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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AACS_chr12_125060435_125148316 | 125107034 | CAG | C | intron_variant | MODIFIER | HG02257.hp2 HG02647.hp1 HG02886.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0002c0002t0001a0002c0005t0001 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0074others(5): Show | 8 | 364 | 0.0220 | -2 | c.768 others(15): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125108863 | CTT | C | intron_variant | MODIFIER | HG02698.hp1 HG02723.hp1 HG02809.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0002g0176a0002c0002t0001g0004a0002c0002t0001g0264others(2): Show | 6 | 364 | 0.0165 | -2 | c.915 others(19): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125123278 | CAT | C | intron_variant | MODIFIER | NA18953.hp1 NA18957.hp1 NA19078.hp2 |
a0001 | a0001c0001a0001c0017 | a0001c0001t0002a0001c0017t0002 | a0001c0001t0002g0183a0001c0001t0002g0252a0001c0017t0002g0204 | 3 | 364 | 0.0082 | -2 | c.112 others(21): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 10/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125141500 | CAT | C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00597.hp2 others(39): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0004others(8): Show | a0001c0001t0001g0028a0001c0003t0001g0168a0001c0003t0001g0210others(39): Show | 42 | 364 | 0.1154 | -2 | c.188 others(19): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 17/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125145855 | CCT | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(152): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(18): Show | a0001c0001t0001g0010a0001c0001t0001g0028a0001c0001t0001g0039others(151): Show | 155 | 364 | 0.4258 | -2 | c.*36 others(13): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2540 | chr12 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151732225 | TTA | T | upstream_gene_variant | MODIFIER | HG00621.hp1 HG02056.hp2 HG02074.hp1 others(4): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0007c0009t0001 | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0105others(2): Show | 7 | 428 | 0.0164 | -2 | c.-18 others(13): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 1701 | chr3 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151732394 | CAT | C | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG00642.hp2 others(73): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0015a0001c0001t0001g0131a0001c0001t0001g0132others(52): Show | 76 | 428 | 0.1776 | -2 | c.-16 others(13): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 1532 | chr3 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151736302 | CTT | C | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp1 HG02280.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0014a0001c0001t0047others(2): Show | a0001c0001t0004g0124a0001c0001t0014g0125a0001c0001t0014g0128others(4): Show | 7 | 428 | 0.0164 | -2 | c.138 others(19): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AADACL2_chr3_151728927_151766339 | 151747618 | TTG | T | intron_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(2): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(11): Show | 19 | 428 | 0.0444 | -2 | c.603 others(19): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AADACL2_chr3_151728927_151766339 | 151748364 | GAA | G | intron_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0.0491 | -2 | c.603 others(19): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AADACL2_chr3_151728927_151766339 | 151758355 | ATG | A | 3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0.0491 | -2 | c.*76 others(11): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | 765 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
AADACL2_chr3_151728927_151766339 | 151761144 | GAT | G | 3_prime_UTR_variant | MODIFIER | HG02135.hp1 HG02698.hp1 HG03491.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0039a0001c0001t0055a0001c0001t0056others(1): Show | a0001c0001t0039g0045a0001c0001t0055g0006a0001c0001t0056g0006others(1): Show | 5 | 428 | 0.0117 | -2 | c.*35 others(13): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | 3563 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
AADACL2_chr3_151728927_151766339 | 151761173 | TTA | T | 3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0.0491 | -2 | c.*35 others(13): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | 3587 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
AADACL2_chr3_151728927_151766339 | 151761204 | GAT | G | 3_prime_UTR_variant | MODIFIER | HG00621.hp2 HG01496.hp2 HG01975.hp2 others(13): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0013a0001c0001t0019a0001c0001t0033others(3): Show | a0001c0001t0013g0002a0001c0001t0013g0010a0001c0001t0013g0066others(11): Show | 16 | 428 | 0.0374 | -2 | c.*36 others(13): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | 3647 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
AADACL2_chr3_151728927_151766339 | 151765288 | TAA | T | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0.0491 | -2 | c.*76 others(13): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 3950 | chr3 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151765335 | CAA | C | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01243.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0017a0001c0001t0063others(4): Show | a0001c0001t0006g0016a0001c0001t0006g0050a0001c0001t0006g0065others(12): Show | 20 | 428 | 0.0467 | -2 | c.*77 others(13): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 3997 | chr3 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12722326 | GAA | G | intron_variant | MODIFIER | HG02293.hp1 HG03017.hp1 HG03834.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0002a0002c0004t0002 | a0001c0001t0001g0029a0001c0001t0001g0095a0001c0002t0002g0051others(1): Show | 6 | 432 | 0.0139 | -2 | c.449 others(19): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AADACL3_chr1_12711110_12733760 | 12724969 | ATT | A | intron_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG01109.hp2 others(37): Show |
a0002a0004a0005others(2): Show | a0002c0018a0002c0019a0004c0007others(7): Show | a0002c0018t0047a0002c0019t0017a0004c0007t0012others(16): Show | a0002c0018t0047g0086a0002c0019t0017g0007a0004c0007t0012g0126others(22): Show | 40 | 432 | 0.0926 | -2 | c.450 others(17): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AADACL3_chr1_12711110_12733760 | 12730678 | ATT | A | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02647.hp2 HG02976.hp2 others(5): Show |
a0002a0005a0007others(1): Show | a0002c0003a0005c0006a0007c0011others(2): Show | a0002c0003t0005a0005c0006t0038a0007c0011t0016others(3): Show | a0002c0003t0005g0035a0005c0006t0038g0067a0007c0011t0016g0025others(3): Show | 8 | 432 | 0.0185 | -2 | c.*46 others(13): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1919 | chr1 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12643448 | CTT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(230): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(195): Show | 233 | 310 | 0.7516 | -2 | c.-10 others(13): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 636 | chr1 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12658002 | TTC | T | intron_variant | MODIFIER | HG00642.hp1 HG02055.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0140a0001c0001t0001g0191a0001c0001t0002g0041others(1): Show | 4 | 310 | 0.0129 | -2 | c.386 others(19): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AADACL4_chr1_12639085_12672076 | 12658085 | CTT | C | intron_variant | MODIFIER | HG00642.hp1 HG02055.hp2 HG02615.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0068a0001c0001t0001g0140a0001c0001t0001g0191others(2): Show | 5 | 310 | 0.0161 | -2 | c.386 others(19): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AADAC_chr3_151809116_151833488 | 151813732 | CAT | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(210): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(71): Show | 213 | 440 | 0.4841 | -2 | c.-43 others(11): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 383 | chr3 | TogoVar | ||||||
AADAC_chr3_151809116_151833488 | 151818240 | CAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(215): Show |
a0001a0003a0005 | a0001c0001a0001c0004a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(71): Show | 218 | 440 | 0.4955 | -2 | c.361 others(17): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AADAC_chr3_151809116_151833488 | 151819794 | GAA | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | -2 | c.362 others(17): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AADAC_chr3_151809116_151833488 | 151820751 | CAG | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | -2 | c.431 others(17): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AADAC_chr3_151809116_151833488 | 151827448 | TAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(296): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(101): Show | 299 | 440 | 0.6796 | -2 | c.604 others(17): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 4/4 | chr3 | TogoVar | ||||||
AADAC_chr3_151809116_151833488 | 151831382 | TAC | T | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01106.hp2 HG01496.hp2 others(41): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0006a0001c0001t0002g0015a0001c0001t0002g0028others(13): Show | 44 | 440 | 0.1000 | -2 | c.*32 others(13): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2895 | chr3 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170056417 | CAA | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG01258.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0032a0001c0001t0001g0049others(6): Show | 11 | 378 | 0.0291 | -2 | c.*45 others(13): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3804 | chr4 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170056435 | AAT | A | downstream_gene_variant | MODIFIER | HG02559.hp1 HG02723.hp1 HG02922.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0037a0001c0001t0001g0071others(3): Show | 10 | 378 | 0.0265 | -2 | c.*44 others(13): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3786 | chr4 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170056457 | TAC | T | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00609.hp2 others(63): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0017others(33): Show | 66 | 378 | 0.1746 | -2 | c.*44 others(13): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3764 | chr4 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170060046 | AAT | A | downstream_gene_variant | MODIFIER | HG01358.hp2 HG02258.hp1 HG02615.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043a0001c0001t0001g0188a0001c0001t0001g0190 | 4 | 378 | 0.0106 | -2 | c.*88 others(11): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 175 | chr4 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170068138 | CAA | C | intron_variant | MODIFIER | HG02258.hp2 HG02922.hp1 HG03486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0072a0001c0001t0001g0075others(2): Show | 6 | 378 | 0.0159 | -2 | c.900 others(17): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 8/12 | chr4 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170072261 | GTA | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01070.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0045a0001c0001t0001g0194others(4): Show | 12 | 378 | 0.0318 | -2 | c.654 others(17): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 5/12 | chr4 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170072299 | GTA | G | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0078a0001c0001t0001g0111others(2): Show | 7 | 378 | 0.0185 | -2 | c.654 others(17): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 5/12 | chr4 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170074505 | CAT | C | intron_variant | MODIFIER | HG01891.hp2 HG02818.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0180a0001c0001t0001g0181a0001c0001t0001g0182others(2): Show | 5 | 378 | 0.0132 | -2 | c.445 others(19): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 4/12 | chr4 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170086401 | GGA | G | intron_variant | MODIFIER | HG01109.hp1 HG01358.hp2 HG01884.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0043a0001c0001t0001g0044others(7): Show | 17 | 378 | 0.0450 | -2 | c.369 others(17): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3/12 | chr4 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67196162 | CAA | C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp2 others(73): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0359a0001c0001t0002g0026a0001c0001t0002g0027others(73): Show | 76 | 380 | 0.2000 | -2 | c.*66 others(13): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 4504 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67216442 | GAA | G | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG00673.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0017others(2): Show | a0001c0001t0001g0315a0001c0001t0006g0236a0001c0001t0017g0258others(14): Show | 17 | 380 | 0.0447 | -2 | c.536 others(19): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67222242 | GCA | G | intron_variant | MODIFIER | HG00639.hp2 HG02055.hp1 HG02922.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0047a0001c0001t0002g0058a0001c0001t0002g0064others(2): Show | 5 | 380 | 0.0132 | -2 | c.535 others(19): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67241040 | TAC | T | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG00673.hp2 others(42): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0003others(1): Show | a0001c0001t0001g0344a0001c0001t0001g0345a0001c0001t0004g0129others(42): Show | 45 | 380 | 0.1184 | -2 | c.74- others(17): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67253260 | CGG | C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(87): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0011a0001c0001t0001g0277a0001c0001t0001g0278others(85): Show | 90 | 380 | 0.2368 | -2 | c.73+ others(17): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67258512 | CAA | C | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02896.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026a0001c0001t0002g0027a0001c0001t0002g0028others(1): Show | 4 | 380 | 0.0105 | -2 | c.-38 others(13): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 3852 | chr15 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69461595 | ATT | A | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02451.hp2 HG02559.hp2 others(7): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0002c0005others(1): Show | a0001c0001t0073a0001c0006t0028a0001c0006t0041others(4): Show | a0001c0001t0073g0052a0001c0006t0028g0126a0001c0006t0028g0134others(7): Show | 10 | 298 | 0.0336 | -2 | c.*14 others(15): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 14272 | chr2 | TogoVar | |||||
AAK1_chr2_69452997_69648739 | 69462116 | AAT | A | 3_prime_UTR_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02622.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0073a0001c0001t0099a0002c0005t0018others(1): Show | a0001c0001t0073g0052a0001c0001t0099g0161a0002c0005t0018g0064others(3): Show | 6 | 298 | 0.0201 | -2 | c.*13 others(15): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 13751 | chr2 | TogoVar | |||||
AAK1_chr2_69452997_69648739 | 69477161 | GAT | G | intron_variant | MODIFIER | HG00597.hp1 NA19006.hp2 NA19009.hp1 |
a0001a0007 | a0001c0001a0007c0018 | a0001c0001t0002a0007c0018t0002 | a0001c0001t0002g0150a0001c0001t0002g0157a0007c0018t0002g0165 | 3 | 298 | 0.0101 | -2 | c.268 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 20/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69488149 | CGT | C | intron_variant | MODIFIER | HG02074.hp2 HG02451.hp1 HG02602.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0105a0001c0001t0117a0001c0003t0012others(13): Show | a0001c0001t0105g0108a0001c0001t0117g0189a0001c0003t0012g0088others(19): Show | 22 | 298 | 0.0738 | -2 | c.236 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69488346 | TAG | T | intron_variant | MODIFIER | NA18961.hp2 NA18966.hp2 NA18973.hp2 |
a0001 | a0001c0003 | a0001c0003t0012a0001c0003t0030a0001c0003t0080 | a0001c0003t0012g0096a0001c0003t0030g0168a0001c0003t0080g0094 | 3 | 298 | 0.0101 | -2 | c.236 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69500664 | AAT | A | intron_variant | MODIFIER | HG01928.hp1 HG02083.hp1 HG02132.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0020others(6): Show | a0001c0001t0004g0216a0001c0001t0004g0259a0001c0001t0004g0261others(14): Show | 17 | 298 | 0.0571 | -2 | c.227 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69504351 | CTG | C | intron_variant | MODIFIER | HG02083.hp1 NA18954.hp2 NA19005.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0264a0001c0001t0004g0265a0001c0001t0004g0266others(1): Show | 4 | 298 | 0.0134 | -2 | c.226 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar |