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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AWAT1_chrX_70229655_70245659 | 70232232 | A | AGGCAT | upstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 315 | 0.0032 | 5 | c.-24 others(16): Show |
AWAT1 | ENSG00000204195.4 | transcript | ENST00000374521.4 | protein_coding | 2422 | chrX | TogoVar | ||||||
AWAT2_chrX_70035542_70054938 | 70039755 | T | TAAAAA | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00639.hp1 others(68): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0015others(5): Show | 71 | 338 | 0.2101 | 5 | c.*19 others(16): Show |
AWAT2 | ENSG00000147160.9 | transcript | ENST00000276101.7 | protein_coding | 786 | chrX | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179455868 | G | GTTTGT | intron_variant | MODIFIER | HG01071.hp2 HG02145.hp2 HG02622.hp2 others(13): Show |
a0003a0007a0011others(2): Show | a0003c0004a0007c0009a0011c0016others(2): Show | a0003c0004t0001a0007c0009t0001a0011c0016t0001others(2): Show | a0003c0004t0001g0173a0003c0004t0001g0177a0003c0004t0001g0179others(13): Show | 16 | 356 | 0.0449 | 5 | c.179 others(26): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179459703 | C | CCTTTT | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01071.hp2 others(12): Show |
a0003a0008a0009others(1): Show | a0003c0004a0008c0012a0009c0013others(1): Show | a0003c0004t0001a0008c0012t0001a0009c0013t0001others(1): Show | a0003c0004t0001g0173a0003c0004t0001g0177a0003c0004t0001g0179others(12): Show | 15 | 356 | 0.0421 | 5 | c.179 others(24): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179479475 | C | CAAAAA | intron_variant | MODIFIER | HG02145.hp2 HG02809.hp2 HG02818.hp2 others(6): Show |
a0007a0011a0022 | a0007c0009a0011c0016a0022c0034 | a0007c0009t0001a0011c0016t0001a0022c0034t0001 | a0007c0009t0001g0176a0007c0009t0001g0191a0007c0009t0001g0192others(6): Show | 9 | 356 | 0.0253 | 5 | c.199 others(24): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179486139 | A | AAAACT | intron_variant | MODIFIER | HG02145.hp2 HG02809.hp2 HG02818.hp2 others(6): Show |
a0007a0011a0022 | a0007c0009a0011c0016a0022c0034 | a0007c0009t0001a0011c0016t0001a0022c0034t0001 | a0007c0009t0001g0176a0007c0009t0001g0191a0007c0009t0001g0192others(6): Show | 9 | 356 | 0.0253 | 5 | c.209 others(24): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179488014 | A | AAAAAG | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02559.hp1 others(11): Show |
a0003a0006a0009 | a0003c0004a0006c0010a0009c0013 | a0003c0004t0001a0006c0010t0001a0009c0013t0001 | a0003c0004t0001g0008a0003c0004t0001g0022a0003c0004t0001g0023others(11): Show | 14 | 356 | 0.0393 | 5 | c.209 others(24): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXIN1_chr16_282440_357723 | 341669 | C | CCGGTG | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp2 HG02615.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0004a0001c0003t0027others(2): Show | a0001c0001t0001g0072a0001c0001t0001g0083a0001c0001t0001g0084others(13): Show | 16 | 378 | 0.0423 | 5 | c.878 others(22): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 349104 | A | AAAAAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(117): Show |
a0001a0006a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(17): Show | a0001c0001t0001g0202a0001c0001t0001g0203a0001c0001t0001g0282others(116): Show | 120 | 378 | 0.3175 | 5 | c.-81 others(22): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 351609 | C | CAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02451.hp1 others(8): Show |
a0001 | a0001c0003a0001c0004a0001c0009 | a0001c0003t0003a0001c0003t0041a0001c0003t0045others(2): Show | a0001c0003t0003g0046a0001c0003t0003g0047a0001c0003t0003g0048others(8): Show | 11 | 378 | 0.0291 | 5 | c.-82 others(20): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
AXIN2_chr17_65523563_65566648 | 65538667 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG01891.hp1 HG02145.hp1 others(4): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0005t0001others(1): Show | a0001c0002t0001g0065a0001c0002t0001g0081a0001c0003t0001g0244others(3): Show | 7 | 402 | 0.0174 | 5 | c.106 others(22): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 4/10 | chr17 | TogoVar | ||||||
AXL_chr19_41214223_41266766 | 41247895 | T | TTTTTA | intron_variant | MODIFIER | HG01109.hp2 HG02486.hp1 HG02896.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0018a0001c0001t0024others(3): Show | a0001c0001t0017g0037a0001c0001t0017g0101a0001c0001t0018g0038others(4): Show | 7 | 314 | 0.0223 | 5 | c.153 others(22): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AXL_chr19_41214223_41266766 | 41260298 | C | CTTTTT | 3_prime_UTR_variant | MODIFIER | HG01081.hp2 HG01169.hp1 HG01192.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0028 | a0001c0001t0022g0096a0001c0001t0022g0097a0001c0001t0022g0098others(4): Show | 7 | 314 | 0.0223 | 5 | c.*42 others(14): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 20/20 | 426 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AZIN2_chr1_33076153_33128492 | 33125733 | C | CCCTTT | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG01891.hp1 others(13): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0002g0037a0001c0001t0006g0009a0001c0001t0006g0017others(8): Show | 16 | 322 | 0.0497 | 5 | c.*55 others(16): Show |
AZIN2 | ENSG00000142920.18 | transcript | ENST00000294517.11 | protein_coding | 2242 | chr1 | TogoVar | ||||||
B3GALNT1_chr3_161078883_161110349 | 161104927 | T | TGCGGC | intron_variant | MODIFIER | HG01243.hp2 HG01255.hp1 HG01891.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0015a0001c0001t0001g0020a0001c0001t0001g0139others(1): Show | 11 | 400 | 0.0275 | 5 | c.-30 others(22): Show |
B3GALNT1 | ENSG00000169255.15 | transcript | ENST00000320474.10 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235505693 | G | GTTTTT | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(7): Show | a0001c0001t0002g0014a0001c0001t0002g0022a0001c0001t0002g0031others(24): Show | 27 | 344 | 0.0785 | 5 | c.-14 others(16): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 1242 | chr1 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167330169 | T | TTTGAG | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0018others(1): Show | a0001c0001t0002g0094a0001c0001t0010g0092a0001c0001t0018g0093others(1): Show | 4 | 118 | 0.0339 | 5 | c.-51 others(26): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167334071 | C | CTATAT | intron_variant | MODIFIER | HG00673.hp1 HG01346.hp1 HG02040.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(5): Show | a0001c0001t0001g0015a0001c0001t0004g0013a0001c0001t0004g0014others(6): Show | 9 | 118 | 0.0763 | 5 | c.-51 others(26): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167387012 | C | CATCAT | intron_variant | MODIFIER | HG03654.hp2 HG03831.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0028 | a0001c0001t0001g0043a0001c0001t0007g0042a0001c0001t0028g0056 | 3 | 118 | 0.0254 | 5 | c.-51 others(26): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167408807 | A | AAAAAC | intron_variant | MODIFIER | HG01106.hp1 HG01346.hp2 HG01891.hp2 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0007a0001c0001t0001g0023a0001c0001t0001g0032others(19): Show | 22 | 118 | 0.1864 | 5 | c.-51 others(26): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167533997 | G | GTTTGT | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG01255.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0062a0001c0001t0002g0029a0001c0001t0002g0049others(19): Show | 22 | 118 | 0.1864 | 5 | c.-41 others(26): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167545023 | C | CTTTTT | intron_variant | MODIFIER | HG00738.hp1 HG01891.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0003g0114a0001c0001t0005g0101a0001c0001t0007g0100others(2): Show | 5 | 118 | 0.0424 | 5 | c.-41 others(26): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167563774 | T | TGGGTG | intron_variant | MODIFIER | HG01169.hp2 HG01891.hp2 HG02257.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0010a0001c0001t0015others(4): Show | a0001c0001t0002g0001a0001c0001t0002g0010a0001c0001t0002g0011others(7): Show | 10 | 118 | 0.0848 | 5 | c.-41 others(26): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167579432 | C | CTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01169.hp2 HG01891.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0062a0001c0001t0002g0001a0001c0001t0002g0010others(13): Show | 16 | 118 | 0.1356 | 5 | c.-40 others(26): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167601178 | G | GCCTCT | intron_variant | MODIFIER | HG02896.hp1 HG03471.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0015a0001c0001t0034 | a0001c0001t0005g0051a0001c0001t0015g0079a0001c0001t0034g0103 | 3 | 118 | 0.0254 | 5 | c.-40 others(26): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167628402 | A | AGTACC | intron_variant | MODIFIER | HG01169.hp2 HG01255.hp1 HG01496.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0011a0001c0001t0015others(12): Show | a0001c0001t0002g0029a0001c0001t0002g0070a0001c0001t0011g0050others(13): Show | 16 | 118 | 0.1356 | 5 | c.-40 others(26): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167703500 | A | ATTATC | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(88): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0003a0001c0001t0001g0023a0001c0001t0001g0032others(88): Show | 91 | 118 | 0.7712 | 5 | c.-35 others(26): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT2_chr1_193173730_193191613 | 193177358 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG00735.hp2 others(23): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0048others(4): Show | 26 | 398 | 0.0653 | 5 | c.*29 others(16): Show |
B3GALT2 | ENSG00000162630.6 | transcript | ENST00000367434.5 | protein_coding | 1371 | chr1 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70898987 | T | TAAATA | intron_variant | MODIFIER | HG02630.hp2 HG02647.hp1 HG02723.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0001t0066a0001c0002t0041 | a0001c0001t0012g0009a0001c0001t0012g0010a0001c0001t0066g0139others(2): Show | 5 | 316 | 0.0158 | 5 | c.592 others(22): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
B3GAT3_chr11_62610296_62626986 | 62619699 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG01168.hp2 HG02559.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055a0001c0001t0001g0056a0001c0001t0001g0057others(3): Show | 6 | 290 | 0.0207 | 5 | c.257 others(20): Show |
B3GAT3 | ENSG00000149541.10 | transcript | ENST00000265471.10 | protein_coding | 2/4 | chr11 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31306544 | A | AATCAT | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0086a0001c0001t0001g0108a0001c0001t0001g0175others(5): Show | 8 | 268 | 0.0299 | 5 | c.106 others(26): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 12/14 | chr13 | TogoVar | ||||||
B3GNT3_chr19_17790138_17818576 | 17791267 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG02647.hp2 HG02809.hp2 HG02896.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0002a0001c0001t0006a0001c0003t0008others(1): Show | a0001c0001t0002g0007a0001c0001t0006g0269a0001c0003t0008g0198others(1): Show | 4 | 406 | 0.0099 | 5 | c.-39 others(16): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 3870 | chr19 | TogoVar | ||||||
B3GNT3_chr19_17790138_17818576 | 17804533 | C | CTTTTT | intron_variant | MODIFIER | HG01074.hp2 HG02258.hp2 HG02572.hp1 others(5): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0003a0001c0001t0013a0002c0002t0014others(1): Show | a0001c0001t0003g0271a0001c0001t0013g0155a0002c0002t0014g0016others(3): Show | 8 | 406 | 0.0197 | 5 | c.-50 others(22): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
B3GNT4_chr12_122198709_122213952 | 122213507 | G | GAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(160): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0014a0001c0015others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0023others(27): Show | 163 | 412 | 0.3956 | 5 | c.*61 others(16): Show |
B3GNT4 | ENSG00000176383.9 | transcript | ENST00000324189.5 | protein_coding | 4556 | chr12 | TogoVar | ||||||
B3GNT5_chr3_183248253_183278385 | 183257958 | C | CTTTTT | intron_variant | MODIFIER | HG01081.hp2 HG01255.hp1 HG02109.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0047a0001c0001t0001g0190a0001c0001t0001g0191others(9): Show | 15 | 390 | 0.0385 | 5 | c.-30 others(24): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
B3GNT5_chr3_183248253_183278385 | 183266790 | C | CTTTTT | intron_variant | MODIFIER | HG01081.hp2 HG02257.hp2 HG02572.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0024a0001c0001t0005g0054a0001c0001t0005g0074others(4): Show | 9 | 390 | 0.0231 | 5 | c.-30 others(24): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
B4GALNT1_chr12_57618409_57638201 | 57634082 | A | ACCCCC | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG01928.hp2 others(12): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0005c0009t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(2): Show | 15 | 406 | 0.0370 | 5 | c.-13 others(16): Show |
B4GALNT1 | ENSG00000135454.14 | transcript | ENST00000341156.9 | protein_coding | 882 | chr12 | TogoVar | ||||||
B4GALNT2_chr17_49127769_49181840 | 49129618 | A | ATTTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(109): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0013a0001c0001t0001g0178a0001c0001t0001g0182others(103): Show | 112 | 380 | 0.2947 | 5 | c.-31 others(16): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 3150 | chr17 | TogoVar | ||||||
B4GALNT2_chr17_49127769_49181840 | 49159334 | G | GTTTGT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(229): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(212): Show | 232 | 380 | 0.6105 | 5 | c.679 others(20): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
B4GALNT2_chr17_49127769_49181840 | 49162912 | C | CAAAAA | intron_variant | MODIFIER | HG01175.hp1 HG01243.hp1 HG01346.hp1 others(20): Show |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0215a0001c0001t0002g0024a0001c0001t0002g0025others(19): Show | 23 | 380 | 0.0605 | 5 | c.767 others(22): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 500865 | C | CTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG01081.hp2 others(18): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0002a0001c0016others(6): Show | a0001c0001t0016a0001c0001t0028a0001c0001t0055others(15): Show | a0001c0001t0016g0282a0001c0001t0028g0208a0001c0001t0055g0181others(18): Show | 21 | 394 | 0.0533 | 5 | c.170 others(24): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 539912 | A | AAAAAT | intron_variant | MODIFIER | HG01358.hp1 HG01952.hp2 HG02257.hp1 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0002a0003c0004t0020a0003c0004t0029 | a0003c0004t0002g0285a0003c0004t0002g0297a0003c0004t0020g0189others(2): Show | 5 | 394 | 0.0127 | 5 | c.351 others(22): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 555653 | C | CTGCCA | intron_variant | MODIFIER | HG02622.hp1 HG02723.hp1 HG02809.hp1 others(4): Show |
a0001a0005 | a0001c0001a0001c0048a0005c0006others(1): Show | a0001c0001t0002a0001c0001t0022a0001c0001t0031others(4): Show | a0001c0001t0002g0294a0001c0001t0022g0204a0001c0001t0031g0314others(4): Show | 7 | 394 | 0.0178 | 5 | c.206 others(22): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALT1_chr9_33105642_33172336 | 33105880 | G | GTTTTT | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG00735.hp2 others(35): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0057others(34): Show | 38 | 366 | 0.1038 | 5 | c.*75 others(16): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 4761 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33152309 | A | AATAAC | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00609.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(36): Show | 43 | 366 | 0.1175 | 5 | c.412 others(24): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT2_chr1_43974210_43996168 | 43989320 | C | CAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00642.hp2 others(20): Show |
a0000a0001a0002 | a0000c0004a0001c0001a0002c0003 | a0000c0004t0001a0001c0001t0001a0002c0003t0003 | a0000c0004t0001g0208a0001c0001t0001g0023a0001c0001t0001g0058others(14): Show | 23 | 406 | 0.0567 | 5 | c.969 others(20): Show |
B4GALT2 | ENSG00000117411.18 | transcript | ENST00000372324.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
B4GALT4_chr3_119206742_119245878 | 119239325 | C | CAAAAA | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01433.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0024a0001c0001t0001g0110others(9): Show | 20 | 436 | 0.0459 | 5 | c.-36 others(24): Show |
B4GALT4 | ENSG00000121578.13 | transcript | ENST00000393765.7 | protein_coding | 1/7 | chr3 | TogoVar | ||||||
B4GALT5_chr20_49627945_49718878 | 49633437 | C | CTGTTT | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(125): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0001a0001c0002t0010a0001c0002t0013others(13): Show | a0001c0002t0001g0206a0001c0002t0001g0207a0001c0002t0001g0212others(125): Show | 128 | 364 | 0.3517 | 5 | c.*28 others(16): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 9/9 | 2874 | chr20 | TogoVar | |||||
B4GALT5_chr20_49627945_49718878 | 49710405 | C | CTCTTT | intron_variant | MODIFIER | HG01361.hp2 HG02451.hp1 HG02486.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0001t0018a0001c0001t0021others(3): Show | a0001c0001t0004g0186a0001c0001t0018g0102a0001c0001t0021g0185others(4): Show | 7 | 364 | 0.0192 | 5 | c.115 others(22): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | ||||||
B4GALT7_chr5_177595132_177615330 | 177598362 | T | TAAATA | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02723.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0029a0001c0005t0001g0078a0001c0005t0001g0079 | 5 | 458 | 0.0109 | 5 | c.-18 others(16): Show |
B4GALT7 | ENSG00000027847.14 | transcript | ENST00000029410.10 | protein_coding | 1769 | chr5 | TogoVar |