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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
B3GALT1_chr2_167288001_167879045 | 167563900 | C | CGGG | intron_variant | MODIFIER | HG00738.hp2 HG01261.hp2 HG02738.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0081 a0001c0001t0001g0097 a0001c0001t0003g0030 others(2): Show |
5 | 34 | 0.1471 | 3 | c.-41 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167579432 | C | CTTT | intron_variant | MODIFIER | HG01255.hp1 HG01496.hp1 HG02717.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0076 a0001c0001t0002g0113 a0001c0001t0006g0071 others(8): Show |
11 | 33 | 0.3333 | 3 | c.-40 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167610910 | C | CAAA | intron_variant | MODIFIER | HG00673.hp1 HG00738.hp1 HG00741.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(19): Show | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0068 others(26): Show |
29 | 47 | 0.6170 | 3 | c.-40 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167612367 | T | TTTA | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00738.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0007 a0001c0001t0001g0046 a0001c0001t0001g0084 others(49): Show |
52 | 63 | 0.8254 | 3 | c.-40 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167640380 | A | AATG | intron_variant | MODIFIER | HG00673.hp2 HG00738.hp2 HG01106.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0023 a0001c0001t0001g0043 a0001c0001t0001g0062 others(33): Show |
36 | 116 | 0.3103 | 3 | c.-40 others(22): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167644779 | T | TAAA | intron_variant | MODIFIER | HG01169.hp2 HG01255.hp1 HG01496.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0012a0001c0001t0021others(8): Show | a0001c0001t0003g0002 a0001c0001t0012g0050 a0001c0001t0021g0035 others(8): Show |
11 | 22 | 0.5000 | 3 | c.-40 others(22): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167645553 | A | ATTT | intron_variant | MODIFIER | HG00558.hp1 HG00741.hp1 HG00741.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0046 others(12): Show |
15 | 27 | 0.5556 | 3 | c.-40 others(22): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167696296 | C | CAAA | intron_variant | MODIFIER | HG01169.hp2 HG02257.hp1 HG02738.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0046 a0001c0001t0002g0001 a0001c0001t0002g0094 others(5): Show |
8 | 59 | 0.1356 | 3 | c.-35 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167699380 | A | ATTT | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG00741.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0043 others(22): Show |
25 | 45 | 0.5556 | 3 | c.-35 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167792860 | A | ATTT | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG00738.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0078 a0001c0001t0001g0105 a0001c0001t0002g0073 others(22): Show |
25 | 86 | 0.2907 | 3 | c.-35 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167830375 | T | TAAA | intron_variant | MODIFIER | HG01255.hp1 HG01261.hp1 HG02257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0013others(4): Show | a0001c0001t0002g0094 a0001c0001t0010g0075 a0001c0001t0013g0056 others(4): Show |
7 | 98 | 0.0714 | 3 | c.-23 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT2_chr1_193173730_193191613 | 193177358 | C | CAAA | downstream_gene_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02145.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0002g0010 others(3): Show |
16 | 145 | 0.1103 | 3 | c.*29 others(14): Show |
B3GALT2 | ENSG00000162630.6 | transcript | ENST00000367434.5 | protein_coding | 1371 | chr1 | TogoVar | |||||||
B3GALT4_chr6_33272123_33283825 | 33281537 | T | TAGC | downstream_gene_variant | MODIFIER | HG01192.hp1 HG01243.hp1 HG02027.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 20 | 362 | 0.0552 | 3 | c.*29 others(14): Show |
B3GALT4 | ENSG00000235863.4 | transcript | ENST00000451237.3 | protein_coding | 2713 | chr6 | TogoVar | |||||||
B3GALT5_chr21_39607940_39678137 | 39644864 | C | CCTG | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(126): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(55): Show | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0046 others(123): Show |
129 | 334 | 0.3862 | 3 | c.-39 others(22): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
B3GALT5_chr21_39607940_39678137 | 39669269 | A | ATTT | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG02258.hp2 HG02486.hp2 others(8): Show |
a0002a0004 | a0002c0002a0004c0007 | a0002c0002t0016a0002c0002t0043a0002c0002t0090others(4): Show | a0002c0002t0016g0022 a0002c0002t0016g0179 a0002c0002t0016g0184 others(8): Show |
11 | 332 | 0.0331 | 3 | c.*77 others(14): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 4/4 | 7789 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
B3GALT6_chr1_1227237_1240041 | 1230462 | A | ATTT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(47): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0018a0001c0002t0023others(2): Show | a0001c0002t0001g0000 a0001c0002t0018g0000 a0001c0002t0023g0000 others(2): Show |
50 | 357 | 0.1401 | 3 | c.-18 others(14): Show |
B3GALT6 | ENSG00000176022.7 | transcript | ENST00000379198.5 | protein_coding | 1774 | chr1 | TogoVar | |||||||
B3GAT1_chr11_134373508_134417242 | 134403107 | C | CACA | intron_variant | MODIFIER | HG02258.hp2 HG02723.hp2 HG06807.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0012a0001c0003t0001 | a0001c0001t0012g0240 a0001c0001t0012g0241 a0001c0001t0012g0245 others(1): Show |
4 | 350 | 0.0114 | 3 | c.-28 others(22): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
B3GAT2_chr6_70851679_70962060 | 70879189 | T | TTTG | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(108): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(35): Show | a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0001g0044 others(106): Show |
111 | 314 | 0.3535 | 3 | c.736 others(22): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 2/3 | chr6 | TogoVar | |||||||
B3GAT2_chr6_70851679_70962060 | 70895495 | A | ATTT | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00621.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0056 others(43): Show |
46 | 100 | 0.4600 | 3 | c.592 others(20): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
B3GAT2_chr6_70851679_70962060 | 70895537 | A | ACTC | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(114): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0001g0044 others(112): Show |
117 | 314 | 0.3726 | 3 | c.592 others(20): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
B3GAT2_chr6_70851679_70962060 | 70954915 | C | CGGG | intron_variant | MODIFIER | HG00673.hp1 HG01975.hp1 HG01993.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 others(34): Show |
38 | 241 | 0.1577 | 3 | c.591 others(18): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
B3GAT2_chr6_70851679_70962060 | 70955175 | C | CAAA | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02818.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0035others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0102 a0001c0001t0001g0170 others(8): Show |
12 | 132 | 0.0909 | 3 | c.591 others(18): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31213621 | A | ACCC | intron_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG01169.hp2 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0001g0045 a0001c0001t0001g0057 a0001c0001t0001g0090 others(29): Show |
32 | 77 | 0.4156 | 3 | c.71- others(18): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31282649 | C | CAAA | intron_variant | MODIFIER | HG00639.hp1 HG02451.hp2 HG02896.hp1 others(4): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0002a0002c0002t0003a0002c0003t0021 | a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0218 others(4): Show |
7 | 29 | 0.2414 | 3 | c.851 others(20): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31328692 | C | CAAA | intron_variant | MODIFIER | HG02074.hp1 HG02280.hp1 HG02559.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0003others(2): Show | a0001c0001t0001g0108 a0001c0001t0005g0101 a0002c0002t0003g0263 others(5): Show |
8 | 60 | 0.1333 | 3 | c.133 others(20): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31333167 | C | CAAA | downstream_gene_variant | MODIFIER | HG00673.hp1 HG01167.hp1 HG01175.hp1 others(19): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0004a0001c0001t0006a0002c0002t0004others(2): Show | a0001c0001t0004g0001 a0001c0001t0004g0033 a0001c0001t0004g0039 others(18): Show |
22 | 57 | 0.3860 | 3 | c.*34 others(14): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 892 | chr13 | TogoVar | |||||||
B3GNT3_chr19_17790138_17818576 | 17791264 | C | CAAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(46): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0133 a0001c0001t0002g0138 a0001c0001t0002g0210 others(39): Show |
49 | 371 | 0.1321 | 3 | c.-39 others(14): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 3873 | chr19 | TogoVar | |||||||
B3GNT3_chr19_17790138_17818576 | 17791267 | C | CAAA | upstream_gene_variant | MODIFIER | HG00408.hp2 HG01069.hp1 HG01071.hp1 others(29): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0005 a0001c0001t0002g0015 a0001c0001t0002g0016 others(22): Show |
32 | 284 | 0.1127 | 3 | c.-39 others(14): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 3870 | chr19 | TogoVar | |||||||
B3GNT3_chr19_17790138_17818576 | 17792577 | C | CAAA | upstream_gene_variant | MODIFIER | HG01496.hp2 HG01515.hp1 HG01516.hp2 others(15): Show |
a0001a0004a0007 | a0001c0001a0001c0003a0004c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 others(12): Show |
18 | 330 | 0.0545 | 3 | c.-26 others(14): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 2560 | chr19 | TogoVar | |||||||
B3GNT3_chr19_17790138_17818576 | 17793073 | C | CTTT | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02056.hp1 NA18959.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0024 | a0001c0001t0002g0016 a0001c0001t0002g0194 a0001c0001t0002g0207 others(2): Show |
6 | 269 | 0.0223 | 3 | c.-21 others(14): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 2064 | chr19 | TogoVar | |||||||
B3GNT3_chr19_17790138_17818576 | 17804533 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00741.hp2 others(31): Show |
a0001a0005a0007 | a0001c0001a0005c0008a0007c0012 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0048 a0001c0001t0002g0229 a0001c0001t0002g0275 others(26): Show |
34 | 35 | 0.9714 | 3 | c.-50 others(20): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
B3GNT3_chr19_17790138_17818576 | 17805106 | A | ATTT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(85): Show |
a0001a0008 | a0001c0001a0001c0003a0008c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0190 a0001c0001t0002g0015 a0001c0001t0002g0016 others(69): Show |
88 | 313 | 0.2812 | 3 | c.-50 others(20): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
B3GNT3_chr19_17790138_17818576 | 17815518 | C | CAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00738.hp1 others(52): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0002g0138 a0001c0001t0002g0211 a0001c0001t0002g0270 others(46): Show |
55 | 267 | 0.2060 | 3 | c.*33 others(14): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 1943 | chr19 | TogoVar | |||||||
B3GNT3_chr19_17790138_17818576 | 17817795 | C | CAAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(27): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0016 a0001c0001t0002g0051 a0001c0001t0002g0191 others(24): Show |
30 | 88 | 0.3409 | 3 | c.*56 others(14): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 4220 | chr19 | TogoVar | |||||||
B3GNT4_chr12_122198709_122213952 | 122204562 | C | CCCG | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(46): Show |
a0002a0004a0009 | a0002c0002a0004c0004a0009c0016 | a0002c0002t0005a0002c0002t0007a0002c0002t0035others(2): Show | a0002c0002t0005g0001 a0002c0002t0005g0004 a0002c0002t0005g0026 others(5): Show |
49 | 400 | 0.1225 | 3 | c.-42 others(10): Show |
B3GNT4 | ENSG00000176383.9 | transcript | ENST00000324189.5 | protein_coding | 2/3 | 39 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B3GNT4_chr12_122198709_122213952 | 122211077 | T | TAAA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(49): Show |
a0001a0002 | a0001c0001a0001c0014a0001c0015others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0004g0018 others(9): Show |
52 | 156 | 0.3333 | 3 | c.*36 others(14): Show |
B3GNT4 | ENSG00000176383.9 | transcript | ENST00000324189.5 | protein_coding | 2126 | chr12 | TogoVar | |||||||
B3GNT5_chr3_183248253_183278385 | 183257958 | C | CTTT | intron_variant | MODIFIER | HG00738.hp2 HG01106.hp1 HG01952.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014 | a0001c0001t0001g0020 a0001c0001t0001g0058 a0001c0001t0001g0153 others(9): Show |
14 | 25 | 0.5600 | 3 | c.-30 others(22): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
B3GNT5_chr3_183248253_183278385 | 183277459 | C | CTTT | downstream_gene_variant | MODIFIER | HG01081.hp2 HG02257.hp2 HG02572.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0014 a0001c0001t0005g0046 a0001c0001t0005g0054 others(3): Show |
10 | 387 | 0.0258 | 3 | c.*65 others(14): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 4075 | chr3 | TogoVar | |||||||
B3GNT6_chr11_77029398_77046973 | 77031955 | A | ATTT | upstream_gene_variant | MODIFIER | HG01255.hp2 HG01258.hp1 HG01433.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0014a0001c0002t0005others(1): Show | a0001c0001t0002g0002 a0001c0001t0014g0027 a0001c0002t0005g0005 others(2): Show |
9 | 229 | 0.0393 | 3 | c.-25 others(14): Show |
B3GNT6 | ENSG00000198488.10 | transcript | ENST00000622824.1 | protein_coding | 2442 | chr11 | TogoVar | |||||||
B3GNT9_chr16_67143104_67155998 | 67152678 | C | CAAA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG02145.hp1 HG02451.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0001 a0001c0001t0009g0012 |
11 | 258 | 0.0426 | 3 | c.-20 others(14): Show |
B3GNT9 | ENSG00000237172.4 | transcript | ENST00000449549.4 | protein_coding | 1681 | chr16 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82941898 | C | CTCT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(158): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(46): Show | a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0134 others(156): Show |
161 | 266 | 0.6053 | 3 | c.*21 others(14): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 250 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82958956 | A | ATGG | intron_variant | MODIFIER | HG01074.hp1 HG02027.hp2 HG02809.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0006a0002c0009a0003c0021others(4): Show | a0001c0006t0001a0002c0009t0013a0002c0009t0024others(5): Show | a0001c0006t0001g0019 a0002c0009t0013g0067 a0002c0009t0013g0088 others(8): Show |
11 | 264 | 0.0417 | 3 | c.681 others(20): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 8/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82964024 | A | AGGG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(79): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0062 a0001c0001t0001g0178 a0001c0001t0002g0059 others(79): Show |
82 | 228 | 0.3596 | 3 | c.555 others(20): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 7/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82964027 | T | TGGG | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00673.hp2 others(79): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(38): Show | a0001c0001t0001g0004 a0001c0001t0001g0166 a0001c0001t0001g0167 others(75): Show |
82 | 113 | 0.7257 | 3 | c.555 others(20): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 7/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82964255 | C | CAAA | intron_variant | MODIFIER | HG00597.hp1 HG00639.hp1 HG01069.hp2 others(28): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(17): Show | a0001c0001t0001g0004 a0001c0001t0001g0166 a0001c0001t0001g0167 others(27): Show |
31 | 74 | 0.4189 | 3 | c.555 others(20): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 7/12 | chr17 | TogoVar | |||||||
B4GALNT1_chr12_57618409_57638201 | 57634082 | A | ACCC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0027others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(7): Show |
51 | 154 | 0.3312 | 3 | c.-13 others(14): Show |
B4GALNT1 | ENSG00000135454.14 | transcript | ENST00000341156.9 | protein_coding | 882 | chr12 | TogoVar | |||||||
B4GALNT1_chr12_57618409_57638201 | 57636625 | C | CATT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp2 others(102): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0004others(5): Show | a0001c0001t0001a0001c0001t0026a0002c0002t0003others(22): Show | a0001c0001t0001g0001 a0001c0001t0026g0059 a0002c0002t0003g0003 others(30): Show |
105 | 404 | 0.2599 | 3 | c.-38 others(14): Show |
B4GALNT1 | ENSG00000135454.14 | transcript | ENST00000341156.9 | protein_coding | 3425 | chr12 | TogoVar | |||||||
B4GALNT2_chr17_49127769_49181840 | 49131462 | G | GAAA | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01261.hp2 HG01978.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0314 a0001c0001t0002g0334 a0001c0001t0003g0001 others(7): Show |
11 | 131 | 0.0840 | 3 | c.-13 others(14): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 1306 | chr17 | TogoVar | |||||||
B4GALNT2_chr17_49127769_49181840 | 49140725 | C | CTTT | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01167.hp2 others(11): Show |
a0001a0002a0007 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0013a0001c0005t0008others(3): Show | a0001c0001t0002g0010 a0001c0001t0002g0165 a0001c0001t0002g0166 others(9): Show |
14 | 16 | 0.8750 | 3 | c.15- others(16): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
B4GALNT2_chr17_49127769_49181840 | 49143839 | C | CTCT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(142): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(27): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 others(129): Show |
145 | 378 | 0.3836 | 3 | c.353 others(20): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |