Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C560 |
Reference Plasmid |
NZ_CP031163.1 |
Reference Plasmid Size |
668667 |
Reference Plasmid GC Content |
0.62 |
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 |
M0094429 |
IENPCBEF_00467 |
443731 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
828C>T |
Thr276Thr |
M0094430 |
IENPCBEF_00467 |
443780 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
877T>C |
Leu293Leu |
M0094431 |
IENPCBEF_00467 |
443798 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
895C>T |
Leu299Leu |
M0094432 |
IENPCBEF_00467 |
443818 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
915C>G |
Leu305Leu |
M0094433 |
IENPCBEF_00467 |
443921 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1018C>G |
Gln340Glu |
M0094434 |
IENPCBEF_00700 |
633569 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
377T>C |
Ile126Thr |
M0094435 |
IENPCBEF_00700 |
633625 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
321T>C |
Ser107Ser |
M0094436 |
IENPCBEF_00700 |
633690 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
256G>A |
Gly86Ser |
M0094437 |
IENPCBEF_00700 |
633700 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
246C>T |
Asn82Asn |
M0094438 |
IENPCBEF_00700 |
633766 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
180T>C |
Gly60Gly |
M0094439 |
IENPCBEF_00700 |
633772 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
174C>A |
Asp58Glu |
M0094440 |
IENPCBEF_00700 |
633784 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
162G>A |
Lys54Lys |
M0094441 |
IENPCBEF_00700 |
633830 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
116T>C |
Val39Ala |
M0094442 |
IENPCBEF_00700 |
633832 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
114A>G |
Gln38Gln |
M0094443 |
IENPCBEF_00700 |
633860 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
86C>T |
Pro29Leu |
M0094444 |
IENPCBEF_00700 |
633863 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
83T>A |
Val28Asp |
M0094445 |
IENPCBEF_00693 |
633946 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4161T>C |
None |
M0094446 |
IENPCBEF_00693 |
633963 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4178A>G |
None |
M0094447 |
IENPCBEF_00693 |
633968 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4183C>G |
None |
M0094448 |
IENPCBEF_00693 |
633971 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4186C>T |
None |
M0094449 |
IENPCBEF_00693 |
633982 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4197A>C |
None |
M0094450 |
IENPCBEF_00693 |
633983 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4198C>T |
None |
M0094451 |
IENPCBEF_00693 |
633994 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4209G>A |
None |
M0094452 |
IENPCBEF_00693 |
634032 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4247G>A |
None |
M0094453 |
IENPCBEF_00701 |
634147 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
75G>A |
Glu25Glu |
M0094454 |
IENPCBEF_00701 |
634285 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
213G>C |
Ala71Ala |
M0094455 |
IENPCBEF_00701 |
634289 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
217G>A |
Gly73Arg |
M0094456 |
IENPCBEF_00478 |
457249 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
552C>T |
Ile184Ile |
M0094457 |
IENPCBEF_00478 |
457252 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
549G>C |
Arg183Arg |
M0094458 |
IENPCBEF_00480 |
458247 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
438A>G |
Thr146Thr |
M0094459 |
IENPCBEF_00480 |
458383 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
302T>C |
Val101Ala |
M0094460 |
IENPCBEF_00511 |
480102 |
11 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
133C>T |
Leu45Phe |
M0094461 |
IENPCBEF_00512 |
480538 |
22 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
612C>G |
Val204Val |
M0094462 |
IENPCBEF_00512 |
480595 |
22 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
555C>G |
Gly185Gly |
M0094463 |
IENPCBEF_00512 |
480598 |
22 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
552G>C |
Leu184Leu |
M0094464 |
IENPCBEF_00512 |
480601 |
22 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
549G>A |
Val183Val |
M0094465 |
IENPCBEF_00509 |
478861 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
354C>T |
His118His |
M0094466 |
IENPCBEF_00512 |
480798 |
18 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
352G>A |
Ala118Thr |
M0094467 |
IENPCBEF_00512 |
480817 |
19 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
333C>A |
Ala111Ala |
M0094468 |
IENPCBEF_00512 |
480823 |
18 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
327T>G |
Leu109Leu |
M0094469 |
IENPCBEF_00512 |
480841 |
18 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
309C>T |
Val103Val |
M0094470 |
IENPCBEF_00512 |
480847 |
18 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
303T>C |
Ile101Ile |
M0094471 |
IENPCBEF_00512 |
480886 |
20 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
264G>A |
Thr88Thr |
M0094472 |
IENPCBEF_00512 |
480937 |
20 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
213T>G |
Ala71Ala |
M0094473 |
IENPCBEF_00512 |
480942 |
20 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
208A>G |
Thr70Ala |
M0094474 |
IENPCBEF_00512 |
480961 |
20 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
189G>C |
Ala63Ala |
M0094475 |
IENPCBEF_00512 |
481015 |
21 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
135A>G |
Ser45Ser |
M0094476 |
IENPCBEF_00512 |
481030 |
21 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
120C>T |
Ser40Ser |
M0094477 |
IENPCBEF_00512 |
481036 |
21 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
114C>G |
Ser38Ser |
M0094478 |
IENPCBEF_00512 |
481054 |
21 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
96C>T |
Val32Val |
M0094479 |
IENPCBEF_00512 |
481066 |
21 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
84G>C |
Leu28Leu |
M0094480 |
IENPCBEF_00512 |
481102 |
21 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
48G>A |
Gln16Gln |
M0094481 |
IENPCBEF_00513 |
481463 |
21 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
282A>G |
Glu94Glu |
M0094482 |
IENPCBEF_00513 |
481469 |
21 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
276T>G |
Gly92Gly |
M0094483 |
IENPCBEF_00513 |
481472 |
21 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
273T>C |
Ala91Ala |
M0094484 |
IENPCBEF_00513 |
481481 |
21 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
264G>T |
Arg88Arg |
M0094485 |
IENPCBEF_00513 |
481498 |
21 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
247T>C |
Leu83Leu |
M0094486 |
IENPCBEF_00513 |
481517 |
21 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
228T>C |
Ile76Ile |
M0094487 |
IENPCBEF_00513 |
481585 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
160A>G |
Arg54Gly |
M0094488 |
IENPCBEF_00513 |
481593 |
21 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
152G>C |
Ser51Thr |
M0094489 |
IENPCBEF_00513 |
481605 |
21 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
140C>A |
Thr47Asn |
M0094490 |
IENPCBEF_00513 |
481625 |
21 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
120C>T |
Ala40Ala |
M0094491 |
IENPCBEF_00513 |
481628 |
21 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
117G>C |
Ala39Ala |
M0094492 |
IENPCBEF_00513 |
481648 |
21 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
97G>A |
Ala33Thr |
M0094493 |
IENPCBEF_00513 |
481686 |
20 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
59C>T |
Ala20Val |
M0094494 |
IENPCBEF_00513 |
481742 |
18 |
Skin |
0.09 |
protein_coding |
start_lost |
HIGH |
3G>T |
Met1? |
M0094495 |
IENPCBEF_00514 |
481774 |
21 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
471G>A |
Ser157Ser |
M0094496 |
IENPCBEF_00514 |
481789 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
456A>C |
Pro152Pro |
M0094497 |
IENPCBEF_00514 |
481846 |
19 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
399C>T |
Ala133Ala |
M0094498 |
IENPCBEF_00514 |
481855 |
19 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
390A>G |
Val130Val |
M0094499 |
IENPCBEF_00514 |
481863 |
19 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
382C>T |
Leu128Leu |
M0094500 |
IENPCBEF_00514 |
481864 |
19 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
381A>G |
Gln127Gln |
M0094501 |
IENPCBEF_00514 |
481879 |
19 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
366T>C |
Ser122Ser |
M0094502 |
IENPCBEF_00514 |
481885 |
19 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
360C>G |
Val120Val |
M0094503 |
IENPCBEF_00514 |
481894 |
19 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
351C>G |
Ala117Ala |
M0094504 |
IENPCBEF_00514 |
481944 |
20 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
301C>T |
Leu101Leu |
M0094505 |
IENPCBEF_00514 |
481989 |
20 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
256C>A |
Arg86Arg |
M0094506 |
IENPCBEF_00514 |
482041 |
19 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
204T>C |
Tyr68Tyr |
M0094507 |
IENPCBEF_00514 |
482071 |
19 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
174G>A |
Gln58Gln |
M0094508 |
IENPCBEF_00514 |
482131 |
21 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
114A>C |
Pro38Pro |
M0094509 |
IENPCBEF_00506 |
482265 |
20 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4722A>C |
None |
M0094510 |
IENPCBEF_00506 |
482288 |
21 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4745T>C |
None |
M0094511 |
IENPCBEF_00506 |
482292 |
21 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4749C>T |
None |
M0094512 |
IENPCBEF_00515 |
482296 |
21 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
504T>C |
Ser168Ser |
M0094513 |
IENPCBEF_00515 |
482325 |
20 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
475G>T |
Ala159Ser |
M0094514 |
IENPCBEF_00515 |
482332 |
20 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
468C>T |
Asp156Asp |
M0094515 |
IENPCBEF_00515 |
482347 |
20 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
453T>C |
Leu151Leu |
M0094516 |
IENPCBEF_00515 |
482410 |
20 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
390C>A |
Pro130Pro |
M0094517 |
IENPCBEF_00515 |
482429 |
20 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
371A>G |
Lys124Arg |
M0094518 |
IENPCBEF_00515 |
482497 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
303C>A |
Gly101Gly |
M0094519 |
IENPCBEF_00515 |
482518 |
20 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
282T>G |
Ala94Ala |
M0094520 |
IENPCBEF_00515 |
482575 |
15 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
225T>C |
Gly75Gly |
M0094521 |
IENPCBEF_00515 |
482590 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
210C>T |
Gly70Gly |
M0094522 |
IENPCBEF_00515 |
482593 |
16 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
207T>C |
Val69Val |
M0094523 |
IENPCBEF_00515 |
482610 |
15 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
190G>A |
Val64Met |
M0094524 |
IENPCBEF_00515 |
482694 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
106C>T |
Leu36Phe |
M0094525 |
IENPCBEF_00515 |
482695 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
105T>G |
Leu35Leu |
M0094526 |
IENPCBEF_00515 |
482715 |
16 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
85C>T |
Pro29Ser |
M0094527 |
IENPCBEF_00515 |
482727 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
73A>G |
Thr25Ala |
M0094528 |
IENPCBEF_00516 |
482901 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
156C>T |
Thr52Thr |
M0094529 |
IENPCBEF_00517 |
483258 |
9 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2027G>A |
Arg676Lys |
M0094530 |
IENPCBEF_00517 |
483305 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1980C>T |
Gly660Gly |
M0094531 |
IENPCBEF_00517 |
483323 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1962G>A |
Leu654Leu |
M0094532 |
IENPCBEF_00517 |
483325 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1960C>T |
Leu654Leu |
M0094533 |
IENPCBEF_00517 |
483644 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1641C>T |
Val547Val |
M0094534 |
IENPCBEF_00517 |
484067 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1218C>G |
Leu406Leu |
M0094535 |
IENPCBEF_00517 |
484133 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1152C>G |
Ala384Ala |
M0094536 |
IENPCBEF_00517 |
484208 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1077C>G |
Pro359Pro |
M0094537 |
IENPCBEF_00517 |
484248 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1037G>T |
Gly346Val |
M0094538 |
IENPCBEF_00517 |
484304 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
981C>G |
Gly327Gly |
M0094539 |
IENPCBEF_00517 |
484307 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
978A>G |
Glu326Glu |
M0094540 |
IENPCBEF_00512 |
485401 |
22 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4252C>T |
None |
M0094541 |
IENPCBEF_00512 |
485406 |
22 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4257A>C |
None |
M0094542 |
IENPCBEF_00518 |
485433 |
22 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
27A>G |
Glu9Glu |
M0094543 |
IENPCBEF_00518 |
485508 |
22 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
102G>C |
Leu34Leu |
M0094544 |
IENPCBEF_00518 |
485513 |
22 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
107C>A |
Thr36Lys |
M0094545 |
IENPCBEF_00518 |
485517 |
22 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
111T>C |
Asp37Asp |
M0094546 |
IENPCBEF_00519 |
485676 |
24 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
453A>T |
Gln151His |
M0094547 |
IENPCBEF_00519 |
485677 |
24 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
452A>T |
Gln151Leu |
M0094548 |
IENPCBEF_00519 |
485679 |
24 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
450T>A |
Ser150Arg |
M0094549 |
IENPCBEF_00519 |
485681 |
24 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
448A>T |
Ser150Cys |
M0094550 |
IENPCBEF_00519 |
485682 |
24 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
447A>T |
Arg149Arg |
M0094551 |
IENPCBEF_00522 |
487267 |
23 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
999A>G |
Ala333Ala |
M0094552 |
IENPCBEF_00522 |
487513 |
14 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
753G>A |
Leu251Leu |
M0094553 |
IENPCBEF_00522 |
488183 |
22 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
83G>T |
Gly28Val |
M0094554 |
IENPCBEF_00523 |
488405 |
24 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
485T>G |
Val162Gly |
M0094555 |
IENPCBEF_00523 |
488410 |
24 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
480G>A |
Gln160Gln |
M0094556 |
IENPCBEF_00525 |
489961 |
20 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
220G>A |
Gly74Ser |
M0094557 |
IENPCBEF_00525 |
490063 |
20 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
118C>T |
Pro40Ser |
M0094558 |
IENPCBEF_00643 |
590432 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2161C>T |
Leu721Leu |
M0094559 |
IENPCBEF_00643 |
590979 |
9 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1614A>G |
Ala538Ala |
M0094560 |
IENPCBEF_00643 |
591918 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
675T>A |
Gly225Gly |
M0094561 |
IENPCBEF_00643 |
591968 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
625T>C |
Leu209Leu |
M0094562 |
IENPCBEF_00643 |
592158 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
435A>G |
Glu145Glu |
M0094563 |
IENPCBEF_00643 |
592377 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
216C>A |
His72Gln |
M0094564 |
IENPCBEF_00240 |
226760 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
384G>A |
Ala128Ala |
M0094565 |
IENPCBEF_00240 |
226852 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
292C>T |
Leu98Phe |
M0094566 |
IENPCBEF_00240 |
226868 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
276C>G |
Ala92Ala |
M0094567 |
IENPCBEF_00240 |
226871 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
273T>G |
Thr91Thr |
M0094568 |
IENPCBEF_00240 |
226902 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
242C>G |
Ala81Gly |
M0094569 |
IENPCBEF_00240 |
226916 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
228A>G |
Ala76Ala |
M0094570 |
IENPCBEF_00240 |
226937 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
207G>A |
Gly69Gly |
M0094571 |
IENPCBEF_00240 |
226938 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
206G>A |
Gly69Glu |
M0094572 |
IENPCBEF_00240 |
226939 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
205G>A |
Gly69Arg |
M0094573 |
IENPCBEF_00241 |
227171 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
254C>A |
Ala85Glu |
M0094574 |
IENPCBEF_00241 |
227173 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
252C>T |
Asn84Asn |
M0094575 |
IENPCBEF_00241 |
227228 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
197A>G |
His66Arg |
M0094576 |
IENPCBEF_00241 |
227298 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
127C>T |
Leu43Leu |
M0094577 |
IENPCBEF_00237 |
227477 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3483C>T |
None |
M0094578 |
IENPCBEF_00242 |
227517 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2245T>C |
Phe749Leu |
M0094579 |
IENPCBEF_00242 |
227695 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2067A>G |
Gln689Gln |
M0094580 |
IENPCBEF_00242 |
227698 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2064T>C |
Arg688Arg |
M0094581 |
IENPCBEF_00242 |
227725 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2037T>G |
Arg679Arg |
M0094582 |
IENPCBEF_00242 |
227735 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2027A>G |
Gln676Arg |
M0094583 |
IENPCBEF_00242 |
227740 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2022A>C |
Ala674Ala |
M0094584 |
IENPCBEF_00242 |
227764 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1998T>C |
Ser666Ser |
M0094585 |
IENPCBEF_00242 |
227767 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1995G>A |
Glu665Glu |
M0094586 |
IENPCBEF_00242 |
227833 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1929A>G |
Val643Val |
M0094587 |
IENPCBEF_00242 |
227861 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1901T>C |
Leu634Ser |
M0094588 |
IENPCBEF_00242 |
227866 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1896C>G |
Thr632Thr |
M0094589 |
IENPCBEF_00242 |
227903 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1859T>C |
Val620Ala |
M0094590 |
IENPCBEF_00242 |
228058 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1704C>G |
Val568Val |
M0094591 |
IENPCBEF_00242 |
228059 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1703T>C |
Val568Ala |
M0094592 |
IENPCBEF_00242 |
228070 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1692T>C |
Asp564Asp |
M0094593 |
IENPCBEF_00242 |
228113 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1649A>G |
Gln550Arg |
M0094594 |
IENPCBEF_00495 |
474159 |
6 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4718C>G |
None |
M0094595 |
IENPCBEF_00503 |
474433 |
11 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
143T>C |
Val48Ala |
M0094596 |
IENPCBEF_00503 |
474461 |
14 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
115T>C |
Phe39Leu |
M0094597 |
IENPCBEF_00503 |
474557 |
15 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
19G>A |
Glu7Lys |
M0094598 |
IENPCBEF_00504 |
474601 |
14 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
787G>A |
Asp263Asn |
M0094599 |
IENPCBEF_00504 |
474615 |
14 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
773T>C |
Val258Ala |
M0094600 |
IENPCBEF_00504 |
474627 |
14 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
761G>C |
Arg254Pro |
M0094601 |
IENPCBEF_00504 |
474661 |
14 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
727C>T |
Leu243Leu |
M0094602 |
IENPCBEF_00504 |
474854 |
14 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
534C>A |
Val178Val |
M0094603 |
IENPCBEF_00497 |
475424 |
10 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4321C>T |
None |
M0094604 |
IENPCBEF_00701 |
634525 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
453T>C |
Pro151Pro |
M0094605 |
IENPCBEF_00701 |
634873 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
801G>A |
Pro267Pro |
M0094606 |
IENPCBEF_00701 |
634915 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
843T>C |
Gly281Gly |
M0094607 |
IENPCBEF_00701 |
634951 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
879T>C |
His293His |
M0094608 |
IENPCBEF_00701 |
635044 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
972G>T |
Glu324Asp |
M0094609 |
IENPCBEF_00701 |
635057 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
985G>A |
Ala329Thr |
M0094610 |
IENPCBEF_00701 |
635059 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
987A>G |
Ala329Ala |
M0094611 |
IENPCBEF_00701 |
635138 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1066G>A |
Gly356Ser |
M0094612 |
IENPCBEF_00701 |
635203 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1131C>T |
Asp377Asp |
M0094613 |
IENPCBEF_00701 |
635356 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1284C>G |
Arg428Arg |
M0094614 |
IENPCBEF_00695 |
635546 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4468T>C |
None |
M0094615 |
IENPCBEF_00695 |
635616 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4538T>C |
None |
M0094616 |
IENPCBEF_00695 |
635636 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4558C>T |
None |
M0094617 |
IENPCBEF_00702 |
635677 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
36G>C |
Leu12Leu |
M0094618 |
IENPCBEF_00702 |
635761 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
120G>C |
Ala40Ala |
M0094619 |
IENPCBEF_00702 |
635920 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
279T>G |
Cys93Trp |
M0094620 |
IENPCBEF_00702 |
635977 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
336A>G |
Ala112Ala |
M0094621 |
IENPCBEF_00702 |
636070 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
429G>C |
Leu143Leu |
M0094622 |
IENPCBEF_00702 |
636274 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
633G>A |
Ala211Ala |
M0094623 |
IENPCBEF_00702 |
636392 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
751C>G |
Arg251Gly |
M0094624 |
IENPCBEF_00702 |
636419 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
778G>C |
Gly260Arg |
M0094625 |
IENPCBEF_00697 |
636475 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4749C>A |
None |
M0094626 |
IENPCBEF_00703 |
636489 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
792A>G |
Glu264Glu |
M0094627 |
IENPCBEF_00703 |
636903 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
378G>C |
Leu126Leu |
M0094628 |
IENPCBEF_00703 |
636912 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
369T>G |
Arg123Arg |
M0094629 |
IENPCBEF_00703 |
636999 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
282C>T |
Arg94Arg |
M0094630 |
IENPCBEF_00703 |
637212 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
69A>G |
Leu23Leu |
M0094631 |
IENPCBEF_00704 |
637717 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
183C>G |
Pro61Pro |
M0094632 |
IENPCBEF_00510 |
479292 |
9 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
299G>A |
Arg100Gln |
M0094633 |
IENPCBEF_00513 |
481151 |
18 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
594C>T |
Asp198Asp |
M0094634 |
IENPCBEF_00513 |
481193 |
18 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
552T>C |
Ser184Ser |
M0094635 |
IENPCBEF_00513 |
481208 |
18 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
537G>A |
Arg179Arg |
M0094636 |
IENPCBEF_00513 |
481256 |
18 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
489G>C |
Val163Val |
M0094637 |
IENPCBEF_00515 |
482496 |
18 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
304C>T |
Leu102Leu |
M0094638 |
IENPCBEF_00515 |
482568 |
12 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
232G>A |
Gly78Ser |
M0094639 |
IENPCBEF_00121 |
100156 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
449C>A |
Ala150Asp |
M0094640 |
IENPCBEF_00121 |
100189 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
416T>C |
Val139Ala |
M0094641 |
IENPCBEF_00121 |
100416 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
189A>G |
Gln63Gln |
M0094642 |
IENPCBEF_00121 |
100434 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
171A>G |
Ile57Met |
M0094643 |
IENPCBEF_00121 |
100436 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
169A>G |
Ile57Val |
M0094644 |
IENPCBEF_00121 |
100479 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
126C>T |
Tyr42Tyr |
M0094645 |
IENPCBEF_00121 |
100509 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
96T>C |
Ser32Ser |
M0094646 |
IENPCBEF_00121 |
100548 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
57T>C |
Gly19Gly |
M0094647 |
IENPCBEF_00122 |
100624 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
154G>C |
Val52Leu |
M0094648 |
IENPCBEF_00122 |
100701 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
77A>G |
Lys26Arg |
M0094649 |
IENPCBEF_00122 |
100745 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
33C>T |
Ile11Ile |
M0094650 |
IENPCBEF_00500 |
472357 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
106C>T |
Leu36Phe |
M0094651 |
IENPCBEF_00501 |
472564 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
933C>G |
Leu311Leu |
M0094652 |
IENPCBEF_00501 |
472567 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
930T>C |
Ala310Ala |
M0094653 |
IENPCBEF_00501 |
472615 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
882A>G |
Lys294Lys |
M0094654 |
IENPCBEF_00501 |
472621 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
876T>C |
Arg292Arg |
M0094655 |
IENPCBEF_00501 |
473242 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
255C>T |
Asp85Asp |
M0094656 |
IENPCBEF_00497 |
475782 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4679T>A |
None |
M0094657 |
IENPCBEF_00618 |
559008 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
696G>T |
Lys232Asn |
M0094658 |
IENPCBEF_00618 |
559041 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
663T>C |
Ser221Ser |
M0094659 |
IENPCBEF_00618 |
559071 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
633G>C |
Val211Val |
M0094660 |
IENPCBEF_00618 |
559074 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
630C>T |
Pro210Pro |
M0094661 |
IENPCBEF_00618 |
559091 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
613G>A |
Ala205Thr |
M0094662 |
IENPCBEF_00618 |
559092 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
612C>T |
Ala204Ala |
M0094663 |
IENPCBEF_00618 |
559131 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
573A>G |
Pro191Pro |
M0094664 |
IENPCBEF_00618 |
559221 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
483A>G |
Ala161Ala |
M0094665 |
IENPCBEF_00619 |
560011 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
282T>C |
Phe94Phe |
M0094666 |
IENPCBEF_00620 |
560349 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1506C>T |
Ala502Ala |
M0094667 |
IENPCBEF_00620 |
560384 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1471C>A |
His491Asn |
M0094668 |
IENPCBEF_00620 |
560399 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1456G>T |
Ala486Ser |
M0094669 |
IENPCBEF_00620 |
560400 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1455T>C |
Ile485Ile |
M0094670 |
IENPCBEF_00620 |
560406 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1449G>A |
Arg483Arg |
M0094671 |
IENPCBEF_00620 |
560407 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1448G>A |
Arg483Gln |
M0094672 |
IENPCBEF_00620 |
560408 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1447C>A |
Arg483Arg |
M0094673 |
IENPCBEF_00620 |
560427 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1428G>C |
Arg476Arg |
M0094674 |
IENPCBEF_00620 |
560445 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1410T>C |
Gly470Gly |
M0094675 |
IENPCBEF_00620 |
560448 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1407G>A |
Arg469Arg |
M0094676 |
IENPCBEF_00620 |
560449 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1406G>A |
Arg469Lys |
M0094677 |
IENPCBEF_00620 |
560451 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1404C>G |
Leu468Leu |
M0094678 |
IENPCBEF_00620 |
560505 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1350T>C |
Tyr450Tyr |
M0094679 |
IENPCBEF_00620 |
560508 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1347T>C |
Val449Val |
M0094680 |
IENPCBEF_00620 |
560547 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1308T>C |
Ala436Ala |
M0094681 |
IENPCBEF_00620 |
560550 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1305C>T |
Gly435Gly |
M0094682 |
IENPCBEF_00620 |
560583 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1272G>C |
Thr424Thr |
M0094683 |
IENPCBEF_00620 |
560613 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1242C>T |
Ile414Ile |
M0094684 |
IENPCBEF_00620 |
560616 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1239C>G |
Val413Val |
M0094685 |
IENPCBEF_00620 |
560658 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1197C>T |
Asp399Asp |
M0094686 |
IENPCBEF_00620 |
560733 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1122G>C |
Thr374Thr |
M0094687 |
IENPCBEF_00620 |
560736 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1119C>T |
Thr373Thr |
M0094688 |
IENPCBEF_00620 |
560748 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1107G>C |
Thr369Thr |
M0094689 |
IENPCBEF_00620 |
560871 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
984G>A |
Lys328Lys |
M0094690 |
IENPCBEF_00620 |
560880 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
975C>G |
Leu325Leu |
M0094691 |
IENPCBEF_00620 |
560964 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
891G>C |
Pro297Pro |
M0094692 |
IENPCBEF_00620 |
560967 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
888T>C |
Asn296Asn |
M0094693 |
IENPCBEF_00620 |
560982 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
873T>C |
Asp291Asp |
M0094694 |
IENPCBEF_00643 |
590319 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2274G>A |
Lys758Lys |
M0094695 |
IENPCBEF_00643 |
590325 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2268C>G |
Thr756Thr |
M0094696 |
IENPCBEF_00643 |
590373 |
7 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2220T>C |
Ser740Ser |
M0094697 |
IENPCBEF_00643 |
592421 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
172A>C |
Met58Leu |
M0094698 |
IENPCBEF_00643 |
592473 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
120C>T |
Thr40Thr |
M0094699 |
IENPCBEF_00643 |
592476 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
117T>C |
Ala39Ala |
M0094700 |
IENPCBEF_00641 |
592732 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3091T>C |
None |
M0094701 |
IENPCBEF_00641 |
592739 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3098A>G |
None |
M0094702 |
IENPCBEF_00641 |
592740 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3099T>C |
None |
M0094703 |
IENPCBEF_00641 |
592752 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3111C>T |
None |
M0094704 |
IENPCBEF_00641 |
592755 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3114G>C |
None |
M0094705 |
IENPCBEF_00644 |
592760 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
5C>A |
Thr2Asn |
M0094706 |
IENPCBEF_00644 |
592766 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
11C>T |
Thr4Ile |
M0094707 |
IENPCBEF_00644 |
592771 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
16T>C |
Leu6Leu |
M0094708 |
IENPCBEF_00644 |
592953 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
198G>A |
Val66Val |
M0094709 |
IENPCBEF_00646 |
593386 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
12C>T |
Val4Val |
M0094710 |
IENPCBEF_00646 |
593434 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
60G>A |
Leu20Leu |
M0094711 |
IENPCBEF_00617 |
557830 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
933C>T |
Ser311Ser |
M0094712 |
IENPCBEF_00617 |
557845 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
918C>G |
Ala306Ala |
M0094713 |
IENPCBEF_00617 |
557944 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
819C>G |
Ala273Ala |
M0094714 |
IENPCBEF_00617 |
558019 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
744C>G |
Arg248Arg |
M0094715 |
IENPCBEF_00617 |
558082 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
681G>C |
Gly227Gly |
M0094716 |
IENPCBEF_00619 |
559831 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
462T>C |
Ala154Ala |
M0094717 |
IENPCBEF_00619 |
560046 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
247C>G |
Gln83Glu |
M0094718 |
IENPCBEF_00619 |
560047 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
246G>A |
Lys82Lys |
M0094719 |
IENPCBEF_00619 |
560053 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
240C>T |
Phe80Phe |
M0094720 |
IENPCBEF_00620 |
561339 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
516G>C |
Thr172Thr |
M0094721 |
IENPCBEF_00620 |
561375 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
480T>C |
Phe160Phe |
M0094722 |
IENPCBEF_00620 |
561395 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
460T>C |
Leu154Leu |
M0094723 |
IENPCBEF_00620 |
561396 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
459C>G |
Thr153Thr |
M0094724 |
IENPCBEF_00620 |
561483 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
372C>T |
Val124Val |
M0094725 |
IENPCBEF_00620 |
561519 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
336G>C |
Val112Val |
M0094726 |
IENPCBEF_00620 |
561549 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
306T>C |
Ile102Ile |
M0094727 |
IENPCBEF_00620 |
561687 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
168T>C |
Arg56Arg |
M0094728 |
IENPCBEF_00620 |
561698 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
157T>C |
Leu53Leu |
M0094729 |
IENPCBEF_00620 |
561768 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
87T>C |
Ile29Ile |
M0094730 |
IENPCBEF_00621 |
562000 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
3G>A |
Val1Val |
M0094731 |
IENPCBEF_00621 |
562001 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
4A>G |
Thr2Ala |
M0094732 |
IENPCBEF_00621 |
562003 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
6A>G |
Thr2Thr |
M0094733 |
IENPCBEF_00621 |
562005 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
8A>C |
Asp3Ala |
M0094734 |
IENPCBEF_00621 |
562008 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
11C>G |
Thr4Arg |
M0094735 |
IENPCBEF_00621 |
562009 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
12G>C |
Thr4Thr |
M0094736 |
IENPCBEF_00283 |
277548 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
250A>G |
Ser84Gly |
M0094737 |
IENPCBEF_00283 |
277549 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
249G>A |
Lys83Lys |
M0094738 |
IENPCBEF_00283 |
277550 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
248A>C |
Lys83Thr |
M0094739 |
IENPCBEF_00283 |
277551 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
247A>G |
Lys83Glu |
M0094740 |
IENPCBEF_00283 |
277553 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
245A>C |
Gln82Pro |
M0094741 |
IENPCBEF_00283 |
277555 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
243G>T |
Thr81Thr |
M0094742 |
IENPCBEF_00283 |
277591 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
207C>T |
Val69Val |
M0094743 |
IENPCBEF_00283 |
277657 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
141C>T |
Thr47Thr |
M0094744 |
IENPCBEF_00283 |
277711 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
87C>T |
Ile29Ile |
M0094745 |
IENPCBEF_00283 |
277727 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
71C>G |
Thr24Ser |
M0094746 |
IENPCBEF_00283 |
277753 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
45C>T |
Gly15Gly |
M0094747 |
IENPCBEF_00283 |
277785 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
13G>A |
Glu5Lys |
M0094748 |
IENPCBEF_00284 |
277823 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
276G>A |
Gln92Gln |
M0094749 |
IENPCBEF_00284 |
277829 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
270T>C |
Leu90Leu |
M0094750 |
IENPCBEF_00284 |
277846 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
253G>A |
Val85Ile |
M0094751 |
IENPCBEF_00284 |
277847 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
252C>T |
Ala84Ala |
M0094752 |
IENPCBEF_00284 |
277877 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
222C>T |
Ala74Ala |
M0094753 |
IENPCBEF_00284 |
277918 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
181T>C |
Ser61Pro |
M0094754 |
IENPCBEF_00284 |
277919 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
180T>C |
Thr60Thr |
M0094755 |
IENPCBEF_00284 |
277950 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
149C>T |
Pro50Leu |
M0094756 |
IENPCBEF_00284 |
277958 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
141C>T |
Ala47Ala |
M0094757 |
IENPCBEF_00284 |
278015 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
84C>T |
Ala28Ala |
M0094758 |
IENPCBEF_00284 |
278021 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
78C>T |
Ile26Ile |
M0094759 |
IENPCBEF_00618 |
558972 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
732G>A |
Gly244Gly |
M0094760 |
IENPCBEF_00620 |
561579 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
276T>C |
Phe92Phe |
M0094761 |
IENPCBEF_00621 |
562473 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
476C>T |
Thr159Ile |
M0094762 |
IENPCBEF_00621 |
562475 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
478C>G |
Gln160Glu |
M0094763 |
IENPCBEF_00621 |
562477 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
480G>A |
Gln160Gln |
M0094764 |
IENPCBEF_00621 |
562507 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
510A>G |
Gly170Gly |
M0094765 |
IENPCBEF_00621 |
562591 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
594G>C |
Val198Val |
M0094766 |
IENPCBEF_00621 |
562609 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
612C>T |
Phe204Phe |
M0094767 |
IENPCBEF_00617 |
558586 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
177T>C |
Tyr59Tyr |
M0094768 |
IENPCBEF_00617 |
558697 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
66T>C |
Arg22Arg |
M0094769 |
IENPCBEF_00617 |
558730 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
33G>C |
Leu11Leu |
M0094770 |
IENPCBEF_00619 |
559945 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
348C>T |
Asp116Asp |
M0094771 |
IENPCBEF_00515 |
482425 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
375G>A |
Ala125Ala |
M0094772 |
IENPCBEF_00636 |
582154 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1350T>C |
Gly450Gly |
M0094773 |
IENPCBEF_00636 |
582485 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1019C>T |
Pro340Leu |
M0094774 |
IENPCBEF_00636 |
582841 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
663A>G |
Val221Val |
M0094775 |
IENPCBEF_00636 |
582862 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
642C>A |
Gly214Gly |
M0094776 |
IENPCBEF_00636 |
582868 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
636G>C |
Pro212Pro |
M0094777 |
IENPCBEF_00636 |
582886 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
618A>C |
Val206Val |
M0094778 |
IENPCBEF_00636 |
582940 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
564C>G |
Thr188Thr |
M0094779 |
IENPCBEF_00636 |
583004 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
500A>C |
Glu167Ala |
M0094780 |
IENPCBEF_00636 |
583039 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
465T>C |
Ser155Ser |
M0094781 |
IENPCBEF_00636 |
583051 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
453T>C |
Asn151Asn |
M0094782 |
IENPCBEF_00636 |
583062 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
442C>T |
His148Tyr |
M0094783 |
IENPCBEF_00636 |
583153 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
351C>T |
Phe117Phe |
M0094784 |
IENPCBEF_00636 |
583161 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
343A>G |
Ile115Val |
M0094785 |
IENPCBEF_00242 |
228109 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1653T>C |
Val551Val |
M0094786 |
IENPCBEF_00242 |
228175 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1587T>C |
Asp529Asp |
M0094787 |
IENPCBEF_00242 |
228391 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1371T>C |
Ala457Ala |
M0094788 |
IENPCBEF_00242 |
228451 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1311A>G |
Leu437Leu |
M0094789 |
IENPCBEF_00242 |
228454 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1308G>T |
Pro436Pro |
M0094790 |
IENPCBEF_00242 |
228490 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1272A>G |
Leu424Leu |
M0094791 |
IENPCBEF_00242 |
228787 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
975G>A |
Arg325Arg |
M0094792 |
IENPCBEF_00242 |
228793 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
969C>G |
Thr323Thr |
M0094793 |
IENPCBEF_00242 |
228802 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
960T>C |
His320His |
M0094794 |
IENPCBEF_00242 |
228804 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
958C>G |
His320Asp |
M0094795 |
IENPCBEF_00242 |
228829 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
933G>A |
Glu311Glu |
M0094796 |
IENPCBEF_00242 |
228854 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
908C>A |
Ala303Glu |
M0094797 |
IENPCBEF_00242 |
228973 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
789A>G |
Thr263Thr |
M0094798 |
IENPCBEF_00242 |
228979 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
783A>G |
Gly261Gly |
M0094799 |
IENPCBEF_00512 |
480872 |
8 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
278C>T |
Ala93Val |
M0094800 |
IENPCBEF_00507 |
477589 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
275C>T |
Pro92Leu |
M0094801 |
IENPCBEF_00650 |
596461 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
615G>C |
Leu205Leu |
M0094802 |
IENPCBEF_00650 |
596467 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
609G>A |
Glu203Glu |
M0094803 |
IENPCBEF_00517 |
484796 |
22 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
489C>T |
Ser163Ser |
M0094804 |
IENPCBEF_00517 |
484808 |
22 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
477A>G |
Lys159Lys |
M0094805 |
IENPCBEF_00517 |
484811 |
22 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
474G>A |
Lys158Lys |
M0094806 |
IENPCBEF_00512 |
485321 |
20 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4172A>G |
None |
M0094807 |
IENPCBEF_00512 |
485344 |
13 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4195A>T |
None |
M0094808 |
IENPCBEF_00512 |
485346 |
20 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4197C>T |
None |
M0094809 |
IENPCBEF_00512 |
485350 |
20 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4201T>C |
None |
M0094810 |
IENPCBEF_00512 |
485353 |
20 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4204C>G |
None |
M0094811 |
IENPCBEF_00512 |
485362 |
20 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4213T>C |
None |
M0094812 |
IENPCBEF_00512 |
485366 |
20 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4217G>A |
None |
M0094813 |
IENPCBEF_00512 |
485369 |
20 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4220A>C |
None |
M0094814 |
IENPCBEF_00512 |
485375 |
20 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4226C>T |
None |
M0094815 |
IENPCBEF_00512 |
485383 |
20 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4234C>T |
None |
M0094816 |
IENPCBEF_00518 |
485448 |
20 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
42C>T |
Val14Val |
M0094817 |
IENPCBEF_00518 |
485469 |
20 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
63C>T |
His21His |
M0094818 |
IENPCBEF_00519 |
485745 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
384A>G |
Thr128Thr |
M0094819 |
IENPCBEF_00519 |
485749 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
380A>G |
His127Arg |
M0094820 |
IENPCBEF_00519 |
485775 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
354C>T |
His118His |
M0094821 |
IENPCBEF_00519 |
485776 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
353A>G |
His118Arg |
M0094822 |
IENPCBEF_00519 |
485786 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
343T>C |
Cys115Arg |
M0094823 |
IENPCBEF_00521 |
486497 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
168T>C |
Val56Val |
M0094824 |
IENPCBEF_00522 |
487252 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1014G>A |
Pro338Pro |
M0094825 |
IENPCBEF_00522 |
487282 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
984T>C |
Tyr328Tyr |
M0094826 |
IENPCBEF_00522 |
487285 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
981G>C |
Val327Val |
M0094827 |
IENPCBEF_00522 |
487288 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
978A>C |
Gly326Gly |
M0094828 |
IENPCBEF_00522 |
487293 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
973A>G |
Asn325Asp |
M0094829 |
IENPCBEF_00522 |
487447 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
819G>C |
Ala273Ala |
M0094830 |
IENPCBEF_00522 |
487449 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
817G>A |
Ala273Thr |
M0094831 |
IENPCBEF_00522 |
487462 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
804C>T |
Val268Val |
M0094832 |
IENPCBEF_00522 |
487484 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
782A>T |
Gln261Leu |
M0094833 |
IENPCBEF_00522 |
487615 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
651C>G |
Gly217Gly |
M0094834 |
IENPCBEF_00522 |
487630 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
636T>C |
Val212Val |
M0094835 |
IENPCBEF_00522 |
487678 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
588A>G |
Ala196Ala |
M0094836 |
IENPCBEF_00522 |
487709 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
557G>C |
Ser186Thr |
M0094837 |
IENPCBEF_00522 |
487754 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
512T>C |
Val171Ala |
M0094838 |
IENPCBEF_00522 |
487810 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
456G>A |
Thr152Thr |
M0094839 |
IENPCBEF_00522 |
487815 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
451C>A |
Gln151Lys |
M0094840 |
IENPCBEF_00522 |
487987 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
279C>A |
Thr93Thr |
M0094841 |
IENPCBEF_00522 |
487989 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
277A>G |
Thr93Ala |
M0094842 |
IENPCBEF_00522 |
488016 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
250T>C |
Leu84Leu |
M0094843 |
IENPCBEF_00522 |
488118 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
148A>C |
Thr50Pro |
M0094844 |
IENPCBEF_00522 |
488148 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
118T>G |
Leu40Val |
M0094845 |
IENPCBEF_00517 |
490216 |
18 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4932T>C |
None |
M0094846 |
IENPCBEF_00515 |
482785 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
15C>T |
Pro5Pro |
M0094847 |
IENPCBEF_00124 |
101593 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
136A>C |
Arg46Arg |
M0094848 |
IENPCBEF_00124 |
101594 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
135G>C |
Thr45Thr |
M0094849 |
IENPCBEF_00124 |
101595 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
134C>G |
Thr45Arg |
M0094850 |
IENPCBEF_00124 |
101597 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
132C>A |
Ala44Ala |
M0094851 |
IENPCBEF_00125 |
101780 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
95C>T |
Ala32Val |
M0094852 |
IENPCBEF_00126 |
101943 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
122C>A |
Ala41Glu |
M0094853 |
IENPCBEF_00126 |
101944 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
121G>C |
Ala41Pro |
M0094854 |
IENPCBEF_00126 |
101982 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
83C>G |
Ser28Cys |
M0094855 |
IENPCBEF_00126 |
102038 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
27C>G |
Leu9Leu |
M0094856 |
IENPCBEF_00126 |
102041 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
24A>C |
Ala8Ala |
M0094857 |
IENPCBEF_00127 |
102138 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
265A>G |
Met89Val |
M0094858 |
IENPCBEF_00127 |
102325 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
78A>G |
Glu26Glu |
M0094859 |
IENPCBEF_00128 |
102613 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
37C>T |
His13Tyr |
M0094860 |
IENPCBEF_00118 |
102709 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3371G>A |
None |
M0094861 |
IENPCBEF_00118 |
102711 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3373A>G |
None |
M0094862 |
IENPCBEF_00118 |
102824 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3486C>G |
None |
M0094863 |
IENPCBEF_00118 |
102826 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3488T>G |
None |
M0094864 |
IENPCBEF_00118 |
102831 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3493T>G |
None |
M0094865 |
IENPCBEF_00118 |
102874 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3536A>T |
None |
M0094866 |
IENPCBEF_00129 |
102880 |
4 |
Skin |
0.02 |
protein_coding |
splice_region_variant&stop_retained_variant |
LOW |
479G>A |
Ter160Ter |
M0094867 |
IENPCBEF_00129 |
102913 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
446T>G |
Phe149Cys |
M0094868 |
IENPCBEF_00129 |
102924 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
435C>G |
Asp145Glu |
M0094869 |
IENPCBEF_00129 |
102925 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
434A>G |
Asp145Gly |
M0094870 |
IENPCBEF_00129 |
102929 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
430G>A |
Ala144Thr |
M0094871 |
IENPCBEF_00129 |
103104 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
255G>A |
Ala85Ala |
M0094872 |
IENPCBEF_00129 |
103107 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
252C>T |
Gly84Gly |
M0094873 |
IENPCBEF_00129 |
103110 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
249G>T |
Glu83Asp |
M0094874 |
IENPCBEF_00129 |
103111 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
248A>G |
Glu83Gly |
M0094875 |
IENPCBEF_00129 |
103112 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
247G>A |
Glu83Lys |
M0094876 |
IENPCBEF_00129 |
103113 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
246A>G |
Ala82Ala |
M0094877 |
IENPCBEF_00129 |
103116 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
243A>G |
Pro81Pro |
M0094878 |
IENPCBEF_00129 |
103137 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
222A>G |
Ala74Ala |
M0094879 |
IENPCBEF_00129 |
103146 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
213G>C |
Ser71Ser |
M0094880 |
IENPCBEF_00129 |
103269 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
90T>G |
Asn30Lys |
M0094881 |
IENPCBEF_00130 |
103467 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
453A>G |
Arg151Arg |
M0094882 |
IENPCBEF_00642 |
589722 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
339T>C |
Ile113Ile |
M0094883 |
IENPCBEF_00642 |
589785 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
276C>G |
Leu92Leu |
M0094884 |
IENPCBEF_00642 |
590031 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
30T>C |
Ile10Ile |
M0094885 |
IENPCBEF_00640 |
590066 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2790A>C |
None |
M0094886 |
IENPCBEF_00640 |
590080 |
4 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2804T>C |
None |
M0094887 |
IENPCBEF_00643 |
590085 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2508T>C |
Ala836Ala |
M0094888 |
IENPCBEF_00643 |
590100 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2493C>A |
Ala831Ala |
M0094889 |
IENPCBEF_00643 |
590116 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2477C>T |
Pro826Leu |
M0094890 |
IENPCBEF_00643 |
590119 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2474T>C |
Val825Ala |
M0094891 |
IENPCBEF_00643 |
590124 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2469C>T |
Thr823Thr |
M0094892 |
IENPCBEF_00643 |
590130 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2463G>C |
Ser821Ser |
M0094893 |
IENPCBEF_00643 |
590132 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2461T>C |
Ser821Pro |
M0094894 |
IENPCBEF_00643 |
590136 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2457C>A |
Pro819Pro |
M0094895 |
IENPCBEF_00643 |
590142 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2451G>A |
Lys817Lys |
M0094896 |
IENPCBEF_00643 |
590292 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2301C>T |
Ala767Ala |
M0094897 |
IENPCBEF_00643 |
590781 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1812C>T |
Phe604Phe |
M0094898 |
IENPCBEF_00643 |
592446 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
147A>G |
Pro49Pro |
M0094899 |
IENPCBEF_00643 |
592485 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
108C>G |
Val36Val |
M0094900 |
IENPCBEF_00271 |
269811 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
398T>C |
Met133Thr |
M0094901 |
IENPCBEF_00271 |
269816 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
393G>C |
Leu131Leu |
M0094902 |
IENPCBEF_00271 |
270050 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
159T>C |
Ser53Ser |
M0094903 |
IENPCBEF_00271 |
270082 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
127T>C |
Leu43Leu |
M0094904 |
IENPCBEF_00271 |
270097 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
112A>G |
Lys38Glu |
M0094905 |
IENPCBEF_00271 |
270194 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
15C>G |
Thr5Thr |
M0094906 |
IENPCBEF_00269 |
270209 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2565T>C |
None |
M0094907 |
IENPCBEF_00269 |
270260 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2616C>T |
None |
M0094908 |
IENPCBEF_00272 |
270329 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
203G>T |
Arg68Leu |
M0094909 |
IENPCBEF_00272 |
270443 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
89C>T |
Ser30Leu |
M0094910 |
IENPCBEF_00272 |
270484 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
48T>C |
Tyr16Tyr |
M0094911 |
IENPCBEF_00272 |
270509 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
23G>C |
Ser8Thr |
M0094912 |
IENPCBEF_00272 |
270511 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
21G>A |
Ala7Ala |
M0094913 |
IENPCBEF_00273 |
270542 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
700C>G |
Gln234Glu |
M0094914 |
IENPCBEF_00273 |
270577 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
665G>A |
Arg222Gln |
M0094915 |
IENPCBEF_00273 |
270786 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
456A>C |
Ala152Ala |
M0094916 |
IENPCBEF_00273 |
270823 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
419G>A |
Gly140Asp |
M0094917 |
IENPCBEF_00273 |
270992 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
250G>C |
Ala84Pro |
M0094918 |
IENPCBEF_00273 |
271173 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
69A>G |
Ala23Ala |
M0094919 |
IENPCBEF_00273 |
271195 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
47G>A |
Arg16Lys |
M0094920 |
IENPCBEF_00274 |
271286 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1013T>G |
Ile338Ser |
M0094921 |
IENPCBEF_00274 |
271673 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
626A>C |
Gln209Pro |
M0094922 |
IENPCBEF_00274 |
271684 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
615C>A |
Asn205Lys |
M0094923 |
IENPCBEF_00274 |
271708 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
591C>G |
Leu197Leu |
M0094924 |
IENPCBEF_00275 |
272512 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
5C>A |
Thr2Asn |
M0094925 |
IENPCBEF_00276 |
272708 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
570C>T |
Pro190Pro |
M0094926 |
IENPCBEF_00276 |
272756 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
522T>C |
Asp174Asp |
M0094927 |
IENPCBEF_00526 |
490247 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1077C>G |
Ala359Ala |
M0094928 |
IENPCBEF_00641 |
588697 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
945T>G |
Ala315Ala |
M0094929 |
IENPCBEF_00641 |
588723 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
919A>G |
Thr307Ala |
M0094930 |
IENPCBEF_00641 |
588724 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
918A>G |
Ala306Ala |
M0094931 |
IENPCBEF_00641 |
588732 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
910G>C |
Glu304Gln |
M0094932 |
IENPCBEF_00641 |
588757 |
8 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
885T>C |
Ala295Ala |
M0094933 |
IENPCBEF_00641 |
589255 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
387A>G |
Val129Val |
M0094934 |
IENPCBEF_00641 |
589344 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
298T>G |
Ser100Ala |
M0094935 |
IENPCBEF_00641 |
589348 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
294C>T |
Ile98Ile |
M0094936 |
IENPCBEF_00642 |
589890 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
171T>C |
Phe57Phe |
M0094937 |
IENPCBEF_00642 |
589902 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
159T>C |
Gly53Gly |
M0094938 |
IENPCBEF_00642 |
589911 |
6 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
150T>C |
Gly50Gly |
M0094939 |
IENPCBEF_00642 |
589968 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
93G>A |
Thr31Thr |
M0094940 |
IENPCBEF_00642 |
589973 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
88C>A |
Arg30Arg |
M0094941 |
IENPCBEF_00642 |
589994 |
6 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
67G>A |
Asp23Asn |
M0094942 |
IENPCBEF_00643 |
592503 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
90G>A |
Gly30Gly |
M0094943 |
IENPCBEF_00620 |
561504 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
351G>A |
Lys117Lys |
M0094944 |
IENPCBEF_00621 |
562195 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
198T>C |
Thr66Thr |
M0094945 |
IENPCBEF_00621 |
562258 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
261A>G |
Gly87Gly |
M0094946 |
IENPCBEF_00621 |
562300 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
303G>A |
Glu101Glu |
M0094947 |
IENPCBEF_00621 |
562302 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
305A>T |
Glu102Val |
M0094948 |
IENPCBEF_00621 |
562308 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
311G>A |
Gly104Glu |
M0094949 |
IENPCBEF_00621 |
562309 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
312G>C |
Gly104Gly |
M0094950 |
IENPCBEF_00621 |
562318 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
321G>A |
Gln107Gln |
M0094951 |
IENPCBEF_00621 |
562319 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
322A>C |
Ile108Leu |
M0094952 |
IENPCBEF_00621 |
562321 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
324A>G |
Ile108Met |
M0094953 |
IENPCBEF_00621 |
562408 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
411G>C |
Pro137Pro |
M0094954 |
IENPCBEF_00621 |
562417 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
420C>G |
Thr140Thr |
M0094955 |
IENPCBEF_00621 |
562420 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
423C>G |
Ala141Ala |
M0094956 |
IENPCBEF_00620 |
560685 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1170C>G |
Thr390Thr |
M0094957 |
IENPCBEF_00620 |
560919 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
936C>G |
Gly312Gly |
M0094958 |
IENPCBEF_00620 |
561111 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
744G>A |
Lys248Lys |
M0094959 |
IENPCBEF_00620 |
561132 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
723C>T |
Gly241Gly |
M0094960 |
IENPCBEF_00620 |
561441 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
414C>T |
Arg138Arg |
M0094961 |
IENPCBEF_00620 |
561486 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
369C>T |
Thr123Thr |
M0094962 |
IENPCBEF_00620 |
561492 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
363C>T |
Gly121Gly |
M0094963 |
IENPCBEF_00620 |
561495 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
360T>C |
Cys120Cys |
M0094964 |
IENPCBEF_00620 |
561498 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
357G>T |
Ala119Ala |
M0094965 |
IENPCBEF_00620 |
561501 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
354C>G |
Gly118Gly |
M0094966 |
IENPCBEF_00620 |
561516 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
339C>G |
Gly113Gly |
M0094967 |
IENPCBEF_00620 |
561525 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
330A>G |
Glu110Glu |
M0094968 |
IENPCBEF_00620 |
561608 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
247C>T |
Leu83Leu |
M0094969 |
IENPCBEF_00620 |
561621 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
234C>T |
Asp78Asp |
M0094970 |
IENPCBEF_00620 |
561630 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
225C>T |
Ile75Ile |
M0094971 |
IENPCBEF_00620 |
561723 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
132C>G |
Pro44Pro |
M0094972 |
IENPCBEF_00620 |
561729 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
126C>G |
Val42Val |
M0094973 |
IENPCBEF_00620 |
561746 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
109T>C |
Leu37Leu |
M0094974 |
IENPCBEF_00642 |
589827 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
234C>T |
Asp78Asp |
M0094975 |
IENPCBEF_00642 |
589833 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
228G>A |
Val76Val |
M0094976 |
IENPCBEF_00491 |
464870 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
396G>C |
Pro132Pro |
M0094977 |
IENPCBEF_00491 |
464872 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
394C>G |
Pro132Ala |
M0094978 |
IENPCBEF_00491 |
465217 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
49C>T |
Leu17Phe |
M0094979 |
IENPCBEF_00493 |
465937 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
984T>G |
Pro328Pro |
M0094980 |
IENPCBEF_00493 |
466105 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
816T>C |
Ala272Ala |
M0094981 |
IENPCBEF_00493 |
466245 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
676T>C |
Leu226Leu |
M0094982 |
IENPCBEF_00493 |
466434 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
487A>G |
Thr163Ala |
M0094983 |
IENPCBEF_00493 |
466495 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
426C>T |
Leu142Leu |
M0094984 |
IENPCBEF_00493 |
466630 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
291G>A |
Thr97Thr |
M0094985 |
IENPCBEF_00493 |
466672 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
249T>C |
Ser83Ser |
M0094986 |
IENPCBEF_00179 |
157395 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
102G>A |
Glu34Glu |
M0094987 |
IENPCBEF_00179 |
157413 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
84A>G |
Gly28Gly |
M0094988 |
IENPCBEF_00179 |
157431 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
66T>C |
Asp22Asp |
M0094989 |
IENPCBEF_00179 |
157446 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
51C>T |
Ser17Ser |
M0094990 |
IENPCBEF_00179 |
157448 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
49A>G |
Ser17Gly |
M0094991 |
IENPCBEF_00175 |
157497 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4572A>C |
None |
M0094992 |
IENPCBEF_00175 |
157498 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4573G>A |
None |
M0094993 |
IENPCBEF_00175 |
157500 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4575C>T |
None |
M0094994 |
IENPCBEF_00180 |
157730 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1815G>A |
Glu605Glu |
M0094995 |
IENPCBEF_00180 |
158360 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1185T>C |
Ser395Ser |
M0094996 |
IENPCBEF_00180 |
158399 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1146T>C |
Arg382Arg |
M0094997 |
IENPCBEF_00180 |
158642 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
903C>G |
Ala301Ala |
M0094998 |
IENPCBEF_00181 |
159603 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
481T>C |
Phe161Leu |
M0094999 |
IENPCBEF_00181 |
159904 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
180C>T |
Pro60Pro |
M0095000 |
IENPCBEF_00182 |
160321 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
440A>G |
Gln147Arg |
M0095001 |
IENPCBEF_00182 |
160671 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
90G>C |
Ala30Ala |
M0095002 |
IENPCBEF_00183 |
160946 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
515C>A |
Ala172Glu |
M0095003 |
IENPCBEF_00183 |
160962 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
499G>A |
Ala167Thr |
M0095004 |
IENPCBEF_00242 |
228199 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1563A>G |
Val521Val |
M0095005 |
IENPCBEF_00242 |
228205 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1557T>C |
Gly519Gly |
M0095006 |
IENPCBEF_00242 |
228223 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1539A>G |
Val513Val |
M0095007 |
IENPCBEF_00242 |
228250 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1512G>A |
Arg504Arg |
M0095008 |
IENPCBEF_00242 |
228271 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1491C>G |
Ala497Ala |
M0095009 |
IENPCBEF_00242 |
228325 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1437A>G |
Ala479Ala |
M0095010 |
IENPCBEF_00641 |
589033 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
609C>T |
Ala203Ala |
M0095011 |
IENPCBEF_00641 |
589042 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
600C>T |
Phe200Phe |
M0095012 |
IENPCBEF_00641 |
589045 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
597G>A |
Gly199Gly |
M0095013 |
IENPCBEF_00641 |
589057 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
585C>T |
Gly195Gly |
M0095014 |
IENPCBEF_00523 |
488764 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
126G>T |
Leu42Leu |
M0095015 |
IENPCBEF_00525 |
489989 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
192G>A |
Leu64Leu |
M0095016 |
IENPCBEF_00678 |
624143 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3676A>C |
None |
M0095017 |
IENPCBEF_00678 |
624168 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3701T>C |
None |
M0095018 |
IENPCBEF_00646 |
593515 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
141T>C |
Tyr47Tyr |
M0095019 |
IENPCBEF_00646 |
593518 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
144T>C |
Gly48Gly |
M0095020 |
IENPCBEF_00646 |
593533 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
159G>A |
Pro53Pro |
M0095021 |
IENPCBEF_00646 |
593548 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
174G>A |
Gly58Gly |
M0095022 |
IENPCBEF_00646 |
593551 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
177T>G |
Asp59Glu |
M0095023 |
IENPCBEF_00646 |
593563 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
189T>C |
Tyr63Tyr |
M0095024 |
IENPCBEF_00646 |
593569 |
4 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
195C>T |
Thr65Thr |
M0095025 |
IENPCBEF_00647 |
594306 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
555T>C |
Tyr185Tyr |
M0095026 |
IENPCBEF_00648 |
594795 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
172T>C |
Ser58Pro |
M0095027 |
IENPCBEF_00123 |
101144 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
353G>A |
Arg118His |
M0095028 |
IENPCBEF_00123 |
101159 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
338A>G |
Lys113Arg |
M0095029 |
IENPCBEF_00123 |
101160 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
337A>G |
Lys113Glu |
M0095030 |
IENPCBEF_00123 |
101161 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
336T>G |
Leu112Leu |
M0095031 |
IENPCBEF_00123 |
101179 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
318T>C |
His106His |
M0095032 |
IENPCBEF_00123 |
101297 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
200T>G |
Met67Arg |
M0095033 |
IENPCBEF_00123 |
101317 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
180G>C |
Pro60Pro |
M0095034 |
IENPCBEF_00123 |
101322 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
175G>C |
Val59Leu |
M0095035 |
IENPCBEF_00123 |
101340 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
157C>G |
Pro53Ala |
M0095036 |
IENPCBEF_00123 |
101379 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
118C>A |
Arg40Ser |
M0095037 |
IENPCBEF_00123 |
101428 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
69T>C |
His23His |
M0095038 |
IENPCBEF_00123 |
101441 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
56A>G |
Asp19Gly |
M0095039 |
IENPCBEF_00123 |
101448 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
49G>A |
Val17Ile |
M0095040 |
IENPCBEF_00123 |
101494 |
3 |
Skin |
0.01 |
protein_coding |
start_lost |
HIGH |
3G>C |
Met1? |
M0095041 |
IENPCBEF_00123 |
101495 |
3 |
Skin |
0.01 |
protein_coding |
start_lost |
HIGH |
2T>A |
Met1? |
M0095042 |
IENPCBEF_00123 |
101496 |
3 |
Skin |
0.01 |
protein_coding |
initiator_codon_variant |
LOW |
1A>C |
Met1? |
M0095043 |
IENPCBEF_00116 |
101509 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3948C>T |
None |
M0095044 |
IENPCBEF_00130 |
103530 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
390A>G |
Gln130Gln |
M0095045 |
IENPCBEF_00131 |
104083 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
297G>A |
Pro99Pro |
M0095046 |
IENPCBEF_00488 |
463997 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
34T>C |
Leu12Leu |
M0095047 |
IENPCBEF_00481 |
464042 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4927T>C |
None |
M0095048 |
IENPCBEF_00490 |
464297 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
215C>T |
Thr72Ile |
M0095049 |
IENPCBEF_00490 |
464328 |
4 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
184T>G |
Ser62Ala |
M0095050 |
IENPCBEF_00491 |
464687 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
579G>T |
Thr193Thr |
M0095051 |
IENPCBEF_00491 |
464695 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
571C>A |
Pro191Thr |
M0095052 |
IENPCBEF_00491 |
464696 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
570T>G |
Arg190Arg |
M0095053 |
IENPCBEF_00491 |
464716 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
550C>T |
Leu184Leu |
M0095054 |
IENPCBEF_00491 |
464735 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
531C>A |
Pro177Pro |
M0095055 |
IENPCBEF_00491 |
464750 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
516C>G |
Val172Val |
M0095056 |
IENPCBEF_00491 |
464882 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
384A>T |
Gly128Gly |
M0095057 |
IENPCBEF_00491 |
464903 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
363A>G |
Gln121Gln |
M0095058 |
IENPCBEF_00491 |
464939 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
327C>G |
Leu109Leu |
M0095059 |
IENPCBEF_00491 |
464942 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
324C>G |
Val108Val |
M0095060 |
IENPCBEF_00491 |
464954 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
312C>T |
Asn104Asn |
M0095061 |
IENPCBEF_00491 |
464957 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
309A>G |
Glu103Glu |
M0095062 |
IENPCBEF_00491 |
464962 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
304C>G |
Leu102Val |
M0095063 |
IENPCBEF_00491 |
464963 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
303T>G |
Gly101Gly |
M0095064 |
IENPCBEF_00491 |
464965 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
301G>C |
Gly101Arg |
M0095065 |
IENPCBEF_00491 |
464977 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
289C>G |
Arg97Gly |
M0095066 |
IENPCBEF_00492 |
465359 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
393C>T |
Phe131Phe |
M0095067 |
IENPCBEF_00492 |
465380 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
372G>T |
Pro124Pro |
M0095068 |
IENPCBEF_00492 |
465383 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
369C>T |
Gly123Gly |
M0095069 |
IENPCBEF_00492 |
465389 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
363A>G |
Lys121Lys |
M0095070 |
IENPCBEF_00492 |
465392 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
360G>C |
Arg120Arg |
M0095071 |
IENPCBEF_00492 |
465398 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
354C>G |
Ala118Ala |
M0095072 |
IENPCBEF_00492 |
465399 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
353C>T |
Ala118Val |
M0095073 |
IENPCBEF_00492 |
465400 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
352G>A |
Ala118Thr |
M0095074 |
IENPCBEF_00492 |
465410 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
342G>C |
Gln114His |
M0095075 |
IENPCBEF_00492 |
465508 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
244T>C |
Leu82Leu |
M0095076 |
IENPCBEF_00493 |
465934 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
987A>G |
Glu329Glu |
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 |
IENPCBEF_00674 |
Arsenic (As), Antimony (Sb) |
70.7 |
8.5e-167 |
1 |
433 |
1.0000 |
1.0093 |
experiment |
IENPCBEF_00674 |
Arsenic (As), Antimony (Sb) |
71.4 |
2.3e-165 |
1 |
433 |
1.0000 |
1.0093 |
prediction |
Analyzing antimicrobial resistance genes to assess bacterial resistance to antibiotics and other antimicrobial agents
This table presents antimicrobial resistance genes identified within the plasmid cluster.
Note: Antimicrobial resistance was performed using CARD. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known antimicrobial resistance genes are listed.
Gene Name |
aro_accession |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
drug_class |
amr_gene_family |
resistance_mechanism |
Analysis of pathogenicity genes to explore pathogen-host interactions
This table presents host pathogen-host interactions within the plasmid cluster.
Note: Analyzing pathogenicity-related genes using PHI-base to understand pathogen virulence mechanisms and their impact on host interactions. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e-5) to known pathogenicity-related genes are listed.
Gene Name |
phi_molconn_id |
host gene_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
host_descripton |
disease_name |
function |
phenotype_of_mutant |
Analyzing carbohydrate-active enzyme genes to uncover mechanisms of nutrient degradation
This table presents carbohydrate-active enzyme genes identified within the plasmid cluster.
Note: Annotation of carbohydrate-active enzyme genes was performed using CAZy to explore mechanisms of nutrient breakdown and utilization. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known CAZyme genes are listed.
Gene Name |
cazy_id |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
IENPCBEF_00250 |
AXH00746.1|CE14 |
100 |
7e-202 |
1 |
276 |
1 |
1 |
IENPCBEF_00254 |
QLG10512.1|CBM0 |
72.6 |
0 |
1 |
751 |
1 |
1 |
IENPCBEF_00335 |
AXH00813.1|CBM50 |
100 |
6.87e-158 |
1 |
256 |
1 |
1 |
IENPCBEF_00362 |
AXH01164.1|CBM50 |
79.5 |
1.3e-182 |
68 |
414 |
0.8382 |
0.977 |
IENPCBEF_00523 |
AXH00960.1|CBM50 |
100 |
2.71e-134 |
1 |
198 |
1 |
0.9802 |
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 |
IENPCBEF_00312 |
2.A.55.3.7 |
70.7 |
7.8e-164 |
13 |
432 |
0.9722 |
0.9633 |
2 |
Electrochemical Potential-driven Transporters |
2.A |
Porters (uniporters, symporters, antiporters) |
2.A.55 |
The Metal Ion (Mn2+-iron) Transporter (Nramp) Family |
IENPCBEF_00708 |
4.A.2.1.18 |
79.4 |
2.9e-249 |
1 |
590 |
0.9883 |
0.9849 |
4 |
Group Translocators |
4.A |
Phosphotransfer-driven Group Translocators (PTS) |
4.A.2 |
The PTS Fructose-Mannitol (Fru) Family |