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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AVL9_chr7_32490489_32593726 | 32551624 | T | TTTTTTTT others(3): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0099 | a0001c0001t0099g0256 | 1 | 330 | 0.0030 | 10 | c.462 others(25): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 5/15 | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32572801 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03516.hp2 |
a0001 | a0001c0007 | a0001c0007t0016 | a0001c0007t0016g0055a0001c0007t0016g0056 | 2 | 330 | 0.0061 | 10 | c.135 others(27): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32575089 | T | TTTTTGTT others(3): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0007 | a0001c0007t0016 | a0001c0007t0016g0055a0001c0007t0016g0056a0001c0007t0016g0306others(2): Show | 5 | 330 | 0.0152 | 10 | c.157 others(27): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVPI1_chr10_97672424_97692241 | 97678880 | G | GGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01358.hp2 HG02074.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0205a0001c0001t0001g0286a0001c0001t0002g0064others(5): Show | 12 | 446 | 0.0269 | 10 | c.287 others(25): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | ||||||
AVPI1_chr10_97672424_97692241 | 97678942 | T | TGGCGGGG others(3): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0126 | 1 | 446 | 0.0022 | 10 | c.287 others(25): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | ||||||
AVPR1B_chr1_206101936_206122388 | 206122048 | T | TTGTGTGT others(3): Show |
upstream_gene_variant | MODIFIER | HG02071.hp2 HG03540.hp2 NA18954.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0023 | a0001c0001t0001g0001a0001c0001t0001g0026a0001c0004t0023g0031 | 3 | 396 | 0.0076 | 10 | c.-51 others(21): Show |
AVPR1B | ENSG00000198049.7 | transcript | ENST00000367126.5 | protein_coding | 4661 | chr1 | TogoVar | ||||||
AWAT2_chrX_70035542_70054938 | 70054673 | C | CTGGCTGC others(3): Show |
upstream_gene_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 338 | 0.0030 | 10 | c.-47 others(21): Show |
AWAT2 | ENSG00000147160.9 | transcript | ENST00000276101.7 | protein_coding | 4736 | chrX | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179455868 | G | GTTTGTTT others(3): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG03209.hp1 |
a0003a0009 | a0003c0004a0009c0013 | a0003c0004t0001a0009c0013t0001 | a0003c0004t0001g0184a0009c0013t0001g0097a0009c0013t0001g0098 | 3 | 356 | 0.0084 | 10 | c.179 others(31): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179500337 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02080.hp1 HG02109.hp1 others(5): Show |
a0001 | a0001c0002a0001c0003a0001c0007others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0007t0001others(1): Show | a0001c0002t0001g0160a0001c0002t0001g0161a0001c0003t0001g0071others(5): Show | 8 | 356 | 0.0225 | 10 | c.238 others(29): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 20/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179525808 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0279 | 1 | 356 | 0.0028 | 10 | c.261 others(27): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 22/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXIN1_chr16_282440_357723 | 320743 | A | ATATTTTT others(3): Show |
intron_variant | MODIFIER | HG00741.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0311a0001c0003t0003g0046 | 2 | 378 | 0.0053 | 10 | c.879 others(27): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 320743 | A | ATTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01884.hp1 HG02109.hp2 others(4): Show |
a0001a0009 | a0001c0003a0009c0020 | a0001c0003t0003a0001c0003t0004a0001c0003t0027others(3): Show | a0001c0003t0003g0049a0001c0003t0003g0183a0001c0003t0004g0261others(4): Show | 7 | 378 | 0.0185 | 10 | c.879 others(27): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 323776 | C | CCACACAC others(3): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0003 | a0001c0003t0036 | a0001c0003t0036g0276 | 1 | 378 | 0.0027 | 10 | c.879 others(27): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 326394 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0057 | 1 | 378 | 0.0027 | 10 | c.879 others(29): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
AXIN2_chr17_65523563_65566648 | 65538667 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02071.hp1 NA18973.hp1 others(3): Show |
a0001a0002a0005 | a0001c0003a0001c0005a0002c0012others(1): Show | a0001c0003t0001a0001c0005t0001a0002c0012t0001others(1): Show | a0001c0003t0001g0047a0001c0005t0001g0039a0002c0012t0001g0153others(1): Show | 6 | 402 | 0.0149 | 10 | c.106 others(27): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 4/10 | chr17 | TogoVar | ||||||
AXIN2_chr17_65523563_65566648 | 65561704 | C | CCCCGCCC others(3): Show |
upstream_gene_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0158 | 1 | 402 | 0.0025 | 10 | c.-37 others(19): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 57 | chr17 | TogoVar | ||||||
AXIN2_chr17_65523563_65566648 | 65564088 | T | TCACACAC others(3): Show |
upstream_gene_variant | MODIFIER | NA18954.hp1 NA18969.hp2 NA19085.hp2 |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0021a0002c0001t0002 | a0001c0004t0021g0303a0002c0001t0002g0150a0002c0001t0002g0154 | 3 | 402 | 0.0075 | 10 | c.-27 others(21): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 2441 | chr17 | TogoVar | ||||||
AXL_chr19_41214223_41266766 | 41230147 | G | GTCTGTTT others(3): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0107 | 1 | 314 | 0.0032 | 10 | c.587 others(25): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AXL_chr19_41214223_41266766 | 41256080 | G | GGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01346.hp2 HG01981.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0001t0020a0001c0001t0048others(3): Show | a0001c0001t0014g0064a0001c0001t0014g0100a0001c0001t0020g0195others(9): Show | 12 | 314 | 0.0382 | 10 | c.203 others(27): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AXL_chr19_41214223_41266766 | 41260298 | C | CTTTTTTT others(3): Show |
3_prime_UTR_variant | MODIFIER | HG01081.hp1 HG01243.hp1 HG01243.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0030 | a0001c0001t0019g0029a0001c0001t0019g0108a0001c0001t0019g0109others(5): Show | 8 | 314 | 0.0255 | 10 | c.*41 others(19): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 20/20 | 426 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AZGP1_chr7_99961730_99981031 | 99968962 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02027.hp2 HG02071.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0124others(2): Show | 16 | 432 | 0.0370 | 10 | c.338 others(25): Show |
AZGP1 | ENSG00000160862.13 | transcript | ENST00000292401.9 | protein_coding | 2/3 | chr7 | TogoVar | ||||||
AZGP1_chr7_99961730_99981031 | 99977146 | T | TGGCCAAC others(3): Show |
upstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0081 | 1 | 432 | 0.0023 | 10 | c.-11 others(21): Show |
AZGP1 | ENSG00000160862.13 | transcript | ENST00000292401.9 | protein_coding | 1116 | chr7 | TogoVar | ||||||
AZI2_chr3_28316047_28353824 | 28352126 | G | GCACACAC others(3): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0040 | 2 | 360 | 0.0056 | 10 | c.-35 others(21): Show |
AZI2 | ENSG00000163512.14 | transcript | ENST00000479665.6 | protein_coding | 3303 | chr3 | TogoVar | ||||||
AZIN2_chr1_33076153_33128492 | 33108342 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02647.hp2 HG02723.hp2 others(2): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0007a0001c0001t0009a0005c0005t0009 | a0001c0001t0007g0052a0001c0001t0009g0222a0005c0005t0009g0021others(1): Show | 5 | 322 | 0.0155 | 10 | c.103 others(29): Show |
AZIN2 | ENSG00000142920.18 | transcript | ENST00000294517.11 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AZIN2_chr1_33076153_33128492 | 33125733 | C | CCCTTTCC others(3): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 322 | 0.0031 | 10 | c.*55 others(21): Show |
AZIN2 | ENSG00000142920.18 | transcript | ENST00000294517.11 | protein_coding | 2242 | chr1 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 823445 | A | AAAAAAAA others(3): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 HG01928.hp1 HG01934.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 7 | 391 | 0.0179 | 10 | c.-44 others(21): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 4391 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 823446 | A | AAAAAAAA others(3): Show |
upstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 391 | 0.0026 | 10 | c.-44 others(21): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 4390 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 823450 | A | AAAAAACA others(3): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG00741.hp1 others(18): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(2): Show | a0001c0002t0001g0016a0001c0003t0001g0002a0001c0003t0001g0024others(7): Show | 21 | 391 | 0.0537 | 10 | c.-43 others(21): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 4386 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 829936 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02280.hp1 HG02280.hp2 others(8): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0001 | a0001c0003t0001g0024a0001c0003t0001g0045a0001c0003t0001g0047others(4): Show | 11 | 391 | 0.0281 | 10 | c.360 others(25): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
B3GALNT2_chr1_235442190_235509452 | 235474950 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 344 | 0.0029 | 10 | c.652 others(27): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235474987 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 344 | 0.0029 | 10 | c.652 others(27): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235474987 | A | ATATATTT others(3): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 344 | 0.0029 | 10 | c.652 others(27): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235474987 | A | ATATTTTT others(3): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 344 | 0.0029 | 10 | c.652 others(27): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235498843 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01496.hp1 others(11): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0009a0001c0001t0019others(1): Show | a0001c0001t0002g0013a0001c0001t0002g0066a0001c0001t0002g0067others(11): Show | 14 | 344 | 0.0407 | 10 | c.113 others(27): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235509010 | C | CATATATA others(3): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG01952.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0012 | a0001c0001t0002g0014a0001c0001t0002g0040a0001c0001t0002g0054others(12): Show | 15 | 344 | 0.0436 | 10 | c.-47 others(21): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 4559 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235509023 | A | ATATATAT others(3): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00621.hp2 others(50): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(7): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0013others(49): Show | 53 | 344 | 0.1541 | 10 | c.-47 others(21): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 4572 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235509023 | A | ATATATAT others(3): Show |
upstream_gene_variant | MODIFIER | HG02148.hp1 HG02155.hp2 HG02559.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0012others(3): Show | a0001c0001t0002g0029a0001c0001t0002g0032a0001c0001t0002g0041others(14): Show | 17 | 344 | 0.0494 | 10 | c.-47 others(21): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 4572 | chr1 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167303682 | C | CACACAGA others(3): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0055 | 1 | 118 | 0.0085 | 10 | c.-51 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167387012 | C | CATCATAT others(3): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03225.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0015 | a0001c0001t0002g0018a0001c0001t0010g0092a0001c0001t0015g0079 | 3 | 118 | 0.0254 | 10 | c.-51 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167400166 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02132.hp1 HG02647.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0062a0001c0001t0002g0070a0001c0001t0003g0038others(8): Show | 11 | 118 | 0.0932 | 10 | c.-51 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167454210 | T | TGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0030 | a0001c0001t0002g0018a0001c0001t0030g0072 | 2 | 118 | 0.0170 | 10 | c.-51 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167512570 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 118 | 0.0085 | 10 | c.-41 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167521982 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | NA18968.hp2 NA19007.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0020 | a0001c0001t0001g0076a0001c0001t0004g0014a0001c0001t0020g0063 | 3 | 118 | 0.0254 | 10 | c.-41 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167521984 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0027a0001c0001t0014g0026 | 2 | 118 | 0.0170 | 10 | c.-41 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167548685 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0038 | a0001c0001t0001g0003a0001c0001t0038g0025 | 2 | 118 | 0.0170 | 10 | c.-41 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167625942 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | HG01346.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0036 | a0001c0001t0032g0107a0001c0001t0036g0033 | 2 | 118 | 0.0170 | 10 | c.-40 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167625985 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0064 | 1 | 118 | 0.0085 | 10 | c.-40 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167776040 | G | GCACACAC others(3): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03139.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0041a0001c0003t0044 | a0001c0001t0041g0109a0001c0003t0044g0115 | 2 | 118 | 0.0170 | 10 | c.-35 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167803081 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01081.hp1 HG01106.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0011a0001c0001t0002g0029a0001c0001t0002g0052others(17): Show | 20 | 118 | 0.1695 | 10 | c.-35 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167825283 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 118 | 0.0085 | 10 | c.-23 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |