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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
B4GALNT2_chr17_49127769_49181840 | 49143839 | C | CTCT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(142): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(28): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(129): Show |
145 | 380 | 0.3816 | 3 | c.353 others(20): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
B4GALNT2_chr17_49127769_49181840 | 49162912 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(213): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(193): Show |
216 | 380 | 0.5684 | 3 | c.767 others(20): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
B4GALNT2_chr17_49127769_49181840 | 49177232 | T | TAAA | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02723.hp2 HG03195.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0056 | a0001c0001t0010g0012 a0001c0001t0010g0231 a0001c0001t0010g0244 others(2): Show |
6 | 380 | 0.0158 | 3 | c.*75 others(14): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 393 | chr17 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 474947 | C | CAAA | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp2 HG00738.hp2 others(36): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0010others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0034 others(36): Show |
39 | 394 | 0.0990 | 3 | c.169 others(22): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 500865 | C | CTTT | intron_variant | MODIFIER | HG01167.hp1 HG01496.hp1 HG02258.hp1 others(10): Show |
a0001a0003a0004others(4): Show | a0001c0001a0003c0004a0003c0048others(6): Show | a0001c0001t0001a0001c0001t0022a0001c0001t0087others(9): Show | a0001c0001t0001g0194 a0001c0001t0022g0036 a0001c0001t0022g0037 others(10): Show |
13 | 394 | 0.0330 | 3 | c.170 others(22): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 504118 | T | TAAA | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG01081.hp2 others(9): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0009a0001c0002t0004a0001c0002t0006others(5): Show | a0001c0001t0009g0386 a0001c0002t0004g0139 a0001c0002t0006g0137 others(9): Show |
12 | 394 | 0.0305 | 3 | c.170 others(22): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 504312 | C | CAAA | intron_variant | MODIFIER | HG00738.hp2 HG01106.hp2 HG01243.hp2 others(18): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(14): Show | a0001c0001t0001g0014 a0001c0001t0001g0261 a0001c0001t0004g0236 others(18): Show |
21 | 394 | 0.0533 | 3 | c.170 others(22): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 511308 | C | CCTT | intron_variant | MODIFIER | HG02056.hp1 HG02109.hp1 HG02559.hp2 others(3): Show |
a0001a0002a0005 | a0001c0013a0002c0003a0005c0006 | a0001c0013t0001a0001c0013t0020a0002c0003t0004others(3): Show | a0001c0013t0001g0128 a0001c0013t0020g0129 a0002c0003t0004g0250 others(3): Show |
6 | 394 | 0.0152 | 3 | c.170 others(22): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 511339 | T | TCTG | intron_variant | MODIFIER | HG02056.hp1 HG02109.hp1 HG02559.hp2 others(3): Show |
a0001a0002a0005 | a0001c0013a0002c0003a0005c0006 | a0001c0013t0001a0001c0013t0020a0002c0003t0004others(3): Show | a0001c0013t0001g0128 a0001c0013t0020g0129 a0002c0003t0004g0250 others(3): Show |
6 | 394 | 0.0152 | 3 | c.170 others(22): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 511704 | T | TCCA | intron_variant | MODIFIER | HG00735.hp2 HG02273.hp2 HG03540.hp2 |
a0001a0006a0008 | a0001c0001a0006c0007a0008c0012 | a0001c0001t0002a0006c0007t0047a0008c0012t0010 | a0001c0001t0002g0054 a0006c0007t0047g0167 a0008c0012t0010g0389 |
3 | 394 | 0.0076 | 3 | c.170 others(22): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 511729 | T | TCGA | intron_variant | MODIFIER | HG00423.hp2 HG01167.hp1 HG01496.hp1 others(9): Show |
a0001a0003a0005others(3): Show | a0001c0001a0003c0004a0005c0006others(3): Show | a0001c0001t0016a0001c0001t0017a0001c0001t0021others(8): Show | a0001c0001t0016g0179 a0001c0001t0017g0199 a0001c0001t0021g0349 others(9): Show |
12 | 394 | 0.0305 | 3 | c.170 others(22): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 512039 | T | TTCC | intron_variant | MODIFIER | NA18612.hp2 NA18959.hp1 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0023 | a0001c0001t0001g0351 a0001c0001t0003g0350 a0001c0001t0023g0102 |
3 | 394 | 0.0076 | 3 | c.170 others(22): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 512201 | C | CCTT | intron_variant | MODIFIER | HG02258.hp2 NA18612.hp1 NA18954.hp2 others(1): Show |
a0001a0005a0007 | a0001c0001a0005c0006a0007c0008 | a0001c0001t0001a0001c0001t0023a0005c0006t0003others(1): Show | a0001c0001t0001g0015 a0001c0001t0023g0102 a0005c0006t0003g0238 others(1): Show |
