Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C710 |
Reference Plasmid |
NZ_CP050250.1 |
Reference Plasmid Size |
197269 |
Reference Plasmid GC Content |
0.62 |
Reference Plasmid Mobility Type |
non-mobilizable |
Mutation sites in the plasmid cluster
The table lists mutations identified in the plasmid cluster.
Note: Mutations identified in this plasmid cluster are listed below. Click on a mutation ID to view full details..
mutid |
gname |
pos |
count |
tissue |
frequnt |
biotype |
consequence |
impact |
nucchange |
aachange |
M0099075 |
NKBEPIEI_00016 |
22779 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2401G>A |
None |
M0099076 |
NKBEPIEI_00016 |
22830 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2452T>C |
None |
M0099077 |
NKBEPIEI_00016 |
22986 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2608C>G |
None |
M0099078 |
NKBEPIEI_00016 |
23010 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2632G>A |
None |
M0099079 |
NKBEPIEI_00021 |
23087 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
46G>A |
Ala16Thr |
M0099080 |
NKBEPIEI_00021 |
23149 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
108T>C |
Asp36Asp |
M0099081 |
NKBEPIEI_00021 |
23200 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
159G>A |
Ser53Ser |
M0099082 |
NKBEPIEI_00021 |
23230 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
189T>C |
Leu63Leu |
M0099083 |
NKBEPIEI_00021 |
23233 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
192G>C |
Ala64Ala |
M0099084 |
NKBEPIEI_00021 |
23323 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
282C>G |
Val94Val |
M0099085 |
NKBEPIEI_00016 |
23404 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3026G>C |
None |
M0099086 |
NKBEPIEI_00022 |
23459 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
15C>T |
Ser5Ser |
M0099087 |
NKBEPIEI_00022 |
23462 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
18C>T |
Ile6Ile |
M0099088 |
NKBEPIEI_00022 |
23489 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
45T>G |
Leu15Leu |
M0099089 |
NKBEPIEI_00022 |
23522 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
78G>A |
Val26Val |
M0099090 |
NKBEPIEI_00022 |
23640 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
196A>G |
Ile66Val |
M0099091 |
NKBEPIEI_00023 |
23820 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
90A>G |
Leu30Leu |
M0099092 |
NKBEPIEI_00023 |
23821 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
91G>C |
Val31Leu |
M0099093 |
NKBEPIEI_00023 |
23901 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
171G>C |
Leu57Leu |
M0099094 |
NKBEPIEI_00023 |
24165 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
435G>C |
Leu145Leu |
M0099095 |
NKBEPIEI_00023 |
24168 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
438C>T |
His146His |
M0099096 |
NKBEPIEI_00023 |
24198 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
468A>C |
Arg156Arg |
M0099097 |
NKBEPIEI_00023 |
24201 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
471G>A |
Glu157Glu |
M0099098 |
NKBEPIEI_00023 |
24276 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
546G>A |
Lys182Lys |
M0099099 |
NKBEPIEI_00024 |
24338 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
48T>C |
Leu16Leu |
M0099100 |
NKBEPIEI_00024 |
24341 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
51C>T |
Ala17Ala |
M0099101 |
NKBEPIEI_00024 |
24350 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
60C>T |
Ile20Ile |
M0099102 |
NKBEPIEI_00024 |
24359 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
69T>G |
His23Gln |
M0099103 |
NKBEPIEI_00024 |
24363 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
73T>C |
Leu25Leu |
M0099104 |
NKBEPIEI_00024 |
24365 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
75G>T |
Leu25Phe |
M0099105 |
NKBEPIEI_00024 |
24369 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
79C>T |
Leu27Leu |
M0099106 |
NKBEPIEI_00024 |
24393 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
103A>G |
Ser35Gly |
M0099107 |
NKBEPIEI_00024 |
24605 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
315T>G |
Leu105Leu |
M0099108 |
NKBEPIEI_00024 |
25073 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
783T>C |
Val261Val |
M0099109 |
NKBEPIEI_00025 |
25293 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
197G>A |
Gly66Glu |
M0099110 |
NKBEPIEI_00025 |
25759 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
663G>C |
Thr221Thr |
M0099111 |
NKBEPIEI_00025 |
25909 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
813G>A |
Gly271Gly |
M0099112 |
NKBEPIEI_00025 |
25963 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
867C>G |
Gly289Gly |
M0099113 |
NKBEPIEI_00025 |
26068 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
972T>C |
Gly324Gly |
M0099114 |
NKBEPIEI_00025 |
26089 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
993T>C |
Gly331Gly |
M0099115 |
NKBEPIEI_00026 |
26495 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
96C>A |
Ala32Ala |
M0099116 |
NKBEPIEI_00026 |
26516 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
117T>C |
Ile39Ile |
M0099117 |
NKBEPIEI_00026 |
26526 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
127T>C |
Leu43Leu |
M0099118 |
NKBEPIEI_00026 |
26549 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
150C>A |
Thr50Thr |
M0099119 |
NKBEPIEI_00026 |
26663 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
264T>C |
Tyr88Tyr |
M0099120 |
NKBEPIEI_00026 |
26802 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
403G>A |
Ala135Thr |
M0099121 |
NKBEPIEI_00026 |
26923 |
8 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
524G>A |
Arg175Gln |
M0099122 |
NKBEPIEI_00026 |
26969 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
570T>C |
Arg190Arg |
M0099123 |
NKBEPIEI_00026 |
27044 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
645C>T |
Thr215Thr |
M0099124 |
NKBEPIEI_00026 |
27083 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
684G>C |
Ser228Ser |
M0099125 |
NKBEPIEI_00028 |
28639 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
726G>C |
Thr242Thr |
M0099126 |
NKBEPIEI_00028 |
28642 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
729G>C |
Gly243Gly |
M0099127 |
NKBEPIEI_00028 |
28645 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
732G>A |
Ala244Ala |
M0099128 |
NKBEPIEI_00028 |
28654 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
741A>G |
Ser247Ser |
M0099129 |
NKBEPIEI_00028 |
28711 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
798C>G |
Ala266Ala |
M0099130 |
NKBEPIEI_00028 |
28741 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
828C>T |
Pro276Pro |
M0099131 |
NKBEPIEI_00028 |
28756 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
843G>A |
Lys281Lys |
M0099132 |
NKBEPIEI_00028 |
28762 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
849T>C |
Ile283Ile |
M0099133 |
NKBEPIEI_00028 |
28768 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
855T>C |
Asp285Asp |
M0099134 |
NKBEPIEI_00028 |
28861 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
948G>A |
Gly316Gly |
M0099135 |
NKBEPIEI_00028 |
28873 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
960A>G |
Ala320Ala |
M0099136 |
NKBEPIEI_00028 |
28882 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
969G>A |
Thr323Thr |
M0099137 |
NKBEPIEI_00028 |
28891 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
978A>C |
Ala326Ala |
M0099138 |
NKBEPIEI_00028 |
28915 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1002C>T |
Val334Val |
M0099139 |
NKBEPIEI_00028 |
28922 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1009C>T |
Leu337Leu |
M0099140 |
NKBEPIEI_00028 |
28933 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1020G>A |
Glu340Glu |
M0099141 |
NKBEPIEI_00028 |
28948 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1035A>G |
Gln345Gln |
M0099142 |
NKBEPIEI_00028 |
28960 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1047C>T |
Asp349Asp |
M0099143 |
NKBEPIEI_00028 |
29017 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1104G>A |
Ala368Ala |
M0099144 |
NKBEPIEI_00028 |
29041 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1128T>C |
Cys376Cys |
M0099145 |
NKBEPIEI_00028 |
29123 |
8 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1210T>G |
Ser404Ala |
M0099146 |
NKBEPIEI_00028 |
29140 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1227G>C |
Leu409Leu |
M0099147 |
NKBEPIEI_00028 |
29143 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1230T>C |
Leu410Leu |
M0099148 |
NKBEPIEI_00028 |
29170 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1257G>A |
Lys419Lys |
M0099149 |
NKBEPIEI_00028 |
29233 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1320G>A |
Gly440Gly |
M0099150 |
NKBEPIEI_00028 |
29287 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1374G>A |
Gln458Gln |
M0099151 |
NKBEPIEI_00028 |
29290 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1377A>G |
Pro459Pro |
M0099152 |
NKBEPIEI_00028 |
29344 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1431T>A |
Ala477Ala |
M0099153 |
NKBEPIEI_00028 |
29389 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1476C>A |
Thr492Thr |
M0099154 |
NKBEPIEI_00028 |
29473 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1560C>A |
Gly520Gly |
M0099155 |
NKBEPIEI_00028 |
29548 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1635C>G |
Arg545Arg |
M0099156 |
NKBEPIEI_00028 |
29614 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1701T>C |
Arg567Arg |
M0099157 |
NKBEPIEI_00028 |
29617 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1704C>T |
Asn568Asn |
M0099158 |
NKBEPIEI_00028 |
29622 |
8 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1709A>C |
Asn570Thr |
M0099159 |
NKBEPIEI_00028 |
29689 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1776C>T |
Gly592Gly |
M0099160 |
NKBEPIEI_00028 |
29701 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1788A>T |
Thr596Thr |
M0099161 |
NKBEPIEI_00028 |
29710 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1797T>G |
His599Gln |
M0099162 |
NKBEPIEI_00028 |
29713 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1800T>G |
Val600Val |
M0099163 |
NKBEPIEI_00028 |
29736 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1823A>G |
Gln608Arg |
M0099164 |
NKBEPIEI_00028 |
29743 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1830T>G |
Pro610Pro |
M0099165 |
NKBEPIEI_00028 |
29797 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1884C>T |
Phe628Phe |
M0099166 |
NKBEPIEI_00028 |
29824 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1911C>T |
Asn637Asn |
M0099167 |
NKBEPIEI_00028 |
29836 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1923C>T |
Ser641Ser |
M0099168 |
NKBEPIEI_00028 |
29905 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1992T>G |
Thr664Thr |
M0099169 |
NKBEPIEI_00028 |
29917 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2004T>C |
Phe668Phe |
M0099170 |
NKBEPIEI_00028 |
29983 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2070T>C |
Ala690Ala |
M0099171 |
NKBEPIEI_00028 |
30004 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2091T>G |
Gly697Gly |
M0099172 |
NKBEPIEI_00028 |
30154 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2241A>G |
Gln747Gln |
M0099173 |
NKBEPIEI_00028 |
30280 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2367A>G |
Gly789Gly |
M0099174 |
NKBEPIEI_00028 |
29014 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1101T>C |
Ile367Ile |
M0099175 |
NKBEPIEI_00028 |
30157 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2244G>A |
Gln748Gln |
M0099176 |
NKBEPIEI_00028 |
30349 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2436C>T |
Pro812Pro |
M0099177 |
NKBEPIEI_00028 |
30364 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2451G>C |
Arg817Arg |
M0099178 |
NKBEPIEI_00028 |
30367 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2454T>C |
Ile818Ile |
M0099179 |
NKBEPIEI_00028 |
30373 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2460A>T |
Ala820Ala |
M0099180 |
NKBEPIEI_00028 |
30374 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2461A>T |
Asn821Tyr |
M0099181 |
NKBEPIEI_00028 |
30389 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2476A>C |
Met826Leu |
M0099182 |
NKBEPIEI_00028 |
30392 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2479G>C |
Ala827Pro |
M0099183 |
NKBEPIEI_00028 |
30427 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2514T>C |
Pro838Pro |
M0099184 |
NKBEPIEI_00028 |
30430 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2517G>A |
Glu839Glu |
M0099185 |
NKBEPIEI_00028 |
30433 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2520A>C |
Gly840Gly |
M0099186 |
NKBEPIEI_00028 |
30434 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
2521C>T |
His841Tyr |
M0099187 |
NKBEPIEI_00028 |
30442 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2529A>G |
Gln843Gln |
M0099188 |
NKBEPIEI_00028 |
30454 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2541G>A |
Ala847Ala |
M0099189 |
NKBEPIEI_00029 |
30477 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
21A>C |
Ser7Ser |
M0099190 |
NKBEPIEI_00029 |
30514 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
58A>G |
Thr20Ala |
M0099191 |
NKBEPIEI_00029 |
30520 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
64C>T |
Leu22Phe |
M0099192 |
NKBEPIEI_00029 |
30525 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
69T>G |
Val23Val |
M0099193 |
NKBEPIEI_00029 |
30573 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
117C>T |
Leu39Leu |
M0099194 |
NKBEPIEI_00029 |
30576 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
120C>T |
Gly40Gly |
M0099195 |
NKBEPIEI_00029 |
30601 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
145C>T |
Leu49Leu |
M0099196 |
NKBEPIEI_00030 |
30917 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
111G>C |
Arg37Arg |
M0099197 |
NKBEPIEI_00030 |
30993 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
187C>T |
Pro63Ser |
M0099198 |
NKBEPIEI_00030 |
31025 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
219G>A |
Gln73Gln |
M0099199 |
NKBEPIEI_00030 |
31028 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
222G>T |
Leu74Leu |
M0099200 |
NKBEPIEI_00030 |
31037 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
231A>C |
Ile77Ile |
M0099201 |
NKBEPIEI_00030 |
31064 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
258C>A |
Ser86Ser |
M0099202 |
NKBEPIEI_00030 |
31097 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
291C>T |
Arg97Arg |
M0099203 |
NKBEPIEI_00030 |
31226 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
420T>G |
Ala140Ala |
M0099204 |
NKBEPIEI_00030 |
31297 |
8 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
491T>C |
Leu164Pro |
M0099205 |
NKBEPIEI_00030 |
31358 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
552A>G |
Ala184Ala |
M0099206 |
NKBEPIEI_00031 |
31412 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
38T>C |
Val13Ala |
M0099207 |
NKBEPIEI_00031 |
31458 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
84C>A |
Gly28Gly |
M0099208 |
NKBEPIEI_00031 |
31507 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
133T>G |
Ser45Ala |
M0099209 |
NKBEPIEI_00031 |
31524 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
150G>A |
Pro50Pro |
M0099210 |
NKBEPIEI_00031 |
31569 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
195T>C |
Gly65Gly |
M0099211 |
NKBEPIEI_00031 |
31596 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
222C>T |
His74His |
M0099212 |
NKBEPIEI_00031 |
31638 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
264C>T |
Pro88Pro |
M0099213 |
NKBEPIEI_00031 |
31704 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
330C>A |
Val110Val |
M0099214 |
NKBEPIEI_00031 |
31762 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
388G>A |
Ala130Thr |
M0099215 |
NKBEPIEI_00031 |
31763 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
389C>A |
Ala130Glu |
M0099216 |
NKBEPIEI_00031 |
31770 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
396G>T |
Pro132Pro |
M0099217 |
NKBEPIEI_00031 |
31878 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
504A>C |
Gly168Gly |
M0099218 |
NKBEPIEI_00032 |
31901 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-10A>G |
None |
M0099219 |
NKBEPIEI_00032 |
31905 |
8 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-6G>A |
None |
M0099220 |
NKBEPIEI_00032 |
31906 |
8 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-5G>A |
None |
M0099221 |
NKBEPIEI_00032 |
31931 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
21G>T |
Leu7Leu |
M0099222 |
NKBEPIEI_00032 |
31941 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
31A>G |
Thr11Ala |
M0099223 |
NKBEPIEI_00032 |
31979 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
69C>T |
Pro23Pro |
M0099224 |
NKBEPIEI_00032 |
32003 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
93G>A |
Gly31Gly |
M0099225 |
NKBEPIEI_00032 |
32138 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
228G>C |
Val76Val |
M0099226 |
NKBEPIEI_00032 |
32158 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
248C>T |
Ala83Val |
M0099227 |
NKBEPIEI_00032 |
32185 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
275G>T |
Arg92Leu |
M0099228 |
NKBEPIEI_00032 |
32283 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
373G>A |
Ala125Thr |
M0099229 |
NKBEPIEI_00032 |
32284 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
374C>G |
Ala125Gly |
M0099230 |
NKBEPIEI_00032 |
32286 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
376C>T |
Leu126Leu |
M0099231 |
NKBEPIEI_00032 |
32287 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
377T>A |
Leu126Gln |
M0099232 |
NKBEPIEI_00032 |
32288 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
378G>T |
Leu126Leu |
M0099233 |
NKBEPIEI_00032 |
32289 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
379T>A |
Ser127Thr |
M0099234 |
NKBEPIEI_00032 |
32294 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
384C>T |
Gly128Gly |
M0099235 |
NKBEPIEI_00032 |
32297 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
387C>T |
Leu129Leu |
M0099236 |
NKBEPIEI_00032 |
32309 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
399G>C |
Leu133Leu |
M0099237 |
NKBEPIEI_00032 |
32333 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
423A>G |
Pro141Pro |
M0099238 |
NKBEPIEI_00032 |
32370 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
460A>G |
Lys154Glu |
M0099239 |
NKBEPIEI_00032 |
32464 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
554T>C |
Ile185Thr |
M0099240 |
NKBEPIEI_00032 |
32492 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
582G>C |
Pro194Pro |
M0099241 |
NKBEPIEI_00032 |
32525 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
615A>G |
Gln205Gln |
M0099242 |
NKBEPIEI_00033 |
32636 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
73A>G |
Ile25Val |
M0099243 |
NKBEPIEI_00033 |
32638 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
75C>T |
Ile25Ile |
M0099244 |
NKBEPIEI_00033 |
32704 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
141G>A |
Leu47Leu |
M0099245 |
NKBEPIEI_00033 |
32734 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
171T>C |
Gly57Gly |
M0099246 |
NKBEPIEI_00033 |
32755 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
192C>T |
Ile64Ile |
M0099247 |
NKBEPIEI_00034 |
32850 |
8 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
19G>A |
Val7Ile |
M0099248 |
NKBEPIEI_00034 |
32851 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
20T>C |
Val7Ala |
M0099249 |
NKBEPIEI_00034 |
32876 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
45G>A |
Ala15Ala |
M0099250 |
NKBEPIEI_00034 |
32885 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
54G>A |
Ala18Ala |
M0099251 |
NKBEPIEI_00034 |
32914 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
83G>C |
Ser28Thr |
M0099252 |
NKBEPIEI_00034 |
32918 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
87T>G |
Gly29Gly |
M0099253 |
NKBEPIEI_00034 |
32921 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
90G>T |
Pro30Pro |
M0099254 |
NKBEPIEI_00034 |
32939 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
108C>T |
Ser36Ser |
M0099255 |
NKBEPIEI_00034 |
33074 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
243C>T |
Val81Val |
M0099256 |
NKBEPIEI_00034 |
33089 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
258C>T |
Leu86Leu |
M0099257 |
NKBEPIEI_00034 |
33176 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
345C>T |
Asn115Asn |
M0099258 |
NKBEPIEI_00034 |
33182 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
351C>T |
Gly117Gly |
M0099259 |
NKBEPIEI_00034 |
33212 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
381T>C |
Asp127Asp |
M0099260 |
NKBEPIEI_00034 |
33281 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
450T>G |
Leu150Leu |
M0099261 |
NKBEPIEI_00034 |
33320 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
489A>C |
Leu163Leu |
M0099262 |
NKBEPIEI_00034 |
33368 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
537C>T |
Leu179Leu |
M0099263 |
NKBEPIEI_00034 |
33471 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
640G>A |
Ala214Thr |
M0099264 |
NKBEPIEI_00034 |
33635 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
804T>C |
Thr268Thr |
M0099265 |
NKBEPIEI_00034 |
33755 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
924T>C |
Ile308Ile |
M0099266 |
NKBEPIEI_00035 |
33882 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
11C>A |
Thr4Lys |
M0099267 |
NKBEPIEI_00035 |
33889 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
18C>T |
Ala6Ala |
M0099268 |
NKBEPIEI_00035 |
33901 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
30T>A |
Thr10Thr |
M0099269 |
NKBEPIEI_00035 |
34027 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
156G>C |
Ala52Ala |
M0099270 |
NKBEPIEI_00035 |
34028 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
157A>G |
Thr53Ala |
M0099271 |
NKBEPIEI_00035 |
34033 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
162A>G |
Ala54Ala |
M0099272 |
NKBEPIEI_00035 |
34042 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
171G>A |
Glu57Glu |
M0099273 |
NKBEPIEI_00035 |
34047 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
176G>A |
Arg59His |
M0099274 |
NKBEPIEI_00035 |
34063 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
192A>T |
Gln64His |
M0099275 |
NKBEPIEI_00035 |
34123 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
252A>G |
Gly84Gly |
M0099276 |
NKBEPIEI_00035 |
34129 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
258A>G |
Lys86Lys |
M0099277 |
NKBEPIEI_00035 |
34201 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
330C>T |
Leu110Leu |
M0099278 |
NKBEPIEI_00035 |
34207 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
336C>T |
Ile112Ile |
M0099279 |
NKBEPIEI_00035 |
34294 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
423C>T |
Arg141Arg |
M0099280 |
NKBEPIEI_00035 |
34537 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
666T>C |
Thr222Thr |
M0099281 |
NKBEPIEI_00035 |
34592 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
721A>C |
Met241Leu |
M0099282 |
NKBEPIEI_00036 |
34683 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
78A>T |
Ser26Ser |
M0099283 |
NKBEPIEI_00036 |
34716 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
111G>C |
Ala37Ala |
M0099284 |
NKBEPIEI_00036 |
34744 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
139G>A |
Ala47Thr |
M0099285 |
NKBEPIEI_00036 |
34779 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
174C>T |
Pro58Pro |
M0099286 |
NKBEPIEI_00036 |
34983 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
378C>T |
Ala126Ala |
M0099287 |
NKBEPIEI_00036 |
35088 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
483A>G |
Ala161Ala |
M0099288 |
NKBEPIEI_00036 |
35091 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
486A>G |
Pro162Pro |
M0099289 |
NKBEPIEI_00036 |
35232 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
627T>C |
Leu209Leu |
M0099290 |
NKBEPIEI_00036 |
35277 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
672A>G |
Ala224Ala |
M0099291 |
NKBEPIEI_00036 |
35332 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
727A>G |
Ile243Val |
M0099292 |
NKBEPIEI_00036 |
35360 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
755G>A |
Gly252Asp |
M0099293 |
NKBEPIEI_00036 |
35403 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
798T>C |
Gly266Gly |
M0099294 |
NKBEPIEI_00036 |
35593 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
988G>A |
Glu330Lys |
M0099295 |
NKBEPIEI_00036 |
35634 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1029T>G |
Leu343Leu |
M0099296 |
NKBEPIEI_00036 |
35643 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1038T>G |
Asp346Glu |
M0099297 |
NKBEPIEI_00036 |
35646 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1041A>C |
Pro347Pro |
M0099298 |
NKBEPIEI_00036 |
35649 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1044T>C |
Asp348Asp |
M0099299 |
NKBEPIEI_00036 |
35670 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1065C>T |
His355His |
M0099300 |
NKBEPIEI_00036 |
35691 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1086C>T |
Thr362Thr |
M0099301 |
NKBEPIEI_00036 |
35701 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1096A>G |
Thr366Ala |
M0099302 |
NKBEPIEI_00036 |
35715 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1110C>T |
Ala370Ala |
M0099303 |
NKBEPIEI_00036 |
35859 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1254C>G |
Asp418Glu |
M0099304 |
NKBEPIEI_00036 |
35862 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1257A>G |
Gln419Gln |
M0099305 |
NKBEPIEI_00036 |
36039 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1434A>G |
Ser478Ser |
M0099306 |
NKBEPIEI_00036 |
36054 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1449C>A |
Gly483Gly |
M0099307 |
NKBEPIEI_00036 |
36102 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1497T>G |
Leu499Leu |
M0099308 |
NKBEPIEI_00036 |
36105 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1500T>C |
Val500Val |
M0099309 |
NKBEPIEI_00036 |
36117 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1512T>C |
Asn504Asn |
M0099310 |
NKBEPIEI_00036 |
36141 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1536G>C |
Gly512Gly |
M0099311 |
NKBEPIEI_00036 |
36183 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1578T>C |
Phe526Phe |
M0099312 |
NKBEPIEI_00036 |
36305 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1700A>G |
Lys567Arg |
M0099313 |
NKBEPIEI_00037 |
36356 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
12C>A |
Ala4Ala |
M0099314 |
NKBEPIEI_00037 |
36369 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
25T>G |
Phe9Val |
M0099315 |
NKBEPIEI_00037 |
36399 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
55G>C |
Glu19Gln |
M0099316 |
NKBEPIEI_00037 |
36474 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
130G>A |
Val44Ile |
M0099317 |
NKBEPIEI_00037 |
36593 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
249A>G |
Thr83Thr |
M0099318 |
NKBEPIEI_00037 |
36713 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
369A>T |
Gln123His |
M0099319 |
NKBEPIEI_00038 |
36877 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
159A>C |
Arg53Arg |
M0099320 |
NKBEPIEI_00038 |
36900 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
182A>C |
Gln61Pro |
M0099321 |
NKBEPIEI_00038 |
36908 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
190A>G |
Thr64Ala |
M0099322 |
NKBEPIEI_00038 |
37039 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
321C>T |
Leu107Leu |
M0099323 |
NKBEPIEI_00036 |
35400 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
795C>A |
Val265Val |
M0099324 |
NKBEPIEI_00036 |
35856 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1251C>G |
Pro417Pro |
M0099325 |
NKBEPIEI_00204 |
189711 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
177T>C |
Thr59Thr |
M0099326 |
NKBEPIEI_00204 |
189726 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
162G>A |
Ala54Ala |
M0099327 |
NKBEPIEI_00204 |
189737 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
151A>T |
Thr51Ser |
M0099328 |
NKBEPIEI_00204 |
189869 |
8 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
19C>T |
Arg7Cys |
M0099329 |
NKBEPIEI_00204 |
189876 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
12G>A |
Lys4Lys |
M0099330 |
NKBEPIEI_00205 |
190021 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
285G>A |
Ala95Ala |
M0099331 |
NKBEPIEI_00205 |
190057 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
249T>C |
Val83Val |
M0099332 |
NKBEPIEI_00205 |
190163 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
143T>C |
Val48Ala |
M0099333 |
NKBEPIEI_00205 |
190175 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
131A>G |
Asp44Gly |
M0099334 |
NKBEPIEI_00206 |
190949 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
399G>A |
Glu133Glu |
M0099335 |
NKBEPIEI_00206 |
191081 |
14 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
267A>G |
Ala89Ala |
M0099336 |
NKBEPIEI_00206 |
191137 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
211C>A |
Leu71Met |
M0099337 |
NKBEPIEI_00206 |
191174 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
174C>T |
Ile58Ile |
M0099338 |
NKBEPIEI_00206 |
191198 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
150C>A |
Pro50Pro |
M0099339 |
NKBEPIEI_00206 |
191201 |
17 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
147T>A |
Gly49Gly |
M0099340 |
NKBEPIEI_00206 |
191230 |
17 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
118T>C |
Ser40Pro |
M0099341 |
NKBEPIEI_00206 |
191236 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
112T>C |
Phe38Leu |
M0099342 |
NKBEPIEI_00206 |
191238 |
17 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
110C>T |
Pro37Leu |
M0099343 |
NKBEPIEI_00196 |
183965 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
810C>G |
Ala270Ala |
M0099344 |
NKBEPIEI_00196 |
183968 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
807G>A |
Ala269Ala |
M0099345 |
NKBEPIEI_00196 |
183974 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
801T>G |
Leu267Leu |
M0099346 |
NKBEPIEI_00196 |
184129 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
646T>C |
Tyr216His |
M0099347 |
NKBEPIEI_00196 |
184139 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
636C>G |
Thr212Thr |
M0099348 |
NKBEPIEI_00196 |
184267 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
508T>C |
Leu170Leu |
M0099349 |
NKBEPIEI_00197 |
184947 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
566C>A |
Thr189Lys |
M0099350 |
NKBEPIEI_00197 |
184994 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
519T>C |
Val173Val |
M0099351 |
NKBEPIEI_00197 |
185252 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
261C>G |
Phe87Leu |
M0099352 |
NKBEPIEI_00197 |
185259 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
254T>C |
Val85Ala |
M0099353 |
NKBEPIEI_00197 |
185276 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
237A>G |
Gly79Gly |
M0099354 |
NKBEPIEI_00197 |
185300 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
213C>T |
Leu71Leu |
M0099355 |
NKBEPIEI_00197 |
185309 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
204T>C |
Leu68Leu |
M0099356 |
NKBEPIEI_00197 |
185336 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
177T>C |
Ala59Ala |
M0099357 |
NKBEPIEI_00197 |
185344 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
169A>G |
Ser57Gly |
M0099358 |
NKBEPIEI_00197 |
185351 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
162A>G |
Gln54Gln |
M0099359 |
NKBEPIEI_00197 |
185354 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
159G>A |
Leu53Leu |
M0099360 |
NKBEPIEI_00197 |
185358 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
155A>C |
Glu52Ala |
M0099361 |
NKBEPIEI_00198 |
185619 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1228C>G |
Pro410Ala |
M0099362 |
NKBEPIEI_00198 |
185629 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1218A>G |
Val406Val |
M0099363 |
NKBEPIEI_00198 |
185654 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1193A>C |
Asn398Thr |
M0099364 |
NKBEPIEI_00198 |
185665 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1182G>A |
Ala394Ala |
M0099365 |
NKBEPIEI_00198 |
185669 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1178A>G |
Lys393Arg |
M0099366 |
NKBEPIEI_00198 |
185694 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1153G>T |
Ala385Ser |
M0099367 |
NKBEPIEI_00198 |
185716 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1131C>T |
Phe377Phe |
M0099368 |
NKBEPIEI_00198 |
185749 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1098C>T |
Leu366Leu |
M0099369 |
NKBEPIEI_00198 |
185755 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1092T>C |
Ile364Ile |
M0099370 |
NKBEPIEI_00198 |
185781 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1066A>G |
Ile356Val |
M0099371 |
NKBEPIEI_00198 |
185791 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1056C>A |
Pro352Pro |
M0099372 |
NKBEPIEI_00198 |
185806 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1041T>C |
Ile347Ile |
M0099373 |
NKBEPIEI_00198 |
185826 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1021A>C |
Arg341Arg |
M0099374 |
NKBEPIEI_00198 |
185839 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1008G>A |
Arg336Arg |
M0099375 |
NKBEPIEI_00198 |
185847 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1000G>A |
Val334Ile |
M0099376 |
NKBEPIEI_00198 |
185863 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
984G>C |
Leu328Leu |
M0099377 |
NKBEPIEI_00198 |
185877 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
970A>G |
Ile324Val |
M0099378 |
NKBEPIEI_00198 |
185878 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
969A>C |
Glu323Asp |
M0099379 |
NKBEPIEI_00198 |
185881 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
966T>A |
Arg322Arg |
M0099380 |
NKBEPIEI_00198 |
185899 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
948C>A |
Thr316Thr |
M0099381 |
NKBEPIEI_00198 |
185923 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
924C>G |
Phe308Leu |
M0099382 |
NKBEPIEI_00198 |
185929 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
918G>T |
Pro306Pro |
M0099383 |
NKBEPIEI_00198 |
185938 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
909T>C |
Tyr303Tyr |
M0099384 |
NKBEPIEI_00198 |
185944 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
903A>C |
Arg301Arg |
M0099385 |
NKBEPIEI_00028 |
30355 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2442T>C |
Val814Val |
M0099386 |
NKBEPIEI_00029 |
30648 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
192C>T |
Leu64Leu |
M0099387 |
NKBEPIEI_00030 |
30821 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
15T>C |
Phe5Phe |
M0099388 |
NKBEPIEI_00030 |
30844 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
38A>T |
Glu13Val |
M0099389 |
NKBEPIEI_00030 |
30862 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
56C>A |
Ala19Glu |
M0099390 |
NKBEPIEI_00030 |
30869 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
63A>G |
Lys21Lys |
M0099391 |
NKBEPIEI_00030 |
31274 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
468G>A |
Gln156Gln |
M0099392 |
NKBEPIEI_00030 |
31307 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
501G>C |
Ser167Ser |
M0099393 |
NKBEPIEI_00030 |
31310 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
504A>T |
Ala168Ala |
M0099394 |
NKBEPIEI_00031 |
31542 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
168G>A |
Val56Val |
M0099395 |
NKBEPIEI_00031 |
31563 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
189G>T |
Lys63Asn |
M0099396 |
NKBEPIEI_00031 |
31620 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
246T>C |
Phe82Phe |
M0099397 |
NKBEPIEI_00031 |
31623 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
249T>C |
Gly83Gly |
M0099398 |
NKBEPIEI_00031 |
31737 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
363G>A |
Val121Val |
M0099399 |
NKBEPIEI_00032 |
32128 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
218A>C |
Lys73Thr |
M0099400 |
NKBEPIEI_00032 |
32140 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
230T>A |
Met77Lys |
M0099401 |
NKBEPIEI_00032 |
32177 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
267T>C |
Gly89Gly |
M0099402 |
NKBEPIEI_00032 |
32394 |
8 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
484G>A |
Asp162Asn |
M0099403 |
NKBEPIEI_00032 |
32522 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
612G>T |
Leu204Leu |
M0099404 |
NKBEPIEI_00004 |
1039 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
58C>G |
Pro20Ala |
M0099405 |
NKBEPIEI_00004 |
1464 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
483G>A |
Leu161Leu |
M0099406 |
NKBEPIEI_00004 |
1626 |
15 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
645A>G |
Pro215Pro |
M0099407 |
NKBEPIEI_00004 |
1857 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
876T>C |
His292His |
M0099408 |
NKBEPIEI_00019 |
21782 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
484T>C |
Ser162Pro |
M0099409 |
NKBEPIEI_00019 |
21816 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
450G>A |
Glu150Glu |
M0099410 |
NKBEPIEI_00019 |
21837 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
429C>A |
Ala143Ala |
M0099411 |
NKBEPIEI_00019 |
21840 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
426A>T |
Ile142Ile |
M0099412 |
NKBEPIEI_00019 |
21876 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
390T>A |
Leu130Leu |
M0099413 |
NKBEPIEI_00019 |
21891 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
375G>C |
Pro125Pro |
M0099414 |
NKBEPIEI_00019 |
21924 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
342A>G |
Glu114Glu |
M0099415 |
NKBEPIEI_00019 |
21936 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
330C>T |
Leu110Leu |
M0099416 |
NKBEPIEI_00019 |
21942 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
324G>C |
Leu108Leu |
M0099417 |
NKBEPIEI_00019 |
21957 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
309A>C |
Gln103His |
M0099418 |
NKBEPIEI_00019 |
21978 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
288C>G |
Pro96Pro |
M0099419 |
NKBEPIEI_00019 |
21993 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
273G>A |
Glu91Glu |
M0099420 |
NKBEPIEI_00019 |
21996 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
270A>G |
Pro90Pro |
M0099421 |
NKBEPIEI_00019 |
22014 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
252C>T |
Val84Val |
M0099422 |
NKBEPIEI_00019 |
22047 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
219T>C |
Leu73Leu |
M0099423 |
NKBEPIEI_00019 |
22052 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
214C>A |
Arg72Arg |
M0099424 |
NKBEPIEI_00019 |
22065 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
201T>C |
Asn67Asn |
M0099425 |
NKBEPIEI_00019 |
22152 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
114T>C |
Leu38Leu |
M0099426 |
NKBEPIEI_00019 |
22156 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
110A>G |
Lys37Arg |
M0099427 |
NKBEPIEI_00019 |
22161 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
105C>T |
Leu35Leu |
M0099428 |
NKBEPIEI_00019 |
22169 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
97G>A |
Val33Ile |
M0099429 |
NKBEPIEI_00019 |
22170 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
96C>G |
Gly32Gly |
M0099430 |
NKBEPIEI_00020 |
22380 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
306T>C |
Arg102Arg |
M0099431 |
NKBEPIEI_00020 |
22401 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
285G>A |
Thr95Thr |
M0099432 |
NKBEPIEI_00020 |
22410 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
276G>A |
Gly92Gly |
M0099433 |
NKBEPIEI_00020 |
22422 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
264G>A |
Lys88Lys |
M0099434 |
NKBEPIEI_00020 |
22536 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
150T>C |
Asp50Asp |
M0099435 |
NKBEPIEI_00020 |
22590 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
96T>G |
Arg32Arg |
M0099436 |
NKBEPIEI_00020 |
22608 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
78G>A |
Lys26Lys |
M0099437 |
NKBEPIEI_00020 |
22614 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
72C>A |
Ala24Ala |
M0099438 |
NKBEPIEI_00016 |
22911 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2533A>G |
None |
M0099439 |
NKBEPIEI_00016 |
22934 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2556C>G |
None |
M0099440 |
NKBEPIEI_00022 |
23651 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
207T>C |
Phe69Phe |
M0099441 |
NKBEPIEI_00023 |
23739 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
9T>C |
Leu3Leu |
M0099442 |
NKBEPIEI_00023 |
24220 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
490C>T |
His164Tyr |
M0099443 |
NKBEPIEI_00024 |
24497 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
207C>G |
Arg69Arg |
M0099444 |
NKBEPIEI_00024 |
24521 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
231C>T |
Phe77Phe |
M0099445 |
NKBEPIEI_00027 |
27679 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
447C>T |
Ser149Ser |
M0099446 |
NKBEPIEI_00027 |
27725 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
493G>C |
Ala165Pro |
M0099447 |
NKBEPIEI_00027 |
27727 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
495G>A |
Ala165Ala |
M0099448 |
NKBEPIEI_00027 |
27774 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
542C>G |
Ala181Gly |
M0099449 |
NKBEPIEI_00027 |
27838 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
606G>C |
Ala202Ala |
M0099450 |
NKBEPIEI_00028 |
27908 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-6A>G |
None |
M0099451 |
NKBEPIEI_00028 |
27910 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4G>C |
None |
M0099452 |
NKBEPIEI_00028 |
27973 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
60C>T |
Ala20Ala |
M0099453 |
NKBEPIEI_00028 |
28005 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
92A>T |
Tyr31Phe |
M0099454 |
NKBEPIEI_00028 |
28075 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
162T>C |
Leu54Leu |
M0099455 |
NKBEPIEI_00028 |
28096 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
183C>T |
Gly61Gly |
M0099456 |
NKBEPIEI_00028 |
28099 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
186T>A |
Ala62Ala |
M0099457 |
NKBEPIEI_00028 |
28105 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
192T>C |
Asp64Asp |
M0099458 |
NKBEPIEI_00028 |
28113 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
200A>G |
Asn67Ser |
M0099459 |
NKBEPIEI_00028 |
28117 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
204A>G |
Glu68Glu |
M0099460 |
NKBEPIEI_00028 |
28162 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
249G>C |
Arg83Arg |
M0099461 |
NKBEPIEI_00028 |
28174 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
261C>A |
Thr87Thr |
M0099462 |
NKBEPIEI_00028 |
28193 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
280G>A |
Val94Ile |
M0099463 |
NKBEPIEI_00028 |
28213 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
300G>C |
Ala100Ala |
M0099464 |
NKBEPIEI_00028 |
28228 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
315C>A |
Arg105Arg |
M0099465 |
NKBEPIEI_00028 |
28256 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
343T>C |
Leu115Leu |
M0099466 |
NKBEPIEI_00028 |
28258 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
345G>T |
Leu115Phe |
M0099467 |
NKBEPIEI_00028 |
28261 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
348A>G |
Ala116Ala |
M0099468 |
NKBEPIEI_00028 |
28286 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
373A>G |
Ser125Gly |
M0099469 |
NKBEPIEI_00028 |
28287 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
374G>T |
Ser125Ile |
M0099470 |
NKBEPIEI_00028 |
28306 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
393T>C |
Leu131Leu |
M0099471 |
NKBEPIEI_00028 |
28339 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
426T>C |
Phe142Phe |
M0099472 |
NKBEPIEI_00028 |
28363 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
450T>C |
Ile150Ile |
M0099473 |
NKBEPIEI_00028 |
28465 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
552G>A |
Pro184Pro |
M0099474 |
NKBEPIEI_00028 |
28481 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
568T>C |
Leu190Leu |
M0099475 |
NKBEPIEI_00028 |
28492 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
579G>A |
Glu193Glu |
M0099476 |
NKBEPIEI_00028 |
28495 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
582C>T |
Ile194Ile |
M0099477 |
NKBEPIEI_00028 |
28507 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
594A>G |
Ser198Ser |
M0099478 |
NKBEPIEI_00028 |
28510 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
597C>T |
Asn199Asn |
M0099479 |
NKBEPIEI_00028 |
28513 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
600T>C |
Gly200Gly |
M0099480 |
NKBEPIEI_00028 |
28516 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
603C>A |
Ala201Ala |
M0099481 |
NKBEPIEI_00028 |
28541 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
628C>A |
Arg210Arg |
M0099482 |
NKBEPIEI_00028 |
28561 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
648G>A |
Glu216Glu |
M0099483 |
NKBEPIEI_00028 |
28815 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
902T>C |
Val301Ala |
M0099484 |
NKBEPIEI_00028 |
29947 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2034T>C |
Asp678Asp |
M0099485 |
NKBEPIEI_00028 |
29953 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2040C>G |
Ala680Ala |
M0099486 |
NKBEPIEI_00028 |
29956 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2043A>G |
Thr681Thr |
M0099487 |
NKBEPIEI_00028 |
30046 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2133C>A |
Arg711Arg |
M0099488 |
NKBEPIEI_00028 |
30058 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2145C>G |
Gly715Gly |
M0099489 |
NKBEPIEI_00028 |
30067 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2154T>C |
Ile718Ile |
M0099490 |
NKBEPIEI_00028 |
30085 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2172C>T |
Ile724Ile |
M0099491 |
NKBEPIEI_00028 |
30214 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2301C>T |
Leu767Leu |
M0099492 |
NKBEPIEI_00031 |
31422 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
48C>G |
Leu16Leu |
M0099493 |
NKBEPIEI_00031 |
31508 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
134C>T |
Ser45Phe |
M0099494 |
NKBEPIEI_00031 |
31833 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
459C>T |
Ser153Ser |
M0099495 |
NKBEPIEI_00008 |
9115 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
120A>G |
Leu40Leu |
M0099496 |
NKBEPIEI_00008 |
9355 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
360T>C |
Gly120Gly |
M0099497 |
NKBEPIEI_00008 |
9871 |
14 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
876G>C |
Thr292Thr |
M0099498 |
NKBEPIEI_00008 |
9895 |
14 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
900T>C |
Arg300Arg |
M0099499 |
NKBEPIEI_00008 |
9952 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
957T>C |
Val319Val |
M0099500 |
NKBEPIEI_00008 |
9979 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
984C>A |
Asp328Glu |
M0099501 |
NKBEPIEI_00008 |
9982 |
14 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
987T>C |
His329His |
M0099502 |
NKBEPIEI_00005 |
10152 |
14 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4104A>C |
None |
M0099503 |
NKBEPIEI_00005 |
10153 |
14 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4105G>C |
None |
M0099504 |
NKBEPIEI_00005 |
10222 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4174G>A |
None |
M0099505 |
NKBEPIEI_00009 |
10436 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
189T>C |
Ile63Ile |
M0099506 |
NKBEPIEI_00009 |
10564 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
317A>C |
Gln106Pro |
M0099507 |
NKBEPIEI_00009 |
10640 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
393A>G |
Leu131Leu |
M0099508 |
NKBEPIEI_00009 |
10646 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
399A>G |
Gln133Gln |
M0099509 |
NKBEPIEI_00009 |
10721 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
474A>C |
Gly158Gly |
M0099510 |
NKBEPIEI_00009 |
10751 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
504C>T |
Asp168Asp |
M0099511 |
NKBEPIEI_00032 |
32239 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
329G>A |
Arg110His |
M0099512 |
NKBEPIEI_00035 |
33867 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-5A>G |
None |
M0099513 |
NKBEPIEI_00035 |
33913 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
42G>T |
Leu14Leu |
M0099514 |
NKBEPIEI_00035 |
33914 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
43A>G |
Thr15Ala |
M0099515 |
NKBEPIEI_00177 |
172535 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4460G>A |
None |
M0099516 |
NKBEPIEI_00177 |
172547 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4472C>G |
None |
M0099517 |
NKBEPIEI_00183 |
172555 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
562T>C |
Ser188Pro |
M0099518 |
NKBEPIEI_00183 |
172636 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
481A>C |
Lys161Gln |
M0099519 |
NKBEPIEI_00183 |
172643 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
474G>A |
Arg158Arg |
M0099520 |
NKBEPIEI_00183 |
172762 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
355G>T |
Ala119Ser |
M0099521 |
NKBEPIEI_00183 |
172780 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
337G>C |
Gly113Arg |
M0099522 |
NKBEPIEI_00183 |
172786 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
331T>C |
Phe111Leu |
M0099523 |
NKBEPIEI_00183 |
172879 |
8 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
238A>G |
Ile80Val |
M0099524 |
NKBEPIEI_00183 |
172904 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
213T>C |
Asp71Asp |
M0099525 |
NKBEPIEI_00183 |
172934 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
183A>T |
Leu61Leu |
M0099526 |
NKBEPIEI_00183 |
172969 |
8 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
148G>A |
Ala50Thr |
M0099527 |
NKBEPIEI_00183 |
172985 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
132C>T |
Ser44Ser |
M0099528 |
NKBEPIEI_00183 |
173015 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
102T>C |
His34His |
M0099529 |
NKBEPIEI_00178 |
173121 |
8 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4760C>T |
None |
M0099530 |
NKBEPIEI_00178 |
173128 |
8 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4767T>C |
None |
M0099531 |
NKBEPIEI_00178 |
173192 |
8 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4831G>C |
None |
M0099532 |
NKBEPIEI_00178 |
173212 |
8 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4851C>G |
None |
M0099533 |
NKBEPIEI_00178 |
173240 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4879G>A |
None |
M0099534 |
NKBEPIEI_00178 |
173248 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4887T>A |
None |
M0099535 |
NKBEPIEI_00178 |
173251 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4890C>G |
None |
M0099536 |
NKBEPIEI_00178 |
173252 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4891G>T |
None |
M0099537 |
NKBEPIEI_00178 |
173257 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4896C>G |
None |
M0099538 |
NKBEPIEI_00178 |
173269 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4908T>C |
None |
M0099539 |
NKBEPIEI_00178 |
173300 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4939C>T |
None |
M0099540 |
NKBEPIEI_00178 |
173324 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4963T>A |
None |
M0099541 |
NKBEPIEI_00179 |
173363 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2609T>C |
None |
M0099542 |
NKBEPIEI_00179 |
173364 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2610C>G |
None |
M0099543 |
NKBEPIEI_00184 |
173476 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
882A>G |
Glu294Glu |
M0099544 |
NKBEPIEI_00184 |
173545 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
813T>C |
Gly271Gly |
M0099545 |
NKBEPIEI_00184 |
173584 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
774A>G |
Gly258Gly |
M0099546 |
NKBEPIEI_00184 |
173608 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
750A>G |
Ala250Ala |
M0099547 |
NKBEPIEI_00184 |
173617 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
741C>T |
Asp247Asp |
M0099548 |
NKBEPIEI_00184 |
173794 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
564G>T |
Leu188Leu |
M0099549 |
NKBEPIEI_00184 |
173806 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
552G>A |
Ala184Ala |
M0099550 |
NKBEPIEI_00184 |
173821 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
537T>C |
Ala179Ala |
M0099551 |
NKBEPIEI_00184 |
173863 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
495G>A |
Thr165Thr |
M0099552 |
NKBEPIEI_00184 |
173869 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
489G>A |
Val163Val |
M0099553 |
NKBEPIEI_00184 |
173899 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
459A>C |
Ala153Ala |
M0099554 |
NKBEPIEI_00184 |
173902 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
456G>T |
Ala152Ala |
M0099555 |
NKBEPIEI_00184 |
173917 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
441G>A |
Ala147Ala |
M0099556 |
NKBEPIEI_00184 |
173920 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
438A>G |
Glu146Glu |
M0099557 |
NKBEPIEI_00184 |
173926 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
432G>C |
Ala144Ala |
M0099558 |
NKBEPIEI_00184 |
173932 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
426C>A |
Arg142Arg |
M0099559 |
NKBEPIEI_00184 |
173947 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
411A>C |
Thr137Thr |
M0099560 |
NKBEPIEI_00184 |
173977 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
381G>A |
Glu127Glu |
M0099561 |
NKBEPIEI_00184 |
174018 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
340C>G |
Leu114Val |
M0099562 |
NKBEPIEI_00184 |
174043 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
315T>C |
Asp105Asp |
M0099563 |
NKBEPIEI_00184 |
174079 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
279C>T |
Phe93Phe |
M0099564 |
NKBEPIEI_00184 |
174094 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
264A>C |
Gly88Gly |
M0099565 |
NKBEPIEI_00184 |
174106 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
252G>A |
Gln84Gln |
M0099566 |
NKBEPIEI_00184 |
174172 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
186C>G |
Val62Val |
M0099567 |
NKBEPIEI_00184 |
174199 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
159C>G |
Pro53Pro |
M0099568 |
NKBEPIEI_00184 |
174208 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
150G>T |
Ala50Ala |
M0099569 |
NKBEPIEI_00184 |
174235 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
123C>G |
Leu41Leu |
M0099570 |
NKBEPIEI_00184 |
174304 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
54G>C |
Ala18Ala |
M0099571 |
NKBEPIEI_00184 |
174310 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
48G>A |
Glu16Glu |
M0099572 |
NKBEPIEI_00184 |
174313 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
45T>C |
Ile15Ile |
M0099573 |
NKBEPIEI_00184 |
174352 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
6A>G |
Gln2Gln |
M0099574 |
NKBEPIEI_00179 |
174405 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3651T>G |
None |
M0099575 |
NKBEPIEI_00179 |
174417 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3663G>A |
None |
M0099576 |
NKBEPIEI_00177 |
166303 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1773C>T |
Asn591Asn |
M0099577 |
NKBEPIEI_00177 |
166458 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1618A>G |
Arg540Gly |
M0099578 |
NKBEPIEI_00177 |
166506 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1570A>C |
Arg524Arg |
M0099579 |
NKBEPIEI_00177 |
166510 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1566T>C |
Asp522Asp |
M0099580 |
NKBEPIEI_00177 |
166594 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1482A>T |
Thr494Thr |
M0099581 |
NKBEPIEI_00177 |
166681 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1395T>C |
Val465Val |
M0099582 |
NKBEPIEI_00177 |
166682 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1394T>C |
Val465Ala |
M0099583 |
NKBEPIEI_00177 |
166684 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1392C>A |
Asn464Lys |
M0099584 |
NKBEPIEI_00177 |
166740 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1336C>G |
Pro446Ala |
M0099585 |
NKBEPIEI_00177 |
166751 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1325C>T |
Pro442Leu |
M0099586 |
NKBEPIEI_00177 |
166834 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1242G>A |
Val414Val |
M0099587 |
NKBEPIEI_00177 |
166921 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1155A>G |
Val385Val |
M0099588 |
NKBEPIEI_00177 |
166933 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1143C>T |
Gly381Gly |
M0099589 |
NKBEPIEI_00177 |
166993 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1083C>T |
Ile361Ile |
M0099590 |
NKBEPIEI_00177 |
167068 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1008C>T |
Asn336Asn |
M0099591 |
NKBEPIEI_00177 |
167071 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1005C>T |
Thr335Thr |
M0099592 |
NKBEPIEI_00177 |
167125 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
951T>C |
Asn317Asn |
M0099593 |
NKBEPIEI_00177 |
167363 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
713T>C |
Ile238Thr |
M0099594 |
NKBEPIEI_00177 |
167536 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
540A>C |
Ile180Ile |
M0099595 |
NKBEPIEI_00177 |
167539 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
537G>A |
Glu179Glu |
M0099596 |
NKBEPIEI_00177 |
167674 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
402A>G |
Arg134Arg |
M0099597 |
NKBEPIEI_00177 |
168070 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
6C>T |
Leu2Leu |
M0099598 |
NKBEPIEI_00178 |
168222 |
8 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
140C>T |
Ala47Val |
M0099599 |
NKBEPIEI_00178 |
168242 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
120C>T |
Leu40Leu |
M0099600 |
NKBEPIEI_00179 |
168442 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2313T>G |
His771Gln |
M0099601 |
NKBEPIEI_00179 |
168488 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
2267A>T |
Gln756Leu |
M0099602 |
NKBEPIEI_00179 |
168663 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2092T>C |
Leu698Leu |
M0099603 |
NKBEPIEI_00179 |
168666 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
2089G>A |
Val697Ile |
M0099604 |
NKBEPIEI_00179 |
168837 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1918C>G |
Gln640Glu |
M0099605 |
NKBEPIEI_00179 |
168904 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1851A>G |
Lys617Lys |
M0099606 |
NKBEPIEI_00179 |
169288 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1467T>C |
Asn489Asn |
M0099607 |
NKBEPIEI_00179 |
169312 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1443G>C |
Leu481Leu |
M0099608 |
NKBEPIEI_00179 |
169336 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1419C>T |
Phe473Phe |
M0099609 |
NKBEPIEI_00179 |
169342 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1413G>C |
Thr471Thr |
M0099610 |
NKBEPIEI_00179 |
169414 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1341C>G |
Pro447Pro |
M0099611 |
NKBEPIEI_00179 |
169417 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1338A>G |
Arg446Arg |
M0099612 |
NKBEPIEI_00179 |
169423 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1332C>T |
Leu444Leu |
M0099613 |
NKBEPIEI_00179 |
169426 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1329C>G |
Val443Val |
M0099614 |
NKBEPIEI_00179 |
169435 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1320T>A |
Pro440Pro |
M0099615 |
NKBEPIEI_00179 |
169447 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1308C>G |
Thr436Thr |
M0099616 |
NKBEPIEI_00179 |
169460 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1295C>T |
Thr432Ile |
M0099617 |
NKBEPIEI_00179 |
169468 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1287G>A |
Glu429Glu |
M0099618 |
NKBEPIEI_00179 |
169519 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1236G>C |
Lys412Asn |
M0099619 |
NKBEPIEI_00179 |
169549 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1206T>C |
Asn402Asn |
M0099620 |
NKBEPIEI_00179 |
169570 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1185G>A |
Ala395Ala |
M0099621 |
NKBEPIEI_00179 |
169627 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1128G>T |
Thr376Thr |
M0099622 |
NKBEPIEI_00179 |
169654 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1101G>A |
Lys367Lys |
M0099623 |
NKBEPIEI_00179 |
169674 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1081T>C |
Leu361Leu |
M0099624 |
NKBEPIEI_00179 |
169708 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1047A>C |
Leu349Leu |
M0099625 |
NKBEPIEI_00179 |
169756 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
999A>G |
Lys333Lys |
M0099626 |
NKBEPIEI_00179 |
169786 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
969A>C |
Gly323Gly |
M0099627 |
NKBEPIEI_00179 |
169792 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
963A>G |
Pro321Pro |
M0099628 |
NKBEPIEI_00179 |
169795 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
960G>C |
Val320Val |
M0099629 |
NKBEPIEI_00179 |
169810 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
945G>C |
Ala315Ala |
M0099630 |
NKBEPIEI_00179 |
169858 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
897A>C |
Pro299Pro |
M0099631 |
NKBEPIEI_00179 |
169861 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
894G>A |
Gln298Gln |
M0099632 |
NKBEPIEI_00179 |
169897 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
858T>C |
Thr286Thr |
M0099633 |
NKBEPIEI_00179 |
169906 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
849C>A |
Asp283Glu |
M0099634 |
NKBEPIEI_00179 |
170188 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
567C>T |
Ser189Ser |
M0099635 |
NKBEPIEI_00179 |
170189 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
566G>A |
Ser189Asn |
M0099636 |
NKBEPIEI_00179 |
170212 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
543G>C |
Ala181Ala |
M0099637 |
NKBEPIEI_00179 |
170362 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
393G>A |
Gln131Gln |
M0099638 |
NKBEPIEI_00179 |
170488 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
267C>T |
Asn89Asn |
M0099639 |
NKBEPIEI_00179 |
170587 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
168A>C |
Ala56Ala |
M0099640 |
NKBEPIEI_00179 |
170647 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
108A>G |
Leu36Leu |
M0099641 |
NKBEPIEI_00179 |
170713 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
42A>G |
Leu14Leu |
M0099642 |
NKBEPIEI_00180 |
171011 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
27T>C |
Gly9Gly |
M0099643 |
NKBEPIEI_00177 |
171526 |
8 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3451G>A |
None |
M0099644 |
NKBEPIEI_00177 |
171537 |
8 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3462A>T |
None |
M0099645 |
NKBEPIEI_00177 |
171547 |
8 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3472G>C |
None |
M0099646 |
NKBEPIEI_00177 |
171569 |
8 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3494T>A |
None |
M0099647 |
NKBEPIEI_00177 |
171571 |
8 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3496C>T |
None |
M0099648 |
NKBEPIEI_00181 |
171712 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
135T>G |
Val45Val |
M0099649 |
NKBEPIEI_00181 |
171791 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
214C>T |
Leu72Leu |
M0099650 |
NKBEPIEI_00177 |
171810 |
8 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3735T>C |
None |
M0099651 |
NKBEPIEI_00182 |
172053 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
54T>C |
Ile18Ile |
M0099652 |
NKBEPIEI_00182 |
172059 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
48C>T |
Arg16Arg |
M0099653 |
NKBEPIEI_00177 |
172310 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4235G>A |
None |
M0099654 |
NKBEPIEI_00177 |
172315 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4240C>A |
None |
M0099655 |
NKBEPIEI_00177 |
172361 |
8 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4286G>A |
None |
M0099656 |
NKBEPIEI_00177 |
172406 |
8 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4331C>T |
None |
M0099657 |
NKBEPIEI_00183 |
172753 |
8 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
364G>T |
Ala122Ser |
M0099658 |
NKBEPIEI_00183 |
172760 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
357A>G |
Ala119Ala |
M0099659 |
NKBEPIEI_00183 |
172770 |
8 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
347T>C |
Leu116Pro |
M0099660 |
NKBEPIEI_00203 |
188987 |
8 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
227G>A |
Arg76His |
M0099661 |
NKBEPIEI_00204 |
189549 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
339C>A |
Arg113Arg |
M0099662 |
NKBEPIEI_00208 |
194926 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
2274G>C |
Val758Val |
M0099663 |
NKBEPIEI_00208 |
194965 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
2235G>A |
Glu745Glu |
M0099664 |
NKBEPIEI_00208 |
194980 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
2220A>C |
Arg740Arg |
M0099665 |
NKBEPIEI_00208 |
194989 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
2211T>C |
Arg737Arg |
M0099666 |
NKBEPIEI_00208 |
194992 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
2208C>T |
Thr736Thr |
M0099667 |
NKBEPIEI_00208 |
194995 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
2205G>A |
Glu735Glu |
M0099668 |
NKBEPIEI_00208 |
195230 |
11 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1970T>C |
Ile657Thr |
M0099669 |
NKBEPIEI_00208 |
195262 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1938C>A |
Arg646Arg |
M0099670 |
NKBEPIEI_00208 |
195536 |
11 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1664G>C |
Ser555Thr |
M0099671 |
NKBEPIEI_00208 |
195576 |
11 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1624G>T |
Ala542Ser |
M0099672 |
NKBEPIEI_00208 |
195653 |
11 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1547A>G |
Asp516Gly |
M0099673 |
NKBEPIEI_00208 |
195820 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1380C>T |
Leu460Leu |
M0099674 |
NKBEPIEI_00208 |
195877 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1323A>C |
Ala441Ala |
M0099675 |
NKBEPIEI_00208 |
195994 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1206T>C |
His402His |
M0099676 |
NKBEPIEI_00208 |
196060 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1140C>T |
Arg380Arg |
M0099677 |
NKBEPIEI_00208 |
196093 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1107T>G |
Pro369Pro |
M0099678 |
NKBEPIEI_00208 |
196255 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
945T>C |
Arg315Arg |
M0099679 |
NKBEPIEI_00208 |
196513 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
687A>G |
Glu229Glu |
M0099680 |
NKBEPIEI_00208 |
196563 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
637T>C |
Ser213Pro |
M0099681 |
NKBEPIEI_00208 |
196566 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
634G>A |
Ala212Thr |
M0099682 |
NKBEPIEI_00208 |
196612 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
588C>T |
Pro196Pro |
M0099683 |
NKBEPIEI_00208 |
196984 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
216G>A |
Thr72Thr |
M0099684 |
NKBEPIEI_00208 |
197080 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
120T>C |
Ala40Ala |
M0099685 |
NKBEPIEI_00202 |
193479 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4904G>C |
None |
M0099686 |
NKBEPIEI_00202 |
193482 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4907C>T |
None |
M0099687 |
NKBEPIEI_00202 |
193483 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4908T>G |
None |
M0099688 |
NKBEPIEI_00202 |
193484 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4909C>G |
None |
M0099689 |
NKBEPIEI_00202 |
193485 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4910T>C |
None |
M0099690 |
NKBEPIEI_00202 |
193492 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4917C>G |
None |
M0099691 |
NKBEPIEI_00202 |
193496 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4921T>C |
None |
M0099692 |
NKBEPIEI_00202 |
193504 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4929G>A |
None |
M0099693 |
NKBEPIEI_00202 |
193510 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4935C>G |
None |
M0099694 |
NKBEPIEI_00202 |
193511 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4936C>A |
None |
M0099695 |
NKBEPIEI_00208 |
193556 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
3644A>C |
Lys1215Thr |
M0099696 |
NKBEPIEI_00208 |
193585 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
3615A>G |
Ser1205Ser |
M0099697 |
NKBEPIEI_00208 |
193627 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
3573A>G |
Leu1191Leu |
M0099698 |
NKBEPIEI_00208 |
193639 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
3561T>C |
Pro1187Pro |
M0099699 |
NKBEPIEI_00208 |
193645 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
3555T>C |
Gly1185Gly |
M0099700 |
NKBEPIEI_00208 |
193720 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
3480C>A |
Ile1160Ile |
M0099701 |
NKBEPIEI_00208 |
193775 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
3425G>A |
Ser1142Asn |
M0099702 |
NKBEPIEI_00208 |
193930 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
3270A>C |
Leu1090Leu |
M0099703 |
NKBEPIEI_00208 |
193979 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
3221T>C |
Val1074Ala |
M0099704 |
NKBEPIEI_00208 |
193987 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
3213C>T |
Leu1071Leu |
M0099705 |
NKBEPIEI_00208 |
194065 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
3135A>G |
Leu1045Leu |
M0099706 |
NKBEPIEI_00208 |
194077 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
3123T>C |
Leu1041Leu |
M0099707 |
NKBEPIEI_00208 |
194080 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
3120A>T |
Ile1040Ile |
M0099708 |
NKBEPIEI_00208 |
194175 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
3025G>A |
Val1009Met |
M0099709 |
NKBEPIEI_00208 |
194191 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
3009C>G |
Asp1003Glu |
M0099710 |
NKBEPIEI_00208 |
194248 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2952C>G |
Leu984Leu |
M0099711 |
NKBEPIEI_00208 |
194291 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
2909A>G |
Gln970Arg |
M0099712 |
NKBEPIEI_00208 |
194343 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
2857A>G |
Ile953Val |
M0099713 |
NKBEPIEI_00208 |
194785 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2415C>T |
Thr805Thr |
M0099714 |
NKBEPIEI_00208 |
194857 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2343A>G |
Arg781Arg |
M0099715 |
NKBEPIEI_00208 |
194874 |
8 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
2326G>C |
Ala776Pro |
M0099716 |
NKBEPIEI_00208 |
194881 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2319C>T |
Leu773Leu |
M0099717 |
NKBEPIEI_00200 |
187929 |
8 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
10G>A |
Ala4Thr |
M0099718 |
NKBEPIEI_00196 |
188309 |
11 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3535T>G |
None |
M0099719 |
NKBEPIEI_00196 |
188336 |
12 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3562T>G |
None |
M0099720 |
NKBEPIEI_00196 |
188337 |
12 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3563C>T |
None |
M0099721 |
NKBEPIEI_00196 |
188352 |
12 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3578A>G |
None |
M0099722 |
NKBEPIEI_00202 |
188411 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
165G>A |
Pro55Pro |
M0099723 |
NKBEPIEI_00203 |
188618 |
12 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
596C>T |
Thr199Ile |
M0099724 |
NKBEPIEI_00008 |
9832 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
837G>T |
Thr279Thr |
M0099725 |
NKBEPIEI_00008 |
9919 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
924A>G |
Glu308Glu |
M0099726 |
NKBEPIEI_00009 |
10637 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
390T>C |
His130His |
M0099727 |
NKBEPIEI_00009 |
11126 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
879G>A |
Arg293Arg |
M0099728 |
NKBEPIEI_00009 |
11294 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1047A>G |
Leu349Leu |
M0099729 |
NKBEPIEI_00009 |
11300 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1053A>C |
Thr351Thr |
M0099730 |
NKBEPIEI_00009 |
11309 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1062A>G |
Glu354Glu |
M0099731 |
NKBEPIEI_00009 |
11318 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1071G>A |
Gly357Gly |
M0099732 |
NKBEPIEI_00009 |
11357 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1110T>C |
Asn370Asn |
M0099733 |
NKBEPIEI_00010 |
11649 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
151G>A |
Val51Ile |
M0099734 |
NKBEPIEI_00010 |
11684 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
186G>A |
Arg62Arg |
M0099735 |
NKBEPIEI_00010 |
11855 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
357A>G |
Arg119Arg |
M0099736 |
NKBEPIEI_00010 |
11894 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
396G>A |
Pro132Pro |
M0099737 |
NKBEPIEI_00177 |
166054 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
2022A>G |
Gly674Gly |
M0099738 |
NKBEPIEI_00177 |
166105 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1971A>C |
Gly657Gly |
M0099739 |
NKBEPIEI_00177 |
166108 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1968A>T |
Ala656Ala |
M0099740 |
NKBEPIEI_00177 |
166120 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1956T>C |
Gly652Gly |
M0099741 |
NKBEPIEI_00177 |
166123 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1953C>T |
Ala651Ala |
M0099742 |
NKBEPIEI_00177 |
166158 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1918T>C |
Leu640Leu |
M0099743 |
NKBEPIEI_00177 |
166165 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1911C>T |
Asp637Asp |
M0099744 |
NKBEPIEI_00177 |
166191 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1885G>A |
Asp629Asn |
M0099745 |
NKBEPIEI_00177 |
166210 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1866C>G |
Ala622Ala |
M0099746 |
NKBEPIEI_00002 |
595 |
17 |
Skin |
0.11 |
protein_coding |
stop_lost&splice_region_variant |
HIGH |
337T>G |
Ter113Gluext*? |
M0099747 |
NKBEPIEI_00003 |
620 |
13 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-42C>T |
None |
M0099748 |
NKBEPIEI_00003 |
880 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
219G>T |
Pro73Pro |
M0099749 |
NKBEPIEI_00003 |
883 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
222C>A |
His74Gln |
M0099750 |
NKBEPIEI_00004 |
1977 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
996C>T |
Leu332Leu |
M0099751 |
NKBEPIEI_00004 |
1983 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1002G>C |
Pro334Pro |
M0099752 |
NKBEPIEI_00041 |
42940 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
711G>A |
Thr237Thr |
M0099753 |
NKBEPIEI_00041 |
42955 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
726C>T |
Ala242Ala |
M0099754 |
NKBEPIEI_00041 |
42993 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
764C>T |
Ala255Val |
M0099755 |
NKBEPIEI_00039 |
43024 |
3 |
Skin |
0.02 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4045C>T |
None |
M0099756 |
NKBEPIEI_00042 |
43068 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
624A>T |
Thr208Thr |
M0099757 |
NKBEPIEI_00042 |
43137 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
555A>G |
Thr185Thr |
M0099758 |
NKBEPIEI_00042 |
43230 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
462G>C |
Val154Val |
M0099759 |
NKBEPIEI_00042 |
43310 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
382G>A |
Ala128Thr |
M0099760 |
NKBEPIEI_00042 |
43395 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
297A>T |
Ala99Ala |
M0099761 |
NKBEPIEI_00042 |
43473 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
219T>C |
Asp73Asp |
M0099762 |
NKBEPIEI_00042 |
43476 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
216A>G |
Ala72Ala |
M0099763 |
NKBEPIEI_00042 |
43503 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
189A>G |
Glu63Glu |
M0099764 |
NKBEPIEI_00042 |
43542 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
150T>C |
Ser50Ser |
M0099765 |
NKBEPIEI_00042 |
43561 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
131G>A |
Arg44His |
M0099766 |
NKBEPIEI_00042 |
43602 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
90A>G |
Ala30Ala |
M0099767 |
NKBEPIEI_00042 |
43713 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-22T>C |
None |
M0099768 |
NKBEPIEI_00042 |
43715 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-24A>C |
None |
M0099769 |
NKBEPIEI_00043 |
43731 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
201G>A |
Pro67Pro |
M0099770 |
NKBEPIEI_00043 |
43740 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
192T>G |
Asp64Glu |
M0099771 |
NKBEPIEI_00043 |
43746 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
186G>A |
Gly62Gly |
M0099772 |
NKBEPIEI_00043 |
43761 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
171G>A |
Val57Val |
M0099773 |
NKBEPIEI_00043 |
43764 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
168T>G |
Phe56Leu |
M0099774 |
NKBEPIEI_00043 |
43896 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
36T>C |
Ala12Ala |
M0099775 |
NKBEPIEI_00043 |
43928 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
4G>A |
Gly2Arg |
M0099776 |
NKBEPIEI_00042 |
43953 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-262A>T |
None |
M0099777 |
NKBEPIEI_00042 |
43996 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-305C>T |
None |
M0099778 |
NKBEPIEI_00042 |
44005 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-314C>T |
None |
M0099779 |
NKBEPIEI_00042 |
44053 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-362A>G |
None |
M0099780 |
NKBEPIEI_00044 |
44082 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
3060G>A |
Thr1020Thr |
M0099781 |
NKBEPIEI_00044 |
44115 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
3027G>T |
Thr1009Thr |
M0099782 |
NKBEPIEI_00044 |
44268 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2874T>C |
Ile958Ile |
M0099783 |
NKBEPIEI_00044 |
44373 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2769A>G |
Thr923Thr |
M0099784 |
NKBEPIEI_00044 |
44379 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2763C>T |
Ile921Ile |
M0099785 |
NKBEPIEI_00044 |
44415 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2727C>G |
Arg909Arg |
M0099786 |
NKBEPIEI_00044 |
44427 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2715A>G |
Gly905Gly |
M0099787 |
NKBEPIEI_00044 |
44432 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2710C>A |
Arg904Arg |
M0099788 |
NKBEPIEI_00044 |
44445 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2697C>A |
Gly899Gly |
M0099789 |
NKBEPIEI_00044 |
44451 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2691C>T |
Ser897Ser |
M0099790 |
NKBEPIEI_00044 |
44454 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2688T>C |
Val896Val |
M0099791 |
NKBEPIEI_00044 |
44460 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2682C>T |
Asp894Asp |
M0099792 |
NKBEPIEI_00044 |
44478 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2664A>G |
Arg888Arg |
M0099793 |
NKBEPIEI_00044 |
44563 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2579C>G |
Thr860Ser |
M0099794 |
NKBEPIEI_00044 |
44604 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2538C>A |
Gly846Gly |
M0099795 |
NKBEPIEI_00044 |
44619 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2523C>T |
Ser841Ser |
M0099796 |
NKBEPIEI_00044 |
44622 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2520C>G |
Ser840Ser |
M0099797 |
NKBEPIEI_00044 |
44625 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2517G>A |
Gln839Gln |
M0099798 |
NKBEPIEI_00044 |
44631 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2511G>T |
Leu837Leu |
M0099799 |
NKBEPIEI_00044 |
44637 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2505G>A |
Gln835Gln |
M0099800 |
NKBEPIEI_00044 |
44640 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2502C>T |
Leu834Leu |
M0099801 |
NKBEPIEI_00044 |
44644 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2498G>A |
Ser833Asn |
M0099802 |
NKBEPIEI_00044 |
44655 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2487T>C |
Asp829Asp |
M0099803 |
NKBEPIEI_00044 |
44721 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2421C>G |
Val807Val |
M0099804 |
NKBEPIEI_00044 |
44741 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2401T>G |
Ser801Ala |
M0099805 |
NKBEPIEI_00044 |
44751 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2391T>G |
Ala797Ala |
M0099806 |
NKBEPIEI_00044 |
44772 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2370A>T |
Glu790Asp |
M0099807 |
NKBEPIEI_00044 |
44784 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2358A>G |
Arg786Arg |
M0099808 |
NKBEPIEI_00044 |
44800 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2342C>T |
Ala781Val |
M0099809 |
NKBEPIEI_00044 |
44823 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2319C>G |
Arg773Arg |
M0099810 |
NKBEPIEI_00044 |
44826 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2316A>G |
Ala772Ala |
M0099811 |
NKBEPIEI_00044 |
44854 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2288T>A |
Phe763Tyr |
M0099812 |
NKBEPIEI_00044 |
44870 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2272G>C |
Glu758Gln |
M0099813 |
NKBEPIEI_00044 |
44874 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2268G>T |
Leu756Leu |
M0099814 |
NKBEPIEI_00044 |
44877 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2265G>A |
Ala755Ala |
M0099815 |
NKBEPIEI_00044 |
44907 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2235G>C |
Ala745Ala |
M0099816 |
NKBEPIEI_00044 |
44917 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2225G>A |
Gly742Asp |
M0099817 |
NKBEPIEI_00044 |
44961 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2181C>A |
Ser727Ser |
M0099818 |
NKBEPIEI_00044 |
45008 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2134G>T |
Ala712Ser |
M0099819 |
NKBEPIEI_00044 |
45054 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2088A>G |
Glu696Glu |
M0099820 |
NKBEPIEI_00044 |
45057 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2085A>C |
Arg695Arg |
M0099821 |
NKBEPIEI_00044 |
45168 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1974A>G |
Ser658Ser |
M0099822 |
NKBEPIEI_00044 |
45186 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1956C>T |
Tyr652Tyr |
M0099823 |
NKBEPIEI_00003 |
673 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
12C>T |
Thr4Thr |
M0099824 |
NKBEPIEI_00005 |
8939 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2891T>C |
None |
M0099825 |
NKBEPIEI_00009 |
10823 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
576C>T |
Phe192Phe |
M0099826 |
NKBEPIEI_00009 |
10865 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
618T>C |
Asn206Asn |
M0099827 |
NKBEPIEI_00205 |
190237 |
11 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
69G>C |
Leu23Leu |
M0099828 |
NKBEPIEI_00205 |
190267 |
11 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
39C>A |
Thr13Thr |
M0099829 |
NKBEPIEI_00206 |
191121 |
12 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
227C>T |
Pro76Leu |
M0099830 |
NKBEPIEI_00206 |
191227 |
11 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
121C>A |
Arg41Arg |
M0099831 |
NKBEPIEI_00206 |
191246 |
11 |
Skin |
0.07 |
protein_coding |
stop_gained |
HIGH |
102G>A |
Trp34* |
M0099832 |
NKBEPIEI_00208 |
195609 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1591G>A |
Ala531Thr |
M0099833 |
NKBEPIEI_00203 |
188926 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
288C>T |
Ser96Ser |
M0099834 |
NKBEPIEI_00203 |
188950 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
264G>C |
Gly88Gly |
M0099835 |
NKBEPIEI_00005 |
8840 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2792A>G |
None |
M0099836 |
NKBEPIEI_00008 |
9550 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
555C>T |
Leu185Leu |
M0099837 |
NKBEPIEI_00008 |
9553 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
558G>C |
Gly186Gly |
M0099838 |
NKBEPIEI_00008 |
9607 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
612G>A |
Glu204Glu |
M0099839 |
NKBEPIEI_00008 |
9613 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
618A>G |
Ala206Ala |
M0099840 |
NKBEPIEI_00005 |
10085 |
8 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4037T>C |
None |
M0099841 |
NKBEPIEI_00009 |
10949 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
702G>T |
Ser234Ser |
M0099842 |
NKBEPIEI_00009 |
11303 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1056C>T |
Val352Val |
M0099843 |
NKBEPIEI_00010 |
11930 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
432C>T |
Gly144Gly |
M0099844 |
NKBEPIEI_00010 |
11990 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
492T>C |
Asp164Asp |
M0099845 |
NKBEPIEI_00010 |
12008 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
510C>T |
Asp170Asp |
M0099846 |
NKBEPIEI_00010 |
12041 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
543T>C |
Gly181Gly |
M0099847 |
NKBEPIEI_00008 |
9439 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
444A>C |
Val148Val |
M0099848 |
NKBEPIEI_00008 |
9454 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
459A>G |
Ser153Ser |
M0099849 |
NKBEPIEI_00008 |
9469 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
474G>A |
Lys158Lys |
M0099850 |
NKBEPIEI_00006 |
11453 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4474G>A |
None |
M0099851 |
NKBEPIEI_00177 |
165724 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2352G>A |
Leu784Leu |
M0099852 |
NKBEPIEI_00177 |
165740 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
2336A>G |
Gln779Arg |
M0099853 |
NKBEPIEI_00177 |
165793 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
2283A>C |
Lys761Asn |
M0099854 |
NKBEPIEI_00177 |
165836 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
2240A>G |
Asn747Ser |
M0099855 |
NKBEPIEI_00177 |
165838 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2238C>G |
Ala746Ala |
M0099856 |
NKBEPIEI_00177 |
165880 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2196G>A |
Thr732Thr |
M0099857 |
NKBEPIEI_00177 |
165911 |
8 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
2165T>C |
Val722Ala |
M0099858 |
NKBEPIEI_00177 |
165944 |
8 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
2132A>G |
Gln711Arg |
M0099859 |
NKBEPIEI_00177 |
165946 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2130T>C |
Asn710Asn |
M0099860 |
NKBEPIEI_00177 |
165988 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2088A>C |
Thr696Thr |
M0099861 |
NKBEPIEI_00177 |
166024 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2052A>C |
Thr684Thr |
M0099862 |
NKBEPIEI_00178 |
168110 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
252A>G |
Pro84Pro |
M0099863 |
NKBEPIEI_00177 |
171847 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3772A>C |
None |
M0099864 |
NKBEPIEI_00177 |
171848 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3773C>T |
None |
M0099865 |
NKBEPIEI_00182 |
171855 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
252T>C |
Tyr84Tyr |
M0099866 |
NKBEPIEI_00182 |
171858 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
249G>A |
Glu83Glu |
M0099867 |
NKBEPIEI_00182 |
171865 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
242A>G |
Asp81Gly |
M0099868 |
NKBEPIEI_00182 |
171870 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
237A>G |
Lys79Lys |
M0099869 |
NKBEPIEI_00182 |
171873 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
234C>G |
Gly78Gly |
M0099870 |
NKBEPIEI_00182 |
171878 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
229A>G |
Thr77Ala |
M0099871 |
NKBEPIEI_00182 |
171930 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
177T>G |
Gly59Gly |
M0099872 |
NKBEPIEI_00177 |
172121 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4046C>T |
None |
M0099873 |
NKBEPIEI_00177 |
172149 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4074T>C |
None |
M0099874 |
NKBEPIEI_00183 |
172659 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
458C>T |
Thr153Ile |
M0099875 |
NKBEPIEI_00179 |
174447 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3693G>T |
None |
M0099876 |
NKBEPIEI_00179 |
174462 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3708G>T |
None |
M0099877 |
NKBEPIEI_00179 |
174463 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3709G>A |
None |
M0099878 |
NKBEPIEI_00179 |
174464 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3710A>C |
None |
M0099879 |
NKBEPIEI_00179 |
174494 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3740C>T |
None |
M0099880 |
NKBEPIEI_00179 |
174496 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3742C>A |
None |
M0099881 |
NKBEPIEI_00179 |
174524 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3770G>A |
None |
M0099882 |
NKBEPIEI_00179 |
174528 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3774G>A |
None |
M0099883 |
NKBEPIEI_00179 |
174546 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3792T>C |
None |
M0099884 |
NKBEPIEI_00004 |
1386 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
405C>T |
Asp135Asp |
M0099885 |
NKBEPIEI_00004 |
1389 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
408T>C |
Leu136Leu |
M0099886 |
NKBEPIEI_00206 |
190724 |
11 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
624A>C |
Ile208Ile |
M0099887 |
NKBEPIEI_00206 |
190754 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
594A>C |
Ala198Ala |
M0099888 |
NKBEPIEI_00041 |
41811 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-419C>T |
None |
M0099889 |
NKBEPIEI_00041 |
41876 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-354C>T |
None |
M0099890 |
NKBEPIEI_00041 |
42402 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
173G>A |
Arg58Lys |
M0099891 |
NKBEPIEI_00041 |
42511 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
282G>A |
Ala94Ala |
M0099892 |
NKBEPIEI_00041 |
42518 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
289T>G |
Ser97Ala |
M0099893 |
NKBEPIEI_00041 |
42550 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
321G>A |
Glu107Glu |
M0099894 |
NKBEPIEI_00041 |
42623 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
394T>C |
Leu132Leu |
M0099895 |
NKBEPIEI_00041 |
42776 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
547G>A |
Asp183Asn |
M0099896 |
NKBEPIEI_00039 |
43013 |
6 |
Skin |
0.04 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4034C>T |
None |
M0099897 |
NKBEPIEI_00042 |
43443 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
249G>C |
Thr83Thr |
M0099898 |
NKBEPIEI_00207 |
191514 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1941C>T |
Gly647Gly |
M0099899 |
NKBEPIEI_00207 |
191538 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1917A>G |
Lys639Lys |
M0099900 |
NKBEPIEI_00207 |
191592 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1863T>C |
Gly621Gly |
M0099901 |
NKBEPIEI_00207 |
191604 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1851A>G |
Leu617Leu |
M0099902 |
NKBEPIEI_00207 |
191610 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1845T>C |
Ala615Ala |
M0099903 |
NKBEPIEI_00207 |
191619 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1836G>C |
Ser612Ser |
M0099904 |
NKBEPIEI_00207 |
191622 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1833C>T |
Thr611Thr |
M0099905 |
NKBEPIEI_00207 |
191646 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1809C>T |
Asn603Asn |
M0099906 |
NKBEPIEI_00207 |
191700 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1755C>T |
Leu585Leu |
M0099907 |
NKBEPIEI_00207 |
191733 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1722C>T |
Tyr574Tyr |
M0099908 |
NKBEPIEI_00207 |
191985 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1470A>G |
Ala490Ala |
M0099909 |
NKBEPIEI_00207 |
191988 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1467T>C |
Leu489Leu |
M0099910 |
NKBEPIEI_00207 |
192168 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1287A>G |
Ala429Ala |
M0099911 |
NKBEPIEI_00207 |
192171 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1284G>A |
Pro428Pro |
M0099912 |
NKBEPIEI_00207 |
192186 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1269G>A |
Ala423Ala |
M0099913 |
NKBEPIEI_00207 |
192192 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1263G>C |
Val421Val |
M0099914 |
NKBEPIEI_00207 |
192444 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1011C>A |
Ile337Ile |
M0099915 |
NKBEPIEI_00207 |
192534 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
921A>C |
Arg307Arg |
M0099916 |
NKBEPIEI_00207 |
192537 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
918G>C |
Ala306Ala |
M0099917 |
NKBEPIEI_00207 |
192843 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
612G>C |
Met204Ile |
M0099918 |
NKBEPIEI_00207 |
192903 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
552C>T |
Gly184Gly |
M0099919 |
NKBEPIEI_00207 |
192924 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
531C>T |
Ile177Ile |
M0099920 |
NKBEPIEI_00207 |
192942 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
513C>T |
Ala171Ala |
M0099921 |
NKBEPIEI_00207 |
193004 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
451G>A |
Ala151Thr |
M0099922 |
NKBEPIEI_00207 |
193305 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
150A>C |
Glu50Asp |
M0099923 |
NKBEPIEI_00207 |
193441 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
14G>A |
Arg5His |
M0099924 |
NKBEPIEI_00207 |
193442 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
13C>G |
Arg5Gly |
M0099925 |
NKBEPIEI_00208 |
194392 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2808T>C |
Val936Val |
M0099926 |
NKBEPIEI_00208 |
194394 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2806G>C |
Val936Leu |
M0099927 |
NKBEPIEI_00208 |
194407 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2793A>G |
Glu931Glu |
M0099928 |
NKBEPIEI_00208 |
194416 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2784C>T |
Ile928Ile |
M0099929 |
NKBEPIEI_00208 |
194452 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2748G>C |
Arg916Arg |
M0099930 |
NKBEPIEI_00208 |
194473 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2727T>G |
Pro909Pro |
M0099931 |
NKBEPIEI_00208 |
194497 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2703G>C |
Gly901Gly |
M0099932 |
NKBEPIEI_00004 |
1080 |
11 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
99G>A |
Leu33Leu |
M0099933 |
NKBEPIEI_00196 |
184070 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
705C>A |
Thr235Thr |
M0099934 |
NKBEPIEI_00196 |
184073 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
702G>A |
Lys234Lys |
M0099935 |
NKBEPIEI_00197 |
185072 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
441A>C |
Glu147Asp |
M0099936 |
NKBEPIEI_00197 |
185352 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
161A>G |
Gln54Arg |
M0099937 |
NKBEPIEI_00016 |
22758 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2380C>T |
None |
M0099938 |
NKBEPIEI_00016 |
22807 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2429A>C |
None |
M0099939 |
NKBEPIEI_00016 |
22831 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2453G>A |
None |
M0099940 |
NKBEPIEI_00023 |
23952 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
222G>A |
Thr74Thr |
M0099941 |
NKBEPIEI_00025 |
25578 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
482G>T |
Arg161Leu |
M0099942 |
NKBEPIEI_00025 |
26230 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1134A>G |
Glu378Glu |
M0099943 |
NKBEPIEI_00025 |
26245 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1149C>G |
Ala383Ala |
M0099944 |
NKBEPIEI_00025 |
26248 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1152G>C |
Leu384Leu |
M0099945 |
NKBEPIEI_00025 |
26275 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1179C>T |
Thr393Thr |
M0099946 |
NKBEPIEI_00025 |
26311 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1215G>A |
Gln405Gln |
M0099947 |
NKBEPIEI_00026 |
26508 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
109G>T |
Ala37Ser |
M0099948 |
NKBEPIEI_00026 |
27182 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
783T>C |
His261His |
M0099949 |
NKBEPIEI_00026 |
27227 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
828A>G |
Lys276Lys |
M0099950 |
NKBEPIEI_00027 |
27243 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
11A>G |
Lys4Arg |
M0099951 |
NKBEPIEI_00027 |
27244 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
12G>A |
Lys4Lys |
M0099952 |
NKBEPIEI_00027 |
27254 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
22C>T |
Pro8Ser |
M0099953 |
NKBEPIEI_00027 |
27257 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
25A>C |
Lys9Gln |
M0099954 |
NKBEPIEI_00027 |
27261 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
29T>C |
Val10Ala |
M0099955 |
NKBEPIEI_00027 |
27265 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
33C>G |
Ala11Ala |
M0099956 |
NKBEPIEI_00027 |
27287 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
55A>G |
Ser19Gly |
M0099957 |
NKBEPIEI_00027 |
27292 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
60T>G |
Leu20Leu |
M0099958 |
NKBEPIEI_00027 |
27316 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
84C>G |
Gly28Gly |
M0099959 |
NKBEPIEI_00027 |
27319 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
87C>T |
Thr29Thr |
M0099960 |
NKBEPIEI_00027 |
27322 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
90C>T |
Asn30Asn |
M0099961 |
NKBEPIEI_00027 |
27358 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
126C>A |
Gly42Gly |
M0099962 |
NKBEPIEI_00027 |
27415 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
183G>C |
Thr61Thr |
M0099963 |
NKBEPIEI_00027 |
27418 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
186T>C |
Ser62Ser |
M0099964 |
NKBEPIEI_00027 |
27421 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
189G>C |
Ser63Ser |
M0099965 |
NKBEPIEI_00027 |
27422 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
190G>A |
Ala64Thr |
M0099966 |
NKBEPIEI_00027 |
27445 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
213C>A |
Gly71Gly |
M0099967 |
NKBEPIEI_00027 |
27475 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
243G>A |
Ala81Ala |
M0099968 |
NKBEPIEI_00027 |
27505 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
273G>A |
Ala91Ala |
M0099969 |
NKBEPIEI_00027 |
27508 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
276G>A |
Ala92Ala |
M0099970 |
NKBEPIEI_00027 |
27512 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
280T>G |
Leu94Val |
M0099971 |
NKBEPIEI_00027 |
27547 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
315G>C |
Val105Val |
M0099972 |
NKBEPIEI_00027 |
27691 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
459C>T |
Leu153Leu |
M0099973 |
NKBEPIEI_00027 |
27820 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
588G>A |
Glu196Glu |
M0099974 |
NKBEPIEI_00196 |
183497 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1278T>C |
Ser426Ser |
M0099975 |
NKBEPIEI_00196 |
183596 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1179C>G |
Arg393Arg |
M0099976 |
NKBEPIEI_00196 |
183597 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1178G>A |
Arg393His |
M0099977 |
NKBEPIEI_00196 |
183602 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1173A>G |
Gly391Gly |
M0099978 |
NKBEPIEI_00196 |
183752 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1023G>T |
Leu341Leu |
M0099979 |
NKBEPIEI_00204 |
189821 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
67G>T |
Asp23Tyr |
M0099980 |
NKBEPIEI_00205 |
189979 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
327A>G |
Leu109Leu |
M0099981 |
NKBEPIEI_00003 |
634 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-28C>A |
None |
M0099982 |
NKBEPIEI_00003 |
700 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
39T>C |
Gly13Gly |
M0099983 |
NKBEPIEI_00007 |
7336 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
693A>G |
Leu231Leu |
M0099984 |
NKBEPIEI_00007 |
7533 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
496T>C |
Trp166Arg |
M0099985 |
NKBEPIEI_00007 |
7534 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
495T>C |
Gly165Gly |
M0099986 |
NKBEPIEI_00007 |
7882 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
147A>C |
Ser49Ser |
M0099987 |
NKBEPIEI_00007 |
7992 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
37A>G |
Ile13Val |
M0099988 |
NKBEPIEI_00005 |
8090 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2042C>A |
None |
M0099989 |
NKBEPIEI_00005 |
8150 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2102A>G |
None |
M0099990 |
NKBEPIEI_00005 |
8171 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2123A>C |
None |
M0099991 |
NKBEPIEI_00005 |
8336 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2288T>C |
None |
M0099992 |
NKBEPIEI_00005 |
8356 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2308T>G |
None |
M0099993 |
NKBEPIEI_00005 |
8417 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2369C>A |
None |
M0099994 |
NKBEPIEI_00005 |
8473 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2425G>A |
None |
M0099995 |
NKBEPIEI_00005 |
8547 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2499C>G |
None |
M0099996 |
NKBEPIEI_00026 |
26795 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
396A>T |
Ser132Ser |
M0099997 |
NKBEPIEI_00028 |
28546 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
633C>T |
Phe211Phe |
M0099998 |
NKBEPIEI_00032 |
31972 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
62T>C |
Val21Ala |
M0099999 |
NKBEPIEI_00044 |
46218 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
924G>T |
Glu308Asp |
M0100000 |
NKBEPIEI_00044 |
46221 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
921G>C |
Ala307Ala |
M0100001 |
NKBEPIEI_00044 |
46225 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
917G>A |
Arg306Gln |
M0100002 |
NKBEPIEI_00044 |
46238 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
904G>A |
Ala302Thr |
M0100003 |
NKBEPIEI_00044 |
46239 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
903G>A |
Arg301Arg |
M0100004 |
NKBEPIEI_00044 |
46267 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
875G>C |
Gly292Ala |
M0100005 |
NKBEPIEI_00044 |
46290 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
852C>G |
Ser284Ser |
M0100006 |
NKBEPIEI_00044 |
46302 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
840T>C |
Val280Val |
M0100007 |
NKBEPIEI_00044 |
46305 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
837G>A |
Glu279Glu |
M0100008 |
NKBEPIEI_00044 |
46420 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
722C>T |
Ser241Leu |
M0100009 |
NKBEPIEI_00044 |
46422 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
720G>C |
Ala240Ala |
M0100010 |
NKBEPIEI_00044 |
46506 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
636T>G |
Asp212Glu |
M0100011 |
NKBEPIEI_00026 |
26660 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
261C>T |
Val87Val |
M0100012 |
NKBEPIEI_00026 |
26717 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
318T>G |
Pro106Pro |
M0100013 |
NKBEPIEI_00177 |
165138 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2938G>C |
Val980Leu |
M0100014 |
NKBEPIEI_00177 |
165260 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2816C>G |
Ala939Gly |
M0100015 |
NKBEPIEI_00177 |
165349 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2727G>A |
Ala909Ala |
M0100016 |
NKBEPIEI_00177 |
165535 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2541C>G |
Arg847Arg |
M0100017 |
NKBEPIEI_00177 |
165536 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2540G>A |
Arg847His |
M0100018 |
NKBEPIEI_00177 |
165542 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2534C>T |
Ala845Val |
M0100019 |
NKBEPIEI_00177 |
165543 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2533G>A |
Ala845Thr |
M0100020 |
NKBEPIEI_00177 |
165549 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2527G>A |
Val843Ile |
M0100021 |
NKBEPIEI_00177 |
165550 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2526A>G |
Arg842Arg |
M0100022 |
NKBEPIEI_00177 |
165553 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2523G>C |
Ala841Ala |
M0100023 |
NKBEPIEI_00177 |
165584 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2492G>C |
Ser831Thr |
M0100024 |
NKBEPIEI_00177 |
165632 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2444A>G |
Gln815Arg |
M0100025 |
NKBEPIEI_00206 |
190676 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
672C>G |
Gly224Gly |
M0100026 |
NKBEPIEI_00041 |
42691 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
462A>G |
Leu154Leu |
M0100027 |
NKBEPIEI_00041 |
42703 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
474G>T |
Ser158Ser |
M0100028 |
NKBEPIEI_00044 |
44748 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2394A>G |
Gln798Gln |
M0100029 |
NKBEPIEI_00044 |
46246 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
896C>T |
Ala299Val |
M0100030 |
NKBEPIEI_00028 |
29323 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1410C>T |
Gly470Gly |
M0100031 |
NKBEPIEI_00042 |
43946 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-255C>T |
None |
M0100032 |
NKBEPIEI_00005 |
10154 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4106G>A |
None |
M0100033 |
NKBEPIEI_00005 |
10169 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4121G>T |
None |
M0100034 |
NKBEPIEI_00009 |
11144 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
897A>G |
Leu299Leu |
M0100035 |
NKBEPIEI_00009 |
11168 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
921A>G |
Ser307Ser |
M0100036 |
NKBEPIEI_00168 |
164417 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4960G>A |
None |
M0100037 |
NKBEPIEI_00168 |
164431 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4974G>A |
None |
M0100038 |
NKBEPIEI_00176 |
164472 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
177C>G |
Arg59Arg |
M0100039 |
NKBEPIEI_00176 |
164475 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
174T>C |
Asn58Asn |
M0100040 |
NKBEPIEI_00176 |
164548 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
101G>A |
Arg34His |
M0100041 |
NKBEPIEI_00169 |
164674 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3987A>C |
None |
M0100042 |
NKBEPIEI_00169 |
164727 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4040G>C |
None |
M0100043 |
NKBEPIEI_00169 |
164729 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4042G>A |
None |
M0100044 |
NKBEPIEI_00169 |
164800 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4113C>A |
None |
M0100045 |
NKBEPIEI_00169 |
164859 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4172G>T |
None |
M0100046 |
NKBEPIEI_00169 |
164890 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4203C>T |
None |
M0100047 |
NKBEPIEI_00169 |
164916 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4229T>C |
None |
M0100048 |
NKBEPIEI_00177 |
165147 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
2929G>A |
Gly977Arg |
M0100049 |
NKBEPIEI_00177 |
165241 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2835T>A |
Leu945Leu |
M0100050 |
NKBEPIEI_00179 |
169114 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1641C>T |
Phe547Phe |
M0100051 |
NKBEPIEI_00179 |
169117 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1638G>A |
Glu546Glu |
M0100052 |
NKBEPIEI_00179 |
169165 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1590A>G |
Lys530Lys |
M0100053 |
NKBEPIEI_00004 |
2169 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1188G>A |
Ala396Ala |
M0100054 |
NKBEPIEI_00004 |
2178 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1197G>T |
Ala399Ala |
M0100055 |
NKBEPIEI_00004 |
2237 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1256A>T |
Tyr419Phe |
M0100056 |
NKBEPIEI_00001 |
2263 |
3 |
Skin |
0.02 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*2032A>G |
None |
M0100057 |
NKBEPIEI_00177 |
172296 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4221C>T |
None |
M0100058 |
NKBEPIEI_00010 |
12062 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
564A>G |
Glu188Glu |
M0100059 |
NKBEPIEI_00010 |
12071 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
573A>G |
Lys191Lys |
M0100060 |
NKBEPIEI_00010 |
12077 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
579C>T |
Ser193Ser |
M0100061 |
NKBEPIEI_00010 |
12092 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
594A>G |
Thr198Thr |
M0100062 |
NKBEPIEI_00010 |
12110 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
612C>T |
Ala204Ala |
M0100063 |
NKBEPIEI_00177 |
167362 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
714C>T |
Ile238Ile |
M0100064 |
NKBEPIEI_00124 |
123476 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4434A>G |
None |
M0100065 |
NKBEPIEI_00131 |
123610 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
129A>G |
Val43Val |
M0100066 |
NKBEPIEI_00131 |
123781 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
300G>A |
Arg100Arg |
M0100067 |
NKBEPIEI_00131 |
123805 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
324C>T |
Pro108Pro |
M0100068 |
NKBEPIEI_00131 |
123835 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
354A>G |
Ser118Ser |
M0100069 |
NKBEPIEI_00131 |
123965 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
484T>A |
Ser162Thr |
M0100070 |
NKBEPIEI_00125 |
124106 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4388G>A |
None |
M0100071 |
NKBEPIEI_00125 |
124140 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4422G>C |
None |
M0100072 |
NKBEPIEI_00125 |
124146 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4428T>C |
None |
M0100073 |
NKBEPIEI_00125 |
124162 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4444G>T |
None |
M0100074 |
NKBEPIEI_00125 |
124170 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4452T>C |
None |
M0100075 |
NKBEPIEI_00125 |
124171 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4453T>C |
None |
M0100076 |
NKBEPIEI_00125 |
124219 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4501C>T |
None |
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 |
NKBEPIEI_00015 |
QXF14368.1|GH23 |
100 |
6.99e-142 |
91 |
290 |
0.6897 |
1 |
NKBEPIEI_00089 |
QXF14291.1|GH23 |
100 |
1.21e-263 |
1 |
370 |
1 |
1 |
NKBEPIEI_00161 |
QXF14334.1|GH35 |
100 |
4.16e-146 |
1 |
216 |
1 |
1 |
Analyzing transport proteins to understand bacterial strategies for substrate uptake and detoxification
This table presents transport proteins within the plasmid cluster.
Note: Investigation of transport proteins based on TCDB to uncover bacterial mechanisms of substrate transport and environmental detoxification. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known transport protein entries are listed.
Gene Name |
tcid |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
class_field |
class_term |
subclass |
subclass_term |
family |
family_term |