regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | 167625942 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0105a0001c0001t0010g0092 | 2 | 118 | 0.0170 | 8 | c.-40 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167740098 | C | CTAAATAA others(1): Show |
intron_variant | MODIFIER | NA19068.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0113a0001c0001t0003g0112 | 2 | 118 | 0.0170 | 8 | c.-35 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167776040 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03225.hp2 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0011a0001c0001t0003g0002a0001c0001t0005g0012others(1): Show | 4 | 118 | 0.0339 | 8 | c.-35 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167863990 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG03098.hp1 NA18968.hp1 NA18968.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0003t0044 | a0001c0001t0003g0028a0001c0001t0004g0014a0001c0001t0004g0064others(2): Show | 5 | 118 | 0.0424 | 8 | c.-22 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT2_chr1_193173730_193191613 | 193187102 | T | TCCCCCCC others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00609.hp2 others(83): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0009others(15): Show | 86 | 398 | 0.2161 | 8 | c.-12 others(19): Show |
B3GALT2 | ENSG00000162630.6 | transcript | ENST00000367434.5 | protein_coding | 490 | chr1 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39623233 | C | CCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01071.hp2 HG01081.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(10): Show | a0001c0001t0001g0238a0001c0001t0001g0240a0001c0001t0001g0241others(20): Show | 25 | 336 | 0.0744 | 8 | c.-39 others(29): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
B3GALT5_chr21_39607940_39678137 | 39623237 | C | CCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01167.hp1 HG01192.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(5): Show | a0001c0001t0001g0173a0001c0001t0005g0175a0001c0001t0013g0172others(6): Show | 9 | 336 | 0.0268 | 8 | c.-39 others(29): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
B3GALT5_chr21_39607940_39678137 | 39639288 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0049a0001c0001t0001g0051a0001c0001t0001g0075others(15): Show | 18 | 336 | 0.0536 | 8 | c.-39 others(27): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
B3GALT5_chr21_39607940_39678137 | 39639347 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 NA18960.hp1 NA20300.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0038 | a0001c0001t0001g0080a0001c0001t0002g0265a0002c0002t0038g0156 | 3 | 336 | 0.0089 | 8 | c.-39 others(27): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
B3GALT5_chr21_39607940_39678137 | 39639347 | T | TTTCTTTC others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00642.hp2 HG01123.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0217a0001c0001t0002g0152a0001c0001t0007g0187others(10): Show | 13 | 336 | 0.0387 | 8 | c.-39 others(27): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
B3GALT5_chr21_39607940_39678137 | 39639400 | T | TTCTCTTT others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01361.hp2 HG04199.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0099a0001c0001t0002g0301a0001c0001t0005g0012others(4): Show | 7 | 336 | 0.0208 | 8 | c.-39 others(27): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
B3GALT5_chr21_39607940_39678137 | 39639400 | T | TTCTTTTT others(1): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02818.hp2 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0241a0001c0001t0001g0274a0001c0001t0007g0291 | 3 | 336 | 0.0089 | 8 | c.-39 others(27): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
B3GALT5_chr21_39607940_39678137 | 39639400 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01071.hp2 HG02132.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0058others(7): Show | a0001c0001t0001g0196a0001c0001t0001g0245a0001c0001t0007g0133others(9): Show | 12 | 336 | 0.0357 | 8 | c.-39 others(27): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
B3GALT5_chr21_39607940_39678137 | 39639484 | T | TTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01099.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0009a0001c0001t0012a0001c0001t0017others(11): Show | a0001c0001t0009g0061a0001c0001t0012g0200a0001c0001t0017g0046others(16): Show | 19 | 336 | 0.0566 | 8 | c.-39 others(27): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
B3GALT5_chr21_39607940_39678137 | 39670211 | C | CTGTGTGT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG01106.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0032a0001c0001t0059a0001c0001t0072others(5): Show | a0001c0001t0032g0011a0001c0001t0032g0287a0001c0001t0059g0224others(9): Show | 13 | 336 | 0.0387 | 8 | c.*87 others(19): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 4/4 | 8745 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
B3GAT1_chr11_134373508_134417242 | 134403983 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18612.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0160a0001c0001t0001g0212a0001c0001t0003g0084 | 3 | 352 | 0.0085 | 8 | c.-28 others(27): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
B3GAT1_chr11_134373508_134417242 | 134411670 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02922.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0236a0001c0001t0001g0238a0001c0001t0001g0239others(1): Show | 4 | 352 | 0.0114 | 8 | c.-28 others(25): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70879480 | G | GATTCATT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG01934.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0001t0012a0001c0001t0023others(6): Show | a0001c0001t0002g0069a0001c0001t0012g0030a0001c0001t0023g0076others(7): Show | 10 | 316 | 0.0317 | 8 | c.736 others(27): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 2/3 | chr6 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70891748 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG02109.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(4): Show | a0001c0001t0001g0171a0001c0001t0002g0065a0001c0001t0002g0069others(7): Show | 10 | 316 | 0.0317 | 8 | c.736 others(25): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 2/3 | chr6 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70902617 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01074.hp1 HG01168.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0012a0001c0001t0017others(6): Show | a0001c0001t0003g0168a0001c0001t0012g0030a0001c0001t0017g0007others(11): Show | 14 | 316 | 0.0443 | 8 | c.592 others(25): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70902631 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02559.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0036a0001c0001t0045 | a0001c0001t0036g0104a0001c0001t0036g0138a0001c0001t0045g0003 | 3 | 316 | 0.0095 | 8 | c.592 others(25): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31253618 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00558.hp2 others(85): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0010others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0001g0043a0001c0001t0001g0051a0001c0001t0001g0062others(85): Show | 88 | 268 | 0.3284 | 8 | c.459 others(25): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
B3GLCT_chr13_31194975_31337276 | 31308356 | A | AACAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00621.hp1 others(64): Show |
a0002a0005 | a0002c0002a0002c0003a0002c0008others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(11): Show | a0002c0002t0001g0252a0002c0002t0002g0017a0002c0002t0002g0064others(63): Show | 67 | 268 | 0.2500 | 8 | c.106 others(27): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
B3GNT3_chr19_17790138_17818576 | 17791966 | C | CTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00733.hp2 others(39): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0012 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0007a0001c0001t0002g0014a0001c0001t0002g0015others(32): Show | 42 | 406 | 0.1035 | 8 | c.-32 others(19): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 3171 | chr19 | TogoVar | ||||||
B3GNT3_chr19_17790138_17818576 | 17804533 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00741.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0036a0001c0001t0002g0134a0001c0001t0002g0216others(22): Show | 27 | 406 | 0.0665 | 8 | c.-50 others(25): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
B3GNT3_chr19_17790138_17818576 | 17817795 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01175.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0282a0001c0001t0003g0009a0001c0001t0003g0149others(5): Show | 8 | 406 | 0.0197 | 8 | c.*56 others(19): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 4220 | chr19 | TogoVar | ||||||
B3GNT5_chr3_183248253_183278385 | 183257958 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02071.hp2 HG02602.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0044a0001c0001t0001g0199a0001c0001t0001g0201others(4): Show | 8 | 390 | 0.0205 | 8 | c.-30 others(27): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
B3GNT6_chr11_77029398_77046973 | 77031780 | C | CTTATTTA others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00673.hp1 HG01167.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0035others(14): Show | 30 | 442 | 0.0679 | 8 | c.-26 others(19): Show |
B3GNT6 | ENSG00000198488.10 | transcript | ENST00000622824.1 | protein_coding | 2617 | chr11 | TogoVar | ||||||
B3GNT8_chr19_41420359_41432374 | 41429825 | G | GTTTCTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(234): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0032others(20): Show | 237 | 420 | 0.5643 | 8 | c.-25 others(19): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 2452 | chr19 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83002879 | G | GCCCGCCC others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01361.hp1 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0001t0022a0001c0001t0032others(13): Show | a0001c0001t0002g0058a0001c0001t0022g0239a0001c0001t0032g0162others(19): Show | 22 | 266 | 0.0827 | 8 | c.459 others(25): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83003180 | G | GCCCGCCC others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01934.hp1 HG02080.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0002a0001c0001t0017a0001c0001t0019others(9): Show | a0001c0001t0002g0178a0001c0001t0002g0183a0001c0001t0017g0177others(11): Show | 14 | 266 | 0.0526 | 8 | c.459 others(25): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B4GALNT2_chr17_49127769_49181840 | 49176473 | C | CAGCAGGA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00741.hp2 others(44): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0006others(3): Show | a0001c0001t0010a0001c0001t0056a0001c0001t0057others(9): Show | a0001c0001t0010g0012a0001c0001t0010g0231a0001c0001t0010g0244others(40): Show | 47 | 380 | 0.1237 | 8 | c.*67 others(19): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 11/11 | 6746 | chr17 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 471384 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01496.hp2 others(17): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(14): Show | a0001c0001t0001g0257a0001c0001t0001g0261a0001c0001t0004g0214others(17): Show | 20 | 394 | 0.0508 | 8 | c.169 others(27): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 471720 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02109.hp1 HG02109.hp2 others(8): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0013others(6): Show | a0001c0001t0002a0001c0001t0020a0001c0002t0013others(8): Show | a0001c0001t0002g0126a0001c0001t0020g0130a0001c0002t0013g0175others(8): Show | 11 | 394 | 0.0279 | 8 | c.169 others(27): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 499515 | A | AGAACACT others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG01106.hp2 others(80): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0010others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0014a0001c0001t0001g0116a0001c0001t0001g0223others(80): Show | 83 | 394 | 0.2107 | 8 | c.170 others(27): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 500865 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00738.hp2 others(83): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0013others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0014a0001c0001t0001g0034a0001c0001t0001g0223others(83): Show | 86 | 394 | 0.2183 | 8 | c.170 others(27): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 525086 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02071.hp1 HG02109.hp2 others(15): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0048a0003c0004others(3): Show | a0001c0001t0001a0001c0001t0022a0001c0001t0031others(12): Show | a0001c0001t0001g0069a0001c0001t0001g0194a0001c0001t0022g0036others(15): Show | 18 | 394 | 0.0457 | 8 | c.170 others(27): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 525086 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02258.hp2 HG02717.hp1 others(1): Show |
a0001a0003a0007 | a0001c0001a0003c0004a0007c0008 | a0001c0001t0016a0003c0004t0029a0007c0008t0002others(1): Show | a0001c0001t0016g0179a0003c0004t0029g0300a0007c0008t0002g0004others(1): Show | 4 | 394 | 0.0102 | 8 | c.170 others(27): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 374804 | G | GGAGGAGG others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02132.hp2 HG02683.hp2 others(2): Show |
a0001a0002a0015 | a0001c0001a0001c0023a0002c0004others(2): Show | a0001c0001t0001a0001c0023t0002a0002c0004t0001others(2): Show | a0001c0001t0001g0074a0001c0023t0002g0041a0002c0004t0001g0168others(2): Show | 5 | 184 | 0.0272 | 8 | c.784 others(23): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 374880 | G | GAGGGAGG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01070.hp2 others(11): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0103a0001c0003t0001g0105a0002c0002t0001g0117others(11): Show | 14 | 184 | 0.0761 | 8 | c.784 others(23): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALT1_chr9_33105642_33172336 | 33135890 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01123.hp2 HG01192.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0019a0001c0001t0021 | a0001c0001t0004g0159a0001c0001t0004g0160a0001c0001t0004g0161others(4): Show | 7 | 366 | 0.0191 | 8 | c.413 others(23): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33135905 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG01934.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0046a0001c0001t0001g0057others(14): Show | 19 | 366 | 0.0519 | 8 | c.413 others(23): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33135911 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG01123.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0058a0001c0001t0001g0060a0001c0001t0001g0063others(16): Show | 19 | 366 | 0.0519 | 8 | c.413 others(23): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33150233 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01358.hp1 HG01928.hp1 others(12): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0028others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0088a0001c0001t0001g0093others(11): Show | 15 | 366 | 0.0410 | 8 | c.413 others(27): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33157063 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01884.hp2 HG02257.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0003g0319a0001c0001t0007g0330a0001c0001t0008g0331others(9): Show | 13 | 366 | 0.0355 | 8 | c.412 others(25): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33157121 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00544.hp2 others(52): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0198a0001c0001t0002g0192a0001c0001t0002g0196others(51): Show | 55 | 366 | 0.1503 | 8 | c.412 others(25): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT2_chr1_43974210_43996168 | 43994422 | G | GTTTCTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02280.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0001a0001c0001t0001g0142a0001c0001t0005g0020others(4): Show | 12 | 406 | 0.0296 | 8 | c.*39 others(19): Show |
B4GALT2 | ENSG00000117411.18 | transcript | ENST00000372324.6 | protein_coding | 3255 | chr1 | TogoVar | ||||||
B4GALT3_chr1_161166310_161182507 | 161179281 | T | TTTCCTTC others(1): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG01106.hp2 HG01928.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(1): Show | 14 | 374 | 0.0374 | 8 | c.-20 others(19): Show |
B4GALT3 | ENSG00000158850.15 | transcript | ENST00000319769.10 | protein_coding | 1775 | chr1 | TogoVar | ||||||
B4GALT5_chr20_49627945_49718878 | 49633439 | G | GTTTTTTT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(55): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0020a0001c0001t0021others(7): Show | a0001c0001t0002g0025a0001c0001t0002g0026a0001c0001t0002g0027others(55): Show | 58 | 364 | 0.1593 | 8 | c.*28 others(19): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 9/9 | 2872 | chr20 | TogoVar | |||||
B4GALT5_chr20_49627945_49718878 | 49636907 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02451.hp2 HG02615.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0006a0001c0001t0008a0001c0001t0033others(1): Show | a0001c0001t0006g0175a0001c0001t0006g0176a0001c0001t0006g0177others(9): Show | 12 | 364 | 0.0330 | 8 | c.101 others(25): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 8/8 | chr20 | TogoVar |