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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AZIN2_chr1_33076153_33128492 | 33096748 | A | T | synonymous_variant | LOW | HG02155.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0001 | 1 | 322 | 0.0031 | 0 | c.795 others(3): Show |
p.Pro others(6): Show |
AZIN2 | ENSG00000142920.18 | transcript | ENST00000294517.11 | protein_coding | 9/12 | 1342/5240 | 795/1383 | 265/460 | chr1 | TogoVar | ||
AZIN2_chr1_33076153_33128492 | 33120119 | C | T | synonymous_variant | LOW | HG03098.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0172 | 1 | 322 | 0.0031 | 0 | c.132 others(4): Show |
p.Cys others(6): Show |
AZIN2 | ENSG00000142920.18 | transcript | ENST00000294517.11 | protein_coding | 12/12 | 1867/5240 | 1320/1383 | 440/460 | chr1 | TogoVar | ||
AZU1_chr19_822837_837018 | 827891 | G | A | synonymous_variant | LOW | HG01975.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0001 | 1 | 391 | 0.0026 | 0 | c.45G others(2): Show |
p.Ala others(5): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1/5 | 55/907 | 45/756 | 15/251 | chr19 | TogoVar | ||
AZU1_chr19_822837_837018 | 829568 | C | T | synonymous_variant | LOW | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(135): Show |
a0001a0006a0008 | a0001c0002a0001c0008a0001c0009others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0008t0001others(3): Show | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0004others(23): Show | 138 | 391 | 0.3529 | 0 | c.222 others(3): Show |
p.Pro others(5): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3/5 | 232/907 | 222/756 | 74/251 | chr19 | TogoVar | ||
AZU1_chr19_822837_837018 | 830854 | T | C | synonymous_variant | LOW | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(240): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0004others(9): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(10): Show | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0004others(74): Show | 243 | 391 | 0.6215 | 0 | c.507 others(3): Show |
p.Phe others(6): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 4/5 | 517/907 | 507/756 | 169/251 | chr19 | TogoVar | ||
AZU1_chr19_822837_837018 | 830860 | C | T | synonymous_variant | LOW | HG01978.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0011 | 1 | 391 | 0.0026 | 0 | c.513 others(3): Show |
p.Asn others(6): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 4/5 | 523/907 | 513/756 | 171/251 | chr19 | TogoVar | ||
AZU1_chr19_822837_837018 | 831781 | G | T | synonymous_variant | LOW | HG01516.hp2 HG01517.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0010 | 2 | 391 | 0.0051 | 0 | c.660 others(3): Show |
p.Gly others(6): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 5/5 | 670/907 | 660/756 | 220/251 | chr19 | TogoVar | ||
AZU1_chr19_822837_837018 | 831811 | C | T | synonymous_variant | LOW | HG01192.hp1 HG02109.hp2 HG02258.hp1 others(31): Show |
a0001 | a0001c0004a0001c0009 | a0001c0004t0001a0001c0009t0001 | a0001c0004t0001g0007a0001c0004t0001g0008a0001c0004t0001g0014others(12): Show | 34 | 391 | 0.0870 | 0 | c.690 others(3): Show |
p.Thr others(6): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 5/5 | 700/907 | 690/756 | 230/251 | chr19 | TogoVar | ||
AZU1_chr19_822837_837018 | 831859 | G | A | synonymous_variant | LOW | NA18955.hp2 NA18964.hp2 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0003 | 2 | 391 | 0.0051 | 0 | c.738 others(3): Show |
p.Pro others(6): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 5/5 | 748/907 | 738/756 | 246/251 | chr19 | TogoVar | ||
B3GALNT2_chr1_235442190_235509452 | 235489208 | C | T | synonymous_variant | LOW | HG00099.hp1 HG00140.hp2 HG00558.hp2 others(84): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0003a0001c0002t0006a0001c0002t0008others(19): Show | a0001c0002t0003g0259a0001c0002t0003g0260a0001c0002t0003g0261others(81): Show | 87 | 344 | 0.2529 | 0 | c.321 others(3): Show |
p.Glu others(6): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 3/12 | 521/4719 | 321/1503 | 107/500 | chr1 | TogoVar | ||
B3GALT1_chr2_167288001_167879045 | 167869126 | T | A | synonymous_variant | LOW | HG01169.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0090 | 1 | 118 | 0.0085 | 0 | c.87T others(2): Show |
p.Thr others(5): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 5/5 | 931/5850 | 87/981 | 29/326 | chr2 | TogoVar | ||
B3GALT1_chr2_167288001_167879045 | 167869834 | C | T | synonymous_variant | LOW | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0044 | a0001c0003t0044g0115 | 1 | 118 | 0.0085 | 0 | c.795 others(3): Show |
p.Asp others(6): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 5/5 | 1639/5850 | 795/981 | 265/326 | chr2 | TogoVar | ||
B3GALT2_chr1_193173730_193191613 | 193180548 | A | G | synonymous_variant | LOW | NA19083.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0039 | 1 | 398 | 0.0025 | 0 | c.101 others(4): Show |
p.Leu others(6): Show |
B3GALT2 | ENSG00000162630.6 | transcript | ENST00000367434.5 | protein_coding | 2/2 | 1730/3548 | 1015/1269 | 339/422 | chr1 | TogoVar | ||
B3GALT2_chr1_193173730_193191613 | 193180624 | A | G | synonymous_variant | LOW | HG01106.hp2 HG01496.hp2 HG01975.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0008 | 6 | 398 | 0.0151 | 0 | c.939 others(3): Show |
p.Ser others(6): Show |
B3GALT2 | ENSG00000162630.6 | transcript | ENST00000367434.5 | protein_coding | 2/2 | 1654/3548 | 939/1269 | 313/422 | chr1 | TogoVar | ||
B3GALT2_chr1_193173730_193191613 | 193181089 | A | G | synonymous_variant | LOW | HG00642.hp2 HG00738.hp1 HG01070.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0004 | 12 | 398 | 0.0302 | 0 | c.474 others(3): Show |
p.Ala others(6): Show |
B3GALT2 | ENSG00000162630.6 | transcript | ENST00000367434.5 | protein_coding | 2/2 | 1189/3548 | 474/1269 | 158/422 | chr1 | TogoVar | ||
B3GALT4_chr6_33272123_33283825 | 33277428 | C | G | synonymous_variant | LOW | HG02965.hp1 HG03486.hp2 HG03579.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0000 | 3 | 363 | 0.0083 | 0 | c.9C> others(1): Show |
p.Leu others(4): Show |
B3GALT4 | ENSG00000235863.4 | transcript | ENST00000451237.3 | protein_coding | 1/1 | 306/1703 | 9/1137 | 3/378 | chr6 | TogoVar | ||
B3GALT4_chr6_33272123_33283825 | 33277578 | G | T | synonymous_variant | LOW | NA18612.hp1 NA18945.hp1 NA19070.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0000 | 3 | 363 | 0.0083 | 0 | c.159 others(3): Show |
p.Leu others(5): Show |
B3GALT4 | ENSG00000235863.4 | transcript | ENST00000451237.3 | protein_coding | 1/1 | 456/1703 | 159/1137 | 53/378 | chr6 | TogoVar | ||
B3GALT4_chr6_33272123_33283825 | 33277636 | C | T | synonymous_variant | LOW | NA18944.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0000 | 1 | 363 | 0.0028 | 0 | c.217 others(3): Show |
p.Leu others(5): Show |
B3GALT4 | ENSG00000235863.4 | transcript | ENST00000451237.3 | protein_coding | 1/1 | 514/1703 | 217/1137 | 73/378 | chr6 | TogoVar | ||
B3GALT4_chr6_33272123_33283825 | 33278091 | T | A | synonymous_variant | LOW | HG00735.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0000 | 1 | 363 | 0.0028 | 0 | c.672 others(3): Show |
p.Leu others(6): Show |
B3GALT4 | ENSG00000235863.4 | transcript | ENST00000451237.3 | protein_coding | 1/1 | 969/1703 | 672/1137 | 224/378 | chr6 | TogoVar | ||
B3GALT4_chr6_33272123_33283825 | 33278469 | C | T | synonymous_variant | LOW | NA19066.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0000 | 1 | 363 | 0.0028 | 0 | c.105 others(4): Show |
p.Asp others(6): Show |
B3GALT4 | ENSG00000235863.4 | transcript | ENST00000451237.3 | protein_coding | 1/1 | 1347/1703 | 1050/1137 | 350/378 | chr6 | TogoVar | ||
B3GALT4_chr6_33272123_33283825 | 33278484 | G | A | synonymous_variant | LOW | HG02818.hp2 HG02976.hp2 HG03453.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0000 | 3 | 363 | 0.0083 | 0 | c.106 others(4): Show |
p.Ala others(6): Show |
B3GALT4 | ENSG00000235863.4 | transcript | ENST00000451237.3 | protein_coding | 1/1 | 1362/1703 | 1065/1137 | 355/378 | chr6 | TogoVar | ||
B3GALT5_chr21_39607940_39678137 | 39660767 | T | C | synonymous_variant | LOW | HG03669.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0006 | 1 | 336 | 0.0030 | 0 | c.208 others(3): Show |
p.Leu others(5): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 4/4 | 727/13097 | 208/933 | 70/310 | chr21 | TogoVar | ||
B3GALT5_chr21_39607940_39678137 | 39660877 | G | A | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(189): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(56): Show | a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0040others(188): Show | 192 | 336 | 0.5714 | 0 | c.318 others(3): Show |
p.Thr others(6): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 4/4 | 837/13097 | 318/933 | 106/310 | chr21 | TogoVar | ||
B3GALT5_chr21_39607940_39678137 | 39661135 | G | A | synonymous_variant | LOW | HG00140.hp1 HG01261.hp2 HG01358.hp1 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0057a0001c0004t0002g0058a0001c0004t0002g0131 | 3 | 336 | 0.0089 | 0 | c.576 others(3): Show |
p.Arg others(6): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 4/4 | 1095/13097 | 576/933 | 192/310 | chr21 | TogoVar | ||
B3GALT6_chr1_1227237_1240041 | 1232333 | C | T | synonymous_variant | LOW | NA18939.hp2 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0000 | 1 | 366 | 0.0027 | 0 | c.55C others(2): Show |
p.Leu others(5): Show |
B3GALT6 | ENSG00000176022.7 | transcript | ENST00000379198.5 | protein_coding | 1/1 | 97/2805 | 55/990 | 19/329 | chr1 | TogoVar | ||
B3GALT6_chr1_1227237_1240041 | 1232416 | C | T | synonymous_variant | LOW | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(60): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0003a0001c0002t0018others(9): Show | a0001c0002t0001g0000a0001c0002t0003g0000a0001c0002t0018g0000others(9): Show | 63 | 366 | 0.1721 | 0 | c.138 others(3): Show |
p.Ser others(5): Show |
B3GALT6 | ENSG00000176022.7 | transcript | ENST00000379198.5 | protein_coding | 1/1 | 180/2805 | 138/990 | 46/329 | chr1 | TogoVar | ||
B3GALT6_chr1_1227237_1240041 | 1233112 | G | A | synonymous_variant | LOW | HG03130.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0000 | 1 | 366 | 0.0027 | 0 | c.834 others(3): Show |
p.Thr others(6): Show |
B3GALT6 | ENSG00000176022.7 | transcript | ENST00000379198.5 | protein_coding | 1/1 | 876/2805 | 834/990 | 278/329 | chr1 | TogoVar | ||
B3GALT6_chr1_1227237_1240041 | 1233125 | C | T | synonymous_variant | LOW | HG01123.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0000 | 1 | 366 | 0.0027 | 0 | c.847 others(3): Show |
p.Leu others(6): Show |
B3GALT6 | ENSG00000176022.7 | transcript | ENST00000379198.5 | protein_coding | 1/1 | 889/2805 | 847/990 | 283/329 | chr1 | TogoVar | ||
B3GAT1_chr11_134373508_134417242 | 134382947 | G | A | synonymous_variant | LOW | HG02258.hp2 HG02572.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004a0001c0003t0048 | a0001c0003t0001g0235a0001c0003t0004g0249a0001c0003t0004g0250others(3): Show | 6 | 352 | 0.0171 | 0 | c.681 others(3): Show |
p.Tyr others(6): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 4/6 | 1398/3976 | 681/1005 | 227/334 | chr11 | TogoVar | ||
B3GAT2_chr6_70851679_70962060 | 70861893 | A | G | synonymous_variant | LOW | HG03486.hp1 | a0001 | a0001c0003 | a0001c0003t0062 | a0001c0003t0062g0105 | 1 | 316 | 0.0032 | 0 | c.822 others(3): Show |
p.Ser others(6): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 3/4 | 1453/6587 | 822/972 | 274/323 | chr6 | TogoVar | ||
B3GAT2_chr6_70851679_70962060 | 70956283 | G | A | synonymous_variant | LOW | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(185): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0042a0001c0001t0001g0044a0001c0001t0001g0046others(184): Show | 188 | 316 | 0.5949 | 0 | c.147 others(3): Show |
p.Gly others(5): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1/4 | 778/6587 | 147/972 | 49/323 | chr6 | TogoVar | ||
B3GAT3_chr11_62610296_62626986 | 62620646 | G | A | synonymous_variant | LOW | NA19010.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0084 | 1 | 290 | 0.0035 | 0 | c.108 others(3): Show |
p.Pro others(5): Show |
B3GAT3 | ENSG00000149541.10 | transcript | ENST00000265471.10 | protein_coding | 2/5 | 147/1452 | 108/1008 | 36/335 | chr11 | TogoVar | ||
B3GLCT_chr13_31194975_31337276 | 31200123 | G | C | synonymous_variant | LOW | HG02717.hp2 | a0002 | a0002c0007 | a0002c0007t0023 | a0002c0007t0023g0004 | 1 | 268 | 0.0037 | 0 | c.39G others(2): Show |
p.Pro others(5): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 1/15 | 149/4215 | 39/1497 | 13/498 | chr13 | TogoVar | ||
B3GLCT_chr13_31194975_31337276 | 31247049 | T | C | synonymous_variant | LOW | HG01891.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0063 | 1 | 268 | 0.0037 | 0 | c.297 others(3): Show |
p.His others(5): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 5/15 | 407/4215 | 297/1497 | 99/498 | chr13 | TogoVar | ||
B3GLCT_chr13_31194975_31337276 | 31247855 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0007others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(31): Show | a0001c0001t0001g0014a0001c0001t0001g0022a0001c0001t0001g0024others(252): Show | 257 | 268 | 0.9590 | 0 | c.348 others(3): Show |
p.His others(6): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 6/15 | 458/4215 | 348/1497 | 116/498 | chr13 | TogoVar | ||
B3GLCT_chr13_31194975_31337276 | 31317635 | C | T | synonymous_variant | LOW | HG01106.hp2 | a0002 | a0002c0011 | a0002c0011t0004 | a0002c0011t0004g0181 | 1 | 268 | 0.0037 | 0 | c.113 others(4): Show |
p.Tyr others(6): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 13/15 | 1244/4215 | 1134/1497 | 378/498 | chr13 | TogoVar | ||
B3GLCT_chr13_31194975_31337276 | 31329542 | A | G | synonymous_variant | LOW | HG00099.hp1 | a0002 | a0002c0010 | a0002c0010t0003 | a0002c0010t0003g0010 | 1 | 268 | 0.0037 | 0 | c.137 others(4): Show |
p.Gln others(6): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 15/15 | 1481/4215 | 1371/1497 | 457/498 | chr13 | TogoVar | ||
B3GNT2_chr2_62191115_62229731 | 62222449 | C | T | synonymous_variant | LOW | HG01934.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0015 | 1 | 406 | 0.0025 | 0 | c.229 others(3): Show |
p.Leu others(5): Show |
B3GNT2 | ENSG00000170340.11 | transcript | ENST00000301998.5 | protein_coding | 2/2 | 479/2761 | 229/1194 | 77/397 | chr2 | TogoVar | ||
B3GNT2_chr2_62191115_62229731 | 62222463 | G | A | synonymous_variant | LOW | HG03834.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0119 | 1 | 406 | 0.0025 | 0 | c.243 others(3): Show |
p.Thr others(5): Show |
B3GNT2 | ENSG00000170340.11 | transcript | ENST00000301998.5 | protein_coding | 2/2 | 493/2761 | 243/1194 | 81/397 | chr2 | TogoVar | ||
B3GNT2_chr2_62191115_62229731 | 62222529 | G | A | synonymous_variant | LOW | HG03041.hp1 NA19240.hp1 |
a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0075a0001c0004t0011g0225 | 2 | 406 | 0.0049 | 0 | c.309 others(3): Show |
p.Thr others(6): Show |
B3GNT2 | ENSG00000170340.11 | transcript | ENST00000301998.5 | protein_coding | 2/2 | 559/2761 | 309/1194 | 103/397 | chr2 | TogoVar | ||
B3GNT2_chr2_62191115_62229731 | 62222658 | G | A | synonymous_variant | LOW | NA18944.hp2 NA18948.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0039 | 2 | 406 | 0.0049 | 0 | c.438 others(3): Show |
p.Leu others(6): Show |
B3GNT2 | ENSG00000170340.11 | transcript | ENST00000301998.5 | protein_coding | 2/2 | 688/2761 | 438/1194 | 146/397 | chr2 | TogoVar | ||
B3GNT2_chr2_62191115_62229731 | 62222730 | C | T | synonymous_variant | LOW | HG01070.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0012 | 1 | 406 | 0.0025 | 0 | c.510 others(3): Show |
p.Asn others(6): Show |
B3GNT2 | ENSG00000170340.11 | transcript | ENST00000301998.5 | protein_coding | 2/2 | 760/2761 | 510/1194 | 170/397 | chr2 | TogoVar | ||
B3GNT2_chr2_62191115_62229731 | 62222952 | C | T | synonymous_variant | LOW | HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0062 | 2 | 406 | 0.0049 | 0 | c.732 others(3): Show |
p.Gly others(6): Show |
B3GNT2 | ENSG00000170340.11 | transcript | ENST00000301998.5 | protein_coding | 2/2 | 982/2761 | 732/1194 | 244/397 | chr2 | TogoVar | ||
B3GNT3_chr19_17790138_17818576 | 17807939 | C | T | synonymous_variant | LOW | HG02809.hp2 HG03471.hp1 |
a0001 | a0001c0006 | a0001c0006t0003a0001c0006t0034 | a0001c0006t0003g0194a0001c0006t0034g0238 | 2 | 406 | 0.0049 | 0 | c.132 others(3): Show |
p.Pro others(5): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 2/3 | 251/2692 | 132/1119 | 44/372 | chr19 | TogoVar | ||
B3GNT3_chr19_17790138_17818576 | 17808215 | A | T | synonymous_variant | LOW | HG00280.hp1 HG00544.hp1 HG00597.hp2 others(61): Show |
a0001a0008 | a0001c0003a0008c0011 | a0001c0003t0001a0001c0003t0003a0001c0003t0004others(4): Show | a0001c0003t0001g0105a0001c0003t0001g0108a0001c0003t0003g0010others(38): Show | 64 | 406 | 0.1576 | 0 | c.408 others(3): Show |
p.Val others(6): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 2/3 | 527/2692 | 408/1119 | 136/372 | chr19 | TogoVar | ||
B3GNT3_chr19_17790138_17818576 | 17811693 | C | G | synonymous_variant | LOW | NA18955.hp2 | a0006 | a0006c0010 | a0006c0010t0006 | a0006c0010t0006g0161 | 1 | 406 | 0.0025 | 0 | c.690 others(3): Show |
p.Gly others(6): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 3/3 | 809/2692 | 690/1119 | 230/372 | chr19 | TogoVar | ||
B3GNT3_chr19_17790138_17818576 | 17811738 | C | T | synonymous_variant | LOW | NA18955.hp2 | a0006 | a0006c0010 | a0006c0010t0006 | a0006c0010t0006g0161 | 1 | 406 | 0.0025 | 0 | c.735 others(3): Show |
p.Ile others(6): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 3/3 | 854/2692 | 735/1119 | 245/372 | chr19 | TogoVar | ||
B3GNT3_chr19_17790138_17818576 | 17812098 | C | T | synonymous_variant | LOW | NA18994.hp1 | a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0082 | 1 | 406 | 0.0025 | 0 | c.109 others(4): Show |
p.Cys others(6): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 3/3 | 1214/2692 | 1095/1119 | 365/372 | chr19 | TogoVar | ||
B3GNT4_chr12_122198709_122213952 | 122206773 | G | A | synonymous_variant | LOW | HG00140.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0002 | 1 | 412 | 0.0024 | 0 | c.522 others(3): Show |
p.Glu others(6): Show |
B3GNT4 | ENSG00000176383.9 | transcript | ENST00000324189.5 | protein_coding | 3/3 | 712/2891 | 522/1137 | 174/378 | chr12 | TogoVar | ||
B3GNT4_chr12_122198709_122213952 | 122207191 | C | A | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(406): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0014a0001c0015others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(79): Show | 409 | 412 | 0.9927 | 0 | c.940 others(3): Show |
p.Arg others(6): Show |
B3GNT4 | ENSG00000176383.9 | transcript | ENST00000324189.5 | protein_coding | 3/3 | 1130/2891 | 940/1137 | 314/378 | chr12 | TogoVar |