Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C215 |
Reference Plasmid |
CP126057.1 |
Reference Plasmid Size |
80844 |
Reference Plasmid GC Content |
0.46 |
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 |
M0148253 |
GABHPBKE_00022 |
14941 |
94 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
209A>G |
Gln70Arg |
M0148254 |
GABHPBKE_00040 |
27634 |
24 |
Gut |
0.04 |
protein_coding |
missense_variant |
MODERATE |
164G>A |
Gly55Asp |
M0148255 |
GABHPBKE_00053 |
39219 |
115 |
Gut |
0.20 |
protein_coding |
missense_variant |
MODERATE |
1859A>G |
Gln620Arg |
M0148256 |
GABHPBKE_00053 |
39276 |
115 |
Gut |
0.20 |
protein_coding |
missense_variant |
MODERATE |
1802A>G |
Gln601Arg |
M0148257 |
GABHPBKE_00053 |
39507 |
116 |
Gut |
0.21 |
protein_coding |
missense_variant |
MODERATE |
1571A>G |
Gln524Arg |
M0148258 |
GABHPBKE_00057 |
42343 |
9 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
261G>A |
Pro87Pro |
M0148259 |
GABHPBKE_00053 |
44925 |
10 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3848G>A |
None |
M0148260 |
GABHPBKE_00053 |
45443 |
119 |
Gut |
0.21 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4366A>T |
None |
M0148261 |
GABHPBKE_00060 |
45629 |
15 |
Gut |
0.03 |
protein_coding |
synonymous_variant |
LOW |
429A>G |
Leu143Leu |
M0148262 |
GABHPBKE_00060 |
45634 |
9 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
424G>A |
Val142Ile |
M0148263 |
GABHPBKE_00060 |
45659 |
9 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
399T>C |
Asn133Asn |
M0148264 |
GABHPBKE_00060 |
45677 |
13 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
381G>T |
Thr127Thr |
M0148265 |
GABHPBKE_00001 |
246 |
36 |
Gut |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-359T>C |
None |
M0148266 |
GABHPBKE_00005 |
5013 |
8 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
14A>T |
Gln5Leu |
M0148267 |
GABHPBKE_00005 |
5021 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
6T>C |
Asp2Asp |
M0148268 |
GABHPBKE_00003 |
5138 |
6 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-985C>T |
None |
M0148269 |
GABHPBKE_00003 |
5147 |
7 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-994A>C |
None |
M0148270 |
GABHPBKE_00006 |
5567 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
204T>C |
Thr68Thr |
M0148271 |
GABHPBKE_00006 |
5576 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
195T>A |
Thr65Thr |
M0148272 |
GABHPBKE_00013 |
11194 |
83 |
Gut |
0.15 |
protein_coding |
missense_variant |
MODERATE |
158A>G |
Gln53Arg |
M0148273 |
GABHPBKE_00014 |
11768 |
77 |
Gut |
0.14 |
protein_coding |
synonymous_variant |
LOW |
453T>C |
Arg151Arg |
M0148274 |
GABHPBKE_00012 |
12587 |
80 |
Gut |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1607A>G |
None |
M0148275 |
GABHPBKE_00019 |
13914 |
13 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
118C>T |
Arg40Cys |
M0148276 |
GABHPBKE_00028 |
22014 |
12 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3622A>G |
None |
M0148277 |
GABHPBKE_00028 |
22023 |
8 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3631C>T |
None |
M0148278 |
GABHPBKE_00028 |
22180 |
9 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3788T>G |
None |
M0148279 |
GABHPBKE_00028 |
22196 |
7 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3804T>G |
None |
M0148280 |
GABHPBKE_00028 |
22200 |
8 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3808T>A |
None |
M0148281 |
GABHPBKE_00028 |
22203 |
9 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3811G>A |
None |
M0148282 |
GABHPBKE_00032 |
24271 |
25 |
Gut |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3796G>T |
None |
M0148283 |
GABHPBKE_00079 |
61122 |
7 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-618A>G |
None |
M0148284 |
GABHPBKE_00082 |
61755 |
22 |
Gut |
0.04 |
protein_coding |
synonymous_variant |
LOW |
115T>C |
Leu39Leu |
M0148285 |
GABHPBKE_00083 |
62288 |
27 |
Gut |
0.05 |
protein_coding |
missense_variant |
MODERATE |
88A>G |
Thr30Ala |
M0148286 |
GABHPBKE_00083 |
62417 |
9 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
217T>C |
Leu73Leu |
M0148287 |
GABHPBKE_00083 |
62452 |
10 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
252A>C |
Ser84Ser |
M0148288 |
GABHPBKE_00083 |
62471 |
11 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
271T>G |
Ser91Ala |
M0148289 |
GABHPBKE_00083 |
62512 |
10 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
312T>C |
Ile104Ile |
M0148290 |
GABHPBKE_00083 |
62519 |
9 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
319C>T |
Leu107Leu |
M0148291 |
GABHPBKE_00083 |
62533 |
15 |
Gut |
0.03 |
protein_coding |
synonymous_variant |
LOW |
333G>A |
Thr111Thr |
M0148292 |
GABHPBKE_00083 |
62575 |
13 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
375C>T |
Ile125Ile |
M0148293 |
GABHPBKE_00083 |
62584 |
13 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
384G>A |
Leu128Leu |
M0148294 |
GABHPBKE_00083 |
62602 |
11 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
402G>A |
Ala134Ala |
M0148295 |
GABHPBKE_00083 |
62727 |
27 |
Gut |
0.05 |
protein_coding |
missense_variant |
MODERATE |
527A>G |
Gln176Arg |
M0148296 |
GABHPBKE_00083 |
62832 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
632G>A |
Ser211Asn |
M0148297 |
GABHPBKE_00079 |
62908 |
8 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2404T>C |
None |
M0148298 |
GABHPBKE_00084 |
63486 |
13 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
520T>C |
Cys174Arg |
M0148299 |
GABHPBKE_00084 |
63488 |
12 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
522T>C |
Cys174Cys |
M0148300 |
GABHPBKE_00084 |
63537 |
12 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
571G>A |
Ala191Thr |
M0148301 |
GABHPBKE_00084 |
63541 |
12 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
575G>A |
Arg192Lys |
M0148302 |
GABHPBKE_00084 |
63557 |
12 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
591C>T |
Leu197Leu |
M0148303 |
GABHPBKE_00084 |
63704 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
738A>G |
Glu246Glu |
M0148304 |
GABHPBKE_00079 |
64034 |
27 |
Gut |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3530T>C |
None |
M0148305 |
GABHPBKE_00079 |
64377 |
26 |
Gut |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3873A>C |
None |
M0148306 |
GABHPBKE_00079 |
65493 |
28 |
Gut |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4989A>G |
None |
M0148307 |
GABHPBKE_00082 |
65676 |
25 |
Gut |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3807C>A |
None |
M0148308 |
GABHPBKE_00087 |
66451 |
30 |
Gut |
0.05 |
protein_coding |
missense_variant |
MODERATE |
317A>G |
Gln106Arg |
M0148309 |
GABHPBKE_00087 |
67000 |
25 |
Gut |
0.04 |
protein_coding |
missense_variant |
MODERATE |
866G>A |
Arg289Lys |
M0148310 |
GABHPBKE_00083 |
67290 |
8 |
Gut |
0.01 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4451A>G |
None |
M0148311 |
GABHPBKE_00088 |
67506 |
17 |
Gut |
0.03 |
protein_coding |
missense_variant |
MODERATE |
598T>C |
Trp200Arg |
M0148312 |
GABHPBKE_00088 |
67594 |
17 |
Gut |
0.03 |
protein_coding |
synonymous_variant |
LOW |
510T>C |
Pro170Pro |
M0148313 |
GABHPBKE_00089 |
68449 |
8 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1754C>T |
Ala585Val |
M0148314 |
GABHPBKE_00089 |
68528 |
16 |
Gut |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1675A>G |
Asn559Asp |
M0148315 |
GABHPBKE_00088 |
70421 |
14 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2318T>C |
None |
M0148316 |
GABHPBKE_00090 |
70615 |
15 |
Gut |
0.03 |
protein_coding |
synonymous_variant |
LOW |
672T>C |
Pro224Pro |
M0148317 |
GABHPBKE_00091 |
72790 |
12 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
141T>C |
Pro47Pro |
M0148318 |
GABHPBKE_00092 |
73805 |
8 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
539A>G |
Gln180Arg |
M0148319 |
GABHPBKE_00094 |
75845 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
329T>C |
Leu110Pro |
M0148320 |
GABHPBKE_00095 |
76560 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
91A>G |
Thr31Ala |
M0148321 |
GABHPBKE_00095 |
76577 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
108A>C |
Ala36Ala |
M0148322 |
GABHPBKE_00095 |
76743 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
274C>A |
Pro92Thr |
M0148323 |
GABHPBKE_00095 |
76810 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
341T>C |
Val114Ala |
M0148324 |
GABHPBKE_00095 |
77069 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
600T>C |
Ala200Ala |
M0148325 |
GABHPBKE_00095 |
77168 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
699A>C |
Ser233Ser |
M0148326 |
GABHPBKE_00095 |
77228 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
759T>A |
Asp253Glu |
M0148327 |
GABHPBKE_00096 |
77454 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
63A>G |
Thr21Thr |
M0148328 |
GABHPBKE_00096 |
77505 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
114A>C |
Val38Val |
M0148329 |
GABHPBKE_00096 |
77523 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
132T>A |
Gly44Gly |
M0148330 |
GABHPBKE_00096 |
77532 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
141G>A |
Val47Val |
M0148331 |
GABHPBKE_00096 |
77739 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
348C>G |
Cys116Trp |
M0148332 |
GABHPBKE_00096 |
77746 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
355G>A |
Asp119Asn |
M0148333 |
GABHPBKE_00096 |
77751 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
360G>T |
Lys120Asn |
M0148334 |
GABHPBKE_00096 |
77754 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
363T>C |
Ala121Ala |
M0148335 |
GABHPBKE_00096 |
77787 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
396A>C |
Ala132Ala |
M0148336 |
GABHPBKE_00096 |
77803 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
412C>T |
Leu138Leu |
M0148337 |
GABHPBKE_00096 |
77817 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
426A>G |
Gln142Gln |
M0148338 |
GABHPBKE_00096 |
77826 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
435T>C |
Asp145Asp |
M0148339 |
GABHPBKE_00096 |
78069 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
678A>G |
Lys226Lys |
M0148340 |
GABHPBKE_00060 |
50301 |
36 |
Gut |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4244A>G |
None |
M0148341 |
GABHPBKE_00060 |
50357 |
35 |
Gut |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4300T>C |
None |
M0148342 |
GABHPBKE_00062 |
46622 |
13 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
138G>T |
Val46Val |
M0148343 |
GABHPBKE_00041 |
29339 |
137 |
Gut |
0.24 |
protein_coding |
missense_variant |
MODERATE |
428A>G |
Gln143Arg |
M0148344 |
GABHPBKE_00043 |
30509 |
112 |
Gut |
0.20 |
protein_coding |
missense_variant |
MODERATE |
824A>G |
Gln275Arg |
M0148345 |
GABHPBKE_00043 |
30617 |
111 |
Gut |
0.20 |
protein_coding |
missense_variant |
MODERATE |
716A>G |
Gln239Arg |
M0148346 |
GABHPBKE_00045 |
32357 |
111 |
Gut |
0.20 |
protein_coding |
missense_variant |
MODERATE |
656A>G |
Gln219Arg |
M0148347 |
GABHPBKE_00045 |
32533 |
109 |
Gut |
0.19 |
protein_coding |
synonymous_variant |
LOW |
480A>G |
Pro160Pro |
M0148348 |
GABHPBKE_00046 |
33922 |
109 |
Gut |
0.19 |
protein_coding |
missense_variant |
MODERATE |
200A>G |
Gln67Arg |
M0148349 |
GABHPBKE_00048 |
34901 |
110 |
Gut |
0.20 |
protein_coding |
missense_variant |
MODERATE |
698A>G |
Asn233Ser |
M0148350 |
GABHPBKE_00049 |
35742 |
112 |
Gut |
0.20 |
protein_coding |
missense_variant |
MODERATE |
542A>G |
Asn181Ser |
M0148351 |
GABHPBKE_00070 |
51435 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
870A>G |
Gln290Gln |
M0148352 |
GABHPBKE_00068 |
54583 |
16 |
Gut |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4475A>G |
None |
M0148353 |
GABHPBKE_00068 |
54595 |
24 |
Gut |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4487T>C |
None |
M0148354 |
GABHPBKE_00068 |
54602 |
22 |
Gut |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4494G>T |
None |
M0148355 |
GABHPBKE_00068 |
54605 |
16 |
Gut |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4497A>G |
None |
M0148356 |
GABHPBKE_00068 |
54607 |
22 |
Gut |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4499C>G |
None |
M0148357 |
GABHPBKE_00068 |
54736 |
7 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4628A>G |
None |
M0148358 |
GABHPBKE_00073 |
54879 |
21 |
Gut |
0.04 |
protein_coding |
synonymous_variant |
LOW |
828A>T |
Pro276Pro |
M0148359 |
GABHPBKE_00073 |
54898 |
17 |
Gut |
0.03 |
protein_coding |
missense_variant |
MODERATE |
809A>G |
Gln270Arg |
M0148360 |
GABHPBKE_00073 |
54929 |
21 |
Gut |
0.04 |
protein_coding |
missense_variant |
MODERATE |
778T>C |
Tyr260His |
M0148361 |
GABHPBKE_00073 |
54991 |
21 |
Gut |
0.04 |
protein_coding |
missense_variant |
MODERATE |
716G>A |
Ser239Asn |
M0148362 |
GABHPBKE_00073 |
55051 |
21 |
Gut |
0.04 |
protein_coding |
missense_variant |
MODERATE |
656A>G |
Lys219Arg |
M0148363 |
GABHPBKE_00073 |
55181 |
21 |
Gut |
0.04 |
protein_coding |
missense_variant |
MODERATE |
526A>G |
Ile176Val |
M0148364 |
GABHPBKE_00073 |
55249 |
20 |
Gut |
0.04 |
protein_coding |
missense_variant |
MODERATE |
458C>T |
Thr153Ile |
M0148365 |
GABHPBKE_00038 |
25164 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
707G>A |
Ser236Asn |
M0148366 |
GABHPBKE_00038 |
25166 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
705G>A |
Gly235Gly |
M0148367 |
GABHPBKE_00038 |
25397 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
474T>C |
Ile158Ile |
M0148368 |
GABHPBKE_00038 |
25403 |
8 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
468A>C |
Leu156Phe |
M0148369 |
GABHPBKE_00050 |
36324 |
71 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1020C>T |
Ile340Ile |
M0148370 |
GABHPBKE_00053 |
43734 |
13 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2657C>A |
None |
M0148371 |
GABHPBKE_00071 |
52591 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
57T>C |
Asn19Asn |
M0148372 |
GABHPBKE_00068 |
54521 |
9 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4413A>G |
None |
M0148373 |
GABHPBKE_00028 |
18381 |
14 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
12C>A |
Gly4Gly |
M0148374 |
GABHPBKE_00053 |
39750 |
19 |
Gut |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1328C>T |
Ala443Val |
M0148375 |
GABHPBKE_00073 |
54979 |
19 |
Gut |
0.03 |
protein_coding |
missense_variant |
MODERATE |
728A>G |
Asn243Ser |
M0148376 |
GABHPBKE_00073 |
55082 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
625G>A |
Glu209Lys |
M0148377 |
GABHPBKE_00069 |
55745 |
8 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4796G>A |
None |
M0148378 |
GABHPBKE_00074 |
55937 |
12 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
141A>G |
Ala47Ala |
M0148379 |
GABHPBKE_00070 |
56352 |
15 |
Gut |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4048C>T |
None |
M0148380 |
GABHPBKE_00070 |
56374 |
16 |
Gut |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4070G>A |
None |
M0148381 |
GABHPBKE_00070 |
56461 |
17 |
Gut |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4157T>G |
None |
M0148382 |
GABHPBKE_00070 |
56479 |
18 |
Gut |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4175A>G |
None |
M0148383 |
GABHPBKE_00076 |
56609 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
39C>T |
Pro13Pro |
M0148384 |
GABHPBKE_00076 |
56870 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
300G>A |
Leu100Leu |
M0148385 |
GABHPBKE_00076 |
57088 |
14 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
518T>C |
Leu173Ser |
M0148386 |
GABHPBKE_00076 |
57143 |
13 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
573A>C |
Lys191Asn |
M0148387 |
GABHPBKE_00077 |
57240 |
14 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
8T>G |
Leu3Arg |
M0148388 |
GABHPBKE_00077 |
57277 |
13 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
45G>A |
Met15Ile |
M0148389 |
GABHPBKE_00077 |
57344 |
11 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
112G>A |
Val38Ile |
M0148390 |
GABHPBKE_00048 |
35250 |
9 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
349G>A |
Asp117Asn |
M0148391 |
GABHPBKE_00053 |
40660 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
418C>A |
Leu140Met |
M0148392 |
GABHPBKE_00057 |
42454 |
13 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
150G>C |
Leu50Leu |
M0148393 |
GABHPBKE_00062 |
46394 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
366C>T |
Ile122Ile |
M0148394 |
GABHPBKE_00056 |
46872 |
15 |
Gut |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4866G>A |
None |
M0148395 |
GABHPBKE_00056 |
46901 |
13 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4895T>A |
None |
M0148396 |
GABHPBKE_00065 |
48680 |
18 |
Gut |
0.03 |
protein_coding |
missense_variant |
MODERATE |
911T>A |
Leu304His |
M0148397 |
GABHPBKE_00015 |
12687 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
58A>G |
Ile20Val |
M0148398 |
GABHPBKE_00012 |
15920 |
6 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4940A>G |
None |
M0148399 |
GABHPBKE_00012 |
15922 |
20 |
Gut |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4942T>C |
None |
M0148400 |
GABHPBKE_00012 |
15935 |
6 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4955G>A |
None |
M0148401 |
GABHPBKE_00012 |
15936 |
9 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4956A>T |
None |
M0148402 |
GABHPBKE_00023 |
16147 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
198G>A |
Ser66Ser |
M0148403 |
GABHPBKE_00023 |
16214 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
265A>G |
Ile89Val |
M0148404 |
GABHPBKE_00023 |
16234 |
17 |
Gut |
0.03 |
protein_coding |
synonymous_variant |
LOW |
285C>T |
Gly95Gly |
M0148405 |
GABHPBKE_00023 |
16319 |
16 |
Gut |
0.03 |
protein_coding |
missense_variant |
MODERATE |
370G>A |
Ala124Thr |
M0148406 |
GABHPBKE_00023 |
16340 |
17 |
Gut |
0.03 |
protein_coding |
synonymous_variant |
LOW |
391C>T |
Leu131Leu |
M0148407 |
GABHPBKE_00014 |
16454 |
7 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4234C>T |
None |
M0148408 |
GABHPBKE_00024 |
16533 |
17 |
Gut |
0.03 |
protein_coding |
synonymous_variant |
LOW |
48A>T |
Thr16Thr |
M0148409 |
GABHPBKE_00024 |
16589 |
17 |
Gut |
0.03 |
protein_coding |
missense_variant |
MODERATE |
104C>T |
Thr35Met |
M0148410 |
GABHPBKE_00024 |
16688 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
203C>T |
Ser68Leu |
M0148411 |
GABHPBKE_00025 |
16977 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
213A>G |
Gly71Gly |
M0148412 |
GABHPBKE_00025 |
17190 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
426G>A |
Arg142Arg |
M0148413 |
GABHPBKE_00025 |
17238 |
21 |
Gut |
0.04 |
protein_coding |
synonymous_variant |
LOW |
474T>C |
Thr158Thr |
M0148414 |
GABHPBKE_00025 |
17334 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
570G>A |
Gln190Gln |
M0148415 |
GABHPBKE_00025 |
17355 |
21 |
Gut |
0.04 |
protein_coding |
synonymous_variant |
LOW |
591A>G |
Leu197Leu |
M0148416 |
GABHPBKE_00025 |
17373 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
609G>A |
Thr203Thr |
M0148417 |
GABHPBKE_00025 |
17378 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
614C>T |
Ala205Val |
M0148418 |
GABHPBKE_00025 |
17395 |
22 |
Gut |
0.04 |
protein_coding |
missense_variant |
MODERATE |
631G>A |
Val211Ile |
M0148419 |
GABHPBKE_00025 |
17436 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
672G>A |
Leu224Leu |
M0148420 |
GABHPBKE_00025 |
17450 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
686A>C |
Gln229Pro |
M0148421 |
GABHPBKE_00025 |
17457 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
693C>T |
Asn231Asn |
M0148422 |
GABHPBKE_00020 |
17510 |
7 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3002C>T |
None |
M0148423 |
GABHPBKE_00020 |
17519 |
7 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3011A>T |
None |
M0148424 |
GABHPBKE_00026 |
17642 |
20 |
Gut |
0.04 |
protein_coding |
missense_variant |
MODERATE |
123A>G |
Ile41Met |
M0148425 |
GABHPBKE_00026 |
17654 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
135G>A |
Gly45Gly |
M0148426 |
GABHPBKE_00026 |
17816 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
297C>T |
Thr99Thr |
M0148427 |
GABHPBKE_00026 |
17842 |
21 |
Gut |
0.04 |
protein_coding |
splice_region_variant&stop_retained_variant |
LOW |
323G>A |
Ter108Ter |
M0148428 |
GABHPBKE_00027 |
17855 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
13T>A |
Phe5Ile |
M0148429 |
GABHPBKE_00027 |
17871 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
29T>A |
Leu10Gln |
M0148430 |
GABHPBKE_00087 |
66155 |
11 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
21A>G |
Gln7Gln |
M0148431 |
GABHPBKE_00087 |
66167 |
12 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
33T>C |
Asn11Asn |
M0148432 |
GABHPBKE_00012 |
15871 |
13 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4891T>C |
None |
M0148433 |
GABHPBKE_00012 |
15879 |
9 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4899C>A |
None |
M0148434 |
GABHPBKE_00043 |
31301 |
14 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
32G>A |
Arg11His |
M0148435 |
GABHPBKE_00045 |
32211 |
17 |
Gut |
0.03 |
protein_coding |
synonymous_variant |
LOW |
802C>T |
Leu268Leu |
M0148436 |
GABHPBKE_00048 |
35149 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
450G>A |
Ala150Ala |
M0148437 |
GABHPBKE_00050 |
36976 |
13 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
368T>C |
Val123Ala |
M0148438 |
GABHPBKE_00050 |
36997 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
347C>T |
Thr116Ile |
M0148439 |
GABHPBKE_00052 |
38112 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
61A>G |
Ser21Gly |
M0148440 |
GABHPBKE_00053 |
38828 |
10 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2250A>G |
Thr750Thr |
M0148441 |
GABHPBKE_00053 |
38978 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2100C>T |
Asn700Asn |
M0148442 |
GABHPBKE_00053 |
38993 |
12 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2085T>C |
Tyr695Tyr |
M0148443 |
GABHPBKE_00063 |
47136 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
22C>A |
Pro8Thr |
M0148444 |
GABHPBKE_00065 |
48120 |
27 |
Gut |
0.05 |
protein_coding |
missense_variant |
MODERATE |
351A>G |
Ile117Met |
M0148445 |
GABHPBKE_00028 |
20258 |
42 |
Gut |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1866A>G |
None |
M0148446 |
GABHPBKE_00028 |
20482 |
42 |
Gut |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2090A>G |
None |
M0148447 |
GABHPBKE_00034 |
21609 |
38 |
Gut |
0.07 |
protein_coding |
missense_variant |
MODERATE |
392A>G |
Asn131Ser |
M0148448 |
GABHPBKE_00028 |
21853 |
8 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3461A>G |
None |
M0148449 |
GABHPBKE_00028 |
21921 |
7 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3529A>G |
None |
M0148450 |
GABHPBKE_00028 |
22282 |
9 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3890T>C |
None |
M0148451 |
GABHPBKE_00038 |
25457 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
414A>G |
Gln138Gln |
M0148452 |
GABHPBKE_00038 |
25811 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
60G>A |
Glu20Glu |
M0148453 |
GABHPBKE_00041 |
27847 |
20 |
Gut |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1920T>C |
His640His |
M0148454 |
GABHPBKE_00041 |
27858 |
19 |
Gut |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1909G>A |
Ala637Thr |
M0148455 |
GABHPBKE_00041 |
27861 |
18 |
Gut |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1906G>A |
Ala636Thr |
M0148456 |
GABHPBKE_00041 |
27910 |
17 |
Gut |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1857T>C |
Ala619Ala |
M0148457 |
GABHPBKE_00041 |
27934 |
17 |
Gut |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1833T>C |
Ile611Ile |
M0148458 |
GABHPBKE_00041 |
29755 |
9 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
12A>G |
Glu4Glu |
M0148459 |
GABHPBKE_00037 |
29777 |
11 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4986T>C |
None |
M0148460 |
GABHPBKE_00064 |
47671 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
174G>A |
Arg58Arg |
M0148461 |
GABHPBKE_00077 |
57597 |
13 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
365A>G |
Gln122Arg |
M0148462 |
GABHPBKE_00077 |
57607 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
375C>T |
Ala125Ala |
M0148463 |
GABHPBKE_00077 |
57644 |
13 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
412A>G |
Arg138Gly |
M0148464 |
GABHPBKE_00077 |
57669 |
13 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
437A>G |
Glu146Gly |
M0148465 |
GABHPBKE_00077 |
57677 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
445A>G |
Thr149Ala |
M0148466 |
GABHPBKE_00077 |
57680 |
8 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
448A>G |
Lys150Glu |
M0148467 |
GABHPBKE_00077 |
57686 |
8 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
454A>G |
Ile152Val |
M0148468 |
GABHPBKE_00077 |
57739 |
14 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
507A>T |
Gly169Gly |
M0148469 |
GABHPBKE_00077 |
57740 |
14 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
508A>C |
Ile170Leu |
M0148470 |
GABHPBKE_00077 |
57754 |
14 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
522C>T |
Asp174Asp |
M0148471 |
GABHPBKE_00077 |
57961 |
13 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
729A>C |
Ser243Ser |
M0148472 |
GABHPBKE_00077 |
58028 |
10 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
796A>G |
Ile266Val |
M0148473 |
GABHPBKE_00073 |
59540 |
17 |
Gut |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3834A>G |
None |
M0148474 |
GABHPBKE_00073 |
59860 |
13 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4154G>A |
None |
M0148475 |
GABHPBKE_00073 |
59866 |
14 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4160T>G |
None |
M0148476 |
GABHPBKE_00079 |
60081 |
14 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
424C>T |
Leu142Leu |
M0148477 |
GABHPBKE_00079 |
60196 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
309A>G |
Glu103Glu |
M0148478 |
GABHPBKE_00079 |
60202 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
303G>A |
Gly101Gly |
M0148479 |
GABHPBKE_00079 |
60361 |
15 |
Gut |
0.03 |
protein_coding |
synonymous_variant |
LOW |
144T>C |
Thr48Thr |
M0148480 |
GABHPBKE_00079 |
60373 |
15 |
Gut |
0.03 |
protein_coding |
synonymous_variant |
LOW |
132A>G |
Gln44Gln |
M0148481 |
GABHPBKE_00079 |
60376 |
15 |
Gut |
0.03 |
protein_coding |
synonymous_variant |
LOW |
129A>G |
Gly43Gly |
M0148482 |
GABHPBKE_00079 |
60424 |
13 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
81C>T |
Gly27Gly |
M0148483 |
GABHPBKE_00079 |
60448 |
15 |
Gut |
0.03 |
protein_coding |
synonymous_variant |
LOW |
57T>C |
Thr19Thr |
M0148484 |
GABHPBKE_00079 |
60466 |
15 |
Gut |
0.03 |
protein_coding |
synonymous_variant |
LOW |
39A>G |
Lys13Lys |
M0148485 |
GABHPBKE_00073 |
60567 |
10 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4861A>C |
None |
M0148486 |
GABHPBKE_00080 |
60842 |
12 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
52G>A |
Val18Met |
M0148487 |
GABHPBKE_00082 |
61795 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
75G>T |
Trp25Cys |
M0148488 |
GABHPBKE_00083 |
62623 |
12 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
423C>T |
Ile141Ile |
M0148489 |
GABHPBKE_00083 |
62692 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
492C>T |
Ser164Ser |
M0148490 |
GABHPBKE_00083 |
62800 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
600G>A |
Ser200Ser |
M0148491 |
GABHPBKE_00084 |
63377 |
9 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
411C>T |
Ile137Ile |
M0148492 |
GABHPBKE_00084 |
63467 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
501G>A |
Gln167Gln |
M0148493 |
GABHPBKE_00084 |
63475 |
11 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
509G>A |
Arg170Lys |
M0148494 |
GABHPBKE_00084 |
63482 |
11 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
516G>A |
Ala172Ala |
M0148495 |
GABHPBKE_00079 |
63929 |
7 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3425C>T |
None |
M0148496 |
GABHPBKE_00079 |
63937 |
11 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3433G>A |
None |
M0148497 |
GABHPBKE_00079 |
63955 |
11 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3451C>T |
None |
M0148498 |
GABHPBKE_00079 |
64059 |
9 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3555G>A |
None |
M0148499 |
GABHPBKE_00079 |
64060 |
16 |
Gut |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3556G>C |
None |
M0148500 |
GABHPBKE_00079 |
64061 |
13 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3557G>C |
None |
M0148501 |
GABHPBKE_00079 |
64121 |
8 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3617G>T |
None |
M0148502 |
GABHPBKE_00079 |
64204 |
13 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3700T>C |
None |
M0148503 |
GABHPBKE_00079 |
64259 |
9 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3755A>G |
None |
M0148504 |
GABHPBKE_00079 |
64919 |
12 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4415A>G |
None |
M0148505 |
GABHPBKE_00079 |
64947 |
11 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4443A>G |
None |
M0148506 |
GABHPBKE_00036 |
23480 |
10 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
930T>C |
Cys310Cys |
M0148507 |
GABHPBKE_00036 |
23545 |
8 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
995T>C |
Val332Ala |
M0148508 |
GABHPBKE_00036 |
23852 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1302G>A |
Lys434Lys |
M0148509 |
GABHPBKE_00036 |
23985 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1435T>C |
Leu479Leu |
M0148510 |
GABHPBKE_00037 |
24317 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
475G>A |
Ala159Thr |
M0148511 |
GABHPBKE_00037 |
24354 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
438T>C |
Ser146Ser |
M0148512 |
GABHPBKE_00037 |
24552 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
240C>T |
Ser80Ser |
M0148513 |
GABHPBKE_00038 |
24940 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
931G>A |
Glu311Lys |
M0148514 |
GABHPBKE_00038 |
25226 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
645C>T |
Ile215Ile |
M0148515 |
GABHPBKE_00038 |
25262 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
609A>G |
Ala203Ala |
M0148516 |
GABHPBKE_00038 |
25544 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
327A>G |
Arg109Arg |
M0148517 |
GABHPBKE_00008 |
7267 |
23 |
Gut |
0.04 |
protein_coding |
synonymous_variant |
LOW |
33A>G |
Lys11Lys |
M0148518 |
GABHPBKE_00066 |
49097 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
172C>G |
Leu58Val |
M0148519 |
GABHPBKE_00053 |
39431 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1647G>A |
Gly549Gly |
M0148520 |
GABHPBKE_00053 |
40025 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1053G>A |
Gln351Gln |
M0148521 |
GABHPBKE_00053 |
40033 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1045A>G |
Ile349Val |
M0148522 |
GABHPBKE_00053 |
40332 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
746G>A |
Ser249Asn |
M0148523 |
GABHPBKE_00055 |
41594 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
204T>C |
Ala68Ala |
M0148524 |
GABHPBKE_00055 |
41599 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
199T>C |
Leu67Leu |
M0148525 |
GABHPBKE_00058 |
43359 |
12 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
147C>T |
Thr49Thr |
M0148526 |
GABHPBKE_00058 |
43380 |
12 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
126A>G |
Lys42Lys |
M0148527 |
GABHPBKE_00053 |
43690 |
13 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2613C>T |
None |
M0148528 |
GABHPBKE_00053 |
43701 |
12 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2624A>G |
None |
M0148529 |
GABHPBKE_00059 |
43792 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1089A>G |
Val363Val |
M0148530 |
GABHPBKE_00059 |
43808 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1073T>C |
Ile358Thr |
M0148531 |
GABHPBKE_00059 |
44014 |
12 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
867C>T |
Asp289Asp |
M0148532 |
GABHPBKE_00059 |
44059 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
822C>T |
Tyr274Tyr |
M0148533 |
GABHPBKE_00059 |
44062 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
819C>T |
Pro273Pro |
M0148534 |
GABHPBKE_00059 |
44069 |
8 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
812A>G |
Lys271Arg |
M0148535 |
GABHPBKE_00059 |
44146 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
735C>T |
Thr245Thr |
M0148536 |
GABHPBKE_00059 |
44206 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
675A>G |
Gln225Gln |
M0148537 |
GABHPBKE_00059 |
44209 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
672C>T |
Asp224Asp |
M0148538 |
GABHPBKE_00059 |
44212 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
669T>A |
Val223Val |
M0148539 |
GABHPBKE_00059 |
44265 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
616C>T |
Leu206Leu |
M0148540 |
GABHPBKE_00059 |
44281 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
600G>A |
Leu200Leu |
M0148541 |
GABHPBKE_00059 |
44317 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
564C>A |
Pro188Pro |
M0148542 |
GABHPBKE_00059 |
44581 |
12 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
300C>G |
Gly100Gly |
M0148543 |
GABHPBKE_00053 |
45031 |
7 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3954T>G |
None |
M0148544 |
GABHPBKE_00053 |
45062 |
10 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3985C>T |
None |
M0148545 |
GABHPBKE_00053 |
45063 |
6 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3986G>A |
None |
M0148546 |
GABHPBKE_00053 |
45120 |
9 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4043G>A |
None |
M0148547 |
GABHPBKE_00005 |
4714 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
313A>G |
Ile105Val |
M0148548 |
GABHPBKE_00005 |
4844 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
183C>A |
Ala61Ala |
M0148549 |
GABHPBKE_00005 |
4898 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
129T>C |
Phe43Phe |
M0148550 |
GABHPBKE_00005 |
4950 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
77T>C |
Val26Ala |
M0148551 |
GABHPBKE_00020 |
18932 |
10 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4424C>T |
None |
M0148552 |
GABHPBKE_00030 |
19340 |
37 |
Gut |
0.07 |
protein_coding |
missense_variant |
MODERATE |
287C>T |
Ala96Val |
M0148553 |
GABHPBKE_00033 |
20873 |
15 |
Gut |
0.03 |
protein_coding |
synonymous_variant |
LOW |
15C>T |
Asn5Asn |
M0148554 |
GABHPBKE_00028 |
20962 |
41 |
Gut |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2570A>G |
None |
M0148555 |
GABHPBKE_00003 |
8994 |
6 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4841A>C |
None |
M0148556 |
GABHPBKE_00012 |
15613 |
8 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4633T>C |
None |
M0148557 |
GABHPBKE_00077 |
58081 |
14 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
849A>G |
Pro283Pro |
M0148558 |
GABHPBKE_00079 |
59970 |
8 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
535T>G |
Phe179Val |
M0148559 |
GABHPBKE_00079 |
59977 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
528A>C |
Ile176Ile |
M0148560 |
GABHPBKE_00079 |
60133 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
372T>C |
Cys124Cys |
M0148561 |
GABHPBKE_00079 |
60268 |
10 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
237C>T |
Gly79Gly |
M0148562 |
GABHPBKE_00079 |
60316 |
10 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
189T>C |
Gly63Gly |
M0148563 |
GABHPBKE_00079 |
60343 |
9 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
162T>C |
Ser54Ser |
M0148564 |
GABHPBKE_00079 |
65426 |
25 |
Gut |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4922A>G |
None |
M0148565 |
GABHPBKE_00087 |
66243 |
11 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
109A>G |
Thr37Ala |
M0148566 |
GABHPBKE_00087 |
66314 |
11 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
180A>G |
Thr60Thr |
M0148567 |
GABHPBKE_00087 |
66329 |
11 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
195A>T |
Lys65Asn |
M0148568 |
GABHPBKE_00073 |
60584 |
9 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4878G>A |
None |
M0148569 |
GABHPBKE_00073 |
60607 |
9 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4901T>C |
None |
M0148570 |
GABHPBKE_00073 |
60638 |
8 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4932A>C |
None |
M0148571 |
GABHPBKE_00073 |
60645 |
8 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4939C>T |
None |
M0148572 |
GABHPBKE_00073 |
60646 |
9 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4940A>G |
None |
M0148573 |
GABHPBKE_00084 |
63197 |
9 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
231C>T |
Ile77Ile |
M0148574 |
GABHPBKE_00084 |
63206 |
9 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
240C>T |
Tyr80Tyr |
M0148575 |
GABHPBKE_00028 |
18264 |
11 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
129C>T |
Gly43Gly |
M0148576 |
GABHPBKE_00028 |
18333 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
60A>G |
Lys20Lys |
M0148577 |
GABHPBKE_00028 |
18361 |
14 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
32C>T |
Ala11Val |
M0148578 |
GABHPBKE_00028 |
18366 |
15 |
Gut |
0.03 |
protein_coding |
synonymous_variant |
LOW |
27G>A |
Arg9Arg |
M0148579 |
GABHPBKE_00028 |
18378 |
14 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
15G>A |
Lys5Lys |
M0148580 |
GABHPBKE_00020 |
18604 |
9 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4096C>A |
None |
M0148581 |
GABHPBKE_00097 |
79642 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
666T>C |
Ile222Ile |
M0148582 |
GABHPBKE_00097 |
79645 |
10 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
669G>C |
Thr223Thr |
M0148583 |
GABHPBKE_00097 |
79789 |
11 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
813G>C |
Thr271Thr |
M0148584 |
GABHPBKE_00097 |
79801 |
9 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
825T>C |
Ala275Ala |
M0148585 |
GABHPBKE_00097 |
79817 |
8 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
841A>G |
Ile281Val |
M0148586 |
GABHPBKE_00097 |
79823 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
847G>A |
Glu283Lys |
M0148587 |
GABHPBKE_00097 |
79845 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
869G>C |
Ser290Thr |
M0148588 |
GABHPBKE_00097 |
79869 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
893C>A |
Thr298Asn |
M0148589 |
GABHPBKE_00097 |
79870 |
10 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
894T>A |
Thr298Thr |
M0148590 |
GABHPBKE_00097 |
79871 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
895G>A |
Asp299Asn |
M0148591 |
GABHPBKE_00097 |
79900 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
924A>G |
Thr308Thr |
M0148592 |
GABHPBKE_00097 |
79963 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
987T>C |
Ile329Ile |
M0148593 |
GABHPBKE_00097 |
80072 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1096A>C |
Asn366His |
M0148594 |
GABHPBKE_00097 |
80112 |
8 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1136A>C |
Tyr379Ser |
M0148595 |
GABHPBKE_00097 |
80114 |
8 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1138A>G |
Ser380Gly |
M0148596 |
GABHPBKE_00097 |
80190 |
8 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1214C>T |
Ala405Val |
M0148597 |
GABHPBKE_00097 |
80244 |
10 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1268C>T |
Thr423Met |
M0148598 |
GABHPBKE_00097 |
80248 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1272C>T |
Val424Val |
M0148599 |
GABHPBKE_00097 |
80311 |
9 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1335G>A |
Thr445Thr |
M0148600 |
GABHPBKE_00097 |
80322 |
10 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1346C>T |
Thr449Ile |
M0148601 |
GABHPBKE_00097 |
80332 |
9 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1356A>G |
Ile452Met |
M0148602 |
GABHPBKE_00097 |
80333 |
11 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1357A>G |
Asn453Asp |
M0148603 |
GABHPBKE_00097 |
80339 |
12 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1363G>A |
Ala455Thr |
M0148604 |
GABHPBKE_00097 |
80340 |
12 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1364C>A |
Ala455Glu |
M0148605 |
GABHPBKE_00097 |
80444 |
11 |
Gut |
0.02 |
protein_coding |
stop_gained |
HIGH |
1468A>T |
Lys490* |
M0148606 |
GABHPBKE_00097 |
80446 |
11 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1470A>T |
Lys490Asn |
M0148607 |
GABHPBKE_00097 |
80447 |
8 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1471G>A |
Val491Ile |
M0148608 |
GABHPBKE_00097 |
80449 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1473A>G |
Val491Val |
M0148609 |
GABHPBKE_00097 |
80570 |
14 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1594A>T |
Thr532Ser |
M0148610 |
GABHPBKE_00097 |
80574 |
17 |
Gut |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1598A>T |
Asp533Val |
M0148611 |
GABHPBKE_00097 |
80590 |
16 |
Gut |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1614C>A |
Asn538Lys |
M0148612 |
GABHPBKE_00097 |
80622 |
17 |
Gut |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1646C>A |
Thr549Asn |
M0148613 |
GABHPBKE_00053 |
43689 |
14 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2612C>T |
None |
M0148614 |
GABHPBKE_00070 |
51375 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
930T>C |
Asp310Asp |
M0148615 |
GABHPBKE_00070 |
51497 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
808A>G |
Lys270Glu |
M0148616 |
GABHPBKE_00016 |
12888 |
8 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
17G>A |
Gly6Glu |
M0148617 |
GABHPBKE_00012 |
15320 |
15 |
Gut |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4340A>C |
None |
M0148618 |
GABHPBKE_00019 |
13889 |
9 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
93C>T |
Ile31Ile |
M0148619 |
GABHPBKE_00020 |
14287 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
222C>T |
Leu74Leu |
M0148620 |
GABHPBKE_00020 |
14324 |
8 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
185A>G |
Asp62Gly |
M0148621 |
GABHPBKE_00020 |
14389 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
120T>C |
Tyr40Tyr |
M0148622 |
GABHPBKE_00021 |
14697 |
9 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
153A>G |
Arg51Arg |
M0148623 |
GABHPBKE_00012 |
15300 |
11 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4320C>T |
None |
M0148624 |
GABHPBKE_00012 |
15312 |
6 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4332G>A |
None |
M0148625 |
GABHPBKE_00012 |
15317 |
12 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4337G>A |
None |
M0148626 |
GABHPBKE_00012 |
15354 |
10 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4374A>G |
None |
M0148627 |
GABHPBKE_00079 |
60160 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
345G>A |
Glu115Glu |
M0148628 |
GABHPBKE_00079 |
60262 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
243C>A |
Ser81Arg |
M0148629 |
GABHPBKE_00029 |
18724 |
11 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
205C>A |
His69Asn |
M0148630 |
GABHPBKE_00097 |
79102 |
9 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
126G>C |
Ala42Ala |
M0148631 |
GABHPBKE_00097 |
79114 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
138T>C |
Asn46Asn |
M0148632 |
GABHPBKE_00097 |
79118 |
9 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
142A>G |
Ile48Val |
M0148633 |
GABHPBKE_00097 |
79119 |
9 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
143T>C |
Ile48Thr |
M0148634 |
GABHPBKE_00097 |
79134 |
9 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
158T>C |
Val53Ala |
M0148635 |
GABHPBKE_00097 |
79261 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
285T>C |
Thr95Thr |
M0148636 |
GABHPBKE_00097 |
79295 |
8 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
319A>G |
Asn107Asp |
M0148637 |
GABHPBKE_00097 |
79345 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
369G>A |
Pro123Pro |
M0148638 |
GABHPBKE_00097 |
79420 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
444G>A |
Gly148Gly |
M0148639 |
GABHPBKE_00097 |
79438 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
462C>T |
Gly154Gly |
M0148640 |
GABHPBKE_00097 |
80653 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1677C>A |
Asn559Lys |
M0148641 |
GABHPBKE_00041 |
27904 |
16 |
Gut |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1863T>C |
Leu621Leu |
M0148642 |
GABHPBKE_00060 |
45740 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
318T>C |
Asn106Asn |
M0148643 |
GABHPBKE_00060 |
45920 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
138G>C |
Gln46His |
M0148644 |
GABHPBKE_00060 |
45944 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
114C>T |
Thr38Thr |
M0148645 |
GABHPBKE_00020 |
14187 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
322G>A |
Gly108Ser |
M0148646 |
GABHPBKE_00052 |
38110 |
10 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
63T>C |
Ser21Ser |
M0148647 |
GABHPBKE_00053 |
38303 |
10 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2775A>G |
Glu925Glu |
M0148648 |
GABHPBKE_00053 |
38720 |
10 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2358G>A |
Pro786Pro |
M0148649 |
GABHPBKE_00053 |
39089 |
14 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1989A>G |
Lys663Lys |
M0148650 |
GABHPBKE_00053 |
39271 |
12 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1807A>G |
Met603Val |
M0148651 |
GABHPBKE_00053 |
39323 |
11 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1755G>A |
Lys585Lys |
M0148652 |
GABHPBKE_00053 |
39473 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1605C>T |
Cys535Cys |
M0148653 |
GABHPBKE_00053 |
39644 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1434C>T |
Arg478Arg |
M0148654 |
GABHPBKE_00053 |
39995 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1083C>T |
Asn361Asn |
M0148655 |
GABHPBKE_00053 |
40187 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
891G>A |
Ser297Ser |
M0148656 |
GABHPBKE_00053 |
40193 |
10 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
885T>C |
Gly295Gly |
M0148657 |
GABHPBKE_00053 |
40526 |
14 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
552C>T |
His184His |
M0148658 |
GABHPBKE_00053 |
40967 |
14 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
111T>C |
Phe37Phe |
M0148659 |
GABHPBKE_00054 |
41297 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
138T>C |
Ile46Ile |
M0148660 |
GABHPBKE_00054 |
41381 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
54T>C |
Tyr18Tyr |
M0148661 |
GABHPBKE_00055 |
41537 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
261A>C |
Pro87Pro |
M0148662 |
GABHPBKE_00055 |
41573 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
225C>T |
Tyr75Tyr |
M0148663 |
GABHPBKE_00055 |
41679 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
119A>G |
Glu40Gly |
M0148664 |
GABHPBKE_00055 |
41717 |
9 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
81A>C |
Ala27Ala |
M0148665 |
GABHPBKE_00055 |
41735 |
11 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
63T>C |
Phe21Phe |
M0148666 |
GABHPBKE_00057 |
42264 |
12 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
340T>A |
Cys114Ser |
M0148667 |
GABHPBKE_00057 |
42296 |
10 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
308T>A |
Phe103Tyr |
M0148668 |
GABHPBKE_00057 |
42313 |
9 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
291C>T |
Asp97Asp |
M0148669 |
GABHPBKE_00057 |
42375 |
10 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
229G>C |
Ala77Pro |
M0148670 |
GABHPBKE_00057 |
42391 |
10 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
213A>G |
Lys71Lys |
M0148671 |
GABHPBKE_00057 |
42408 |
11 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
196T>C |
Phe66Leu |
M0148672 |
GABHPBKE_00051 |
42752 |
7 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4807C>T |
None |
M0148673 |
GABHPBKE_00051 |
42753 |
7 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4808T>C |
None |
M0148674 |
GABHPBKE_00058 |
43153 |
10 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
353T>C |
Ile118Thr |
M0148675 |
GABHPBKE_00059 |
43961 |
10 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
920G>C |
Cys307Ser |
M0148676 |
GABHPBKE_00059 |
43969 |
10 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
912T>C |
Leu304Leu |
M0148677 |
GABHPBKE_00059 |
44113 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
768G>A |
Glu256Glu |
M0148678 |
GABHPBKE_00059 |
44436 |
10 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
445A>G |
Asn149Asp |
M0148679 |
GABHPBKE_00059 |
44455 |
10 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
426C>T |
Asp142Asp |
M0148680 |
GABHPBKE_00059 |
44653 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
228A>G |
Arg76Arg |
M0148681 |
GABHPBKE_00059 |
44661 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
220T>C |
Leu74Leu |
M0148682 |
GABHPBKE_00059 |
44671 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
210A>G |
Glu70Glu |
M0148683 |
GABHPBKE_00059 |
44719 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
162C>T |
Gly54Gly |
M0148684 |
GABHPBKE_00059 |
44728 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
153T>C |
Asp51Asp |
M0148685 |
GABHPBKE_00053 |
44961 |
6 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3884A>C |
None |
M0148686 |
GABHPBKE_00053 |
45148 |
9 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4071T>C |
None |
M0148687 |
GABHPBKE_00053 |
45215 |
9 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4138G>A |
None |
M0148688 |
GABHPBKE_00053 |
45220 |
10 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4143T>C |
None |
M0148689 |
GABHPBKE_00053 |
45224 |
8 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4147C>T |
None |
M0148690 |
GABHPBKE_00053 |
45234 |
9 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4157C>A |
None |
M0148691 |
GABHPBKE_00053 |
45235 |
10 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4158A>G |
None |
M0148692 |
GABHPBKE_00053 |
45320 |
11 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4243G>A |
None |
M0148693 |
GABHPBKE_00053 |
45341 |
8 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4264C>T |
None |
M0148694 |
GABHPBKE_00053 |
45360 |
11 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4283G>A |
None |
M0148695 |
GABHPBKE_00053 |
45431 |
7 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4354T>C |
None |
M0148696 |
GABHPBKE_00053 |
45503 |
10 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4426A>G |
None |
M0148697 |
GABHPBKE_00060 |
45914 |
9 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
144C>T |
Ile48Ile |
M0148698 |
GABHPBKE_00060 |
45932 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
126T>A |
Pro42Pro |
M0148699 |
GABHPBKE_00061 |
46146 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
51T>C |
Ser17Ser |
M0148700 |
GABHPBKE_00062 |
46282 |
13 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
478A>G |
Met160Val |
M0148701 |
GABHPBKE_00062 |
46295 |
9 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
465T>C |
Gly155Gly |
M0148702 |
GABHPBKE_00062 |
46339 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
421T>A |
Tyr141Asn |
M0148703 |
GABHPBKE_00062 |
46347 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
413C>T |
Thr138Ile |
M0148704 |
GABHPBKE_00062 |
46348 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
412A>G |
Thr138Ala |
M0148705 |
GABHPBKE_00062 |
46610 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
150C>T |
Asp50Asp |
M0148706 |
GABHPBKE_00063 |
47330 |
11 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
216G>A |
Met72Ile |
M0148707 |
GABHPBKE_00063 |
47458 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
344A>G |
Gln115Arg |
M0148708 |
GABHPBKE_00064 |
47608 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
111C>T |
Ser37Ser |
M0148709 |
GABHPBKE_00064 |
47645 |
12 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
148G>A |
Glu50Lys |
M0148710 |
GABHPBKE_00060 |
50178 |
21 |
Gut |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4121A>G |
None |
M0148711 |
GABHPBKE_00015 |
12720 |
10 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
91A>G |
Thr31Ala |
M0148712 |
GABHPBKE_00016 |
13171 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
300T>C |
Phe100Phe |
M0148713 |
GABHPBKE_00017 |
13218 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
30T>C |
Thr10Thr |
M0148714 |
GABHPBKE_00017 |
13280 |
8 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
92A>G |
Gln31Arg |
M0148715 |
GABHPBKE_00017 |
13290 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
102T>C |
Thr34Thr |
M0148716 |
GABHPBKE_00017 |
13291 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
103A>G |
Asn35Asp |
M0148717 |
GABHPBKE_00017 |
13308 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
120C>T |
Tyr40Tyr |
M0148718 |
GABHPBKE_00017 |
13365 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
177C>T |
Asn59Asn |
M0148719 |
GABHPBKE_00012 |
13432 |
7 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2452C>T |
None |
M0148720 |
GABHPBKE_00018 |
13557 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
42C>T |
Thr14Thr |
M0148721 |
GABHPBKE_00018 |
13560 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
45C>T |
Gly15Gly |
M0148722 |
GABHPBKE_00018 |
13563 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
48C>T |
Ile16Ile |
M0148723 |
GABHPBKE_00018 |
13567 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
52G>A |
Gly18Ser |
M0148724 |
GABHPBKE_00018 |
13605 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
90C>T |
Asn30Asn |
M0148725 |
GABHPBKE_00018 |
13614 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
99G>A |
Lys33Lys |
M0148726 |
GABHPBKE_00018 |
13626 |
9 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
111C>T |
Gly37Gly |
M0148727 |
GABHPBKE_00018 |
13665 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
150C>T |
Phe50Phe |
M0148728 |
GABHPBKE_00018 |
13716 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
201T>C |
Thr67Thr |
M0148729 |
GABHPBKE_00018 |
13728 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
213T>C |
Ile71Ile |
M0148730 |
GABHPBKE_00018 |
13748 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
233C>T |
Ala78Val |
M0148731 |
GABHPBKE_00018 |
13758 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
243G>A |
Pro81Pro |
M0148732 |
GABHPBKE_00018 |
13764 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
249C>A |
Asp83Glu |
M0148733 |
GABHPBKE_00019 |
13814 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
18A>G |
Arg6Arg |
M0148734 |
GABHPBKE_00019 |
13815 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
19T>C |
Leu7Leu |
M0148735 |
GABHPBKE_00012 |
14514 |
7 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3534G>A |
None |
M0148736 |
GABHPBKE_00041 |
29304 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
463A>G |
Thr155Ala |
M0148737 |
GABHPBKE_00043 |
30526 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
807C>A |
Gly269Gly |
M0148738 |
GABHPBKE_00043 |
31097 |
10 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
236G>A |
Ser79Asn |
M0148739 |
GABHPBKE_00044 |
31397 |
9 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
125T>C |
Ile42Thr |
M0148740 |
GABHPBKE_00044 |
31476 |
10 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
46T>A |
Cys16Ser |
M0148741 |
GABHPBKE_00045 |
31734 |
8 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1279C>G |
Gln427Glu |
M0148742 |
GABHPBKE_00045 |
32053 |
11 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
960G>A |
Glu320Glu |
M0148743 |
GABHPBKE_00045 |
32305 |
10 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
708T>C |
Asp236Asp |
M0148744 |
GABHPBKE_00045 |
32518 |
9 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
495A>C |
Leu165Phe |
M0148745 |
GABHPBKE_00045 |
32568 |
9 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
445A>G |
Ile149Val |
M0148746 |
GABHPBKE_00041 |
28624 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1143A>G |
Ser381Ser |
M0148747 |
GABHPBKE_00046 |
33207 |
11 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
915T>C |
Ile305Ile |
M0148748 |
GABHPBKE_00048 |
34914 |
12 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
685A>G |
Thr229Ala |
M0148749 |
GABHPBKE_00050 |
36498 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
846A>G |
Leu282Leu |
M0148750 |
GABHPBKE_00050 |
36600 |
11 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
744T>C |
Asn248Asn |
M0148751 |
GABHPBKE_00050 |
37116 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
228A>G |
Leu76Leu |
M0148752 |
GABHPBKE_00005 |
4649 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
378C>T |
Asn126Asn |
M0148753 |
GABHPBKE_00005 |
4688 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
339G>A |
Arg113Arg |
M0148754 |
GABHPBKE_00005 |
4951 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
76G>A |
Val26Ile |
M0148755 |
GABHPBKE_00003 |
5084 |
6 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-931C>T |
None |
M0148756 |
GABHPBKE_00003 |
5099 |
6 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-946T>C |
None |
M0148757 |
GABHPBKE_00003 |
5177 |
6 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1024T>A |
None |
M0148758 |
GABHPBKE_00003 |
5179 |
6 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1026A>G |
None |
M0148759 |
GABHPBKE_00003 |
5195 |
6 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1042G>A |
None |
M0148760 |
GABHPBKE_00003 |
5243 |
6 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1090C>T |
None |
M0148761 |
GABHPBKE_00006 |
5453 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
318T>C |
Gly106Gly |
M0148762 |
GABHPBKE_00006 |
5484 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
287C>T |
Ser96Phe |
M0148763 |
GABHPBKE_00006 |
5485 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
286T>C |
Ser96Pro |
M0148764 |
GABHPBKE_00006 |
5538 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
233A>G |
Asp78Gly |
M0148765 |
GABHPBKE_00020 |
18572 |
12 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4064G>T |
None |
M0148766 |
GABHPBKE_00020 |
18577 |
12 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4069T>C |
None |
M0148767 |
GABHPBKE_00048 |
34594 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1005C>T |
Ile335Ile |
M0148768 |
GABHPBKE_00048 |
34773 |
10 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
826G>A |
Val276Ile |
M0148769 |
GABHPBKE_00049 |
36014 |
11 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
270A>G |
Glu90Glu |
M0148770 |
GABHPBKE_00050 |
36546 |
9 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
798A>G |
Val266Val |
M0148771 |
GABHPBKE_00050 |
36606 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
738C>T |
Ile246Ile |
M0148772 |
GABHPBKE_00052 |
37974 |
12 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
199T>C |
Leu67Leu |
M0148773 |
GABHPBKE_00052 |
37985 |
12 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
188C>T |
Ala63Val |
M0148774 |
GABHPBKE_00053 |
39107 |
10 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1971C>T |
Ser657Ser |
M0148775 |
GABHPBKE_00043 |
31060 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
273G>A |
Pro91Pro |
M0148776 |
GABHPBKE_00046 |
33794 |
9 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
328A>G |
Ser110Gly |
M0148777 |
GABHPBKE_00048 |
34738 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
861G>A |
Val287Val |
M0148778 |
GABHPBKE_00048 |
34955 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
644G>A |
Arg215His |
M0148779 |
GABHPBKE_00050 |
36925 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
419A>G |
Asn140Ser |
M0148780 |
GABHPBKE_00065 |
48072 |
10 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
303A>G |
Leu101Leu |
M0148781 |
GABHPBKE_00069 |
50725 |
9 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
225G>A |
Leu75Leu |
M0148782 |
GABHPBKE_00056 |
46914 |
8 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4908C>T |
None |
M0148783 |
GABHPBKE_00073 |
55700 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
7T>A |
Phe3Ile |
M0148784 |
GABHPBKE_00069 |
55709 |
8 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4760C>T |
None |
M0148785 |
GABHPBKE_00041 |
27997 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1770A>G |
Leu590Leu |
M0148786 |
GABHPBKE_00041 |
28001 |
9 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1766G>A |
Arg589Lys |
M0148787 |
GABHPBKE_00062 |
46690 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
70T>C |
Leu24Leu |
M0148788 |
GABHPBKE_00062 |
46691 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
69A>G |
Thr23Thr |
M0148789 |
GABHPBKE_00062 |
46700 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
60A>G |
Gly20Gly |
M0148790 |
GABHPBKE_00065 |
48048 |
9 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
279C>T |
Tyr93Tyr |
M0148791 |
GABHPBKE_00045 |
32784 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
229A>G |
Asn77Asp |
M0148792 |
GABHPBKE_00048 |
35341 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
258A>G |
Gln86Gln |
M0148793 |
GABHPBKE_00048 |
35466 |
8 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
133A>G |
Thr45Ala |
M0148794 |
GABHPBKE_00050 |
36725 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
619T>C |
Leu207Leu |
M0148795 |
GABHPBKE_00036 |
23288 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
738A>G |
Arg246Arg |
M0148796 |
GABHPBKE_00037 |
24752 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
40A>G |
Thr14Ala |
M0148797 |
GABHPBKE_00038 |
25618 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
253A>T |
Thr85Ser |
M0148798 |
GABHPBKE_00038 |
25709 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
162T>C |
Thr54Thr |
M0148799 |
GABHPBKE_00097 |
79150 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
174A>G |
Pro58Pro |
M0148800 |
GABHPBKE_00097 |
79152 |
8 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
176C>T |
Ala59Val |
M0148801 |
GABHPBKE_00097 |
79211 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
235A>G |
Thr79Ala |
M0148802 |
GABHPBKE_00097 |
79213 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
237G>A |
Thr79Thr |
M0148803 |
GABHPBKE_00097 |
79217 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
241A>G |
Asn81Asp |
M0148804 |
GABHPBKE_00066 |
49382 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
457A>C |
Ile153Leu |
M0148805 |
GABHPBKE_00050 |
36804 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
540A>G |
Val180Val |
M0148806 |
GABHPBKE_00058 |
43454 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
52G>A |
Ala18Thr |
M0148807 |
GABHPBKE_00059 |
44629 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
252T>C |
Asp84Asp |
M0148808 |
GABHPBKE_00012 |
15507 |
9 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4527A>G |
None |
M0148809 |
GABHPBKE_00012 |
15511 |
9 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4531T>A |
None |
M0148810 |
GABHPBKE_00012 |
15512 |
9 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4532C>A |
None |
M0148811 |
GABHPBKE_00012 |
15535 |
7 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4555T>C |
None |
M0148812 |
GABHPBKE_00025 |
17084 |
14 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
320A>G |
Glu107Gly |
M0148813 |
GABHPBKE_00036 |
23033 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
483C>T |
Ala161Ala |
M0148814 |
GABHPBKE_00051 |
37535 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
411A>G |
Ser137Ser |
M0148815 |
GABHPBKE_00065 |
47934 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
165C>T |
Tyr55Tyr |
M0148816 |
GABHPBKE_00065 |
47937 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
168T>G |
Gly56Gly |
M0148817 |
GABHPBKE_00065 |
47938 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
169C>T |
Leu57Leu |
M0148818 |
GABHPBKE_00065 |
47954 |
8 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
185G>A |
Arg62Lys |
M0148819 |
GABHPBKE_00065 |
47961 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
192A>T |
Gly64Gly |
M0148820 |
GABHPBKE_00065 |
47963 |
8 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
194G>T |
Gly65Val |
M0148821 |
GABHPBKE_00065 |
47976 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
207G>A |
Thr69Thr |
M0148822 |
GABHPBKE_00065 |
47986 |
8 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
217G>T |
Ala73Ser |
M0148823 |
GABHPBKE_00065 |
48009 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
240C>T |
Phe80Phe |
M0148824 |
GABHPBKE_00065 |
48024 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
255G>A |
Lys85Lys |
M0148825 |
GABHPBKE_00065 |
48156 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
387G>T |
Gly129Gly |
M0148826 |
GABHPBKE_00065 |
48717 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
948T>C |
Ile316Ile |
M0148827 |
GABHPBKE_00066 |
49189 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
264T>C |
Phe88Phe |
M0148828 |
GABHPBKE_00066 |
49276 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
351C>T |
Asp117Asp |
M0148829 |
GABHPBKE_00066 |
49356 |
7 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
431C>T |
Ser144Phe |
M0148830 |
GABHPBKE_00066 |
49717 |
10 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
792T>G |
Leu264Leu |
M0148831 |
GABHPBKE_00036 |
24182 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1632A>G |
Pro544Pro |
M0148832 |
GABHPBKE_00052 |
38136 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
37A>G |
Ser13Gly |
M0148833 |
GABHPBKE_00053 |
38651 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2427A>G |
Glu809Glu |
M0148834 |
GABHPBKE_00053 |
38663 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
2415A>G |
Gly805Gly |
M0148835 |
GABHPBKE_00053 |
39260 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1818C>T |
Ile606Ile |
M0148836 |
GABHPBKE_00065 |
47940 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
171G>A |
Leu57Leu |
M0148837 |
GABHPBKE_00029 |
18674 |
7 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
255C>T |
Asn85Asn |
M0148838 |
GABHPBKE_00029 |
18694 |
10 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
235C>T |
Pro79Ser |
M0148839 |
GABHPBKE_00029 |
18750 |
11 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
179A>G |
Gln60Arg |
M0148840 |
GABHPBKE_00029 |
18767 |
10 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
162G>T |
Arg54Ser |
M0148841 |
GABHPBKE_00029 |
18769 |
10 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
160A>G |
Arg54Gly |
M0148842 |
GABHPBKE_00046 |
33321 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
801T>C |
Phe267Phe |
M0148843 |
GABHPBKE_00068 |
52978 |
18 |
Gut |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2870G>A |
None |
M0148844 |
GABHPBKE_00074 |
55935 |
6 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
139G>A |
Ala47Thr |
M0148845 |
GABHPBKE_00070 |
55951 |
6 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3647A>G |
None |
M0148846 |
GABHPBKE_00070 |
55960 |
6 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3656C>T |
None |
M0148847 |
GABHPBKE_00073 |
60547 |
6 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4841G>A |
None |
M0148848 |
GABHPBKE_00097 |
79066 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
90A>G |
Pro30Pro |
M0148849 |
GABHPBKE_00097 |
80678 |
6 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1702T>C |
Leu568Leu |
M0148850 |
GABHPBKE_00097 |
80679 |
6 |
Gut |
0.01 |
protein_coding |
stop_gained |
HIGH |
1703T>A |
Leu568* |
M0148851 |
GABHPBKE_00094 |
80684 |
6 |
Gut |
0.01 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4313A>G |
None |
M0148852 |
GABHPBKE_00012 |
15770 |
6 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4790T>A |
None |
M0148853 |
GABHPBKE_00012 |
15786 |
6 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4806T>G |
None |
M0148854 |
GABHPBKE_00012 |
15790 |
6 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4810T>A |
None |
M0148855 |
GABHPBKE_00012 |
15793 |
6 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4813G>A |
None |
M0148856 |
GABHPBKE_00012 |
14102 |
6 |
Gut |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3122G>C |
None |
M0148857 |
GABHPBKE_00023 |
16048 |
10 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
99A>G |
Ser33Ser |
M0148858 |
GABHPBKE_00023 |
16090 |
10 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
141C>T |
Asp47Asp |
M0148859 |
GABHPBKE_00024 |
16504 |
9 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
19A>G |
Met7Val |
M0148860 |
GABHPBKE_00025 |
16838 |
10 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
74A>G |
Asp25Gly |
M0148861 |
GABHPBKE_00025 |
16844 |
10 |
Gut |
0.02 |
protein_coding |
stop_gained |
HIGH |
80T>A |
Leu27* |
M0148862 |
GABHPBKE_00025 |
17105 |
10 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
341A>T |
Gln114Leu |
M0148863 |
GABHPBKE_00025 |
17149 |
10 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
385T>C |
Ser129Pro |
M0148864 |
GABHPBKE_00025 |
17248 |
9 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
484C>A |
Leu162Met |
M0148865 |
GABHPBKE_00025 |
17267 |
9 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
503C>A |
Pro168His |
M0148866 |
GABHPBKE_00025 |
17268 |
9 |
Gut |
0.02 |
protein_coding |
synonymous_variant |
LOW |
504C>T |
Pro168Pro |
M0148867 |
GABHPBKE_00025 |
17333 |
11 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
569A>T |
Gln190Leu |
M0148868 |
GABHPBKE_00025 |
17401 |
12 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
637A>G |
Lys213Glu |
M0148869 |
GABHPBKE_00025 |
17453 |
10 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
689G>A |
Ser230Asn |
M0148870 |
GABHPBKE_00027 |
17857 |
10 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
15T>A |
Phe5Leu |
M0148871 |
GABHPBKE_00027 |
17921 |
9 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
79A>G |
Asn27Asp |
M0148872 |
GABHPBKE_00027 |
17968 |
8 |
Gut |
0.01 |
protein_coding |
synonymous_variant |
LOW |
126G>A |
Gly42Gly |
M0148873 |
GABHPBKE_00020 |
18108 |
10 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3600G>A |
None |
M0148874 |
GABHPBKE_00020 |
18147 |
10 |
Gut |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3639G>A |
None |
M0148875 |
GABHPBKE_00028 |
18353 |
8 |
Gut |
0.01 |
protein_coding |
missense_variant |
MODERATE |
40A>C |
Met14Leu |
M0148876 |
GABHPBKE_00069 |
50837 |
9 |
Gut |
0.02 |
protein_coding |
missense_variant |
MODERATE |
113A>C |
Asn38Thr |
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 |