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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
USP20_chr9_129830458_129886828 | 129846247 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0251 | 1 | 104 | 0.0096 | 27 | c.-12 others(46): Show |
USP20 | ENSG00000136878.14 | transcript | ENST00000372429.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
USP20_chr9_129830458_129886828 | 129846247 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0255 | 1 | 104 | 0.0096 | 27 | c.-12 others(46): Show |
USP20 | ENSG00000136878.14 | transcript | ENST00000372429.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
USP22_chr17_20994596_21048011 | 21027292 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0037 | 1 | 109 | 0.0092 | 27 | c.304 others(44): Show |
USP22 | ENSG00000124422.12 | transcript | ENST00000261497.9 | protein_coding | 2/12 | chr17 | TogoVar | |||||||
USP26_chrX_133018168_133102109 | 133057866 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0058 | 1 | 43 | 0.0233 | 27 | c.-77 others(46): Show |
USP26 | ENSG00000134588.13 | transcript | ENST00000511190.6 | protein_coding | 5/5 | chrX | TogoVar | |||||||
USP26_chrX_133018168_133102109 | 133057866 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01884.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0002t0002g0087 others(1): Show |
4 | 46 | 0.0870 | 27 | c.-77 others(46): Show |
USP26 | ENSG00000134588.13 | transcript | ENST00000511190.6 | protein_coding | 5/5 | chrX | TogoVar | |||||||
USP26_chrX_133018168_133102109 | 133057866 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 43 | 0.0233 | 27 | c.-77 others(46): Show |
USP26 | ENSG00000134588.13 | transcript | ENST00000511190.6 | protein_coding | 5/5 | chrX | TogoVar | |||||||
USP26_chrX_133018168_133102109 | 133057866 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0090 | 1 | 43 | 0.0233 | 27 | c.-77 others(46): Show |
USP26 | ENSG00000134588.13 | transcript | ENST00000511190.6 | protein_coding | 5/5 | chrX | TogoVar | |||||||
USP33_chr1_77690987_77764852 | 77750624 | A | AAAGAAAG others(20): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0271 | 1 | 139 | 0.0072 | 27 | c.-51 others(44): Show |
USP33 | ENSG00000077254.14 | transcript | ENST00000370794.7 | protein_coding | 1/23 | chr1 | TogoVar | |||||||
USP35_chr11_78183919_78220232 | 78194106 | A | ACCACTGA others(20): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(125): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0007a0001c0028others(15): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(41): Show | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 others(107): Show |
128 | 414 | 0.3092 | 27 | c.-10 others(44): Show |
USP35 | ENSG00000118369.13 | transcript | ENST00000529308.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
USP39_chr2_85611186_85654283 | 85654167 | G | GGCTGTCT others(20): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 348 | 0.0029 | 27 | c.*53 others(38): Show |
USP39 | ENSG00000168883.20 | transcript | ENST00000323701.11 | protein_coding | 4885 | chr2 | TogoVar | |||||||
USP3_chr15_63499593_63599633 | 63587373 | G | GATTGCAT others(20): Show |
intron_variant | MODIFIER | HG00408.hp2 NA18980.hp1 NA19000.hp2 |
a0001 | a0001c0005 | a0001c0005t0025a0001c0005t0048 | a0001c0005t0025g0206 a0001c0005t0025g0207 a0001c0005t0048g0205 |
3 | 232 | 0.0129 | 27 | c.109 others(44): Show |
USP3 | ENSG00000140455.17 | transcript | ENST00000380324.8 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
USP45_chr6_99427325_99520423 | 99473802 | A | ACACACAC others(20): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0009 | a0009c0023 | a0009c0023t0007 | a0009c0023t0007g0149 | 1 | 400 | 0.0025 | 27 | c.933 others(44): Show |
USP45 | ENSG00000123552.18 | transcript | ENST00000500704.7 | protein_coding | 9/17 | chr6 | TogoVar | |||||||
USP46_chr4_52585960_52664301 | 52632981 | A | AAAGAAAG others(20): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 188 | 0.0053 | 27 | c.37- others(42): Show |
USP46 | ENSG00000109189.13 | transcript | ENST00000441222.8 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
USP48_chr1_21673298_21788149 | 21694601 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0175 | 1 | 344 | 0.0029 | 27 | c.288 others(44): Show |
USP48 | ENSG00000090686.16 | transcript | ENST00000308271.14 | protein_coding | 23/26 | chr1 | TogoVar | |||||||
USP54_chr10_73492538_73596342 | 73569902 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 20 | 0.0500 | 27 | c.240 others(44): Show |
USP54 | ENSG00000166348.20 | transcript | ENST00000687698.1 | protein_coding | 4/23 | chr10 | TogoVar | |||||||
USP8_chr15_50419405_50519421 | 50445545 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0258 | a0001c0001t0258g0189 | 1 | 9 | 0.1111 | 27 | c.250 others(44): Show |
USP8 | ENSG00000138592.14 | transcript | ENST00000307179.9 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
USP8_chr15_50419405_50519421 | 50450462 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0002 | a0002c0003 | a0002c0003t0137 | a0002c0003t0137g0003 | 1 | 117 | 0.0085 | 27 | c.335 others(44): Show |
USP8 | ENSG00000138592.14 | transcript | ENST00000307179.9 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
USP9X_chrX_41080445_41241579 | 41161635 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG03486.hp2 HG03491.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0134 a0001c0001t0001g0213 others(1): Show |
4 | 98 | 0.0408 | 27 | c.189 others(46): Show |
USP9X | ENSG00000124486.15 | transcript | ENST00000378308.7 | protein_coding | 14/44 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
UTP20_chr12_101275105_101391618 | 101310595 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0005 | a0005c0019 | a0005c0019t0001 | a0005c0019t0001g0173 | 1 | 325 | 0.0031 | 27 | c.223 others(44): Show |
UTP20 | ENSG00000120800.5 | transcript | ENST00000261637.5 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UTP3_chr4_70683532_70695551 | 70685991 | A | AAAAAAAA others(20): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0000 | 1 | 320 | 0.0031 | 27 | c.-26 others(38): Show |
UTP3 | ENSG00000132467.4 | transcript | ENST00000254803.4 | protein_coding | 2540 | chr4 | TogoVar | |||||||
UTRN_chr6_144280335_144858034 | 144347837 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0119 | 1 | 79 | 0.0127 | 27 | c.80- others(44): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 2/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144690095 | T | TTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0007 | a0002c0007t0008 | a0002c0007t0008g0030 | 1 | 35 | 0.0286 | 27 | c.765 others(46): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 52/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
VAMP4_chr1_171695160_171747065 | 171698778 | A | ATACATAT others(20): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00597.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(5): Show | a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0023 others(34): Show |
47 | 362 | 0.1298 | 27 | c.*57 others(38): Show |
VAMP4 | ENSG00000117533.15 | transcript | ENST00000236192.12 | protein_coding | 1381 | chr1 | TogoVar | |||||||
VAPB_chr20_58384229_58456101 | 58430284 | G | GGCTGTAA others(20): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 368 | 0.0027 | 27 | c.212 others(44): Show |
VAPB | ENSG00000124164.16 | transcript | ENST00000475243.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
VASP_chr19_45502479_45531983 | 45513468 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01168.hp2 HG01975.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0087 others(6): Show |
11 | 155 | 0.0710 | 27 | c.6-4 others(40): Show |
VASP | ENSG00000125753.15 | transcript | ENST00000245932.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
VAT1L_chr16_77783564_77985107 | 77805865 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG00673.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0062 a0001c0001t0001g0142 a0001c0001t0001g0199 others(14): Show |
17 | 131 | 0.1298 | 27 | c.234 others(46): Show |
VAT1L | ENSG00000171724.3 | transcript | ENST00000302536.3 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VAT1L_chr16_77783564_77985107 | 77895100 | C | CACACACA others(20): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0296 | 1 | 23 | 0.0435 | 27 | c.107 others(48): Show |
VAT1L | ENSG00000171724.3 | transcript | ENST00000302536.3 | protein_coding | 7/8 | chr16 | TogoVar | |||||||
VAV1_chr19_6767708_6862361 | 6774427 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 195 | 0.0051 | 27 | c.204 others(44): Show |
VAV1 | ENSG00000141968.8 | transcript | ENST00000602142.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
VCAN_chr5_83466744_83587302 | 83579897 | T | TAAAGAAA others(20): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0009 | a0009c0016 | a0009c0016t0002 | a0009c0016t0002g0022 | 1 | 348 | 0.0029 | 27 | c.988 others(42): Show |
VCAN | ENSG00000038427.16 | transcript | ENST00000265077.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
VCL_chr10_73993116_74125169 | 74123585 | T | TAGGAGGA others(20): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0220 | 1 | 262 | 0.0038 | 27 | c.*54 others(38): Show |
VCL | ENSG00000035403.18 | transcript | ENST00000211998.10 | protein_coding | 3417 | chr10 | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8466948 | G | GGAAGAGG others(20): Show |
downstream_gene_variant | MODIFIER | NA18969.hp2 | a0034 | a0034c0040 | a0034c0040t0015 | a0034c0040t0015g0019 | 1 | 270 | 0.0037 | 27 | c.*56 others(36): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 439 | chrX | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8467359 | G | GTGTGGGT others(20): Show |
downstream_gene_variant | MODIFIER | HG01169.hp2 | a0004 | a0004c0005 | a0004c0005t0014 | a0004c0005t0014g0001 | 1 | 270 | 0.0037 | 27 | c.*97 others(36): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 850 | chrX | TogoVar | |||||||
VCX_chrX_7838171_7849143 | 7844261 | G | GGTGTGTG others(20): Show |
downstream_gene_variant | MODIFIER | HG02273.hp1 | a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0003 | 1 | 234 | 0.0043 | 27 | c.*24 others(36): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 119 | chrX | TogoVar | |||||||
VEPH1_chr3_157254742_157508416 | 157304019 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03927.hp2 HG04115.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0237 a0001c0001t0001g0267 a0001c0001t0001g0272 others(3): Show |
6 | 261 | 0.0230 | 27 | c.201 others(46): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 11/13 | chr3 | TogoVar | |||||||
VEPH1_chr3_157254742_157508416 | 157304023 | T | TTTATATA others(20): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 92 | 0.0109 | 27 | c.201 others(46): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 11/13 | chr3 | TogoVar | |||||||
VGLL2_chr6_117260558_117278565 | 117273683 | T | TTAGATAG others(20): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG01081.hp2 others(46): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0008g0041 others(9): Show |
49 | 331 | 0.1480 | 27 | c.*11 others(38): Show |
VGLL2 | ENSG00000170162.14 | transcript | ENST00000326274.6 | protein_coding | 119 | chr6 | TogoVar | |||||||
VGLL3_chr3_86932973_86996149 | 86995540 | A | AATATATA others(20): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG03017.hp2 HG03453.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0055 | a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0209 others(5): Show |
8 | 356 | 0.0225 | 27 | c.-47 others(38): Show |
VGLL3 | ENSG00000206538.9 | transcript | ENST00000398399.7 | protein_coding | 4392 | chr3 | TogoVar | |||||||
VIPR1_chr3_42497643_42542568 | 42522101 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0007 | a0007c0013 | a0007c0013t0003 | a0007c0013t0003g0277 | 1 | 206 | 0.0049 | 27 | c.292 others(44): Show |
VIPR1 | ENSG00000114812.13 | transcript | ENST00000325123.5 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VIPR1_chr3_42497643_42542568 | 42522101 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0304 | 1 | 206 | 0.0049 | 27 | c.292 others(44): Show |
VIPR1 | ENSG00000114812.13 | transcript | ENST00000325123.5 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VIPR1_chr3_42497643_42542568 | 42522101 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0260 | 1 | 206 | 0.0049 | 27 | c.292 others(44): Show |
VIPR1 | ENSG00000114812.13 | transcript | ENST00000325123.5 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VIPR2_chr7_159023175_159149867 | 159025837 | G | GGAATCAG others(20): Show |
downstream_gene_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 334 | 0.0030 | 27 | c.*47 others(38): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 2337 | chr7 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159135004 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0311 | 1 | 228 | 0.0044 | 27 | c.151 others(44): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 2/12 | chr7 | TogoVar | |||||||
VMAC_chr19_5899872_5915853 | 5907610 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01168.hp2 HG02818.hp1 others(9): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0024others(2): Show | a0001c0001t0001g0007 a0001c0001t0005g0007 a0001c0001t0024g0007 others(2): Show |
12 | 66 | 0.1818 | 27 | c.192 others(44): Show |
VMAC | ENSG00000187650.4 | transcript | ENST00000339485.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
VNN2_chr6_132738870_132762904 | 132758000 | T | TTTCTTCT others(20): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0174 |
2 | 278 | 0.0072 | 27 | c.-14 others(36): Show |
VNN2 | ENSG00000112303.14 | transcript | ENST00000326499.11 | protein_coding | 97 | chr6 | TogoVar | |||||||
VPS11_chr11_119062818_119086972 | 119086678 | A | AAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | NA18943.hp1 NA19082.hp1 |
a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0035 a0002c0007t0002g0070 |
2 | 219 | 0.0091 | 27 | c.*50 others(38): Show |
VPS11 | ENSG00000160695.16 | transcript | ENST00000621676.5 | protein_coding | 4707 | chr11 | TogoVar | |||||||
VPS11_chr11_119062818_119086972 | 119086678 | A | AAAAAAAT others(20): Show |
downstream_gene_variant | MODIFIER | NA18981.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0036 | 1 | 218 | 0.0046 | 27 | c.*50 others(38): Show |
VPS11 | ENSG00000160695.16 | transcript | ENST00000621676.5 | protein_coding | 4707 | chr11 | TogoVar | |||||||
VPS13B_chr8_99008274_99882580 | 99270131 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0014 | a0014c0019 | a0014c0019t0002 | a0014c0019t0002g0055 | 1 | 16 | 0.0625 | 27 | c.251 others(46): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13C_chr15_61847389_62065447 | 62037461 | T | TAATATAA others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(136): Show |
a0001a0002a0003others(13): Show | a0001c0001a0002c0002a0002c0045others(17): Show | a0001c0001t0002a0001c0001t0003a0002c0002t0001others(26): Show | a0001c0001t0002g0318 a0001c0001t0003g0256 a0001c0001t0003g0271 others(133): Show |
139 | 280 | 0.4964 | 27 | c.188 others(44): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 3/84 | chr15 | TogoVar | |||||||
VPS33A_chr12_122224564_122271494 | 122239749 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA19007.hp2 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0305 a0001c0001t0006g0308 |
2 | 48 | 0.0417 | 27 | c.116 others(44): Show |
VPS33A | ENSG00000139719.11 | transcript | ENST00000267199.9 | protein_coding | 9/12 | chr12 | TogoVar | |||||||
VPS54_chr2_63887150_64024428 | 63970238 | T | TATAGATA others(20): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0011 | 1 | 285 | 0.0035 | 27 | c.458 others(44): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 4/22 | chr2 | TogoVar |