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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
B3GNT4_chr12_122198709_122213952 | 122207370 | C | T | synonymous_variant | LOW | NA18952.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0002 | 1 | 412 | 0.0024 | 0 | c.111 others(4): Show |
p.Gly others(6): Show |
B3GNT4 | ENSG00000176383.9 | transcript | ENST00000324189.5 | protein_coding | 3/3 | 1309/2891 | 1119/1137 | 373/378 | chr12 | TogoVar | ||
B3GNT6_chr11_77029398_77046973 | 77039591 | C | T | synonymous_variant | LOW | HG04115.hp1 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0002 | 1 | 442 | 0.0023 | 0 | c.40C others(2): Show |
p.Leu others(5): Show |
B3GNT6 | ENSG00000198488.10 | transcript | ENST00000622824.1 | protein_coding | 2/2 | 121/2503 | 40/1155 | 14/384 | chr11 | TogoVar | ||
B3GNT6_chr11_77029398_77046973 | 77040148 | C | G | synonymous_variant | LOW | NA18979.hp2 | a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0003 | 1 | 442 | 0.0023 | 0 | c.597 others(3): Show |
p.Leu others(6): Show |
B3GNT6 | ENSG00000198488.10 | transcript | ENST00000622824.1 | protein_coding | 2/2 | 678/2503 | 597/1155 | 199/384 | chr11 | TogoVar | ||
B3GNT6_chr11_77029398_77046973 | 77040512 | C | T | synonymous_variant | LOW | HG01167.hp2 | a0001 | a0001c0010 | a0001c0010t0033 | a0001c0010t0033g0013 | 1 | 442 | 0.0023 | 0 | c.961 others(3): Show |
p.Leu others(6): Show |
B3GNT6 | ENSG00000198488.10 | transcript | ENST00000622824.1 | protein_coding | 2/2 | 1042/2503 | 961/1155 | 321/384 | chr11 | TogoVar | ||
B3GNT6_chr11_77029398_77046973 | 77040541 | A | G | synonymous_variant | LOW | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(325): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(87): Show | 328 | 442 | 0.7421 | 0 | c.990 others(3): Show |
p.Arg others(6): Show |
B3GNT6 | ENSG00000198488.10 | transcript | ENST00000622824.1 | protein_coding | 2/2 | 1071/2503 | 990/1155 | 330/384 | chr11 | TogoVar | ||
B3GNT6_chr11_77029398_77046973 | 77040616 | G | T | synonymous_variant | LOW | NA21309.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0002 | 1 | 442 | 0.0023 | 0 | c.106 others(4): Show |
p.Val others(6): Show |
B3GNT6 | ENSG00000198488.10 | transcript | ENST00000622824.1 | protein_coding | 2/2 | 1146/2503 | 1065/1155 | 355/384 | chr11 | TogoVar | ||
B3GNT7_chr2_231390710_231406164 | 231397764 | C | T | synonymous_variant | LOW | HG00099.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0002 | 1 | 426 | 0.0024 | 0 | c.45C others(2): Show |
p.Ala others(5): Show |
B3GNT7 | ENSG00000156966.7 | transcript | ENST00000287590.6 | protein_coding | 2/2 | 139/3539 | 45/1206 | 15/401 | chr2 | TogoVar | ||
B3GNT7_chr2_231390710_231406164 | 231398319 | C | T | synonymous_variant | LOW | HG02572.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0001 | 1 | 426 | 0.0024 | 0 | c.600 others(3): Show |
p.Tyr others(6): Show |
B3GNT7 | ENSG00000156966.7 | transcript | ENST00000287590.6 | protein_coding | 2/2 | 694/3539 | 600/1206 | 200/401 | chr2 | TogoVar | ||
B3GNT7_chr2_231390710_231406164 | 231398607 | G | A | synonymous_variant | LOW | HG03710.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0001 | 1 | 426 | 0.0024 | 0 | c.888 others(3): Show |
p.Pro others(6): Show |
B3GNT7 | ENSG00000156966.7 | transcript | ENST00000287590.6 | protein_coding | 2/2 | 982/3539 | 888/1206 | 296/401 | chr2 | TogoVar | ||
B3GNT7_chr2_231390710_231406164 | 231398865 | C | G | synonymous_variant | LOW | HG02809.hp1 HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0001 | 3 | 426 | 0.0070 | 0 | c.114 others(4): Show |
p.Leu others(6): Show |
B3GNT7 | ENSG00000156966.7 | transcript | ENST00000287590.6 | protein_coding | 2/2 | 1240/3539 | 1146/1206 | 382/401 | chr2 | TogoVar | ||
B3GNT8_chr19_41420359_41432374 | 41425624 | C | A | synonymous_variant | LOW | NA18964.hp2 | a0007 | a0007c0017 | a0007c0017t0008 | a0007c0017t0008g0028 | 1 | 420 | 0.0024 | 0 | c.115 others(4): Show |
p.Arg others(6): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 2/2 | 1278/1543 | 1155/1194 | 385/397 | chr19 | TogoVar | ||
B3GNT8_chr19_41420359_41432374 | 41425648 | G | A | synonymous_variant | LOW | NA18964.hp2 | a0007 | a0007c0017 | a0007c0017t0008 | a0007c0017t0008g0028 | 1 | 420 | 0.0024 | 0 | c.113 others(4): Show |
p.Pro others(6): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 2/2 | 1254/1543 | 1131/1194 | 377/397 | chr19 | TogoVar | ||
B3GNT8_chr19_41420359_41432374 | 41425651 | C | G | synonymous_variant | LOW | NA18964.hp2 | a0007 | a0007c0017 | a0007c0017t0008 | a0007c0017t0008g0028 | 1 | 420 | 0.0024 | 0 | c.112 others(4): Show |
p.Arg others(6): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 2/2 | 1251/1543 | 1128/1194 | 376/397 | chr19 | TogoVar | ||
B3GNT8_chr19_41420359_41432374 | 41425755 | G | T | synonymous_variant | LOW | HG01261.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0023 | 1 | 420 | 0.0024 | 0 | c.102 others(4): Show |
p.Arg others(6): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 2/2 | 1147/1543 | 1024/1194 | 342/397 | chr19 | TogoVar | ||
B3GNT8_chr19_41420359_41432374 | 41425810 | C | T | synonymous_variant | LOW | NA20905.hp1 | a0002 | a0002c0018 | a0002c0018t0002 | a0002c0018t0002g0029 | 1 | 420 | 0.0024 | 0 | c.969 others(3): Show |
p.Ala others(6): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 2/2 | 1092/1543 | 969/1194 | 323/397 | chr19 | TogoVar | ||
B3GNT8_chr19_41420359_41432374 | 41425849 | G | A | synonymous_variant | LOW | HG00673.hp1 HG02132.hp1 NA18960.hp2 others(10): Show |
a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0004 | 13 | 420 | 0.0310 | 0 | c.930 others(3): Show |
p.Tyr others(6): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 2/2 | 1053/1543 | 930/1194 | 310/397 | chr19 | TogoVar | ||
B3GNT8_chr19_41420359_41432374 | 41426158 | A | G | synonymous_variant | LOW | HG00323.hp1 HG00738.hp2 HG01074.hp2 others(12): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0003a0001c0004t0001g0022 | 15 | 420 | 0.0357 | 0 | c.621 others(3): Show |
p.Ser others(6): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 2/2 | 744/1543 | 621/1194 | 207/397 | chr19 | TogoVar | ||
B3GNT8_chr19_41420359_41432374 | 41426179 | G | T | synonymous_variant | LOW | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(206): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0032others(11): Show | 209 | 420 | 0.4976 | 0 | c.600 others(3): Show |
p.Ala others(6): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 2/2 | 723/1543 | 600/1194 | 200/397 | chr19 | TogoVar | ||
B3GNT8_chr19_41420359_41432374 | 41426215 | C | T | synonymous_variant | LOW | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(206): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0032others(10): Show | 209 | 420 | 0.4976 | 0 | c.564 others(3): Show |
p.Val others(6): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 2/2 | 687/1543 | 564/1194 | 188/397 | chr19 | TogoVar | ||
B3GNT8_chr19_41420359_41432374 | 41426386 | C | T | synonymous_variant | LOW | HG01167.hp2 HG01169.hp1 HG02300.hp1 |
a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0013 | 3 | 420 | 0.0071 | 0 | c.393 others(3): Show |
p.Leu others(6): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 2/2 | 516/1543 | 393/1194 | 131/397 | chr19 | TogoVar | ||
B3GNT8_chr19_41420359_41432374 | 41426503 | C | T | synonymous_variant | LOW | NA18964.hp2 | a0007 | a0007c0017 | a0007c0017t0008 | a0007c0017t0008g0028 | 1 | 420 | 0.0024 | 0 | c.276 others(3): Show |
p.Gly others(5): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 2/2 | 399/1543 | 276/1194 | 92/397 | chr19 | TogoVar | ||
B3GNT8_chr19_41420359_41432374 | 41426554 | C | T | synonymous_variant | LOW | HG02055.hp1 HG02559.hp2 HG02622.hp2 others(2): Show |
a0001a0003 | a0001c0010a0003c0008 | a0001c0010t0001a0003c0008t0001 | a0001c0010t0001g0015a0003c0008t0001g0012 | 5 | 420 | 0.0119 | 0 | c.225 others(3): Show |
p.Gln others(5): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 2/2 | 348/1543 | 225/1194 | 75/397 | chr19 | TogoVar | ||
B3GNT8_chr19_41420359_41432374 | 41426707 | C | T | synonymous_variant | LOW | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(239): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0032others(21): Show | 242 | 420 | 0.5762 | 0 | c.72G others(2): Show |
p.Glu others(5): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 2/2 | 195/1543 | 72/1194 | 24/397 | chr19 | TogoVar | ||
B3GNT9_chr16_67143104_67155998 | 67149475 | G | T | synonymous_variant | LOW | HG02257.hp2 HG03139.hp1 HG03540.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0003 | 3 | 342 | 0.0088 | 0 | c.101 others(4): Show |
p.Arg others(6): Show |
B3GNT9 | ENSG00000237172.4 | transcript | ENST00000449549.4 | protein_coding | 2/2 | 1331/2702 | 1011/1209 | 337/402 | chr16 | TogoVar | ||
B3GNT9_chr16_67143104_67155998 | 67149676 | C | T | synonymous_variant | LOW | HG02818.hp2 HG03516.hp1 NA18522.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0015a0001c0002t0005g0005 | 3 | 342 | 0.0088 | 0 | c.810 others(3): Show |
p.Lys others(6): Show |
B3GNT9 | ENSG00000237172.4 | transcript | ENST00000449549.4 | protein_coding | 2/2 | 1130/2702 | 810/1209 | 270/402 | chr16 | TogoVar | ||
B3GNT9_chr16_67143104_67155998 | 67149775 | T | G | synonymous_variant | LOW | NA18960.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0019 | 1 | 342 | 0.0029 | 0 | c.711 others(3): Show |
p.Gly others(6): Show |
B3GNT9 | ENSG00000237172.4 | transcript | ENST00000449549.4 | protein_coding | 2/2 | 1031/2702 | 711/1209 | 237/402 | chr16 | TogoVar | ||
B3GNT9_chr16_67143104_67155998 | 67150084 | G | A | synonymous_variant | LOW | HG02622.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0020 | 1 | 342 | 0.0029 | 0 | c.402 others(3): Show |
p.Ala others(6): Show |
B3GNT9 | ENSG00000237172.4 | transcript | ENST00000449549.4 | protein_coding | 2/2 | 722/2702 | 402/1209 | 134/402 | chr16 | TogoVar | ||
B3GNTL1_chr17_82937149_83056770 | 82956724 | G | T | synonymous_variant | LOW | HG01074.hp1 HG02976.hp2 HG03195.hp2 others(2): Show |
a0003 | a0003c0021a0003c0023a0003c0024others(2): Show | a0003c0021t0035a0003c0023t0011a0003c0024t0010others(2): Show | a0003c0021t0035g0187a0003c0023t0011g0019a0003c0024t0010g0151others(2): Show | 5 | 266 | 0.0188 | 0 | c.931 others(3): Show |
p.Arg others(6): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 11/13 | 950/2985 | 931/1041 | 311/346 | chr17 | TogoVar | ||
B3GNTL1_chr17_82937149_83056770 | 82957382 | A | G | synonymous_variant | LOW | HG02155.hp1 NA18612.hp2 NA18973.hp1 |
a0001 | a0001c0016a0001c0020 | a0001c0016t0001a0001c0020t0005 | a0001c0016t0001g0008a0001c0016t0001g0009a0001c0020t0005g0218 | 3 | 266 | 0.0113 | 0 | c.793 others(3): Show |
p.Leu others(6): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 9/13 | 812/2985 | 793/1041 | 265/346 | chr17 | TogoVar | ||
B3GNTL1_chr17_82937149_83056770 | 82965660 | C | T | synonymous_variant | LOW | HG00423.hp2 HG00621.hp1 HG00673.hp2 others(55): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0007a0001c0008others(7): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0010others(19): Show | a0001c0004t0001g0002a0001c0004t0001g0021a0001c0004t0001g0025others(52): Show | 58 | 266 | 0.2181 | 0 | c.546 others(3): Show |
p.Glu others(6): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 7/13 | 565/2985 | 546/1041 | 182/346 | chr17 | TogoVar | ||
B3GNTL1_chr17_82937149_83056770 | 83035056 | A | C | synonymous_variant | LOW | HG00408.hp2 HG00597.hp1 HG00609.hp1 others(38): Show |
a0001a0002 | a0001c0004a0001c0006a0001c0016others(2): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0010others(14): Show | a0001c0004t0001g0002a0001c0004t0001g0021a0001c0004t0001g0025others(37): Show | 41 | 266 | 0.1541 | 0 | c.276 others(3): Show |
p.Ser others(5): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/13 | 295/2985 | 276/1041 | 92/346 | chr17 | TogoVar | ||
B3GNTL1_chr17_82937149_83056770 | 83048511 | G | A | synonymous_variant | LOW | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(78): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0011a0001c0012others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(23): Show | a0001c0002t0001g0089a0001c0002t0001g0114a0001c0002t0001g0116others(78): Show | 81 | 266 | 0.3045 | 0 | c.192 others(3): Show |
p.His others(5): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 3/13 | 211/2985 | 192/1041 | 64/346 | chr17 | TogoVar | ||
B3GNTL1_chr17_82937149_83056770 | 83048744 | G | A | synonymous_variant | LOW | HG01891.hp2 HG02055.hp2 HG02451.hp2 others(9): Show |
a0001a0003a0004 | a0001c0011a0001c0029a0003c0030others(1): Show | a0001c0011t0001a0001c0011t0010a0001c0011t0011others(6): Show | a0001c0011t0001g0144a0001c0011t0010g0146a0001c0011t0010g0147others(9): Show | 12 | 266 | 0.0451 | 0 | c.57C others(2): Show |
p.Asp others(5): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 2/13 | 76/2985 | 57/1041 | 19/346 | chr17 | TogoVar | ||
B3GNTL1_chr17_82937149_83056770 | 83048753 | C | T | synonymous_variant | LOW | HG00408.hp2 HG00597.hp1 HG00609.hp1 others(46): Show |
a0001a0002a0003 | a0001c0004a0001c0006a0001c0013others(5): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0010others(19): Show | a0001c0004t0001g0002a0001c0004t0001g0021a0001c0004t0001g0025others(44): Show | 49 | 266 | 0.1842 | 0 | c.48G others(2): Show |
p.Pro others(5): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 2/13 | 67/2985 | 48/1041 | 16/346 | chr17 | TogoVar | ||
B3GNTL1_chr17_82937149_83056770 | 83051746 | C | T | synonymous_variant | LOW | HG00423.hp1 HG00558.hp1 HG00673.hp2 others(39): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0008a0001c0020others(4): Show | a0001c0003t0004a0001c0003t0005a0001c0003t0009others(15): Show | a0001c0003t0004g0189a0001c0003t0004g0190a0001c0003t0004g0201others(38): Show | 42 | 266 | 0.1579 | 0 | c.6G> others(1): Show |
p.Gln others(4): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 1/13 | 25/2985 | 6/1041 | 2/346 | chr17 | TogoVar | ||
B4GALNT1_chr12_57618409_57638201 | 57626891 | G | C | synonymous_variant | LOW | HG02572.hp1 | a0002 | a0002c0013 | a0002c0013t0017 | a0002c0013t0017g0043 | 1 | 406 | 0.0025 | 0 | c.145 others(4): Show |
p.Ser others(6): Show |
B4GALNT1 | ENSG00000135454.14 | transcript | ENST00000341156.9 | protein_coding | 11/11 | 1886/5368 | 1455/1602 | 485/533 | chr12 | TogoVar | ||
B4GALNT1_chr12_57618409_57638201 | 57628146 | C | T | synonymous_variant | LOW | HG01109.hp2 HG01884.hp2 HG02145.hp2 others(6): Show |
a0002 | a0002c0004 | a0002c0004t0009a0002c0004t0016a0002c0004t0017others(1): Show | a0002c0004t0009g0015a0002c0004t0016g0048a0002c0004t0017g0024others(1): Show | 9 | 406 | 0.0222 | 0 | c.111 others(4): Show |
p.Val others(6): Show |
B4GALNT1 | ENSG00000135454.14 | transcript | ENST00000341156.9 | protein_coding | 9/11 | 1550/5368 | 1119/1602 | 373/533 | chr12 | TogoVar | ||
B4GALNT1_chr12_57618409_57638201 | 57628241 | G | A | synonymous_variant | LOW | HG01261.hp1 HG04199.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0032 | 2 | 406 | 0.0049 | 0 | c.102 others(4): Show |
p.Leu others(6): Show |
B4GALNT1 | ENSG00000135454.14 | transcript | ENST00000341156.9 | protein_coding | 9/11 | 1455/5368 | 1024/1602 | 342/533 | chr12 | TogoVar | ||
B4GALNT1_chr12_57618409_57638201 | 57629091 | C | T | synonymous_variant | LOW | HG02922.hp1 HG03195.hp1 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0029 | 2 | 406 | 0.0049 | 0 | c.768 others(3): Show |
p.Pro others(6): Show |
B4GALNT1 | ENSG00000135454.14 | transcript | ENST00000341156.9 | protein_coding | 7/11 | 1199/5368 | 768/1602 | 256/533 | chr12 | TogoVar | ||
B4GALNT1_chr12_57618409_57638201 | 57630198 | C | A | synonymous_variant | LOW | HG00280.hp1 HG00323.hp2 HG00597.hp1 others(89): Show |
a0002a0004 | a0002c0002a0002c0004a0002c0013others(1): Show | a0002c0002t0003a0002c0002t0005a0002c0002t0007others(12): Show | a0002c0002t0003g0003a0002c0002t0003g0017a0002c0002t0003g0035others(19): Show | 92 | 406 | 0.2266 | 0 | c.666 others(3): Show |
p.Leu others(6): Show |
B4GALNT1 | ENSG00000135454.14 | transcript | ENST00000341156.9 | protein_coding | 6/11 | 1097/5368 | 666/1602 | 222/533 | chr12 | TogoVar | ||
B4GALNT1_chr12_57618409_57638201 | 57630279 | T | C | synonymous_variant | LOW | NA19078.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0066 | 1 | 406 | 0.0025 | 0 | c.585 others(3): Show |
p.Gly others(6): Show |
B4GALNT1 | ENSG00000135454.14 | transcript | ENST00000341156.9 | protein_coding | 6/11 | 1016/5368 | 585/1602 | 195/533 | chr12 | TogoVar | ||
B4GALNT1_chr12_57618409_57638201 | 57631953 | G | A | synonymous_variant | LOW | HG04228.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0069 | 1 | 406 | 0.0025 | 0 | c.180 others(3): Show |
p.Tyr others(5): Show |
B4GALNT1 | ENSG00000135454.14 | transcript | ENST00000341156.9 | protein_coding | 2/11 | 611/5368 | 180/1602 | 60/533 | chr12 | TogoVar | ||
B4GALNT2_chr17_49127769_49181840 | 49132804 | C | A | splice_region_variant others(1): Show |
LOW | HG01070.hp2 HG01071.hp2 |
a0002 | a0002c0007 | a0002c0007t0004 | a0002c0007t0004g0016 | 2 | 380 | 0.0053 | 0 | c.12C others(2): Show |
p.Gly others(4): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 1/11 | 36/8657 | 12/1521 | 4/506 | chr17 | TogoVar | ||
B4GALNT2_chr17_49127769_49181840 | 49152842 | C | T | synonymous_variant | LOW | HG02109.hp2 HG02258.hp2 HG02630.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0008a0001c0004t0020a0001c0004t0049others(1): Show | a0001c0004t0008g0264a0001c0004t0008g0265a0001c0004t0020g0254others(2): Show | 5 | 380 | 0.0132 | 0 | c.396 others(3): Show |
p.Asn others(6): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 4/11 | 420/8657 | 396/1521 | 132/506 | chr17 | TogoVar | ||
B4GALNT2_chr17_49127769_49181840 | 49159189 | G | A | synonymous_variant | LOW | HG01069.hp2 HG01071.hp1 NA18522.hp1 |
a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0010a0001c0005t0008g0081 | 3 | 380 | 0.0079 | 0 | c.651 others(3): Show |
p.Thr others(6): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 6/11 | 675/8657 | 651/1521 | 217/506 | chr17 | TogoVar | ||
B4GALNT2_chr17_49127769_49181840 | 49164242 | T | C | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(375): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(348): Show | 378 | 380 | 0.9947 | 0 | c.921 others(3): Show |
p.Asn others(6): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 8/11 | 945/8657 | 921/1521 | 307/506 | chr17 | TogoVar | ||
B4GALNT2_chr17_49127769_49181840 | 49169617 | A | G | synonymous_variant | LOW | HG00323.hp1 HG00438.hp1 HG00741.hp2 others(34): Show |
a0002a0005a0011 | a0002c0002a0002c0007a0005c0008others(1): Show | a0002c0002t0004a0002c0002t0005a0002c0002t0011others(4): Show | a0002c0002t0004g0037a0002c0002t0004g0038a0002c0002t0004g0101others(31): Show | 37 | 380 | 0.0974 | 0 | c.141 others(4): Show |
p.Glu others(6): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 11/11 | 1434/8657 | 1410/1521 | 470/506 | chr17 | TogoVar | ||
B4GALNT3_chr12_454939_568509 | 460460 | G | A | synonymous_variant | LOW | HG02630.hp1 HG03098.hp2 HG03139.hp1 |
a0001a0006 | a0001c0016a0006c0023 | a0001c0016t0083a0001c0016t0088a0006c0023t0002 | a0001c0016t0083g0228a0001c0016t0088g0229a0006c0023t0002g0230 | 3 | 394 | 0.0076 | 0 | c.84G others(2): Show |
p.Ala others(5): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/20 | 522/5493 | 84/2997 | 28/998 | chr12 | TogoVar | ||
B4GALNT3_chr12_454939_568509 | 545460 | T | C | synonymous_variant | LOW | HG00738.hp1 | a0001 | a0001c0030 | a0001c0030t0006 | a0001c0030t0006g0332 | 1 | 394 | 0.0025 | 0 | c.630 others(3): Show |
p.Ser others(6): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 6/20 | 1068/5493 | 630/2997 | 210/998 | chr12 | TogoVar | ||
B4GALNT3_chr12_454939_568509 | 549827 | C | T | synonymous_variant | LOW | HG00280.hp2 HG01167.hp1 HG01256.hp2 others(31): Show |
a0001a0003a0009others(2): Show | a0001c0048a0003c0004a0003c0049others(3): Show | a0001c0048t0044a0003c0004t0001a0003c0004t0002others(21): Show | a0001c0048t0044g0394a0003c0004t0001g0217a0003c0004t0002g0197others(31): Show | 34 | 394 | 0.0863 | 0 | c.912 others(3): Show |
p.His others(6): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 10/20 | 1350/5493 | 912/2997 | 304/998 | chr12 | TogoVar |