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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AUTS2_chr7_69593475_70798506 | 69762293 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00597.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0001g0071 a0001c0001t0003g0068 a0001c0001t0005g0005 others(19): Show |
22 | 28 | 0.7857 | -13 | c.310 others(34): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69806073 | AACTTTTG others(6): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp2 NA19030.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0006a0001c0004t0012a0001c0004t0013others(1): Show | a0001c0001t0006g0010 a0001c0004t0012g0025 a0001c0004t0013g0024 others(1): Show |
4 | 76 | 0.0526 | -13 | c.310 others(32): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69850398 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0001 | 1 | 3 | 0.3333 | -13 | c.310 others(32): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69876344 | AAAAAAAT others(6): Show |
A | intron_variant | MODIFIER | HG04199.hp1 | a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0030 | 1 | 74 | 0.0135 | -13 | c.310 others(32): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69876346 | AAAAATAT others(6): Show |
A | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 71 | 0.0141 | -13 | c.310 others(32): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69891774 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0006 | 1 | 3 | 0.3333 | -13 | c.310 others(30): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69921327 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0073 a0001c0001t0019g0076 |
2 | 8 | 0.2500 | -13 | c.522 others(32): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70076234 | AAAAGCAT others(6): Show |
A | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0001 | 1 | 76 | 0.0132 | -13 | c.523 others(32): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70156891 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG02615.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014 | a0001c0001t0001g0026 a0001c0001t0003g0068 a0001c0001t0014g0070 |
3 | 16 | 0.1875 | -13 | c.660 others(32): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70162445 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0022 | 1 | 2 | 0.5000 | -13 | c.660 others(32): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70185257 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0039 | 1 | 28 | 0.0357 | -13 | c.660 others(32): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70595962 | CTGCCTGC others(6): Show |
C | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0015 | 1 | 76 | 0.0132 | -13 | c.691 others(34): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70712193 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01884.hp1 HG03041.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0006a0001c0001t0007a0001c0005t0030 | a0001c0001t0006g0038 a0001c0001t0007g0040 a0001c0005t0030g0013 |
3 | 12 | 0.2500 | -13 | c.742 others(32): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33931349 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01169.hp2 HG01257.hp1 HG02145.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0100 a0001c0001t0001g0253 a0001c0001t0001g0254 others(2): Show |
5 | 7 | 0.7143 | -13 | c.446 others(32): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33937932 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 HG02965.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0007 | a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0082 others(2): Show |
5 | 26 | 0.1923 | -13 | c.446 others(32): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33958600 | AAAAAAAG others(6): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01884.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0044 others(3): Show |
6 | 264 | 0.0227 | -13 | c.445 others(32): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33962919 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 6 | 0.1667 | -13 | c.445 others(32): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33982982 | GACTGCAC others(6): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(119): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0012a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(119): Show |
122 | 264 | 0.4621 | -13 | c.445 others(32): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 34008483 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(102): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0034 a0001c0001t0001g0082 a0001c0001t0001g0119 others(101): Show |
105 | 170 | 0.6176 | -13 | c.268 others(30): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
AVPI1_chr10_97672424_97692241 | 97678916 | TGTGTGTG others(6): Show |
T | intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 444 | 0.0023 | -13 | c.287 others(28): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
AVPI1_chr10_97672424_97692241 | 97678920 | TGTGTGTG others(6): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 444 | 0.0023 | -13 | c.287 others(28): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
AVPI1_chr10_97672424_97692241 | 97678922 | TGTGTGTG others(6): Show |
T | intron_variant | MODIFIER | HG00558.hp2 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 2 | 412 | 0.0049 | -13 | c.287 others(28): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
AWAT2_chrX_70035542_70054938 | 70050424 | ATACCTTC others(6): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02922.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0011 a0001c0001t0008g0030 |
5 | 336 | 0.0149 | -13 | c.-50 others(22): Show |
AWAT2 | ENSG00000147160.9 | transcript | ENST00000276101.7 | protein_coding | 487 | chrX | TogoVar | |||||||
AXDND1_chr1_179360971_179559735 | 179421367 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02809.hp2 HG03209.hp2 |
a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0193 a0006c0009t0001g0194 |
2 | 61 | 0.0328 | -13 | c.123 others(32): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179426473 | CATTTGCA others(6): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02572.hp2 others(8): Show |
a0001a0017 | a0001c0007a0017c0028 | a0001c0007t0001a0017c0028t0001 | a0001c0007t0001g0080 a0001c0007t0001g0182 a0001c0007t0001g0185 others(8): Show |
11 | 354 | 0.0311 | -13 | c.123 others(32): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179487518 | TAATTGCA others(6): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(198): Show |
a0001a0002a0004others(7): Show | a0001c0002a0001c0006a0001c0007others(15): Show | a0001c0002t0001a0001c0006t0001a0001c0007t0001others(15): Show | a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 others(197): Show |
201 | 354 | 0.5678 | -13 | c.209 others(32): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179488632 | CTCCTTTC others(6): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp2 HG01169.hp2 others(15): Show |
a0001a0002a0004 | a0001c0002a0001c0006a0001c0007others(3): Show | a0001c0002t0001a0001c0006t0001a0001c0007t0001others(3): Show | a0001c0002t0001g0104 a0001c0002t0001g0109 a0001c0002t0001g0113 others(15): Show |
18 | 294 | 0.0612 | -13 | c.209 others(32): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179544683 | AAAAAAAG others(6): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0185 | 1 | 354 | 0.0028 | -13 | c.303 others(32): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXIN2_chr17_65523563_65566648 | 65538667 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0089 | 1 | 17 | 0.0588 | -13 | c.106 others(30): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 4/10 | chr17 | TogoVar | |||||||
AZIN1_chr8_102821308_102869163 | 102839578 | TCTAACCG others(6): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01175.hp2 HG01346.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0152 a0001c0001t0006g0154 a0001c0001t0006g0159 others(1): Show |
4 | 378 | 0.0106 | -13 | c.276 others(26): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 4/11 | chr8 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235480905 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0103 | 1 | 11 | 0.0909 | -13 | c.556 others(28): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 4/11 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235498843 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 1 | 25 | 0.0400 | -13 | c.113 others(30): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167389929 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0041 | a0001c0003t0041g0115 | 1 | 116 | 0.0086 | -13 | c.-51 others(34): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167422237 | TCTCCCTC others(6): Show |
T | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 1 | 116 | 0.0086 | -13 | c.-51 others(34): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167466323 | AAGATGGT others(6): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 116 | 0.0086 | -13 | c.-51 others(34): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167647361 | AAGCAGCA others(6): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG00738.hp2 HG01106.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0043 a0001c0001t0001g0062 a0001c0001t0001g0076 others(18): Show |
21 | 116 | 0.1810 | -13 | c.-35 others(30): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167774485 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01106.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0079 others(26): Show |
29 | 111 | 0.2613 | -13 | c.-35 others(34): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39674690 | TTTCACTG others(6): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0247 | 1 | 334 | 0.0030 | -13 | c.*13 others(26): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1554 | chr21 | TogoVar | |||||||
B3GALT6_chr1_1227237_1240041 | 1234193 | CCGACGCG others(6): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0000 | 1 | 364 | 0.0027 | -13 | c.*92 others(22): Show |
B3GALT6 | ENSG00000176022.7 | transcript | ENST00000379198.5 | protein_coding | 1/1 | 927 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
B3GNT2_chr2_62191115_62229731 | 62191509 | CTTTTTTT others(6): Show |
C | upstream_gene_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 155 | 0.0065 | -13 | c.-48 others(24): Show |
B3GNT2 | ENSG00000170340.11 | transcript | ENST00000301998.5 | protein_coding | 4605 | chr2 | TogoVar | |||||||
B3GNT4_chr12_122198709_122213952 | 122209028 | AAAAGGTA others(6): Show |
A | downstream_gene_variant | MODIFIER | HG02622.hp1 HG02717.hp2 |
a0006 | a0006c0007 | a0006c0007t0020 | a0006c0007t0020g0006 | 2 | 410 | 0.0049 | -13 | c.*16 others(24): Show |
B3GNT4 | ENSG00000176383.9 | transcript | ENST00000324189.5 | protein_coding | 77 | chr12 | TogoVar | |||||||
B3GNT4_chr12_122198709_122213952 | 122209892 | ACCTTTAT others(6): Show |
A | downstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 410 | 0.0024 | -13 | c.*25 others(24): Show |
B3GNT4 | ENSG00000176383.9 | transcript | ENST00000324189.5 | protein_coding | 941 | chr12 | TogoVar | |||||||
B3GNT4_chr12_122198709_122213952 | 122211071 | TAAAAGTA others(6): Show |
T | downstream_gene_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 410 | 0.0024 | -13 | c.*36 others(24): Show |
B3GNT4 | ENSG00000176383.9 | transcript | ENST00000324189.5 | protein_coding | 2120 | chr12 | TogoVar | |||||||
B3GNT6_chr11_77029398_77046973 | 77038031 | AGAGGGAT others(6): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG03098.hp2 HG06807.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0020 | 3 | 124 | 0.0242 | -13 | c.1-1 others(26): Show |
B3GNT6 | ENSG00000198488.10 | transcript | ENST00000622824.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83051084 | AGGCAGGT others(6): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp1 HG02559.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0002g0065 a0001c0001t0004g0256 a0001c0001t0004g0258 others(4): Show |
7 | 266 | 0.0263 | -13 | c.15+ others(26): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 1/12 | chr17 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 511013 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01516.hp1 HG02897.hp2 NA18941.hp2 others(2): Show |
a0001a0003a0013others(1): Show | a0001c0001a0003c0004a0013c0019others(1): Show | a0001c0001t0003a0001c0001t0015a0003c0004t0003others(2): Show | a0001c0001t0003g0350 a0001c0001t0015g0224 a0003c0004t0003g0134 others(2): Show |
5 | 44 | 0.1136 | -13 | c.170 others(32): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 512051 | TCGACCTT others(6): Show |
T | intron_variant | MODIFIER | NA18990.hp2 | a0004 | a0004c0005 | a0004c0005t0014 | a0004c0005t0014g0290 | 1 | 392 | 0.0026 | -13 | c.170 others(32): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 512246 | CCTTCTTC others(6): Show |
C | intron_variant | MODIFIER | NA18990.hp2 | a0004 | a0004c0005 | a0004c0005t0014 | a0004c0005t0014g0290 | 1 | 392 | 0.0026 | -13 | c.170 others(32): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33130879 | AGAAGCAG others(6): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG01358.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(4): Show | a0001c0001t0001g0019 a0001c0001t0005g0024 a0001c0001t0005g0025 others(17): Show |
22 | 214 | 0.1028 | -13 | c.648 others(30): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
B4GALT3_chr1_161166310_161182507 | 161167557 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG02572.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 |
2 | 169 | 0.0118 | -13 | c.*42 others(24): Show |
B4GALT3 | ENSG00000158850.15 | transcript | ENST00000319769.10 | protein_coding | 3752 | chr1 | TogoVar |