| 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 | 326368 | AAAAAAT | A | intron_variant | MODIFIER | HG02622.hp1 HG02818.hp1 HG03041.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072a0001c0001t0001g0188a0001c0001t0001g0196others(4): Show | 7 | 378 | 0.0185 | -6 | c.879 others(25): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
| AXIN1_chr16_282440_357723 | 326370 | AAAATAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00741.hp1 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(1): Show | a0001c0001t0001g0083a0001c0001t0001g0184a0001c0001t0001g0195others(15): Show | 18 | 378 | 0.0476 | -6 | c.879 others(25): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
| AXIN1_chr16_282440_357723 | 326372 | AATATAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00621.hp1 others(73): Show |
a0001a0007a0009 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(10): Show | a0001c0001t0001g0084a0001c0001t0001g0185a0001c0001t0001g0202others(72): Show | 76 | 378 | 0.2011 | -6 | c.879 others(25): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
| AXIN1_chr16_282440_357723 | 339196 | CAAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 NA18952.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0088a0001c0002t0001g0119a0001c0002t0001g0120others(4): Show | 7 | 378 | 0.0185 | -6 | c.878 others(23): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
| AXIN2_chr17_65523563_65566648 | 65538667 | CAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(70): Show |
a0001a0002a0007 | a0001c0002a0001c0004a0001c0006others(4): Show | a0001c0002t0001a0001c0004t0001a0001c0004t0002others(7): Show | a0001c0002t0001g0275a0001c0002t0001g0284a0001c0002t0001g0285others(54): Show | 73 | 402 | 0.1816 | -6 | c.106 others(23): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 4/10 | chr17 | TogoVar | ||||||
| AXIN2_chr17_65523563_65566648 | 65564088 | TCACACA | T | upstream_gene_variant | MODIFIER | HG02135.hp2 HG02559.hp1 HG02922.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0017 | a0001c0003t0001g0013a0001c0003t0001g0198a0001c0003t0001g0249others(3): Show | 7 | 402 | 0.0174 | -6 | c.-27 others(17): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 2441 | chr17 | TogoVar | ||||||
| AXL_chr19_41214223_41266766 | 41221326 | GGGTCAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG01074.hp1 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0002g0220a0001c0001t0002g0222a0001c0001t0002g0269others(37): Show | 40 | 314 | 0.1274 | -6 | c.409 others(19): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| AXL_chr19_41214223_41266766 | 41260298 | CTTTTTT | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00558.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0051 | a0001c0001t0002g0003a0001c0001t0002g0136a0001c0001t0002g0144others(41): Show | 49 | 314 | 0.1561 | -6 | c.*42 others(15): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 20/20 | 420 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
| AZI2_chr3_28316047_28353824 | 28342711 | GCACACA | G | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00558.hp1 others(68): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0031others(27): Show | 71 | 360 | 0.1972 | -6 | c.-5- others(21): Show |
AZI2 | ENSG00000163512.14 | transcript | ENST00000479665.6 | protein_coding | 1/7 | chr3 | TogoVar | ||||||
| AZIN1_chr8_102821308_102869163 | 102822170 | TCACACA | T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01123.hp1 HG01175.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0009a0001c0001t0001g0023a0001c0001t0001g0063others(14): Show | 18 | 380 | 0.0474 | -6 | c.*63 others(17): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 4137 | chr8 | TogoVar | ||||||
| AZIN1_chr8_102821308_102869163 | 102830663 | GAAAAGA | G | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG01081.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0002t0004a0001c0004t0003 | a0001c0001t0003g0002a0001c0001t0003g0028a0001c0001t0003g0141others(20): Show | 33 | 380 | 0.0868 | -6 | c.905 others(21): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 9/11 | chr8 | TogoVar | ||||||
| AZU1_chr19_822837_837018 | 829936 | ATGTGTG | A | intron_variant | MODIFIER | HG02109.hp2 HG02630.hp1 HG02647.hp2 others(7): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(2): Show | a0001c0002t0001g0008a0001c0002t0002g0008a0001c0003t0001g0050others(3): Show | 10 | 391 | 0.0256 | -6 | c.360 others(21): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| AZU1_chr19_822837_837018 | 833243 | GATAATA | G | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02132.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0022a0001c0002t0001g0002others(6): Show | 16 | 391 | 0.0409 | -6 | c.*13 others(17): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1226 | chr19 | TogoVar | ||||||
| AZU1_chr19_822837_837018 | 833275 | TAATAAG | T | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01346.hp1 HG01981.hp2 others(5): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(1): Show | a0001c0002t0001g0002a0001c0002t0001g0016a0001c0002t0002g0016others(3): Show | 8 | 391 | 0.0205 | -6 | c.*13 others(17): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1258 | chr19 | TogoVar | ||||||
| AZU1_chr19_822837_837018 | 833278 | TAAGAAG | T | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00673.hp2 HG00741.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0002t0001a0002c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0082a0001c0002t0001g0003others(9): Show | 17 | 391 | 0.0435 | -6 | c.*14 others(17): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1261 | chr19 | TogoVar | ||||||
| B2M_chr15_44706517_44723145 | 44721362 | GACACAC | G | downstream_gene_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG01074.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0039others(3): Show | 46 | 385 | 0.1195 | -6 | c.*37 others(17): Show |
B2M | ENSG00000166710.23 | transcript | ENST00000648006.3 | protein_coding | 3218 | chr15 | TogoVar | ||||||
| B3GALNT2_chr1_235442190_235509452 | 235474950 | CATATAT | C | intron_variant | MODIFIER | HG00733.hp1 HG02015.hp1 HG02071.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(3): Show | a0001c0001t0002g0024a0001c0001t0002g0026a0001c0001t0002g0031others(25): Show | 28 | 344 | 0.0814 | -6 | c.652 others(23): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| B3GALNT2_chr1_235442190_235509452 | 235488692 | CAAAAAA | C | intron_variant | MODIFIER | HG00733.hp1 HG01109.hp2 HG01255.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0001c0001t0011a0001c0001t0022others(4): Show | a0001c0001t0005g0208a0001c0001t0005g0210a0001c0001t0005g0221others(17): Show | 20 | 344 | 0.0581 | -6 | c.361 others(21): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 3/11 | chr1 | TogoVar | ||||||
| B3GALT1_chr2_167288001_167879045 | 167288538 | GACACAC | G | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(4): Show | a0001c0001t0001g0007a0001c0001t0002g0010a0001c0001t0002g0011others(5): Show | 8 | 118 | 0.0678 | -6 | c.-53 others(17): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 4462 | chr2 | TogoVar | ||||||
| B3GALT1_chr2_167288001_167879045 | 167295768 | CGTGTGT | C | intron_variant | MODIFIER | HG00558.hp1 HG00738.hp1 HG00741.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0032a0001c0001t0001g0043a0001c0001t0002g0029others(16): Show | 19 | 118 | 0.1610 | -6 | c.-51 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| B3GALT1_chr2_167288001_167879045 | 167303644 | TACACAC | T | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02258.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0007a0001c0001t0002g0010a0001c0001t0002g0011others(6): Show | 9 | 118 | 0.0763 | -6 | c.-51 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| B3GALT1_chr2_167288001_167879045 | 167325702 | CTTTTTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02258.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0007a0001c0001t0002g0010a0001c0001t0002g0011others(6): Show | 9 | 118 | 0.0763 | -6 | c.-51 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| B3GALT1_chr2_167288001_167879045 | 167365585 | TACACAC | T | intron_variant | MODIFIER | HG01255.hp1 NA18953.hp1 NA19056.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0023others(1): Show | a0001c0001t0004g0065a0001c0001t0009g0096a0001c0001t0023g0037others(1): Show | 4 | 118 | 0.0339 | -6 | c.-51 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| B3GALT1_chr2_167288001_167879045 | 167396534 | ATGTGTG | A | intron_variant | MODIFIER | NA19030.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0037 | a0001c0001t0028g0056a0001c0001t0037g0044 | 2 | 118 | 0.0170 | -6 | c.-51 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| B3GALT1_chr2_167288001_167879045 | 167408015 | GACACAC | G | intron_variant | MODIFIER | HG00673.hp1 HG01255.hp1 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(3): Show | a0001c0001t0001g0043a0001c0001t0002g0049a0001c0001t0019g0020others(3): Show | 6 | 118 | 0.0509 | -6 | c.-51 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| B3GALT1_chr2_167288001_167879045 | 167411224 | TAACAAC | T | intron_variant | MODIFIER | HG01346.hp2 HG01891.hp2 HG02257.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0007a0001c0001t0001g0023a0001c0001t0001g0032others(13): Show | 16 | 118 | 0.1356 | -6 | c.-51 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| B3GALT1_chr2_167288001_167879045 | 167411378 | CAAAAAA | C | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp2 others(66): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0015a0001c0001t0001g0046a0001c0001t0001g0062others(66): Show | 69 | 118 | 0.5848 | -6 | c.-51 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| B3GALT1_chr2_167288001_167879045 | 167435433 | CAAAAAA | C | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01106.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(7): Show | a0001c0001t0002g0049a0001c0001t0002g0052a0001c0001t0003g0027others(8): Show | 11 | 118 | 0.0932 | -6 | c.-51 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| B3GALT1_chr2_167288001_167879045 | 167506772 | GTTGGAT | G | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(85): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0015others(85): Show | 88 | 118 | 0.7458 | -6 | c.-41 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| B3GALT1_chr2_167288001_167879045 | 167512588 | ATATGTG | A | intron_variant | MODIFIER | NA18968.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0020 | a0001c0001t0004g0014a0001c0001t0020g0063 | 2 | 118 | 0.0170 | -6 | c.-41 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| B3GALT1_chr2_167288001_167879045 | 167512615 | TATATAC | T | intron_variant | MODIFIER | HG01169.hp2 HG02257.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0011 | a0001c0001t0002g0001a0001c0002t0011g0090 | 2 | 118 | 0.0170 | -6 | c.-41 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | chr2 | TogoVar | ||||||
| B3GALT1_chr2_167288001_167879045 | 167512618 | ATACGTG | A | intron_variant | MODIFIER | NA18947.hp1 NA18947.hp2 NA18948.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013a0001c0001t0049 | a0001c0001t0004g0064a0001c0001t0013g0039a0001c0001t0013g0066others(1): Show | 4 | 118 | 0.0339 | -6 | c.-41 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| B3GALT1_chr2_167288001_167879045 | 167521984 | GTATATA | G | intron_variant | MODIFIER | HG01169.hp2 HG02257.hp1 HG02257.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0015a0001c0001t0018others(4): Show | a0001c0001t0002g0001a0001c0001t0002g0094a0001c0001t0015g0079others(5): Show | 8 | 118 | 0.0678 | -6 | c.-41 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| B3GALT1_chr2_167288001_167879045 | 167545023 | CTTTTTT | C | intron_variant | MODIFIER | HG00673.hp2 HG01081.hp2 HG01169.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0046a0001c0001t0001g0068others(21): Show | 24 | 118 | 0.2034 | -6 | c.-41 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| B3GALT1_chr2_167288001_167879045 | 167548685 | AGTGTGT | A | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02280.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0023a0001c0001t0002g0049a0001c0001t0002g0052others(10): Show | 13 | 118 | 0.1102 | -6 | c.-41 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| B3GALT1_chr2_167288001_167879045 | 167651269 | TGTGCGC | T | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0032others(51): Show | 54 | 118 | 0.4576 | -6 | c.-35 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| B3GALT1_chr2_167288001_167879045 | 167676516 | TACACAC | T | intron_variant | MODIFIER | HG02615.hp1 HG02647.hp2 HG02717.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0021others(1): Show | a0001c0001t0002g0052a0001c0001t0002g0070a0001c0001t0002g0073others(4): Show | 7 | 118 | 0.0593 | -6 | c.-35 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| B3GALT1_chr2_167288001_167879045 | 167699380 | ATTTTTT | A | intron_variant | MODIFIER | HG00673.hp2 HG00738.hp1 HG02040.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0032a0001c0001t0001g0046a0001c0001t0001g0062others(12): Show | 15 | 118 | 0.1271 | -6 | c.-35 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| B3GALT1_chr2_167288001_167879045 | 167753995 | ATGCCAG | A | intron_variant | MODIFIER | HG03831.hp2 HG04204.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0050 | a0001c0001t0007g0042a0001c0001t0007g0100a0001c0001t0050g0118 | 3 | 118 | 0.0254 | -6 | c.-35 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| B3GALT1_chr2_167288001_167879045 | 167852467 | GGTGTGT | G | intron_variant | MODIFIER | HG01255.hp1 HG01261.hp1 HG02257.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0023others(5): Show | a0001c0001t0002g0094a0001c0001t0011g0050a0001c0001t0023g0037others(5): Show | 8 | 118 | 0.0678 | -6 | c.-22 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| B3GALT1_chr2_167288001_167879045 | 167875961 | TTATATA | T | downstream_gene_variant | MODIFIER | HG00558.hp2 HG02040.hp1 HG03209.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0001g0076a0001c0001t0004g0013a0001c0001t0004g0014others(9): Show | 12 | 118 | 0.1017 | -6 | c.*59 others(17): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1917 | chr2 | TogoVar | ||||||
| B3GALT5_chr21_39607940_39678137 | 39639394 | CTTTCTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG01099.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(3): Show | a0001c0001t0002g0128a0001c0001t0002g0194a0001c0001t0002g0230others(8): Show | 11 | 336 | 0.0327 | -6 | c.-39 others(25): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| B3GALT9_chr9_120788467_120806787 | 120794506 | TTGTGTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00639.hp1 others(18): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0006a0001c0001t0002g0006a0001c0001t0002g0036others(7): Show | 21 | 404 | 0.0520 | -6 | c.-18 others(23): Show |
B3GALT9 | ENSG00000214654.9 | transcript | ENST00000689072.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| B3GAT1_chr11_134373508_134417242 | 134403979 | TTCTTTA | T | intron_variant | MODIFIER | HG01891.hp2 HG02559.hp2 HG02809.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0001c0001t0045a0002c0002t0001 | a0001c0001t0010g0189a0001c0001t0045g0223a0002c0002t0001g0190others(2): Show | 5 | 352 | 0.0142 | -6 | c.-28 others(25): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
| B3GAT1_chr11_134373508_134417242 | 134403983 | TTATATA | T | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00741.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0106a0001c0001t0001g0170a0001c0001t0001g0218others(10): Show | 13 | 352 | 0.0369 | -6 | c.-28 others(25): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
| B3GAT1_chr11_134373508_134417242 | 134411670 | GCACACA | G | intron_variant | MODIFIER | HG01109.hp2 HG02572.hp1 HG02717.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0044others(2): Show | a0001c0001t0002g0277a0001c0001t0004g0248a0001c0001t0044g0057others(4): Show | 7 | 352 | 0.0199 | -6 | c.-28 others(23): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
| B3GAT2_chr6_70851679_70962060 | 70855050 | TCATATA | T | downstream_gene_variant | MODIFIER | HG00423.hp2 HG01069.hp1 HG01069.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(9): Show | a0001c0001t0001g0042a0001c0001t0004g0136a0001c0001t0009g0083others(10): Show | 13 | 316 | 0.0411 | -6 | c.*66 others(17): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1628 | chr6 | TogoVar | ||||||
| B3GAT2_chr6_70851679_70962060 | 70871216 | TTTTTTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp2 others(69): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(21): Show | a0001c0001t0001g0042a0001c0001t0001g0044a0001c0001t0001g0046others(68): Show | 72 | 316 | 0.2279 | -6 | c.737 others(23): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 2/3 | chr6 | TogoVar | ||||||
| B3GAT2_chr6_70851679_70962060 | 70891748 | TTGTGTG | T | intron_variant | MODIFIER | HG03098.hp1 HG03927.hp1 NA18974.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0026a0001c0002t0042others(1): Show | a0001c0001t0013g0141a0001c0002t0026g0243a0001c0002t0042g0295others(1): Show | 4 | 316 | 0.0127 | -6 | c.736 others(23): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 2/3 | chr6 | TogoVar | ||||||
| B3GAT2_chr6_70851679_70962060 | 70959038 | CTGTGTG | C | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01167.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0009others(5): Show | a0001c0001t0003g0102a0001c0001t0003g0125a0001c0001t0003g0126others(8): Show | 11 | 316 | 0.0348 | -6 | c.-26 others(17): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1979 | chr6 | TogoVar |