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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
B3GALT1_chr2_167288001_167879045 | 167387012 | CATCAT | C | intron_variant | MODIFIER | HG03453.hp1 NA18968.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0020 | a0001c0001t0001g0003 a0001c0001t0004g0014 a0001c0001t0020g0063 |
3 | 107 | 0.0280 | -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(28): Show | a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0062 others(66): Show |
69 | 82 | 0.8415 | -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 | a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0097 others(17): Show |
20 | 27 | 0.7407 | -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(24): Show | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0023 others(54): Show |
57 | 116 | 0.4914 | -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 | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0023 others(51): Show |
54 | 116 | 0.4655 | -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 | a0001c0001t0001g0043 a0001c0001t0002g0073 a0001c0001t0007g0042 others(5): Show |
8 | 21 | 0.3810 | -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 | a0001c0001t0001g0007 a0001c0001t0001g0043 a0001c0001t0001g0076 others(23): Show |
26 | 88 | 0.2955 | -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(20): Show | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0043 others(45): Show |
48 | 116 | 0.4138 | -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(14): Show | a0001c0001t0001g0007 a0001c0001t0001g0062 a0001c0001t0001g0076 others(26): Show |
29 | 116 | 0.2500 | -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 | a0001c0001t0013a0001c0001t0021a0001c0001t0022others(7): Show | a0001c0001t0013g0056 a0001c0001t0021g0035 a0001c0001t0022g0047 others(7): Show |
10 | 116 | 0.0862 | -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 | a0001c0001t0001g0015 a0001c0001t0001g0068 a0001c0001t0009g0096 others(1): Show |
4 | 116 | 0.0345 | -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 | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(1): Show | a0001c0001t0002g0010 a0001c0001t0002g0018 a0001c0001t0002g0073 others(4): Show |
7 | 116 | 0.0603 | -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 | a0001c0001t0001g0015 a0001c0001t0008g0080 a0001c0001t0017g0099 |
3 | 116 | 0.0259 | -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(9): Show | a0001c0001t0001g0015 a0001c0001t0001g0069 a0001c0001t0002g0049 others(12): Show |
15 | 116 | 0.1293 | -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 | a0001c0001t0002g0049 a0001c0001t0005g0101 a0001c0001t0008g0005 others(1): Show |
4 | 116 | 0.0345 | -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(16): Show | a0001c0001t0002g0094 a0001c0001t0003g0002 a0001c0001t0003g0027 others(37): Show |
40 | 116 | 0.3448 | -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 | a0001c0001t0002a0001c0001t0024 | a0001c0001t0002g0094 a0001c0001t0024g0004 |
2 | 116 | 0.0172 | -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 | a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0007g0000 others(2): Show |
147 | 362 | 0.4061 | -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 | a0002c0002t0019g0116 a0002c0002t0019g0288 a0002c0002t0019g0299 others(1): Show |
4 | 334 | 0.0120 | -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 | a0001c0001t0001g0061 a0001c0001t0010g0124 a0001c0001t0010g0158 others(13): Show |
16 | 314 | 0.0510 | -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 | a0001c0001t0003g0132 a0001c0001t0003g0139 a0001c0001t0004g0075 others(15): Show |
18 | 314 | 0.0573 | -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 | a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0020g0054 others(22): Show |
25 | 305 | 0.0820 | -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 | a0001c0001t0019g0025 a0001c0001t0055g0131 a0001c0002t0042g0253 |
3 | 301 | 0.0100 | -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 |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0007others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0045 others(133): Show |
138 | 266 | 0.5188 | -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(73): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0024a0002c0002t0001others(15): Show | a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 others(72): Show |
76 | 266 | 0.2857 | -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(59): Show |
a0002a0005 | a0002c0002a0002c0003a0002c0008others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(11): Show | a0002c0002t0001g0250 a0002c0002t0002g0018 a0002c0002t0002g0066 others(58): Show |
62 | 95 | 0.6526 | -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 |
a0001a0002a0003 | a0001c0001a0001c0013a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0024 others(105): Show |
109 | 144 | 0.7569 | -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(201): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0002g0005 a0001c0001t0002g0015 a0001c0001t0002g0017 others(160): Show |
204 | 404 | 0.5050 | -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 | a0001c0001t0001g0013 a0001c0001t0001g0055 a0001c0001t0001g0056 others(1): Show |
7 | 18 | 0.3889 | -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 | a0001c0001t0001g0185 a0001c0001t0002g0059 a0001c0001t0002g0134 others(26): Show |
30 | 252 | 0.1190 | -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 | a0001c0001t0002g0059 a0001c0001t0004g0246 a0001c0001t0004g0250 others(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 | a0001c0001t0002g0059 a0001c0001t0004g0246 a0001c0001t0004g0250 others(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 | a0001c0001t0001g0238 a0001c0001t0012g0156 a0001c0001t0034g0349 others(2): Show |
5 | 378 | 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 | a0001c0001t0008g0254 a0001c0004t0008g0263 a0001c0004t0008g0264 others(3): Show |
6 | 147 | 0.0408 | -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 | a0001c0001t0002g0126 a0001c0001t0002g0209 a0001c0001t0002g0294 others(27): Show |
30 | 391 | 0.0767 | -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 | a0001c0002t0004g0139 a0001c0002t0006g0138 a0001c0002t0006g0387 others(8): Show |
11 | 392 | 0.0281 | -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(83): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0002a0001c0030others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0015 a0001c0001t0001g0089 a0001c0001t0001g0110 others(83): Show |
86 | 392 | 0.2194 | -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 | a0001c0001t0074g0306 a0001c0002t0013g0175 a0004c0028t0004g0207 others(3): Show |
6 | 45 | 0.1333 | -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 | 524650 | AAAAAG | A | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00609.hp2 others(71): Show |
a0001a0002a0014others(3): Show | a0001c0001a0001c0002a0001c0010others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0034 a0001c0001t0001g0100 a0001c0001t0001g0112 others(71): Show |
74 | 392 | 0.1888 | -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 | 548907 | GCAAAA | G | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00642.hp2 others(60): Show |
a0002a0005a0013others(6): Show | a0002c0003a0002c0034a0002c0036others(10): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(43): Show | a0002c0003t0001g0058 a0002c0003t0001g0159 a0002c0003t0001g0249 others(60): Show |
63 | 392 | 0.1607 | -5 | c.853 others(20): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 554789 | CAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG01074.hp2 others(53): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0003a0002c0034others(14): Show | a0001c0001t0002a0002c0003t0004a0002c0003t0006others(39): Show | a0001c0001t0002g0126 a0002c0003t0004g0348 a0002c0003t0006g0046 others(53): Show |
56 | 247 | 0.2267 | -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 | 33137647 | CTTAGA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(149): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(142): Show |
152 | 364 | 0.4176 | -5 | c.413 others(22): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33152309 | AATAAC | A | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG00741.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(6): Show | a0001c0001t0001g0059 a0001c0001t0001g0094 a0001c0001t0001g0095 others(20): Show |
23 | 292 | 0.0788 | -5 | c.412 others(24): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
B4GALT4_chr3_119206742_119245878 | 119217842 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(62): Show |
a0002 | a0002c0002a0002c0008 | a0002c0002t0001a0002c0002t0009a0002c0008t0001 | a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0022 others(22): Show |
65 | 107 | 0.6075 | -5 | c.797 others(20): Show |
B4GALT4 | ENSG00000121578.13 | transcript | ENST00000393765.7 | protein_coding | 6/7 | chr3 | TogoVar | |||||||
B4GALT5_chr20_49627945_49718878 | 49650456 | TAAAAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(115): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0004a0001c0002t0001a0001c0002t0010others(16): Show | a0001c0001t0004g0115 a0001c0002t0001g0204 a0001c0002t0001g0205 others(115): Show |
118 | 189 | 0.6243 | -5 | c.251 others(22): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 2/8 | chr20 | TogoVar | |||||||
B4GALT5_chr20_49627945_49718878 | 49663691 | ATATAT | A | intron_variant | MODIFIER | HG01516.hp2 NA18939.hp1 NA18962.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0003a0001c0003t0011 | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0065 others(3): Show |
6 | 260 | 0.0231 | -5 | c.116 others(22): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
B4GALT5_chr20_49627945_49718878 | 49665434 | GTAGTA | G | intron_variant | MODIFIER | HG00735.hp2 HG01928.hp2 HG02027.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0025a0001c0001t0046others(2): Show | a0001c0001t0002g0051 a0001c0001t0002g0059 a0001c0001t0002g0066 others(5): Show |
8 | 349 | 0.0229 | -5 | c.116 others(22): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
B4GALT7_chr5_177595132_177615330 | 177598362 | TAAATA | T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(167): Show |
a0001a0004a0005 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(60): Show |
170 | 451 | 0.3769 | -5 | c.-18 others(16): Show |
B4GALT7 | ENSG00000027847.14 | transcript | ENST00000029410.10 | protein_coding | 1769 | chr5 | TogoVar | |||||||
BAALC_chr8_103135725_103235305 | 103155318 | CTAATG | C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp1 others(82): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0175 others(71): Show |
85 | 330 | 0.2576 | -5 | c.160 others(24): Show |
BAALC | ENSG00000164929.17 | transcript | ENST00000309982.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BAALC_chr8_103135725_103235305 | 103171424 | GAAAAT | G | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01433.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0002g0285 others(4): Show |
8 | 158 | 0.0506 | -5 | c.160 others(24): Show |
BAALC | ENSG00000164929.17 | transcript | ENST00000309982.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |