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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AXL_chr19_41214223_41266766 | 41256080 | G | GGTGT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp1 others(58): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0016a0001c0001t0002g0003a0001c0001t0002g0136others(52): Show | 61 | 314 | 0.1943 | 4 | c.203 others(21): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AXL_chr19_41214223_41266766 | 41260298 | C | CTTTT | 3_prime_UTR_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01099.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0027 | a0001c0001t0010g0012a0001c0001t0010g0084a0001c0001t0010g0092others(7): Show | 11 | 314 | 0.0350 | 4 | c.*42 others(13): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 20/20 | 426 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AXL_chr19_41214223_41266766 | 41261990 | G | GACAC | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(55): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0016a0001c0001t0002g0003a0001c0001t0002g0136others(49): Show | 58 | 314 | 0.1847 | 4 | c.*20 others(15): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 225 | chr19 | TogoVar | ||||||
AZGP1_chr7_99961730_99981031 | 99968962 | C | CAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00609.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0022a0001c0001t0001g0050a0001c0001t0001g0116others(11): Show | 26 | 432 | 0.0602 | 4 | c.338 others(19): Show |
AZGP1 | ENSG00000160862.13 | transcript | ENST00000292401.9 | protein_coding | 2/3 | chr7 | TogoVar | ||||||
AZI2_chr3_28316047_28353824 | 28352126 | G | GCACA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00544.hp2 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0016others(41): Show | 56 | 360 | 0.1556 | 4 | c.-35 others(15): Show |
AZI2 | ENSG00000163512.14 | transcript | ENST00000479665.6 | protein_coding | 3303 | chr3 | TogoVar | ||||||
AZI2_chr3_28316047_28353824 | 28352135 | C | CACAT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00735.hp1 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0024others(16): Show | 55 | 360 | 0.1528 | 4 | c.-35 others(15): Show |
AZI2 | ENSG00000163512.14 | transcript | ENST00000479665.6 | protein_coding | 3312 | chr3 | TogoVar | ||||||
AZIN1_chr8_102821308_102869163 | 102822170 | T | TCACA | downstream_gene_variant | MODIFIER | HG00597.hp2 HG00741.hp2 HG01071.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0021others(13): Show | 19 | 380 | 0.0500 | 4 | c.*63 others(15): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 4137 | chr8 | TogoVar | ||||||
AZIN1_chr8_102821308_102869163 | 102830658 | A | AAAAG | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG01123.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0027a0001c0001t0006g0151a0001c0001t0006g0152others(12): Show | 16 | 380 | 0.0421 | 4 | c.905 others(19): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 9/11 | chr8 | TogoVar | ||||||
AZIN1_chr8_102821308_102869163 | 102841805 | T | TAAAA | intron_variant | MODIFIER | NA18953.hp1 NA18967.hp1 NA18991.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0010 | a0001c0003t0002g0209a0001c0003t0002g0212a0001c0003t0002g0213others(4): Show | 7 | 380 | 0.0184 | 4 | c.102 others(21): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 3/11 | chr8 | TogoVar | ||||||
AZIN1_chr8_102821308_102869163 | 102854626 | A | ATTTT | intron_variant | MODIFIER | HG00642.hp1 HG01081.hp1 HG01099.hp1 others(21): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0003 | a0001c0001t0003g0002a0001c0001t0003g0141a0001c0001t0003g0142others(12): Show | 24 | 380 | 0.0632 | 4 | c.-96 others(21): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 2/11 | chr8 | TogoVar | ||||||
AZIN2_chr1_33076153_33128492 | 33100564 | C | CGTGT | intron_variant | MODIFIER | HG01891.hp1 HG03130.hp1 HG03195.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0022 | a0001c0001t0006g0009a0001c0001t0006g0017a0001c0001t0006g0043others(2): Show | 7 | 322 | 0.0217 | 4 | c.102 others(23): Show |
AZIN2 | ENSG00000142920.18 | transcript | ENST00000294517.11 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AZIN2_chr1_33076153_33128492 | 33104543 | C | CATAT | intron_variant | MODIFIER | HG01069.hp2 HG02257.hp1 HG02451.hp2 others(4): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0006a0001c0001t0011a0001c0001t0020others(1): Show | a0001c0001t0006g0042a0001c0001t0011g0018a0001c0001t0011g0046others(3): Show | 7 | 322 | 0.0217 | 4 | c.102 others(23): Show |
AZIN2 | ENSG00000142920.18 | transcript | ENST00000294517.11 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AZIN2_chr1_33076153_33128492 | 33105403 | A | AATTC | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG02280.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0013 | a0001c0001t0008g0015a0001c0001t0013g0036 | 5 | 322 | 0.0155 | 4 | c.102 others(23): Show |
AZIN2 | ENSG00000142920.18 | transcript | ENST00000294517.11 | protein_coding | 10/11 | chr1 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 823120 | A | AAAAC | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG00639.hp2 others(29): Show |
a0001a0002a0005 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(3): Show | a0001c0002t0001g0004a0001c0002t0001g0016a0001c0002t0001g0028others(18): Show | 32 | 391 | 0.0818 | 4 | c.-47 others(15): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 4716 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 829936 | A | ATGTG | intron_variant | MODIFIER | HG01192.hp1 HG01496.hp2 HG02145.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0037a0001c0003t0001g0042a0001c0003t0001g0068others(2): Show | 11 | 391 | 0.0281 | 4 | c.360 others(19): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AZU1_chr19_822837_837018 | 835437 | C | CGCGT | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02280.hp2 others(6): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0001a0001c0003t0001a0001c0004t0001 | a0001c0002t0001g0006a0001c0003t0001g0002a0001c0003t0001g0031others(3): Show | 9 | 391 | 0.0230 | 4 | c.*35 others(15): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3420 | chr19 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235443183 | C | CATAT | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01106.hp2 HG01109.hp1 others(35): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0006a0001c0002t0008a0001c0002t0014others(11): Show | a0001c0002t0006g0281a0001c0002t0006g0285a0001c0002t0006g0304others(33): Show | 38 | 344 | 0.1105 | 4 | c.*70 others(15): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 4006 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235443185 | C | CATAT | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01109.hp2 HG01255.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0001c0001t0011a0001c0001t0022others(4): Show | a0001c0001t0005g0208a0001c0001t0005g0210a0001c0001t0005g0221others(16): Show | 19 | 344 | 0.0552 | 4 | c.*70 others(15): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 4004 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235448220 | C | CAAAA | 3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02145.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0014a0001c0002t0063a0001c0002t0064others(1): Show | a0001c0002t0014g0005a0001c0002t0014g0319a0001c0002t0014g0327others(3): Show | 7 | 344 | 0.0204 | 4 | c.*19 others(15): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 12/12 | 1985 | chr1 | TogoVar | |||||
B3GALNT2_chr1_235442190_235509452 | 235449079 | C | CAGTT | 3_prime_UTR_variant | MODIFIER | HG00741.hp2 HG01106.hp2 HG01109.hp1 others(35): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0006a0001c0002t0008a0001c0002t0014others(11): Show | a0001c0002t0006g0281a0001c0002t0006g0285a0001c0002t0006g0304others(33): Show | 38 | 344 | 0.1105 | 4 | c.*11 others(15): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 12/12 | 1126 | chr1 | TogoVar | |||||
B3GALNT2_chr1_235442190_235509452 | 235457111 | A | AAAAT | intron_variant | MODIFIER | HG02083.hp1 NA18522.hp2 NA18977.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0045 | a0001c0001t0001g0095a0001c0001t0001g0132a0001c0001t0001g0151others(3): Show | 6 | 344 | 0.0174 | 4 | c.102 others(23): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 8/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235460115 | C | CTCTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(340): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(69): Show | a0001c0001t0001g0003a0001c0001t0001g0095a0001c0001t0001g0108others(334): Show | 343 | 344 | 0.9971 | 4 | c.842 others(21): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 7/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235474950 | C | CATAT | intron_variant | MODIFIER | HG02055.hp1 NA18983.hp2 NA18984.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0013a0001c0002t0029 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0013g0158others(1): Show | 4 | 344 | 0.0116 | 4 | c.652 others(21): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235476411 | T | TAAAC | intron_variant | MODIFIER | HG00738.hp2 HG01070.hp1 HG01071.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0023a0001c0001t0046 | a0001c0001t0004g0206a0001c0001t0004g0207a0001c0001t0004g0237others(6): Show | 9 | 344 | 0.0262 | 4 | c.651 others(21): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235505693 | G | GTTTT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG00733.hp2 others(113): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(17): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0013others(111): Show | 116 | 344 | 0.3372 | 4 | c.-14 others(15): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 1242 | chr1 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167291987 | C | CTTTT | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00738.hp1 HG00741.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0023others(37): Show | 40 | 118 | 0.3390 | 4 | c.-18 others(15): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1013 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167295768 | C | CGTGT | intron_variant | MODIFIER | HG03927.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0113a0001c0001t0003g0114 | 2 | 118 | 0.0170 | 4 | c.-51 others(23): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167323106 | T | TCAAA | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG00673.hp2 others(95): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0015others(95): Show | 98 | 118 | 0.8305 | 4 | 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 | 167323436 | T | TTAAA | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG00673.hp2 others(86): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0015others(86): Show | 89 | 118 | 0.7542 | 4 | 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 | 167330283 | G | GACCT | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0010a0001c0001t0018others(2): Show | a0001c0001t0002g0094a0001c0001t0010g0092a0001c0001t0018g0093others(2): Show | 5 | 118 | 0.0424 | 4 | c.-51 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167338480 | T | TTAAA | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG00673.hp2 others(73): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0032others(73): Show | 76 | 118 | 0.6441 | 4 | 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 | 167357030 | G | GTATA | intron_variant | MODIFIER | HG02258.hp1 HG02896.hp1 HG02922.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0003a0001c0001t0002g0018a0001c0001t0002g0094others(9): Show | 12 | 118 | 0.1017 | 4 | 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 | 167357030 | G | GTGTA | intron_variant | MODIFIER | HG00673.hp1 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0047 | a0001c0001t0019g0020a0001c0001t0047g0019 | 2 | 118 | 0.0170 | 4 | 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 | 167365585 | T | TACAC | intron_variant | MODIFIER | HG01346.hp1 HG01891.hp1 HG02280.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0023a0001c0001t0001g0046a0001c0001t0002g0029others(4): Show | 7 | 118 | 0.0593 | 4 | 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 | 167369061 | T | TTGTG | intron_variant | MODIFIER | HG01255.hp1 HG01346.hp2 HG01496.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0032a0001c0001t0003g0028a0001c0001t0005g0051others(6): Show | 9 | 118 | 0.0763 | 4 | 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 | 167390792 | C | CTGAA | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp2 others(68): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0046others(68): Show | 71 | 118 | 0.6017 | 4 | 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 | 167397196 | C | CTTCA | intron_variant | MODIFIER | NA18968.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0020 | a0001c0001t0004g0014a0001c0001t0020g0063 | 2 | 118 | 0.0170 | 4 | 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 | 167400166 | C | CTGTG | intron_variant | MODIFIER | HG02258.hp1 HG02717.hp1 HG02896.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0018a0001c0001t0002g0094a0001c0001t0004g0014others(7): Show | 10 | 118 | 0.0848 | 4 | 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 | 167408807 | A | AAAAC | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp2 others(69): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0015a0001c0001t0001g0046a0001c0001t0001g0062others(69): Show | 72 | 118 | 0.6102 | 4 | 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 | 167435089 | T | TAGTC | intron_variant | MODIFIER | HG00673.hp1 HG00741.hp2 HG01081.hp1 others(24): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0003a0001c0001t0001g0043a0001c0001t0002g0018others(24): Show | 27 | 118 | 0.2288 | 4 | 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 | 167443524 | A | ATTTG | intron_variant | MODIFIER | HG03225.hp1 HG03453.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0030 | a0001c0001t0002g0018a0001c0001t0010g0092a0001c0001t0030g0072 | 3 | 118 | 0.0254 | 4 | 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 | 167491483 | C | CTTTT | intron_variant | MODIFIER | HG01255.hp1 HG01496.hp1 HG02683.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(5): Show | a0001c0001t0001g0043a0001c0001t0001g0098a0001c0001t0006g0071others(6): Show | 9 | 118 | 0.0763 | 4 | c.-41 others(23): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167492877 | A | ATGTG | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG00738.hp1 others(61): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0023others(61): Show | 64 | 118 | 0.5424 | 4 | c.-41 others(23): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167521980 | G | GTATA | intron_variant | MODIFIER | HG01081.hp2 HG01169.hp1 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0029others(1): Show | a0001c0001t0005g0051a0001c0001t0005g0058a0001c0001t0008g0080others(2): Show | 5 | 118 | 0.0424 | 4 | c.-41 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167521982 | G | GTATA | intron_variant | MODIFIER | HG03225.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0012a0001c0001t0007g0100 | 2 | 118 | 0.0170 | 4 | c.-41 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167521984 | G | GTATA | intron_variant | MODIFIER | HG03098.hp1 HG03453.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0030others(1): Show | a0001c0001t0001g0007a0001c0001t0002g0018a0001c0001t0030g0072others(1): Show | 4 | 118 | 0.0339 | 4 | c.-41 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167537825 | C | CTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG03654.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0009others(2): Show | a0001c0001t0003g0002a0001c0001t0006g0040a0001c0001t0006g0089others(3): Show | 6 | 118 | 0.0509 | 4 | c.-41 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167541679 | C | CCTGT | intron_variant | MODIFIER | HG01169.hp2 HG02257.hp1 HG02257.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0076a0001c0001t0002g0001a0001c0001t0002g0029others(13): Show | 16 | 118 | 0.1356 | 4 | c.-41 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167545023 | C | CTTTT | intron_variant | MODIFIER | HG00558.hp2 HG00741.hp1 HG01891.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0105a0001c0001t0001g0108a0001c0001t0002g0018others(14): Show | 17 | 118 | 0.1441 | 4 | c.-41 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167548685 | A | AGTGT | intron_variant | MODIFIER | HG01255.hp1 HG01258.hp2 HG02040.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0002g0073a0001c0001t0002g0113a0001c0001t0004g0013others(4): Show | 7 | 118 | 0.0593 | 4 | c.-41 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |