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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VPS13B_chr8_99008274_99882580 | 99448121 | T | TTTTA | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00597.hp2 others(31): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0020others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0084 others(31): Show |
34 | 82 | 0.4146 | 4 | c.344 others(23): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 23/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99501896 | G | GTCCC | intron_variant | MODIFIER | HG00408.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0018a0003c0004others(3): Show | a0001c0002t0001a0002c0018t0003a0003c0004t0001others(4): Show | a0001c0002t0001g0077 a0002c0018t0003g0095 a0003c0004t0001g0066 others(9): Show |
12 | 80 | 0.1500 | 4 | c.404 others(19): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 26/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99501947 | T | TTCTG | intron_variant | MODIFIER | HG01106.hp1 HG01884.hp1 HG01891.hp1 others(5): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0006a0004c0022others(3): Show | a0001c0001t0001a0003c0006t0004a0004c0022t0004others(3): Show | a0001c0001t0001g0107 a0003c0006t0004g0109 a0003c0006t0004g0127 others(5): Show |
8 | 129 | 0.0620 | 4 | c.404 others(21): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 26/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99520389 | T | TTGTG | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG02300.hp2 others(2): Show |
a0001 | a0001c0001a0001c0020a0001c0021 | a0001c0001t0002a0001c0020t0002a0001c0021t0001 | a0001c0001t0002g0044 a0001c0001t0002g0076 a0001c0001t0002g0093 others(2): Show |
5 | 74 | 0.0676 | 4 | c.463 others(21): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 29/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99579696 | C | CCTTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(52): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0008others(11): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(16): Show | a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0026 others(52): Show |
55 | 132 | 0.4167 | 4 | c.522 others(23): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99580984 | A | AACAC | intron_variant | MODIFIER | HG00609.hp1 HG01081.hp1 HG01081.hp2 others(21): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(13): Show | a0001c0001t0001g0061 a0001c0001t0002g0018 a0001c0001t0002g0040 others(21): Show |
24 | 41 | 0.5854 | 4 | c.522 others(23): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99614252 | T | TACAC | intron_variant | MODIFIER | HG00597.hp1 HG02451.hp1 NA18950.hp1 others(2): Show |
a0001a0019 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0008t0005others(1): Show | a0001c0001t0002g0041 a0001c0002t0001g0009 a0001c0002t0001g0013 others(2): Show |
5 | 83 | 0.0602 | 4 | 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 | 99623994 | C | CATAT | intron_variant | MODIFIER | HG02897.hp2 HG03453.hp1 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0016t0004 | a0001c0001t0001g0064 a0001c0016t0004g0089 |
2 | 49 | 0.0408 | 4 | 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 | 99633806 | G | GGTGT | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG01891.hp2 others(4): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0003a0004c0022others(2): Show | a0001c0001t0001a0002c0003t0008a0004c0022t0004others(2): Show | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0114 others(4): Show |
7 | 8 | 0.8750 | 4 | c.522 others(23): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99640049 | G | GAAGA | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG03834.hp2 |
a0003a0004 | a0003c0005a0003c0006a0004c0022 | a0003c0005t0006a0003c0006t0004a0004c0022t0004 | a0003c0005t0006g0131 a0003c0006t0004g0128 a0004c0022t0004g0122 |
3 | 72 | 0.0417 | 4 | c.522 others(23): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99691247 | C | CTGTG | intron_variant | MODIFIER | HG02145.hp1 HG02895.hp1 HG02922.hp1 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0004a0003c0005t0006 | a0003c0005t0004g0130 a0003c0005t0004g0132 a0003c0005t0006g0129 others(1): Show |
4 | 88 | 0.0455 | 4 | c.604 others(23): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 35/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99708829 | G | GTCTC | intron_variant | MODIFIER | HG00741.hp1 HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0002a0001c0020 | a0001c0002t0002a0001c0002t0009a0001c0020t0002 | a0001c0002t0002g0046 a0001c0002t0009g0045 a0001c0020t0002g0082 |
3 | 122 | 0.0246 | 4 | c.645 others(23): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 36/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99737106 | C | CTTTT | intron_variant | MODIFIER | HG00738.hp2 HG01515.hp1 HG03130.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(1): Show | a0001c0001t0001g0116 a0001c0002t0001g0008 a0001c0002t0009g0045 others(1): Show |
4 | 20 | 0.2000 | 4 | c.705 others(25): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 39/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99767493 | C | CAAAA | intron_variant | MODIFIER | HG00423.hp1 HG01109.hp2 HG02080.hp1 others(2): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0004 | a0001c0002t0001g0031 a0001c0002t0001g0035 a0001c0002t0001g0039 others(2): Show |
5 | 55 | 0.0909 | 4 | c.724 others(21): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99778231 | C | CAAAA | intron_variant | MODIFIER | HG01106.hp1 HG01884.hp1 HG01981.hp2 others(2): Show |
a0003a0004a0021 | a0003c0006a0004c0023a0021c0026 | a0003c0006t0004a0004c0023t0005a0021c0026t0003 | a0003c0006t0004g0109 a0003c0006t0004g0127 a0003c0006t0004g0128 others(2): Show |
5 | 122 | 0.0410 | 4 | c.743 others(21): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 41/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99792442 | T | TAATC | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(62): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0008others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0061 a0001c0001t0002g0021 a0001c0001t0002g0032 others(62): Show |
65 | 132 | 0.4924 | 4 | c.794 others(23): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 43/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99793254 | C | CATAT | intron_variant | MODIFIER | HG00597.hp2 HG01099.hp1 HG02074.hp1 others(7): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0016others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0064 a0001c0001t0002g0062 a0001c0002t0001g0009 others(7): Show |
10 | 61 | 0.1639 | 4 | c.794 others(23): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 43/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99807677 | T | TTGTG | intron_variant | MODIFIER | HG00408.hp2 HG01106.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0003 | a0001c0002t0001g0030 a0002c0003t0003g0024 |
2 | 111 | 0.0180 | 4 | c.794 others(23): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 43/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99815657 | A | ATGTG | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG01243.hp1 others(24): Show |
a0001a0002a0003others(6): Show | a0001c0016a0002c0003a0002c0018others(9): Show | a0001c0016t0004a0002c0003t0003a0002c0003t0007others(13): Show | a0001c0016t0004g0089 a0002c0003t0003g0058 a0002c0003t0003g0059 others(24): Show |
27 | 132 | 0.2045 | 4 | c.809 others(23): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 44/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99821103 | A | AACAC | intron_variant | MODIFIER | HG00140.hp1 HG01109.hp1 HG02895.hp2 others(4): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0003c0033others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0003others(4): Show | a0001c0001t0001g0074 a0001c0001t0002g0033 a0002c0003t0003g0036 others(4): Show |
7 | 21 | 0.3333 | 4 | c.899 others(21): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 49/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99832341 | A | ATTTT | splice_acceptor_variant others(1): Show |
HIGH | HG00597.hp2 HG00609.hp1 HG00642.hp2 others(14): Show |
a0001a0008 | a0001c0002a0001c0016a0008c0012 | a0001c0002t0001a0001c0002t0002a0001c0016t0004others(1): Show | a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 others(14): Show |
17 | 67 | 0.2537 | 4 | c.933 others(17): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 51/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99850282 | T | TATAC | intron_variant | MODIFIER | HG01109.hp1 HG02080.hp1 HG02145.hp1 others(7): Show |
a0001a0002a0003others(4): Show | a0001c0002a0002c0003a0003c0005others(5): Show | a0001c0002t0001a0002c0003t0003a0003c0005t0006others(5): Show | a0001c0002t0001g0029 a0001c0002t0001g0042 a0002c0003t0003g0036 others(7): Show |
10 | 130 | 0.0769 | 4 | c.100 others(25): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99850287 | A | ATACC | intron_variant | MODIFIER | HG00738.hp1 HG01884.hp1 HG01891.hp1 others(5): Show |
a0001a0003a0004others(1): Show | a0001c0008a0001c0010a0003c0007others(3): Show | a0001c0008t0005a0001c0010t0005a0003c0007t0005others(3): Show | a0001c0008t0005g0124 a0001c0008t0005g0125 a0001c0010t0005g0048 others(5): Show |
8 | 132 | 0.0606 | 4 | c.100 others(25): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99850312 | T | TATAC | intron_variant | MODIFIER | HG01256.hp1 HG01256.hp2 HG02897.hp2 others(3): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0016others(3): Show | a0001c0001t0002a0001c0002t0001a0001c0016t0004others(3): Show | a0001c0001t0002g0052 a0001c0002t0001g0016 a0001c0016t0004g0089 others(3): Show |
6 | 122 | 0.0492 | 4 | c.100 others(25): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99875697 | G | GTGAT | 3_prime_UTR_variant | MODIFIER | HG00738.hp1 HG01884.hp1 HG02451.hp1 others(4): Show |
a0001a0003a0004others(1): Show | a0001c0008a0001c0010a0003c0007others(2): Show | a0001c0008t0005a0001c0010t0005a0003c0007t0005others(2): Show | a0001c0008t0005g0124 a0001c0008t0005g0125 a0001c0010t0005g0048 others(4): Show |
7 | 132 | 0.0530 | 4 | c.*33 others(11): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 62/62 | 37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS13B_chr8_99008274_99882580 | 99876877 | G | GTCTC | 3_prime_UTR_variant | MODIFIER | HG00738.hp1 HG01884.hp1 HG02451.hp1 others(4): Show |
a0001a0003a0004others(1): Show | a0001c0008a0001c0010a0003c0007others(2): Show | a0001c0008t0005a0001c0010t0005a0003c0007t0005others(2): Show | a0001c0008t0005g0124 a0001c0008t0005g0125 a0001c0010t0005g0048 others(4): Show |
7 | 132 | 0.0530 | 4 | c.*12 others(15): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 62/62 | 1216 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS13C_chr15_61847389_62065447 | 61858317 | A | ACTAT | intron_variant | MODIFIER | HG01070.hp1 HG01167.hp1 HG01433.hp1 others(10): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0032a0004c0004others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(4): Show | a0001c0001t0002g0247 a0001c0001t0003g0254 a0001c0001t0003g0299 others(10): Show |
13 | 117 | 0.1111 | 4 | c.109 others(25): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 82/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 61923861 | C | CTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(94): Show |
a0001a0002a0006others(11): Show | a0001c0001a0001c0032a0002c0047others(14): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(19): Show | a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 others(94): Show |
97 | 196 | 0.4949 | 4 | c.661 others(23): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 53/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 61950891 | A | AATAT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(242): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0032a0002c0002others(33): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(45): Show | a0001c0001t0002g0003 a0001c0001t0002g0234 a0001c0001t0002g0237 others(239): Show |
245 | 350 | 0.7000 | 4 | c.453 others(19): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 40/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 61961394 | A | AACAC | intron_variant | MODIFIER | HG01167.hp1 HG02886.hp2 HG03540.hp2 others(11): Show |
a0001a0006a0038 | a0001c0001a0006c0006a0006c0017others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0020others(4): Show | a0001c0001t0002g0253 a0001c0001t0002g0291 a0001c0001t0003g0233 others(11): Show |
14 | 111 | 0.1261 | 4 | c.390 others(21): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 35/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 61996894 | C | CATAT | intron_variant | MODIFIER | HG01167.hp1 HG02027.hp1 HG02647.hp2 others(14): Show |
a0001a0006a0024others(3): Show | a0001c0001a0006c0006a0006c0017others(6): Show | a0001c0001t0003a0006c0006t0005a0006c0006t0017others(7): Show | a0001c0001t0003g0210 a0006c0006t0005g0209 a0006c0006t0005g0211 others(14): Show |
17 | 344 | 0.0494 | 4 | c.135 others(23): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 16/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 61996998 | C | CATAT | intron_variant | MODIFIER | NA18747.hp1 NA18952.hp1 NA18968.hp2 others(5): Show |
a0001a0005a0039 | a0001c0001a0005c0005a0039c0053 | a0001c0001t0002a0005c0005t0004a0039c0053t0004 | a0001c0001t0002g0252 a0005c0005t0004g0200 a0005c0005t0004g0201 others(5): Show |
8 | 272 | 0.0294 | 4 | c.135 others(23): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 16/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 62012221 | G | GACAC | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG01256.hp2 others(21): Show |
a0004a0012a0022others(4): Show | a0004c0004a0012c0011a0022c0043others(4): Show | a0004c0004t0001a0004c0004t0008a0004c0004t0026others(7): Show | a0004c0004t0001g0029 a0004c0004t0001g0030 a0004c0004t0001g0031 others(21): Show |
24 | 150 | 0.1600 | 4 | c.826 others(17): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 11/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 62037459 | T | TTGTA | intron_variant | MODIFIER | HG01070.hp1 HG01175.hp2 HG03831.hp2 others(1): Show |
a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0020 a0005c0005t0004g0021 a0005c0005t0004g0022 others(1): Show |
4 | 349 | 0.0115 | 4 | c.188 others(21): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 3/84 | chr15 | TogoVar | |||||||
VPS13D_chr1_12225030_12517047 | 12272392 | G | GGTGT | intron_variant | MODIFIER | HG02735.hp2 HG03486.hp2 HG04115.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0032 | a0001c0001t0001a0001c0008t0003a0002c0032t0001 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0008t0003g0079 others(1): Show |
4 | 51 | 0.0784 | 4 | c.210 others(21): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 17/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12285266 | G | GTATT | intron_variant | MODIFIER | HG03130.hp1 HG03540.hp1 |
a0003a0013 | a0003c0007a0013c0027 | a0003c0007t0007a0013c0027t0001 | a0003c0007t0007g0154 a0013c0027t0001g0105 |
2 | 150 | 0.0133 | 4 | c.563 others(23): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12310769 | C | CTCCT | intron_variant | MODIFIER | HG01243.hp1 HG01361.hp1 HG01928.hp1 others(5): Show |
a0001 | a0001c0003a0001c0006a0001c0008 | a0001c0003t0002a0001c0006t0010a0001c0008t0003 | a0001c0003t0002g0055 a0001c0003t0002g0056 a0001c0006t0010g0003 others(5): Show |
8 | 151 | 0.0530 | 4 | c.665 others(21): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12352965 | C | CAAAA | intron_variant | MODIFIER | HG00438.hp1 HG01361.hp2 HG01928.hp2 others(17): Show |
a0001a0008a0010 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(9): Show | a0001c0001t0001g0019 a0001c0001t0001g0123 a0001c0001t0004g0126 others(17): Show |
20 | 38 | 0.5263 | 4 | c.943 others(21): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12361395 | A | ATTTT | intron_variant | MODIFIER | HG01106.hp1 HG03516.hp2 HG04115.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0002t0001a0001c0002t0015 | a0001c0001t0015g0069 a0001c0002t0001g0089 a0001c0002t0015g0057 |
3 | 136 | 0.0221 | 4 | c.101 others(25): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12361396 | T | TTTTA | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG02056.hp1 others(13): Show |
a0001a0009 | a0001c0001a0001c0002a0009c0022 | a0001c0001t0002a0001c0001t0009a0001c0002t0002others(4): Show | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0064 others(13): Show |
16 | 152 | 0.1053 | 4 | c.101 others(25): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12361399 | A | ATTTT | intron_variant | MODIFIER | HG03098.hp2 NA18906.hp1 NA18971.hp2 others(4): Show |
a0001a0018 | a0001c0002a0001c0003a0018c0015 | a0001c0002t0004a0001c0003t0005a0001c0003t0016others(2): Show | a0001c0002t0004g0047 a0001c0003t0005g0050 a0001c0003t0005g0051 others(4): Show |
7 | 123 | 0.0569 | 4 | c.101 others(25): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12361403 | A | ATTTT | intron_variant | MODIFIER | HG01256.hp1 HG01346.hp1 HG01884.hp2 others(7): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0003t0002a0001c0003t0005others(2): Show | a0001c0003t0001g0058 a0001c0003t0002g0055 a0001c0003t0002g0056 others(7): Show |
10 | 48 | 0.2083 | 4 | c.101 others(25): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12367553 | A | AATTT | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG01106.hp1 others(46): Show |
a0001a0009a0011 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0002g0034 others(46): Show |
49 | 126 | 0.3889 | 4 | c.104 others(23): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12373095 | G | GTTTT | intron_variant | MODIFIER | HG00438.hp1 HG01099.hp2 HG01243.hp1 others(6): Show |
a0001a0006 | a0001c0001a0001c0006a0001c0008others(1): Show | a0001c0001t0006a0001c0006t0003a0001c0008t0003others(1): Show | a0001c0001t0006g0129 a0001c0001t0006g0138 a0001c0006t0003g0004 others(6): Show |
9 | 54 | 0.1667 | 4 | c.108 others(23): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12381922 | T | TTTTC | intron_variant | MODIFIER | HG00438.hp2 HG01099.hp1 HG02083.hp1 others(13): Show |
a0001a0002a0011others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0009others(9): Show | a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0002g0038 others(13): Show |
16 | 94 | 0.1702 | 4 | c.111 others(23): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12382008 | T | TCTTC | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp2 HG04115.hp1 others(2): Show |
a0001a0014 | a0001c0006a0001c0008a0001c0009others(1): Show | a0001c0006t0003a0001c0008t0003a0001c0009t0022others(1): Show | a0001c0006t0003g0009 a0001c0008t0003g0011 a0001c0008t0003g0079 others(2): Show |
5 | 142 | 0.0352 | 4 | c.111 others(23): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12382033 | C | CTCTT | intron_variant | MODIFIER | HG02717.hp1 HG03195.hp2 HG03486.hp1 |
a0004a0012 | a0004c0030a0004c0031a0012c0028 | a0004c0030t0014a0004c0031t0014a0012c0028t0013 | a0004c0030t0014g0143 a0004c0031t0014g0142 a0012c0028t0013g0141 |
3 | 152 | 0.0197 | 4 | c.111 others(23): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12395996 | G | GATAT | intron_variant | MODIFIER | HG00438.hp1 HG01071.hp2 HG01109.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0004g0126 others(6): Show |
9 | 114 | 0.0789 | 4 | c.116 others(25): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12400958 | G | GCACA | intron_variant | MODIFIER | HG00408.hp2 HG01256.hp1 NA19079.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0009a0001c0002t0002a0001c0003t0005 | a0001c0001t0009g0027 a0001c0002t0002g0028 a0001c0003t0005g0053 |
3 | 134 | 0.0224 | 4 | c.117 others(23): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12400960 | G | GCACA | intron_variant | MODIFIER | HG01433.hp1 HG02683.hp1 NA19240.hp2 others(1): Show |
a0001a0002a0018 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0022 a0001c0002t0001g0099 a0002c0004t0001g0090 others(1): Show |
4 | 88 | 0.0455 | 4 | c.117 others(23): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |