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 | 167365585 | T | TACACAC | intron_variant | MODIFIER | HG02717.hp1 HG02717.hp2 NA19030.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0004g0111a0001c0001t0005g0058a0001c0001t0006g0071others(1): Show | 4 | 118 | 0.0339 | 6 | c.-51 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167369061 | T | TTGTGTG | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG02615.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0011a0001c0001t0003g0027a0001c0001t0004g0014others(2): Show | 5 | 118 | 0.0424 | 6 | c.-51 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167400166 | C | CTGTGTG | intron_variant | MODIFIER | NA18612.hp1 NA19030.hp1 NA19030.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0108a0001c0001t0002g0113a0001c0001t0003g0002others(2): Show | 5 | 118 | 0.0424 | 6 | c.-51 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167492877 | A | ATGTGTG | intron_variant | MODIFIER | HG01891.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0037 | a0001c0001t0005g0101a0001c0001t0037g0044 | 2 | 118 | 0.0170 | 6 | c.-41 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167521980 | G | GTATATA | intron_variant | MODIFIER | HG02683.hp1 HG02717.hp2 HG03654.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0001g0043a0001c0001t0001g0098a0001c0001t0006g0071others(2): Show | 5 | 118 | 0.0424 | 6 | c.-41 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167526186 | A | AACACAC | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG02683.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0043a0001c0001t0001g0098a0001c0001t0003g0027others(3): Show | 6 | 118 | 0.0509 | 6 | c.-41 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167548685 | A | AGTGTGT | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG00741.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0015a0001c0001t0001g0062a0001c0001t0001g0105others(19): Show | 22 | 118 | 0.1864 | 6 | c.-41 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167579432 | C | CTTTTTT | intron_variant | MODIFIER | HG02004.hp1 HG02040.hp1 HG02132.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0043a0001c0001t0001g0046a0001c0001t0001g0068others(13): Show | 16 | 118 | 0.1356 | 6 | c.-40 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167612367 | T | TTTATTA | intron_variant | MODIFIER | HG02683.hp2 HG02738.hp1 HG02886.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0032a0001c0001t0001g0062a0001c0001t0002g0029others(12): Show | 15 | 118 | 0.1271 | 6 | c.-40 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167625942 | C | CATATAT | intron_variant | MODIFIER | HG00673.hp1 HG02717.hp2 NA18953.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009a0001c0001t0019 | a0001c0001t0006g0071a0001c0001t0009g0096a0001c0001t0019g0020 | 3 | 118 | 0.0254 | 6 | c.-40 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167676516 | T | TACACAC | intron_variant | MODIFIER | HG02258.hp1 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018 | a0001c0001t0002g0011a0001c0001t0018g0093 | 2 | 118 | 0.0170 | 6 | c.-35 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167776040 | G | GCACACA | intron_variant | MODIFIER | HG01106.hp2 HG02109.hp2 HG02257.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0002g0049a0001c0001t0002g0070a0001c0001t0004g0064others(9): Show | 12 | 118 | 0.1017 | 6 | c.-35 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167803081 | A | AACACAC | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0039 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0046others(5): Show | 8 | 118 | 0.0678 | 6 | c.-35 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167803081 | A | AACACAT | intron_variant | MODIFIER | HG01081.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0015a0001c0001t0008g0080 | 2 | 118 | 0.0170 | 6 | c.-35 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167812960 | T | TACACAC | intron_variant | MODIFIER | HG01081.hp2 HG02886.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0017 | a0001c0001t0001g0015a0001c0001t0008g0080a0001c0001t0017g0099 | 3 | 118 | 0.0254 | 6 | c.-35 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167825437 | G | GGTGTGT | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG00741.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0015a0001c0001t0003g0027a0001c0001t0003g0059others(14): Show | 17 | 118 | 0.1441 | 6 | c.-23 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167852467 | G | GGTGTGT | intron_variant | MODIFIER | HG02647.hp1 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0047 | a0001c0001t0002g0049a0001c0001t0047g0019 | 2 | 118 | 0.0170 | 6 | c.-22 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167863990 | A | ATGTGTG | intron_variant | MODIFIER | HG02257.hp2 HG03139.hp1 NA19007.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0020a0001c0001t0025others(1): Show | a0001c0001t0003g0059a0001c0001t0020g0063a0001c0001t0025g0004others(1): Show | 4 | 118 | 0.0339 | 6 | c.-22 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167876065 | A | ATATACG | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081a0001c0001t0001g0097 | 2 | 118 | 0.0170 | 6 | c.*60 others(17): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2021 | chr2 | TogoVar | ||||||
B3GALT2_chr1_193173730_193191613 | 193177358 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(94): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(16): Show | 97 | 398 | 0.2437 | 6 | c.*29 others(17): Show |
B3GALT2 | ENSG00000162630.6 | transcript | ENST00000367434.5 | protein_coding | 1371 | chr1 | TogoVar | ||||||
B3GALT2_chr1_193173730_193191613 | 193187102 | T | TCCCCCC | upstream_gene_variant | MODIFIER | HG00544.hp1 HG01070.hp1 HG01071.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0018others(7): Show | 39 | 398 | 0.0980 | 6 | c.-12 others(17): Show |
B3GALT2 | ENSG00000162630.6 | transcript | ENST00000367434.5 | protein_coding | 490 | chr1 | TogoVar | ||||||
B3GALT9_chr9_120788467_120806787 | 120794506 | T | TTGTGTG | intron_variant | MODIFIER | HG02165.hp1 HG02258.hp2 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0030a0001c0001t0005g0021a0001c0001t0006g0021others(1): Show | 5 | 404 | 0.0124 | 6 | c.-18 others(23): Show |
B3GALT9 | ENSG00000214654.9 | transcript | ENST00000689072.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
B3GAT1_chr11_134373508_134417242 | 134403983 | T | TTATATA | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG00609.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0040 | a0001c0001t0001g0074a0001c0001t0001g0079a0001c0001t0001g0151others(10): Show | 13 | 352 | 0.0369 | 6 | c.-28 others(25): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
B3GAT1_chr11_134373508_134417242 | 134404027 | A | ATATATT | intron_variant | MODIFIER | HG02080.hp2 HG03195.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0019 | a0001c0001t0001g0217a0001c0001t0007g0098a0001c0001t0019g0049 | 3 | 352 | 0.0085 | 6 | c.-28 others(25): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
B3GAT1_chr11_134373508_134417242 | 134411670 | G | GCACACA | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02630.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001a0002c0002t0016 | a0001c0003t0001g0235a0002c0002t0001g0234a0002c0002t0016g0018 | 3 | 352 | 0.0085 | 6 | c.-28 others(23): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70855050 | T | TCATATA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(91): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0044a0001c0001t0001g0054a0001c0001t0001g0055others(91): Show | 94 | 316 | 0.2975 | 6 | c.*66 others(17): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1628 | chr6 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70902617 | G | GATATAT | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp2 HG02451.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0019a0001c0001t0032others(3): Show | a0001c0001t0003g0126a0001c0001t0019g0019a0001c0001t0032g0004others(4): Show | 7 | 316 | 0.0222 | 6 | c.592 others(23): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
B3GAT3_chr11_62610296_62626986 | 62619699 | C | CTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(127): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(24): Show | 130 | 290 | 0.4483 | 6 | c.257 others(21): Show |
B3GAT3 | ENSG00000149541.10 | transcript | ENST00000265471.10 | protein_coding | 2/4 | chr11 | TogoVar | ||||||
B3GNT2_chr2_62191115_62229731 | 62196129 | C | CGCAGCG | 5_prime_UTR_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG03098.hp1 |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0014a0004c0012t0022 | a0001c0001t0014g0034a0001c0001t0014g0230a0004c0012t0022g0213 | 3 | 406 | 0.0074 | 6 | c.-22 others(15): Show |
B3GNT2 | ENSG00000170340.11 | transcript | ENST00000301998.5 | protein_coding | 1/2 | 26074 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
B3GNT3_chr19_17790138_17818576 | 17791966 | C | CTTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG01169.hp1 others(15): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(7): Show | a0001c0001t0002g0005a0001c0001t0002g0137a0001c0001t0002g0223others(14): Show | 18 | 406 | 0.0443 | 6 | c.-32 others(17): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 3171 | chr19 | TogoVar | ||||||
B3GNT3_chr19_17790138_17818576 | 17792609 | A | AAAAAAC | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02451.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0015a0001c0001t0016others(1): Show | a0001c0001t0009g0274a0001c0001t0015g0273a0001c0001t0015g0275others(3): Show | 7 | 406 | 0.0172 | 6 | c.-26 others(17): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 2528 | chr19 | TogoVar | ||||||
B3GNT3_chr19_17790138_17818576 | 17804533 | C | CTTTTTT | intron_variant | MODIFIER | HG01069.hp1 HG01515.hp2 HG02717.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0002g0050a0001c0001t0003g0207a0001c0001t0006g0157others(6): Show | 9 | 406 | 0.0222 | 6 | c.-50 others(23): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
B3GNT3_chr19_17790138_17818576 | 17817795 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01099.hp1 HG01169.hp2 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0002g0280a0001c0001t0003g0009a0001c0001t0003g0024others(15): Show | 19 | 406 | 0.0468 | 6 | c.*56 others(17): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 4220 | chr19 | TogoVar | ||||||
B3GNT4_chr12_122198709_122213952 | 122213507 | G | GAAAAAA | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02080.hp2 HG02135.hp1 others(14): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0030a0002c0002t0003others(3): Show | a0001c0001t0001g0002a0001c0001t0030g0002a0002c0002t0003g0004others(4): Show | 17 | 412 | 0.0413 | 6 | c.*61 others(17): Show |
B3GNT4 | ENSG00000176383.9 | transcript | ENST00000324189.5 | protein_coding | 4556 | chr12 | TogoVar | ||||||
B3GNT6_chr11_77029398_77046973 | 77038078 | G | GGGGCAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(431): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(116): Show | 434 | 442 | 0.9819 | 6 | c.1-1 others(19): Show |
B3GNT6 | ENSG00000198488.10 | transcript | ENST00000622824.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B3GNTL1_chr17_82937149_83056770 | 82940221 | G | GCGCACA | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01261.hp1 others(8): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0011others(2): Show | a0001c0001t0012a0001c0001t0015a0001c0001t0032others(4): Show | a0001c0001t0012g0148a0001c0001t0015g0249a0001c0001t0032g0162others(7): Show | 11 | 266 | 0.0414 | 6 | c.*38 others(17): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 1927 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82940229 | A | ACACACT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00558.hp2 others(37): Show |
a0001a0002 | a0001c0002a0002c0005a0002c0009others(4): Show | a0001c0002t0016a0002c0005t0003a0002c0005t0007others(7): Show | a0001c0002t0016g0135a0002c0005t0003g0052a0002c0005t0003g0053others(35): Show | 40 | 266 | 0.1504 | 6 | c.*38 others(17): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 1919 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82959021 | G | GGTGTGT | intron_variant | MODIFIER | HG01516.hp2 NA18943.hp1 NA18943.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0004a0001c0002t0010a0001c0006t0010others(2): Show | a0001c0001t0004g0238a0001c0002t0010g0126a0001c0006t0010g0010others(3): Show | 6 | 266 | 0.0226 | 6 | c.681 others(23): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 8/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83055342 | G | GGAGACA | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01261.hp1 others(3): Show |
a0001a0004 | a0001c0003a0001c0013a0004c0019 | a0001c0003t0014a0001c0013t0012a0004c0019t0004 | a0001c0003t0014g0194a0001c0013t0012g0001a0001c0013t0012g0013others(2): Show | 6 | 266 | 0.0226 | 6 | c.-35 others(17): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 3573 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83056518 | G | GGGTACC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(65): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0011a0001c0002t0002a0001c0002t0006others(16): Show | a0001c0001t0011g0067a0001c0002t0002g0065a0001c0002t0002g0072others(64): Show | 68 | 266 | 0.2556 | 6 | c.-47 others(17): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4749 | chr17 | TogoVar | ||||||
B4GALNT2_chr17_49127769_49181840 | 49129618 | A | ATTTTTT | upstream_gene_variant | MODIFIER | HG01358.hp2 HG01433.hp2 HG01884.hp2 others(9): Show |
a0001a0003a0011 | a0001c0001a0003c0003a0011c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0013a0001c0001t0001g0239a0001c0001t0002g0242others(9): Show | 12 | 380 | 0.0316 | 6 | c.-31 others(17): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 3150 | chr17 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 456435 | C | CAGATAT | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01496.hp1 HG01891.hp2 others(16): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0003a0003c0004others(7): Show | a0001c0001t0001a0001c0001t0016a0001c0001t0019others(14): Show | a0001c0001t0001g0164a0001c0001t0001g0263a0001c0001t0016g0282others(16): Show | 19 | 394 | 0.0482 | 6 | c.-39 others(17): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 3503 | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 474947 | C | CAAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG02630.hp1 others(9): Show |
a0001a0004a0006 | a0001c0001a0001c0016a0004c0028others(2): Show | a0001c0001t0002a0001c0001t0016a0001c0001t0022others(8): Show | a0001c0001t0002g0209a0001c0001t0002g0294a0001c0001t0016g0179others(9): Show | 12 | 394 | 0.0305 | 6 | c.169 others(25): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 492055 | C | CAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(187): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0010others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(115): Show | a0001c0001t0001g0014a0001c0001t0001g0021a0001c0001t0001g0033others(187): Show | 190 | 394 | 0.4822 | 6 | c.169 others(25): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 373419 | C | CCCGCCA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00733.hp1 others(43): Show |
a0001a0002a0004others(5): Show | a0001c0003a0002c0002a0002c0004others(9): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0004others(13): Show | a0001c0003t0001g0176a0001c0003t0003g0015a0001c0003t0004g0010others(43): Show | 46 | 184 | 0.2500 | 6 | c.637 others(19): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 6/19 | chr11 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33135890 | A | AGAGTGT | intron_variant | MODIFIER | HG02132.hp2 HG02559.hp1 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0031 | a0001c0001t0002g0225a0001c0001t0002g0234a0001c0001t0031g0342 | 3 | 366 | 0.0082 | 6 | c.413 others(21): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33135890 | A | AGTGTGT | intron_variant | MODIFIER | HG00280.hp1 HG01167.hp2 HG02970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0043others(2): Show | a0001c0001t0001g0169a0001c0001t0004g0164a0001c0001t0043g0168others(2): Show | 5 | 366 | 0.0137 | 6 | c.413 others(21): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33135907 | G | GTGTGTA | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01981.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0055a0001c0001t0001g0141a0001c0001t0001g0143others(1): Show | 4 | 366 | 0.0109 | 6 | c.413 others(21): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33135911 | A | ATGTGTG | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00733.hp2 others(69): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(66): Show | 72 | 366 | 0.1967 | 6 | c.413 others(21): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33148804 | T | TAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01070.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0021others(4): Show | a0001c0001t0001g0169a0001c0001t0004g0009a0001c0001t0004g0010others(16): Show | 21 | 366 | 0.0574 | 6 | c.413 others(25): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar |