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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VPS13D_chr1_12225030_12517047 | 12305968 | CTATTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(10): Show |
a0001a0006 | a0001c0002a0001c0006a0001c0008others(1): Show | a0001c0002t0008a0001c0006t0003a0001c0006t0010others(2): Show | a0001c0002t0008g0044 a0001c0006t0003g0004 a0001c0006t0003g0007 others(10): Show |
13 | 152 | 0.0855 | -12 | c.643 others(31): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 26/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12381922 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG01884.hp1 |
a0001a0003 | a0001c0014a0003c0007 | a0001c0014t0012a0003c0007t0007 | a0001c0014t0012g0075 a0003c0007t0007g0153 |
2 | 80 | 0.0250 | -12 | c.111 others(32): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12395996 | GATATATA others(5): Show |
G | intron_variant | MODIFIER | HG03486.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 a0001c0001t0001g0124 |
2 | 107 | 0.0187 | -12 | c.116 others(33): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12399198 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0078 | 1 | 147 | 0.0068 | -12 | c.116 others(31): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12456636 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01099.hp1 HG06807.hp2 |
a0002a0014 | a0002c0004a0014c0020 | a0002c0004t0001a0014c0020t0023 | a0002c0004t0001g0094 a0002c0004t0001g0095 a0014c0020t0023g0077 |
3 | 12 | 0.2500 | -12 | c.124 others(31): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 66/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS16_chr20_2835745_2871732 | 2845007 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG03239.hp1 HG04228.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073 a0001c0002t0001g0103 |
2 | 118 | 0.0169 | -12 | c.53+ others(27): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69149727 | GTTTTTTG others(5): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0296 a0001c0002t0018g0297 |
2 | 185 | 0.0108 | -12 | c.154 others(29): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69167742 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0296 a0001c0002t0018g0297 |
2 | 137 | 0.0146 | -12 | c.728 others(27): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS29_chr12_110486083_110507111 | 110492599 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0016 others(17): Show |
73 | 106 | 0.6887 | -12 | c.431 others(27): Show |
VPS29 | ENSG00000111237.19 | transcript | ENST00000549578.6 | protein_coding | 3/3 | chr12 | TogoVar | |||||||
VPS33A_chr12_122224564_122271494 | 122238770 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01891.hp2 NA21309.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0255 a0002c0002t0003g0259 |
2 | 112 | 0.0179 | -12 | c.116 others(27): Show |
VPS33A | ENSG00000139719.11 | transcript | ENST00000267199.9 | protein_coding | 9/12 | chr12 | TogoVar | |||||||
VPS33A_chr12_122224564_122271494 | 122238992 | TACATACA others(5): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG06807.hp1 NA18522.hp1 |
a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0280 a0001c0003t0010g0281 a0001c0003t0010g0282 |
3 | 344 | 0.0087 | -12 | c.116 others(29): Show |
VPS33A | ENSG00000139719.11 | transcript | ENST00000267199.9 | protein_coding | 9/12 | chr12 | TogoVar | |||||||
VPS33A_chr12_122224564_122271494 | 122259187 | GTGTATGT others(5): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG02083.hp1 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0047 a0001c0001t0002g0046 a0001c0004t0001g0006 others(5): Show |
11 | 97 | 0.1134 | -12 | c.483 others(29): Show |
VPS33A | ENSG00000139719.11 | transcript | ENST00000267199.9 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
VPS33B_chr15_90993673_91027594 | 91016375 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03579.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 a0001c0001t0001g0053 |
2 | 307 | 0.0065 | -12 | c.239 others(27): Show |
VPS33B | ENSG00000184056.15 | transcript | ENST00000333371.8 | protein_coding | 3/22 | chr15 | TogoVar | |||||||
VPS33B_chr15_90993673_91027594 | 91017367 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(75): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(52): Show |
78 | 205 | 0.3805 | -12 | c.178 others(27): Show |
VPS33B | ENSG00000184056.15 | transcript | ENST00000333371.8 | protein_coding | 2/22 | chr15 | TogoVar | |||||||
VPS33B_chr15_90993673_91027594 | 91022836 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(139): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0003t0001others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(105): Show |
142 | 194 | 0.7320 | -12 | c.-59 others(21): Show |
VPS33B | ENSG00000184056.15 | transcript | ENST00000333371.8 | protein_coding | 243 | chr15 | TogoVar | |||||||
VPS35L_chr16_19550703_19706163 | 19570834 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG03139.hp2 HG03927.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0145 a0001c0001t0001g0197 a0001c0002t0001g0014 others(4): Show |
7 | 25 | 0.2800 | -12 | c.285 others(29): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19623766 | TTTATTAT others(5): Show |
T | intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 196 | 0.0051 | -12 | c.122 others(31): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 14/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19623805 | ATTATTAT others(5): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG02280.hp2 HG03453.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0002g0056 a0001c0001t0003g0275 a0001c0002t0001g0027 others(3): Show |
6 | 282 | 0.0213 | -12 | c.122 others(31): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 14/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19630326 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00741.hp2 others(58): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(4): Show | a0001c0001t0001g0129 a0001c0001t0001g0167 a0001c0001t0001g0216 others(58): Show |
61 | 239 | 0.2552 | -12 | c.155 others(29): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 18/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19636139 | TCATGCCA others(5): Show |
T | intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 282 | 0.0035 | -12 | c.163 others(31): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19666872 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG00733.hp2 others(43): Show |
a0001a0002a0004 | a0001c0002a0001c0006a0001c0007others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0006t0001others(4): Show | a0001c0002t0001g0002 a0001c0002t0001g0009 a0001c0002t0001g0012 others(43): Show |
46 | 195 | 0.2359 | -12 | c.222 others(31): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19674458 | AGTGCTGG others(5): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0013 | a0001c0013t0003 | a0001c0013t0003g0058 | 1 | 282 | 0.0035 | -12 | c.236 others(31): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19679468 | ATTATTTA others(5): Show |
A | intron_variant | MODIFIER | HG02135.hp2 HG02698.hp2 HG03579.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0115 a0001c0001t0001g0145 a0001c0001t0001g0165 others(6): Show |
9 | 93 | 0.0968 | -12 | c.236 others(31): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19679507 | ATTTATTT others(5): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG01099.hp2 others(53): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0006a0001c0002t0001a0001c0002t0004others(4): Show | a0001c0001t0006g0253 a0001c0002t0001g0007 a0001c0002t0001g0037 others(53): Show |
56 | 282 | 0.1986 | -12 | c.236 others(31): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35_chr16_46651132_46694178 | 46669670 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | NA18951.hp2 NA18954.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0075 a0001c0001t0006g0080 |
2 | 218 | 0.0092 | -12 | c.152 others(29): Show |
VPS35 | ENSG00000069329.19 | transcript | ENST00000299138.12 | protein_coding | 12/16 | chr16 | TogoVar | |||||||
VPS36_chr13_52407606_52455634 | 52445853 | TGGCGTGA others(5): Show |
T | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 336 | 0.0030 | -12 | c.97- others(27): Show |
VPS36 | ENSG00000136100.14 | transcript | ENST00000378060.9 | protein_coding | 1/13 | chr13 | TogoVar | |||||||
VPS37A_chr8_17241958_17303024 | 17256290 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0011 | 2 | 80 | 0.0250 | -12 | c.125 others(29): Show |
VPS37A | ENSG00000155975.10 | transcript | ENST00000324849.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS37A_chr8_17241958_17303024 | 17277861 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG02280.hp2 HG02647.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0013a0001c0002t0038 | a0001c0001t0010g0154 a0001c0001t0013g0306 a0001c0001t0013g0329 others(2): Show |
5 | 117 | 0.0427 | -12 | c.713 others(29): Show |
VPS37A | ENSG00000155975.10 | transcript | ENST00000324849.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS37B_chr12_122860330_122901124 | 122899050 | AACACACA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG01106.hp1 others(49): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(39): Show |
52 | 58 | 0.8966 | -12 | c.-30 others(23): Show |
VPS37B | ENSG00000139722.7 | transcript | ENST00000267202.7 | protein_coding | 2927 | chr12 | TogoVar | |||||||
VPS39_chr15_42153701_42213304 | 42170741 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03486.hp2 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0005 | 3 | 71 | 0.0423 | -12 | c.109 others(29): Show |
VPS39 | ENSG00000166887.16 | transcript | ENST00000318006.10 | protein_coding | 11/24 | chr15 | TogoVar | |||||||
VPS39_chr15_42153701_42213304 | 42177162 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0013 | a0001c0013t0002 | a0001c0013t0002g0078 | 1 | 197 | 0.0051 | -12 | c.960 others(29): Show |
VPS39 | ENSG00000166887.16 | transcript | ENST00000318006.10 | protein_coding | 10/24 | chr15 | TogoVar | |||||||
VPS39_chr15_42153701_42213304 | 42179575 | CAATAAAT others(5): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG00733.hp2 HG01081.hp1 others(51): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002a0001c0003t0004others(4): Show | a0001c0001t0001g0198 a0001c0001t0001g0211 a0001c0001t0001g0212 others(47): Show |
54 | 126 | 0.4286 | -12 | c.719 others(29): Show |
VPS39 | ENSG00000166887.16 | transcript | ENST00000318006.10 | protein_coding | 8/24 | chr15 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38720554 | GTGTGTGT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0208 | 1 | 256 | 0.0039 | -12 | c.*56 others(23): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 2419 | chr7 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38720556 | GTGTGTGT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0031 | a0001c0003t0031g0257 | 1 | 245 | 0.0041 | -12 | c.*56 others(23): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 2417 | chr7 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38720558 | GTGTGTAT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG02155.hp2 HG02735.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0005g0036 others(1): Show |
4 | 219 | 0.0183 | -12 | c.*56 others(23): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 2415 | chr7 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38761263 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0127 | 1 | 2 | 0.5000 | -12 | c.142 others(31): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 17/28 | chr7 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38846038 | CAAGTCAC others(5): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0128 | 1 | 276 | 0.0036 | -12 | c.247 others(31): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 4/28 | chr7 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38860697 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(62): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(59): Show |
65 | 82 | 0.7927 | -12 | c.246 others(29): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 4/28 | chr7 | TogoVar | |||||||
VPS4A_chr16_69306350_69331939 | 69310070 | GTTTTTTT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01255.hp1 HG02055.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0006others(1): Show | a0001c0001t0001g0008 a0001c0001t0003g0016 a0001c0001t0003g0077 others(5): Show |
9 | 42 | 0.2143 | -12 | c.-14 others(23): Show |
VPS4A | ENSG00000132612.16 | transcript | ENST00000254950.13 | protein_coding | 1279 | chr16 | TogoVar | |||||||
VPS4B_chr18_63384190_63427476 | 63387072 | TCACACAC others(5): Show |
T | downstream_gene_variant | MODIFIER | HG01081.hp2 HG02071.hp2 HG02083.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0020 | a0001c0001t0003g0005 a0001c0001t0003g0019 a0001c0001t0003g0042 others(12): Show |
25 | 236 | 0.1059 | -12 | c.*38 others(23): Show |
VPS4B | ENSG00000119541.10 | transcript | ENST00000238497.10 | protein_coding | 2117 | chr18 | TogoVar | |||||||
VPS52_chr6_33245278_33276876 | 33245913 | TCACACAC others(5): Show |
T | downstream_gene_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG02258.hp2 others(9): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0003a0001c0005t0003 | a0001c0003t0003g0038 a0001c0003t0003g0039 a0001c0003t0003g0226 others(7): Show |
12 | 108 | 0.1111 | -12 | c.*49 others(23): Show |
VPS52 | ENSG00000223501.9 | transcript | ENST00000445902.3 | protein_coding | 4364 | chr6 | TogoVar | |||||||
VPS52_chr6_33245278_33276876 | 33252588 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 110 | 0.0091 | -12 | c.179 others(29): Show |
VPS52 | ENSG00000223501.9 | transcript | ENST00000445902.3 | protein_coding | 17/19 | chr6 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 543805 | AAGGAAGG others(5): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG03516.hp2 |
a0001 | a0001c0002a0001c0014 | a0001c0002t0075a0001c0014t0128 | a0001c0002t0075g0041 a0001c0014t0128g0166 |
2 | 230 | 0.0087 | -12 | c.186 others(31): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 17/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 543813 | AAGGGAGG others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0135 | a0001c0002t0135g0226 | 1 | 197 | 0.0051 | -12 | c.186 others(31): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 17/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 543839 | GGGAGGGA others(5): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0081 | a0001c0001t0081g0046 | 1 | 230 | 0.0043 | -12 | c.186 others(31): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 17/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 546329 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG03516.hp2 |
a0001 | a0001c0002a0001c0014 | a0001c0002t0075a0001c0014t0128 | a0001c0002t0075g0041 a0001c0014t0128g0166 |
2 | 27 | 0.0741 | -12 | c.186 others(31): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 17/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 546870 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0213 | 1 | 31 | 0.0323 | -12 | c.186 others(31): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 17/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 610127 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG01074.hp2 HG01081.hp2 others(34): Show |
a0001a0003a0007 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0015others(22): Show | a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0134 others(34): Show |
37 | 39 | 0.9487 | -12 | c.111 others(31): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 11/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 629809 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | NA18986.hp1 | a0002 | a0002c0003 | a0002c0003t0040 | a0002c0003t0040g0115 | 1 | 10 | 0.1000 | -12 | c.688 others(29): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 8/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 656700 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01346.hp2 HG01884.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0031a0001c0001t0032a0001c0001t0034others(9): Show | a0001c0001t0031g0196 a0001c0001t0031g0197 a0001c0001t0032g0150 others(12): Show |
15 | 18 | 0.8333 | -12 | c.373 others(27): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 5/21 | chr17 | TogoVar |