4 | 394 | 0.0102 | 3 | c.170 others(22): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 522941 | T | TAAA | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01255.hp1 others(14): Show |
a0001a0003a0007others(1): Show | a0001c0001a0003c0004a0007c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0330 a0001c0001t0001g0375 a0001c0001t0002g0042 others(14): Show |
17 | 394 | 0.0432 | 3 | c.170 others(22): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 567306 | A | AGAT | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02109.hp2 others(20): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0043a0003c0004others(12): Show | a0001c0001t0022a0001c0001t0031a0001c0043t0002others(18): Show | a0001c0001t0022g0204 a0001c0001t0031g0314 a0001c0043t0002g0203 others(20): Show |
23 | 394 | 0.0584 | 3 | c.*58 others(14): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 3798 | chr12 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33105880 | G | GTTT | downstream_gene_variant | MODIFIER | HG01069.hp1 HG03239.hp2 HG03471.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0069 a0001c0001t0003g0321 a0001c0001t0004g0301 others(3): Show |
6 | 366 | 0.0164 | 3 | c.*75 others(14): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 4761 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33108447 | T | TAAA | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00733.hp2 HG00738.hp2 others(55): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0004a0001c0001t0006a0001c0001t0016others(17): Show | a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0077 others(52): Show |
58 | 366 | 0.1585 | 3 | c.*50 others(14): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2194 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33116521 | C | CTTT | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG00642.hp1 others(103): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0006 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(18): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(98): Show |
106 | 366 | 0.2896 | 3 | c.837 others(18): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 3/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33148804 | T | TAAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00544.hp1 others(172): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0003c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0017 a0001c0001t0001g0198 a0001c0001t0001g0315 others(167): Show |
175 | 366 | 0.4781 | 3 | c.413 others(22): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33169968 | A | ATTT | upstream_gene_variant | MODIFIER | HG01257.hp1 HG02165.hp1 HG02258.hp2 others(15): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0008 | a0001c0001t0002a0001c0002t0006a0001c0002t0014others(4): Show | a0001c0001t0002g0281 a0001c0002t0006g0178 a0001c0002t0006g0179 others(15): Show |
18 | 366 | 0.0492 | 3 | c.-28 others(14): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2633 | chr9 | TogoVar | |||||||
B4GALT2_chr1_43974210_43996168 | 43978202 | T | TGAC | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00642.hp1 others(43): Show |
a0001a0002a0007 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0003others(2): Show | a0001c0001t0001g0056 a0001c0001t0001g0146 a0001c0001t0001g0211 others(22): Show |
46 | 406 | 0.1133 | 3 | c.-13 others(14): Show |
B4GALT2 | ENSG00000117411.18 | transcript | ENST00000372324.6 | protein_coding | 1007 | chr1 | TogoVar | |||||||
B4GALT2_chr1_43974210_43996168 | 43979336 | C | CGCG | 5_prime_UTR_variant | MODIFIER | HG01099.hp2 HG01106.hp2 HG01516.hp2 others(10): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0005a0001c0001t0008a0001c0005t0005 | a0001c0001t0005g0007 a0001c0001t0005g0020 a0001c0001t0005g0135 others(6): Show |
13 | 406 | 0.0320 | 3 | c.-20 others(12): Show |
B4GALT2 | ENSG00000117411.18 | transcript | ENST00000372324.6 | protein_coding | 1/7 | 1796 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
B4GALT2_chr1_43974210_43996168 | 43985441 | G | GGGA | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG01496.hp1 others(19): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(3): Show | a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0138 others(9): Show |
22 | 406 | 0.0542 | 3 | c.863 others(16): Show |
B4GALT2 | ENSG00000117411.18 | transcript | ENST00000372324.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
B4GALT2_chr1_43974210_43996168 | 43989320 | C | CAAA | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00741.hp2 others(64): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0017 others(37): Show |
67 | 406 | 0.1650 | 3 | c.969 others(18): Show |
B4GALT2 | ENSG00000117411.18 | transcript | ENST00000372324.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
B4GALT2_chr1_43974210_43996168 | 43993285 | G | GAAA | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01071.hp2 others(11): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0024 others(3): Show |
14 | 406 | 0.0345 | 3 | c.*28 others(14): Show |
B4GALT2 | ENSG00000117411.18 | transcript | ENST00000372324.6 | protein_coding | 2118 | chr1 | TogoVar | |||||||
B4GALT2_chr1_43974210_43996168 | 43994443 | T | TTTC | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG01515.hp1 others(17): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0179 a0001c0001t0001g0184 others(11): Show |
20 | 406 | 0.0493 | 3 | c.*39 others(14): Show |
B4GALT2 | ENSG00000117411.18 | transcript | ENST00000372324.6 | protein_coding | 3276 | chr1 | TogoVar | |||||||
B4GALT3_chr1_161166310_161182507 | 161167557 | C | CTTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01243.hp1 HG01433.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0002t0001a0002c0006t0001 | a0001c0001t0001g0005 a0001c0002t0001g0003 a0001c0002t0001g0014 others(1): Show |
24 | 374 | 0.0642 | 3 | c.*42 others(14): Show |
B4GALT3 | ENSG00000158850.15 | transcript | ENST00000319769.10 | protein_coding | 3752 | chr1 | TogoVar | |||||||
B4GALT4_chr3_119206742_119245878 | 119211164 | C | CAAA | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG01109.hp1 others(33): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0024 others(19): Show |
36 | 436 | 0.0826 | 3 | c.*13 others(14): Show |
B4GALT4 | ENSG00000121578.13 | transcript | ENST00000393765.7 | protein_coding | 577 | chr3 | TogoVar | |||||||
B4GALT4_chr3_119206742_119245878 | 119237272 | C | CCTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(175): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 others(99): Show |
178 | 436 | 0.4083 | 3 | c.-36 others(20): Show |
B4GALT4 | ENSG00000121578.13 | transcript | ENST00000393765.7 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
B4GALT4_chr3_119206742_119245878 | 119239325 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(133): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0014 a0001c0001t0001g0068 a0001c0001t0001g0095 others(66): Show |
136 | 436 | 0.3119 | 3 | c.-36 others(22): Show |
B4GALT4 | ENSG00000121578.13 | transcript | ENST00000393765.7 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
B4GALT4_chr3_119206742_119245878 | 119243676 | T | TAAA | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01256.hp2 HG01258.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0037 others(17): Show |
28 | 436 | 0.0642 | 3 | c.-31 others(14): Show |
B4GALT4 | ENSG00000121578.13 | transcript | ENST00000393765.7 | protein_coding | 2799 | chr3 | TogoVar | |||||||
B4GALT5_chr20_49627945_49718878 | 49638946 | T | TATA | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(141): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0006a0001c0001t0008a0001c0001t0033others(18): Show | a0001c0001t0006g0175 a0001c0001t0006g0176 a0001c0001t0006g0177 others(141): Show |
144 | 364 | 0.3956 | 3 | c.917 others(18): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 7/8 | chr20 | TogoVar | |||||||
B4GALT5_chr20_49627945_49718878 | 49663683 | A | AAAG | intron_variant | MODIFIER | HG01106.hp2 HG02145.hp1 HG02145.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0012a0001c0001t0022a0001c0001t0043others(5): Show | a0001c0001t0012g0093 a0001c0001t0012g0094 a0001c0001t0012g0095 others(13): Show |
16 | 364 | 0.0440 | 3 | c.116 others(20): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
B4GALT5_chr20_49627945_49718878 | 49665433 | G | GGTA | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00621.hp2 others(21): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0017a0002c0004t0005a0002c0004t0014others(1): Show | a0001c0002t0017g0249 a0001c0002t0017g0250 a0001c0002t0017g0330 others(21): Show |
24 | 364 | 0.0659 | 3 | c.116 others(20): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
B4GALT5_chr20_49627945_49718878 | 49681216 | T | TAAA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(55): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0020others(11): Show | a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 others(55): Show |
58 | 364 | 0.1593 | 3 | c.116 others(22): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
B4GALT5_chr20_49627945_49718878 | 49686728 | C | CAAA | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG01243.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0004a0001c0001t0022a0001c0001t0027others(2): Show | a0001c0001t0004g0181 a0001c0001t0022g0099 a0001c0001t0027g0101 others(8): Show |
11 | 364 | 0.0302 | 3 | c.115 others(22): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
B4GALT5_chr20_49627945_49718878 | 49710405 | C | CTCT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(140): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(23): Show | a0001c0001t0004g0292 a0001c0001t0006g0176 a0001c0001t0006g0177 others(140): Show |
143 | 364 | 0.3929 | 3 | c.115 others(20): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
B4GALT6_chr18_31617246_31689581 | 31618069 | C | CTTT | downstream_gene_variant | MODIFIER | HG01099.hp2 HG01496.hp1 HG02132.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 a0001c0001t0004g0011 a0001c0001t0004g0100 others(5): Show |
12 | 306 | 0.0392 | 3 | c.*75 others(14): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 4176 | chr18 | TogoVar | |||||||
B4GALT6_chr18_31617246_31689581 | 31629447 | A | ATTT | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00544.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0113 a0001c0001t0002g0013 a0001c0001t0002g0032 others(17): Show |
22 | 306 | 0.0719 | 3 | c.776 others(20): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 6/8 | chr18 | TogoVar | |||||||
B4GALT7_chr5_177595132_177615330 | 177597409 | C | CAAA | upstream_gene_variant | MODIFIER | HG02040.hp2 HG02083.hp2 HG03516.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(11): Show |
20 | 458 | 0.0437 | 3 | c.-28 others(14): Show |
B4GALT7 | ENSG00000027847.14 | transcript | ENST00000029410.10 | protein_coding | 2722 | chr5 | TogoVar | |||||||
B9D1_chr17_19338175_19367723 | 19340033 | A | ACCC | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00558.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(8): Show |
16 | 354 | 0.0452 | 3 | c.*32 others(14): Show |
B9D1 | ENSG00000108641.20 | transcript | ENST00000261499.11 | protein_coding | 3141 | chr17 | TogoVar | |||||||
B9D1_chr17_19338175_19367723 | 19352514 | A | ATTT | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp2 HG00621.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0008 a0001c0001t0001g0062 a0001c0001t0001g0067 others(7): Show |
18 | 354 | 0.0509 | 3 | c.245 others(20): Show |
B9D1 | ENSG00000108641.20 | transcript | ENST00000261499.11 | protein_coding | 3/6 | chr17 | TogoVar | |||||||
B9D2_chr19_41349417_41369149 | 41355432 | C | CCCT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(215): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(78): Show |
218 | 360 | 0.6056 | 3 | c.215 others(18): Show |
B9D2 | ENSG00000123810.9 | transcript | ENST00000243578.8 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
BAALC_chr8_103135725_103235305 | 103174260 | C | CAAA | intron_variant | MODIFIER | HG00140.hp1 HG01255.hp1 HG01496.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0281 a0001c0001t0002g0207 a0001c0001t0002g0217 others(5): Show |
9 | 332 | 0.0271 | 3 | c.160 others(22): Show |
BAALC | ENSG00000164929.17 | transcript | ENST00000309982.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BAALC_chr8_103135725_103235305 | 103179263 | T | TTAG | intron_variant | MODIFIER | HG02109.hp2 HG02895.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0002g0008 a0001c0001t0002g0034 a0001c0001t0006g0033 others(2): Show |
6 | 332 | 0.0181 | 3 | c.161 others(22): Show |
BAALC | ENSG00000164929.17 | transcript | ENST00000309982.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28040294 | C | CTTT | intron_variant | MODIFIER | HG00733.hp1 HG00741.hp2 HG01069.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0125 a0001c0001t0001g0143 a0001c0001t0001g0146 others(16): Show |
19 | 158 | 0.1203 | 3 | c.496 others(20): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28109184 | C | CTTT | intron_variant | MODIFIER | HG00733.hp2 HG01167.hp2 HG02280.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0002g0108 others(5): Show |
8 | 158 | 0.0506 | 3 | c.571 others(22): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28142060 | C | CTGT | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG00735.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0040 a0001c0001t0001g0052 others(20): Show |
23 | 158 | 0.1456 | 3 | c.680 others(22): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28176569 | C | CAAA | intron_variant | MODIFIER | HG01168.hp2 HG01346.hp1 HG02165.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0002g0006 others(4): Show |
7 | 158 | 0.0443 | 3 | c.680 others(22): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28184285 | T | TCCC | intron_variant | MODIFIER | HG00738.hp2 HG01433.hp2 HG01934.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 others(23): Show |
26 | 158 | 0.1646 | 3 | c.681 others(22): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |