Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C2797 |
Reference Plasmid |
DP1806001274_bin.2__NODE_51_length_10572_cov_10.790222 |
Reference Plasmid Size |
10572 |
Reference Plasmid GC Content |
0.61 |
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 |
M0060121 |
CFLCIGPH_00003 |
2732 |
22 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
34G>T |
Ala12Ser |
M0060122 |
CFLCIGPH_00005 |
3744 |
22 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
291C>T |
Val97Val |
M0060123 |
CFLCIGPH_00005 |
4299 |
96 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
846T>C |
Arg282Arg |
M0060124 |
CFLCIGPH_00005 |
4416 |
33 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
963G>C |
Pro321Pro |
M0060125 |
CFLCIGPH_00006 |
5087 |
36 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
96G>C |
Pro32Pro |
M0060126 |
CFLCIGPH_00005 |
3801 |
42 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
348T>C |
Ile116Ile |
M0060127 |
CFLCIGPH_00005 |
3816 |
42 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
363C>T |
Val121Val |
M0060128 |
CFLCIGPH_00005 |
3822 |
42 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
369G>A |
Ser123Ser |
M0060129 |
CFLCIGPH_00005 |
3838 |
44 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
385G>A |
Val129Ile |
M0060130 |
CFLCIGPH_00005 |
4143 |
20 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
690C>A |
Val230Val |
M0060131 |
CFLCIGPH_00005 |
4203 |
21 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
750C>T |
Asn250Asn |
M0060132 |
CFLCIGPH_00005 |
4239 |
21 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
786T>C |
Phe262Phe |
M0060133 |
CFLCIGPH_00005 |
4308 |
28 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
855C>A |
Pro285Pro |
M0060134 |
CFLCIGPH_00005 |
4332 |
28 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
879C>T |
Thr293Thr |
M0060135 |
CFLCIGPH_00005 |
4342 |
28 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
889G>A |
Ala297Thr |
M0060136 |
CFLCIGPH_00003 |
3025 |
13 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-260C>A |
None |
M0060137 |
CFLCIGPH_00003 |
3056 |
13 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-291A>G |
None |
M0060138 |
CFLCIGPH_00004 |
3171 |
14 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
13G>A |
Val5Ile |
M0060139 |
CFLCIGPH_00004 |
3183 |
14 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
25G>A |
Ala9Thr |
M0060140 |
CFLCIGPH_00004 |
3198 |
14 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
40G>A |
Val14Met |
M0060141 |
CFLCIGPH_00004 |
3220 |
14 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
62A>G |
Asp21Gly |
M0060142 |
CFLCIGPH_00004 |
3231 |
14 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
73T>C |
Tyr25His |
M0060143 |
CFLCIGPH_00004 |
3237 |
14 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
79A>G |
Lys27Glu |
M0060144 |
CFLCIGPH_00004 |
3242 |
14 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
84C>T |
Ser28Ser |
M0060145 |
CFLCIGPH_00004 |
3248 |
14 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
90T>C |
Gly30Gly |
M0060146 |
CFLCIGPH_00004 |
3264 |
18 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
106A>G |
Thr36Ala |
M0060147 |
CFLCIGPH_00004 |
3294 |
14 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
136G>A |
Asp46Asn |
M0060148 |
CFLCIGPH_00004 |
3296 |
15 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
138T>C |
Asp46Asp |
M0060149 |
CFLCIGPH_00004 |
3314 |
15 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
156T>C |
Val52Val |
M0060150 |
CFLCIGPH_00004 |
3323 |
14 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
165C>T |
Ile55Ile |
M0060151 |
CFLCIGPH_00004 |
3327 |
14 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
169A>G |
Thr57Ala |
M0060152 |
CFLCIGPH_00004 |
3384 |
15 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
226G>A |
Ala76Thr |
M0060153 |
CFLCIGPH_00004 |
3394 |
15 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
236G>T |
Cys79Phe |
M0060154 |
CFLCIGPH_00004 |
3440 |
16 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
282G>C |
Ser94Ser |
M0060155 |
CFLCIGPH_00005 |
3465 |
16 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
12T>C |
Thr4Thr |
M0060156 |
CFLCIGPH_00005 |
3528 |
13 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
75G>A |
Leu25Leu |
M0060157 |
CFLCIGPH_00005 |
3693 |
15 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
240A>T |
Ala80Ala |
M0060158 |
CFLCIGPH_00005 |
3726 |
16 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
273C>T |
Gly91Gly |
M0060159 |
CFLCIGPH_00005 |
4273 |
13 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
820C>T |
Pro274Ser |
M0060160 |
CFLCIGPH_00005 |
4562 |
8 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1109G>C |
Trp370Ser |
M0060161 |
CFLCIGPH_00005 |
4833 |
19 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1380A>G |
Lys460Lys |
M0060162 |
CFLCIGPH_00006 |
5003 |
40 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
12C>T |
Phe4Phe |
M0060163 |
CFLCIGPH_00004 |
2365 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-794T>C |
None |
M0060164 |
CFLCIGPH_00004 |
2503 |
4 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-656C>T |
None |
M0060165 |
CFLCIGPH_00004 |
3389 |
8 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
231A>C |
Gln77His |
M0060166 |
CFLCIGPH_00004 |
3401 |
8 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
243A>C |
Gln81His |
M0060167 |
CFLCIGPH_00005 |
3564 |
10 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
111C>T |
Thr37Thr |
M0060168 |
CFLCIGPH_00005 |
3566 |
4 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
113T>C |
Val38Ala |
M0060169 |
CFLCIGPH_00010 |
8818 |
151 |
Skin |
0.51 |
protein_coding |
missense_variant |
MODERATE |
173T>C |
Leu58Pro |
M0060170 |
CFLCIGPH_00006 |
5166 |
37 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
175C>A |
Leu59Ile |
M0060171 |
CFLCIGPH_00006 |
5174 |
35 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
183G>A |
Met61Ile |
M0060172 |
CFLCIGPH_00006 |
5202 |
38 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
211A>G |
Ser71Gly |
M0060173 |
CFLCIGPH_00005 |
4020 |
11 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
567A>C |
Ala189Ala |
M0060174 |
CFLCIGPH_00005 |
4656 |
10 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1203C>A |
Gly401Gly |
M0060175 |
CFLCIGPH_00005 |
4755 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1302A>G |
Glu434Glu |
M0060176 |
CFLCIGPH_00006 |
5270 |
44 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
279C>T |
Gly93Gly |
M0060177 |
CFLCIGPH_00007 |
5625 |
35 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
198C>T |
Tyr66Tyr |
M0060178 |
CFLCIGPH_00007 |
5658 |
37 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
231G>A |
Ser77Ser |
M0060179 |
CFLCIGPH_00007 |
6377 |
31 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
950G>A |
Gly317Asp |
M0060180 |
CFLCIGPH_00003 |
6482 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3717G>A |
None |
M0060181 |
CFLCIGPH_00003 |
6498 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3733G>A |
None |
M0060182 |
CFLCIGPH_00003 |
6513 |
23 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3748T>G |
None |
M0060183 |
CFLCIGPH_00003 |
6531 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3766A>G |
None |
M0060184 |
CFLCIGPH_00003 |
6539 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3774C>G |
None |
M0060185 |
CFLCIGPH_00003 |
6540 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3775T>C |
None |
M0060186 |
CFLCIGPH_00003 |
6561 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3796C>T |
None |
M0060187 |
CFLCIGPH_00008 |
6567 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
617C>T |
Ala206Val |
M0060188 |
CFLCIGPH_00008 |
6568 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
616G>A |
Ala206Thr |
M0060189 |
CFLCIGPH_00008 |
6577 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
607C>A |
Leu203Ile |
M0060190 |
CFLCIGPH_00008 |
6578 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
606C>T |
Asp202Asp |
M0060191 |
CFLCIGPH_00008 |
6584 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
600G>T |
Leu200Phe |
M0060192 |
CFLCIGPH_00008 |
6599 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
585C>T |
Ile195Ile |
M0060193 |
CFLCIGPH_00008 |
6613 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
571A>G |
Asn191Asp |
M0060194 |
CFLCIGPH_00008 |
6616 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
568C>A |
Gln190Lys |
M0060195 |
CFLCIGPH_00008 |
6650 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
534C>T |
Ala178Ala |
M0060196 |
CFLCIGPH_00008 |
6676 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
508C>A |
Leu170Met |
M0060197 |
CFLCIGPH_00008 |
6693 |
29 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
491G>A |
Ser164Asn |
M0060198 |
CFLCIGPH_00008 |
6730 |
29 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
454A>G |
Ile152Val |
M0060199 |
CFLCIGPH_00008 |
6758 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
426C>T |
Asn142Asn |
M0060200 |
CFLCIGPH_00008 |
6764 |
29 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
420G>A |
Val140Val |
M0060201 |
CFLCIGPH_00008 |
6774 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
410C>T |
Thr137Met |
M0060202 |
CFLCIGPH_00008 |
6783 |
29 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
401C>T |
Ala134Val |
M0060203 |
CFLCIGPH_00008 |
6785 |
29 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
399T>G |
Ser133Ser |
M0060204 |
CFLCIGPH_00008 |
6787 |
29 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
397T>A |
Ser133Thr |
M0060205 |
CFLCIGPH_00008 |
6800 |
47 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
384A>C |
Lys128Asn |
M0060206 |
CFLCIGPH_00008 |
6899 |
28 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
285C>A |
Asp95Glu |
M0060207 |
CFLCIGPH_00008 |
6902 |
28 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
282T>C |
Ala94Ala |
M0060208 |
CFLCIGPH_00008 |
6903 |
28 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
281C>T |
Ala94Val |
M0060209 |
CFLCIGPH_00008 |
6907 |
28 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
277G>C |
Glu93Gln |
M0060210 |
CFLCIGPH_00008 |
6963 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
221A>G |
Glu74Gly |
M0060211 |
CFLCIGPH_00008 |
6993 |
28 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
191C>G |
Ala64Gly |
M0060212 |
CFLCIGPH_00008 |
7025 |
28 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
159T>C |
Val53Val |
M0060213 |
CFLCIGPH_00009 |
7535 |
63 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
202T>G |
Trp68Gly |
M0060214 |
CFLCIGPH_00009 |
7567 |
97 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
234G>A |
Thr78Thr |
M0060215 |
CFLCIGPH_00005 |
4120 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
667C>T |
Pro223Ser |
M0060216 |
CFLCIGPH_00007 |
6241 |
55 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
814G>C |
Ala272Pro |
M0060217 |
CFLCIGPH_00007 |
6367 |
13 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
940G>A |
Gly314Arg |
M0060218 |
CFLCIGPH_00008 |
6671 |
11 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
513C>T |
Ala171Ala |
M0060219 |
CFLCIGPH_00007 |
5715 |
12 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
288G>A |
Leu96Leu |
M0060220 |
CFLCIGPH_00008 |
6589 |
57 |
Skin |
0.19 |
protein_coding |
stop_gained |
HIGH |
595A>T |
Lys199* |
M0060221 |
CFLCIGPH_00009 |
7666 |
101 |
Skin |
0.34 |
protein_coding |
synonymous_variant |
LOW |
333A>G |
Ala111Ala |
M0060222 |
CFLCIGPH_00009 |
8469 |
87 |
Skin |
0.30 |
protein_coding |
missense_variant |
MODERATE |
1136G>A |
Arg379Lys |
M0060223 |
CFLCIGPH_00011 |
9435 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
24T>C |
Phe8Phe |
M0060224 |
CFLCIGPH_00005 |
3681 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
228C>T |
Cys76Cys |
M0060225 |
CFLCIGPH_00007 |
5565 |
35 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
138C>T |
Val46Val |
M0060226 |
CFLCIGPH_00007 |
5874 |
33 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
447C>T |
Asp149Asp |
M0060227 |
CFLCIGPH_00007 |
5881 |
33 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
454T>C |
Leu152Leu |
M0060228 |
CFLCIGPH_00005 |
4131 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
678T>C |
Gly226Gly |
M0060229 |
CFLCIGPH_00007 |
5478 |
33 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
51C>T |
Arg17Arg |
M0060230 |
CFLCIGPH_00007 |
5494 |
33 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
67T>C |
Tyr23His |
M0060231 |
CFLCIGPH_00007 |
5525 |
32 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
98C>A |
Pro33His |
M0060232 |
CFLCIGPH_00007 |
5526 |
32 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
99C>A |
Pro33Pro |
M0060233 |
CFLCIGPH_00010 |
8861 |
62 |
Skin |
0.21 |
protein_coding |
synonymous_variant |
LOW |
216G>C |
Ser72Ser |
M0060234 |
CFLCIGPH_00011 |
9660 |
18 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
249A>G |
Arg83Arg |
M0060235 |
CFLCIGPH_00007 |
5971 |
21 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
544C>T |
Leu182Leu |
M0060236 |
CFLCIGPH_00007 |
6032 |
25 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
605A>G |
Lys202Arg |
M0060237 |
CFLCIGPH_00007 |
6060 |
25 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
633C>T |
Thr211Thr |
M0060238 |
CFLCIGPH_00007 |
6222 |
32 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
795G>A |
Gly265Gly |
M0060239 |
CFLCIGPH_00007 |
6291 |
30 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
864G>A |
Val288Val |
M0060240 |
CFLCIGPH_00009 |
7375 |
29 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
42T>C |
Ala14Ala |
M0060241 |
CFLCIGPH_00009 |
7455 |
30 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
122G>A |
Arg41His |
M0060242 |
CFLCIGPH_00009 |
7456 |
30 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
123C>T |
Arg41Arg |
M0060243 |
CFLCIGPH_00009 |
7471 |
30 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
138T>C |
Asn46Asn |
M0060244 |
CFLCIGPH_00009 |
7499 |
30 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
166G>A |
Val56Ile |
M0060245 |
CFLCIGPH_00009 |
7504 |
30 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
171C>T |
Ala57Ala |
M0060246 |
CFLCIGPH_00009 |
7505 |
30 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
172G>A |
Ala58Thr |
M0060247 |
CFLCIGPH_00009 |
7520 |
30 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
187A>G |
Met63Val |
M0060248 |
CFLCIGPH_00009 |
7531 |
30 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
198G>C |
Pro66Pro |
M0060249 |
CFLCIGPH_00009 |
7561 |
30 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
228A>G |
Pro76Pro |
M0060250 |
CFLCIGPH_00009 |
7600 |
30 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
267C>A |
Val89Val |
M0060251 |
CFLCIGPH_00009 |
7627 |
30 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
294C>T |
Leu98Leu |
M0060252 |
CFLCIGPH_00009 |
7670 |
29 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
337T>C |
Ser113Pro |
M0060253 |
CFLCIGPH_00009 |
7672 |
29 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
339A>G |
Ser113Ser |
M0060254 |
CFLCIGPH_00009 |
7679 |
29 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
346G>A |
Ala116Thr |
M0060255 |
CFLCIGPH_00009 |
7687 |
29 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
354A>G |
Ala118Ala |
M0060256 |
CFLCIGPH_00009 |
7705 |
29 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
372C>T |
Thr124Thr |
M0060257 |
CFLCIGPH_00009 |
7714 |
29 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
381G>A |
Val127Val |
M0060258 |
CFLCIGPH_00009 |
7718 |
30 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
385A>G |
Ile129Val |
M0060259 |
CFLCIGPH_00009 |
7720 |
29 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
387T>C |
Ile129Ile |
M0060260 |
CFLCIGPH_00009 |
7744 |
29 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
411A>G |
Lys137Lys |
M0060261 |
CFLCIGPH_00009 |
7793 |
28 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
460G>A |
Ala154Thr |
M0060262 |
CFLCIGPH_00009 |
7801 |
28 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
468C>T |
Asp156Asp |
M0060263 |
CFLCIGPH_00009 |
7807 |
28 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
474A>G |
Thr158Thr |
M0060264 |
CFLCIGPH_00009 |
7884 |
27 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
551C>G |
Thr184Ser |
M0060265 |
CFLCIGPH_00009 |
7892 |
27 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
559G>A |
Ala187Thr |
M0060266 |
CFLCIGPH_00009 |
7894 |
28 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
561G>C |
Ala187Ala |
M0060267 |
CFLCIGPH_00009 |
7897 |
27 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
564G>A |
Thr188Thr |
M0060268 |
CFLCIGPH_00009 |
7915 |
27 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
582G>A |
Glu194Glu |
M0060269 |
CFLCIGPH_00009 |
7958 |
27 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
625C>T |
Leu209Leu |
M0060270 |
CFLCIGPH_00009 |
7969 |
27 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
636T>C |
Arg212Arg |
M0060271 |
CFLCIGPH_00009 |
7972 |
28 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
639A>G |
Glu213Glu |
M0060272 |
CFLCIGPH_00009 |
7990 |
28 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
657T>C |
Ala219Ala |
M0060273 |
CFLCIGPH_00010 |
8696 |
21 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
51G>A |
Arg17Arg |
M0060274 |
CFLCIGPH_00010 |
8702 |
21 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
57G>A |
Val19Val |
M0060275 |
CFLCIGPH_00010 |
8816 |
16 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
171G>A |
Met57Ile |
M0060276 |
CFLCIGPH_00010 |
8837 |
17 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
192A>G |
Glu64Glu |
M0060277 |
CFLCIGPH_00010 |
8840 |
16 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
195A>G |
Ala65Ala |
M0060278 |
CFLCIGPH_00010 |
8867 |
16 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
222T>C |
Ser74Ser |
M0060279 |
CFLCIGPH_00010 |
8870 |
16 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
225A>G |
Ser75Ser |
M0060280 |
CFLCIGPH_00010 |
8901 |
16 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
256G>A |
Ala86Thr |
M0060281 |
CFLCIGPH_00010 |
8906 |
16 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
261C>T |
Asp87Asp |
M0060282 |
CFLCIGPH_00010 |
8924 |
16 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
279G>A |
Ala93Ala |
M0060283 |
CFLCIGPH_00010 |
8925 |
16 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
280G>A |
Val94Ile |
M0060284 |
CFLCIGPH_00010 |
8941 |
17 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
296C>T |
Ser99Leu |
M0060285 |
CFLCIGPH_00010 |
8972 |
16 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
327T>G |
Asp109Glu |
M0060286 |
CFLCIGPH_00010 |
8983 |
16 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
338A>G |
Asn113Ser |
M0060287 |
CFLCIGPH_00010 |
8998 |
16 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
353T>C |
Val118Ala |
M0060288 |
CFLCIGPH_00010 |
9003 |
16 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
358G>A |
Ala120Thr |
M0060289 |
CFLCIGPH_00010 |
9008 |
16 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
363G>A |
Gly121Gly |
M0060290 |
CFLCIGPH_00010 |
9047 |
16 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
402G>A |
Leu134Leu |
M0060291 |
CFLCIGPH_00010 |
9060 |
16 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
415G>A |
Gly139Ser |
M0060292 |
CFLCIGPH_00010 |
9066 |
16 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
421G>A |
Ala141Thr |
M0060293 |
CFLCIGPH_00010 |
9079 |
16 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
434T>G |
Val145Gly |
M0060294 |
CFLCIGPH_00010 |
9082 |
16 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
437G>A |
Arg146His |
M0060295 |
CFLCIGPH_00010 |
9084 |
16 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
439G>C |
Gly147Arg |
M0060296 |
CFLCIGPH_00010 |
9122 |
16 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
477G>C |
Arg159Arg |
M0060297 |
CFLCIGPH_00010 |
9173 |
16 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
528C>T |
Ile176Ile |
M0060298 |
CFLCIGPH_00010 |
9189 |
16 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
544G>A |
Val182Ile |
M0060299 |
CFLCIGPH_00010 |
9240 |
16 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
595G>A |
Asp199Asn |
M0060300 |
CFLCIGPH_00010 |
9263 |
16 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
618C>T |
Ile206Ile |
M0060301 |
CFLCIGPH_00008 |
9320 |
17 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2137C>T |
None |
M0060302 |
CFLCIGPH_00008 |
9329 |
17 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2146A>G |
None |
M0060303 |
CFLCIGPH_00008 |
9338 |
17 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2155C>T |
None |
M0060304 |
CFLCIGPH_00008 |
9346 |
17 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2163A>G |
None |
M0060305 |
CFLCIGPH_00008 |
9369 |
17 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2186A>G |
None |
M0060306 |
CFLCIGPH_00008 |
9385 |
17 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2202G>A |
None |
M0060307 |
CFLCIGPH_00008 |
9406 |
17 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2223C>T |
None |
M0060308 |
CFLCIGPH_00011 |
9427 |
17 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
16A>G |
Asn6Asp |
M0060309 |
CFLCIGPH_00011 |
9447 |
17 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
36A>G |
Glu12Glu |
M0060310 |
CFLCIGPH_00011 |
9513 |
16 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
102A>G |
Gly34Gly |
M0060311 |
CFLCIGPH_00011 |
9519 |
16 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
108C>A |
Gly36Gly |
M0060312 |
CFLCIGPH_00011 |
9525 |
16 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
114T>C |
Thr38Thr |
M0060313 |
CFLCIGPH_00011 |
9594 |
17 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
183C>T |
Pro61Pro |
M0060314 |
CFLCIGPH_00011 |
9613 |
17 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
202G>T |
Ala68Ser |
M0060315 |
CFLCIGPH_00011 |
9615 |
17 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
204A>G |
Ala68Ala |
M0060316 |
CFLCIGPH_00011 |
9624 |
17 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
213T>C |
Asp71Asp |
M0060317 |
CFLCIGPH_00011 |
9702 |
17 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
291G>A |
Leu97Leu |
M0060318 |
CFLCIGPH_00011 |
9703 |
18 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
292A>G |
Asn98Asp |
M0060319 |
CFLCIGPH_00011 |
9729 |
17 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
318G>A |
Glu106Glu |
M0060320 |
CFLCIGPH_00011 |
9772 |
23 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
361T>C |
Leu121Leu |
M0060321 |
CFLCIGPH_00011 |
9795 |
21 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
384C>G |
Ser128Ser |
M0060322 |
CFLCIGPH_00011 |
9816 |
21 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
405G>A |
Arg135Arg |
M0060323 |
CFLCIGPH_00011 |
9820 |
21 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
409C>T |
Leu137Leu |
M0060324 |
CFLCIGPH_00011 |
9823 |
22 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
412G>A |
Ala138Thr |
M0060325 |
CFLCIGPH_00011 |
9865 |
17 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
454G>A |
Val152Ile |
M0060326 |
CFLCIGPH_00011 |
9912 |
20 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
501C>T |
Ala167Ala |
M0060327 |
CFLCIGPH_00012 |
9953 |
20 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
559A>G |
Ile187Val |
M0060328 |
CFLCIGPH_00012 |
9989 |
68 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
523A>G |
Thr175Ala |
M0060329 |
CFLCIGPH_00012 |
9992 |
18 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
520T>C |
Phe174Leu |
M0060330 |
CFLCIGPH_00012 |
10021 |
68 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
491G>A |
Arg164Gln |
M0060331 |
CFLCIGPH_00012 |
10029 |
18 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
483G>A |
Lys161Lys |
M0060332 |
CFLCIGPH_00012 |
10035 |
18 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
477A>T |
Ala159Ala |
M0060333 |
CFLCIGPH_00012 |
10161 |
14 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
351A>G |
Val117Val |
M0060334 |
CFLCIGPH_00012 |
10186 |
17 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
326C>T |
Ala109Val |
M0060335 |
CFLCIGPH_00012 |
10194 |
16 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
318C>G |
Arg106Arg |
M0060336 |
CFLCIGPH_00012 |
10283 |
13 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
229G>A |
Ala77Thr |
M0060337 |
CFLCIGPH_00012 |
10386 |
14 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
126A>G |
Leu42Leu |
M0060338 |
CFLCIGPH_00012 |
10500 |
14 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
12A>G |
Pro4Pro |
M0060339 |
CFLCIGPH_00010 |
8958 |
14 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
313G>A |
Ala105Thr |
M0060340 |
CFLCIGPH_00006 |
5055 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
64G>A |
Glu22Lys |
M0060341 |
CFLCIGPH_00003 |
6409 |
10 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3644G>C |
None |
M0060342 |
CFLCIGPH_00003 |
6430 |
10 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3665A>C |
None |
M0060343 |
CFLCIGPH_00003 |
6440 |
8 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3675A>G |
None |
M0060344 |
CFLCIGPH_00003 |
6443 |
10 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3678A>G |
None |
M0060345 |
CFLCIGPH_00008 |
6715 |
26 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
469A>G |
Asn157Asp |
M0060346 |
CFLCIGPH_00008 |
6830 |
26 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
354T>C |
Asp118Asp |
M0060347 |
CFLCIGPH_00008 |
6833 |
26 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
351T>C |
Gly117Gly |
M0060348 |
CFLCIGPH_00008 |
6836 |
26 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
348A>G |
Lys116Lys |
M0060349 |
CFLCIGPH_00008 |
6839 |
26 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
345C>T |
Val115Val |
M0060350 |
CFLCIGPH_00008 |
6956 |
26 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
228A>G |
Lys76Lys |
M0060351 |
CFLCIGPH_00008 |
6987 |
26 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
197G>A |
Gly66Glu |
M0060352 |
CFLCIGPH_00008 |
7082 |
26 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
102A>G |
Gly34Gly |
M0060353 |
CFLCIGPH_00008 |
7087 |
26 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
97G>A |
Gly33Ser |
M0060354 |
CFLCIGPH_00008 |
7088 |
26 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
96A>G |
Ser32Ser |
M0060355 |
CFLCIGPH_00008 |
7107 |
26 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
77C>T |
Pro26Leu |
M0060356 |
CFLCIGPH_00008 |
7108 |
30 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
76C>T |
Pro26Ser |
M0060357 |
CFLCIGPH_00008 |
7114 |
26 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
70T>C |
Ser24Pro |
M0060358 |
CFLCIGPH_00008 |
7120 |
26 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
64A>G |
Ser22Gly |
M0060359 |
CFLCIGPH_00008 |
7139 |
27 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
45C>T |
Tyr15Tyr |
M0060360 |
CFLCIGPH_00008 |
7142 |
27 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
42A>G |
Gln14Gln |
M0060361 |
CFLCIGPH_00003 |
7199 |
26 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4434C>T |
None |
M0060362 |
CFLCIGPH_00003 |
7219 |
26 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4454C>T |
None |
M0060363 |
CFLCIGPH_00003 |
7286 |
25 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4521G>A |
None |
M0060364 |
CFLCIGPH_00003 |
7314 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4549T>C |
None |
M0060365 |
CFLCIGPH_00009 |
7401 |
6 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
68C>T |
Ala23Val |
M0060366 |
CFLCIGPH_00009 |
8082 |
27 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
749T>C |
Val250Ala |
M0060367 |
CFLCIGPH_00009 |
8147 |
26 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
814C>T |
Leu272Leu |
M0060368 |
CFLCIGPH_00009 |
8155 |
26 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
822G>A |
Val274Val |
M0060369 |
CFLCIGPH_00009 |
8179 |
26 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
846G>C |
Pro282Pro |
M0060370 |
CFLCIGPH_00009 |
8182 |
26 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
849C>T |
Asp283Asp |
M0060371 |
CFLCIGPH_00009 |
8239 |
26 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
906T>C |
Pro302Pro |
M0060372 |
CFLCIGPH_00009 |
8275 |
25 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
942C>G |
Arg314Arg |
M0060373 |
CFLCIGPH_00009 |
8287 |
25 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
954T>C |
Ala318Ala |
M0060374 |
CFLCIGPH_00009 |
8335 |
21 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1002G>A |
Ala334Ala |
M0060375 |
CFLCIGPH_00009 |
8372 |
21 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1039A>G |
Ile347Val |
M0060376 |
CFLCIGPH_00009 |
8380 |
21 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1047A>G |
Gly349Gly |
M0060377 |
CFLCIGPH_00009 |
8428 |
22 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1095T>C |
Gly365Gly |
M0060378 |
CFLCIGPH_00009 |
8440 |
22 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1107T>A |
Gly369Gly |
M0060379 |
CFLCIGPH_00009 |
8443 |
22 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1110G>A |
Gly370Gly |
M0060380 |
CFLCIGPH_00001 |
1230 |
23 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1129C>T |
Pro377Ser |
M0060381 |
CFLCIGPH_00002 |
1465 |
35 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
61G>A |
Asp21Asn |
M0060382 |
CFLCIGPH_00004 |
2459 |
17 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-700C>G |
None |
M0060383 |
CFLCIGPH_00007 |
6355 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
928A>T |
Asn310Tyr |
M0060384 |
CFLCIGPH_00009 |
7536 |
4 |
Skin |
0.01 |
protein_coding |
stop_gained |
HIGH |
203G>A |
Trp68* |
M0060385 |
CFLCIGPH_00008 |
9945 |
44 |
Skin |
0.15 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2762C>T |
None |
M0060386 |
CFLCIGPH_00012 |
9960 |
44 |
Skin |
0.15 |
protein_coding |
synonymous_variant |
LOW |
552T>C |
Tyr184Tyr |
M0060387 |
CFLCIGPH_00009 |
8524 |
21 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1191T>C |
Asp397Asp |
M0060388 |
CFLCIGPH_00009 |
8528 |
21 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1195A>G |
Asn399Asp |
M0060389 |
CFLCIGPH_00009 |
8562 |
21 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1229A>G |
Gln410Arg |
M0060390 |
CFLCIGPH_00008 |
8581 |
21 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1398G>A |
None |
M0060391 |
CFLCIGPH_00008 |
8583 |
21 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1400A>G |
None |
M0060392 |
CFLCIGPH_00008 |
8585 |
21 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1402A>G |
None |
M0060393 |
CFLCIGPH_00008 |
8587 |
21 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1404G>A |
None |
M0060394 |
CFLCIGPH_00008 |
8598 |
21 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1415T>C |
None |
M0060395 |
CFLCIGPH_00008 |
8602 |
21 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1419C>G |
None |
M0060396 |
CFLCIGPH_00008 |
8603 |
21 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1420A>T |
None |
M0060397 |
CFLCIGPH_00008 |
8609 |
21 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1426C>T |
None |
M0060398 |
CFLCIGPH_00008 |
8613 |
21 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1430C>T |
None |
M0060399 |
CFLCIGPH_00008 |
8624 |
21 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1441T>C |
None |
M0060400 |
CFLCIGPH_00008 |
8626 |
21 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1443T>C |
None |
M0060401 |
CFLCIGPH_00008 |
8627 |
21 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1444C>T |
None |
M0060402 |
CFLCIGPH_00005 |
4718 |
15 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1265A>G |
Glu422Gly |
M0060403 |
CFLCIGPH_00007 |
6267 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
840A>C |
Gln280His |
M0060404 |
CFLCIGPH_00007 |
6268 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
841G>A |
Val281Met |
M0060405 |
CFLCIGPH_00007 |
6290 |
4 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
863T>C |
Val288Ala |
M0060406 |
CFLCIGPH_00007 |
6310 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
883A>G |
Lys295Glu |
M0060407 |
CFLCIGPH_00004 |
3316 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
158G>A |
Arg53His |
M0060408 |
CFLCIGPH_00009 |
7973 |
12 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
640G>A |
Glu214Lys |
M0060409 |
CFLCIGPH_00008 |
6566 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
618C>T |
Ala206Ala |
M0060410 |
CFLCIGPH_00010 |
8784 |
3 |
Skin |
0.01 |
protein_coding |
stop_gained |
HIGH |
139C>T |
Gln47* |
M0060411 |
CFLCIGPH_00002 |
1699 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
295G>A |
Ala99Thr |
M0060412 |
CFLCIGPH_00002 |
1797 |
6 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
393C>T |
Ser131Ser |
M0060413 |
CFLCIGPH_00002 |
1851 |
6 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
447C>T |
Ile149Ile |
M0060414 |
CFLCIGPH_00002 |
1896 |
6 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
492G>A |
Thr164Thr |
M0060415 |
CFLCIGPH_00002 |
1899 |
6 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
495G>A |
Arg165Arg |
M0060416 |
CFLCIGPH_00002 |
1909 |
6 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
505G>A |
Val169Ile |
M0060417 |
CFLCIGPH_00002 |
1943 |
8 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
539T>C |
Val180Ala |
M0060418 |
CFLCIGPH_00002 |
2038 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
634A>G |
Ser212Gly |
M0060419 |
CFLCIGPH_00002 |
2044 |
8 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
640A>C |
Arg214Arg |
M0060420 |
CFLCIGPH_00002 |
2061 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
657C>T |
Gly219Gly |
M0060421 |
CFLCIGPH_00002 |
2063 |
8 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
659A>G |
Lys220Arg |
M0060422 |
CFLCIGPH_00002 |
2112 |
7 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
708C>T |
Asp236Asp |
M0060423 |
CFLCIGPH_00002 |
2159 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
755G>A |
Arg252His |
M0060424 |
CFLCIGPH_00002 |
2163 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
759G>A |
Gly253Gly |
M0060425 |
CFLCIGPH_00002 |
2201 |
5 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
797C>T |
Pro266Leu |
M0060426 |
CFLCIGPH_00002 |
2214 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
810G>A |
Ser270Ser |
M0060427 |
CFLCIGPH_00001 |
1072 |
7 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
971T>C |
Val324Ala |
M0060428 |
CFLCIGPH_00009 |
8391 |
4 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1058A>G |
Asp353Gly |
M0060429 |
CFLCIGPH_00004 |
3166 |
4 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
8C>T |
Ser3Leu |
M0060430 |
CFLCIGPH_00003 |
2823 |
5 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-58T>C |
None |
M0060431 |
CFLCIGPH_00006 |
5378 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
387C>A |
Ser129Ser |
M0060432 |
CFLCIGPH_00003 |
2779 |
3 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-14T>C |
None |
M0060433 |
CFLCIGPH_00002 |
1431 |
3 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
27G>C |
Gln9His |
M0060434 |
CFLCIGPH_00011 |
9801 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
390G>A |
Pro130Pro |
M0060435 |
CFLCIGPH_00002 |
1515 |
3 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
111G>A |
Val37Val |
M0060436 |
CFLCIGPH_00002 |
1566 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
162G>A |
Gly54Gly |
M0060437 |
CFLCIGPH_00002 |
1611 |
5 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
207G>A |
Leu69Leu |
M0060438 |
CFLCIGPH_00002 |
1635 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
231G>A |
Ala77Ala |
M0060439 |
CFLCIGPH_00002 |
1668 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
264C>T |
Arg88Arg |
M0060440 |
CFLCIGPH_00002 |
1677 |
4 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
273A>G |
Leu91Leu |
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 |
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 |