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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
B3GAT1_chr11_134373508_134417242 | 134403983 | T | TTATATAT others(9): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0315 | 1 | 352 | 0.0028 | 16 | c.-28 others(35): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
B3GAT1_chr11_134373508_134417242 | 134404027 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0250 | 1 | 352 | 0.0028 | 16 | c.-28 others(35): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70879480 | G | GATTCATT others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG01192.hp1 others(43): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(19): Show | a0001c0001t0002g0001a0001c0001t0002g0034a0001c0001t0002g0037others(42): Show | 46 | 316 | 0.1456 | 16 | c.736 others(35): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 2/3 | chr6 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70902617 | G | GATATATA others(9): Show |
intron_variant | MODIFIER | NA18965.hp1 NA19010.hp1 |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0093 | a0001c0002t0011g0270a0001c0002t0093g0268 | 2 | 316 | 0.0063 | 16 | c.592 others(33): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31213616 | A | ACCCCCCC others(9): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0137 | 1 | 268 | 0.0037 | 16 | c.71- others(31): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
B3GLCT_chr13_31194975_31337276 | 31253595 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0174 | 1 | 268 | 0.0037 | 16 | c.459 others(33): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
B3GLCT_chr13_31194975_31337276 | 31316407 | T | TTATATAT others(9): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG01496.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(2): Show | a0001c0001t0001g0051a0001c0001t0001g0080a0001c0001t0001g0117others(18): Show | 21 | 268 | 0.0784 | 16 | c.106 others(35): 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(9): Show |
intron_variant | MODIFIER | HG02698.hp2 HG02886.hp2 HG03927.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0064a0002c0002t0002g0137a0002c0002t0002g0144others(2): Show | 5 | 268 | 0.0187 | 16 | c.106 others(35): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
B3GLCT_chr13_31194975_31337276 | 31319390 | A | ATAAACTA others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(144): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0013a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0014a0001c0001t0001g0022a0001c0001t0001g0024others(143): Show | 147 | 268 | 0.5485 | 16 | c.118 others(35): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
B3GNT3_chr19_17790138_17818576 | 17792577 | C | CAAAAAAA others(9): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 406 | 0.0025 | 16 | c.-26 others(27): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 2560 | chr19 | TogoVar | ||||||
B3GNT3_chr19_17790138_17818576 | 17807111 | A | AGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00642.hp2 others(51): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0002g0143a0001c0001t0002g0162a0001c0001t0002g0221others(43): Show | 54 | 406 | 0.1330 | 16 | c.-50 others(31): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
B3GNT5_chr3_183248253_183278385 | 183256835 | A | ACCATGTT others(9): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01071.hp1 others(78): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0013a0001c0001t0001g0022a0001c0001t0001g0023others(66): Show | 81 | 390 | 0.2077 | 16 | c.-30 others(35): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
B3GNT5_chr3_183248253_183278385 | 183269230 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01515.hp2 HG02132.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0017 | a0001c0001t0001g0047a0001c0001t0001g0064a0001c0001t0001g0122others(5): Show | 9 | 390 | 0.0231 | 16 | c.-30 others(33): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
B3GNT8_chr19_41420359_41432374 | 41428633 | A | ACACAGTC others(9): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 HG02258.hp2 HG02895.hp1 others(5): Show |
a0001a0006 | a0001c0003a0006c0015 | a0001c0003t0001a0001c0003t0009a0006c0015t0001 | a0001c0003t0001g0006a0001c0003t0009g0033a0006c0015t0001g0027 | 8 | 420 | 0.0191 | 16 | c.-13 others(27): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 1260 | chr19 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82940219 | G | GCACACAC others(9): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG01106.hp1 HG01516.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0004a0001c0002t0002a0001c0006t0002others(1): Show | a0001c0001t0004g0238a0001c0002t0002g0077a0001c0002t0002g0093others(3): Show | 6 | 266 | 0.0226 | 16 | c.*38 others(27): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 1929 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82940221 | G | GCACACAC others(9): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp2 NA18944.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0008 | a0001c0001t0002g0058a0001c0002t0008g0091a0001c0002t0008g0092others(2): Show | 5 | 266 | 0.0188 | 16 | c.*38 others(27): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 1927 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82940221 | G | GCGCACAC others(9): Show |
downstream_gene_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0073 | 1 | 266 | 0.0038 | 16 | c.*38 others(27): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 1927 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82946569 | A | AGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02451.hp1 others(4): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0011others(1): Show | a0001c0002t0002a0001c0003t0015a0001c0011t0011others(1): Show | a0001c0002t0002g0065a0001c0002t0002g0086a0001c0003t0015g0198others(4): Show | 7 | 266 | 0.0263 | 16 | c.*24 others(31): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 12/12 | chr17 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 500865 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02602.hp1 HG02738.hp2 NA19078.hp2 others(1): Show |
a0001a0004a0009 | a0001c0001a0001c0002a0004c0028others(1): Show | a0001c0001t0053a0001c0002t0009a0004c0028t0004others(1): Show | a0001c0001t0053g0077a0001c0002t0009g0241a0004c0028t0004g0207others(1): Show | 4 | 394 | 0.0102 | 16 | c.170 others(35): 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(9): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01358.hp2 HG02027.hp1 others(12): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(12): Show | a0001c0001t0001g0393a0001c0001t0003g0101a0001c0001t0020g0130others(12): Show | 15 | 394 | 0.0381 | 16 | c.170 others(35): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 525092 | T | TTATTTAT others(9): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00609.hp2 others(71): Show |
a0001a0002a0013others(3): Show | a0001c0001a0001c0002a0001c0010others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0034a0001c0001t0001g0096a0001c0001t0001g0100others(71): Show | 74 | 394 | 0.1878 | 16 | c.170 others(35): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 525104 | T | TTATGTAT others(9): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0369 | 1 | 394 | 0.0025 | 16 | c.170 others(35): 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(9): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0023 | a0023c0046 | a0023c0046t0013 | a0023c0046t0013g0245 | 1 | 394 | 0.0025 | 16 | c.120 others(33): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 369206 | C | CCCGAGCC others(9): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 HG01361.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0006 | a0002c0002t0001g0180a0002c0002t0006g0153 | 2 | 184 | 0.0109 | 16 | c.-59 others(25): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 292 | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 374727 | A | AGGAGGAA others(9): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0073 | 1 | 184 | 0.0054 | 16 | c.784 others(31): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 375085 | A | AGGGAGGA others(9): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0004 | a0004c0012 | a0004c0012t0002 | a0004c0012t0002g0022 | 1 | 184 | 0.0054 | 16 | c.784 others(31): 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(9): Show |
intron_variant | MODIFIER | HG01168.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0021 | a0001c0001t0004g0157a0001c0001t0021g0167 | 2 | 366 | 0.0055 | 16 | c.413 others(31): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33157063 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02630.hp1 HG02683.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0316a0001c0001t0002g0230a0001c0001t0002g0234others(10): Show | 13 | 366 | 0.0355 | 16 | c.412 others(33): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33157121 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02630.hp2 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011a0001c0001t0019 | a0001c0001t0004g0170a0001c0001t0011g0025a0001c0001t0019g0051 | 3 | 366 | 0.0082 | 16 | c.412 others(33): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT5_chr20_49627945_49718878 | 49636907 | G | GACACACA others(9): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01358.hp1 HG02486.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0027a0001c0001t0043a0001c0002t0050others(1): Show | a0001c0001t0027g0100a0001c0001t0043g0127a0001c0002t0050g0205others(2): Show | 5 | 364 | 0.0137 | 16 | c.101 others(33): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 8/8 | chr20 | TogoVar | ||||||
B4GALT5_chr20_49627945_49718878 | 49643922 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0180 | 1 | 364 | 0.0028 | 16 | c.365 others(31): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 3/8 | chr20 | TogoVar | ||||||
B4GALT5_chr20_49627945_49718878 | 49703730 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02895.hp1 HG02897.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0175a0001c0001t0006g0176a0001c0001t0006g0177others(3): Show | 6 | 364 | 0.0165 | 16 | c.115 others(33): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | ||||||
B4GALT6_chr18_31617246_31689581 | 31664162 | C | CACCAAAA others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp1 others(102): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(93): Show | 105 | 306 | 0.3431 | 16 | c.232 others(33): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 2/8 | chr18 | TogoVar | ||||||
B4GALT6_chr18_31617246_31689581 | 31664162 | C | CACCAAGA others(9): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0216 | 1 | 306 | 0.0033 | 16 | c.232 others(33): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 2/8 | chr18 | TogoVar | ||||||
B4GALT6_chr18_31617246_31689581 | 31664162 | C | CACCAAGA others(9): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01070.hp2 HG01071.hp1 others(90): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0010a0001c0001t0001g0156a0001c0001t0001g0182others(84): Show | 93 | 306 | 0.3039 | 16 | c.232 others(33): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 2/8 | chr18 | TogoVar | ||||||
B4GALT6_chr18_31617246_31689581 | 31688247 | G | GTATATAT others(9): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0069 | 1 | 306 | 0.0033 | 16 | c.-38 others(27): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 3667 | chr18 | TogoVar | ||||||
B4GALT6_chr18_31617246_31689581 | 31688262 | T | TATATATA others(9): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 HG02723.hp2 HG02809.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0020a0002c0002t0003a0002c0002t0005 | a0001c0001t0020g0020a0002c0002t0003g0279a0002c0002t0003g0280others(2): Show | 5 | 306 | 0.0163 | 16 | c.-38 others(27): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 3682 | chr18 | TogoVar | ||||||
BAALC_chr8_103135725_103235305 | 103171385 | A | AGAGGAAG others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(162): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0037a0001c0001t0001g0044a0001c0001t0001g0062others(142): Show | 165 | 332 | 0.4970 | 16 | c.160 others(35): Show |
BAALC | ENSG00000164929.17 | transcript | ENST00000309982.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 27983942 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01081.hp1 HG01081.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0045a0001c0001t0001g0055a0001c0001t0001g0057others(11): Show | 14 | 158 | 0.0886 | 16 | c.206 others(33): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28026959 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02723.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0014a0001c0001t0001g0015 | 3 | 158 | 0.0190 | 16 | c.495 others(33): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28026971 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0025 | 2 | 158 | 0.0127 | 16 | c.495 others(33): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28040294 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01081.hp1 HG01106.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0040a0001c0001t0001g0042a0001c0001t0001g0065others(8): Show | 11 | 158 | 0.0696 | 16 | c.496 others(33): 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(9): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG01081.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0060a0001c0001t0001g0072a0001c0001t0001g0082others(8): Show | 11 | 158 | 0.0696 | 16 | c.571 others(35): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28112146 | T | TTTCTTTC others(9): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 158 | 0.0063 | 16 | c.571 others(35): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28112147 | T | TTCTTTCT others(9): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 158 | 0.0063 | 16 | c.571 others(35): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28112147 | T | TTCTTTCT others(9): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 158 | 0.0063 | 16 | c.571 others(35): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28112193 | C | CCCTTCCT others(9): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 158 | 0.0063 | 16 | c.571 others(35): 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(9): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01106.hp2 HG02074.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0102others(6): Show | 9 | 158 | 0.0570 | 16 | c.680 others(35): 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(9): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02615.hp1 HG03139.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0032a0001c0001t0001g0035a0001c0001t0001g0102others(5): Show | 8 | 158 | 0.0506 | 16 | c.681 others(35): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28183740 | C | CTCACACA others(9): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01496.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0017a0002c0002t0001g0085 | 2 | 158 | 0.0127 | 16 | c.681 others(35): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | chr2 | TogoVar |