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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM2_chr8_39738735_39843227 | 39760882 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG03486.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0015t0001 | a0001c0001t0001g0030a0001c0001t0001g0032a0001c0015t0001g0224 | 3 | 329 | 0.0091 | 11 | c.161 others(28): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 15/20 | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39185356 | A | AAAACAAA others(4): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 257 | 0.0039 | 11 | c.916 others(28): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM32_chr8_39102734_39289917 | 39245067 | C | CAGTGGCT others(4): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02965.hp2 HG02976.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0230a0002c0003t0001g0231a0002c0003t0001g0232 | 3 | 257 | 0.0117 | 11 | c.181 others(30): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM7_chr8_24436026_24514565 | 24504063 | T | TAAAATAA others(4): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02809.hp1 NA19240.hp1 |
a0005a0006 | a0005c0006a0006c0014 | a0005c0006t0001a0006c0014t0005 | a0005c0006t0001g0038a0006c0014t0005g0026 | 3 | 360 | 0.0083 | 11 | c.220 others(30): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM8_chr10_133257423_133281868 | 133261187 | T | TGGGCGGT others(4): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(333): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0002a0001c0007others(30): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(34): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(150): Show | 336 | 386 | 0.8705 | 11 | c.*19 others(22): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 1235 | chr10 | TogoVar | ||||||
ADAM9_chr8_38991973_39110261 | 39106771 | T | TCTCTCTC others(4): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0297 | 1 | 332 | 0.0030 | 11 | c.*30 others(22): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 1511 | chr8 | TogoVar | ||||||
ADAMTS10_chr19_8575240_8615715 | 8612550 | C | CTTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG02896.hp1 HG02965.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0001a0001c0001t0002g0015a0001c0001t0002g0016others(1): Show | 5 | 384 | 0.0130 | 11 | c.-21 others(22): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 1836 | chr19 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33654874 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0143 | 1 | 224 | 0.0045 | 11 | c.119 others(30): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 7/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33849630 | A | ATATATAG others(4): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01081.hp2 HG01109.hp2 others(26): Show |
a0001a0002a0009others(3): Show | a0001c0001a0001c0003a0001c0011others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0093a0001c0001t0001g0095a0001c0001t0001g0099others(26): Show | 29 | 224 | 0.1295 | 11 | c.489 others(30): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | ||||||
ADAMTS13_chr9_133417367_133464386 | 133460460 | G | GGGCGGGG others(4): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02970.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0217a0001c0001t0001g0293 | 4 | 364 | 0.0110 | 11 | c.*12 others(22): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 1075 | chr9 | TogoVar | ||||||
ADAMTS13_chr9_133417367_133464386 | 133463251 | C | CCTGCCAC others(4): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 | a0022 | a0022c0041 | a0022c0041t0003 | a0022c0041t0003g0030 | 1 | 364 | 0.0028 | 11 | c.*40 others(22): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 3866 | chr9 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70671094 | T | TCTCTCTC others(4): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG00741.hp2 |
a0001 | a0001c0019 | a0001c0019t0003 | a0001c0019t0003g0122a0001c0019t0003g0123 | 2 | 354 | 0.0057 | 11 | c.-17 others(22): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 1411 | chr10 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70765949 | G | GGGCTAGG others(4): Show |
downstream_gene_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0095 | 1 | 354 | 0.0028 | 11 | c.*50 others(22): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 3509 | chr10 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5206425 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03453.hp2 |
a0002a0003 | a0002c0002a0003c0017 | a0002c0002t0001a0003c0017t0001 | a0002c0002t0001g0269a0003c0017t0001g0244 | 2 | 332 | 0.0060 | 11 | c.145 others(30): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS17_chr15_99966437_100346975 | 99977400 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0068 | a0002c0068t0013 | a0002c0068t0013g0032 | 1 | 228 | 0.0044 | 11 | c.295 others(30): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 99981353 | G | GCAGGGCC others(4): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02257.hp1 HG02486.hp1 others(11): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0005a0001c0014others(9): Show | a0001c0002t0012a0001c0005t0012a0001c0014t0034others(11): Show | a0001c0002t0012g0106a0001c0005t0012g0211a0001c0014t0034g0017others(11): Show | 14 | 228 | 0.0614 | 11 | c.295 others(30): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100116132 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01258.hp1 HG02293.hp2 HG03017.hp2 others(1): Show |
a0001a0004 | a0001c0010a0004c0003a0004c0008 | a0001c0010t0009a0004c0003t0001a0004c0008t0003 | a0001c0010t0009g0022a0004c0003t0001g0084a0004c0008t0003g0024others(1): Show | 4 | 228 | 0.0175 | 11 | c.188 others(28): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 13/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100258661 | T | TCACCTCC others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(41): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0005a0001c0007others(22): Show | a0001c0002t0004a0001c0002t0007a0001c0002t0012others(35): Show | a0001c0002t0004g0081a0001c0002t0007g0180a0001c0002t0012g0106others(41): Show | 44 | 228 | 0.1930 | 11 | c.103 others(30): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 6/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100258662 | T | TACCTCCC others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(154): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0005a0001c0007others(54): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(115): Show | a0001c0002t0002g0063a0001c0002t0002g0169a0001c0002t0004g0158others(154): Show | 157 | 228 | 0.6886 | 11 | c.103 others(30): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 6/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100301320 | G | GGTTATAT others(4): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0104 | 1 | 228 | 0.0044 | 11 | c.617 others(30): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 3/21 | chr15 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77334223 | T | TTATATAT others(4): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03225.hp2 |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0005a0003c0002t0006 | a0001c0001t0005g0088a0003c0002t0006g0108 | 2 | 326 | 0.0061 | 11 | c.185 others(30): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 12/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77400290 | C | CTTTTCTT others(4): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03195.hp1 HG03540.hp2 |
