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 | 167563773 | C | CGGGT | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG00738.hp1 others(99): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0015others(99): Show | 102 | 118 | 0.8644 | 4 | c.-41 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167601054 | C | CGTTT | intron_variant | MODIFIER | HG02040.hp1 NA18968.hp1 NA19056.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0076a0001c0001t0004g0013a0001c0001t0004g0064others(1): Show | 4 | 118 | 0.0339 | 4 | c.-40 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167616694 | C | CAATA | intron_variant | MODIFIER | HG00673.hp1 HG02132.hp2 NA18953.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(2): Show | a0001c0001t0001g0015a0001c0001t0001g0068a0001c0001t0004g0014others(3): Show | 6 | 118 | 0.0509 | 4 | c.-40 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167669472 | C | CAAGG | intron_variant | MODIFIER | HG02922.hp1 HG03139.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0015a0001c0001t0024others(1): Show | a0001c0001t0005g0012a0001c0001t0015g0069a0001c0001t0024g0091others(1): Show | 4 | 118 | 0.0339 | 4 | 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 | 167676480 | T | TACAC | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0025 | a0001c0001t0001g0007a0001c0001t0002g0010a0001c0001t0025g0004 | 3 | 118 | 0.0254 | 4 | 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 | 167676516 | T | TACAC | intron_variant | MODIFIER | HG02280.hp1 HG02717.hp2 HG02896.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(2): Show | a0001c0001t0001g0108a0001c0001t0006g0071a0001c0001t0010g0092others(2): Show | 5 | 118 | 0.0424 | 4 | 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 | 167698130 | G | GAGTT | intron_variant | MODIFIER | HG00558.hp1 HG00741.hp2 HG01891.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0108a0001c0001t0002g0029a0001c0001t0002g0070others(10): Show | 13 | 118 | 0.1102 | 4 | 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 | 167699378 | C | CTTTT | intron_variant | MODIFIER | HG02040.hp1 NA18968.hp1 NA19056.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0015a0001c0001t0001g0076a0001c0001t0004g0013others(2): Show | 5 | 118 | 0.0424 | 4 | 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 | 167738797 | A | ACTTT | intron_variant | MODIFIER | HG00741.hp1 HG01106.hp1 HG01169.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0007a0001c0001t0001g0023a0001c0001t0001g0043others(28): Show | 31 | 118 | 0.2627 | 4 | 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 | 167740098 | C | CTAAA | intron_variant | MODIFIER | HG00738.hp1 HG02004.hp1 HG02258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0098a0001c0001t0002g0010a0001c0001t0002g0094others(3): Show | 6 | 118 | 0.0509 | 4 | 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 | 167775681 | T | TACAC | intron_variant | MODIFIER | HG01081.hp1 HG01106.hp2 HG01255.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0007a0001c0001t0002g0001a0001c0001t0002g0010others(22): Show | 25 | 118 | 0.2119 | 4 | 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 | 167776040 | G | GCACA | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG00741.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0076a0001c0001t0001g0108a0001c0001t0003g0027others(10): Show | 13 | 118 | 0.1102 | 4 | 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 | 167792860 | A | ATTTT | intron_variant | MODIFIER | HG02109.hp1 HG03098.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027a0001c0001t0039 | a0001c0001t0001g0003a0001c0001t0001g0046a0001c0001t0027g0006others(1): Show | 4 | 118 | 0.0339 | 4 | 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 | 167803081 | A | AACAC | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG02040.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0078a0001c0001t0003g0028a0001c0001t0003g0114others(8): Show | 11 | 118 | 0.0932 | 4 | 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 | 167804799 | G | GTCTT | intron_variant | MODIFIER | HG01891.hp1 HG02647.hp1 HG02683.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0002g0049a0001c0001t0005g0024a0001c0001t0005g0101others(2): Show | 5 | 118 | 0.0424 | 4 | 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 | GGTGT | intron_variant | MODIFIER | HG00738.hp1 HG01169.hp2 HG01255.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0009a0001c0001t0010others(15): Show | a0001c0001t0003g0028a0001c0001t0003g0030a0001c0001t0003g0038others(22): Show | 25 | 118 | 0.2119 | 4 | c.-23 others(23): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167825485 | A | AAATT | intron_variant | MODIFIER | HG01496.hp1 HG03579.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0034a0001c0001t0035 | a0001c0001t0022g0047a0001c0001t0034g0103a0001c0001t0035g0041 | 3 | 118 | 0.0254 | 4 | c.-23 others(23): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167841175 | T | TAATA | intron_variant | MODIFIER | HG01255.hp1 HG01261.hp1 HG01496.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022a0001c0001t0023others(4): Show | a0001c0001t0002g0094a0001c0001t0022g0047a0001c0001t0023g0037others(4): Show | 7 | 118 | 0.0593 | 4 | 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 | 167851201 | T | TAGAG | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG00738.hp1 others(78): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0002g0001others(78): Show | 81 | 118 | 0.6864 | 4 | 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 | 167852467 | G | GGTGT | intron_variant | MODIFIER | HG01169.hp2 HG02717.hp2 HG02886.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0002g0113a0001c0001t0005g0024a0001c0001t0006g0071others(2): Show | 5 | 118 | 0.0424 | 4 | 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 | 167863990 | A | ATGTG | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG00741.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0094a0001c0001t0003g0027a0001c0001t0003g0030others(13): Show | 16 | 118 | 0.1356 | 4 | c.-22 others(23): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167876065 | A | ATATG | downstream_gene_variant | MODIFIER | HG02109.hp1 HG03098.hp2 NA18612.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0039 | a0001c0001t0001g0046a0001c0001t0001g0108a0001c0001t0039g0048 | 3 | 118 | 0.0254 | 4 | c.*60 others(15): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2021 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167876096 | T | TATAC | downstream_gene_variant | MODIFIER | HG02257.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0032 | a0001c0001t0025g0004a0001c0001t0032g0107 | 2 | 118 | 0.0170 | 4 | c.*60 others(15): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2052 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167876097 | G | GTATA | downstream_gene_variant | MODIFIER | HG00558.hp1 HG01258.hp2 HG01496.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0084a0001c0001t0006g0040a0001c0001t0006g0071others(2): Show | 5 | 118 | 0.0424 | 4 | c.*60 others(15): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2053 | chr2 | TogoVar | ||||||
B3GALT2_chr1_193173730_193191613 | 193177358 | C | CAAAA | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00642.hp1 HG00738.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0009others(2): Show | 55 | 398 | 0.1382 | 4 | c.*29 others(15): Show |
B3GALT2 | ENSG00000162630.6 | transcript | ENST00000367434.5 | protein_coding | 1371 | chr1 | TogoVar | ||||||
B3GALT4_chr6_33272123_33283825 | 33273898 | T | TAATA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(246): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(8): Show | 249 | 363 | 0.6860 | 4 | c.-35 others(15): Show |
B3GALT4 | ENSG00000235863.4 | transcript | ENST00000451237.3 | protein_coding | 3224 | chr6 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39623096 | T | TTCCC | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00558.hp2 others(101): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(59): Show | a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0107others(98): Show | 104 | 336 | 0.3095 | 4 | c.-39 others(25): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
B3GALT5_chr21_39607940_39678137 | 39623229 | C | CCCTT | intron_variant | MODIFIER | HG01255.hp1 HG02055.hp2 HG02074.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0097a0001c0001t0001g0099a0001c0001t0001g0100others(6): Show | 9 | 336 | 0.0268 | 4 | c.-39 others(25): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
B3GALT5_chr21_39607940_39678137 | 39623233 | C | CCCTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0216a0001c0001t0001g0217a0001c0001t0001g0223others(19): Show | 22 | 336 | 0.0655 | 4 | c.-39 others(25): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
B3GALT5_chr21_39607940_39678137 | 39623237 | C | CCCTT | intron_variant | MODIFIER | HG01934.hp2 HG01978.hp2 HG02132.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(4): Show | a0001c0001t0001g0164a0001c0001t0001g0165a0001c0001t0001g0167others(8): Show | 11 | 336 | 0.0327 | 4 | c.-39 others(25): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
B3GALT5_chr21_39607940_39678137 | 39639288 | C | CTCTT | intron_variant | MODIFIER | HG00673.hp1 HG01071.hp2 HG02056.hp2 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(14): Show | a0001c0001t0001g0090a0001c0001t0001g0097a0001c0001t0001g0164others(22): Show | 25 | 336 | 0.0744 | 4 | c.-39 others(23): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
B3GALT5_chr21_39607940_39678137 | 39639347 | T | TTTCC | intron_variant | MODIFIER | HG00140.hp1 HG01167.hp1 HG01952.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0002a0001c0001t0071a0001c0001t0121others(3): Show | a0001c0001t0002g0266a0001c0001t0071g0174a0001c0001t0121g0073others(3): Show | 6 | 336 | 0.0179 | 4 | c.-39 others(23): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
B3GALT5_chr21_39607940_39678137 | 39639400 | T | TTCTC | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00673.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0051a0001c0001t0001g0275others(7): Show | 10 | 336 | 0.0298 | 4 | c.-39 others(23): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
B3GALT5_chr21_39607940_39678137 | 39639400 | T | TTTTC | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG01255.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0296a0001c0001t0001g0298a0001c0001t0002g0030others(16): Show | 19 | 336 | 0.0566 | 4 | c.-39 others(23): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
B3GALT5_chr21_39607940_39678137 | 39639462 | T | TTCTC | intron_variant | MODIFIER | HG01106.hp2 HG02886.hp1 HG02965.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0090a0002c0002t0118others(1): Show | a0002c0002t0004g0313a0002c0002t0090g0119a0002c0002t0118g0314others(1): Show | 4 | 336 | 0.0119 | 4 | c.-39 others(23): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
B3GALT5_chr21_39607940_39678137 | 39670211 | C | CTGTG | 3_prime_UTR_variant | MODIFIER | HG02886.hp1 NA18977.hp2 NA18982.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0036a0002c0002t0086a0002c0002t0118 | a0002c0002t0036g0003a0002c0002t0086g0096a0002c0002t0118g0314 | 4 | 336 | 0.0119 | 4 | c.*87 others(15): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 4/4 | 8745 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
B3GALT6_chr1_1227237_1240041 | 1228431 | G | GGACA | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(114): Show |
a0001a0006a0007 | a0001c0001a0001c0011a0006c0012others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(6): Show | a0001c0001t0001g0000a0001c0001t0004g0000a0001c0001t0010g0000others(6): Show | 117 | 366 | 0.3197 | 4 | c.-38 others(15): Show |
B3GALT6 | ENSG00000176022.7 | transcript | ENST00000379198.5 | protein_coding | 3805 | chr1 | TogoVar | ||||||
B3GALT9_chr9_120788467_120806787 | 120794506 | T | TTGTG | intron_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG02647.hp2 others(12): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0001g0008a0001c0001t0001g0024a0001c0001t0001g0029others(6): Show | 15 | 404 | 0.0371 | 4 | c.-18 others(21): Show |
B3GALT9 | ENSG00000214654.9 | transcript | ENST00000689072.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
B3GAT1_chr11_134373508_134417242 | 134382306 | A | AGTGT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(151): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0010others(143): Show | 154 | 352 | 0.4375 | 4 | c.919 others(19): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 4/5 | chr11 | TogoVar | ||||||
B3GAT1_chr11_134373508_134417242 | 134403983 | T | TTATA | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00642.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0010a0001c0001t0001g0062a0001c0001t0001g0073others(37): Show | 43 | 352 | 0.1222 | 4 | c.-28 others(23): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
B3GAT1_chr11_134373508_134417242 | 134411670 | G | GCACA | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp1 HG01891.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0224a0001c0001t0001g0230a0001c0001t0001g0237others(13): Show | 16 | 352 | 0.0455 | 4 | c.-28 others(21): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70859545 | T | TGTAA | 3_prime_UTR_variant | MODIFIER | NA18945.hp2 NA18997.hp1 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0052a0001c0001t0071a0001c0001t0072 | a0001c0001t0052g0015a0001c0001t0071g0038a0001c0001t0072g0036 | 3 | 316 | 0.0095 | 4 | c.*21 others(15): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 4/4 | 2117 | chr6 | TogoVar | |||||
B3GAT2_chr6_70851679_70962060 | 70870631 | A | AAAAC | intron_variant | MODIFIER | HG00408.hp2 HG01074.hp1 HG02015.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0019a0001c0002t0021others(1): Show | a0001c0001t0010g0094a0001c0001t0010g0122a0001c0001t0010g0157others(8): Show | 11 | 316 | 0.0348 | 4 | c.737 others(21): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 2/3 | chr6 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70891748 | T | TTGTG | intron_variant | MODIFIER | HG00642.hp2 HG02258.hp2 HG02559.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0023others(3): Show | a0001c0001t0003g0154a0001c0001t0004g0052a0001c0001t0004g0056others(5): Show | 8 | 316 | 0.0253 | 4 | c.736 others(21): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 2/3 | chr6 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70898963 | A | AAAAT | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp2 HG01192.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0002g0151a0001c0001t0003g0126a0001c0001t0004g0164others(21): Show | 24 | 316 | 0.0760 | 4 | c.592 others(21): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70902617 | G | GATAT | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(57): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0117a0001c0001t0001g0145a0001c0001t0001g0156others(57): Show | 60 | 316 | 0.1899 | 4 | c.592 others(21): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70954915 | C | CGGGG | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG01168.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0042a0001c0001t0001g0044a0001c0001t0001g0046others(19): Show | 22 | 316 | 0.0696 | 4 | c.591 others(19): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70959038 | C | CTGTG | upstream_gene_variant | MODIFIER | HG00621.hp1 HG01099.hp2 HG02056.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0001g0079a0001c0001t0003g0080a0001c0001t0010g0039others(4): Show | 7 | 316 | 0.0222 | 4 | c.-26 others(15): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1979 | chr6 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31276666 | C | CACAT | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01123.hp1 others(12): Show |
a0002 | a0002c0002a0002c0010 | a0002c0002t0003a0002c0002t0019a0002c0010t0003 | a0002c0002t0003g0002a0002c0002t0003g0012a0002c0002t0003g0067others(11): Show | 15 | 268 | 0.0560 | 4 | c.781 others(17): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
B3GLCT_chr13_31194975_31337276 | 31308362 | A | AAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00621.hp1 others(68): Show |
a0002a0005a0007 | a0002c0002a0002c0003a0002c0007others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(14): Show | a0002c0002t0001g0252a0002c0002t0002g0017a0002c0002t0002g0064others(67): Show | 71 | 268 | 0.2649 | 4 | c.106 others(23): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |