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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VPS13A_chr9_77172534_77426537 | 77414739 | TTAATAA | T | intron_variant | MODIFIER | HG01943.hp2 HG02015.hp1 HG02155.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0028others(2): Show | a0001c0001t0013a0001c0001t0025a0001c0001t0030others(5): Show | a0001c0001t0013g0205 a0001c0001t0013g0208 a0001c0001t0013g0210 others(8): Show |
11 | 82 | 0.1341 | -6 | c.947 others(25): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 71/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99022437 | CTTTCTG | C | intron_variant | MODIFIER | HG01106.hp1 HG01981.hp2 HG03834.hp2 others(2): Show |
a0001a0003a0021 | a0001c0001a0003c0006a0021c0026 | a0001c0001t0001a0003c0006t0004a0021c0026t0003 | a0001c0001t0001g0107 a0003c0006t0004g0109 a0003c0006t0004g0127 others(2): Show |
5 | 132 | 0.0379 | -6 | c.147 others(23): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 2/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99044853 | TACACAC | T | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00741.hp2 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0064 a0001c0001t0002g0075 a0001c0001t0002g0076 others(12): Show |
15 | 26 | 0.5769 | -6 | c.291 others(23): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 3/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99069015 | TTAAAAG | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(67): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0010others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0073 others(67): Show |
70 | 132 | 0.5303 | -6 | c.292 others(25): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 3/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99128386 | CAAAAAA | C | intron_variant | MODIFIER | HG00738.hp1 HG02897.hp2 HG03139.hp1 others(6): Show |
a0001a0002a0017 | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0002a0001c0002t0001a0001c0010t0005others(4): Show | a0001c0001t0002g0070 a0001c0002t0001g0068 a0001c0010t0005g0048 others(6): Show |
9 | 10 | 0.9000 | -6 | c.120 others(25): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 8/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99140573 | TTGCTGC | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(43): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0008others(8): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(12): Show | a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0026 others(43): Show |
46 | 132 | 0.3485 | -6 | c.165 others(25): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 12/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99262769 | CTGTTGT | C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02976.hp1 |
a0004a0016 | a0004c0022a0004c0023a0016c0024 | a0004c0022t0004a0004c0023t0005a0016c0024t0005 | a0004c0022t0004g0122 a0004c0023t0005g0106 a0016c0024t0005g0123 |
3 | 104 | 0.0288 | -6 | c.251 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99271195 | AACTACT | A | intron_variant | MODIFIER | HG00738.hp2 HG01261.hp1 HG01891.hp2 others(1): Show |
a0001a0012 | a0001c0001a0001c0002a0001c0035others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0035t0002others(1): Show | a0001c0001t0002g0069 a0001c0002t0001g0008 a0001c0035t0002g0104 others(1): Show |
4 | 62 | 0.0645 | -6 | c.251 others(25): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99346737 | TGGTAGG | T | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02965.hp2 others(4): Show |
a0003a0011 | a0003c0004a0003c0007a0011c0034 | a0003c0004t0001a0003c0007t0005a0011c0034t0001 | a0003c0004t0001g0065 a0003c0004t0001g0066 a0003c0004t0001g0090 others(4): Show |
7 | 132 | 0.0530 | -6 | c.282 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99358002 | TCACACA | T | intron_variant | MODIFIER | HG01243.hp1 HG02895.hp2 HG02897.hp1 |
a0003a0010a0015 | a0003c0033a0010c0025a0015c0032 | a0003c0033t0006a0010c0025t0010a0015c0032t0006 | a0003c0033t0006g0134 a0010c0025t0010g0108 a0015c0032t0006g0133 |
3 | 53 | 0.0566 | -6 | c.282 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99360182 | CTTTCTT | C | intron_variant | MODIFIER | HG02040.hp2 HG02074.hp2 HG03453.hp2 |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0002a0002c0003t0003a0003c0004t0001 | a0001c0001t0002g0040 a0002c0003t0003g0080 a0003c0004t0001g0090 |
3 | 130 | 0.0231 | -6 | c.282 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99360184 | TTCTTTC | T | intron_variant | MODIFIER | HG00735.hp2 HG01934.hp2 HG02300.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0117 a0001c0002t0001g0005 a0001c0002t0001g0006 |
3 | 130 | 0.0231 | -6 | c.282 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99360210 | CTTTCTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02976.hp1 NA20129.hp1 |
a0003a0012a0016 | a0003c0004a0012c0028a0016c0024 | a0003c0004t0001a0012c0028t0002a0016c0024t0005 | a0003c0004t0001g0065 a0012c0028t0002g0078 a0016c0024t0005g0123 |
3 | 122 | 0.0246 | -6 | c.282 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99360222 | CTTTCTT | C | intron_variant | MODIFIER | HG00323.hp1 HG02145.hp2 HG02300.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0002a0001c0002t0001a0003c0004t0001others(1): Show | a0001c0001t0002g0044 a0001c0002t0001g0047 a0003c0004t0001g0112 others(1): Show |
4 | 132 | 0.0303 | -6 | c.282 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99360242 | CCTTCCT | C | intron_variant | MODIFIER | HG01261.hp1 HG01496.hp1 HG01978.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0035a0002c0003 | a0001c0001t0001a0001c0035t0002a0002c0003t0003 | a0001c0001t0001g0061 a0001c0035t0002g0104 a0002c0003t0003g0057 others(2): Show |
5 | 89 | 0.0562 | -6 | c.282 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | chr8 | TogoVar | |||||||
VPS13B_chr8_99008274_99882580 | 99373379 | CTATAAT | C | intron_variant | MODIFIER | HG00408.hp1 HG01243.hp2 HG02897.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0016others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0016t0004others(1): Show | a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0001g0074 others(6): Show |
9 | 132 | 0.0682 | -6 | c.282 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99493802 | GAAAAGA | G | intron_variant | MODIFIER | HG01081.hp1 HG01099.hp1 HG01243.hp1 others(3): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0009others(3): Show | a0001c0001t0002g0018 a0001c0001t0004g0118 a0001c0002t0009g0015 others(3): Show |
6 | 132 | 0.0455 | -6 | c.387 others(25): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 25/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99540013 | TTATATA | T | intron_variant | MODIFIER | HG00408.hp1 HG02965.hp1 HG03834.hp2 |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0006 | a0001c0002t0001a0002c0003t0008a0003c0006t0004 | a0001c0002t0001g0077 a0002c0003t0008g0071 a0003c0006t0004g0128 |
3 | 123 | 0.0244 | -6 | c.474 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 30/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99580984 | AACACAC | A | intron_variant | MODIFIER | HG01106.hp1 HG01981.hp2 HG03139.hp2 others(4): Show |
a0001a0003a0017others(1): Show | a0001c0001a0003c0006a0017c0031others(1): Show | a0001c0001t0001a0001c0001t0002a0003c0006t0004others(2): Show | a0001c0001t0001g0107 a0001c0001t0002g0043 a0003c0006t0004g0109 others(4): Show |
7 | 24 | 0.2917 | -6 | c.522 others(25): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99619886 | GATAATA | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(52): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0008others(14): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(18): Show | a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0027 others(52): Show |
55 | 129 | 0.4264 | -6 | c.522 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99639985 | GTAATAA | G | intron_variant | MODIFIER | HG02074.hp1 NA18992.hp2 NA19063.hp2 |
a0001a0020 | a0001c0001a0001c0002a0020c0030 | a0001c0001t0002a0001c0002t0001a0020c0030t0001 | a0001c0001t0002g0043 a0001c0002t0001g0079 a0020c0030t0001g0105 |
3 | 74 | 0.0405 | -6 | c.522 others(25): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99640050 | AGAAAAG | A | intron_variant | MODIFIER | HG00408.hp2 HG02145.hp2 HG02451.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0002c0003others(3): Show | a0001c0001t0002a0001c0008t0005a0002c0003t0003others(3): Show | a0001c0001t0002g0033 a0001c0008t0005g0125 a0002c0003t0003g0024 others(3): Show |
6 | 121 | 0.0496 | -6 | c.522 others(25): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | chr8 | TogoVar | |||||||
VPS13B_chr8_99008274_99882580 | 99649625 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(41): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0008others(8): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(11): Show | a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0027 others(41): Show |
44 | 106 | 0.4151 | -6 | c.590 others(25): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 34/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99797230 | CTTTATT | C | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02965.hp2 others(4): Show |
a0003a0011 | a0003c0004a0003c0007a0011c0034 | a0003c0004t0001a0003c0007t0005a0011c0034t0001 | a0003c0004t0001g0065 a0003c0004t0001g0066 a0003c0004t0001g0090 others(4): Show |
7 | 132 | 0.0530 | -6 | c.794 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 43/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99821103 | AACACAC | A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(24): Show |
a0001a0004a0007others(5): Show | a0001c0001a0001c0002a0001c0008others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(11): Show | a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0084 others(24): Show |
27 | 41 | 0.6585 | -6 | c.899 others(23): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 49/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13C_chr15_61847389_62065447 | 61913626 | AGTTCTG | A | intron_variant | MODIFIER | HG00597.hp2 HG01081.hp2 HG01109.hp1 others(73): Show |
a0003a0004a0008others(4): Show | a0003c0003a0003c0013a0003c0023others(6): Show | a0003c0003t0001a0003c0003t0006a0003c0013t0001others(8): Show | a0003c0003t0001g0001 a0003c0003t0001g0028 a0003c0003t0001g0109 others(71): Show |
76 | 350 | 0.2171 | -6 | c.844 others(23): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 61/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 61937786 | TAATACC | T | intron_variant | MODIFIER | NA18952.hp2 NA18979.hp2 NA18984.hp2 others(1): Show |
a0003a0033 | a0003c0003a0033c0024 | a0003c0003t0001a0033c0024t0001 | a0003c0003t0001g0127 a0003c0003t0001g0137 a0003c0003t0001g0139 others(1): Show |
4 | 350 | 0.0114 | -6 | c.560 others(25): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 47/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 61961394 | AACACAC | A | intron_variant | MODIFIER | HG00323.hp2 HG02004.hp1 HG02015.hp1 others(5): Show |
a0002a0004a0034 | a0002c0002a0004c0004a0034c0044 | a0002c0002t0001a0004c0004t0001a0004c0004t0026others(1): Show | a0002c0002t0001g0012 a0002c0002t0001g0054 a0004c0004t0001g0031 others(5): Show |
8 | 105 | 0.0762 | -6 | c.390 others(23): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 35/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 62012221 | GACACAC | G | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00597.hp2 others(106): Show |
a0002a0003a0007others(8): Show | a0002c0002a0003c0003a0003c0013others(10): Show | a0002c0002t0001a0002c0002t0012a0003c0003t0001others(14): Show | a0002c0002t0001g0012 a0002c0002t0001g0048 a0002c0002t0001g0050 others(104): Show |
109 | 235 | 0.4638 | -6 | c.826 others(19): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 11/84 | chr15 | TogoVar | |||||||
VPS13D_chr1_12225030_12517047 | 12272449 | AATTAGT | A | intron_variant | MODIFIER | HG00408.hp1 HG01256.hp2 HG02004.hp1 others(2): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0006a0001c0001t0010a0001c0001t0012others(1): Show | a0001c0001t0006g0130 a0001c0001t0010g0120 a0001c0001t0012g0119 others(2): Show |
5 | 152 | 0.0329 | -6 | c.210 others(23): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 17/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12352965 | CAAAAAA | C | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp1 HG01361.hp1 others(8): Show |
a0001a0006 | a0001c0006a0001c0008a0006c0025 | a0001c0006t0003a0001c0006t0010a0001c0008t0003others(1): Show | a0001c0006t0003g0004 a0001c0006t0003g0009 a0001c0006t0003g0013 others(8): Show |
11 | 29 | 0.3793 | -6 | c.943 others(23): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12385563 | AATCAGC | A | intron_variant | MODIFIER | HG02976.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0108 a0001c0001t0011g0107 |
2 | 152 | 0.0132 | -6 | c.114 others(25): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 59/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12400960 | GCGCACA | G | intron_variant | MODIFIER | HG02273.hp2 HG02717.hp2 HG03098.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0020a0002c0004t0001 | a0001c0001t0001g0112 a0001c0001t0020g0078 a0002c0004t0001g0103 |
3 | 87 | 0.0345 | -6 | c.117 others(25): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12427240 | ATTTTAT | A | intron_variant | MODIFIER | HG01256.hp1 HG01346.hp1 HG02273.hp1 others(15): Show |
a0001a0003a0011 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0004a0001c0003t0001a0001c0003t0002others(8): Show | a0001c0001t0004g0082 a0001c0003t0001g0058 a0001c0003t0002g0055 others(15): Show |
18 | 139 | 0.1295 | -6 | c.123 others(29): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12496856 | GCCAGGT | G | intron_variant | MODIFIER | HG02970.hp1 NA19240.hp2 |
a0001a0018 | a0001c0001a0018c0015 | a0001c0001t0016a0018c0015t0024 | a0001c0001t0016g0032 a0018c0015t0024g0001 |
2 | 149 | 0.0134 | -6 | c.126 others(25): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS16_chr20_2835745_2871732 | 2856980 | CTTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(269): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(14): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 others(224): Show |
272 | 405 | 0.6716 | -6 | c.54- others(21): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69149728 | TTTTTTG | T | intron_variant | MODIFIER | HG00639.hp2 HG01891.hp1 HG02080.hp1 others(10): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0006a0001c0003t0007a0001c0003t0023others(1): Show | a0001c0002t0006g0281 a0001c0002t0006g0284 a0001c0002t0006g0287 others(8): Show |
13 | 334 | 0.0389 | -6 | c.154 others(23): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69160127 | TACACAC | T | intron_variant | MODIFIER | HG03098.hp2 HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0006 | a0001c0001t0002g0066 a0001c0002t0006g0277 a0001c0002t0006g0278 |
3 | 53 | 0.0566 | -6 | c.551 others(23): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69167426 | AAAAAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(142): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 others(122): Show |
145 | 334 | 0.4341 | -6 | c.728 others(23): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69167444 | GAAAAAA | G | 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 | -6 | c.728 others(23): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69176022 | ATAACCT | A | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0018a0001c0002t0026 | a0001c0002t0008g0026 a0001c0002t0008g0027 a0001c0002t0008g0028 others(10): Show |
13 | 334 | 0.0389 | -6 | c.*47 others(17): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 1611 | chr10 | TogoVar | |||||||
VPS26A_chr10_69119178_69179412 | 69176436 | AAAAAAC | A | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01891.hp1 HG02055.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0013a0001c0003t0007others(2): Show | a0001c0001t0001g0201 a0001c0001t0013g0274 a0001c0003t0007g0003 others(9): Show |
14 | 334 | 0.0419 | -6 | c.*51 others(17): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 2025 | chr10 | TogoVar | |||||||
VPS26C_chr21_37218422_37272334 | 37235851 | GTATATA | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(119): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0014 others(94): Show |
122 | 359 | 0.3398 | -6 | c.352 others(23): Show |
VPS26C | ENSG00000157538.14 | transcript | ENST00000309117.11 | protein_coding | 3/7 | chr21 | TogoVar | |||||||
VPS33A_chr12_122224564_122271494 | 122238770 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(91): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(4): Show | a0001c0001t0001g0137 a0001c0001t0002g0002 a0001c0001t0002g0003 others(81): Show |
94 | 204 | 0.4608 | -6 | c.116 others(21): Show |
VPS33A | ENSG00000139719.11 | transcript | ENST00000267199.9 | protein_coding | 9/12 | chr12 | TogoVar | |||||||
VPS33A_chr12_122224564_122271494 | 122252258 | TTTTTTA | T | intron_variant | MODIFIER | HG00621.hp2 NA18941.hp1 NA18955.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0303 a0001c0001t0006g0304 a0001c0001t0006g0305 others(5): Show |
8 | 344 | 0.0233 | -6 | c.484 others(23): Show |
VPS33A | ENSG00000139719.11 | transcript | ENST00000267199.9 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
VPS33B_chr15_90993673_91027594 | 91012019 | ACAAGAC | A | intron_variant | MODIFIER | HG02647.hp2 HG03041.hp1 NA19030.hp2 |
a0001a0005 | a0001c0001a0005c0016 | a0001c0001t0004a0005c0016t0004 | a0001c0001t0004g0050 a0001c0001t0004g0051 a0005c0016t0004g0049 |
3 | 372 | 0.0081 | -6 | c.357 others(23): Show |
VPS33B | ENSG00000184056.15 | transcript | ENST00000333371.8 | protein_coding | 5/22 | chr15 | TogoVar | |||||||
VPS33B_chr15_90993673_91027594 | 91017367 | AATATAT | A | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01109.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0138 a0001c0003t0001g0072 a0001c0003t0001g0074 others(4): Show |
10 | 137 | 0.0730 | -6 | c.178 others(21): Show |
VPS33B | ENSG00000184056.15 | transcript | ENST00000333371.8 | protein_coding | 2/22 | chr15 | TogoVar | |||||||
VPS35L_chr16_19550703_19706163 | 19570834 | CATATAT | C | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG03017.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0016 | a0001c0001t0001a0001c0002t0001a0001c0016t0001 | a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0002t0001g0116 others(3): Show |
6 | 24 | 0.2500 | -6 | c.285 others(23): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19590134 | GCCCCGC | G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00609.hp1 others(25): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0045 a0001c0001t0001g0074 a0001c0001t0001g0081 others(25): Show |
28 | 262 | 0.1069 | -6 | c.640 others(23): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19590139 | GCCCCCC | G | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00733.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0197 a0001c0001t0001g0206 a0001c0001t0001g0207 others(40): Show |
43 | 105 | 0.4095 | -6 | c.640 others(23): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |