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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
B4GALNT3_chr12_454939_568509 | 552292 | T | TACAC | intron_variant | MODIFIER | HG00597.hp2 HG01109.hp2 HG01168.hp1 others(6): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0031others(5): Show | a0001c0001t0001g0242a0001c0001t0011g0218a0001c0001t0031g0314others(6): Show | 9 | 394 | 0.0228 | 4 | c.120 others(21): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 374763 | A | AAGGG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00735.hp2 others(11): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0040a0001c0001t0001g0175a0001c0003t0001g0105others(11): Show | 14 | 184 | 0.0761 | 4 | c.784 others(19): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 374778 | A | AAGGG | intron_variant | MODIFIER | HG00140.hp2 HG01074.hp2 HG01243.hp1 others(9): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0023others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(6): Show | a0001c0001t0001g0063a0001c0001t0001g0080a0001c0001t0001g0095others(9): Show | 12 | 184 | 0.0652 | 4 | c.784 others(19): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 374793 | A | AAGGG | intron_variant | MODIFIER | HG01255.hp1 HG01346.hp2 HG01891.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0002others(5): Show | a0001c0001t0001g0040a0001c0001t0001g0107a0001c0001t0004g0013others(10): Show | 13 | 184 | 0.0707 | 4 | c.784 others(19): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 374808 | A | AAGGG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00544.hp1 others(14): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(5): Show | a0001c0001t0001g0175a0001c0001t0005g0164a0001c0001t0005g0165others(14): Show | 17 | 184 | 0.0924 | 4 | c.784 others(19): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 374823 | A | AAGGG | intron_variant | MODIFIER | HG01258.hp1 HG01891.hp1 HG01978.hp2 others(3): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(3): Show | a0001c0001t0001g0063a0001c0001t0004g0013a0001c0003t0001g0176others(3): Show | 6 | 184 | 0.0326 | 4 | c.784 others(19): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 374914 | A | AAGGG | intron_variant | MODIFIER | HG00733.hp2 HG01081.hp2 HG01106.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0001c0001t0002a0002c0007t0001 | a0001c0001t0001g0002a0001c0001t0001g0035a0001c0001t0001g0070others(2): Show | 6 | 184 | 0.0326 | 4 | c.784 others(19): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 374967 | A | AAGGG | intron_variant | MODIFIER | HG00140.hp2 HG01081.hp1 HG01358.hp2 others(8): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(2): Show | a0001c0001t0001g0032a0001c0001t0001g0061a0001c0001t0001g0064others(8): Show | 11 | 184 | 0.0598 | 4 | c.784 others(19): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 374982 | A | AAGGG | intron_variant | MODIFIER | HG00733.hp2 HG01081.hp2 HG01106.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0002g0100a0002c0002t0001g0004others(1): Show | 5 | 184 | 0.0272 | 4 | c.784 others(19): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 375035 | A | AAGGG | intron_variant | MODIFIER | HG01081.hp1 HG02132.hp1 HG03098.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0064a0001c0001t0001g0074a0001c0001t0001g0104others(5): Show | 8 | 184 | 0.0435 | 4 | c.784 others(19): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 375050 | A | AAGGG | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01243.hp1 others(3): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0005a0001c0003t0001a0002c0002t0001others(2): Show | a0001c0001t0005g0164a0001c0003t0001g0176a0002c0002t0001g0149others(3): Show | 6 | 184 | 0.0326 | 4 | c.784 others(19): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 375065 | A | AAGGG | intron_variant | MODIFIER | HG00642.hp2 HG02074.hp2 HG02559.hp1 |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0001a0004c0012t0002 | a0001c0001t0001g0087a0001c0001t0001g0159a0004c0012t0002g0022 | 3 | 184 | 0.0163 | 4 | c.784 others(19): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 375080 | A | AAGGG | intron_variant | MODIFIER | HG02132.hp1 HG02132.hp2 NA19057.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0007t0001others(1): Show | a0001c0001t0001g0074a0002c0002t0001g0133a0002c0002t0001g0148others(2): Show | 5 | 184 | 0.0272 | 4 | c.784 others(19): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 375095 | A | AAGGG | intron_variant | MODIFIER | HG03486.hp2 NA19005.hp1 |
a0001a0018 | a0001c0001a0018c0026 | a0001c0001t0001a0018c0026t0004 | a0001c0001t0001g0060a0018c0026t0004g0042 | 2 | 184 | 0.0109 | 4 | c.784 others(19): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 375110 | A | AAGGG | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp1 HG01243.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0005t0002a0002c0002t0003others(3): Show | a0001c0001t0001g0175a0001c0005t0002g0101a0002c0002t0003g0140others(3): Show | 6 | 184 | 0.0326 | 4 | c.784 others(19): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 375125 | A | AAGGG | intron_variant | MODIFIER | HG00544.hp2 HG01069.hp2 HG02040.hp2 others(8): Show |
a0001a0002a0009others(1): Show | a0001c0001a0002c0002a0002c0007others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0007t0001others(3): Show | a0001c0001t0001g0029a0001c0001t0001g0074a0001c0001t0001g0075others(8): Show | 11 | 184 | 0.0598 | 4 | c.784 others(19): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 375140 | A | AAGGG | intron_variant | MODIFIER | HG01433.hp1 HG03225.hp2 HG03688.hp1 others(2): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0060a0001c0003t0001g0073a0002c0004t0001g0113others(2): Show | 5 | 184 | 0.0272 | 4 | c.784 others(19): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 375155 | A | AAGGG | intron_variant | MODIFIER | HG01361.hp2 HG02683.hp1 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0006 | a0002c0002t0003g0140a0002c0002t0006g0153 | 2 | 184 | 0.0109 | 4 | c.784 others(19): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALT1_chr9_33105642_33172336 | 33105880 | G | GTTTT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(63): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0032others(62): Show | 66 | 366 | 0.1803 | 4 | c.*75 others(15): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 4761 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33135890 | A | AGAGT | intron_variant | MODIFIER | HG01106.hp2 HG02572.hp2 HG02735.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0015others(2): Show | a0001c0001t0002g0269a0001c0001t0002g0288a0001c0001t0012g0332others(6): Show | 9 | 366 | 0.0246 | 4 | c.413 others(19): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33135911 | A | ATGTG | intron_variant | MODIFIER | HG01891.hp1 HG02818.hp2 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0050 | a0001c0001t0001g0091a0001c0001t0001g0092a0001c0001t0001g0093others(1): Show | 4 | 366 | 0.0109 | 4 | c.413 others(19): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33148804 | T | TAAAA | intron_variant | MODIFIER | HG01106.hp2 HG01496.hp2 HG02293.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(6): Show | a0001c0001t0002g0257a0001c0001t0004g0302a0001c0001t0012g0335others(8): Show | 11 | 366 | 0.0301 | 4 | c.413 others(23): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33150233 | T | TACAC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(84): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(81): Show | 87 | 366 | 0.2377 | 4 | c.413 others(23): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33154031 | A | AAGGG | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00673.hp1 others(25): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0002g0192a0001c0001t0002g0210a0001c0001t0002g0212others(25): Show | 28 | 366 | 0.0765 | 4 | c.412 others(23): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33157063 | T | TACAC | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02630.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0019others(2): Show | a0001c0001t0004g0170a0001c0001t0008g0327a0001c0001t0008g0328others(5): Show | 8 | 366 | 0.0219 | 4 | c.412 others(21): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33157121 | T | TACAC | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01074.hp2 others(60): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0005a0001c0001t0001g0055a0001c0001t0001g0080others(59): Show | 63 | 366 | 0.1721 | 4 | c.412 others(21): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33161021 | T | TTCTC | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01081.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0018others(4): Show | a0001c0001t0001g0140a0001c0001t0001g0141a0001c0001t0001g0142others(8): Show | 11 | 366 | 0.0301 | 4 | c.412 others(21): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33163048 | T | TCCAC | intron_variant | MODIFIER | HG01496.hp2 HG04204.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0055 | a0001c0001t0002g0282a0001c0001t0002g0284a0001c0001t0055g0283 | 3 | 366 | 0.0082 | 4 | c.412 others(21): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT2_chr1_43974210_43996168 | 43989320 | C | CAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(127): Show |
a0000a0001a0003 | a0000c0004a0001c0001a0001c0005others(3): Show | a0000c0004t0001a0001c0001t0001a0001c0001t0005others(7): Show | a0000c0004t0001g0028a0000c0004t0001g0202a0000c0004t0001g0204others(61): Show | 130 | 406 | 0.3202 | 4 | c.969 others(19): Show |
B4GALT2 | ENSG00000117411.18 | transcript | ENST00000372324.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
B4GALT2_chr1_43974210_43996168 | 43994422 | G | GTTTC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(257): Show |
a0000a0001a0002others(2): Show | a0000c0004a0001c0001a0001c0005others(6): Show | a0000c0004t0001a0001c0001t0001a0001c0001t0002others(13): Show | a0000c0004t0001g0028a0000c0004t0001g0202a0000c0004t0001g0204others(148): Show | 260 | 406 | 0.6404 | 4 | c.*39 others(15): Show |
B4GALT2 | ENSG00000117411.18 | transcript | ENST00000372324.6 | protein_coding | 3255 | chr1 | TogoVar | ||||||
B4GALT3_chr1_161166310_161182507 | 161167557 | C | CTTTT | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01261.hp1 HG01516.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0005a0001c0002t0001g0003 | 12 | 374 | 0.0321 | 4 | c.*42 others(15): Show |
B4GALT3 | ENSG00000158850.15 | transcript | ENST00000319769.10 | protein_coding | 3752 | chr1 | TogoVar | ||||||
B4GALT3_chr1_161166310_161182507 | 161172683 | C | CTTAG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(170): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0031a0001c0001t0001g0034others(24): Show | 173 | 374 | 0.4626 | 4 | c.804 others(19): Show |
B4GALT3 | ENSG00000158850.15 | transcript | ENST00000319769.10 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
B4GALT3_chr1_161166310_161182507 | 161179281 | T | TTTCC | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(3): Show | 45 | 374 | 0.1203 | 4 | c.-20 others(15): Show |
B4GALT3 | ENSG00000158850.15 | transcript | ENST00000319769.10 | protein_coding | 1775 | chr1 | TogoVar | ||||||
B4GALT4_chr3_119206742_119245878 | 119231806 | T | TATAA | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(65): Show |
a0002 | a0002c0002a0002c0008 | a0002c0002t0001a0002c0008t0001 | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0021others(25): Show | 68 | 436 | 0.1560 | 4 | c.-14 others(23): Show |
B4GALT4 | ENSG00000121578.13 | transcript | ENST00000393765.7 | protein_coding | 2/7 | chr3 | TogoVar | ||||||
B4GALT4_chr3_119206742_119245878 | 119239325 | C | CAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00438.hp2 others(60): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0010others(31): Show | 63 | 436 | 0.1445 | 4 | c.-36 others(23): Show |
B4GALT4 | ENSG00000121578.13 | transcript | ENST00000393765.7 | protein_coding | 1/7 | chr3 | TogoVar | ||||||
B4GALT5_chr20_49627945_49718878 | 49629526 | A | ATGTG | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(133): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0010others(19): Show | a0001c0001t0002g0029a0001c0002t0001g0206a0001c0002t0001g0207others(133): Show | 136 | 364 | 0.3736 | 4 | c.*67 others(15): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 3418 | chr20 | TogoVar | ||||||
B4GALT5_chr20_49627945_49718878 | 49636907 | G | GACAC | intron_variant | MODIFIER | HG01167.hp1 HG02922.hp2 NA18954.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0002a0001c0003t0002a0001c0007t0019others(1): Show | a0001c0001t0002g0039a0001c0001t0002g0072a0001c0003t0002g0143others(4): Show | 7 | 364 | 0.0192 | 4 | c.101 others(21): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 8/8 | chr20 | TogoVar | ||||||
B4GALT5_chr20_49627945_49718878 | 49643922 | C | CTTTT | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG01346.hp1 others(11): Show |
a0002 | a0002c0004 | a0002c0004t0005a0002c0004t0014a0002c0004t0031 | a0002c0004t0005g0227a0002c0004t0005g0229a0002c0004t0005g0230others(11): Show | 14 | 364 | 0.0385 | 4 | c.365 others(19): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 3/8 | chr20 | TogoVar | ||||||
B4GALT5_chr20_49627945_49718878 | 49651954 | C | CTGGT | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0018a0001c0001t0025others(2): Show | a0001c0001t0004g0103a0001c0001t0004g0104a0001c0001t0004g0105others(43): Show | 46 | 364 | 0.1264 | 4 | c.250 others(21): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 2/8 | chr20 | TogoVar | ||||||
B4GALT5_chr20_49627945_49718878 | 49663682 | A | AAAAG | intron_variant | MODIFIER | HG01516.hp1 HG02109.hp1 HG02809.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0021a0001c0001t0022a0001c0001t0023others(4): Show | a0001c0001t0021g0213a0001c0001t0022g0098a0001c0001t0023g0183others(10): Show | 13 | 364 | 0.0357 | 4 | c.116 others(21): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | ||||||
B4GALT5_chr20_49627945_49718878 | 49664421 | T | TACAC | intron_variant | MODIFIER | HG00673.hp1 HG01123.hp2 HG01258.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(14): Show | a0001c0001t0002g0062a0001c0001t0002g0219a0001c0001t0004g0113others(41): Show | 44 | 364 | 0.1209 | 4 | c.116 others(21): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | ||||||
B4GALT5_chr20_49627945_49718878 | 49677734 | T | TTTGA | intron_variant | MODIFIER | HG02738.hp1 HG04199.hp1 HG04228.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0052a0001c0002t0055 | a0001c0002t0001g0312a0001c0002t0052g0342a0001c0002t0055g0311 | 3 | 364 | 0.0082 | 4 | c.116 others(23): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | ||||||
B4GALT5_chr20_49627945_49718878 | 49694839 | T | TACAC | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00621.hp2 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0008a0001c0001t0012a0001c0001t0021others(12): Show | a0001c0001t0008g0202a0001c0001t0008g0209a0001c0001t0008g0210others(46): Show | 49 | 364 | 0.1346 | 4 | c.115 others(23): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | ||||||
B4GALT5_chr20_49627945_49718878 | 49694856 | A | ACACC | intron_variant | MODIFIER | HG01070.hp2 HG01109.hp2 HG01516.hp2 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0042 | a0001c0003t0003g0148a0001c0003t0003g0164a0001c0003t0042g0135 | 3 | 364 | 0.0082 | 4 | c.115 others(23): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | ||||||
B4GALT5_chr20_49627945_49718878 | 49698610 | T | TCACA | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00621.hp2 others(23): Show |
a0002 | a0002c0004 | a0002c0004t0005a0002c0004t0014a0002c0004t0031others(1): Show | a0002c0004t0005g0220a0002c0004t0005g0221a0002c0004t0005g0222others(23): Show | 26 | 364 | 0.0714 | 4 | c.115 others(23): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | ||||||
B4GALT5_chr20_49627945_49718878 | 49710405 | C | CTCTT | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp1 others(68): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0018others(10): Show | a0001c0001t0004g0103a0001c0001t0004g0104a0001c0001t0004g0105others(68): Show | 71 | 364 | 0.1951 | 4 | c.115 others(21): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | ||||||
B4GALT6_chr18_31617246_31689581 | 31619868 | A | AAGAG | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(198): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0002g0013a0001c0001t0002g0031a0001c0001t0002g0032others(189): Show | 201 | 306 | 0.6569 | 4 | c.*57 others(15): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 2377 | chr18 | TogoVar | ||||||
B4GALT6_chr18_31617246_31689581 | 31629447 | A | ATTTT | intron_variant | MODIFIER | HG02486.hp1 HG04184.hp2 HG06807.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0114a0001c0001t0002g0037a0001c0001t0002g0051others(6): Show | 9 | 306 | 0.0294 | 4 | c.776 others(21): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 6/8 | chr18 | TogoVar | ||||||
B4GALT6_chr18_31617246_31689581 | 31670428 | G | GATGA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(198): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(183): Show | 201 | 306 | 0.6569 | 4 | c.116 others(21): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 1/8 | chr18 | TogoVar | ||||||
B4GALT6_chr18_31617246_31689581 | 31681116 | T | TCAAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(251): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(232): Show | 254 | 306 | 0.8301 | 4 | c.115 others(21): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 1/8 | chr18 | TogoVar |