Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C2584 |
Reference Plasmid |
1111525849854017_bin.1__k141_13121 |
Reference Plasmid Size |
34307 |
Reference Plasmid GC Content |
0.60 |
Reference Plasmid Mobility Type |
non-mobilizable |
Mutation sites in the plasmid cluster
The table lists mutations identified in the plasmid cluster.
Note: Mutations identified in this plasmid cluster are listed below. Click on a mutation ID to view full details..
mutid |
gname |
pos |
count |
tissue |
frequnt |
biotype |
consequence |
impact |
nucchange |
aachange |
M0047876 |
BNLHKGKM_00014 |
16507 |
10 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
342C>G |
Val114Val |
M0047877 |
BNLHKGKM_00014 |
16528 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
321C>T |
Phe107Phe |
M0047878 |
BNLHKGKM_00014 |
16734 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
115T>C |
Leu39Leu |
M0047879 |
BNLHKGKM_00015 |
16984 |
12 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
685C>T |
Leu229Leu |
M0047880 |
BNLHKGKM_00015 |
17129 |
20 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
540T>C |
Ala180Ala |
M0047881 |
BNLHKGKM_00015 |
17456 |
12 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
213C>T |
Ser71Ser |
M0047882 |
BNLHKGKM_00017 |
18786 |
21 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1965C>T |
His655His |
M0047883 |
BNLHKGKM_00017 |
18816 |
22 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1935C>T |
Asp645Asp |
M0047884 |
BNLHKGKM_00017 |
18840 |
21 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1911G>A |
Ala637Ala |
M0047885 |
BNLHKGKM_00017 |
18858 |
21 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1893C>T |
Ile631Ile |
M0047886 |
BNLHKGKM_00017 |
18876 |
21 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1875C>T |
Gly625Gly |
M0047887 |
BNLHKGKM_00017 |
20565 |
13 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
186A>G |
Ala62Ala |
M0047888 |
BNLHKGKM_00018 |
21223 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
453T>G |
Leu151Leu |
M0047889 |
BNLHKGKM_00018 |
21283 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
393T>C |
Ala131Ala |
M0047890 |
BNLHKGKM_00018 |
21322 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
354C>T |
Gly118Gly |
M0047891 |
BNLHKGKM_00018 |
21373 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
303T>C |
Phe101Phe |
M0047892 |
BNLHKGKM_00018 |
21546 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
130G>A |
Asp44Asn |
M0047893 |
BNLHKGKM_00018 |
21639 |
27 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
37C>G |
Pro13Ala |
M0047894 |
BNLHKGKM_00014 |
16264 |
21 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
585C>T |
Thr195Thr |
M0047895 |
BNLHKGKM_00014 |
16279 |
22 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
570T>C |
Ser190Ser |
M0047896 |
BNLHKGKM_00014 |
16306 |
21 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
543C>T |
Arg181Arg |
M0047897 |
BNLHKGKM_00014 |
16324 |
22 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
525T>C |
Gly175Gly |
M0047898 |
BNLHKGKM_00015 |
17249 |
14 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
420G>A |
Ala140Ala |
M0047899 |
BNLHKGKM_00015 |
17516 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
153T>C |
Asp51Asp |
M0047900 |
BNLHKGKM_00016 |
18100 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
357C>G |
Pro119Pro |
M0047901 |
BNLHKGKM_00016 |
18116 |
9 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
341G>A |
Ser114Asn |
M0047902 |
BNLHKGKM_00017 |
19043 |
19 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
1708A>G |
Ile570Val |
M0047903 |
BNLHKGKM_00017 |
19073 |
19 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
1678G>A |
Ala560Thr |
M0047904 |
BNLHKGKM_00017 |
19092 |
19 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1659T>C |
Arg553Arg |
M0047905 |
BNLHKGKM_00017 |
19338 |
20 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1413A>G |
Gln471Gln |
M0047906 |
BNLHKGKM_00017 |
19356 |
18 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
1395A>G |
Gly465Gly |
M0047907 |
BNLHKGKM_00017 |
19725 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1026C>T |
Gly342Gly |
M0047908 |
BNLHKGKM_00017 |
20250 |
17 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
501T>C |
His167His |
M0047909 |
BNLHKGKM_00018 |
20928 |
12 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
748T>C |
Tyr250His |
M0047910 |
BNLHKGKM_00018 |
20940 |
12 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
736G>A |
Val246Ile |
M0047911 |
BNLHKGKM_00018 |
21486 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
190A>G |
Ile64Val |
M0047912 |
BNLHKGKM_00019 |
22080 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
238G>A |
Ala80Thr |
M0047913 |
BNLHKGKM_00019 |
22087 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
231C>T |
Val77Val |
M0047914 |
BNLHKGKM_00003 |
4512 |
10 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
783C>T |
Arg261Arg |
M0047915 |
BNLHKGKM_00003 |
4530 |
10 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
765C>T |
Arg255Arg |
M0047916 |
BNLHKGKM_00003 |
4610 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
685A>G |
Thr229Ala |
M0047917 |
BNLHKGKM_00003 |
4614 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
681G>T |
Gly227Gly |
M0047918 |
BNLHKGKM_00003 |
4620 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
675T>C |
Arg225Arg |
M0047919 |
BNLHKGKM_00003 |
4636 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
659G>A |
Gly220Asp |
M0047920 |
BNLHKGKM_00003 |
4641 |
46 |
Skin |
0.35 |
protein_coding |
synonymous_variant |
LOW |
654A>C |
Ile218Ile |
M0047921 |
BNLHKGKM_00003 |
4651 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
644G>A |
Arg215Gln |
M0047922 |
BNLHKGKM_00003 |
4679 |
10 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
616T>C |
Leu206Leu |
M0047923 |
BNLHKGKM_00003 |
4713 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
582A>G |
Glu194Glu |
M0047924 |
BNLHKGKM_00003 |
4725 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
570A>C |
Ala190Ala |
M0047925 |
BNLHKGKM_00003 |
4734 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
561G>A |
Ala187Ala |
M0047926 |
BNLHKGKM_00003 |
4773 |
13 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
522A>G |
Lys174Lys |
M0047927 |
BNLHKGKM_00003 |
4785 |
10 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
510G>A |
Glu170Glu |
M0047928 |
BNLHKGKM_00003 |
4818 |
15 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
477A>G |
Gly159Gly |
M0047929 |
BNLHKGKM_00003 |
4944 |
18 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
351C>T |
Phe117Phe |
M0047930 |
BNLHKGKM_00003 |
4947 |
18 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
348C>T |
Asp116Asp |
M0047931 |
BNLHKGKM_00003 |
4950 |
18 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
345C>T |
Arg115Arg |
M0047932 |
BNLHKGKM_00003 |
4968 |
19 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
327A>G |
Glu109Glu |
M0047933 |
BNLHKGKM_00003 |
5028 |
25 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
267T>G |
Leu89Leu |
M0047934 |
BNLHKGKM_00003 |
5031 |
25 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
264T>C |
Ser88Ser |
M0047935 |
BNLHKGKM_00003 |
5068 |
24 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
227C>A |
Ala76Asp |
M0047936 |
BNLHKGKM_00003 |
5091 |
23 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
204C>G |
His68Gln |
M0047937 |
BNLHKGKM_00003 |
5103 |
23 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
192C>T |
Ser64Ser |
M0047938 |
BNLHKGKM_00004 |
6083 |
40 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
966T>C |
Arg322Arg |
M0047939 |
BNLHKGKM_00004 |
6116 |
39 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
933C>A |
Val311Val |
M0047940 |
BNLHKGKM_00004 |
6380 |
57 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
669G>A |
Glu223Glu |
M0047941 |
BNLHKGKM_00004 |
6396 |
57 |
Skin |
0.43 |
protein_coding |
missense_variant |
MODERATE |
653A>C |
Asn218Thr |
M0047942 |
BNLHKGKM_00004 |
6413 |
57 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
636G>A |
Leu212Leu |
M0047943 |
BNLHKGKM_00004 |
6434 |
57 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
615A>C |
Thr205Thr |
M0047944 |
BNLHKGKM_00004 |
6443 |
57 |
Skin |
0.43 |
protein_coding |
missense_variant |
MODERATE |
606A>C |
Lys202Asn |
M0047945 |
BNLHKGKM_00004 |
6445 |
57 |
Skin |
0.43 |
protein_coding |
missense_variant |
MODERATE |
604A>C |
Lys202Gln |
M0047946 |
BNLHKGKM_00004 |
6452 |
57 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
597G>A |
Ala199Ala |
M0047947 |
BNLHKGKM_00004 |
6453 |
57 |
Skin |
0.43 |
protein_coding |
missense_variant |
MODERATE |
596C>A |
Ala199Glu |
M0047948 |
BNLHKGKM_00004 |
6457 |
57 |
Skin |
0.43 |
protein_coding |
missense_variant |
MODERATE |
592G>A |
Asp198Asn |
M0047949 |
BNLHKGKM_00004 |
6462 |
57 |
Skin |
0.43 |
protein_coding |
missense_variant |
MODERATE |
587C>T |
Pro196Leu |
M0047950 |
BNLHKGKM_00004 |
6467 |
57 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
582G>C |
Leu194Leu |
M0047951 |
BNLHKGKM_00004 |
6500 |
57 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
549G>C |
Leu183Leu |
M0047952 |
BNLHKGKM_00004 |
6533 |
57 |
Skin |
0.43 |
protein_coding |
synonymous_variant |
LOW |
516A>G |
Ala172Ala |
M0047953 |
BNLHKGKM_00004 |
6555 |
56 |
Skin |
0.42 |
protein_coding |
missense_variant |
MODERATE |
494A>G |
Asn165Ser |
M0047954 |
BNLHKGKM_00004 |
6577 |
56 |
Skin |
0.42 |
protein_coding |
missense_variant |
MODERATE |
472C>A |
His158Asn |
M0047955 |
BNLHKGKM_00004 |
6602 |
56 |
Skin |
0.42 |
protein_coding |
synonymous_variant |
LOW |
447G>A |
Leu149Leu |
M0047956 |
BNLHKGKM_00004 |
6605 |
56 |
Skin |
0.42 |
protein_coding |
synonymous_variant |
LOW |
444T>C |
Ser148Ser |
M0047957 |
BNLHKGKM_00004 |
6646 |
54 |
Skin |
0.41 |
protein_coding |
missense_variant |
MODERATE |
403G>A |
Ala135Thr |
M0047958 |
BNLHKGKM_00004 |
6653 |
54 |
Skin |
0.41 |
protein_coding |
synonymous_variant |
LOW |
396A>G |
Ala132Ala |
M0047959 |
BNLHKGKM_00002 |
2840 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1436A>G |
His479Arg |
M0047960 |
BNLHKGKM_00002 |
3385 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
891T>C |
Ser297Ser |
M0047961 |
BNLHKGKM_00002 |
3388 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
888C>T |
Gly296Gly |
M0047962 |
BNLHKGKM_00003 |
5238 |
38 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
57C>T |
Ile19Ile |
M0047963 |
BNLHKGKM_00004 |
6002 |
23 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1047A>G |
Arg349Arg |
M0047964 |
BNLHKGKM_00005 |
7243 |
19 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
248G>A |
Arg83His |
M0047965 |
BNLHKGKM_00005 |
7271 |
18 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
220G>C |
Gly74Arg |
M0047966 |
BNLHKGKM_00005 |
7282 |
18 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
209C>T |
Ala70Val |
M0047967 |
BNLHKGKM_00005 |
7298 |
18 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
193C>G |
Arg65Gly |
M0047968 |
BNLHKGKM_00005 |
7305 |
18 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
186T>G |
His62Gln |
M0047969 |
BNLHKGKM_00005 |
7334 |
17 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
157G>A |
Val53Met |
M0047970 |
BNLHKGKM_00005 |
7404 |
13 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
87A>T |
Thr29Thr |
M0047971 |
BNLHKGKM_00005 |
7407 |
13 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
84G>A |
Leu28Leu |
M0047972 |
BNLHKGKM_00005 |
7410 |
13 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
81T>G |
Ala27Ala |
M0047973 |
BNLHKGKM_00005 |
7419 |
13 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
72C>G |
Ala24Ala |
M0047974 |
BNLHKGKM_00005 |
7440 |
12 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
51C>T |
Arg17Arg |
M0047975 |
BNLHKGKM_00005 |
7443 |
12 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
48A>C |
Ser16Ser |
M0047976 |
BNLHKGKM_00005 |
7449 |
12 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
42C>T |
Pro14Pro |
M0047977 |
BNLHKGKM_00005 |
7488 |
13 |
Skin |
0.10 |
protein_coding |
start_lost |
HIGH |
3G>A |
Met1? |
M0047978 |
BNLHKGKM_00005 |
7489 |
13 |
Skin |
0.10 |
protein_coding |
start_lost |
HIGH |
2T>C |
Met1? |
M0047979 |
BNLHKGKM_00006 |
7501 |
13 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
588G>A |
Glu196Glu |
M0047980 |
BNLHKGKM_00006 |
7503 |
13 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
586G>A |
Glu196Lys |
M0047981 |
BNLHKGKM_00006 |
7504 |
13 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
585C>A |
Asp195Glu |
M0047982 |
BNLHKGKM_00006 |
7512 |
13 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
577A>C |
Ile193Leu |
M0047983 |
BNLHKGKM_00006 |
7546 |
13 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
543T>A |
Pro181Pro |
M0047984 |
BNLHKGKM_00006 |
7561 |
13 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
528C>T |
Ile176Ile |
M0047985 |
BNLHKGKM_00006 |
7563 |
13 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
526A>G |
Ile176Val |
M0047986 |
BNLHKGKM_00006 |
7595 |
13 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
494G>A |
Arg165Gln |
M0047987 |
BNLHKGKM_00006 |
7597 |
13 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
492C>G |
Val164Val |
M0047988 |
BNLHKGKM_00006 |
7599 |
13 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
490G>C |
Val164Leu |
M0047989 |
BNLHKGKM_00006 |
7629 |
12 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
460G>A |
Val154Ile |
M0047990 |
BNLHKGKM_00006 |
7645 |
12 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
444G>A |
Gly148Gly |
M0047991 |
BNLHKGKM_00006 |
7648 |
12 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
441T>C |
Ile147Ile |
M0047992 |
BNLHKGKM_00006 |
7663 |
12 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
426C>A |
Arg142Arg |
M0047993 |
BNLHKGKM_00006 |
7672 |
12 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
417A>T |
Gly139Gly |
M0047994 |
BNLHKGKM_00006 |
7680 |
12 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
409C>T |
Leu137Leu |
M0047995 |
BNLHKGKM_00006 |
7720 |
12 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
369C>T |
Leu123Leu |
M0047996 |
BNLHKGKM_00006 |
7726 |
13 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
363A>G |
Glu121Glu |
M0047997 |
BNLHKGKM_00006 |
7774 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
315G>A |
Pro105Pro |
M0047998 |
BNLHKGKM_00006 |
7825 |
10 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
264T>C |
Gly88Gly |
M0047999 |
BNLHKGKM_00007 |
8513 |
72 |
Skin |
0.55 |
protein_coding |
missense_variant |
MODERATE |
1492C>G |
Gln498Glu |
M0048000 |
BNLHKGKM_00007 |
8526 |
72 |
Skin |
0.55 |
protein_coding |
synonymous_variant |
LOW |
1479T>C |
Ala493Ala |
M0048001 |
BNLHKGKM_00007 |
9668 |
42 |
Skin |
0.32 |
protein_coding |
missense_variant |
MODERATE |
337C>G |
Pro113Ala |
M0048002 |
BNLHKGKM_00009 |
10779 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1128A>C |
Gly376Gly |
M0048003 |
BNLHKGKM_00009 |
10821 |
12 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1086T>C |
Asn362Asn |
M0048004 |
BNLHKGKM_00009 |
11007 |
13 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
900G>C |
Gly300Gly |
M0048005 |
BNLHKGKM_00009 |
11055 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
852G>T |
Arg284Arg |
M0048006 |
BNLHKGKM_00009 |
11454 |
13 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
453C>T |
Phe151Phe |
M0048007 |
BNLHKGKM_00009 |
11568 |
14 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
339A>G |
Lys113Lys |
M0048008 |
BNLHKGKM_00009 |
11577 |
14 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
330A>G |
Glu110Glu |
M0048009 |
BNLHKGKM_00009 |
11718 |
32 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
189G>A |
Ala63Ala |
M0048010 |
BNLHKGKM_00009 |
11778 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
129C>A |
Val43Val |
M0048011 |
BNLHKGKM_00009 |
11883 |
10 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
24T>C |
Val8Val |
M0048012 |
BNLHKGKM_00007 |
14104 |
12 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4100C>T |
None |
M0048013 |
BNLHKGKM_00007 |
14163 |
11 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4159T>G |
None |
M0048014 |
BNLHKGKM_00007 |
14183 |
11 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4179A>G |
None |
M0048015 |
BNLHKGKM_00007 |
14201 |
11 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4197T>C |
None |
M0048016 |
BNLHKGKM_00004 |
5407 |
12 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1642A>G |
Lys548Glu |
M0048017 |
BNLHKGKM_00004 |
5411 |
12 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1638T>C |
Ile546Ile |
M0048018 |
BNLHKGKM_00004 |
5453 |
14 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1596T>C |
Arg532Arg |
M0048019 |
BNLHKGKM_00004 |
5825 |
40 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
1224C>T |
Leu408Leu |
M0048020 |
BNLHKGKM_00004 |
5837 |
40 |
Skin |
0.30 |
protein_coding |
synonymous_variant |
LOW |
1212C>T |
Gly404Gly |
M0048021 |
BNLHKGKM_00010 |
11950 |
9 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
490A>G |
Lys164Glu |
M0048022 |
BNLHKGKM_00010 |
11960 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
480A>G |
Leu160Leu |
M0048023 |
BNLHKGKM_00010 |
11968 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
472C>T |
Leu158Leu |
M0048024 |
BNLHKGKM_00010 |
12083 |
16 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
357G>A |
Glu119Glu |
M0048025 |
BNLHKGKM_00010 |
12092 |
16 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
348G>A |
Lys116Lys |
M0048026 |
BNLHKGKM_00010 |
12107 |
16 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
333T>C |
Val111Val |
M0048027 |
BNLHKGKM_00012 |
14641 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
660A>G |
Thr220Thr |
M0048028 |
BNLHKGKM_00012 |
14656 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
645T>C |
Tyr215Tyr |
M0048029 |
BNLHKGKM_00012 |
15048 |
12 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
253T>C |
Tyr85His |
M0048030 |
BNLHKGKM_00012 |
15064 |
12 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
237A>G |
Gln79Gln |
M0048031 |
BNLHKGKM_00012 |
15165 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
136A>C |
Ile46Leu |
M0048032 |
BNLHKGKM_00017 |
20181 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
570C>T |
Gly190Gly |
M0048033 |
BNLHKGKM_00017 |
20184 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
567C>T |
Ile189Ile |
M0048034 |
BNLHKGKM_00013 |
20850 |
9 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4694G>A |
None |
M0048035 |
BNLHKGKM_00013 |
20870 |
9 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4714C>T |
None |
M0048036 |
BNLHKGKM_00004 |
5506 |
19 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
1543G>A |
Ala515Thr |
M0048037 |
BNLHKGKM_00004 |
5537 |
19 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
1512C>G |
Asp504Glu |
M0048038 |
BNLHKGKM_00004 |
5561 |
14 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1488A>T |
Pro496Pro |
M0048039 |
BNLHKGKM_00004 |
5564 |
14 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1485A>G |
Leu495Leu |
M0048040 |
BNLHKGKM_00004 |
5582 |
13 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1467T>C |
Ile489Ile |
M0048041 |
BNLHKGKM_00007 |
8847 |
16 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1158A>G |
Pro386Pro |
M0048042 |
BNLHKGKM_00007 |
8859 |
16 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1146T>C |
Ala382Ala |
M0048043 |
BNLHKGKM_00015 |
17057 |
12 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
612G>A |
Val204Val |
M0048044 |
BNLHKGKM_00017 |
20634 |
12 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
117C>G |
Gly39Gly |
M0048045 |
BNLHKGKM_00017 |
20655 |
12 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
96G>A |
Ala32Ala |
M0048046 |
BNLHKGKM_00014 |
21788 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4940G>C |
None |
M0048047 |
BNLHKGKM_00007 |
8580 |
20 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1425T>C |
Thr475Thr |
M0048048 |
BNLHKGKM_00007 |
8583 |
20 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
1422C>A |
Pro474Pro |
M0048049 |
BNLHKGKM_00007 |
8619 |
21 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1386T>C |
Ser462Ser |
M0048050 |
BNLHKGKM_00007 |
8630 |
21 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1375G>C |
Val459Leu |
M0048051 |
BNLHKGKM_00008 |
10381 |
17 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
43T>G |
Ser15Ala |
M0048052 |
BNLHKGKM_00011 |
13864 |
15 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
156C>A |
Gly52Gly |
M0048053 |
BNLHKGKM_00011 |
13879 |
13 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
141A>G |
Leu47Leu |
M0048054 |
BNLHKGKM_00012 |
14742 |
13 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
559C>G |
Pro187Ala |
M0048055 |
BNLHKGKM_00012 |
14767 |
13 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
534T>C |
Val178Val |
M0048056 |
BNLHKGKM_00008 |
15393 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4970C>A |
None |
M0048057 |
BNLHKGKM_00008 |
15399 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4976G>T |
None |
M0048058 |
BNLHKGKM_00016 |
18310 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
147C>T |
Phe49Phe |
M0048059 |
BNLHKGKM_00017 |
19491 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1260C>T |
Phe420Phe |
M0048060 |
BNLHKGKM_00017 |
19532 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1219C>T |
Leu407Leu |
M0048061 |
BNLHKGKM_00017 |
19547 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1204T>C |
Leu402Leu |
M0048062 |
BNLHKGKM_00017 |
19632 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1119C>T |
His373His |
M0048063 |
BNLHKGKM_00017 |
20055 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
696G>A |
Val232Val |
M0048064 |
BNLHKGKM_00015 |
22398 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4730G>A |
None |
M0048065 |
BNLHKGKM_00015 |
22431 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4763A>G |
None |
M0048066 |
BNLHKGKM_00007 |
8376 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1629G>A |
Leu543Leu |
M0048067 |
BNLHKGKM_00007 |
8390 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1615G>T |
Ala539Ser |
M0048068 |
BNLHKGKM_00007 |
8394 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1611A>G |
Glu537Glu |
M0048069 |
BNLHKGKM_00007 |
8397 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1608T>C |
Ser536Ser |
M0048070 |
BNLHKGKM_00007 |
8399 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1606A>G |
Ser536Gly |
M0048071 |
BNLHKGKM_00007 |
8406 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1599A>G |
Pro533Pro |
M0048072 |
BNLHKGKM_00007 |
8407 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1598C>A |
Pro533Gln |
M0048073 |
BNLHKGKM_00007 |
8409 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1596C>T |
Arg532Arg |
M0048074 |
BNLHKGKM_00007 |
8412 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1593G>C |
Glu531Asp |
M0048075 |
BNLHKGKM_00007 |
8418 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1587C>T |
Ala529Ala |
M0048076 |
BNLHKGKM_00007 |
8420 |
11 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1585G>A |
Ala529Thr |
M0048077 |
BNLHKGKM_00007 |
8427 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1578C>G |
Gly526Gly |
M0048078 |
BNLHKGKM_00007 |
8469 |
13 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1536A>C |
Gln512His |
M0048079 |
BNLHKGKM_00007 |
8798 |
13 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
1207T>C |
Leu403Leu |
M0048080 |
BNLHKGKM_00008 |
10058 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
366T>C |
Phe122Phe |
M0048081 |
BNLHKGKM_00012 |
14431 |
12 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
870T>G |
Phe290Leu |
M0048082 |
BNLHKGKM_00013 |
15614 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
543A>G |
Glu181Glu |
M0048083 |
BNLHKGKM_00004 |
6755 |
22 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
294G>T |
Pro98Pro |
M0048084 |
BNLHKGKM_00002 |
3460 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
816G>A |
Lys272Lys |
M0048085 |
BNLHKGKM_00002 |
3466 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
810A>G |
Glu270Glu |
M0048086 |
BNLHKGKM_00002 |
3486 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
790C>T |
Leu264Leu |
M0048087 |
BNLHKGKM_00002 |
3487 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
789T>C |
Arg263Arg |
M0048088 |
BNLHKGKM_00002 |
3517 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
759C>T |
Gly253Gly |
M0048089 |
BNLHKGKM_00002 |
3568 |
10 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
708A>G |
Ala236Ala |
M0048090 |
BNLHKGKM_00007 |
8954 |
10 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1051A>T |
Ile351Leu |
M0048091 |
BNLHKGKM_00007 |
8956 |
10 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1049A>G |
Asn350Ser |
M0048092 |
BNLHKGKM_00007 |
9297 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
708A>G |
Val236Val |
M0048093 |
BNLHKGKM_00007 |
9309 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
696A>G |
Ala232Ala |
M0048094 |
BNLHKGKM_00007 |
9399 |
13 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
606G>A |
Glu202Glu |
M0048095 |
BNLHKGKM_00007 |
9426 |
13 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
579A>C |
Thr193Thr |
M0048096 |
BNLHKGKM_00007 |
9432 |
13 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
573T>C |
Asp191Asp |
M0048097 |
BNLHKGKM_00007 |
9444 |
13 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
561C>T |
Cys187Cys |
M0048098 |
BNLHKGKM_00007 |
9447 |
13 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
558A>G |
Arg186Arg |
M0048099 |
BNLHKGKM_00007 |
9448 |
13 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
557G>A |
Arg186Gln |
M0048100 |
BNLHKGKM_00007 |
9449 |
13 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
556C>A |
Arg186Arg |
M0048101 |
BNLHKGKM_00007 |
9450 |
13 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
555G>A |
Glu185Glu |
M0048102 |
BNLHKGKM_00007 |
9456 |
13 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
549C>G |
Val183Val |
M0048103 |
BNLHKGKM_00007 |
9465 |
13 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
540C>T |
Asn180Asn |
M0048104 |
BNLHKGKM_00007 |
9477 |
13 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
528C>T |
Asn176Asn |
M0048105 |
BNLHKGKM_00007 |
9501 |
14 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
504T>C |
Gly168Gly |
M0048106 |
BNLHKGKM_00008 |
10196 |
10 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
228G>A |
Glu76Glu |
M0048107 |
BNLHKGKM_00011 |
12731 |
12 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1289G>A |
Arg430His |
M0048108 |
BNLHKGKM_00011 |
13726 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
294C>T |
Val98Val |
M0048109 |
BNLHKGKM_00012 |
14991 |
9 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
310G>T |
Val104Leu |
M0048110 |
BNLHKGKM_00011 |
13684 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
336G>C |
Pro112Pro |
M0048111 |
BNLHKGKM_00013 |
15449 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
708T>C |
Phe236Phe |
M0048112 |
BNLHKGKM_00013 |
15569 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
588C>A |
Thr196Thr |
M0048113 |
BNLHKGKM_00016 |
18367 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
90C>T |
Ala30Ala |
M0048114 |
BNLHKGKM_00002 |
2200 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2076A>G |
Gln692Gln |
M0048115 |
BNLHKGKM_00002 |
2386 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1890C>T |
Thr630Thr |
M0048116 |
BNLHKGKM_00002 |
2428 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1848T>C |
Leu616Leu |
M0048117 |
BNLHKGKM_00002 |
2578 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1698G>A |
Leu566Leu |
M0048118 |
BNLHKGKM_00002 |
2589 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1687G>T |
Ala563Ser |
M0048119 |
BNLHKGKM_00002 |
2623 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1653A>G |
Leu551Leu |
M0048120 |
BNLHKGKM_00002 |
2659 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1617A>G |
Val539Val |
M0048121 |
BNLHKGKM_00002 |
2665 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1611C>T |
Ala537Ala |
M0048122 |
BNLHKGKM_00002 |
2731 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1545A>C |
Ala515Ala |
M0048123 |
BNLHKGKM_00002 |
2742 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1534A>G |
Thr512Ala |
M0048124 |
BNLHKGKM_00002 |
2746 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1530G>A |
Leu510Leu |
M0048125 |
BNLHKGKM_00002 |
2754 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1522G>T |
Ala508Ser |
M0048126 |
BNLHKGKM_00002 |
2776 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1500G>C |
Ala500Ala |
M0048127 |
BNLHKGKM_00002 |
3040 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1236T>C |
Ala412Ala |
M0048128 |
BNLHKGKM_00002 |
3862 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
414C>T |
Asp138Asp |
M0048129 |
BNLHKGKM_00009 |
11343 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
564G>C |
Pro188Pro |
M0048130 |
BNLHKGKM_00009 |
11349 |
8 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
558T>C |
His186His |
M0048131 |
BNLHKGKM_00009 |
11400 |
6 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
507G>C |
Ala169Ala |
M0048132 |
BNLHKGKM_00012 |
14829 |
8 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
472G>C |
Glu158Gln |
M0048133 |
BNLHKGKM_00007 |
9951 |
14 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
54G>A |
Thr18Thr |
M0048134 |
BNLHKGKM_00007 |
9537 |
15 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
468T>G |
His156Gln |
M0048135 |
BNLHKGKM_00009 |
11277 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
630G>A |
Lys210Lys |
M0048136 |
BNLHKGKM_00009 |
11280 |
9 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
627G>C |
Leu209Leu |
M0048137 |
BNLHKGKM_00002 |
2341 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1935C>T |
Arg645Arg |
M0048138 |
BNLHKGKM_00002 |
2479 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1797T>C |
Gly599Gly |
M0048139 |
BNLHKGKM_00004 |
6827 |
15 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
222A>G |
Leu74Leu |
M0048140 |
BNLHKGKM_00004 |
6866 |
18 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
183C>T |
Asp61Asp |
M0048141 |
BNLHKGKM_00008 |
10346 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
78G>A |
Ala26Ala |
M0048142 |
BNLHKGKM_00008 |
10385 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
39T>C |
Gly13Gly |
M0048143 |
BNLHKGKM_00003 |
4389 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
906G>A |
Glu302Glu |
M0048144 |
BNLHKGKM_00002 |
2095 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2181G>T |
Arg727Ser |
M0048145 |
BNLHKGKM_00015 |
22516 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4848A>G |
None |
M0048146 |
BNLHKGKM_00010 |
12038 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
402T>C |
Ala134Ala |
M0048147 |
BNLHKGKM_00007 |
9012 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
993C>T |
Ala331Ala |
M0048148 |
BNLHKGKM_00007 |
9579 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
426T>G |
Val142Val |
M0048149 |
BNLHKGKM_00007 |
9581 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
424G>C |
Val142Leu |
M0048150 |
BNLHKGKM_00007 |
9585 |
5 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
420G>C |
Leu140Phe |
M0048151 |
BNLHKGKM_00007 |
9588 |
5 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
417A>G |
Pro139Pro |
M0048152 |
BNLHKGKM_00006 |
7849 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
240A>G |
Gly80Gly |
M0048153 |
BNLHKGKM_00006 |
7852 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
237A>G |
Ala79Ala |
M0048154 |
BNLHKGKM_00006 |
7861 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
228A>G |
Glu76Glu |
M0048155 |
BNLHKGKM_00006 |
7863 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
226G>A |
Glu76Lys |
M0048156 |
BNLHKGKM_00006 |
7864 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
225T>C |
Pro75Pro |
M0048157 |
BNLHKGKM_00006 |
7874 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
215G>A |
Ser72Asn |
M0048158 |
BNLHKGKM_00006 |
7875 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
214A>G |
Ser72Gly |
M0048159 |
BNLHKGKM_00006 |
7885 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
204C>A |
Ser68Ser |
M0048160 |
BNLHKGKM_00006 |
7887 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
202T>A |
Ser68Thr |
M0048161 |
BNLHKGKM_00006 |
7888 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
201C>T |
Tyr67Tyr |
M0048162 |
BNLHKGKM_00006 |
7894 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
195T>G |
Pro65Pro |
M0048163 |
BNLHKGKM_00006 |
7899 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
190A>G |
Ile64Val |
M0048164 |
BNLHKGKM_00006 |
7929 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
160G>A |
Gly54Arg |
M0048165 |
BNLHKGKM_00006 |
7932 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
157A>C |
Arg53Arg |
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 |
BNLHKGKM_00002 |
VFG041020 |
HSI-2 |
78.9 |
0 |
1 |
863 |
1.0 |
0.984 |
Effector delivery system |
type VI secretion system ATPase TssH |
experiment |
BNLHKGKM_00003 |
VFG041019 |
HSI-2 |
79.7 |
1.6e-157 |
1 |
335 |
1.0 |
1 |
Effector delivery system |
type VI secretion system baseplate subunit TssG |
experiment |
BNLHKGKM_00004 |
VFG041018 |
HSI-2 |
74.6 |
8.3e-242 |
70 |
596 |
0.8842 |
1.0019 |
Effector delivery system |
type VI secretion system baseplate subunit TssF |
experiment |
BNLHKGKM_00008 |
VFG041017 |
HSI-2 |
82.8 |
1.1e-56 |
1 |
134 |
0.9926 |
0.9926 |
Effector delivery system |
type VI secretion system baseplate subunit TssE |
experiment |
BNLHKGKM_00009 |
VFG041016 |
HSI-2 |
86.8 |
3.4e-257 |
1 |
492 |
1.0 |
1.002 |
Effector delivery system |
type VI secretion system contractile sheath large subunit |
experiment |
BNLHKGKM_00010 |
VFG041015 |
HSI-2 |
82.7 |
4.2e-74 |
1 |
168 |
1.0 |
1 |
Effector delivery system |
type VI secretion system contractile sheath small subunit |
experiment |
BNLHKGKM_00002 |
VFG051556 |
HSI-2 |
77.3 |
0 |
1 |
863 |
1.0 |
0.9751 |
Effector delivery system |
type VI secretion system ATPase TssH |
prediction |
BNLHKGKM_00003 |
VFG051543 |
HSI-2 |
80 |
7e-157 |
1 |
335 |
1.0 |
1 |
Effector delivery system |
type VI secretion system baseplate subunit TssG |
prediction |
BNLHKGKM_00004 |
VFG051540 |
HSI-2 |
78 |
2.7e-284 |
1 |
596 |
1.0 |
1.0017 |
Effector delivery system |
type VI secretion system baseplate subunit TssF |
prediction |
BNLHKGKM_00008 |
VFG041017 |
HSI-2 |
82.8 |
8.1e-56 |
1 |
134 |
0.9926 |
0.9926 |
Effector delivery system |
type VI secretion system baseplate subunit TssE |
prediction |
BNLHKGKM_00009 |
VFG051523 |
HSI-2 |
89 |
6.9e-262 |
4 |
492 |
0.9939 |
0.998 |
Effector delivery system |
type VI secretion system contractile sheath large subunit |
prediction |
BNLHKGKM_00010 |
VFG041015 |
HSI-2 |
82.7 |
3.1e-73 |
1 |
168 |
1.0 |
1 |
Effector delivery system |
type VI secretion system contractile sheath small subunit |
prediction |
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 |
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 |
BNLHKGKM_00014 |
3.A.1.3.23 |
71.6 |
8e-91 |
1 |
229 |
0.9913 |
0.8911 |
3 |
Primary Active Transporters |
3.A |
P-P-bond-hydrolysis-driven transporters |
3.A.1 |
The ATP-binding Cassette (ABC) Superfamily |
BNLHKGKM_00015 |
3.A.1.3.23 |
81.3 |
4.6e-116 |
1 |
251 |
1.0000 |
0.9728 |
3 |
Primary Active Transporters |
3.A |
P-P-bond-hydrolysis-driven transporters |
3.A.1 |
The ATP-binding Cassette (ABC) Superfamily |
BNLHKGKM_00016 |
3.A.1.3.23 |
89.1 |
4.8e-129 |
1 |
257 |
1.0000 |
1.0000 |
3 |
Primary Active Transporters |
3.A |
P-P-bond-hydrolysis-driven transporters |
3.A.1 |
The ATP-binding Cassette (ABC) Superfamily |