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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AZU1_chr19_822837_837018 | 829936 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02165.hp1 NA18940.hp2 NA19085.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0071a0001c0002t0001g0029 | 3 | 391 | 0.0077 | -8 | c.360 others(23): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
B2M_chr15_44706517_44723145 | 44714453 | GTAAGAAC others(1): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp2 HG02559.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009a0001c0001t0003g0037a0001c0001t0003g0041 | 7 | 385 | 0.0182 | -8 | c.68- others(21): Show |
B2M | ENSG00000166710.23 | transcript | ENST00000648006.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
B2M_chr15_44706517_44723145 | 44721362 | GACACACA others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(198): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(15): Show | 201 | 385 | 0.5221 | -8 | c.*37 others(19): Show |
B2M | ENSG00000166710.23 | transcript | ENST00000648006.3 | protein_coding | 3218 | chr15 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235474950 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01109.hp2 HG01123.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0002g0036a0001c0001t0004g0206a0001c0001t0004g0238others(22): Show | 25 | 344 | 0.0727 | -8 | c.652 others(25): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235480905 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00558.hp1 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(8): Show | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0001g0111others(51): Show | 54 | 344 | 0.1570 | -8 | c.556 others(23): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 4/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235488623 | GCAGTGAG others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00558.hp2 others(95): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0016a0001c0001t0020a0001c0001t0025others(27): Show | a0001c0001t0016g0098a0001c0001t0016g0102a0001c0001t0020g0099others(92): Show | 98 | 344 | 0.2849 | -8 | c.361 others(23): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 3/11 | chr1 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167295768 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG01346.hp1 HG01891.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0007a0001c0001t0001g0023a0001c0001t0002g0010others(11): Show | 14 | 118 | 0.1186 | -8 | 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 | 167303644 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG01106.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0062a0001c0001t0001g0081a0001c0001t0001g0084others(14): Show | 17 | 118 | 0.1441 | -8 | c.-51 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167330244 | TATTTTAA others(1): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0010a0001c0001t0018others(2): Show | a0001c0001t0002g0094a0001c0001t0010g0092a0001c0001t0018g0093others(2): Show | 5 | 118 | 0.0424 | -8 | c.-51 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167332983 | CTGCTGGA others(1): Show |
C | intron_variant | MODIFIER | NA18612.hp1 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0108a0001c0001t0003g0112 | 2 | 118 | 0.0170 | -8 | c.-51 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167352272 | TTTTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG02683.hp1 HG02717.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0015a0001c0001t0001g0098a0001c0001t0002g0018others(9): Show | 12 | 118 | 0.1017 | -8 | c.-51 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167396532 | ATATGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02896.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0015others(2): Show | a0001c0001t0002g0094a0001c0001t0010g0092a0001c0001t0015g0079others(2): Show | 5 | 118 | 0.0424 | -8 | c.-51 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167396534 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG03579.hp1 NA18968.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0020 | a0001c0001t0002g0018a0001c0001t0004g0014a0001c0001t0020g0063 | 3 | 118 | 0.0254 | -8 | c.-51 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167408015 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG01496.hp2 HG02738.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0076a0001c0001t0001g0084a0001c0001t0003g0028others(5): Show | 8 | 118 | 0.0678 | -8 | c.-51 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167435433 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01346.hp2 HG01891.hp2 HG02257.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0007a0001c0001t0001g0023a0001c0001t0001g0032others(11): Show | 14 | 118 | 0.1186 | -8 | c.-51 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167435954 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG02922.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015a0001c0001t0021 | a0001c0001t0002g0070a0001c0001t0015g0069a0001c0001t0021g0035 | 3 | 118 | 0.0254 | -8 | c.-51 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167435975 | ACACACAC others(1): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG00741.hp2 HG01081.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0043a0001c0001t0002g0049a0001c0001t0002g0052others(16): Show | 19 | 118 | 0.1610 | -8 | c.-51 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167512548 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG00741.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0023a0001c0001t0001g0043a0001c0001t0001g0098others(32): Show | 35 | 118 | 0.2966 | -8 | c.-41 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167512616 | ATATACGT others(1): Show |
A | intron_variant | MODIFIER | HG03225.hp2 NA18612.hp2 NA18953.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0001g0015a0001c0001t0005g0012a0001c0001t0008g0095others(1): Show | 4 | 118 | 0.0339 | -8 | c.-41 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167601054 | CGTTTGTT others(1): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02647.hp1 HG02647.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0023a0001c0001t0002g0029a0001c0001t0002g0049others(7): Show | 10 | 118 | 0.0848 | -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 | 167625942 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG02896.hp1 HG03471.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0015a0001c0001t0034 | a0001c0001t0005g0051a0001c0001t0015g0079a0001c0001t0034g0103 | 3 | 118 | 0.0254 | -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 | 167651267 | TGTGTGCG others(1): Show |
T | intron_variant | MODIFIER | HG01169.hp2 HG01255.hp1 HG01255.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0002g0018a0001c0001t0002g0049a0001c0001t0002g0052others(16): Show | 19 | 118 | 0.1610 | -8 | 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 | 167740098 | CTAAATAA others(1): Show |
C | intron_variant | MODIFIER | HG06807.hp2 NA19030.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0028 | a0001c0001t0003g0002a0001c0001t0011g0050a0001c0001t0028g0056 | 3 | 118 | 0.0254 | -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 | 167852467 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG03098.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0044 | a0001c0001t0003g0002a0001c0003t0044g0115 | 2 | 118 | 0.0170 | -8 | c.-22 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167863990 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01346.hp1 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0047a0001c0001t0048 | a0001c0001t0014g0026a0001c0001t0047g0019a0001c0001t0048g0021 | 3 | 118 | 0.0254 | -8 | c.-22 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT5_chr21_39607940_39678137 | 39623201 | TCCTCCCT others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG01099.hp1 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(17): Show | a0001c0001t0001g0062a0001c0001t0001g0068a0001c0001t0001g0070others(22): 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 | 39639288 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG00673.hp2 HG03017.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0035others(1): Show | a0001c0001t0001g0173a0001c0001t0001g0238a0001c0001t0018g0148others(2): Show | 5 | 336 | 0.0149 | -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 | 39639398 | CTTTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG02602.hp2 NA21309.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0049a0002c0002t0102 | a0001c0001t0001g0083a0001c0001t0049g0310a0002c0002t0102g0017 | 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 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 NA18612.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0008a0002c0002t0003 | a0001c0001t0002g0285a0001c0001t0008g0079a0002c0002t0003g0020others(2): Show | 5 | 336 | 0.0149 | -8 | c.-39 others(27): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
B3GALT9_chr9_120788467_120806787 | 120794506 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01175.hp1 HG01515.hp1 others(13): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0007 | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(3): Show | a0001c0001t0001g0010a0001c0001t0008g0010a0001c0001t0012g0033others(3): Show | 16 | 404 | 0.0396 | -8 | c.-18 others(25): Show |
B3GALT9 | ENSG00000214654.9 | transcript | ENST00000689072.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
B3GAT1_chr11_134373508_134417242 | 134403979 | TTCTTTAT others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp2 HG02622.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0193a0001c0001t0003g0192a0001c0001t0003g0195others(1): Show | 4 | 352 | 0.0114 | -8 | c.-28 others(27): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
B3GAT1_chr11_134373508_134417242 | 134403983 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01109.hp2 HG02027.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103others(13): Show | 16 | 352 | 0.0455 | -8 | c.-28 others(27): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70891748 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01099.hp2 HG01261.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0013a0001c0001t0019others(5): Show | a0001c0001t0010g0051a0001c0001t0010g0071a0001c0001t0010g0084others(9): Show | 12 | 316 | 0.0380 | -8 | c.736 others(25): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 2/3 | chr6 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70959038 | CTGTGTGT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02809.hp1 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0059 | a0001c0001t0004g0163a0001c0001t0004g0164a0001c0001t0059g0162 | 3 | 316 | 0.0095 | -8 | c.-26 others(19): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1979 | chr6 | TogoVar | ||||||
B3GAT3_chr11_62610296_62626986 | 62619699 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG00639.hp2 others(55): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0014others(13): Show | 58 | 290 | 0.2000 | -8 | c.257 others(23): Show |
B3GAT3 | ENSG00000149541.10 | transcript | ENST00000265471.10 | protein_coding | 2/4 | chr11 | TogoVar | ||||||
B3GNT6_chr11_77029398_77046973 | 77032640 | CATATATA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00673.hp1 HG01168.hp2 others(25): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0002g0026others(9): Show | 28 | 442 | 0.0634 | -8 | c.-18 others(19): Show |
B3GNT6 | ENSG00000198488.10 | transcript | ENST00000622824.1 | protein_coding | 1757 | chr11 | TogoVar | ||||||
B4GALNT2_chr17_49127769_49181840 | 49133930 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01167.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(8): Show | a0001c0001t0001g0236a0001c0001t0002g0009a0001c0001t0002g0158others(11): Show | 16 | 380 | 0.0421 | -8 | c.14+ others(23): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
B4GALNT2_chr17_49127769_49181840 | 49136518 | GTTTATTT others(1): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01167.hp2 others(15): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0005a0001c0011others(3): Show | a0001c0001t0002a0001c0001t0013a0001c0005t0008others(5): Show | a0001c0001t0002g0009a0001c0001t0002g0166a0001c0001t0002g0167others(13): Show | 18 | 380 | 0.0474 | -8 | c.14+ others(23): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 471384 | CAATAAAT others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG02080.hp1 HG02083.hp2 others(11): Show |
a0001a0005a0007others(1): Show | a0001c0001a0001c0002a0001c0016others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(9): Show | a0001c0001t0001g0242a0001c0001t0001g0243a0001c0001t0004g0236others(11): Show | 14 | 394 | 0.0355 | -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 | 552292 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp2 HG01361.hp2 others(58): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0010a0001c0039others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0008a0001c0001t0001g0034a0001c0001t0001g0096others(58): Show | 61 | 394 | 0.1548 | -8 | c.120 others(25): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 374887 | GGAGGAGG others(1): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp1 HG03927.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0064a0001c0001t0001g0175a0003c0006t0001g0178 | 3 | 184 | 0.0163 | -8 | c.784 others(23): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 375008 | GGAGGAGG others(1): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG03669.hp2 NA18947.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0068a0001c0001t0001g0175a0003c0006t0001g0088 | 3 | 184 | 0.0163 | -8 | c.784 others(23): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | chr11 | TogoVar | ||||||
B4GALT3_chr1_161166310_161182507 | 161179281 | TTTCCTTC others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00609.hp2 HG01168.hp1 HG02135.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004 | 9 | 374 | 0.0241 | -8 | c.-20 others(19): Show |
B4GALT3 | ENSG00000158850.15 | transcript | ENST00000319769.10 | protein_coding | 1775 | chr1 | TogoVar | ||||||
B4GALT4_chr3_119206742_119245878 | 119208801 | TCACACAC others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(116): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0005a0001c0001t0002g0006a0001c0001t0002g0013others(68): Show | 119 | 436 | 0.2729 | -8 | c.*37 others(19): Show |
B4GALT4 | ENSG00000121578.13 | transcript | ENST00000393765.7 | protein_coding | 2940 | chr3 | TogoVar | ||||||
B4GALT4_chr3_119206742_119245878 | 119216437 | CACGCACA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(287): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0010others(148): Show | 290 | 436 | 0.6651 | -8 | c.798 others(22): Show |
B4GALT4 | ENSG00000121578.13 | transcript | ENST00000393765.7 | protein_coding | 6/7 | chr3 | TogoVar | ||||||
B4GALT4_chr3_119206742_119245878 | 119216445 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02809.hp2 HG03516.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0097 | 4 | 436 | 0.0092 | -8 | c.798 others(23): Show |
B4GALT4 | ENSG00000121578.13 | transcript | ENST00000393765.7 | protein_coding | 6/7 | chr3 | TogoVar | ||||||
B4GALT5_chr20_49627945_49718878 | 49664421 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG01192.hp2 HG01261.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0005a0002c0004t0014 | a0001c0001t0002g0043a0001c0001t0002g0050a0002c0004t0005g0220others(11): Show | 14 | 364 | 0.0385 | -8 | c.116 others(25): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | ||||||
B4GALT5_chr20_49627945_49718878 | 49701455 | TTTCTGAT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(51): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0020a0001c0001t0025others(5): Show | a0001c0001t0002g0025a0001c0001t0002g0026a0001c0001t0002g0027others(51): Show | 54 | 364 | 0.1484 | -8 | c.115 others(27): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | ||||||
B4GALT6_chr18_31617246_31689581 | 31629447 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02615.hp2 HG02630.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0011others(2): Show | a0001c0001t0007g0208a0001c0001t0007g0217a0001c0001t0008g0186others(7): Show | 10 | 306 | 0.0327 | -8 | c.776 others(25): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 6/8 | chr18 | TogoVar | ||||||
BAALC_chr8_103135725_103235305 | 103140445 | CGGATGGA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01123.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0228a0001c0001t0001g0230a0001c0001t0001g0271others(34): Show | 45 | 332 | 0.1355 | -8 | c.-45 others(17): Show |
BAALC | ENSG00000164929.17 | transcript | ENST00000309982.10 | protein_coding | 279 | chr8 | TogoVar |