view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
B3GAT2_chr6_70851679_70962060 | 70891748 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0095 | 1 | 188 | 0.0053 | 12 | c.736 others(29): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 2/3 | chr6 | TogoVar | |||||||
B3GAT2_chr6_70851679_70962060 | 70902633 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0082 | 1 | 301 | 0.0033 | 12 | c.592 others(29): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
B3GAT3_chr11_62610296_62626986 | 62618243 | G | GGTTTGAA others(5): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 288 | 0.0035 | 12 | c.258 others(27): Show |
B3GAT3 | ENSG00000149541.10 | transcript | ENST00000265471.10 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(5): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0174 | 1 | 39 | 0.0256 | 12 | c.-38 others(23): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31213616 | A | ACCCCCCC others(5): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 234 | 0.0043 | 12 | c.71- others(27): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31213616 | A | ACCCCCCC others(5): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0126 | 1 | 234 | 0.0043 | 12 | c.71- others(27): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31308334 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01071.hp2 others(23): Show |
a0001a0004a0007 | a0001c0001a0004c0004a0007c0012 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0214 others(23): Show |
26 | 266 | 0.0977 | 12 | c.106 others(31): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31308362 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG00738.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0013a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0077 a0001c0001t0001g0123 others(9): Show |
12 | 61 | 0.1967 | 12 | c.106 others(31): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31308362 | A | AAACAAAA others(5): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0264 | 1 | 50 | 0.0200 | 12 | c.106 others(31): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31316407 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0003 | a0002c0003t0021 | a0002c0003t0021g0070 | 1 | 58 | 0.0172 | 12 | c.106 others(31): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31316407 | T | TTTTATAT others(5): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01516.hp1 HG02080.hp1 others(12): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0008 | a0002c0002t0002g0018 a0002c0002t0002g0118 a0002c0002t0002g0136 others(12): Show |
15 | 72 | 0.2083 | 12 | c.106 others(31): 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(5): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01192.hp2 HG02055.hp1 others(3): Show |
a0001a0003a0008 | a0001c0001a0003c0004a0008c0010 | a0001c0001t0006a0001c0001t0009a0003c0004t0011others(1): Show | a0001c0001t0006g0007 a0001c0001t0006g0152 a0001c0001t0009g0034 others(3): Show |
6 | 180 | 0.0333 | 12 | c.-32 others(23): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 3171 | chr19 | TogoVar | |||||||
B3GNT3_chr19_17790138_17818576 | 17807111 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01167.hp1 HG01928.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0274 a0001c0001t0003g0033 a0001c0001t0005g0240 others(11): Show |
15 | 104 | 0.1442 | 12 | c.-50 others(27): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
B3GNT5_chr3_183248253_183278385 | 183257958 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01257.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 a0001c0001t0001g0218 a0001c0001t0001g0228 |
3 | 14 | 0.2143 | 12 | c.-30 others(31): 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(5): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0003 | a0002c0003t0010 | a0002c0003t0010g0019 | 1 | 113 | 0.0088 | 12 | c.-26 others(23): Show |
B3GNT6 | ENSG00000198488.10 | transcript | ENST00000622824.1 | protein_coding | 2617 | chr11 | TogoVar | |||||||
B3GNT8_chr19_41420359_41432374 | 41425549 | A | AGGCCAGG others(5): Show |
3_prime_UTR_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0026 | 1 | 176 | 0.0057 | 12 | c.*35 others(19): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 2/2 | 35 | chr19 | TogoVar | ||||||
B3GNT8_chr19_41420359_41432374 | 41425549 | A | AGGCCAGG others(5): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(239): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0032 others(19): Show |
242 | 417 | 0.5803 | 12 | c.*35 others(19): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 2/2 | 35 | chr19 | TogoVar | ||||||
B3GNT8_chr19_41420359_41432374 | 41425551 | G | GCCAGGGC others(5): Show |
3_prime_UTR_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0024 | 1 | 417 | 0.0024 | 12 | c.*33 others(19): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 2/2 | 33 | chr19 | TogoVar | ||||||
B3GNT8_chr19_41420359_41432374 | 41427477 | A | AGGAGAGA others(5): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 NA19030.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0017 | 2 | 418 | 0.0048 | 12 | c.-23 others(21): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 104 | chr19 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82940219 | G | GCACACAC others(5): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG01361.hp2 HG02015.hp2 others(9): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0002others(3): Show | a0001c0001t0002g0065 a0001c0001t0002g0155 a0001c0001t0002g0162 others(9): Show |
12 | 120 | 0.1000 | 12 | c.*38 others(23): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 1929 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82940221 | G | GCACACAC others(5): Show |
downstream_gene_variant | MODIFIER | HG02080.hp1 HG03669.hp2 NA18983.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0022others(1): Show | a0001c0001t0002g0159 a0001c0001t0004g0241 a0001c0001t0022g0233 others(1): Show |
4 | 65 | 0.0615 | 12 | c.*38 others(23): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 1927 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82946569 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00558.hp2 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0017a0001c0001t0032a0001c0002t0016others(10): Show | a0001c0001t0017g0176 a0001c0001t0032g0164 a0001c0002t0016g0135 others(36): Show |
40 | 114 | 0.3509 | 12 | c.*24 others(27): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 12/12 | chr17 | TogoVar | |||||||
B4GALNT1_chr12_57618409_57638201 | 57634082 | A | ACCCCCCC others(5): Show |
upstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 104 | 0.0096 | 12 | c.-13 others(23): Show |
B4GALNT1 | ENSG00000135454.14 | transcript | ENST00000341156.9 | protein_coding | 882 | chr12 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 456435 | C | CAGATATA others(5): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 HG03491.hp1 HG03492.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0010a0003c0004 | a0001c0001t0084a0001c0010t0002a0003c0004t0005 | a0001c0001t0084g0162 a0001c0010t0002g0256 a0003c0004t0005g0172 others(1): Show |
4 | 47 | 0.0851 | 12 | c.-39 others(23): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 3503 | chr12 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 474947 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02717.hp2 HG03540.hp1 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0044a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0055a0001c0044t0001others(6): Show | a0001c0001t0001g0223 a0001c0001t0055g0181 a0001c0044t0001g0383 others(6): Show |
9 | 139 | 0.0647 | 12 | c.169 others(31): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 500865 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00621.hp2 others(20): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0010others(9): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(18): Show | a0001c0001t0001g0089 a0001c0001t0001g0110 a0001c0001t0001g0112 others(20): Show |
23 | 43 | 0.5349 | 12 | c.170 others(31): 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(5): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00621.hp2 others(59): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0041others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0008 a0001c0001t0001g0116 a0001c0001t0001g0164 others(59): Show |
62 | 309 | 0.2006 | 12 | c.170 others(31): 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(5): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0003 | a0003c0004 | a0003c0004t0080 | a0003c0004t0080g0201 | 1 | 248 | 0.0040 | 12 | c.170 others(31): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 552292 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG03486.hp2 HG03516.hp1 |
a0007 | a0007c0008 | a0007c0008t0002a0007c0008t0017 | a0007c0008t0002g0004 a0007c0008t0017g0147 |
2 | 72 | 0.0278 | 12 | c.120 others(29): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 369061 | G | GCCCCCAT others(5): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(176): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0003a0001c0005others(40): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(171): Show |
179 | 180 | 0.9944 | 12 | c.-74 others(21): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 437 | chr11 | TogoVar | |||||||
B4GALNT4_chr11_364499_387117 | 371617 | C | CTCAAATC others(5): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0009 | a0009c0012 | a0009c0012t0003 | a0009c0012t0003g0023 | 1 | 182 | 0.0055 | 12 | c.152 others(27): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 373310 | T | TGGTGTCG others(5): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0011 | a0011c0022 | a0011c0022t0001 | a0011c0022t0001g0126 | 1 | 182 | 0.0055 | 12 | c.636 others(25): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 374757 | A | AGGAGGAA others(5): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0004 | a0004c0043 | a0004c0043t0001 | a0004c0043t0001g0028 | 1 | 181 | 0.0055 | 12 | c.784 others(27): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 374851 | A | AGGAGGAA others(5): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02148.hp2 |
a0002a0003 | a0002c0002a0003c0006 | a0002c0002t0006a0003c0006t0001 | a0002c0002t0006g0076 a0003c0006t0001g0154 |
2 | 163 | 0.0123 | 12 | c.784 others(27): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 374870 | A | AGGAGGAA others(5): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0103 | 1 | 175 | 0.0057 | 12 | c.784 others(27): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 374933 | G | GAGGGGAG others(5): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0022 | a0022c0015 | a0022c0015t0001 | a0022c0015t0001g0040 | 1 | 144 | 0.0069 | 12 | c.784 others(27): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 374952 | G | GGAGGGAG others(5): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0022 | a0022c0015 | a0022c0015t0001 | a0022c0015t0001g0040 | 1 | 126 | 0.0079 | 12 | c.784 others(27): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | chr11 | TogoVar | |||||||
B4GALNT4_chr11_364499_387117 | 375010 | A | AGGAGGAA others(5): Show |
intron_variant | MODIFIER | HG01433.hp1 HG03225.hp2 |
a0003a0008 | a0003c0039a0008c0013 | a0003c0039t0001a0008c0013t0001 | a0003c0039t0001g0058 a0008c0013t0001g0057 |
2 | 176 | 0.0114 | 12 | c.784 others(27): 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(5): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0157 | 1 | 331 | 0.0030 | 12 | c.413 others(27): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33135905 | G | GTGTGTGT others(5): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 342 | 0.0029 | 12 | 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(5): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01106.hp2 HG01175.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0171 a0001c0001t0002g0212 a0001c0001t0002g0222 others(22): Show |
25 | 55 | 0.4545 | 12 | c.412 others(29): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33157121 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01070.hp1 HG01070.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0171 a0001c0001t0002g0282 a0001c0001t0003g0317 others(4): Show |
8 | 29 | 0.2759 | 12 | c.412 others(29): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
B4GALT2_chr1_43974210_43996168 | 43979173 | C | CCGCGGGG others(5): Show |
upstream_gene_variant | MODIFIER | NA18973.hp2 NA18992.hp2 NA19009.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 a0001c0001t0002g0092 |
4 | 404 | 0.0099 | 12 | c.-39 others(21): Show |
B4GALT2 | ENSG00000117411.18 | transcript | ENST00000372324.6 | protein_coding | 36 | chr1 | TogoVar | |||||||
B4GALT2_chr1_43974210_43996168 | 43991785 | G | GTGTGTTT others(5): Show |
downstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 404 | 0.0025 | 12 | c.*13 others(23): Show |
B4GALT2 | ENSG00000117411.18 | transcript | ENST00000372324.6 | protein_coding | 618 | chr1 | TogoVar | |||||||
B4GALT2_chr1_43974210_43996168 | 43994422 | G | GTTTCTTT others(5): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG01074.hp1 others(37): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0061 a0001c0001t0001g0132 others(14): Show |
40 | 131 | 0.3053 | 12 | c.*39 others(23): Show |
B4GALT2 | ENSG00000117411.18 | transcript | ENST00000372324.6 | protein_coding | 3255 | chr1 | TogoVar | |||||||
B4GALT5_chr20_49627945_49718878 | 49636907 | G | GACACACA others(5): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00621.hp2 others(24): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0001c0002t0010a0001c0002t0013others(4): Show | a0001c0002t0001g0254 a0001c0002t0001g0292 a0001c0002t0001g0295 others(24): Show |
27 | 151 | 0.1788 | 12 | c.101 others(29): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 8/8 | chr20 | TogoVar | |||||||
B4GALT5_chr20_49627945_49718878 | 49643922 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | NA19072.hp2 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0218 | 1 | 53 | 0.0189 | 12 | c.365 others(27): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 3/8 | chr20 | TogoVar | |||||||
B4GALT5_chr20_49627945_49718878 | 49663675 | G | GAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0094 | 1 | 354 | 0.0028 | 12 | c.116 others(29): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
B4GALT5_chr20_49627945_49718878 | 49664421 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0253 | 1 | 82 | 0.0122 | 12 | c.116 others(29): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
B4GALT5_chr20_49627945_49718878 | 49694658 | A | AGGAAAGG others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp1 others(80): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(14): Show | a0001c0001t0002g0001 a0001c0001t0002g0028 a0001c0001t0002g0029 others(80): Show |
83 | 165 | 0.5030 | 12 | c.115 others(31): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar |