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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACYP2_chr2_53966113_54310300 | 54202706 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01928.hp2 HG02559.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0003a0002c0003t0002 | a0001c0002t0003g0082a0002c0003t0002g0029 | 2 | 272 | 0.0074 | -15 | c.404 others(34): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54279585 | CAGAGCTG others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(136): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0115a0001c0001t0001g0118others(136): Show | 139 | 272 | 0.5110 | -15 | c.405 others(34): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ADAD1_chr4_122374011_122434784 | 122378285 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG02965.hp1 NA18944.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161a0001c0001t0001g0292 | 2 | 376 | 0.0053 | -15 | c.-91 others(24): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 725 | chr4 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58593149 | ATTTTTTT others(8): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02451.hp1 HG02559.hp1 HG02896.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0028a0001c0001t0032others(5): Show | a0001c0001t0025g0284a0001c0001t0025g0287a0001c0001t0028g0185others(8): Show | 11 | 342 | 0.0322 | -15 | c.*43 others(26): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 16/16 | 4383 | chr15 | TogoVar | |||||
ADAM10_chr15_58583809_58754707 | 58720369 | CTTTTATT others(8): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG03017.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0043a0001c0001t0077a0001c0001t0087 | a0001c0001t0043g0147a0001c0001t0077g0006a0001c0001t0087g0052 | 3 | 342 | 0.0088 | -15 | c.56- others(30): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58720394 | ATTTTATT others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(170): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(64): Show | a0001c0001t0001g0100a0001c0001t0001g0106a0001c0001t0001g0108others(170): Show | 173 | 342 | 0.5059 | -15 | c.56- others(30): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58720399 | ATTTTATT others(8): Show |
A | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 342 | 0.0029 | -15 | c.56- others(30): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126113688 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG04204.hp1 NA18612.hp2 NA18951.hp2 others(1): Show |
a0002 | a0002c0001a0002c0005a0002c0006others(1): Show | a0002c0001t0001a0002c0005t0003a0002c0006t0001others(1): Show | a0002c0001t0001g0107a0002c0005t0003g0106a0002c0006t0001g0165others(1): Show | 4 | 252 | 0.0159 | -15 | c.604 others(32): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 6/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126193904 | GAAATAAA others(8): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00621.hp1 others(62): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0001c0004others(22): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(46): Show | a0001c0002t0001g0149a0001c0002t0002g0186a0001c0002t0006g0016others(62): Show | 65 | 252 | 0.2579 | -15 | c.261 others(34): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | ||||||
ADAM19_chr5_157472304_157580775 | 157576239 | CTTTTTTT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(57): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0029a0001c0001t0001g0033a0001c0001t0001g0034others(57): Show | 60 | 310 | 0.1936 | -15 | c.-55 others(24): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 465 | chr5 | TogoVar | ||||||
ADAM21_chr14_70447174_70464905 | 70449843 | TGAACTCA others(8): Show |
T | upstream_gene_variant | MODIFIER | HG02896.hp1 | a0011 | a0011c0025 | a0011c0025t0003 | a0011c0025t0003g0050 | 1 | 426 | 0.0024 | -15 | c.-25 others(26): Show |
ADAM21 | ENSG00000139985.8 | transcript | ENST00000603540.2 | protein_coding | 2330 | chr14 | TogoVar | ||||||
ADAM23_chr2_206438532_206626127 | 206477894 | AAAAATAT others(8): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0302 | 1 | 358 | 0.0028 | -15 | c.433 others(32): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ADAM29_chr4_174913358_174983180 | 174914150 | CACACACA others(8): Show |
C | upstream_gene_variant | MODIFIER | NA18942.hp2 NA19082.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002 | a0001c0001t0002g0284a0003c0003t0002g0257 | 2 | 330 | 0.0061 | -15 | c.-48 others(26): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 4207 | chr4 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39285625 | GTTTTTTT others(8): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp2 HG01175.hp2 HG02004.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0102a0001c0002t0002g0103a0001c0002t0002g0104 | 3 | 257 | 0.0117 | -15 | c.*82 others(24): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 709 | chr8 | TogoVar | ||||||
ADAM33_chr20_3662975_3687010 | 3667844 | GTCAGCCA others(8): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02280.hp2 |
a0000 | a0000c0013a0000c0029 | a0000c0013t0021a0000c0029t0022 | a0000c0013t0021g0065a0000c0029t0022g0147 | 2 | 462 | 0.0043 | -15 | c.*11 others(26): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 130 | chr20 | TogoVar | ||||||
ADAM33_chr20_3662975_3687010 | 3667874 | ACCAACCA others(8): Show |
A | downstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0256 | 1 | 462 | 0.0022 | -15 | c.*10 others(26): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 100 | chr20 | TogoVar | ||||||
ADAM7_chr8_24436026_24514565 | 24504023 | AAAAATAA others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(88): Show |
a0002a0003a0004others(3): Show | a0002c0003a0002c0007a0002c0012others(7): Show | a0002c0003t0001a0002c0003t0012a0002c0003t0015others(9): Show | a0002c0003t0001g0001a0002c0003t0001g0012a0002c0003t0001g0013others(78): Show | 91 | 360 | 0.2528 | -15 | c.220 others(34): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM9_chr8_38991973_39110261 | 39068675 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18944.hp1 NA18974.hp1 NA19077.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0033a0001c0001t0001g0265others(1): Show | 4 | 332 | 0.0121 | -15 | c.159 others(34): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAMTS10_chr19_8575240_8615715 | 8581130 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01071.hp1 others(9): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0004a0001c0002t0004a0001c0002t0009others(2): Show | a0001c0001t0004g0307a0001c0002t0004g0010a0001c0002t0004g0124others(8): Show | 12 | 384 | 0.0313 | -15 | c.320 others(32): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 25/25 | chr19 | TogoVar | ||||||
ADAMTS10_chr19_8575240_8615715 | 8615692 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00673.hp2 others(37): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0003c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0042others(35): Show | 40 | 384 | 0.1042 | -15 | c.-52 others(26): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 4978 | chr19 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33592243 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02257.hp1 | a0004 | a0004c0007 | a0004c0007t0014 | a0004c0007t0014g0113 | 1 | 224 | 0.0045 | -15 | c.265 others(34): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33645144 | TTTATTAT others(8): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(102): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0008others(24): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(38): Show | a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0001g0024others(102): Show | 105 | 224 | 0.4688 | -15 | c.148 others(34): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 9/23 | chr5 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33883316 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG01952.hp2 HG01975.hp2 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0028others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0179a0001c0001t0001g0186a0001c0001t0003g0180others(11): Show | 14 | 224 | 0.0625 | -15 | c.128 others(32): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 1/23 | chr5 | TogoVar | ||||||
ADAMTS13_chr9_133417367_133464386 | 133455593 | AGTGCAGT others(8): Show |
A | intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 364 | 0.0028 | -15 | c.340 others(32): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5215702 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02976.hp2 NA19030.hp2 |
a0001a0004a0009 | a0001c0001a0004c0024a0009c0039 | a0001c0001t0001a0004c0024t0006a0009c0039t0015 | a0001c0001t0001g0042a0004c0024t0006g0002a0009c0039t0015g0099 | 3 | 332 | 0.0090 | -15 | c.160 others(34): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5215778 | ATGGTATA others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00558.hp1 others(123): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0010a0001c0022others(45): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(97): Show | a0001c0001t0001g0042a0001c0001t0001g0050a0001c0001t0002g0010others(122): Show | 126 | 332 | 0.3795 | -15 | c.160 others(34): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS17_chr15_99966437_100346975 | 99977381 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0004 | a0002c0004t0007 | a0002c0004t0007g0204 | 1 | 228 | 0.0044 | -15 | c.295 others(34): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 99977383 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0007 | a0001c0007t0023 | a0001c0007t0023g0215 | 1 | 228 | 0.0044 | -15 | c.295 others(34): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 99977385 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0011 | a0002c0011t0039 | a0002c0011t0039g0013 | 1 | 228 | 0.0044 | -15 | c.295 others(34): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100253340 | AAGGGGAA others(8): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0029 | a0002c0029t0025 | a0002c0029t0025g0212 | 1 | 228 | 0.0044 | -15 | c.107 others(32): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 7/21 | chr15 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77375890 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(101): Show |
a0001a0003a0004others(11): Show | a0001c0001a0001c0016a0001c0023others(18): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0002g0001a0001c0001t0002g0025a0001c0001t0002g0029others(100): Show | 104 | 326 | 0.3190 | -15 | c.496 others(32): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129702934 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00558.hp2 others(68): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0015a0001c0003t0001others(12): Show | a0001c0001t0001g0040a0001c0001t0001g0048a0001c0001t0001g0114others(68): Show | 71 | 226 | 0.3142 | -15 | c.316 others(34): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129702936 | AAAAAAAT others(8): Show |
A | intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 226 | 0.0044 | -15 | c.316 others(34): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS20_chr12_43348866_43557203 | 43405229 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG01256.hp1 HG02145.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020a0001c0002t0001g0052a0001c0002t0001g0066 | 3 | 306 | 0.0098 | -15 | c.428 others(34): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43405417 | CTAATAAT others(8): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG02055.hp2 others(36): Show |
a0001a0013 | a0001c0001a0001c0021a0001c0022others(1): Show | a0001c0001t0001a0001c0021t0001a0001c0022t0001others(1): Show | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0031others(36): Show | 39 | 306 | 0.1275 | -15 | c.428 others(34): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179129493 | GGTACTTT others(8): Show |
G | intron_variant | MODIFIER | NA19084.hp2 | a0002 | a0002c0017 | a0002c0017t0004 | a0002c0017t0004g0158 | 1 | 276 | 0.0036 | -15 | c.245 others(32): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 16/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179153111 | AGGCCTCT others(8): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG02818.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0014a0001c0075others(4): Show | a0001c0001t0001a0001c0014t0008a0001c0075t0020others(4): Show | a0001c0001t0001g0083a0001c0014t0008g0065a0001c0075t0020g0074others(4): Show | 7 | 276 | 0.0254 | -15 | c.151 others(32): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 9/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179283942 | GATGATTA others(8): Show |
G | intron_variant | MODIFIER | HG03195.hp1 | a0010 | a0010c0036 | a0010c0036t0004 | a0010c0036t0004g0063 | 1 | 276 | 0.0036 | -15 | c.535 others(34): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179302379 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02630.hp1 HG02895.hp1 |
a0002a0003a0036 | a0002c0030a0003c0109a0036c0081 | a0002c0030t0011a0003c0109t0012a0036c0081t0028 | a0002c0030t0011g0128a0003c0109t0012g0203a0036c0081t0028g0053 | 3 | 276 | 0.0109 | -15 | c.535 others(34): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72373899 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01258.hp1 others(35): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0099a0001c0001t0001g0105a0001c0001t0001g0107others(35): Show | 38 | 182 | 0.2088 | -15 | c.662 others(34): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72450969 | AAGAAGAG others(8): Show |
A | intron_variant | MODIFIER | HG02258.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0073a0001c0001t0005g0011 | 2 | 182 | 0.0110 | -15 | c.505 others(34): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72550042 | AGAGGAAG others(8): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG04228.hp1 HG04228.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0027 | a0002c0002t0001g0126a0002c0002t0001g0127a0002c0002t0027g0137 | 3 | 182 | 0.0165 | -15 | c.98- others(30): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | ||||||
ADAMTS5_chr21_26912922_26972088 | 26951679 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01515.hp1 HG03209.hp1 NA18747.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0004 | a0001c0001t0001a0001c0001t0110a0001c0001t0118others(3): Show | a0001c0001t0001g0343a0001c0001t0110g0166a0001c0001t0118g0191others(3): Show | 6 | 398 | 0.0151 | -15 | c.123 others(34): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 2/7 | chr21 | TogoVar | ||||||
ADAMTS5_chr21_26912922_26972088 | 26963641 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01099.hp1 HG01257.hp2 others(11): Show |
a0001a0002a0004others(1): Show | a0001c0005a0002c0002a0002c0023others(2): Show | a0001c0005t0004a0001c0005t0018a0001c0005t0046others(6): Show | a0001c0005t0004g0040a0001c0005t0004g0041a0001c0005t0004g0042others(11): Show | 14 | 398 | 0.0352 | -15 | c.110 others(34): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 1/7 | chr21 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65275396 | AAAGAAAG others(8): Show |
A | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 204 | 0.0049 | -15 | c.151 others(34): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 11/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65276016 | ATGAAAGT others(8): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01071.hp2 HG01074.hp1 others(48): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0010others(48): Show | 51 | 204 | 0.2500 | -15 | c.151 others(34): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 11/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65398805 | AAAGAAAG others(8): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG02451.hp1 HG02486.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0025a0001c0001t0001g0119a0001c0001t0002g0024others(6): Show | 9 | 204 | 0.0441 | -15 | c.107 others(36): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/24 | chr5 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18531415 | CCTTTTGT others(8): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02622.hp1 HG03139.hp1 |
a0001a0012a0027 | a0001c0056a0012c0031a0027c0028 | a0001c0056t0003a0012c0031t0003a0027c0028t0010 | a0001c0056t0003g0006a0012c0031t0003g0005a0027c0028t0010g0007 | 3 | 218 | 0.0138 | -15 | c.192 others(32): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 2/28 | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18603341 | ATATGCTA others(8): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp2 HG01168.hp1 others(11): Show |
a0001a0002a0004others(3): Show | a0001c0005a0001c0007a0001c0080others(5): Show | a0001c0005t0003a0001c0007t0031a0001c0080t0002others(9): Show | a0001c0005t0003g0011a0001c0007t0031g0140a0001c0080t0002g0004others(11): Show | 14 | 218 | 0.0642 | -15 | c.475 others(34): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18706111 | TGCTAAAC others(8): Show |
T | intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0010 | a0001c0010t0004 | a0001c0010t0004g0150 | 1 | 218 | 0.0046 | -15 | c.157 others(32): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |