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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
B3GAT1_chr11_134373508_134417242 | 134411670 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02922.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0028 a0001c0001t0001g0213 a0001c0001t0012g0245 |
4 | 58 | 0.0690 | 8 | c.-28 others(25): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
B3GAT2_chr6_70851679_70962060 | 70879480 | G | GATTCATT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG01934.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0001t0012a0001c0001t0023others(6): Show | a0001c0001t0002g0070 a0001c0001t0012g0031 a0001c0001t0023g0077 others(7): Show |
10 | 247 | 0.0405 | 8 | c.736 others(27): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 2/3 | chr6 | TogoVar | |||||||
B3GAT2_chr6_70851679_70962060 | 70891748 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG02109.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(4): Show | a0001c0001t0001g0170 a0001c0001t0002g0066 a0001c0001t0002g0070 others(7): Show |
10 | 197 | 0.0508 | 8 | c.736 others(25): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 2/3 | chr6 | TogoVar | |||||||
B3GAT2_chr6_70851679_70962060 | 70902617 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01074.hp1 HG01168.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0012a0001c0001t0017others(6): Show | a0001c0001t0003g0169 a0001c0001t0012g0031 a0001c0001t0017g0008 others(11): Show |
14 | 120 | 0.1167 | 8 | c.592 others(25): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
B3GAT2_chr6_70851679_70962060 | 70902631 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02559.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0036a0001c0001t0045 | a0001c0001t0036g0105 a0001c0001t0036g0142 a0001c0001t0045g0004 |
3 | 313 | 0.0096 | 8 | c.592 others(25): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31253618 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00558.hp2 others(85): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0010others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0057 others(83): Show |
88 | 223 | 0.3946 | 8 | c.459 others(25): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31308356 | A | AACAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00621.hp1 others(63): Show |
a0002a0005 | a0002c0002a0002c0003a0002c0008others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(11): Show | a0002c0002t0001g0250 a0002c0002t0002g0018 a0002c0002t0002g0066 others(62): Show |
66 | 260 | 0.2538 | 8 | c.106 others(27): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
B3GNT3_chr19_17790138_17818576 | 17791966 | C | CTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00733.hp2 others(39): Show |
a0001a0007 | a0001c0001a0001c0003a0007c0012 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0016 others(31): Show |
42 | 216 | 0.1944 | 8 | c.-32 others(19): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 3171 | chr19 | TogoVar | |||||||
B3GNT3_chr19_17790138_17818576 | 17804533 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00741.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0017 a0001c0001t0002g0130 a0001c0001t0002g0207 others(21): Show |
27 | 28 | 0.9643 | 8 | c.-50 others(25): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
B3GNT3_chr19_17790138_17818576 | 17817795 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01175.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0273 a0001c0001t0003g0008 a0001c0001t0003g0144 others(5): Show |
8 | 66 | 0.1212 | 8 | c.*56 others(19): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 4220 | chr19 | TogoVar | |||||||
B3GNT5_chr3_183248253_183278385 | 183257958 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02071.hp2 HG02602.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0043 a0001c0001t0001g0193 a0001c0001t0001g0195 others(4): Show |
8 | 19 | 0.4211 | 8 | c.-30 others(27): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
B3GNT6_chr11_77029398_77046973 | 77031780 | C | CTTATTTA others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00673.hp1 HG01167.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0034 others(13): Show |
30 | 142 | 0.2113 | 8 | c.-26 others(19): Show |
B3GNT6 | ENSG00000198488.10 | transcript | ENST00000622824.1 | protein_coding | 2617 | chr11 | TogoVar | |||||||
B3GNT8_chr19_41420359_41432374 | 41429825 | G | GTTTCTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(233): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0032 others(20): Show |
236 | 410 | 0.5756 | 8 | c.-25 others(19): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 2452 | chr19 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83002879 | G | GCCCGCCC others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01361.hp1 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0001t0022a0001c0001t0032others(13): Show | a0001c0001t0002g0059 a0001c0001t0022g0243 a0001c0001t0032g0164 others(19): Show |
22 | 260 | 0.0846 | 8 | c.459 others(25): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83003180 | G | GCCCGCCC others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01934.hp1 HG02080.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0002a0001c0001t0017a0001c0001t0019others(9): Show | a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0017g0176 others(11): Show |
14 | 265 | 0.0528 | 8 | c.459 others(25): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B4GALNT2_chr17_49127769_49181840 | 49176473 | C | CAGCAGGA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00741.hp2 others(44): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0006others(3): Show | a0001c0001t0010a0001c0001t0056a0001c0001t0057others(9): Show | a0001c0001t0010g0013 a0001c0001t0010g0230 a0001c0001t0010g0243 others(40): Show |
47 | 378 | 0.1243 | 8 | c.*67 others(19): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 11/11 | 6746 | chr17 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 471384 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01496.hp2 others(17): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(14): Show | a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0004g0214 others(17): Show |
20 | 175 | 0.1143 | 8 | c.169 others(27): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 471720 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02109.hp1 HG02109.hp2 others(8): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0013others(6): Show | a0001c0001t0002a0001c0001t0020a0001c0002t0013others(8): Show | a0001c0001t0002g0126 a0001c0001t0020g0130 a0001c0002t0013g0175 others(8): Show |
11 | 57 | 0.1930 | 8 | c.169 others(27): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 499515 | A | AGAACACT others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG01106.hp2 others(80): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0010others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0014 a0001c0001t0001g0116 a0001c0001t0001g0223 others(80): Show |
83 | 392 | 0.2117 | 8 | c.170 others(27): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 500865 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00738.hp2 others(83): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0013others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0014 a0001c0001t0001g0034 a0001c0001t0001g0223 others(83): Show |
86 | 106 | 0.8113 | 8 | c.170 others(27): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 525086 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02071.hp1 HG02109.hp2 others(15): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0048a0003c0004others(3): Show | a0001c0001t0001a0001c0001t0022a0001c0001t0031others(12): Show | a0001c0001t0001g0069 a0001c0001t0001g0194 a0001c0001t0022g0036 others(15): Show |
18 | 265 | 0.0679 | 8 | c.170 others(27): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 525086 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02258.hp2 HG02717.hp1 others(1): Show |
a0001a0003a0007 | a0001c0001a0003c0004a0007c0008 | a0001c0001t0016a0003c0004t0029a0007c0008t0002others(1): Show | a0001c0001t0016g0179 a0003c0004t0029g0300 a0007c0008t0002g0004 others(1): Show |
4 | 251 | 0.0159 | 8 | c.170 others(27): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 374804 | G | GGAGGAGG others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02132.hp2 HG02683.hp2 others(2): Show |
a0001a0002a0026 | a0001c0001a0001c0026a0002c0004others(2): Show | a0001c0001t0001a0001c0026t0002a0002c0004t0001others(2): Show | a0001c0001t0001g0105 a0001c0026t0002g0049 a0002c0004t0001g0176 others(2): Show |
5 | 175 | 0.0286 | 8 | c.784 others(23): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | chr11 | TogoVar | |||||||
B4GALNT4_chr11_364499_387117 | 374880 | G | GAGGGAGG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01070.hp2 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0134 a0001c0003t0001g0136 a0002c0002t0001g0060 others(11): Show |
14 | 122 | 0.1148 | 8 | c.784 others(23): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33135890 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01123.hp2 HG01192.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016a0001c0001t0018 | a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0163 others(4): Show |
7 | 337 | 0.0208 | 8 | c.413 others(23): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33135905 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG01934.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0048 a0001c0001t0001g0059 others(14): Show |
19 | 360 | 0.0528 | 8 | c.413 others(23): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33135911 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG01123.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0065 others(16): Show |
19 | 119 | 0.1597 | 8 | c.413 others(23): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33150233 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01358.hp1 HG01928.hp1 others(12): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0026others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0090 a0001c0001t0001g0095 others(11): Show |
15 | 30 | 0.5000 | 8 | c.413 others(27): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33157063 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01884.hp2 HG02257.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0003g0317 a0001c0001t0005g0328 a0001c0001t0005g0329 others(9): Show |
13 | 43 | 0.3023 | 8 | c.412 others(25): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33157121 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00544.hp2 others(52): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0200 a0001c0001t0002g0012 a0001c0001t0002g0194 others(50): Show |
55 | 76 | 0.7237 | 8 | c.412 others(25): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
B4GALT2_chr1_43974210_43996168 | 43994422 | G | GTTTCTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02280.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0001 a0001c0001t0001g0133 a0001c0001t0005g0019 others(4): Show |
12 | 103 | 0.1165 | 8 | c.*39 others(19): Show |
B4GALT2 | ENSG00000117411.18 | transcript | ENST00000372324.6 | protein_coding | 3255 | chr1 | TogoVar | |||||||
B4GALT3_chr1_161166310_161182507 | 161179281 | T | TTTCCTTC others(1): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG01106.hp2 HG01928.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(1): Show |
14 | 102 | 0.1373 | 8 | c.-20 others(19): Show |
B4GALT3 | ENSG00000158850.15 | transcript | ENST00000319769.10 | protein_coding | 1775 | chr1 | TogoVar | |||||||
B4GALT5_chr20_49627945_49718878 | 49633439 | G | GTTTTTTT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(55): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0020a0001c0001t0021others(7): Show | a0001c0001t0002g0001 a0001c0001t0002g0027 a0001c0001t0002g0028 others(54): Show |
58 | 253 | 0.2292 | 8 | c.*28 others(19): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 9/9 | 2872 | chr20 | TogoVar | ||||||
B4GALT5_chr20_49627945_49718878 | 49636907 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02451.hp2 HG02615.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0006a0001c0001t0008a0001c0001t0033others(1): Show | a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0001t0006g0175 others(9): Show |
12 | 136 | 0.0882 | 8 | c.101 others(25): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 8/8 | chr20 | TogoVar | |||||||
B4GALT5_chr20_49627945_49718878 | 49664421 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00741.hp2 HG01192.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0006a0001c0001t0021a0001c0002t0001others(3): Show | a0001c0001t0006g0173 a0001c0001t0021g0183 a0001c0002t0001g0205 others(7): Show |
10 | 91 | 0.1099 | 8 | c.116 others(25): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
B4GALT6_chr18_31617246_31689581 | 31618750 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG01169.hp2 HG01496.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0254 a0001c0001t0002g0258 a0001c0001t0004g0011 others(2): Show |
6 | 117 | 0.0513 | 8 | c.*68 others(19): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 3495 | chr18 | TogoVar | |||||||
B4GAT1_chr11_66340374_66352629 | 66342056 | C | CTGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG01192.hp2 HG01243.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0003g0005 a0001c0001t0005g0011 |
8 | 197 | 0.0406 | 8 | c.*39 others(19): Show |
B4GAT1 | ENSG00000174684.7 | transcript | ENST00000311181.5 | protein_coding | 3317 | chr11 | TogoVar | |||||||
BABAM1_chr19_17262443_17284337 | 17273564 | G | GTTTTGTT others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02055.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0049 a0001c0001t0001g0104 others(4): Show |
14 | 313 | 0.0447 | 8 | c.345 others(23): Show |
BABAM1 | ENSG00000105393.16 | transcript | ENST00000598188.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BABAM1_chr19_17262443_17284337 | 17273564 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00642.hp1 HG01981.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(10): Show |
16 | 315 | 0.0508 | 8 | c.345 others(23): Show |
BABAM1 | ENSG00000105393.16 | transcript | ENST00000598188.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 27942791 | A | AATTTATT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG00738.hp1 others(75): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(75): Show |
78 | 86 | 0.9070 | 8 | c.205 others(27): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 27982844 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0002g0005 others(2): Show |
5 | 46 | 0.1087 | 8 | c.206 others(25): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 27983942 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01167.hp1 HG01934.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 a0001c0001t0002g0047 a0001c0001t0002g0048 others(3): Show |
6 | 9 | 0.6667 | 8 | c.206 others(25): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 27985057 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01346.hp1 HG01433.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0017 others(7): Show |
10 | 21 | 0.4762 | 8 | c.206 others(25): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28013694 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG01069.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0032 a0001c0001t0001g0125 a0001c0001t0001g0153 others(10): Show |
13 | 45 | 0.2889 | 8 | c.301 others(27): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28020952 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02155.hp2 HG02451.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0023 a0001c0001t0001g0058 a0001c0001t0001g0099 others(8): Show |
11 | 37 | 0.2973 | 8 | c.301 others(25): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28026867 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02723.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 |
3 | 156 | 0.0192 | 8 | c.495 others(25): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28112083 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG01167.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0041 others(15): Show |
18 | 95 | 0.1895 | 8 | c.571 others(27): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28176569 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02280.hp2 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0075 a0001c0001t0001g0088 a0001c0001t0002g0065 others(3): Show |
6 | 10 | 0.6000 | 8 | c.680 others(27): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28183739 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02165.hp1 HG02486.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0046 a0001c0001t0001g0113 a0001c0001t0001g0123 others(8): Show |
11 | 14 | 0.7857 | 8 | c.681 others(27): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28183739 | T | TCTCACAC others(1): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02630.hp1 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(3): Show |
6 | 9 | 0.6667 | 8 | c.681 others(27): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |