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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM9_chr8_38991973_39110261 | 39045384 | A | ATGTGCGT others(23): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03139.hp2 HG03516.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0131a0002c0002t0002g0192a0002c0002t0002g0193 | 3 | 332 | 0.0090 | 30 | c.130 others(49): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | chr8 | TogoVar | ||||||
ADAMDEC1_chr8_24379285_24411013 | 24400632 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0055 | 2 | 404 | 0.0050 | 30 | c.114 others(47): Show |
ADAMDEC1 | ENSG00000134028.14 | transcript | ENST00000256412.8 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAMTS14_chr10_70667506_70767441 | 70688843 | C | CGGAGGGA others(23): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0003 | a0003c0028 | a0003c0028t0007 | a0003c0028t0007g0004 | 1 | 354 | 0.0028 | 30 | c.523 others(49): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADAMTS14_chr10_70667506_70767441 | 70688844 | G | GTGGGGCG others(23): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00738.hp1 others(15): Show |
a0001a0003a0004others(3): Show | a0001c0002a0001c0004a0001c0007others(11): Show | a0001c0002t0018a0001c0002t0041a0001c0004t0009others(14): Show | a0001c0002t0018g0090a0001c0002t0041g0075a0001c0004t0009g0088others(15): Show | 18 | 354 | 0.0509 | 30 | c.523 others(49): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | chr10 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70759132 | T | TTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01168.hp1 HG01258.hp2 others(8): Show |
a0001a0004a0020 | a0001c0002a0001c0007a0001c0026others(4): Show | a0001c0002t0002a0001c0002t0020a0001c0007t0002others(6): Show | a0001c0002t0002g0130a0001c0002t0002g0321a0001c0002t0020g0068others(8): Show | 11 | 354 | 0.0311 | 30 | c.317 others(47): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADAMTS15_chr11_130443645_130481645 | 130470133 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0280 | 1 | 398 | 0.0025 | 30 | c.172 others(47): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ADAMTS17_chr15_99966437_100346975 | 100119043 | T | TACACACA others(23): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01167.hp1 HG01358.hp1 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0005a0001c0007a0002c0004others(6): Show | a0001c0005t0009a0001c0005t0011a0001c0007t0018others(7): Show | a0001c0005t0009g0030a0001c0005t0011g0179a0001c0007t0018g0045others(8): Show | 11 | 228 | 0.0483 | 30 | c.172 others(49): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 12/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100140488 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02698.hp1 |
a0001a0006 | a0001c0017a0006c0016 | a0001c0017t0037a0006c0016t0059 | a0001c0017t0037g0047a0006c0016t0059g0096 | 2 | 228 | 0.0088 | 30 | c.147 others(49): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 10/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100255617 | A | AACACACA others(23): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02572.hp2 |
a0004a0005 | a0004c0003a0005c0045 | a0004c0003t0003a0005c0045t0013 | a0004c0003t0003g0012a0005c0045t0013g0005 | 2 | 228 | 0.0088 | 30 | c.103 others(49): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 6/21 | chr15 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77314753 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00621.hp2 others(23): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0024a0003c0002others(11): Show | a0001c0001t0002a0001c0024t0021a0003c0002t0006others(15): Show | a0001c0001t0002g0046a0001c0001t0002g0141a0001c0024t0021g0304others(23): Show | 26 | 326 | 0.0798 | 30 | c.253 others(49): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77314753 | C | CTTATATA others(23): Show |
intron_variant | MODIFIER | HG03453.hp1 HG03831.hp2 |
a0002a0004 | a0002c0057a0004c0003 | a0002c0057t0033a0004c0003t0005 | a0002c0057t0033g0158a0004c0003t0005g0007 | 2 | 326 | 0.0061 | 30 | c.253 others(49): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/22 | chr16 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129549874 | A | ATGTATCT others(23): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02165.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158a0001c0001t0001g0200 | 2 | 226 | 0.0089 | 30 | c.132 others(49): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129608116 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0045 | 2 | 226 | 0.0089 | 30 | c.147 others(51): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129608116 | G | GTGTGTAT others(23): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 226 | 0.0044 | 30 | c.147 others(51): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129645885 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0224 | 1 | 226 | 0.0044 | 30 | c.187 others(49): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129658343 | A | AAGAAAGA others(23): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 226 | 0.0044 | 30 | c.230 others(47): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129658347 | A | AAGAGAGA others(23): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0221 | 1 | 226 | 0.0044 | 30 | c.230 others(47): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129658351 | A | AAGAAAGA others(23): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0064 | 1 | 226 | 0.0044 | 30 | c.230 others(47): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS20_chr12_43348866_43557203 | 43420800 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 306 | 0.0033 | 30 | c.428 others(49): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 306 | 0.0033 | 30 | c.161 others(49): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA18945.hp1 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228a0001c0001t0001g0229 | 2 | 306 | 0.0065 | 30 | c.161 others(49): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02559.hp1 NA18979.hp1 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0042a0001c0001t0001g0087 | 3 | 306 | 0.0098 | 30 | c.161 others(49): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72530081 | T | TATAATAT others(23): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0022 | 1 | 182 | 0.0055 | 30 | c.504 others(49): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72550002 | A | AAGGAGAA others(23): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 182 | 0.0055 | 30 | c.98- others(45): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72550008 | A | AAGGAGAA others(23): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0160 | 1 | 182 | 0.0055 | 30 | c.98- others(45): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72550011 | A | AAGGAGAA others(23): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091a0001c0001t0001g0092 | 2 | 182 | 0.0110 | 30 | c.98- others(45): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72550014 | A | AAGGAGAA others(23): Show |
intron_variant | MODIFIER | HG02572.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0040a0001c0003t0001g0161 | 2 | 182 | 0.0110 | 30 | c.98- others(45): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | ||||||
ADAMTS4_chr1_161179302_161204054 | 161188883 | A | AATATATA others(23): Show |
3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG01074.hp1 others(20): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0022a0001c0001t0023a0001c0001t0042others(15): Show | a0001c0001t0022g0026a0001c0001t0022g0139a0001c0001t0023g0028others(16): Show | 23 | 374 | 0.0615 | 30 | c.*22 others(41): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 9/9 | 2254 | chr1 | TogoVar | |||||
ADAMTS4_chr1_161179302_161204054 | 161188883 | A | AATATATA others(23): Show |
3_prime_UTR_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0003 | a0002c0003t0179 | a0002c0003t0179g0177 | 1 | 374 | 0.0027 | 30 | c.*22 others(41): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 9/9 | 2254 | chr1 | TogoVar | |||||
ADAMTS4_chr1_161179302_161204054 | 161188897 | T | TATATATA others(23): Show |
3_prime_UTR_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0163 | a0001c0001t0163g0123 | 1 | 374 | 0.0027 | 30 | c.*22 others(41): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 9/9 | 2240 | chr1 | TogoVar | |||||
ADAMTS9_chr3_64510654_64693000 | 64673010 | T | TGTAGCCT others(23): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01978.hp2 HG02055.hp1 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(7): Show | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(20): Show | 23 | 286 | 0.0804 | 30 | c.679 others(47): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 3/39 | chr3 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18503421 | G | GTGTATAT others(23): Show |
intron_variant | MODIFIER | HG03195.hp2 NA18994.hp1 |
a0002a0025 | a0002c0001a0025c0033 | a0002c0001t0001a0025c0033t0024 | a0002c0001t0001g0210a0025c0033t0024g0165 | 2 | 218 | 0.0092 | 30 | c.64- others(45): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18503421 | G | GTGTGTAT others(23): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0211 | 1 | 218 | 0.0046 | 30 | c.64- others(45): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18688687 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0011 | 1 | 218 | 0.0046 | 30 | c.157 others(49): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0006 | a0006c0073 | a0006c0073t0008 | a0006c0073t0008g0071 | 1 | 218 | 0.0046 | 30 | c.157 others(49): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | AAAAAATA others(23): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0057 | a0001c0057t0002 | a0001c0057t0002g0001 | 1 | 218 | 0.0046 | 30 | c.157 others(49): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | AAAATATA others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 NA19058.hp2 |
a0001a0003 | a0001c0003a0003c0011 | a0001c0003t0029a0003c0011t0007 | a0001c0003t0029g0025a0003c0011t0007g0183 | 2 | 218 | 0.0092 | 30 | c.157 others(49): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18688704 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0045 | 1 | 218 | 0.0046 | 30 | c.157 others(49): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18866116 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0006 | a0006c0014 | a0006c0014t0003 | a0006c0014t0003g0027 | 1 | 218 | 0.0046 | 30 | c.425 others(51): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83674766 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0015 | a0015c0018 | a0015c0018t0001 | a0015c0018t0001g0102 | 1 | 274 | 0.0037 | 30 | c.69+ others(47): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83674766 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0006 | a0006c0017 | a0006c0017t0001 | a0006c0017t0001g0096 | 1 | 274 | 0.0037 | 30 | c.69+ others(47): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83674766 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0087 | 1 | 274 | 0.0037 | 30 | c.69+ others(47): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83903922 | A | AGGAAGGA others(23): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 274 | 0.0037 | 30 | c.170 others(49): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 15/29 | chr15 | TogoVar | ||||||
ADAMTSL5_chr19_1500022_1518019 | 1500696 | G | GAAAAAAA others(23): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0086 | 1 | 352 | 0.0028 | 30 | c.*53 others(41): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4325 | chr19 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45074598 | T | TGGCGGCG others(23): Show |
5_prime_UTR_variant | MODIFIER | HG02165.hp1 HG03239.hp1 NA19004.hp1 |
a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0181a0001c0002t0024g0183a0001c0002t0024g0187 | 3 | 350 | 0.0086 | 30 | c.-39 others(39): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 1/11 | 97034 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
ADARB2_chr10_1172313_1742525 | 1514178 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG03669.hp1 NA18982.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0003a0004c0005t0002 | a0001c0001t0003g0098a0004c0005t0002g0039 | 2 | 106 | 0.0189 | 30 | c.101 others(51): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1544956 | T | TATACACA others(23): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0007 | a0001c0007t0066 | a0001c0007t0066g0105 | 1 | 106 | 0.0094 | 30 | c.101 others(51): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADAT1_chr16_75591868_75628281 | 75624114 | C | CATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0003 | a0003c0004 | a0003c0004t0021 | a0003c0004t0021g0318 | 1 | 348 | 0.0029 | 30 | c.-17 others(41): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 834 | chr16 | TogoVar | ||||||
ADAT2_chr6_143417832_143455695 | 143427096 | A | AACACACA others(23): Show |
3_prime_UTR_variant | MODIFIER | HG02165.hp1 NA18945.hp1 NA18954.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0063a0001c0001t0064a0001c0001t0065others(1): Show | a0001c0001t0063g0093a0001c0001t0064g0114a0001c0001t0065g0115others(1): Show | 4 | 322 | 0.0124 | 30 | c.*13 others(41): Show |
ADAT2 | ENSG00000189007.16 | transcript | ENST00000237283.9 | protein_coding | 6/6 | 1366 | chr6 | TogoVar | |||||
ADAT2_chr6_143417832_143455695 | 143455171 | A | ATTTTCTT others(23): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 HG03195.hp1 HG06807.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0100a0001c0001t0102a0002c0002t0020others(2): Show | a0001c0001t0100g0069a0001c0001t0102g0063a0002c0002t0020g0079others(3): Show | 6 | 322 | 0.0186 | 30 | c.-45 others(41): Show |
ADAT2 | ENSG00000189007.16 | transcript | ENST00000237283.9 | protein_coding | 4477 | chr6 | TogoVar |