view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VPS45_chr1_150062776_150150329 | 150088434 | A | ATAT | intron_variant | MODIFIER | HG01515.hp1 HG01516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0110 |
2 | 93 | 0.0215 | 3 | c.110 others(22): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 10/14 | chr1 | TogoVar | |||||||
VPS45_chr1_150062776_150150329 | 150088475 | C | CTTT | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp2 HG02723.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 others(5): Show |
8 | 166 | 0.0482 | 3 | c.110 others(22): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS45_chr1_150062776_150150329 | 150092837 | C | CTTT | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01884.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0044 a0001c0001t0001g0067 others(5): Show |
9 | 10 | 0.9000 | 3 | c.137 others(20): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS45_chr1_150062776_150150329 | 150102235 | C | CAAA | intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 HG01175.hp2 others(16): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0023 others(15): Show |
19 | 44 | 0.4318 | 3 | c.149 others(22): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS45_chr1_150062776_150150329 | 150114579 | T | TAAA | intron_variant | MODIFIER | HG02109.hp2 HG02132.hp2 HG02145.hp1 others(13): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0100 a0001c0001t0001g0111 a0001c0001t0001g0112 others(13): Show |
16 | 168 | 0.0952 | 3 | c.162 others(22): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS45_chr1_150062776_150150329 | 150124550 | T | TTTC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00558.hp1 others(158): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(154): Show |
161 | 174 | 0.9253 | 3 | c.162 others(24): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS45_chr1_150062776_150150329 | 150124716 | A | ATTT | intron_variant | MODIFIER | HG00558.hp1 HG01168.hp1 HG01433.hp1 others(31): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0044 others(30): Show |
34 | 158 | 0.2152 | 3 | c.162 others(24): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS45_chr1_150062776_150150329 | 150130198 | C | CTTT | intron_variant | MODIFIER | HG01071.hp1 HG01168.hp2 HG01255.hp1 others(38): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 others(38): Show |
41 | 154 | 0.2662 | 3 | c.162 others(24): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS45_chr1_150062776_150150329 | 150131676 | T | TAAA | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01168.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(16): Show |
19 | 165 | 0.1152 | 3 | c.162 others(24): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS45_chr1_150062776_150150329 | 150136247 | T | TCAA | intron_variant | MODIFIER | HG00738.hp1 HG02055.hp1 HG02647.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0078 a0001c0001t0001g0111 a0001c0001t0001g0113 others(6): Show |
9 | 170 | 0.0529 | 3 | c.162 others(22): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 14/14 | chr1 | TogoVar | |||||||
VPS45_chr1_150062776_150150329 | 150137915 | C | CAAA | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01928.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0066 others(8): Show |
11 | 26 | 0.4231 | 3 | c.162 others(22): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS4A_chr16_69306350_69331939 | 69310070 | G | GTTT | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01070.hp1 HG01123.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0002t0007 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0035 others(5): Show |
16 | 49 | 0.3265 | 3 | c.-14 others(14): Show |
VPS4A | ENSG00000132612.16 | transcript | ENST00000254950.13 | protein_coding | 1279 | chr16 | TogoVar | |||||||
VPS4A_chr16_69306350_69331939 | 69313985 | C | CTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00621.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0010others(5): Show | a0001c0001t0001g0089 a0001c0002t0002g0005 a0001c0002t0002g0010 others(18): Show |
32 | 329 | 0.0973 | 3 | c.22- others(18): Show |
VPS4A | ENSG00000132612.16 | transcript | ENST00000254950.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS4A_chr16_69306350_69331939 | 69317248 | A | ACAG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(110): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0001g0089 a0001c0001t0001g0117 a0001c0001t0003g0015 others(80): Show |
113 | 364 | 0.3104 | 3 | c.281 others(18): Show |
VPS4A | ENSG00000132612.16 | transcript | ENST00000254950.13 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS4A_chr16_69306350_69331939 | 69323943 | C | CAAA | intron_variant | MODIFIER | HG00280.hp1 HG01169.hp1 HG01192.hp2 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006a0001c0002t0008others(2): Show | a0001c0002t0002g0010 a0001c0002t0002g0026 a0001c0002t0002g0027 others(8): Show |
13 | 288 | 0.0451 | 3 | c.121 others(20): Show |
VPS4A | ENSG00000132612.16 | transcript | ENST00000254950.13 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
VPS4A_chr16_69306350_69331939 | 69327160 | C | CTTT | downstream_gene_variant | MODIFIER | HG01346.hp1 HG01361.hp2 HG01891.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0022 a0001c0003t0004g0051 a0001c0003t0004g0053 others(4): Show |
7 | 248 | 0.0282 | 3 | c.*28 others(14): Show |
VPS4A | ENSG00000132612.16 | transcript | ENST00000254950.13 | protein_coding | 222 | chr16 | TogoVar | |||||||
VPS4A_chr16_69306350_69331939 | 69331453 | C | CAAA | downstream_gene_variant | MODIFIER | HG00544.hp1 HG01346.hp1 HG01361.hp2 others(5): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0021a0001c0003t0004 | a0001c0002t0021g0096 a0001c0003t0004g0053 a0001c0003t0004g0054 others(5): Show |
8 | 197 | 0.0406 | 3 | c.*71 others(14): Show |
VPS4A | ENSG00000132612.16 | transcript | ENST00000254950.13 | protein_coding | 4515 | chr16 | TogoVar | |||||||
VPS4B_chr18_63384190_63427476 | 63425936 | C | CAAA | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(88): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(51): Show |
91 | 174 | 0.5230 | 3 | c.-36 others(14): Show |
VPS4B | ENSG00000119541.10 | transcript | ENST00000238497.10 | protein_coding | 3461 | chr18 | TogoVar | |||||||
VPS50_chr7_93227366_93366123 | 93308118 | A | AGAT | intron_variant | MODIFIER | HG00738.hp2 HG02004.hp2 HG03490.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001a0001c0003t0023 | a0001c0002t0001g0238 a0001c0003t0001g0001 a0001c0003t0001g0160 others(1): Show |
6 | 117 | 0.0513 | 3 | c.163 others(20): Show |
VPS50 | ENSG00000004766.17 | transcript | ENST00000305866.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VPS50_chr7_93227366_93366123 | 93322754 | A | AGAT | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02257.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0013 | a0001c0001t0009g0250 a0001c0001t0009g0253 a0001c0001t0009g0254 others(5): Show |
8 | 314 | 0.0255 | 3 | c.185 others(20): Show |
VPS50 | ENSG00000004766.17 | transcript | ENST00000305866.10 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VPS50_chr7_93227366_93366123 | 93330761 | C | CAAA | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00609.hp1 others(94): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0025 others(93): Show |
97 | 101 | 0.9604 | 3 | c.197 others(22): Show |
VPS50 | ENSG00000004766.17 | transcript | ENST00000305866.10 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VPS50_chr7_93227366_93366123 | 93330997 | T | TAAA | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00558.hp1 others(218): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0012others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0014 others(215): Show |
221 | 314 | 0.7038 | 3 | c.197 others(22): Show |
VPS50 | ENSG00000004766.17 | transcript | ENST00000305866.10 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VPS50_chr7_93227366_93366123 | 93344708 | G | GAAC | intron_variant | MODIFIER | HG02622.hp2 HG02818.hp2 HG02970.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0002a0001c0002t0014a0003c0007t0002others(1): Show | a0001c0001t0002g0295 a0001c0001t0002g0299 a0001c0001t0002g0300 others(5): Show |
8 | 314 | 0.0255 | 3 | c.220 others(22): Show |
VPS50 | ENSG00000004766.17 | transcript | ENST00000305866.10 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VPS52_chr6_33245278_33276876 | 33247230 | C | CTTT | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG01433.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0010 | a0001c0001t0002a0001c0002t0001a0002c0010t0002 | a0001c0001t0002g0021 a0001c0002t0001g0001 a0001c0002t0001g0003 others(10): Show |
14 | 112 | 0.1250 | 3 | c.*36 others(14): Show |
VPS52 | ENSG00000223501.9 | transcript | ENST00000445902.3 | protein_coding | 3047 | chr6 | TogoVar | |||||||
VPS52_chr6_33245278_33276876 | 33247403 | T | TTTA | downstream_gene_variant | MODIFIER | HG00741.hp2 HG02027.hp2 HG02055.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0003others(2): Show | a0001c0001t0001g0144 a0001c0002t0001g0017 a0001c0002t0001g0209 others(16): Show |
22 | 324 | 0.0679 | 3 | c.*34 others(14): Show |
VPS52 | ENSG00000223501.9 | transcript | ENST00000445902.3 | protein_coding | 2874 | chr6 | TogoVar | |||||||
VPS52_chr6_33245278_33276876 | 33262040 | C | CAAA | intron_variant | MODIFIER | HG01433.hp2 HG01928.hp1 HG02027.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0008others(3): Show | a0001c0001t0001g0200 a0001c0002t0001g0077 a0001c0002t0001g0091 others(10): Show |
14 | 110 | 0.1273 | 3 | c.179 others(22): Show |
VPS52 | ENSG00000223501.9 | transcript | ENST00000445902.3 | protein_coding | 17/19 | chr6 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 524303 | A | AAAG | intron_variant | MODIFIER | HG01074.hp2 HG01168.hp2 HG02074.hp2 others(13): Show |
a0001a0002a0003 | a0001c0002a0001c0005a0001c0011others(3): Show | a0001c0002t0010a0001c0002t0021a0001c0002t0045others(12): Show | a0001c0002t0010g0057 a0001c0002t0021g0087 a0001c0002t0045g0064 others(13): Show |
16 | 230 | 0.0696 | 3 | c.208 others(22): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 19/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 525996 | C | CAAA | intron_variant | MODIFIER | HG00423.hp1 HG01257.hp1 HG01258.hp2 others(8): Show |
a0001a0002a0004 | a0001c0001a0001c0007a0001c0015others(2): Show | a0001c0001t0036a0001c0001t0081a0001c0001t0116others(8): Show | a0001c0001t0036g0204 a0001c0001t0081g0046 a0001c0001t0116g0211 others(8): Show |
11 | 137 | 0.0803 | 3 | c.208 others(22): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 19/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 531773 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG01175.hp1 HG01192.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0037a0001c0001t0105a0001c0002t0058others(4): Show | a0001c0001t0037g0126 a0001c0001t0105g0148 a0001c0002t0058g0084 others(5): Show |
8 | 64 | 0.1250 | 3 | c.208 others(22): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 19/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 619223 | C | CGCA | intron_variant | MODIFIER | HG00423.hp2 NA18950.hp1 NA18961.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0091 | a0001c0001t0015g0130 a0001c0001t0015g0131 a0001c0001t0015g0135 others(1): Show |
4 | 230 | 0.0174 | 3 | c.111 others(22): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 11/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 624995 | C | CTTT | intron_variant | MODIFIER | HG02135.hp2 HG02602.hp1 NA18747.hp1 others(6): Show |
a0001 | a0001c0005 | a0001c0005t0010a0001c0005t0021a0001c0005t0046others(5): Show | a0001c0005t0010g0007 a0001c0005t0010g0008 a0001c0005t0021g0006 others(6): Show |
9 | 152 | 0.0592 | 3 | c.975 others(20): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 10/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 661520 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01099.hp2 others(9): Show |
a0001 | a0001c0002a0001c0006a0001c0016 | a0001c0002t0010a0001c0006t0001a0001c0006t0022others(7): Show | a0001c0002t0010g0057 a0001c0006t0001g0097 a0001c0006t0001g0113 others(9): Show |
12 | 110 | 0.1091 | 3 | c.372 others(18): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 5/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 675767 | C | CAAA | intron_variant | MODIFIER | HG02135.hp2 HG02602.hp1 NA18747.hp1 others(5): Show |
a0001 | a0001c0005 | a0001c0005t0010a0001c0005t0021a0001c0005t0044others(4): Show | a0001c0005t0010g0007 a0001c0005t0010g0008 a0001c0005t0021g0006 others(5): Show |
8 | 115 | 0.0696 | 3 | c.286 others(22): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 4/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 715353 | C | CTTT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp2 others(68): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0006others(8): Show | a0001c0001t0002a0001c0001t0016a0001c0001t0017others(54): Show | a0001c0001t0002g0121 a0001c0001t0002g0133 a0001c0001t0002g0134 others(68): Show |
71 | 77 | 0.9221 | 3 | c.-64 others(12): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 515 | chr17 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 63895699 | A | ACTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(47): Show |
a0001a0002a0005 | a0001c0001a0002c0006a0005c0009 | a0001c0001t0001a0002c0006t0001a0005c0009t0001 | a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 others(47): Show |
50 | 302 | 0.1656 | 3 | c.282 others(22): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 22/22 | chr2 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 63904438 | C | CAAA | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00558.hp2 others(36): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0009 | a0001c0001t0001a0002c0002t0001a0005c0009t0001 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 others(36): Show |
39 | 169 | 0.2308 | 3 | c.262 others(22): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 20/22 | chr2 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 63938059 | G | GTGT | intron_variant | MODIFIER | HG01070.hp1 HG01074.hp1 HG01515.hp2 others(17): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0010t0001 | a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 others(17): Show |
20 | 122 | 0.1639 | 3 | c.139 others(22): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 11/22 | chr2 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 63951206 | C | CTTT | intron_variant | MODIFIER | HG01099.hp1 HG01192.hp2 HG01255.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0041 others(8): Show |
11 | 140 | 0.0786 | 3 | c.101 others(22): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 7/22 | chr2 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 63968863 | C | CAAA | intron_variant | MODIFIER | HG02145.hp1 HG02559.hp2 HG02630.hp2 others(8): Show |
a0003 | a0003c0005 | a0003c0005t0001a0003c0005t0006a0003c0005t0009 | a0003c0005t0001g0005 a0003c0005t0001g0007 a0003c0005t0001g0009 others(8): Show |
11 | 180 | 0.0611 | 3 | c.492 others(16): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 5/22 | chr2 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 63983444 | A | ATTT | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00733.hp2 others(8): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0281 a0001c0003t0003g0284 a0001c0003t0003g0293 others(8): Show |
11 | 223 | 0.0493 | 3 | c.136 others(18): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 2/22 | chr2 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 64005089 | C | CTTT | intron_variant | MODIFIER | HG00735.hp2 HG01516.hp1 HG01517.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0274 others(4): Show |
7 | 32 | 0.2188 | 3 | c.-21 others(22): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
VPS8_chr3_184807166_185057604 | 184925772 | A | ATTT | intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG02717.hp1 others(11): Show |
a0003a0004a0006 | a0003c0016a0004c0003a0006c0007others(1): Show | a0003c0016t0001a0004c0003t0001a0004c0003t0003others(2): Show | a0003c0016t0001g0032 a0003c0016t0001g0041 a0004c0003t0001g0018 others(11): Show |
14 | 242 | 0.0579 | 3 | c.257 others(20): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 30/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184938649 | C | CTTT | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG02970.hp1 others(3): Show |
a0004 | a0004c0003 | a0004c0003t0001a0004c0003t0003 | a0004c0003t0001g0018 a0004c0003t0001g0019 a0004c0003t0003g0033 others(3): Show |
6 | 202 | 0.0297 | 3 | c.298 others(22): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 35/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184949878 | T | TTTG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(104): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0010a0001c0023others(7): Show | a0001c0001t0002a0001c0010t0002a0001c0023t0002others(7): Show | a0001c0001t0002g0074 a0001c0001t0002g0079 a0001c0001t0002g0080 others(104): Show |
107 | 272 | 0.3934 | 3 | c.303 others(22): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 36/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184950216 | C | CTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00673.hp2 others(58): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0032a0004c0006others(2): Show | a0001c0001t0002a0003c0032t0004a0004c0006t0003others(2): Show | a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0085 others(58): Show |
61 | 73 | 0.8356 | 3 | c.303 others(22): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 36/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 185003156 | A | ATTT | intron_variant | MODIFIER | HG01074.hp2 HG02257.hp1 HG02257.hp2 others(6): Show |
a0004a0006 | a0004c0008a0004c0018a0004c0041others(2): Show | a0004c0008t0003a0004c0018t0001a0004c0041t0003others(2): Show | a0004c0008t0003g0063 a0004c0018t0001g0059 a0004c0041t0003g0062 others(6): Show |
9 | 31 | 0.2903 | 3 | c.400 others(22): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 45/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 185031063 | G | GTTT | intron_variant | MODIFIER | HG00673.hp1 HG01175.hp1 HG01358.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0022a0001c0025others(3): Show | a0001c0001t0002a0001c0022t0004a0001c0025t0003others(3): Show | a0001c0001t0002g0263 a0001c0022t0004g0191 a0001c0025t0003g0022 others(8): Show |
11 | 148 | 0.0743 | 3 | c.405 others(22): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 185034609 | T | TTTG | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(76): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0023a0002c0002others(9): Show | a0001c0001t0002a0001c0023t0002a0002c0002t0001others(12): Show | a0001c0001t0002g0094 a0001c0001t0002g0128 a0001c0001t0002g0181 others(76): Show |
79 | 194 | 0.4072 | 3 | c.405 others(24): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 185056680 | C | CAAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(109): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0022a0001c0025others(17): Show | a0001c0001t0002a0001c0022t0004a0001c0025t0003others(23): Show | a0001c0001t0002g0157 a0001c0022t0004g0191 a0001c0025t0003g0022 others(109): Show |
112 | 218 | 0.5138 | 3 | c.*46 others(14): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 4077 | chr3 | TogoVar | |||||||
VRK1_chr14_96792382_96886609 | 96794475 | T | TTTC | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG00738.hp2 others(75): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0025 others(67): Show |
78 | 185 | 0.4216 | 3 | c.-29 others(14): Show |
VRK1 | ENSG00000100749.9 | transcript | ENST00000216639.8 | protein_coding | 2906 | chr14 | TogoVar |