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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VOPP1_chr7_55465613_55577502 | 55571415 | ATTAAT | A | intron_variant | MODIFIER | HG00609.hp1 NA18998.hp1 NA19000.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 others(1): Show |
4 | 316 | 0.0127 | -5 | c.54+ others(18): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
VPREB3_chr22_23747743_23759425 | 23754586 | AGTCCT | A | upstream_gene_variant | MODIFIER | HG02895.hp1 HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 3 | 432 | 0.0069 | -5 | c.-22 others(14): Show |
VPREB3 | ENSG00000128218.8 | transcript | ENST00000248948.4 | protein_coding | 162 | chr22 | TogoVar | |||||||
VPREB3_chr22_23747743_23759425 | 23758362 | ATTTTT | A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(55): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0004c0005t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(4): Show |
58 | 188 | 0.3085 | -5 | c.-40 others(16): Show |
VPREB3 | ENSG00000128218.8 | transcript | ENST00000248948.4 | protein_coding | 3938 | chr22 | TogoVar | |||||||
VPS11_chr11_119062818_119086972 | 119064438 | GGAGAC | G | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02976.hp2 HG03139.hp1 others(2): Show |
a0002 | a0002c0008a0002c0011 | a0002c0008t0002a0002c0011t0002 | a0002c0008t0002g0041 a0002c0008t0002g0134 a0002c0011t0002g0040 |
5 | 354 | 0.0141 | -5 | c.-33 others(16): Show |
VPS11 | ENSG00000160695.16 | transcript | ENST00000621676.5 | protein_coding | 3379 | chr11 | TogoVar | |||||||
VPS11_chr11_119062818_119086972 | 119075741 | TAAAAA | T | intron_variant | MODIFIER | HG01099.hp2 HG02257.hp2 HG02486.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0013 a0001c0003t0001g0055 a0001c0003t0001g0057 others(2): Show |
8 | 354 | 0.0226 | -5 | c.123 others(24): Show |
VPS11 | ENSG00000160695.16 | transcript | ENST00000621676.5 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77239507 | TTTTTA | T | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp2 HG01884.hp2 others(2): Show |
a0001 | a0001c0014a0001c0022 | a0001c0014t0024a0001c0014t0032a0001c0022t0022 | a0001c0014t0024g0003 a0001c0014t0024g0004 a0001c0014t0032g0006 others(2): Show |
5 | 346 | 0.0145 | -5 | c.190 others(24): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 19/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77323282 | AAAATT | A | intron_variant | MODIFIER | HG01255.hp2 HG01884.hp1 HG02280.hp1 others(5): Show |
a0001 | a0001c0008a0001c0016a0001c0038 | a0001c0008t0010a0001c0016t0004a0001c0038t0010 | a0001c0008t0010g0191 a0001c0008t0010g0192 a0001c0008t0010g0193 others(5): Show |
8 | 346 | 0.0231 | -5 | c.599 others(20): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 45/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77399201 | AAAAAC | A | intron_variant | MODIFIER | HG01943.hp2 HG02015.hp1 HG02723.hp2 others(6): Show |
a0001 | a0001c0001a0001c0037a0001c0042 | a0001c0001t0013a0001c0001t0025a0001c0001t0030others(3): Show | a0001c0001t0013g0205 a0001c0001t0013g0208 a0001c0001t0013g0210 others(6): Show |
9 | 346 | 0.0260 | -5 | c.919 others(24): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 68/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99017077 | AATCTT | A | intron_variant | MODIFIER | HG02970.hp2 HG03579.hp1 |
a0005 | a0005c0009 | a0005c0009t0004a0005c0009t0006 | a0005c0009t0004g0120 a0005c0009t0006g0119 |
2 | 132 | 0.0152 | -5 | c.147 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 2/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99128386 | CAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00735.hp2 others(15): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0114 others(15): Show |
18 | 19 | 0.9474 | -5 | c.120 others(24): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 8/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99169633 | GTTATT | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(44): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0008others(8): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(12): Show | a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0026 others(44): Show |
47 | 132 | 0.3561 | -5 | c.220 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 15/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99178149 | TTTTTA | T | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02976.hp1 |
a0004a0016 | a0004c0022a0004c0023a0016c0024 | a0004c0022t0004a0004c0023t0005a0016c0024t0005 | a0004c0022t0004g0122 a0004c0023t0005g0106 a0016c0024t0005g0123 |
3 | 132 | 0.0227 | -5 | c.233 others(24): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 16/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99193719 | TTAAAA | T | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02976.hp1 |
a0004a0016 | a0004c0022a0004c0023a0016c0024 | a0004c0022t0004a0004c0023t0005a0016c0024t0005 | a0004c0022t0004g0122 a0004c0023t0005g0106 a0016c0024t0005g0123 |
3 | 132 | 0.0227 | -5 | c.251 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99205892 | ATAGAG | A | intron_variant | MODIFIER | HG02074.hp2 NA18952.hp1 NA18991.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0002t0001a0002c0003t0003 | a0001c0001t0002g0040 a0001c0002t0001g0023 a0001c0002t0001g0025 others(1): Show |
4 | 132 | 0.0303 | -5 | c.251 others(26): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99294541 | AAAAAT | A | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG02895.hp1 others(2): Show |
a0003a0009 | a0003c0005a0009c0015 | a0003c0005t0004a0003c0005t0006a0009c0015t0004 | a0003c0005t0004g0130 a0003c0005t0004g0132 a0003c0005t0006g0129 others(2): Show |
5 | 132 | 0.0379 | -5 | c.282 others(26): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99326452 | CTTTTT | C | intron_variant | MODIFIER | HG02145.hp1 HG02895.hp1 HG02922.hp1 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0004a0003c0005t0006 | a0003c0005t0004g0130 a0003c0005t0004g0132 a0003c0005t0006g0129 others(1): Show |
4 | 37 | 0.1081 | -5 | c.282 others(26): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99360182 | CTTTCT | C | intron_variant | MODIFIER | HG02145.hp2 NA19003.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0003c0004t0001 | a0001c0001t0002g0051 a0003c0004t0001g0112 |
2 | 129 | 0.0155 | -5 | c.282 others(26): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99418530 | CTTTCT | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(45): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0008others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(17): Show | a0001c0001t0001g0107 a0001c0001t0002g0018 a0001c0001t0002g0021 others(45): Show |
48 | 122 | 0.3934 | -5 | c.308 others(26): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 21/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99640049 | GAGAAA | G | intron_variant | MODIFIER | HG02897.hp2 HG02976.hp2 HG03453.hp1 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0001t0002a0001c0016t0004 | a0001c0001t0001g0064 a0001c0001t0002g0069 a0001c0016t0004g0089 |
3 | 72 | 0.0417 | -5 | c.522 others(24): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13C_chr15_61847389_62065447 | 61937467 | GTTTCT | G | intron_variant | MODIFIER | HG02258.hp2 HG02723.hp1 HG02976.hp2 others(2): Show |
a0006a0012 | a0006c0025a0012c0011 | a0006c0025t0005a0012c0011t0014a0012c0011t0028 | a0006c0025t0005g0221 a0012c0011t0014g0188 a0012c0011t0014g0189 others(2): Show |
5 | 350 | 0.0143 | -5 | c.560 others(22): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 47/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 61957070 | GAATAA | G | intron_variant | MODIFIER | HG02523.hp2 NA18941.hp1 NA18944.hp1 others(7): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0006 | a0003c0003t0001g0112 a0003c0003t0001g0116 a0003c0003t0001g0117 others(7): Show |
10 | 350 | 0.0286 | -5 | c.416 others(24): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 37/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 61961549 | GAATAT | G | intron_variant | MODIFIER | HG01070.hp1 HG01175.hp2 HG02004.hp2 others(12): Show |
a0005 | a0005c0005 | a0005c0005t0004a0005c0005t0018 | a0005c0005t0004g0015 a0005c0005t0004g0017 a0005c0005t0004g0018 others(12): Show |
15 | 350 | 0.0429 | -5 | c.390 others(20): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 35/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 62037356 | AAATGT | A | intron_variant | MODIFIER | HG01070.hp1 HG01175.hp2 HG03831.hp2 others(6): Show |
a0005a0039 | a0005c0005a0039c0053 | a0005c0005t0004a0039c0053t0004 | a0005c0005t0004g0020 a0005c0005t0004g0022 a0005c0005t0004g0023 others(6): Show |
9 | 349 | 0.0258 | -5 | c.188 others(22): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 3/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 62058937 | AAAAAC | A | intron_variant | MODIFIER | HG00408.hp1 HG01346.hp2 HG02145.hp2 others(6): Show |
a0004 | a0004c0004a0004c0009 | a0004c0004t0001a0004c0009t0001 | a0004c0004t0001g0191 a0004c0004t0001g0192 a0004c0004t0001g0193 others(6): Show |
9 | 346 | 0.0260 | -5 | c.100 others(22): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 1/84 | chr15 | TogoVar | |||||||
VPS13D_chr1_12225030_12517047 | 12280933 | ATAATT | A | intron_variant | MODIFIER | HG01255.hp2 HG03579.hp1 HG06807.hp1 others(1): Show |
a0001a0014 | a0001c0009a0014c0020 | a0001c0009t0004a0001c0009t0008a0001c0009t0022others(1): Show | a0001c0009t0004g0018 a0001c0009t0008g0017 a0001c0009t0022g0076 others(1): Show |
4 | 152 | 0.0263 | -5 | c.460 others(24): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 20/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12285929 | CTTCCT | C | intron_variant | MODIFIER | HG00438.hp1 HG01099.hp1 HG01433.hp1 others(13): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0009a0002c0004others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0114 others(13): Show |
16 | 103 | 0.1553 | -5 | c.563 others(24): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12285990 | TTCCTC | T | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp2 HG01361.hp1 others(13): Show |
a0001a0005a0006others(2): Show | a0001c0001a0001c0005a0001c0006others(6): Show | a0001c0001t0002a0001c0005t0002a0001c0006t0003others(7): Show | a0001c0001t0002g0140 a0001c0005t0002g0068 a0001c0006t0003g0009 others(13): Show |
16 | 108 | 0.1481 | -5 | c.563 others(24): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS16_chr20_2835745_2871732 | 2842751 | TGTATC | T | intron_variant | MODIFIER | HG02280.hp2 HG02622.hp2 HG02895.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0050 a0001c0004t0001g0014 a0001c0004t0001g0194 |
5 | 406 | 0.0123 | -5 | c.53+ others(20): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
VPS16_chr20_2835745_2871732 | 2850326 | AAAAAC | A | intron_variant | MODIFIER | HG00735.hp1 HG02055.hp2 HG02293.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0036 a0001c0001t0001g0188 others(5): Show |
11 | 406 | 0.0271 | -5 | c.54- others(20): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69125275 | TCAAAA | T | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0018a0001c0002t0026 | a0001c0002t0008g0026 a0001c0002t0008g0027 a0001c0002t0008g0028 others(10): Show |
13 | 333 | 0.0390 | -5 | c.3+1 others(18): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69125564 | AAACTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(22): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0014 | a0001c0002t0006g0004 a0001c0002t0006g0023 a0001c0002t0006g0276 others(18): Show |
25 | 334 | 0.0749 | -5 | c.3+1 others(18): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69126565 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(169): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 others(144): Show |
172 | 194 | 0.8866 | -5 | c.3+2 others(18): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69128996 | CAAAAA | C | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0018a0001c0002t0026 | a0001c0002t0008g0026 a0001c0002t0008g0027 a0001c0002t0008g0028 others(10): Show |
13 | 28 | 0.4643 | -5 | c.4-3 others(18): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS26B_chr11_134219671_134252788 | 134221349 | ATTCTT | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG01934.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0006 | a0001c0001t0001g0164 a0001c0001t0001g0177 a0001c0002t0006g0030 |
5 | 428 | 0.0117 | -5 | c.-37 others(16): Show |
VPS26B | ENSG00000151502.11 | transcript | ENST00000281187.10 | protein_coding | 3321 | chr11 | TogoVar | |||||||
VPS26B_chr11_134219671_134252788 | 134232197 | GAATGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(207): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(90): Show |
210 | 428 | 0.4907 | -5 | c.224 others(22): Show |
VPS26B | ENSG00000151502.11 | transcript | ENST00000281187.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
VPS26C_chr21_37218422_37272334 | 37235872 | TATATA | T | intron_variant | MODIFIER | HG03195.hp1 HG04228.hp2 NA18946.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0192 a0001c0001t0001g0254 a0001c0001t0001g0286 others(2): Show |
5 | 338 | 0.0148 | -5 | c.352 others(22): Show |
VPS26C | ENSG00000157538.14 | transcript | ENST00000309117.11 | protein_coding | 3/7 | chr21 | TogoVar | |||||||
VPS26C_chr21_37218422_37272334 | 37254815 | TAAATA | T | intron_variant | MODIFIER | HG00544.hp1 HG00741.hp1 HG01069.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0158 others(38): Show |
46 | 394 | 0.1168 | -5 | c.57+ others(22): Show |
VPS26C | ENSG00000157538.14 | transcript | ENST00000309117.11 | protein_coding | 1/7 | chr21 | TogoVar | |||||||
VPS26C_chr21_37218422_37272334 | 37262073 | GAACAT | G | intron_variant | MODIFIER | HG03098.hp1 HG03516.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0291 a0001c0001t0007g0289 a0001c0001t0007g0290 |
3 | 394 | 0.0076 | -5 | c.57+ others(20): Show |
VPS26C | ENSG00000157538.14 | transcript | ENST00000309117.11 | protein_coding | 1/7 | chr21 | TogoVar | |||||||
VPS33A_chr12_122224564_122271494 | 122268387 | TTTTTA | T | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01106.hp1 HG01123.hp2 others(31): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(27): Show |
34 | 344 | 0.0988 | -5 | c.-19 others(16): Show |
VPS33A | ENSG00000139719.11 | transcript | ENST00000267199.9 | protein_coding | 1894 | chr12 | TogoVar | |||||||
VPS33B_chr15_90993673_91027594 | 91011990 | AAAAAC | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(94): Show |
a0001a0004a0006 | a0001c0001a0001c0010a0001c0017others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(65): Show |
97 | 335 | 0.2896 | -5 | c.357 others(22): Show |
VPS33B | ENSG00000184056.15 | transcript | ENST00000333371.8 | protein_coding | 5/22 | chr15 | TogoVar | |||||||
VPS33B_chr15_90993673_91027594 | 91016375 | CTTTTT | C | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02723.hp2 others(5): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0042 a0001c0005t0001g0043 a0001c0005t0001g0214 others(3): Show |
8 | 313 | 0.0256 | -5 | c.239 others(20): Show |
VPS33B | ENSG00000184056.15 | transcript | ENST00000333371.8 | protein_coding | 3/22 | chr15 | TogoVar | |||||||
VPS33B_chr15_90993673_91027594 | 91017368 | ATATAT | A | intron_variant | MODIFIER | HG01243.hp1 HG02622.hp2 HG03139.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0137 a0001c0003t0001g0058 a0001c0003t0001g0073 |
3 | 318 | 0.0094 | -5 | c.178 others(20): Show |
VPS33B | ENSG00000184056.15 | transcript | ENST00000333371.8 | protein_coding | 2/22 | chr15 | TogoVar | |||||||
VPS33B_chr15_90993673_91027594 | 91019114 | GTTTTT | G | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp2 HG02572.hp2 others(7): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0005 a0001c0004t0001g0041 a0001c0004t0001g0204 others(2): Show |
10 | 68 | 0.1471 | -5 | c.97- others(20): Show |
VPS33B | ENSG00000184056.15 | transcript | ENST00000333371.8 | protein_coding | 1/22 | chr15 | TogoVar | |||||||
VPS33B_chr15_90993673_91027594 | 91022836 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01496.hp1 HG02886.hp2 others(5): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0045 a0001c0006t0001g0054 a0001c0006t0001g0231 others(4): Show |
8 | 60 | 0.1333 | -5 | c.-59 others(14): Show |
VPS33B | ENSG00000184056.15 | transcript | ENST00000333371.8 | protein_coding | 243 | chr15 | TogoVar | |||||||
VPS33B_chr15_90993673_91027594 | 91025994 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001a0001c0008a0001c0012 | a0001c0001t0001a0001c0001t0005a0001c0008t0001others(1): Show | a0001c0001t0001g0052 a0001c0001t0005g0244 a0001c0008t0001g0223 others(3): Show |
6 | 183 | 0.0328 | -5 | c.-37 others(16): Show |
VPS33B | ENSG00000184056.15 | transcript | ENST00000333371.8 | protein_coding | 3401 | chr15 | TogoVar | |||||||
VPS35L_chr16_19550703_19706163 | 19576176 | AAAAAC | A | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG01891.hp2 others(7): Show |
a0001 | a0001c0002a0001c0004a0001c0011others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(2): Show | a0001c0002t0001g0009 a0001c0002t0002g0010 a0001c0004t0001g0277 others(7): Show |
10 | 281 | 0.0356 | -5 | c.433 others(22): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 5/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19576181 | CAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG00621.hp2 others(43): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0026 others(43): Show |
46 | 282 | 0.1631 | -5 | c.433 others(22): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 5/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19590139 | GCCCCC | G | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG01074.hp1 others(27): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0043 others(27): Show |
30 | 92 | 0.3261 | -5 | c.640 others(22): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19618084 | CAAAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG01891.hp2 others(8): Show |
a0001 | a0001c0004a0001c0006a0001c0012 | a0001c0004t0001a0001c0006t0001a0001c0012t0002 | a0001c0004t0001g0277 a0001c0004t0001g0278 a0001c0004t0001g0279 others(8): Show |
11 | 27 | 0.4074 | -5 | c.122 others(24): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 14/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19639343 | AGCTCT | A | intron_variant | MODIFIER | HG00544.hp2 NA18612.hp1 NA19056.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0214 a0001c0002t0001g0230 a0001c0002t0001g0231 others(1): Show |
4 | 282 | 0.0142 | -5 | c.169 others(22): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 20/30 | chr16 | TogoVar |