a0002a0004a0011 | a0002c0007a0004c0003a0011c0011 | a0002c0007t0005a0004c0003t0011a0011c0011t0012 | a0002c0007t0005g0177a0004c0003t0011g0155a0011c0011t0012g0054 | 3 | 326 | 0.0092 | 11 | c.495 others(30): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77415725 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02647.hp1 NA19030.hp2 NA19043.hp2 |
a0004a0022 | a0004c0003a0022c0030 | a0004c0003t0011a0004c0003t0051a0022c0030t0002 | a0004c0003t0011g0042a0004c0003t0051g0321a0022c0030t0002g0315 | 3 | 326 | 0.0092 | 11 | c.495 others(30): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77422291 | C | CACCTATA others(4): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0004 | a0004c0003 | a0004c0003t0051 | a0004c0003t0051g0321 | 1 | 326 | 0.0031 | 11 | c.495 others(28): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129658377 | G | GAGAGAGA others(4): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 226 | 0.0044 | 11 | c.230 others(28): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 14/22 | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129702929 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02886.hp1 HG02896.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0004 | a0001c0001t0001a0001c0009t0001a0002c0004t0001 | a0001c0001t0001g0001a0001c0009t0001g0010a0002c0004t0001g0096 | 4 | 226 | 0.0177 | 11 | c.316 others(30): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129702941 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02622.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0021a0001c0001t0001g0024 | 3 | 226 | 0.0133 | 11 | c.316 others(30): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129702941 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0025a0001c0001t0001g0128 | 3 | 226 | 0.0133 | 11 | c.316 others(30): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129702941 | A | AAATATAT others(4): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 226 | 0.0044 | 11 | c.316 others(30): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129702941 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 226 | 0.0044 | 11 | c.316 others(30): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129714432 | A | AAAGAAAA others(4): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0055a0001c0001t0007g0041 | 2 | 226 | 0.0089 | 11 | c.331 others(32): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS20_chr12_43348866_43557203 | 43405229 | C | CCAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0050 | 1 | 306 | 0.0033 | 11 | c.428 others(30): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43409601 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG01346.hp2 others(14): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0005others(3): Show | a0001c0002t0002a0001c0003t0001a0001c0005t0001others(3): Show | a0001c0002t0002g0277a0001c0003t0001g0200a0001c0005t0001g0247others(14): Show | 17 | 306 | 0.0556 | 11 | c.428 others(32): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43421282 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18940.hp2 NA18947.hp1 NA18963.hp2 others(3): Show |
a0002 | a0002c0004a0002c0027 | a0002c0004t0001a0002c0004t0002a0002c0027t0001 | a0002c0004t0001g0251a0002c0004t0001g0254a0002c0004t0001g0255others(3): Show | 6 | 306 | 0.0196 | 11 | c.428 others(30): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0255 | 1 | 306 | 0.0033 | 11 | c.161 others(30): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460989 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0021a0001c0012t0001g0022 | 2 | 306 | 0.0065 | 11 | c.161 others(30): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43528348 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02071.hp1 NA18959.hp2 NA18984.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222a0001c0001t0001g0226a0001c0001t0001g0232others(2): Show | 5 | 306 | 0.0163 | 11 | c.613 others(28): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179140799 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0020 | a0020c0113 | a0020c0113t0029 | a0020c0113t0029g0276 | 1 | 276 | 0.0036 | 11 | c.163 others(28): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 10/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179189510 | G | GCTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02451.hp1 |
a0001a0003 | a0001c0014a0003c0003 | a0001c0014t0008a0003c0003t0004 | a0001c0014t0008g0065a0003c0003t0004g0240 | 2 | 276 | 0.0073 | 11 | c.892 others(28): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179299530 | A | ACACACAC others(4): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0196 | 1 | 276 | 0.0036 | 11 | c.535 others(30): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72455977 | T | TAGTATAT others(4): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01884.hp1 HG02055.hp1 others(2): Show |
a0001a0002a0003 | a0001c0003a0002c0002a0002c0009others(1): Show | a0001c0003t0003a0002c0002t0001a0002c0009t0001others(1): Show | a0001c0003t0003g0022a0002c0002t0001g0128a0002c0009t0001g0084others(2): Show | 5 | 182 | 0.0275 | 11 | c.505 others(30): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72526861 | G | GGTATGAC others(4): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00741.hp2 others(62): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0075a0001c0001t0001g0083a0001c0001t0001g0089others(62): Show | 65 | 182 | 0.3571 | 11 | c.504 others(30): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72530247 | T | TTTATATA others(4): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 182 | 0.0055 | 11 | c.504 others(30): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72549950 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 | 1 | 182 | 0.0055 | 11 | c.98- others(26): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72552490 | G | GCCGGTAA others(4): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 | 1 | 182 | 0.0055 | 11 | c.98- others(26): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64517416 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 286 | 0.0035 | 11 | c.*6- others(24): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 39/39 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64643445 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0009 | 1 | 286 | 0.0035 | 11 | c.171 others(30): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 11/39 | chr3 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18537968 | A | AAAGAAGA others(4): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(62): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0003a0001c0005others(31): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(50): Show | a0001c0002t0001g0052a0001c0002t0002g0061a0001c0003t0001g0146others(62): Show | 65 | 218 | 0.2982 | 11 | c.237 others(28): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18655806 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0008 | a0008c0017 | a0008c0017t0002 | a0008c0017t0002g0042 | 1 | 218 | 0.0046 | 11 | c.835 others(28): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18681697 | T | TGTGGGGG others(4): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0005 | a0005c0060 | a0005c0060t0001 | a0005c0060t0001g0048 | 1 | 218 | 0.0046 | 11 | c.134 others(28): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |