view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 | 125108863 | CTT | C | intron_variant | MODIFIER | HG02698.hp1 HG02723.hp1 HG02809.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0002g0173 a0002c0002t0001g0006 a0002c0002t0001g0262 others(2): Show |
6 | 194 | 0.0309 | -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 | a0001c0001t0002g0181 a0001c0001t0002g0250 a0001c0017t0002g0206 |
3 | 362 | 0.0083 | -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 | a0001c0001t0001g0028 a0001c0003t0001g0178 a0001c0003t0001g0212 others(38): Show |
42 | 362 | 0.1160 | -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 |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(18): Show | a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0038 others(149): Show |
155 | 362 | 0.4282 | -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 |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0002a0006c0009t0002 | a0001c0001t0002g0001 a0001c0001t0002g0018 a0001c0001t0002g0085 others(2): Show |
7 | 426 | 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 |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0031 a0001c0001t0002g0015 a0001c0001t0002g0130 others(35): Show |
76 | 236 | 0.3220 | -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 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0123 a0001c0001t0004g0124 a0001c0001t0004g0127 others(4): Show |
7 | 116 | 0.0603 | -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 | a0001c0001t0005a0001c0001t0022a0002c0002t0005 | a0001c0001t0005g0016 a0001c0001t0005g0019 a0001c0001t0005g0049 others(11): Show |
19 | 316 | 0.0601 | -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 | a0001c0001t0005a0001c0001t0021a0001c0001t0022others(1): Show | a0001c0001t0005g0016 a0001c0001t0005g0019 a0001c0001t0005g0049 others(13): Show |
21 | 426 | 0.0493 | -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 | a0001c0001t0005a0001c0001t0021a0001c0001t0022others(1): Show | a0001c0001t0005g0016 a0001c0001t0005g0019 a0001c0001t0005g0049 others(13): Show |
21 | 426 | 0.0493 | -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 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0004 a0001c0001t0001g0038 a0001c0001t0004g0006 |
5 | 425 | 0.0118 | -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 | a0001c0001t0005a0001c0001t0021a0001c0001t0022others(1): Show | a0001c0001t0005g0016 a0001c0001t0005g0019 a0001c0001t0005g0049 others(13): Show |
21 | 408 | 0.0515 | -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 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0008 a0001c0001t0003g0002 a0001c0001t0003g0010 others(11): Show |
16 | 84 | 0.1905 | -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 | a0001c0001t0005a0001c0001t0021a0001c0001t0022others(1): Show | a0001c0001t0005g0016 a0001c0001t0005g0019 a0001c0001t0005g0049 others(13): Show |
21 | 425 | 0.0494 | -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 | a0001c0001t0002a0001c0001t0005a0001c0001t0021others(2): Show | a0001c0001t0002g0029 a0001c0001t0005g0016 a0001c0001t0005g0049 others(12): Show |
20 | 196 | 0.1020 | -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 | a0001c0001t0001g0029 a0001c0001t0001g0095 a0001c0002t0002g0051 others(1): Show |
6 | 303 | 0.0198 | -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 | a0002c0018t0045a0002c0019t0017a0004c0007t0013others(15): Show | a0002c0018t0045g0086 a0002c0019t0017g0007 a0004c0007t0013g0125 others(22): Show |
40 | 430 | 0.0930 | -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 | a0002c0003t0005a0005c0006t0037a0007c0011t0016others(3): Show | a0002c0003t0005g0035 a0005c0006t0037g0067 a0007c0011t0016g0025 others(3): Show |
8 | 308 | 0.0260 | -2 | c.*46 others(13): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1919 | chr1 | TogoVar | |||||||
AADACL4_chr1_12639085_12672076 | 12658002 | TTC | T | intron_variant | MODIFIER | HG00642.hp1 HG02055.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0139 a0001c0001t0001g0190 a0001c0001t0002g0051 others(1): Show |
4 | 308 | 0.0130 | -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 | a0001c0001t0001g0068 a0001c0001t0001g0139 a0001c0001t0001g0190 others(2): Show |
5 | 308 | 0.0162 | -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(209): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 others(70): Show |
212 | 438 | 0.4840 | -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(214): Show |
a0001a0003a0004 | a0001c0001a0001c0004a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 others(70): Show |
217 | 359 | 0.6045 | -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(215): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 others(71): Show |
218 | 438 | 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(215): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 others(71): Show |
218 | 438 | 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(295): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0014 others(100): Show |
298 | 438 | 0.6804 | -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 | a0001c0001t0002g0006 a0001c0001t0002g0015 a0001c0001t0002g0027 others(13): Show |
44 | 63 | 0.6984 | -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 | a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0037 others(6): Show |
11 | 344 | 0.0320 | -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 | a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0001g0070 others(3): Show |
10 | 170 | 0.0588 | -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 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0016 others(33): Show |
66 | 336 | 0.1964 | -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 | a0001c0001t0001g0042 a0001c0001t0001g0183 a0001c0001t0001g0185 |
4 | 376 | 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 | a0001c0001t0001g0030 a0001c0001t0001g0071 a0001c0001t0001g0074 others(2): Show |
6 | 273 | 0.0220 | -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 | a0001c0001t0001g0013 a0001c0001t0001g0044 a0001c0001t0001g0189 others(4): Show |
12 | 376 | 0.0319 | -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 | a0001c0001t0001g0019 a0001c0001t0001g0077 a0001c0001t0001g0110 others(2): Show |
7 | 266 | 0.0263 | -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 | a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 others(2): Show |
5 | 376 | 0.0133 | -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 | a0001c0001t0001g0006 a0001c0001t0001g0042 a0001c0001t0001g0043 others(7): Show |
17 | 376 | 0.0452 | -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(72): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0314 a0001c0001t0002g0007 a0001c0001t0002g0015 others(66): Show |
75 | 88 | 0.8523 | -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 | a0001c0001t0001g0277 a0001c0001t0006g0211 a0001c0001t0017g0226 others(12): Show |
17 | 70 | 0.2429 | -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 | a0001c0001t0002g0064 a0001c0001t0002g0072 a0001c0001t0002g0078 others(2): Show |
5 | 248 | 0.0202 | -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 | a0001c0001t0001g0036 a0001c0001t0004g0011 a0001c0001t0004g0029 others(31): Show |
45 | 51 | 0.8824 | -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 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0013 a0001c0001t0001g0240 a0001c0001t0001g0241 others(77): Show |
90 | 115 | 0.7826 | -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 | a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 others(1): Show |
4 | 378 | 0.0106 | -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 | a0001c0001t0069a0001c0006t0028a0001c0006t0037others(4): Show | a0001c0001t0069g0055 a0001c0006t0028g0123 a0001c0006t0028g0132 others(7): Show |
10 | 249 | 0.0402 | -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 | a0001c0001t0069a0001c0001t0094a0002c0005t0018others(1): Show | a0001c0001t0069g0055 a0001c0001t0094g0160 a0002c0005t0018g0077 others(3): Show |
6 | 296 | 0.0203 | -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 |
a0001a0006 | a0001c0001a0006c0018 | a0001c0001t0001a0006c0018t0001 | a0001c0001t0001g0150 a0001c0001t0001g0157 a0006c0018t0001g0165 |
3 | 296 | 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 | a0001c0001t0100a0001c0001t0112a0001c0003t0008others(12): Show | a0001c0001t0100g0108 a0001c0001t0112g0189 a0001c0003t0008g0087 others(19): Show |
22 | 116 | 0.1897 | -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 | a0001c0003t0008a0001c0003t0030 | a0001c0003t0008g0095 a0001c0003t0008g0097 a0001c0003t0030g0167 |
3 | 296 | 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 | a0001c0001t0005a0001c0001t0007a0001c0001t0020others(6): Show | a0001c0001t0005g0213 a0001c0001t0005g0259 a0001c0001t0005g0261 others(14): Show |
17 | 193 | 0.0881 | -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 | a0001c0001t0005 | a0001c0001t0005g0264 a0001c0001t0005g0265 a0001c0001t0005g0266 others(1): Show |
4 | 296 | 0.0135 | -2 | c.226 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69504397 | CAA | C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00597.hp2 others(51): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(23): Show | a0001c0001t0005g0197 a0001c0001t0005g0213 a0001c0001t0005g0218 others(51): Show |
54 | 114 | 0.4737 | -2 | c.226 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69505133 | ACC | A | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01167.hp1 others(58): Show |
a0001a0004 | a0001c0001a0001c0007a0001c0009others(2): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(29): Show | a0001c0001t0005g0197 a0001c0001t0005g0213 a0001c0001t0005g0218 others(58): Show |
61 | 296 | 0.2061 | -2 | c.226 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar |