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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AXIN1_chr16_282440_357723 | 344429 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(74): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0013others(26): Show | a0001c0001t0002g0006a0001c0001t0002g0008a0001c0001t0002g0009others(73): Show | 77 | 378 | 0.2037 | 3 | c.878 others(20): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 351609 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00735.hp2 others(9): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0008others(1): Show | a0001c0001t0002a0001c0001t0010a0001c0003t0007others(3): Show | a0001c0001t0002g0006a0001c0001t0010g0034a0001c0003t0007g0266others(9): Show | 12 | 378 | 0.0318 | 3 | c.-82 others(18): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 351629 | A | AGAG | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(81): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0013others(31): Show | a0001c0001t0002g0006a0001c0001t0002g0008a0001c0001t0002g0009others(80): Show | 84 | 378 | 0.2222 | 3 | c.-82 others(18): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
AXIN2_chr17_65523563_65566648 | 65527110 | C | CAAA | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(33): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0010others(8): Show | a0001c0002t0001a0001c0003t0001a0001c0010t0009others(8): Show | a0001c0002t0001g0049a0001c0002t0001g0051a0001c0002t0001g0064others(28): Show | 36 | 402 | 0.0896 | 3 | c.*28 others(14): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 1452 | chr17 | TogoVar | ||||||
AXIN2_chr17_65523563_65566648 | 65538667 | C | CAAA | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00673.hp2 others(29): Show |
a0001a0002a0009others(2): Show | a0001c0002a0001c0003a0001c0005others(5): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(6): Show | a0001c0002t0001g0020a0001c0002t0001g0069a0001c0002t0001g0070others(26): Show | 32 | 402 | 0.0796 | 3 | c.106 others(20): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 4/10 | chr17 | TogoVar | ||||||
AXIN2_chr17_65523563_65566648 | 65562955 | C | CAAA | upstream_gene_variant | MODIFIER | HG01069.hp2 HG02015.hp2 HG02735.hp2 others(6): Show |
a0001a0002a0014 | a0001c0004a0001c0005a0001c0010others(2): Show | a0001c0004t0002a0001c0004t0003a0001c0005t0001others(3): Show | a0001c0004t0002g0209a0001c0004t0003g0010a0001c0004t0003g0011others(6): Show | 9 | 402 | 0.0224 | 3 | c.-16 others(14): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 1308 | chr17 | TogoVar | ||||||
AXIN2_chr17_65523563_65566648 | 65562972 | A | AAAC | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01109.hp2 HG01168.hp1 others(7): Show |
a0002 | a0002c0001a0002c0007a0002c0008 | a0002c0001t0002a0002c0007t0001a0002c0008t0001 | a0002c0001t0002g0002a0002c0001t0002g0023a0002c0001t0002g0027others(7): Show | 10 | 402 | 0.0249 | 3 | c.-16 others(14): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 1325 | chr17 | TogoVar | ||||||
AXL_chr19_41214223_41266766 | 41231949 | C | CAAA | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG01167.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0004g0014a0001c0001t0004g0152a0001c0001t0004g0153others(31): Show | 35 | 314 | 0.1115 | 3 | c.783 others(18): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AXL_chr19_41214223_41266766 | 41236331 | T | TAAA | intron_variant | MODIFIER | HG02055.hp1 HG02056.hp2 HG04115.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0146a0001c0001t0002g0147a0001c0001t0002g0185others(4): Show | 7 | 314 | 0.0223 | 3 | c.784 others(20): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AXL_chr19_41214223_41266766 | 41247010 | T | TCAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(133): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0016a0001c0001t0001g0132a0001c0001t0002g0003others(122): Show | 136 | 314 | 0.4331 | 3 | c.153 others(22): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AZGP1_chr7_99961730_99981031 | 99963942 | T | TATC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(402): Show |
a0000a0001a0002others(3): Show | a0000c0007a0001c0001a0001c0002others(8): Show | a0000c0007t0001a0001c0001t0001a0001c0001t0002others(9): Show | a0000c0007t0001g0091a0000c0007t0001g0092a0001c0001t0001g0003others(141): Show | 405 | 432 | 0.9375 | 3 | c.*30 others(14): Show |
AZGP1 | ENSG00000160862.13 | transcript | ENST00000292401.9 | protein_coding | 2787 | chr7 | TogoVar | ||||||
AZGP1_chr7_99961730_99981031 | 99968962 | C | CAAA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(75): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0028a0001c0001t0001g0061a0001c0001t0001g0100others(20): Show | 78 | 432 | 0.1806 | 3 | c.338 others(18): Show |
AZGP1 | ENSG00000160862.13 | transcript | ENST00000292401.9 | protein_coding | 2/3 | chr7 | TogoVar | ||||||
AZGP1_chr7_99961730_99981031 | 99970967 | C | CCAG | intron_variant | MODIFIER | HG00438.hp2 HG02015.hp2 NA18946.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049a0001c0001t0001g0112a0001c0001t0001g0113others(1): Show | 5 | 432 | 0.0116 | 3 | c.337 others(18): Show |
AZGP1 | ENSG00000160862.13 | transcript | ENST00000292401.9 | protein_coding | 2/3 | chr7 | TogoVar | ||||||
AZIN1_chr8_102821308_102869163 | 102834595 | A | AAAC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(120): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0002g0016a0001c0001t0002g0219a0001c0001t0002g0220others(99): Show | 123 | 380 | 0.3237 | 3 | c.666 others(16): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 7/11 | chr8 | TogoVar | ||||||
AZIN1_chr8_102821308_102869163 | 102841805 | T | TAAA | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG01361.hp2 others(40): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0020a0001c0003t0021 | a0001c0003t0002g0004a0001c0003t0002g0005a0001c0003t0002g0013others(21): Show | 43 | 380 | 0.1132 | 3 | c.102 others(20): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 3/11 | chr8 | TogoVar | ||||||
AZIN1_chr8_102821308_102869163 | 102854594 | C | CAAA | intron_variant | MODIFIER | HG01081.hp2 HG01257.hp1 HG02300.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004a0001c0002t0005 | a0001c0001t0001g0059a0001c0002t0004g0018a0001c0002t0004g0270others(5): Show | 10 | 380 | 0.0263 | 3 | c.-96 others(20): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 2/11 | chr8 | TogoVar | ||||||
AZIN1_chr8_102821308_102869163 | 102854607 | A | AAAT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(50): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0004a0001c0002t0005others(6): Show | a0001c0001t0001g0071a0001c0001t0001g0072a0001c0001t0001g0073others(45): Show | 53 | 380 | 0.1395 | 3 | c.-96 others(20): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 2/11 | chr8 | TogoVar | ||||||
AZIN1_chr8_102821308_102869163 | 102856064 | T | TCAG | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00438.hp1 others(61): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0005a0001c0002t0012others(4): Show | a0001c0002t0004g0007a0001c0002t0004g0018a0001c0002t0004g0035others(53): Show | 64 | 380 | 0.1684 | 3 | c.-96 others(20): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 2/11 | chr8 | TogoVar | ||||||
AZIN1_chr8_102821308_102869163 | 102856084 | G | GTTT | intron_variant | MODIFIER | HG01081.hp1 HG01099.hp1 HG01109.hp1 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0003 | a0001c0001t0003g0002a0001c0001t0003g0141a0001c0001t0003g0142others(3): Show | 15 | 380 | 0.0395 | 3 | c.-96 others(20): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 2/11 | chr8 | TogoVar | ||||||
AZIN1_chr8_102821308_102869163 | 102856093 | G | GTTT | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG01123.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0027a0001c0001t0006g0151a0001c0001t0006g0152others(11): Show | 15 | 380 | 0.0395 | 3 | c.-96 others(20): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 2/11 | chr8 | TogoVar | ||||||
AZIN1_chr8_102821308_102869163 | 102859130 | T | TAGG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(206): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(16): Show | a0001c0001t0002g0012a0001c0001t0002g0016a0001c0001t0002g0133others(161): Show | 209 | 380 | 0.5500 | 3 | c.-23 others(20): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 833243 | G | GATA | downstream_gene_variant | MODIFIER | HG00639.hp2 HG02132.hp1 HG02257.hp1 others(2): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0013 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0005a0001c0001t0003g0005a0001c0003t0001g0015others(1): Show | 5 | 391 | 0.0128 | 3 | c.*13 others(14): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1226 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 833266 | T | TAAG | downstream_gene_variant | MODIFIER | HG03927.hp1 NA19088.hp1 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0037 | 3 | 391 | 0.0077 | 3 | c.*13 others(14): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1249 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 833269 | T | TAAG | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02976.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0017a0001c0004t0001g0021 | 3 | 391 | 0.0077 | 3 | c.*13 others(14): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1252 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 833272 | T | TAAG | downstream_gene_variant | MODIFIER | HG01261.hp2 HG01358.hp2 HG01496.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0036a0001c0001t0001g0037others(4): Show | 8 | 391 | 0.0205 | 3 | c.*13 others(14): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1255 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 833275 | T | TAAG | downstream_gene_variant | MODIFIER | HG00423.hp1 HG01109.hp1 HG02280.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0001a0001c0002t0001g0002a0001c0002t0001g0017others(1): Show | 8 | 391 | 0.0205 | 3 | c.*13 others(14): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1258 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 833278 | T | TAAG | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01081.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0036a0001c0002t0001g0030others(2): Show | 7 | 391 | 0.0179 | 3 | c.*14 others(14): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1261 | chr19 | TogoVar | ||||||
B2M_chr15_44706517_44723145 | 44721696 | G | GCAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00558.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0013a0001c0001t0001g0019a0001c0001t0002g0002others(7): Show | 34 | 385 | 0.0883 | 3 | c.*41 others(14): Show |
B2M | ENSG00000166710.23 | transcript | ENST00000648006.3 | protein_coding | 3552 | chr15 | TogoVar | ||||||
B3GALNT1_chr3_161078883_161110349 | 161092763 | C | CTTT | intron_variant | MODIFIER | HG01257.hp2 HG01891.hp1 HG02109.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0013 | a0001c0001t0001g0036a0001c0001t0001g0094a0001c0001t0001g0104others(3): Show | 10 | 400 | 0.0250 | 3 | c.-34 others(20): Show |
B3GALNT1 | ENSG00000169255.15 | transcript | ENST00000320474.10 | protein_coding | 4/4 | chr3 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235448220 | C | CAAA | 3_prime_UTR_variant | MODIFIER | HG00741.hp2 HG01243.hp2 HG01361.hp1 others(25): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0006a0001c0002t0008a0001c0002t0018others(5): Show | a0001c0002t0006g0281a0001c0002t0006g0285a0001c0002t0006g0304others(24): Show | 28 | 344 | 0.0814 | 3 | c.*19 others(14): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 12/12 | 1985 | chr1 | TogoVar | |||||
B3GALNT2_chr1_235442190_235509452 | 235455137 | A | ATTG | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp2 HG01109.hp1 others(35): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0006a0001c0002t0008a0001c0002t0014others(11): Show | a0001c0002t0006g0281a0001c0002t0006g0285a0001c0002t0006g0304others(33): Show | 38 | 344 | 0.1105 | 3 | c.115 others(20): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 9/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235464332 | T | TAAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(239): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(52): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0013others(234): Show | 242 | 344 | 0.7035 | 3 | c.841 others(20): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 7/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235474988 | T | TATA | intron_variant | MODIFIER | HG01081.hp1 HG01358.hp1 HG01516.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0028 | a0001c0001t0001g0198a0001c0002t0003g0266a0001c0002t0003g0271others(5): Show | 8 | 344 | 0.0233 | 3 | c.652 others(20): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235505693 | G | GTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00558.hp2 others(62): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0035a0001c0001t0040a0001c0001t0048others(17): Show | a0001c0001t0035g0093a0001c0001t0040g0106a0001c0001t0048g0105others(62): Show | 65 | 344 | 0.1890 | 3 | c.-14 others(14): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 1242 | chr1 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167291987 | C | CTTT | upstream_gene_variant | MODIFIER | HG02040.hp1 HG02257.hp2 HG03209.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(4): Show | a0001c0001t0001g0015a0001c0001t0004g0013a0001c0001t0014g0017others(4): Show | 7 | 118 | 0.0593 | 3 | c.-18 others(14): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1013 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167330194 | C | CCAG | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0010a0001c0001t0018others(2): Show | a0001c0001t0002g0094a0001c0001t0010g0092a0001c0001t0018g0093others(2): Show | 5 | 118 | 0.0424 | 3 | c.-51 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167339725 | A | ATAT | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0010a0001c0001t0018others(2): Show | a0001c0001t0002g0094a0001c0001t0010g0092a0001c0001t0018g0093others(2): Show | 5 | 118 | 0.0424 | 3 | c.-51 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167389923 | A | AAAC | intron_variant | MODIFIER | HG01258.hp1 HG01258.hp2 NA18968.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0004g0064a0001c0001t0006g0106a0001c0001t0007g0100others(1): Show | 4 | 118 | 0.0339 | 3 | c.-51 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167411224 | T | TAAC | intron_variant | MODIFIER | HG00673.hp1 HG02040.hp2 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0042a0001c0001t0047 | a0001c0001t0019g0020a0001c0001t0042g0074a0001c0001t0047g0019 | 3 | 118 | 0.0254 | 3 | c.-51 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167453581 | C | CTGT | intron_variant | MODIFIER | HG00673.hp1 HG01346.hp2 HG01891.hp2 others(25): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0023others(25): Show | 28 | 118 | 0.2373 | 3 | c.-51 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167486862 | A | AAGT | intron_variant | MODIFIER | HG01106.hp2 HG02109.hp1 HG02258.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0015others(5): Show | a0001c0001t0002g0010a0001c0001t0002g0011a0001c0001t0002g0094others(7): Show | 10 | 118 | 0.0848 | 3 | c.-51 others(22): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167500583 | G | GATA | intron_variant | MODIFIER | HG01106.hp2 HG02109.hp1 HG02257.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0015others(6): Show | a0001c0001t0002g0010a0001c0001t0002g0011a0001c0001t0002g0094others(8): Show | 11 | 118 | 0.0932 | 3 | c.-41 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167500635 | G | GAAA | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015a0001c0001t0018others(3): Show | a0001c0001t0002g0094a0001c0001t0015g0079a0001c0001t0018g0093others(3): Show | 6 | 118 | 0.0509 | 3 | c.-41 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167500635 | G | GGAA | intron_variant | MODIFIER | HG01106.hp2 HG02109.hp1 HG02258.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0016others(1): Show | a0001c0001t0002g0010a0001c0001t0002g0011a0001c0001t0011g0050others(2): Show | 5 | 118 | 0.0424 | 3 | c.-41 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167518019 | T | TACA | intron_variant | MODIFIER | NA18968.hp2 NA19007.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0020 | a0001c0001t0001g0076a0001c0001t0004g0014a0001c0001t0020g0063 | 3 | 118 | 0.0254 | 3 | c.-41 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167537825 | C | CTTT | intron_variant | MODIFIER | HG01255.hp2 HG01891.hp2 HG02109.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0062a0001c0001t0002g0029a0001c0001t0002g0049others(14): Show | 17 | 118 | 0.1441 | 3 | c.-41 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167545023 | C | CTTT | intron_variant | MODIFIER | HG01255.hp2 HG01258.hp2 HG02280.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0007a0001c0001t0001g0023a0001c0001t0001g0062others(12): Show | 15 | 118 | 0.1271 | 3 | c.-41 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167563651 | C | CAGG | intron_variant | MODIFIER | HG02886.hp1 HG02922.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(1): Show | a0001c0001t0001g0003a0001c0001t0002g0029a0001c0001t0018g0060others(1): Show | 4 | 118 | 0.0339 | 3 | c.-41 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167563652 | G | GGGC | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(103): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0023others(103): Show | 106 | 118 | 0.8983 | 3 | c.-41 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167563652 | G | GGGT | intron_variant | MODIFIER | HG00673.hp2 NA18968.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0020 | a0001c0001t0001g0078a0001c0001t0004g0014a0001c0001t0020g0063 | 3 | 118 | 0.0254 | 3 | c.-41 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |