Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C2272 |
Reference Plasmid |
1111525849758776_bin.22__k141_220081 |
Reference Plasmid Size |
66164 |
Reference Plasmid GC Content |
0.66 |
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 |
M0032409 |
KFCBJHNM_00013 |
17984 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
423C>T |
Phe141Phe |
M0032410 |
KFCBJHNM_00013 |
18011 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
396C>T |
Thr132Thr |
M0032411 |
KFCBJHNM_00013 |
18044 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
363A>G |
Glu121Glu |
M0032412 |
KFCBJHNM_00013 |
18055 |
8 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
352G>T |
Val118Leu |
M0032413 |
KFCBJHNM_00013 |
18056 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
351A>G |
Ala117Ala |
M0032414 |
KFCBJHNM_00013 |
18134 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
273C>G |
Gly91Gly |
M0032415 |
KFCBJHNM_00013 |
18240 |
8 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
167T>C |
Val56Ala |
M0032416 |
KFCBJHNM_00013 |
18252 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
155C>A |
Ala52Glu |
M0032417 |
KFCBJHNM_00013 |
18310 |
8 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
97G>C |
Glu33Gln |
M0032418 |
KFCBJHNM_00013 |
18349 |
8 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
58A>G |
Thr20Ala |
M0032419 |
KFCBJHNM_00014 |
18433 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
810A>C |
Arg270Arg |
M0032420 |
KFCBJHNM_00014 |
18727 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
516T>C |
Asp172Asp |
M0032421 |
KFCBJHNM_00014 |
18730 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
513G>A |
Ser171Ser |
M0032422 |
KFCBJHNM_00014 |
19144 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
99G>C |
Ala33Ala |
M0032423 |
KFCBJHNM_00014 |
19185 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
58G>A |
Val20Ile |
M0032424 |
KFCBJHNM_00010 |
19281 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4618G>A |
None |
M0032425 |
KFCBJHNM_00015 |
19312 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
2373G>A |
Glu791Glu |
M0032426 |
KFCBJHNM_00015 |
19426 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
2259A>C |
Arg753Arg |
M0032427 |
KFCBJHNM_00015 |
19699 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1986C>G |
Leu662Leu |
M0032428 |
KFCBJHNM_00015 |
19702 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1983C>G |
Pro661Pro |
M0032429 |
KFCBJHNM_00015 |
19717 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1968G>C |
Gly656Gly |
M0032430 |
KFCBJHNM_00015 |
19786 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1899C>G |
Ser633Ser |
M0032431 |
KFCBJHNM_00015 |
19789 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1896G>C |
Val632Val |
M0032432 |
KFCBJHNM_00015 |
19792 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1893A>G |
Ser631Ser |
M0032433 |
KFCBJHNM_00015 |
19795 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1890T>C |
Ala630Ala |
M0032434 |
KFCBJHNM_00015 |
19798 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1887C>G |
Gly629Gly |
M0032435 |
KFCBJHNM_00015 |
19802 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1883A>T |
Tyr628Phe |
M0032436 |
KFCBJHNM_00015 |
19804 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1881T>C |
Ala627Ala |
M0032437 |
KFCBJHNM_00015 |
19806 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1879G>T |
Ala627Ser |
M0032438 |
KFCBJHNM_00001 |
7951 |
3 |
Skin |
0.06 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4369G>T |
None |
M0032439 |
KFCBJHNM_00006 |
9640 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
450T>C |
Ile150Ile |
M0032440 |
KFCBJHNM_00006 |
9775 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
315A>G |
Pro105Pro |
M0032441 |
KFCBJHNM_00032 |
45106 |
8 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4662A>G |
None |
M0032442 |
KFCBJHNM_00032 |
45151 |
8 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4707G>A |
None |
M0032443 |
KFCBJHNM_00036 |
45329 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1563C>T |
Ile521Ile |
M0032444 |
KFCBJHNM_00036 |
45785 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
1107T>C |
Gly369Gly |
M0032445 |
KFCBJHNM_00036 |
46015 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
877T>C |
Phe293Leu |
M0032446 |
KFCBJHNM_00036 |
46049 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
843C>G |
Pro281Pro |
M0032447 |
KFCBJHNM_00036 |
46223 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
669A>G |
Gly223Gly |
M0032448 |
KFCBJHNM_00036 |
46334 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
558T>C |
Ala186Ala |
M0032449 |
KFCBJHNM_00036 |
46643 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
249A>G |
Lys83Lys |
M0032450 |
KFCBJHNM_00036 |
46820 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
72A>G |
Val24Val |
M0032451 |
KFCBJHNM_00036 |
46838 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
54T>C |
Ala18Ala |
M0032452 |
KFCBJHNM_00036 |
46841 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
51T>C |
Pro17Pro |
M0032453 |
KFCBJHNM_00033 |
46920 |
7 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4224T>C |
None |
M0032454 |
KFCBJHNM_00033 |
46977 |
8 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4281T>C |
None |
M0032455 |
KFCBJHNM_00037 |
47039 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1752A>G |
Lys584Lys |
M0032456 |
KFCBJHNM_00037 |
47237 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1554T>C |
Asn518Asn |
M0032457 |
KFCBJHNM_00037 |
47321 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1470T>C |
Arg490Arg |
M0032458 |
KFCBJHNM_00037 |
47735 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1056A>G |
Leu352Leu |
M0032459 |
KFCBJHNM_00037 |
48002 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
789G>A |
Ala263Ala |
M0032460 |
KFCBJHNM_00037 |
48008 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
783A>G |
Pro261Pro |
M0032461 |
KFCBJHNM_00037 |
48068 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
723T>C |
Asp241Asp |
M0032462 |
KFCBJHNM_00037 |
48092 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
699A>G |
Lys233Lys |
M0032463 |
KFCBJHNM_00037 |
48239 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
552G>A |
Lys184Lys |
M0032464 |
KFCBJHNM_00033 |
41199 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1498A>T |
Met500Leu |
M0032465 |
KFCBJHNM_00033 |
41323 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1374A>C |
Ala458Ala |
M0032466 |
KFCBJHNM_00033 |
42259 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
438A>C |
Pro146Pro |
M0032467 |
KFCBJHNM_00032 |
42738 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2294C>T |
None |
M0032468 |
KFCBJHNM_00032 |
42749 |
8 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2305T>C |
None |
M0032469 |
KFCBJHNM_00032 |
42815 |
8 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2371C>G |
None |
M0032470 |
KFCBJHNM_00034 |
42903 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1036T>C |
Leu346Leu |
M0032471 |
KFCBJHNM_00034 |
43288 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
651G>A |
Ala217Ala |
M0032472 |
KFCBJHNM_00034 |
43591 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
348A>G |
Thr116Thr |
M0032473 |
KFCBJHNM_00034 |
43601 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
338G>A |
Gly113Asp |
M0032474 |
KFCBJHNM_00034 |
43602 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
337G>A |
Gly113Ser |
M0032475 |
KFCBJHNM_00034 |
43815 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
124G>A |
Val42Ile |
M0032476 |
KFCBJHNM_00035 |
44081 |
9 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
948T>C |
Ala316Ala |
M0032477 |
KFCBJHNM_00035 |
44138 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
891T>C |
Leu297Leu |
M0032478 |
KFCBJHNM_00035 |
44699 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
330A>G |
Val110Val |
M0032479 |
KFCBJHNM_00036 |
45686 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1206T>C |
Gly402Gly |
M0032480 |
KFCBJHNM_00036 |
46160 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
732C>G |
Leu244Leu |
M0032481 |
KFCBJHNM_00036 |
46167 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
725A>C |
Gln242Pro |
M0032482 |
KFCBJHNM_00036 |
46168 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
724C>A |
Gln242Lys |
M0032483 |
KFCBJHNM_00036 |
46415 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
477T>C |
Thr159Thr |
M0032484 |
KFCBJHNM_00038 |
49375 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
463G>A |
Asp155Asn |
M0032485 |
KFCBJHNM_00039 |
50174 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
477A>G |
Ala159Ala |
M0032486 |
KFCBJHNM_00039 |
50351 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
654T>C |
Asn218Asn |
M0032487 |
KFCBJHNM_00039 |
50706 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1009A>C |
Asn337His |
M0032488 |
KFCBJHNM_00039 |
50707 |
8 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1010A>C |
Asn337Thr |
M0032489 |
KFCBJHNM_00036 |
51821 |
7 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4930A>C |
None |
M0032490 |
KFCBJHNM_00036 |
51887 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4996G>A |
None |
M0032491 |
KFCBJHNM_00015 |
20008 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1677T>C |
Ser559Ser |
M0032492 |
KFCBJHNM_00015 |
20047 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1638T>C |
Ala546Ala |
M0032493 |
KFCBJHNM_00015 |
20068 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1617C>T |
Ala539Ala |
M0032494 |
KFCBJHNM_00015 |
20432 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1253G>A |
Gly418Glu |
M0032495 |
KFCBJHNM_00015 |
20784 |
8 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
901G>A |
Ala301Thr |
M0032496 |
KFCBJHNM_00015 |
20821 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
864T>C |
Ala288Ala |
M0032497 |
KFCBJHNM_00015 |
20824 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
861A>G |
Val287Val |
M0032498 |
KFCBJHNM_00015 |
20980 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
705C>G |
Gly235Gly |
M0032499 |
KFCBJHNM_00015 |
20983 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
702G>T |
Gly234Gly |
M0032500 |
KFCBJHNM_00015 |
21178 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
507T>C |
Ile169Ile |
M0032501 |
KFCBJHNM_00015 |
21180 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
505A>G |
Ile169Val |
M0032502 |
KFCBJHNM_00015 |
21185 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
500A>G |
Lys167Arg |
M0032503 |
KFCBJHNM_00015 |
21238 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
447A>C |
Gly149Gly |
M0032504 |
KFCBJHNM_00015 |
21346 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
339C>G |
Asp113Glu |
M0032505 |
KFCBJHNM_00015 |
21550 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
135T>C |
His45His |
M0032506 |
KFCBJHNM_00015 |
21556 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
129C>G |
Leu43Leu |
M0032507 |
KFCBJHNM_00015 |
21592 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
93C>G |
Leu31Leu |
M0032508 |
KFCBJHNM_00015 |
21661 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
24T>C |
Pro8Pro |
M0032509 |
KFCBJHNM_00016 |
21695 |
8 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1411C>G |
Gln471Glu |
M0032510 |
KFCBJHNM_00016 |
21700 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1406G>A |
Arg469Gln |
M0032511 |
KFCBJHNM_00016 |
21750 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1356T>C |
Arg452Arg |
M0032512 |
KFCBJHNM_00016 |
21813 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1293T>C |
Ala431Ala |
M0032513 |
KFCBJHNM_00016 |
21885 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1221C>T |
Thr407Thr |
M0032514 |
KFCBJHNM_00016 |
22104 |
8 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1002G>C |
Leu334Leu |
M0032515 |
KFCBJHNM_00016 |
22240 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
866A>G |
His289Arg |
M0032516 |
KFCBJHNM_00016 |
22282 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
824G>A |
Arg275Lys |
M0032517 |
KFCBJHNM_00037 |
48710 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
81C>G |
Gly27Gly |
M0032518 |
KFCBJHNM_00037 |
48728 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
63C>G |
Ala21Ala |
M0032519 |
KFCBJHNM_00037 |
48731 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
60C>G |
Ala20Ala |
M0032520 |
KFCBJHNM_00037 |
48734 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
57G>C |
Leu19Leu |
M0032521 |
KFCBJHNM_00037 |
48736 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
55C>T |
Leu19Leu |
M0032522 |
KFCBJHNM_00037 |
48738 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
53G>C |
Ser18Thr |
M0032523 |
KFCBJHNM_00037 |
48739 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
52A>G |
Ser18Gly |
M0032524 |
KFCBJHNM_00037 |
48740 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
51C>G |
Thr17Thr |
M0032525 |
KFCBJHNM_00037 |
48743 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
48C>T |
Gly16Gly |
M0032526 |
KFCBJHNM_00037 |
48746 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
45G>C |
Leu15Leu |
M0032527 |
KFCBJHNM_00037 |
48748 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
43C>A |
Leu15Met |
M0032528 |
KFCBJHNM_00037 |
48749 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
42G>C |
Leu14Leu |
M0032529 |
KFCBJHNM_00034 |
48804 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4866C>A |
None |
M0032530 |
KFCBJHNM_00034 |
48891 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4953G>A |
None |
M0032531 |
KFCBJHNM_00038 |
49341 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
429A>G |
Glu143Glu |
M0032532 |
KFCBJHNM_00039 |
50336 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
639G>A |
Glu213Glu |
M0032533 |
KFCBJHNM_00017 |
23686 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
336G>C |
Ser112Ser |
M0032534 |
KFCBJHNM_00017 |
23689 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
333A>G |
Lys111Lys |
M0032535 |
KFCBJHNM_00017 |
23710 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
312C>G |
His104Gln |
M0032536 |
KFCBJHNM_00017 |
23815 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
207C>T |
Gly69Gly |
M0032537 |
KFCBJHNM_00017 |
23838 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
184C>A |
Gln62Lys |
M0032538 |
KFCBJHNM_00017 |
23856 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
166C>G |
Gln56Glu |
M0032539 |
KFCBJHNM_00017 |
23890 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
132C>A |
Ile44Ile |
M0032540 |
KFCBJHNM_00017 |
23915 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
107T>C |
Val36Ala |
M0032541 |
KFCBJHNM_00018 |
24022 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1361G>C |
Arg454Thr |
M0032542 |
KFCBJHNM_00018 |
24097 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1286A>G |
Gln429Arg |
M0032543 |
KFCBJHNM_00018 |
24181 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1202G>A |
Ser401Asn |
M0032544 |
KFCBJHNM_00018 |
24288 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1095T>C |
Ser365Ser |
M0032545 |
KFCBJHNM_00018 |
24360 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1023C>T |
Ser341Ser |
M0032546 |
KFCBJHNM_00018 |
24462 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
921G>A |
Gly307Gly |
M0032547 |
KFCBJHNM_00018 |
24474 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
909G>A |
Glu303Glu |
M0032548 |
KFCBJHNM_00018 |
24675 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
708A>G |
Ala236Ala |
M0032549 |
KFCBJHNM_00018 |
24804 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
579G>C |
Thr193Thr |
M0032550 |
KFCBJHNM_00018 |
24897 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
486C>T |
Pro162Pro |
M0032551 |
KFCBJHNM_00018 |
24912 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
471C>T |
Gly157Gly |
M0032552 |
KFCBJHNM_00018 |
25191 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
192T>C |
Val64Val |
M0032553 |
KFCBJHNM_00018 |
25233 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
150G>C |
Ala50Ala |
M0032554 |
KFCBJHNM_00018 |
25298 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
85C>G |
Gln29Glu |
M0032555 |
KFCBJHNM_00019 |
25502 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1125A>C |
Val375Val |
M0032556 |
KFCBJHNM_00019 |
25702 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
925G>A |
Ala309Thr |
M0032557 |
KFCBJHNM_00019 |
25730 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
897A>G |
Ala299Ala |
M0032558 |
KFCBJHNM_00019 |
25953 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
674A>G |
Gln225Arg |
M0032559 |
KFCBJHNM_00019 |
26021 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
606A>G |
Leu202Leu |
M0032560 |
KFCBJHNM_00019 |
26129 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
498A>G |
Gly166Gly |
M0032561 |
KFCBJHNM_00016 |
22740 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
366A>G |
Glu122Glu |
M0032562 |
KFCBJHNM_00016 |
22752 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
354T>C |
Ser118Ser |
M0032563 |
KFCBJHNM_00016 |
22764 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
342C>G |
Gly114Gly |
M0032564 |
KFCBJHNM_00016 |
22940 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
166A>G |
Asn56Asp |
M0032565 |
KFCBJHNM_00016 |
22943 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
163T>C |
Ser55Pro |
M0032566 |
KFCBJHNM_00016 |
22944 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
162C>T |
Arg54Arg |
M0032567 |
KFCBJHNM_00016 |
22977 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
129T>G |
Gly43Gly |
M0032568 |
KFCBJHNM_00016 |
22980 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
126G>A |
Glu42Glu |
M0032569 |
KFCBJHNM_00017 |
23320 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
702T>C |
Ser234Ser |
M0032570 |
KFCBJHNM_00017 |
23331 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
691A>C |
Arg231Arg |
M0032571 |
KFCBJHNM_00017 |
23338 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
684A>G |
Ala228Ala |
M0032572 |
KFCBJHNM_00017 |
23341 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
681C>G |
Gly227Gly |
M0032573 |
KFCBJHNM_00017 |
23365 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
657C>G |
Gly219Gly |
M0032574 |
KFCBJHNM_00017 |
23512 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
510T>C |
Ser170Ser |
M0032575 |
KFCBJHNM_00017 |
23566 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
456T>C |
His152His |
M0032576 |
KFCBJHNM_00017 |
23588 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
434C>A |
Ser145Tyr |
M0032577 |
KFCBJHNM_00017 |
23590 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
432C>T |
Gly144Gly |
M0032578 |
KFCBJHNM_00017 |
23602 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
420T>C |
Arg140Arg |
M0032579 |
KFCBJHNM_00018 |
24300 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1083G>A |
Val361Val |
M0032580 |
KFCBJHNM_00018 |
24999 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
384T>C |
Gly128Gly |
M0032581 |
KFCBJHNM_00018 |
25197 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
186G>C |
Ala62Ala |
M0032582 |
KFCBJHNM_00018 |
25272 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
111C>T |
Ile37Ile |
M0032583 |
KFCBJHNM_00018 |
25311 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
72T>C |
Gly24Gly |
M0032584 |
KFCBJHNM_00019 |
26117 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
510C>T |
Asp170Asp |
M0032585 |
KFCBJHNM_00019 |
26213 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
414C>G |
Arg138Arg |
M0032586 |
KFCBJHNM_00019 |
26387 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
240C>T |
Gly80Gly |
M0032587 |
KFCBJHNM_00020 |
26740 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1248C>G |
Arg416Arg |
M0032588 |
KFCBJHNM_00020 |
26903 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1085T>C |
Val362Ala |
M0032589 |
KFCBJHNM_00020 |
26923 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1065G>A |
Ser355Ser |
M0032590 |
KFCBJHNM_00020 |
27145 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
843A>G |
Gln281Gln |
M0032591 |
KFCBJHNM_00020 |
27155 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
833A>C |
Gln278Pro |
M0032592 |
KFCBJHNM_00020 |
27169 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
819A>G |
Pro273Pro |
M0032593 |
KFCBJHNM_00020 |
27252 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
736A>G |
Thr246Ala |
M0032594 |
KFCBJHNM_00020 |
27319 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
669G>T |
Leu223Leu |
M0032595 |
KFCBJHNM_00020 |
27504 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
484A>G |
Ser162Gly |
M0032596 |
KFCBJHNM_00020 |
27769 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
219C>T |
Asp73Asp |
M0032597 |
KFCBJHNM_00020 |
27772 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
216C>G |
Ala72Ala |
M0032598 |
KFCBJHNM_00020 |
27833 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
155C>T |
Ala52Val |
M0032599 |
KFCBJHNM_00020 |
27842 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
146T>G |
Val49Gly |
M0032600 |
KFCBJHNM_00020 |
27888 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
100A>C |
Met34Leu |
M0032601 |
KFCBJHNM_00021 |
28031 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
806A>G |
Asp269Gly |
M0032602 |
KFCBJHNM_00021 |
28309 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
528A>G |
Gly176Gly |
M0032603 |
KFCBJHNM_00021 |
28702 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
135G>A |
Gln45Gln |
M0032604 |
KFCBJHNM_00021 |
28820 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
17A>G |
Asn6Ser |
M0032605 |
KFCBJHNM_00017 |
28866 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4845A>C |
None |
M0032606 |
KFCBJHNM_00017 |
28867 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4846C>T |
None |
M0032607 |
KFCBJHNM_00017 |
28868 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4847C>T |
None |
M0032608 |
KFCBJHNM_00017 |
28919 |
7 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4898A>C |
None |
M0032609 |
KFCBJHNM_00022 |
29344 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1185C>T |
Asn395Asn |
M0032610 |
KFCBJHNM_00022 |
29350 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1179C>A |
Ala393Ala |
M0032611 |
KFCBJHNM_00022 |
29352 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1177G>A |
Ala393Thr |
M0032612 |
KFCBJHNM_00022 |
29473 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1056A>G |
Lys352Lys |
M0032613 |
KFCBJHNM_00022 |
29474 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1055A>C |
Lys352Thr |
M0032614 |
KFCBJHNM_00022 |
29475 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1054A>G |
Lys352Glu |
M0032615 |
KFCBJHNM_00022 |
29476 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1053G>C |
Glu351Asp |
M0032616 |
KFCBJHNM_00022 |
29477 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1052A>C |
Glu351Ala |
M0032617 |
KFCBJHNM_00022 |
29485 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1044G>C |
Ala348Ala |
M0032618 |
KFCBJHNM_00022 |
29488 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1041G>C |
Glu347Asp |
M0032619 |
KFCBJHNM_00022 |
29626 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
903A>C |
Ile301Ile |
M0032620 |
KFCBJHNM_00022 |
29629 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
900A>C |
Arg300Arg |
M0032621 |
KFCBJHNM_00022 |
29863 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
666A>G |
Lys222Lys |
M0032622 |
KFCBJHNM_00022 |
29866 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
663G>C |
Pro221Pro |
M0032623 |
KFCBJHNM_00022 |
29959 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
570C>G |
Thr190Thr |
M0032624 |
KFCBJHNM_00022 |
29960 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
569C>T |
Thr190Ile |
M0032625 |
KFCBJHNM_00022 |
29961 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
568A>G |
Thr190Ala |
M0032626 |
KFCBJHNM_00022 |
29977 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
552C>G |
Val184Val |
M0032627 |
KFCBJHNM_00022 |
29980 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
549C>T |
His183His |
M0032628 |
KFCBJHNM_00022 |
29983 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
546G>A |
Lys182Lys |
M0032629 |
KFCBJHNM_00022 |
29986 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
543G>A |
Glu181Glu |
M0032630 |
KFCBJHNM_00022 |
30313 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
216T>C |
Pro72Pro |
M0032631 |
KFCBJHNM_00022 |
30382 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
147T>C |
Asn49Asn |
M0032632 |
KFCBJHNM_00019 |
30549 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3923T>G |
None |
M0032633 |
KFCBJHNM_00019 |
30550 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3924C>T |
None |
M0032634 |
KFCBJHNM_00019 |
30553 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3927C>T |
None |
M0032635 |
KFCBJHNM_00023 |
30899 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
963T>C |
Gly321Gly |
M0032636 |
KFCBJHNM_00023 |
30977 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
885T>C |
Ser295Ser |
M0032637 |
KFCBJHNM_00023 |
30983 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
879G>T |
Leu293Leu |
M0032638 |
KFCBJHNM_00023 |
30985 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
877C>A |
Leu293Met |
M0032639 |
KFCBJHNM_00023 |
31283 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
579T>C |
Asp193Asp |
M0032640 |
KFCBJHNM_00023 |
31304 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
558T>G |
Leu186Leu |
M0032641 |
KFCBJHNM_00024 |
31935 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
27G>C |
Gln9His |
M0032642 |
KFCBJHNM_00024 |
32094 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
186G>A |
Arg62Arg |
M0032643 |
KFCBJHNM_00024 |
32113 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
205C>G |
Gln69Glu |
M0032644 |
KFCBJHNM_00024 |
32124 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
216T>G |
Ala72Ala |
M0032645 |
KFCBJHNM_00024 |
32145 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
237T>C |
Ala79Ala |
M0032646 |
KFCBJHNM_00024 |
32409 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
501T>C |
Ile167Ile |
M0032647 |
KFCBJHNM_00024 |
32412 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
504A>G |
Gly168Gly |
M0032648 |
KFCBJHNM_00024 |
32451 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
543A>G |
Gln181Gln |
M0032649 |
KFCBJHNM_00020 |
32473 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4486A>G |
None |
M0032650 |
KFCBJHNM_00025 |
32746 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
231G>A |
Glu77Glu |
M0032651 |
KFCBJHNM_00025 |
33145 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
630A>G |
Val210Val |
M0032652 |
KFCBJHNM_00025 |
33184 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
669G>A |
Ser223Ser |
M0032653 |
KFCBJHNM_00019 |
26573 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
54T>G |
Ile18Met |
M0032654 |
KFCBJHNM_00021 |
28573 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
264C>G |
Val88Val |
M0032655 |
KFCBJHNM_00017 |
28893 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4872T>C |
None |
M0032656 |
KFCBJHNM_00022 |
29128 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1401G>A |
Gln467Gln |
M0032657 |
KFCBJHNM_00023 |
30788 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1074C>T |
Ser358Ser |
M0032658 |
KFCBJHNM_00023 |
30884 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
978G>T |
Gly326Gly |
M0032659 |
KFCBJHNM_00025 |
33211 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
696G>C |
Gln232His |
M0032660 |
KFCBJHNM_00026 |
33397 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
10G>A |
Ala4Thr |
M0032661 |
KFCBJHNM_00026 |
33434 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
47G>A |
Arg16Gln |
M0032662 |
KFCBJHNM_00026 |
33558 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
171C>G |
Gly57Gly |
M0032663 |
KFCBJHNM_00026 |
33560 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
173A>G |
Asn58Ser |
M0032664 |
KFCBJHNM_00026 |
33592 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
205T>C |
Tyr69His |
M0032665 |
KFCBJHNM_00026 |
33699 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
312A>G |
Val104Val |
M0032666 |
KFCBJHNM_00022 |
29560 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
969C>T |
Ile323Ile |
M0032667 |
KFCBJHNM_00001 |
7846 |
3 |
Skin |
0.06 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4264A>G |
None |
M0032668 |
KFCBJHNM_00007 |
10185 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
648A>G |
Glu216Glu |
M0032669 |
KFCBJHNM_00007 |
10764 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
69G>C |
Val23Val |
M0032670 |
KFCBJHNM_00008 |
10982 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1254T>C |
Thr418Thr |
M0032671 |
KFCBJHNM_00008 |
11140 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1096G>A |
Val366Ile |
M0032672 |
KFCBJHNM_00008 |
11174 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1062G>C |
Gly354Gly |
M0032673 |
KFCBJHNM_00008 |
11873 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
363T>C |
Asn121Asn |
M0032674 |
KFCBJHNM_00008 |
12017 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
219T>C |
Ser73Ser |
M0032675 |
KFCBJHNM_00008 |
12059 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
177C>T |
Ser59Ser |
M0032676 |
KFCBJHNM_00008 |
12095 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
141T>C |
Ser47Ser |
M0032677 |
KFCBJHNM_00008 |
12206 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
30G>A |
Ala10Ala |
M0032678 |
KFCBJHNM_00010 |
13476 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1188T>C |
Ala396Ala |
M0032679 |
KFCBJHNM_00010 |
14346 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
318T>C |
Ser106Ser |
M0032680 |
KFCBJHNM_00010 |
14657 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
7A>G |
Thr3Ala |
M0032681 |
KFCBJHNM_00011 |
14947 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
120G>C |
Thr40Thr |
M0032682 |
KFCBJHNM_00011 |
15040 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
213C>G |
Ala71Ala |
M0032683 |
KFCBJHNM_00011 |
15190 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
363A>G |
Ala121Ala |
M0032684 |
KFCBJHNM_00011 |
15210 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
383G>A |
Ser128Asn |
M0032685 |
KFCBJHNM_00011 |
15334 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
507A>G |
Pro169Pro |
M0032686 |
KFCBJHNM_00012 |
15849 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
336T>C |
Arg112Arg |
M0032687 |
KFCBJHNM_00012 |
16008 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
495T>C |
Leu165Leu |
M0032688 |
KFCBJHNM_00012 |
16278 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
765C>T |
Ser255Ser |
M0032689 |
KFCBJHNM_00012 |
16446 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
933T>C |
Asn311Asn |
M0032690 |
KFCBJHNM_00012 |
16816 |
3 |
Skin |
0.06 |
protein_coding |
stop_lost&splice_region_variant |
HIGH |
1303T>C |
Ter435Glnext*? |
M0032691 |
KFCBJHNM_00008 |
17004 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4769T>C |
None |
M0032692 |
KFCBJHNM_00008 |
17012 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4777G>T |
None |
M0032693 |
KFCBJHNM_00013 |
17079 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1328T>C |
Ile443Thr |
M0032694 |
KFCBJHNM_00013 |
17080 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1327A>G |
Ile443Val |
M0032695 |
KFCBJHNM_00013 |
17081 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1326C>G |
Ala442Ala |
M0032696 |
KFCBJHNM_00013 |
17108 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1299T>C |
Ala433Ala |
M0032697 |
KFCBJHNM_00013 |
17147 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1260G>T |
Thr420Thr |
M0032698 |
KFCBJHNM_00013 |
17187 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1220A>G |
Asn407Ser |
M0032699 |
KFCBJHNM_00013 |
17225 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1182G>A |
Pro394Pro |
M0032700 |
KFCBJHNM_00013 |
17354 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1053G>T |
Leu351Leu |
M0032701 |
KFCBJHNM_00013 |
17356 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1051C>G |
Leu351Val |
M0032702 |
KFCBJHNM_00013 |
17357 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1050C>A |
Gly350Gly |
M0032703 |
KFCBJHNM_00013 |
17360 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1047T>C |
Gly349Gly |
M0032704 |
KFCBJHNM_00013 |
17361 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1046G>A |
Gly349Asp |
M0032705 |
KFCBJHNM_00013 |
17363 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1044A>G |
Glu348Glu |
M0032706 |
KFCBJHNM_00013 |
17364 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1043A>C |
Glu348Ala |
M0032707 |
KFCBJHNM_00013 |
17372 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1035T>G |
Leu345Leu |
M0032708 |
KFCBJHNM_00013 |
17374 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1033C>T |
Leu345Phe |
M0032709 |
KFCBJHNM_00013 |
17539 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
868G>A |
Ala290Thr |
M0032710 |
KFCBJHNM_00013 |
17668 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
739T>C |
Leu247Leu |
M0032711 |
KFCBJHNM_00013 |
17669 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
738G>A |
Glu246Glu |
M0032712 |
KFCBJHNM_00013 |
17694 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
713G>T |
Gly238Val |
M0032713 |
KFCBJHNM_00013 |
17708 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
699T>C |
His233His |
M0032714 |
KFCBJHNM_00013 |
17774 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
633G>C |
Ser211Ser |
M0032715 |
KFCBJHNM_00013 |
17777 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
630C>G |
Ala210Ala |
M0032716 |
KFCBJHNM_00013 |
17783 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
624A>C |
Leu208Leu |
M0032717 |
KFCBJHNM_00013 |
17786 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
621C>G |
Ser207Ser |
M0032718 |
KFCBJHNM_00013 |
17930 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
477A>G |
Ala159Ala |
M0032719 |
KFCBJHNM_00014 |
18457 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
786G>A |
Val262Val |
M0032720 |
KFCBJHNM_00015 |
19750 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1935C>T |
Arg645Arg |
M0032721 |
KFCBJHNM_00015 |
19873 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1812G>C |
Gly604Gly |
M0032722 |
KFCBJHNM_00015 |
19887 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1798T>C |
Leu600Leu |
M0032723 |
KFCBJHNM_00015 |
19888 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1797G>A |
Gln599Gln |
M0032724 |
KFCBJHNM_00015 |
19891 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1794C>G |
Thr598Thr |
M0032725 |
KFCBJHNM_00015 |
19894 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1791A>C |
Arg597Arg |
M0032726 |
KFCBJHNM_00015 |
19945 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1740C>G |
Pro580Pro |
M0032727 |
KFCBJHNM_00015 |
20536 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1149C>T |
Arg383Arg |
M0032728 |
KFCBJHNM_00015 |
20782 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
903C>A |
Ala301Ala |
M0032729 |
KFCBJHNM_00015 |
20989 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
696G>C |
Arg232Arg |
M0032730 |
KFCBJHNM_00015 |
21195 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
490T>G |
Ser164Ala |
M0032731 |
KFCBJHNM_00015 |
21199 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
486G>C |
Gly162Gly |
M0032732 |
KFCBJHNM_00015 |
21454 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
231T>C |
Thr77Thr |
M0032733 |
KFCBJHNM_00015 |
21502 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
183G>T |
Leu61Leu |
M0032734 |
KFCBJHNM_00016 |
21894 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1212G>A |
Val404Val |
M0032735 |
KFCBJHNM_00016 |
22103 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1003T>C |
Ser335Pro |
M0032736 |
KFCBJHNM_00016 |
22179 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
927C>T |
Asp309Asp |
M0032737 |
KFCBJHNM_00016 |
22206 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
900T>C |
Asn300Asn |
M0032738 |
KFCBJHNM_00016 |
22668 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
438G>C |
Gly146Gly |
M0032739 |
KFCBJHNM_00016 |
22926 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
180T>C |
Gly60Gly |
M0032740 |
KFCBJHNM_00016 |
22931 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
175A>G |
Ser59Gly |
M0032741 |
KFCBJHNM_00032 |
40718 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-274C>T |
None |
M0032742 |
KFCBJHNM_00032 |
40821 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-377C>T |
None |
M0032743 |
KFCBJHNM_00032 |
40838 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-394C>T |
None |
M0032744 |
KFCBJHNM_00033 |
41515 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1182T>C |
Asn394Asn |
M0032745 |
KFCBJHNM_00034 |
42844 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1095G>C |
Ala365Ala |
M0032746 |
KFCBJHNM_00034 |
43258 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
681C>T |
Pro227Pro |
M0032747 |
KFCBJHNM_00035 |
44740 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
289T>C |
Leu97Leu |
M0032748 |
KFCBJHNM_00032 |
45139 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4695G>T |
None |
M0032749 |
KFCBJHNM_00036 |
46172 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
720G>A |
Lys240Lys |
M0032750 |
KFCBJHNM_00036 |
46176 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
716G>C |
Ser239Thr |
M0032751 |
KFCBJHNM_00037 |
47837 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
954G>A |
Lys318Lys |
M0032752 |
KFCBJHNM_00037 |
48113 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
678G>C |
Gly226Gly |
M0032753 |
KFCBJHNM_00038 |
49095 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
183C>T |
Arg61Arg |
M0032754 |
KFCBJHNM_00017 |
23740 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
282A>G |
Glu94Glu |
M0032755 |
KFCBJHNM_00013 |
17399 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1008G>A |
Gly336Gly |
M0032756 |
KFCBJHNM_00013 |
17528 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
879T>C |
His293His |
M0032757 |
KFCBJHNM_00013 |
17817 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
590G>A |
Arg197Lys |
M0032758 |
KFCBJHNM_00013 |
17822 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
585C>G |
Thr195Thr |
M0032759 |
KFCBJHNM_00013 |
17823 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
584C>A |
Thr195Asn |
M0032760 |
KFCBJHNM_00013 |
17824 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
583A>C |
Thr195Pro |
M0032761 |
KFCBJHNM_00015 |
19435 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
2250G>A |
Glu750Glu |
M0032762 |
KFCBJHNM_00015 |
21349 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
336C>T |
Ala112Ala |
M0032763 |
KFCBJHNM_00015 |
21481 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
204G>C |
Lys68Asn |
M0032764 |
KFCBJHNM_00015 |
21482 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
203A>G |
Lys68Arg |
M0032765 |
KFCBJHNM_00015 |
21483 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
202A>G |
Lys68Glu |
M0032766 |
KFCBJHNM_00015 |
21487 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
198C>G |
Ala66Ala |
M0032767 |
KFCBJHNM_00015 |
21490 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
195G>C |
Pro65Pro |
M0032768 |
KFCBJHNM_00015 |
21493 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
192T>G |
Ala64Ala |
M0032769 |
KFCBJHNM_00015 |
21496 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
189G>C |
Thr63Thr |
M0032770 |
KFCBJHNM_00015 |
21498 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
187A>C |
Thr63Pro |
M0032771 |
KFCBJHNM_00015 |
21505 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
180G>C |
Arg60Arg |
M0032772 |
KFCBJHNM_00016 |
21711 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1395C>T |
His465His |
M0032773 |
KFCBJHNM_00017 |
23401 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
621T>C |
Tyr207Tyr |
M0032774 |
KFCBJHNM_00022 |
34270 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3742T>G |
None |
M0032775 |
KFCBJHNM_00027 |
34754 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
336T>C |
Arg112Arg |
M0032776 |
KFCBJHNM_00027 |
34781 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
363T>C |
Ser121Ser |
M0032777 |
KFCBJHNM_00027 |
35192 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
774T>C |
Tyr258Tyr |
M0032778 |
KFCBJHNM_00028 |
35230 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
15G>A |
Gln5Gln |
M0032779 |
KFCBJHNM_00028 |
35482 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
267T>C |
Arg89Arg |
M0032780 |
KFCBJHNM_00028 |
35512 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
297A>C |
Pro99Pro |
M0032781 |
KFCBJHNM_00028 |
35863 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
648T>C |
His216His |
M0032782 |
KFCBJHNM_00023 |
36031 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4170A>G |
None |
M0032783 |
KFCBJHNM_00029 |
36377 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
321G>A |
Ala107Ala |
M0032784 |
KFCBJHNM_00029 |
36965 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
909A>G |
Ala303Ala |
M0032785 |
KFCBJHNM_00029 |
37250 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1194G>A |
Lys398Lys |
M0032786 |
KFCBJHNM_00030 |
37736 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
396A>C |
Val132Val |
M0032787 |
KFCBJHNM_00030 |
37973 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
633G>C |
Gly211Gly |
M0032788 |
KFCBJHNM_00031 |
38529 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
302T>C |
Val101Ala |
M0032789 |
KFCBJHNM_00031 |
38530 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
303C>A |
Val101Val |
M0032790 |
KFCBJHNM_00031 |
38953 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
726T>C |
Ser242Ser |
M0032791 |
KFCBJHNM_00031 |
39134 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
907T>C |
Leu303Leu |
M0032792 |
KFCBJHNM_00027 |
39215 |
6 |
Skin |
0.13 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3999T>C |
None |
M0032793 |
KFCBJHNM_00032 |
39596 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
849G>A |
Leu283Leu |
M0032794 |
KFCBJHNM_00032 |
39598 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
847C>T |
Leu283Leu |
M0032795 |
KFCBJHNM_00032 |
39599 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
846G>C |
Arg282Arg |
M0032796 |
KFCBJHNM_00032 |
39602 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
843T>G |
Gly281Gly |
M0032797 |
KFCBJHNM_00032 |
39605 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
840C>T |
His280His |
M0032798 |
KFCBJHNM_00032 |
39731 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
714G>C |
Pro238Pro |
M0032799 |
KFCBJHNM_00032 |
39758 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
687T>C |
Asn229Asn |
M0032800 |
KFCBJHNM_00032 |
39760 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
685A>G |
Asn229Asp |
M0032801 |
KFCBJHNM_00032 |
39922 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
523G>C |
Ala175Pro |
M0032802 |
KFCBJHNM_00032 |
40041 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
404G>A |
Gly135Asp |
M0032803 |
KFCBJHNM_00032 |
40130 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
315A>G |
Pro105Pro |
M0032804 |
KFCBJHNM_00032 |
40184 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
261G>C |
Arg87Arg |
M0032805 |
KFCBJHNM_00032 |
40249 |
7 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
196A>G |
Arg66Gly |
M0032806 |
KFCBJHNM_00032 |
40313 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
132A>G |
Glu44Glu |
M0032807 |
KFCBJHNM_00032 |
40390 |
7 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
55T>C |
Leu19Leu |
M0032808 |
KFCBJHNM_00032 |
40469 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-25C>T |
None |
M0032809 |
KFCBJHNM_00032 |
40537 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-93C>T |
None |
M0032810 |
KFCBJHNM_00032 |
40558 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-114G>A |
None |
M0032811 |
KFCBJHNM_00032 |
40654 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-210T>G |
None |
M0032812 |
KFCBJHNM_00032 |
40766 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-322C>T |
None |
M0032813 |
KFCBJHNM_00037 |
47610 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1181A>G |
Lys394Arg |
M0032814 |
KFCBJHNM_00039 |
50839 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1142T>C |
Ile381Thr |
M0032815 |
KFCBJHNM_00039 |
50855 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1158C>T |
His386His |
M0032816 |
KFCBJHNM_00039 |
50856 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1159C>T |
Leu387Phe |
M0032817 |
KFCBJHNM_00040 |
51316 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
447A>G |
Thr149Thr |
M0032818 |
KFCBJHNM_00036 |
51801 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4910G>T |
None |
M0032819 |
KFCBJHNM_00036 |
51875 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4984G>T |
None |
M0032820 |
KFCBJHNM_00036 |
51888 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4997A>C |
None |
M0032821 |
KFCBJHNM_00040 |
50950 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
81A>G |
Gln27Gln |
M0032822 |
KFCBJHNM_00040 |
50959 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
90G>C |
Ala30Ala |
M0032823 |
KFCBJHNM_00040 |
51247 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
378A>G |
Ala126Ala |
M0032824 |
KFCBJHNM_00040 |
51295 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
426C>T |
Thr142Thr |
M0032825 |
KFCBJHNM_00022 |
34087 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3559T>C |
None |
M0032826 |
KFCBJHNM_00027 |
34712 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
294C>T |
Arg98Arg |
M0032827 |
KFCBJHNM_00028 |
35257 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
42C>T |
Ser14Ser |
M0032828 |
KFCBJHNM_00029 |
36371 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
315C>T |
Ser105Ser |
M0032829 |
KFCBJHNM_00029 |
36647 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
591T>C |
Ser197Ser |
M0032830 |
KFCBJHNM_00029 |
37052 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
996C>G |
Ala332Ala |
M0032831 |
KFCBJHNM_00029 |
37216 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1160G>A |
Arg387Lys |
M0032832 |
KFCBJHNM_00029 |
37220 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1164T>C |
Ala388Ala |
M0032833 |
KFCBJHNM_00030 |
37793 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
453G>A |
Val151Val |
M0032834 |
KFCBJHNM_00031 |
38257 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
30G>A |
Ala10Ala |
M0032835 |
KFCBJHNM_00031 |
38866 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
639A>G |
Arg213Arg |
M0032836 |
KFCBJHNM_00027 |
39258 |
3 |
Skin |
0.06 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4042G>A |
None |
M0032837 |
KFCBJHNM_00032 |
39662 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
783G>A |
Lys261Lys |
M0032838 |
KFCBJHNM_00032 |
39663 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
782A>G |
Lys261Arg |
M0032839 |
KFCBJHNM_00032 |
39665 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
780G>C |
Gly260Gly |
M0032840 |
KFCBJHNM_00032 |
40168 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
277A>G |
Met93Val |
M0032841 |
KFCBJHNM_00032 |
40572 |
3 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-128T>C |
None |
M0032842 |
KFCBJHNM_00032 |
40589 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-145G>A |
None |
M0032843 |
KFCBJHNM_00035 |
44486 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
543T>C |
Pro181Pro |
M0032844 |
KFCBJHNM_00035 |
45014 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
15C>G |
Ala5Ala |
M0032845 |
KFCBJHNM_00029 |
36632 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
576G>C |
Gly192Gly |
M0032846 |
KFCBJHNM_00039 |
50609 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
912A>G |
Val304Val |
M0032847 |
KFCBJHNM_00039 |
50786 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1089C>T |
Asn363Asn |
M0032848 |
KFCBJHNM_00013 |
17687 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
720G>A |
Glu240Glu |
M0032849 |
KFCBJHNM_00010 |
19267 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4604C>A |
None |
M0032850 |
KFCBJHNM_00015 |
19648 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
2037G>C |
Leu679Leu |
M0032851 |
KFCBJHNM_00013 |
17876 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
531G>C |
Thr177Thr |
M0032852 |
KFCBJHNM_00015 |
19780 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1905C>G |
Val635Val |
M0032853 |
KFCBJHNM_00016 |
22950 |
3 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
156G>C |
Leu52Leu |
M0032854 |
KFCBJHNM_00016 |
22952 |
3 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
154C>G |
Leu52Val |
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 |
KFCBJHNM_00044 |
ULH17133.1|GH4 |
77.5 |
2.05e-247 |
1 |
432 |
1 |
1 |
Analyzing transport proteins to understand bacterial strategies for substrate uptake and detoxification
This table presents transport proteins within the plasmid cluster.
Note: Investigation of transport proteins based on TCDB to uncover bacterial mechanisms of substrate transport and environmental detoxification. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known transport protein entries are listed.
Gene Name |
tcid |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
class_field |
class_term |
subclass |
subclass_term |
family |
family_term |