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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AZIN1_chr8_102821308_102869163 | 102867217 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00642.hp1 others(53): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0002g0016a0001c0001t0002g0219a0001c0001t0002g0220others(41): Show | 56 | 380 | 0.1474 | -5 | c.-36 others(16): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 3055 | chr8 | TogoVar | ||||||
AZIN2_chr1_33076153_33128492 | 33107836 | TAAATG | T | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01243.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0030a0001c0001t0001g0140others(9): Show | 15 | 322 | 0.0466 | -5 | c.102 others(24): Show |
AZIN2 | ENSG00000142920.18 | transcript | ENST00000294517.11 | protein_coding | 10/11 | chr1 | TogoVar | ||||||
AZIN2_chr1_33076153_33128492 | 33125733 | CCCTTT | C | downstream_gene_variant | MODIFIER | HG02630.hp1 HG02647.hp2 HG02723.hp2 others(3): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0009a0001c0001t0021a0005c0005t0009 | a0001c0001t0009g0221a0001c0001t0009g0222a0001c0001t0021g0223others(2): Show | 6 | 322 | 0.0186 | -5 | c.*55 others(16): Show |
AZIN2 | ENSG00000142920.18 | transcript | ENST00000294517.11 | protein_coding | 2242 | chr1 | TogoVar | ||||||
B3GALNT1_chr3_161078883_161110349 | 161103402 | ATAAGT | A | intron_variant | MODIFIER | HG02257.hp2 HG02615.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057a0001c0001t0002g0109a0001c0001t0002g0110 | 3 | 400 | 0.0075 | -5 | c.-13 others(20): Show |
B3GALNT1 | ENSG00000169255.15 | transcript | ENST00000320474.10 | protein_coding | 3/4 | chr3 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235474970 | TATATA | T | intron_variant | MODIFIER | HG02027.hp1 HG02148.hp1 NA18956.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022a0001c0001t0002g0029a0001c0001t0002g0039others(3): Show | 6 | 344 | 0.0174 | -5 | c.652 others(22): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167289559 | TTCTTG | T | upstream_gene_variant | MODIFIER | HG02040.hp1 NA18612.hp2 NA18948.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(1): Show | a0001c0001t0001g0015a0001c0001t0004g0013a0001c0001t0004g0014others(2): Show | 5 | 118 | 0.0424 | -5 | c.-42 others(16): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3441 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167289624 | TTATAA | T | upstream_gene_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.-42 others(16): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3376 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167289716 | GTTATA | G | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02922.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0010a0001c0001t0018others(2): Show | a0001c0001t0002g0094a0001c0001t0010g0092a0001c0001t0018g0093others(2): Show | 5 | 118 | 0.0424 | -5 | c.-41 others(16): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3284 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167344453 | GAATTA | G | intron_variant | MODIFIER | HG02896.hp1 HG03453.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015a0001c0001t0028 | a0001c0001t0001g0003a0001c0001t0015g0079a0001c0001t0028g0056 | 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 | 167370213 | GAGTTT | G | 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 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167374799 | TTACTC | T | 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 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167382287 | CTAAGT | C | 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 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167387012 | CATCAT | C | intron_variant | MODIFIER | HG03453.hp1 NA18968.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0020 | a0001c0001t0001g0003a0001c0001t0004g0014a0001c0001t0020g0063 | 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 | 167410490 | CAAAAA | C | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp2 others(66): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0015a0001c0001t0001g0046a0001c0001t0001g0062others(66): Show | 69 | 118 | 0.5848 | -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 | 167411378 | CAAAAA | C | intron_variant | MODIFIER | HG01261.hp2 HG01346.hp2 HG01891.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0007a0001c0001t0001g0023a0001c0001t0001g0097others(17): Show | 20 | 118 | 0.1695 | -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 | 167502567 | GGAGGC | G | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG00738.hp1 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0023others(54): Show | 57 | 118 | 0.4831 | -5 | c.-41 others(26): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167519408 | CAATTA | C | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG00738.hp1 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0023others(51): Show | 54 | 118 | 0.4576 | -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 | CTTTTT | C | intron_variant | MODIFIER | HG01255.hp1 HG01496.hp1 HG02615.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0043a0001c0001t0002g0073a0001c0001t0007g0042others(5): Show | 8 | 118 | 0.0678 | -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 | 167547693 | CAAAAA | C | intron_variant | MODIFIER | HG00673.hp2 HG01106.hp2 HG01255.hp1 others(23): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0007a0001c0001t0001g0043a0001c0001t0001g0076others(23): Show | 26 | 118 | 0.2203 | -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 | 167566563 | CAAAAT | C | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0015a0001c0001t0001g0023a0001c0001t0001g0043others(45): Show | 48 | 118 | 0.4068 | -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 | 167577830 | TTAACC | T | intron_variant | MODIFIER | HG00741.hp1 HG01106.hp2 HG01255.hp1 others(26): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0007a0001c0001t0001g0062a0001c0001t0001g0076others(26): Show | 29 | 118 | 0.2458 | -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 | 167608544 | TATAAC | T | intron_variant | MODIFIER | HG01169.hp2 HG01255.hp1 HG01496.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0021a0001c0001t0022a0001c0001t0023others(7): Show | a0001c0001t0021g0035a0001c0001t0022g0047a0001c0001t0023g0037others(7): Show | 10 | 118 | 0.0848 | -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 | 167615744 | TATGTA | T | intron_variant | MODIFIER | HG00673.hp1 HG02132.hp2 NA18953.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0019 | a0001c0001t0001g0015a0001c0001t0001g0068a0001c0001t0009g0096others(1): Show | 4 | 118 | 0.0339 | -5 | c.-40 others(26): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167623183 | TAACTC | T | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02258.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(1): Show | a0001c0001t0002g0010a0001c0001t0002g0018a0001c0001t0002g0073others(4): Show | 7 | 118 | 0.0593 | -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 | 167793535 | AATGAT | A | intron_variant | MODIFIER | HG01081.hp2 HG02886.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0017 | a0001c0001t0001g0015a0001c0001t0008g0080a0001c0001t0017g0099 | 3 | 118 | 0.0254 | -5 | c.-35 others(26): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167793607 | AAAAGT | A | intron_variant | MODIFIER | HG01081.hp2 HG01169.hp2 HG01261.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0015a0001c0001t0002g0049a0001c0001t0003g0002others(12): Show | 15 | 118 | 0.1271 | -5 | c.-35 others(26): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167797700 | ATTTTG | A | intron_variant | MODIFIER | HG01891.hp1 HG02647.hp1 HG02683.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0002g0049a0001c0001t0005g0101a0001c0001t0008g0005others(1): Show | 4 | 118 | 0.0339 | -5 | c.-35 others(26): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167822305 | GCTAAA | G | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG00738.hp1 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0094a0001c0001t0003g0002a0001c0001t0003g0027others(37): Show | 40 | 118 | 0.3390 | -5 | c.-23 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167822803 | CCTTCT | C | intron_variant | MODIFIER | HG02257.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0025 | a0001c0001t0002g0094a0001c0001t0025g0004 | 2 | 118 | 0.0170 | -5 | c.-23 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
B3GALT4_chr6_33272123_33283825 | 33281840 | CCTTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(144): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0000a0001c0001t0004g0000a0001c0001t0007g0000others(2): Show | 147 | 363 | 0.4050 | -5 | c.*32 others(16): Show |
B3GALT4 | ENSG00000235863.4 | transcript | ENST00000451237.3 | protein_coding | 3016 | chr6 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39663438 | TTCCCC | T | 3_prime_UTR_variant | MODIFIER | HG02486.hp1 HG02818.hp1 HG03139.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0019a0002c0002t0079 | a0002c0002t0019g0114a0002c0002t0019g0299a0002c0002t0019g0309others(1): Show | 4 | 336 | 0.0119 | -5 | c.*19 others(16): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 4/4 | 1966 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
B3GAT2_chr6_70851679_70962060 | 70871217 | TTTTTG | T | intron_variant | MODIFIER | HG00408.hp2 HG01074.hp1 HG02027.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0019others(5): Show | a0001c0001t0001g0060a0001c0001t0010g0122a0001c0001t0010g0157others(13): Show | 16 | 316 | 0.0506 | -5 | c.737 others(22): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 2/3 | chr6 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70897667 | AAAAAT | A | intron_variant | MODIFIER | HG01069.hp1 HG02559.hp1 HG02572.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0025others(7): Show | a0001c0001t0003g0129a0001c0001t0003g0135a0001c0001t0004g0074others(15): Show | 18 | 316 | 0.0570 | -5 | c.592 others(22): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70897669 | AAATAT | A | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp2 HG01099.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0020a0001c0001t0023others(15): Show | a0001c0001t0003g0099a0001c0001t0003g0100a0001c0001t0020g0053others(22): Show | 25 | 316 | 0.0791 | -5 | c.592 others(22): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70897671 | ATATAT | A | intron_variant | MODIFIER | HG03195.hp1 HG03453.hp1 NA18945.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0001t0055a0001c0002t0042 | a0001c0001t0019g0019a0001c0001t0055g0128a0001c0002t0042g0254 | 3 | 316 | 0.0095 | -5 | c.592 others(22): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31246533 | AAAAGT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00558.hp1 others(135): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0007others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0001g0014a0001c0001t0001g0043a0001c0001t0001g0051others(135): Show | 138 | 268 | 0.5149 | -5 | c.271 others(20): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
B3GLCT_chr13_31194975_31337276 | 31273502 | AATTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00621.hp1 others(74): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0024a0002c0002t0001others(15): Show | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0001t0001g0121others(73): Show | 77 | 268 | 0.2873 | -5 | c.661 others(22): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
B3GLCT_chr13_31194975_31337276 | 31285604 | TAAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00621.hp1 others(60): Show |
a0002a0005 | a0002c0002a0002c0003a0002c0008others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(11): Show | a0002c0002t0001g0252a0002c0002t0002g0017a0002c0002t0002g0064others(59): Show | 63 | 268 | 0.2351 | -5 | c.964 others(20): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
B3GLCT_chr13_31194975_31337276 | 31333167 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(106): Show |
a0001a0002a0004 | a0001c0001a0001c0013a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(12): Show | a0001c0001t0001g0014a0001c0001t0001g0022a0001c0001t0001g0043others(105): Show | 109 | 268 | 0.4067 | -5 | c.*35 others(16): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 892 | chr13 | TogoVar | ||||||
B3GNT3_chr19_17790138_17818576 | 17815457 | TGAGCC | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(202): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0002g0005a0001c0001t0002g0014a0001c0001t0002g0034others(165): Show | 205 | 406 | 0.5049 | -5 | c.*33 others(16): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 1882 | chr19 | TogoVar | ||||||
B3GNT5_chr3_183248253_183278385 | 183257958 | CTTTTT | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02055.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0013a0001c0001t0001g0055a0001c0001t0001g0056others(1): Show | 7 | 390 | 0.0180 | -5 | c.-30 others(24): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
B3GNTL1_chr17_82937149_83056770 | 82977499 | ACTTTT | A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01243.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0186a0001c0001t0002g0058a0001c0001t0002g0133others(26): Show | 30 | 266 | 0.1128 | -5 | c.460 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82984142 | GGGGGA | G | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01257.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0014others(8): Show | a0001c0001t0002g0058a0001c0001t0004g0242a0001c0001t0004g0247others(14): Show | 18 | 266 | 0.0677 | -5 | c.460 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82984212 | AGGACG | A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01257.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0014others(8): Show | a0001c0001t0002g0058a0001c0001t0004g0242a0001c0001t0004g0247others(14): Show | 18 | 266 | 0.0677 | -5 | c.460 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B4GALNT2_chr17_49127769_49181840 | 49133945 | ACAAAC | A | intron_variant | MODIFIER | HG01358.hp2 HG01884.hp1 HG02895.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0012a0001c0001t0034others(1): Show | a0001c0001t0001g0239a0001c0001t0012g0157a0001c0001t0034g0351others(2): Show | 5 | 380 | 0.0132 | -5 | c.14+ others(20): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 1/10 | chr17 | TogoVar | ||||||
B4GALNT2_chr17_49127769_49181840 | 49159334 | GTTTGT | G | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0008a0001c0004t0008a0001c0004t0020others(2): Show | a0001c0001t0008g0255a0001c0004t0008g0264a0001c0004t0008g0265others(3): Show | 6 | 380 | 0.0158 | -5 | c.679 others(20): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 470735 | CTGTTT | C | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(27): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0013others(8): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0013others(23): Show | a0001c0001t0002g0126a0001c0001t0002g0209a0001c0001t0002g0294others(27): Show | 30 | 394 | 0.0761 | -5 | c.169 others(24): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 496903 | GGTCTT | G | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG01081.hp2 others(8): Show |
a0001a0003a0005others(1): Show | a0001c0002a0003c0004a0005c0006others(1): Show | a0001c0002t0004a0001c0002t0006a0001c0002t0036others(4): Show | a0001c0002t0004g0139a0001c0002t0006g0137a0001c0002t0006g0387others(8): Show | 11 | 394 | 0.0279 | -5 | c.169 others(24): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 503754 | TGAACA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(84): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0002a0001c0030others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0015a0001c0001t0001g0089a0001c0001t0001g0110others(84): Show | 87 | 394 | 0.2208 | -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 | 511013 | CTTTTT | C | intron_variant | MODIFIER | HG02622.hp2 HG02647.hp2 HG02886.hp2 others(3): Show |
a0001a0004a0007others(1): Show | a0001c0001a0001c0002a0004c0028others(2): Show | a0001c0001t0074a0001c0002t0013a0004c0028t0004others(3): Show | a0001c0001t0074g0306a0001c0002t0013g0175a0004c0028t0004g0207others(3): Show | 6 | 394 | 0.0152 | -5 | c.170 others(24): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |