thr |
M0114656 |
EOACHPAF_00047 |
40877 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
207T>C |
Ala69Ala |
M0114657 |
EOACHPAF_00017 |
13245 |
9 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1386T>C |
Pro462Pro |
M0114658 |
EOACHPAF_00017 |
14319 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
312C>T |
Leu104Leu |
M0114659 |
EOACHPAF_00018 |
14669 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
360A>G |
Gly120Gly |
M0114660 |
EOACHPAF_00019 |
15099 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
345A>G |
Gly115Gly |
M0114661 |
EOACHPAF_00020 |
15631 |
7 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
187A>G |
Thr63Ala |
M0114662 |
EOACHPAF_00022 |
16133 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
879A>C |
Leu293Leu |
M0114663 |
EOACHPAF_00017 |
12969 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1662G>C |
Leu554Leu |
M0114664 |
EOACHPAF_00017 |
12984 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1647G>A |
Glu549Glu |
M0114665 |
EOACHPAF_00017 |
13053 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1578T>C |
Asp526Asp |
M0114666 |
EOACHPAF_00017 |
13077 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1554A>C |
Ala518Ala |
M0114667 |
EOACHPAF_00017 |
13917 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
714C>T |
Gly238Gly |
M0114668 |
EOACHPAF_00017 |
13946 |
7 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
685A>G |
Lys229Glu |
M0114669 |
EOACHPAF_00017 |
13974 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
657C>T |
His219His |
M0114670 |
EOACHPAF_00017 |
13977 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
654C>T |
Ile218Ile |
M0114671 |
EOACHPAF_00017 |
13979 |
8 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
652A>G |
Ile218Val |
M0114672 |
EOACHPAF_00017 |
13980 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
651G>A |
Ala217Ala |
M0114673 |
EOACHPAF_00017 |
13994 |
7 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
637A>G |
Lys213Glu |
M0114674 |
EOACHPAF_00017 |
13995 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
636T>C |
Pro212Pro |
M0114675 |
EOACHPAF_00017 |
14004 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
627G>A |
Leu209Leu |
M0114676 |
EOACHPAF_00017 |
14007 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
624C>G |
Ile208Met |
M0114677 |
EOACHPAF_00017 |
14009 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
622A>G |
Ile208Val |
M0114678 |
EOACHPAF_00017 |
14472 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
159G>T |
Ser53Ser |
M0114679 |
EOACHPAF_00019 |
15228 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
216A>G |
Ala72Ala |
M0114680 |
EOACHPAF_00019 |
15246 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
198A>G |
Ala66Ala |
M0114681 |
EOACHPAF_00019 |
15423 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
21C>T |
Gly7Gly |
M0114682 |
EOACHPAF_00018 |
14843 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
186A>T |
Leu62Leu |
M0114683 |
EOACHPAF_00019 |
15123 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
321A>G |
Thr107Thr |
M0114684 |
EOACHPAF_00020 |
15545 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
273T>G |
Gly91Gly |
M0114685 |
EOACHPAF_00020 |
15554 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
264G>T |
Arg88Arg |
M0114686 |
EOACHPAF_00020 |
15556 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
262C>A |
Arg88Arg |
M0114687 |
EOACHPAF_00020 |
15557 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
261G>C |
Val87Val |
M0114688 |
EOACHPAF_00020 |
15562 |
6 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
256A>T |
Thr86Ser |
M0114689 |
EOACHPAF_00020 |
15563 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
255G>A |
Val85Val |
M0114690 |
EOACHPAF_00020 |
15565 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
253G>A |
Val85Met |
M0114691 |
EOACHPAF_00020 |
15566 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
252A>G |
Arg84Arg |
M0114692 |
EOACHPAF_00020 |
15571 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
247G>A |
Ala83Thr |
M0114693 |
EOACHPAF_00020 |
15587 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
231C>T |
His77His |
M0114694 |
EOACHPAF_00020 |
15593 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
225C>T |
Thr75Thr |
M0114695 |
EOACHPAF_00020 |
15629 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
189T>C |
Thr63Thr |
M0114696 |
EOACHPAF_00020 |
15630 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
188C>T |
Thr63Ile |
M0114697 |
EOACHPAF_00020 |
15632 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
186A>G |
Pro62Pro |
M0114698 |
EOACHPAF_00021 |
15958 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
60C>T |
Arg20Arg |
M0114699 |
EOACHPAF_00022 |
16156 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
856T>C |
Leu286Leu |
M0114700 |
EOACHPAF_00022 |
16175 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
837A>C |
Gly279Gly |
M0114701 |
EOACHPAF_00022 |
16352 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
660G>A |
Lys220Lys |
M0114702 |
EOACHPAF_00022 |
16355 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
657T>C |
Ile219Ile |
M0114703 |
EOACHPAF_00022 |
16442 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
570G>A |
Leu190Leu |
M0114704 |
EOACHPAF_00022 |
16445 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
567A>G |
Pro189Pro |
M0114705 |
EOACHPAF_00022 |
16448 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
564C>G |
Ala188Ala |
M0114706 |
EOACHPAF_00022 |
16450 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
562G>T |
Ala188Ser |
M0114707 |
EOACHPAF_00022 |
16451 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
561T>C |
Asp187Asp |
M0114708 |
EOACHPAF_00022 |
16454 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
558A>G |
Ser186Ser |
M0114709 |
EOACHPAF_00022 |
16529 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
483T>C |
Phe161Phe |
M0114710 |
EOACHPAF_00022 |
16532 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
480G>A |
Val160Val |
M0114711 |
EOACHPAF_00022 |
16619 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
393G>A |
Leu131Leu |
M0114712 |
EOACHPAF_00022 |
16621 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
391C>T |
Leu131Leu |
M0114713 |
EOACHPAF_00022 |
16890 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
122T>C |
Leu41Ser |
M0114714 |
EOACHPAF_00022 |
16931 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
81T>A |
Pro27Pro |
M0114715 |
EOACHPAF_00022 |
16934 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
78G>C |
Arg26Arg |
M0114716 |
EOACHPAF_00022 |
16985 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
27A>G |
Leu9Leu |
M0114717 |
EOACHPAF_00022 |
17003 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
9G>T |
Thr3Thr |
M0114718 |
EOACHPAF_00022 |
17004 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
8C>T |
Thr3Met |
M0114719 |
EOACHPAF_00022 |
17006 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
6G>C |
Thr2Thr |
M0114720 |
EOACHPAF_00023 |
17023 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
852T>C |
Val284Val |
M0114721 |
EOACHPAF_00023 |
17035 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
840G>C |
Thr280Thr |
M0114722 |
EOACHPAF_00023 |
17041 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
834C>A |
His278Gln |
M0114723 |
EOACHPAF_00023 |
17042 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
833A>G |
His278Arg |
M0114724 |
EOACHPAF_00023 |
17044 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
831G>T |
Arg277Arg |
M0114725 |
EOACHPAF_00023 |
17047 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
828G>C |
Pro276Pro |
M0114726 |
EOACHPAF_00023 |
17050 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
825C>G |
Arg275Arg |
M0114727 |
EOACHPAF_00023 |
17095 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
780A>G |
Ile260Met |
M0114728 |
EOACHPAF_00023 |
17097 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
778A>G |
Ile260Val |
M0114729 |
EOACHPAF_00023 |
17151 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
724G>T |
Ala242Ser |
M0114730 |
EOACHPAF_00023 |
17171 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
704C>G |
Ala235Gly |
M0114731 |
EOACHPAF_00023 |
17191 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
684T>C |
Val228Val |
M0114732 |
EOACHPAF_00023 |
17197 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
678G>A |
Thr226Thr |
M0114733 |
EOACHPAF_00023 |
17206 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
669T>C |
Arg223Arg |
M0114734 |
EOACHPAF_00023 |
17233 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
642A>G |
Glu214Glu |
M0114735 |
EOACHPAF_00023 |
17281 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
594C>T |
Ala198Ala |
M0114736 |
EOACHPAF_00024 |
18324 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1047C>G |
Leu349Leu |
M0114737 |
EOACHPAF_00025 |
19511 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
675T>C |
His225His |
M0114738 |
EOACHPAF_00025 |
19591 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
595G>C |
Glu199Gln |
M0114739 |
EOACHPAF_00025 |
19627 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
559C>T |
His187Tyr |
M0114740 |
EOACHPAF_00026 |
20453 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
322T>C |
Leu108Leu |
M0114741 |
EOACHPAF_00027 |
20926 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
525G>A |
Gly175Gly |
M0114742 |
EOACHPAF_00037 |
29211 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
10G>A |
Gly4Arg |
M0114743 |
EOACHPAF_00037 |
29218 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
17T>C |
Val6Ala |
M0114744 |
EOACHPAF_00037 |
29220 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
19C>T |
Arg7Cys |
M0114745 |
EOACHPAF_00037 |
29222 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
21T>C |
Arg7Arg |
M0114746 |
EOACHPAF_00037 |
29224 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
23A>C |
Asn8Thr |
M0114747 |
EOACHPAF_00037 |
29226 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
25T>C |
Ser9Pro |
M0114748 |
EOACHPAF_00037 |
29232 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
31A>G |
Ser11Gly |
M0114749 |
EOACHPAF_00037 |
29244 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
43G>A |
Glu15Lys |
M0114750 |
EOACHPAF_00037 |
29246 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
45G>C |
Glu15Asp |
M0114751 |
EOACHPAF_00037 |
29249 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
48C>T |
Pro16Pro |
M0114752 |
EOACHPAF_00037 |
29253 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
52C>T |
Pro18Ser |
M0114753 |
EOACHPAF_00037 |
29386 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
185C>T |
Ala62Val |
M0114754 |
EOACHPAF_00037 |
29663 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
462A>C |
Thr154Thr |
M0114755 |
EOACHPAF_00037 |
29667 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
466A>G |
Ile156Val |
M0114756 |
EOACHPAF_00037 |
29692 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
491C>G |
Thr164Ser |
M0114757 |
EOACHPAF_00037 |
29841 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
640A>G |
Thr214Ala |
M0114758 |
EOACHPAF_00040 |
32048 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
837C>T |
Phe279Phe |
M0114759 |
EOACHPAF_00040 |
32049 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
838C>T |
Leu280Leu |
M0114760 |
EOACHPAF_00040 |
32144 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
933C>T |
Ala311Ala |
M0114761 |
EOACHPAF_00040 |
32150 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
939C>T |
Arg313Arg |
M0114762 |
EOACHPAF_00040 |
32156 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
945C>G |
Thr315Thr |
M0114763 |
EOACHPAF_00040 |
32162 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
951C>T |
Asp317Asp |
M0114764 |
EOACHPAF_00040 |
33723 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
2512G>A |
Ala838Thr |
M0114765 |
EOACHPAF_00041 |
33742 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
15G>A |
Pro5Pro |
M0114766 |
EOACHPAF_00041 |
33743 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
16T>C |
Tyr6His |
M0114767 |
EOACHPAF_00041 |
33744 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
17A>G |
Tyr6Cys |
M0114768 |
EOACHPAF_00041 |
33745 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
18T>C |
Tyr6Tyr |
M0114769 |
EOACHPAF_00041 |
33754 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
27A>G |
Gly9Gly |
M0114770 |
EOACHPAF_00041 |
33755 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
28A>G |
Thr10Ala |
M0114771 |
EOACHPAF_00041 |
33767 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
40T>C |
Trp14Arg |
M0114772 |
EOACHPAF_00041 |
33809 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
82T>C |
Leu28Leu |
M0114773 |
EOACHPAF_00041 |
33812 |
8 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
85G>A |
Gly29Ser |
M0114774 |
EOACHPAF_00041 |
33826 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
99T>C |
Ala33Ala |
M0114775 |
EOACHPAF_00041 |
33838 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
111T>C |
Gly37Gly |
M0114776 |
EOACHPAF_00041 |
33841 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
114T>G |
Pro38Pro |
M0114777 |
EOACHPAF_00041 |
33862 |
9 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
135T>C |
Asp45Asp |
M0114778 |
EOACHPAF_00041 |
33917 |
9 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
190T>A |
Leu64Met |
M0114779 |
EOACHPAF_00041 |
33950 |
6 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
223A>G |
Ser75Gly |
M0114780 |
EOACHPAF_00041 |
33951 |
6 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
224G>C |
Ser75Thr |
M0114781 |
EOACHPAF_00041 |
33973 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
246T>C |
Gly82Gly |
M0114782 |
EOACHPAF_00041 |
34090 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
363T>C |
Asp121Asp |
M0114783 |
EOACHPAF_00041 |
34288 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
561T>G |
Asn187Lys |
M0114784 |
EOACHPAF_00041 |
34291 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
564T>C |
Phe188Phe |
M0114785 |
EOACHPAF_00041 |
34297 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
570T>C |
Gly190Gly |
M0114786 |
EOACHPAF_00041 |
34369 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
642T>C |
Thr214Thr |
M0114787 |
EOACHPAF_00041 |
34386 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
659G>C |
Gly220Ala |
M0114788 |
EOACHPAF_00041 |
34408 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
681T>C |
Val227Val |
M0114789 |
EOACHPAF_00041 |
34412 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
685G>A |
Val229Ile |
M0114790 |
EOACHPAF_00041 |
34449 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
722C>A |
Ala241Asp |
M0114791 |
EOACHPAF_00041 |
34462 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
735T>G |
Ser245Ser |
M0114792 |
EOACHPAF_00041 |
35482 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1755T>C |
Ser585Ser |
M0114793 |
EOACHPAF_00042 |
35895 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
27A>C |
Pro9Pro |
M0114794 |
EOACHPAF_00042 |
36120 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
252C>T |
Ile84Ile |
M0114795 |
EOACHPAF_00042 |
36720 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
852T>G |
Ala284Ala |
M0114796 |
EOACHPAF_00045 |
39250 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1473A>C |
Arg491Arg |
M0114797 |
EOACHPAF_00045 |
39581 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1804C>G |
Pro602Ala |
M0114798 |
EOACHPAF_00001 |
96 |
18 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-328G>T |
None |
M0114799 |
EOACHPAF_00001 |
106 |
20 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-318T>C |
None |
M0114800 |
EOACHPAF_00001 |
308 |
14 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-116G>C |
None |
M0114801 |
EOACHPAF_00001 |
561 |
13 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
138T>A |
Pro46Pro |
M0114802 |
EOACHPAF_00001 |
564 |
13 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
141C>T |
Gly47Gly |
M0114803 |
EOACHPAF_00009 |
4906 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1038G>A |
Pro346Pro |
M0114804 |
EOACHPAF_00004 |
7042 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4916T>C |
None |
M0114805 |
EOACHPAF_00012 |
8113 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
132C>T |
Asp44Asp |
M0114806 |
EOACHPAF_00041 |
34210 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
483A>T |
Ala161Ala |
M0114807 |
EOACHPAF_00041 |
34322 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
595C>T |
Leu199Leu |
M0114808 |
EOACHPAF_00041 |
34333 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
606C>T |
Thr202Thr |
M0114809 |
EOACHPAF_00041 |
34529 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
802T>G |
Ser268Ala |
M0114810 |
EOACHPAF_00041 |
34769 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1042G>T |
Ala348Ser |
M0114811 |
EOACHPAF_00041 |
34993 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1266C>A |
Phe422Leu |
M0114812 |
EOACHPAF_00041 |
35251 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1524C>T |
Ala508Ala |
M0114813 |
EOACHPAF_00009 |
4598 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1346A>G |
Asn449Ser |
M0114814 |
EOACHPAF_00009 |
5249 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
695A>G |
Asp232Gly |
M0114815 |
EOACHPAF_00009 |
5335 |
10 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
609C>G |
Val203Val |
M0114816 |
EOACHPAF_00003 |
5960 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4183C>T |
None |
M0114817 |
EOACHPAF_00003 |
5963 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4186A>G |
None |
M0114818 |
EOACHPAF_00003 |
5995 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4218G>A |
None |
M0114819 |
EOACHPAF_00003 |
5996 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4219T>C |
None |
M0114820 |
EOACHPAF_00003 |
6000 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4223A>T |
None |
M0114821 |
EOACHPAF_00003 |
6001 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4224G>T |
None |
M0114822 |
EOACHPAF_00003 |
6002 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4225C>G |
None |
M0114823 |
EOACHPAF_00003 |
6123 |
8 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4346T>C |
None |
M0114824 |
EOACHPAF_00003 |
6130 |
8 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4353C>A |
None |
M0114825 |
EOACHPAF_00010 |
6347 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
264T>G |
Thr88Thr |
M0114826 |
EOACHPAF_00010 |
6349 |
9 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
262A>T |
Thr88Ser |
M0114827 |
EOACHPAF_00010 |
6350 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
261C>G |
Leu87Leu |
M0114828 |
EOACHPAF_00010 |
6352 |
8 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
259C>A |
Leu87Ile |
M0114829 |
EOACHPAF_00056 |
46868 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
567A>C |
Arg189Arg |
M0114830 |
EOACHPAF_00057 |
47174 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
6G>A |
Thr2Thr |
M0114831 |
EOACHPAF_00057 |
47472 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
304T>C |
Trp102Arg |
M0114832 |
EOACHPAF_00056 |
47018 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
717G>A |
Leu239Leu |
M0114833 |
EOACHPAF_00056 |
47033 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
732G>T |
Gly244Gly |
M0114834 |
EOACHPAF_00003 |
6614 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4837C>G |
None |
M0114835 |
EOACHPAF_00002 |
1252 |
6 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1G>T |
Val1Leu |
M0114836 |
EOACHPAF_00009 |
5683 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
261G>A |
Arg87Arg |
M0114837 |
EOACHPAF_00009 |
5686 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
258G>A |
Lys86Lys |
M0114838 |
EOACHPAF_00055 |
45479 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
871T>C |
Leu291Leu |
M0114839 |
EOACHPAF_00055 |
45484 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
876T>G |
Phe292Leu |
M0114840 |
EOACHPAF_00055 |
45634 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1026G>A |
Arg342Arg |
M0114841 |
EOACHPAF_00055 |
46252 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1644A>T |
Ala548Ala |
M0114842 |
EOACHPAF_00009 |
5833 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
111T>C |
Leu37Leu |
M0114843 |
EOACHPAF_00008 |
3891 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
482A>C |
Asp161Ala |
M0114844 |
EOACHPAF_00008 |
3892 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
481G>A |
Asp161Asn |
M0114845 |
EOACHPAF_00008 |
3904 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
469G>A |
Val157Met |
M0114846 |
EOACHPAF_00008 |
3926 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
447G>A |
Arg149Arg |
M0114847 |
EOACHPAF_00008 |
3958 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
415C>A |
Leu139Ile |
M0114848 |
EOACHPAF_00008 |
3982 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
391G>A |
Asp131Asn |
M0114849 |
EOACHPAF_00008 |
4025 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
348T>C |
His116His |
M0114850 |
EOACHPAF_00008 |
4062 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
311T>A |
Leu104His |
M0114851 |
EOACHPAF_00008 |
4210 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
163T>C |
Ser55Pro |
M0114852 |
EOACHPAF_00008 |
4256 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
117T>C |
His39His |
M0114853 |
EOACHPAF_00008 |
4284 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
89A>C |
Asp30Ala |
M0114854 |
EOACHPAF_00003 |
6009 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4232C>A |
None |
M0114855 |
EOACHPAF_00003 |
6010 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4233T>A |
None |
M0114856 |
EOACHPAF_00003 |
6011 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4234T>A |
None |
M0114857 |
EOACHPAF_00046 |
40382 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
603C>T |
Asp201Asp |
M0114858 |
EOACHPAF_00009 |
5812 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
132T>G |
Gly44Gly |
M0114859 |
EOACHPAF_00001 |
984 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
561C>T |
Cys187Cys |
M0114860 |
EOACHPAF_00001 |
987 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
564C>T |
Ser188Ser |
M0114861 |
EOACHPAF_00001 |
990 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
567T>C |
Ile189Ile |
M0114862 |
EOACHPAF_00012 |
7938 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
307G>A |
Ala103Thr |
M0114863 |
EOACHPAF_00052 |
43335 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
342T>G |
Thr114Thr |
M0114864 |
EOACHPAF_00049 |
44087 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2381G>A |
None |
M0114865 |
EOACHPAF_00049 |
44088 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2382A>C |
None |
M0114866 |
EOACHPAF_00007 |
3609 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
154T>C |
Cys52Arg |
M0114867 |
EOACHPAF_00024 |
18528 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
843G>T |
Gly281Gly |
M0114868 |
EOACHPAF_00047 |
40677 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
7G>C |
Ala3Pro |
M0114869 |
EOACHPAF_00048 |
41165 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
181C>T |
Pro61Ser |
M0114870 |
EOACHPAF_00051 |
42511 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
312C>T |
Tyr104Tyr |
M0114871 |
EOACHPAF_00052 |
43048 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
55G>A |
Ala19Thr |
M0114872 |
EOACHPAF_00052 |
43269 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
276G>A |
Ser92Ser |
M0114873 |
EOACHPAF_00056 |
46467 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
166C>T |
Leu56Leu |
M0114874 |
EOACHPAF_00056 |
46506 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
205C>T |
Arg69Cys |
M0114875 |
EOACHPAF_00056 |
46709 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
408C>G |
Asp136Glu |
M0114876 |
EOACHPAF_00056 |
46718 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
417C>T |
Asp139Asp |
M0114877 |
EOACHPAF_00056 |
46729 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
428A>G |
His143Arg |
M0114878 |
EOACHPAF_00056 |
46748 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
447C>T |
Arg149Arg |
M0114879 |
EOACHPAF_00056 |
46751 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
450T>C |
His150His |
M0114880 |
EOACHPAF_00056 |
46774 |
7 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
473A>G |
His158Arg |
M0114881 |
EOACHPAF_00058 |
47790 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
214G>T |
Ala72Ser |
M0114882 |
EOACHPAF_00032 |
24780 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
673T>C |
Ser225Pro |
M0114883 |
EOACHPAF_00034 |
26248 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
362T>C |
Ile121Thr |
M0114884 |
EOACHPAF_00054 |
44384 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
294C>T |
Ala98Ala |
M0114885 |
EOACHPAF_00054 |
44387 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
297C>T |
Asp99Asp |
M0114886 |
EOACHPAF_00055 |
45118 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
510C>T |
Gly170Gly |
M0114887 |
EOACHPAF_00055 |
45236 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
628A>G |
Thr210Ala |
M0114888 |
EOACHPAF_00055 |
45253 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
645C>T |
Asp215Asp |
M0114889 |
EOACHPAF_00055 |
45265 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
657C>T |
Gly219Gly |
M0114890 |
EOACHPAF_00055 |
45325 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
717C>T |
Phe239Phe |
M0114891 |
EOACHPAF_00055 |
45369 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
761C>T |
Ala254Val |
M0114892 |
EOACHPAF_00055 |
45379 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
771C>T |
Leu257Leu |
M0114893 |
EOACHPAF_00055 |
45407 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
799A>G |
Thr267Ala |
M0114894 |
EOACHPAF_00055 |
45541 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
933C>G |
Ala311Ala |
M0114895 |
EOACHPAF_00055 |
45550 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
942G>T |
Glu314Asp |
M0114896 |
EOACHPAF_00055 |
45688 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1080A>G |
Gly360Gly |
M0114897 |
EOACHPAF_00055 |
45778 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1170T>G |
Ala390Ala |
M0114898 |
EOACHPAF_00055 |
46132 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1524G>T |
Val508Val |
M0114899 |
EOACHPAF_00054 |
44318 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
228A>C |
Gly76Gly |
M0114900 |
EOACHPAF_00010 |
6309 |
9 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
302C>A |
Thr101Asn |
M0114901 |
EOACHPAF_00012 |
7669 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
576T>C |
Asp192Asp |
M0114902 |
EOACHPAF_00046 |
40153 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
374C>T |
Ala125Val |
M0114903 |
EOACHPAF_00046 |
40175 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
396G>T |
Gln132His |
M0114904 |
EOACHPAF_00046 |
40184 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
405A>G |
Ala135Ala |
M0114905 |
EOACHPAF_00046 |
40186 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
407C>T |
Thr136Ile |
M0114906 |
EOACHPAF_00046 |
40206 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
427A>G |
Thr143Ala |
M0114907 |
EOACHPAF_00041 |
33797 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
70C>T |
Leu24Leu |
M0114908 |
EOACHPAF_00039 |
30603 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
33A>G |
Gln11Gln |
M0114909 |
EOACHPAF_00028 |
21700 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
673G>A |
Ala225Thr |
M0114910 |
EOACHPAF_00023 |
22500 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4626C>T |
None |
M0114911 |
EOACHPAF_00029 |
23059 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
237T>C |
Arg79Arg |
M0114912 |
EOACHPAF_00024 |
23744 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4374T>C |
None |
M0114913 |
EOACHPAF_00009 |
5032 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
912A>C |
Lys304Asn |
M0114914 |
EOACHPAF_00009 |
5036 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
908A>C |
Lys303Thr |
M0114915 |
EOACHPAF_00009 |
5386 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
558T>C |
Ser186Ser |
M0114916 |
EOACHPAF_00009 |
5419 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
525T>C |
Ala175Ala |
M0114917 |
EOACHPAF_00009 |
5430 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
514T>A |
Ser172Thr |
M0114918 |
EOACHPAF_00003 |
6092 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4315G>T |
None |
M0114919 |
EOACHPAF_00003 |
6096 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4319G>A |
None |
M0114920 |
EOACHPAF_00017 |
13259 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1372G>A |
Ala458Thr |
M0114921 |
EOACHPAF_00017 |
13261 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1370C>T |
Ala457Val |
M0114922 |
EOACHPAF_00017 |
13266 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1365C>G |
Ser455Ser |
M0114923 |
EOACHPAF_00017 |
13271 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1360C>T |
Leu454Leu |
M0114924 |
EOACHPAF_00017 |
13293 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1338T>C |
Asp446Asp |
M0114925 |
EOACHPAF_00017 |
14589 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
42G>T |
Leu14Leu |
M0114926 |
EOACHPAF_00019 |
15303 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
141T>G |
Gly47Gly |
M0114927 |
EOACHPAF_00020 |
15544 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
274G>T |
Ala92Ser |
M0114928 |
EOACHPAF_00020 |
15548 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
270C>T |
Asp90Asp |
M0114929 |
EOACHPAF_00020 |
15569 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
249C>G |
Ala83Ala |
M0114930 |
EOACHPAF_00012 |
7845 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
400G>T |
Ala134Ser |
M0114931 |
EOACHPAF_00055 |
44845 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
237G>T |
Ser79Ser |
M0114932 |
EOACHPAF_00055 |
44851 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
243A>G |
Leu81Leu |
M0114933 |
EOACHPAF_00055 |
45190 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
582C>T |
Leu194Leu |
M0114934 |
EOACHPAF_00055 |
45361 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
753C>T |
Ala251Ala |
M0114935 |
EOACHPAF_00045 |
39523 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1746C>T |
Pro582Pro |
M0114936 |
EOACHPAF_00046 |
39776 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4G>C |
None |
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 |
EOACHPAF_00017 |
ALT45770.1|CBM50 |
96.1 |
0 |
1 |
1036 |
1 |
1 |
EOACHPAF_00042 |
AGJ81083.1|GH184 |
98.8 |
2.04e-236 |
1 |
341 |
1 |
0.9715 |
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 |