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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM12_chr10_126007391_126393477 | 126086680 | A | AAAAAAAT others(8): Show |
intron_variant | MODIFIER | HG02257.hp1 NA19004.hp2 |
a0001a0002 | a0001c0038a0002c0001 | a0001c0038t0009a0002c0001t0045 | a0001c0038t0009g0070a0002c0001t0045g0051 | 2 | 252 | 0.0079 | 15 | c.114 others(34): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126113687 | A | AAAAAAAT others(8): Show |
intron_variant | MODIFIER | HG02132.hp2 NA18952.hp2 |
a0001 | a0001c0002a0001c0042 | a0001c0002t0002a0001c0042t0010 | a0001c0002t0002g0038a0001c0042t0010g0067 | 2 | 252 | 0.0079 | 15 | c.604 others(32): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 6/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126113687 | A | AAATATAT others(8): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0054 | a0002c0054t0001 | a0002c0054t0001g0011 | 1 | 252 | 0.0040 | 15 | c.604 others(32): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 6/22 | chr10 | TogoVar | ||||||
ADAM17_chr2_9483486_9560830 | 9489259 | A | ATTTTTTT others(8): Show |
3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02451.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0050a0001c0001t0019g0095a0001c0001t0019g0096 | 3 | 234 | 0.0128 | 15 | c.*90 others(24): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 19/19 | 917 | chr2 | TogoVar | |||||
ADAM17_chr2_9483486_9560830 | 9520964 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01074.hp1 HG01099.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(3): Show | a0001c0001t0001g0027a0001c0001t0007g0106a0001c0001t0007g0138others(6): Show | 9 | 234 | 0.0385 | 15 | c.957 others(30): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 8/18 | chr2 | TogoVar | ||||||
ADAM17_chr2_9483486_9560830 | 9527283 | C | CAAACAAA others(8): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp2 HG02647.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0056a0001c0001t0057others(2): Show | a0001c0001t0020g0043a0001c0001t0020g0044a0001c0001t0020g0046others(4): Show | 7 | 234 | 0.0299 | 15 | c.619 others(30): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 5/18 | chr2 | TogoVar | ||||||
ADAM17_chr2_9483486_9560830 | 9537876 | A | AGAGGGGA others(8): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0047 | 1 | 234 | 0.0043 | 15 | c.231 others(32): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 2/18 | chr2 | TogoVar | ||||||
ADAM17_chr2_9483486_9560830 | 9538007 | G | GAGGGGAA others(8): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0003 | a0002c0003t0039 | a0002c0003t0039g0056 | 1 | 234 | 0.0043 | 15 | c.231 others(32): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 2/18 | chr2 | TogoVar | ||||||
ADAM17_chr2_9483486_9560830 | 9538016 | A | AGAGGGAA others(8): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG02109.hp2 others(9): Show |
a0002a0005 | a0002c0003a0005c0010 | a0002c0003t0026a0002c0003t0040a0002c0003t0041others(8): Show | a0002c0003t0026g0061a0002c0003t0026g0063a0002c0003t0040g0054others(9): Show | 12 | 234 | 0.0513 | 15 | c.231 others(32): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 2/18 | chr2 | TogoVar | ||||||
ADAM17_chr2_9483486_9560830 | 9538016 | A | AGAGGGGA others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(122): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(46): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(121): Show | 125 | 234 | 0.5342 | 15 | c.231 others(32): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 2/18 | chr2 | TogoVar | ||||||
ADAM18_chr8_39579568_39735065 | 39701117 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01952.hp2 HG02559.hp1 others(7): Show |
a0001a0005 | a0001c0002a0005c0016 | a0001c0002t0001a0005c0016t0001 | a0001c0002t0001g0026a0001c0002t0001g0031a0001c0002t0001g0032others(7): Show | 10 | 347 | 0.0288 | 15 | c.190 others(34): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM19_chr5_157472304_157580775 | 157576239 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG01169.hp2 HG02622.hp2 |
a0002 | a0002c0002a0002c0014 | a0002c0002t0007a0002c0014t0007 | a0002c0002t0007g0285a0002c0014t0007g0268a0002c0014t0007g0269 | 3 | 310 | 0.0097 | 15 | c.-54 others(24): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 465 | chr5 | TogoVar | ||||||
ADAM20_chr14_70517358_70540004 | 70536465 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG01070.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0035others(3): Show | 11 | 400 | 0.0275 | 15 | c.-18 others(26): Show |
ADAM20 | ENSG00000134007.5 | transcript | ENST00000256389.5 | protein_coding | 1462 | chr14 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 87966721 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02258.hp2 NA18994.hp1 |
a0002a0013 | a0002c0002a0013c0015 | a0002c0002t0002a0013c0015t0003 | a0002c0002t0002g0227a0013c0015t0003g0031 | 2 | 230 | 0.0087 | 15 | c.247 others(34): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADAM22_chr7_87929251_88207889 | 87982699 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 230 | 0.0044 | 15 | c.323 others(32): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | chr7 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 88039449 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01433.hp1 HG01993.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001a0003c0003t0002 | a0001c0001t0001g0018a0001c0001t0001g0019a0003c0003t0001g0007others(1): Show | 4 | 230 | 0.0174 | 15 | c.324 others(34): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADAM22_chr7_87929251_88207889 | 88039464 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01106.hp1 NA18972.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004 | a0001c0001t0001g0020a0002c0002t0004g0202 | 2 | 230 | 0.0087 | 15 | c.324 others(34): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADAM22_chr7_87929251_88207889 | 88039464 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG06807.hp2 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120a0001c0001t0001g0156 | 2 | 230 | 0.0087 | 15 | c.324 others(34): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADAM23_chr2_206438532_206626127 | 206443457 | C | CGCCCGCT others(8): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 HG02896.hp1 HG02897.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0026others(3): Show | a0001c0001t0001g0300a0001c0001t0002g0301a0001c0001t0026g0299others(5): Show | 8 | 358 | 0.0224 | 15 | c.-41 others(24): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 74 | chr2 | TogoVar | ||||||
ADAM23_chr2_206438532_206626127 | 206473572 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0101others(7): Show | 10 | 358 | 0.0279 | 15 | c.433 others(32): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ADAM23_chr2_206438532_206626127 | 206477891 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0324 | 1 | 358 | 0.0028 | 15 | c.433 others(32): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 2/25 | chr2 | TogoVar | ||||||
ADAM23_chr2_206438532_206626127 | 206477893 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 358 | 0.0028 | 15 | c.433 others(32): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 2/25 | chr2 | TogoVar | ||||||
ADAM23_chr2_206438532_206626127 | 206477895 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0295 | 1 | 358 | 0.0028 | 15 | c.433 others(32): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 2/25 | chr2 | TogoVar | ||||||
ADAM23_chr2_206438532_206626127 | 206477897 | A | AAAAATAT others(8): Show |
intron_variant | MODIFIER | NA18990.hp2 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099a0001c0001t0001g0104 | 2 | 358 | 0.0056 | 15 | c.433 others(32): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ADAM23_chr2_206438532_206626127 | 206477897 | A | AAATATAT others(8): Show |
intron_variant | MODIFIER | NA18940.hp2 NA18962.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116a0001c0001t0001g0127a0001c0001t0001g0128 | 3 | 358 | 0.0084 | 15 | c.433 others(32): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ADAM23_chr2_206438532_206626127 | 206477897 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 358 | 0.0028 | 15 | c.433 others(32): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 2/25 | chr2 | TogoVar | ||||||
ADAM28_chr8_24289069_24364014 | 24358317 | T | TATAGAAT others(8): Show |
3_prime_UTR_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0006 | 1 | 348 | 0.0029 | 15 | c.*39 others(26): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 23/23 | 3914 | chr8 | TogoVar | |||||
ADAM29_chr4_174913358_174983180 | 174965508 | T | TATCTATC others(8): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0233 | 1 | 330 | 0.0030 | 15 | c.-18 others(34): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADAM2_chr8_39738735_39843227 | 39760882 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 329 | 0.0030 | 15 | c.161 others(32): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 15/20 | chr8 | TogoVar | ||||||
ADAM33_chr20_3662975_3687010 | 3667874 | A | ACCAACCA others(8): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0030 | a0001c0030t0001 | a0001c0030t0001g0205 | 1 | 462 | 0.0022 | 15 | c.*10 others(26): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 100 | chr20 | TogoVar | ||||||
ADAMTS10_chr19_8575240_8615715 | 8581130 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01993.hp1 HG03195.hp1 others(4): Show |
a0001a0002a0010 | a0001c0002a0001c0009a0002c0005others(1): Show | a0001c0002t0001a0001c0009t0001a0001c0009t0002others(2): Show | a0001c0002t0001g0080a0001c0002t0001g0228a0001c0002t0001g0241others(4): Show | 7 | 384 | 0.0182 | 15 | c.320 others(32): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 25/25 | chr19 | TogoVar | ||||||
ADAMTS10_chr19_8575240_8615715 | 8612550 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00735.hp2 others(44): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0019others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0005a0001c0001t0001g0034a0001c0001t0001g0035others(44): Show | 47 | 384 | 0.1224 | 15 | c.-21 others(26): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 1836 | chr19 | TogoVar | ||||||
ADAMTS13_chr9_133417367_133464386 | 133460471 | C | CGGCGGGG others(8): Show |
downstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 364 | 0.0028 | 15 | c.*12 others(26): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 1086 | chr9 | TogoVar | ||||||
ADAMTS15_chr11_130443645_130481645 | 130468939 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG02559.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0006t0006 | a0001c0001t0003g0052a0001c0001t0003g0094a0001c0001t0003g0173others(1): Show | 4 | 398 | 0.0101 | 15 | c.154 others(32): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5138659 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | NA18950.hp1 NA19083.hp2 |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0003a0006c0008t0004 | a0001c0001t0003g0329a0006c0008t0004g0007 | 2 | 332 | 0.0060 | 15 | c.-18 others(26): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 1670 | chr5 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5168352 | C | CATTATTA others(8): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0064 | 1 | 332 | 0.0030 | 15 | c.502 others(34): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5305067 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0029 | a0029c0075 | a0029c0075t0001 | a0029c0075t0001g0301 | 1 | 332 | 0.0030 | 15 | c.318 others(34): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS17_chr15_99966437_100346975 | 100001976 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(78): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0005a0001c0007others(31): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0007others(65): Show | a0001c0002t0002g0063a0001c0002t0002g0169a0001c0002t0004g0158others(78): Show | 81 | 228 | 0.3553 | 15 | c.259 others(34): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100091010 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(17): Show |
a0001a0002a0003others(3): Show | a0001c0005a0001c0010a0001c0017others(8): Show | a0001c0005t0002a0001c0005t0011a0001c0005t0072others(13): Show | a0001c0005t0002g0075a0001c0005t0011g0179a0001c0005t0072g0133others(17): Show | 20 | 228 | 0.0877 | 15 | c.213 others(34): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100116132 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0007 | a0001c0007t0006 | a0001c0007t0006g0062 | 1 | 228 | 0.0044 | 15 | c.188 others(32): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 13/21 | chr15 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129684499 | G | GCATTATA others(8): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00558.hp2 others(47): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(13): Show | a0001c0001t0001g0019a0001c0001t0001g0021a0001c0001t0001g0025others(47): Show | 50 | 226 | 0.2212 | 15 | c.281 others(32): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS20_chr12_43348866_43557203 | 43409601 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02145.hp2 NA19004.hp1 |
a0001a0016 | a0001c0002a0016c0028 | a0001c0002t0001a0016c0028t0001 | a0001c0002t0001g0066a0016c0028t0001g0253 | 2 | 306 | 0.0065 | 15 | c.428 others(36): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43420800 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG02071.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0021 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0019a0001c0001t0001g0125a0001c0001t0001g0173others(15): Show | 18 | 306 | 0.0588 | 15 | c.428 others(34): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460964 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0126 | 1 | 306 | 0.0033 | 15 | c.161 others(34): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02897.hp2 NA18969.hp2 NA18989.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0002a0001c0002t0001g0109a0001c0002t0001g0122 | 3 | 306 | 0.0098 | 15 | c.161 others(34): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01123.hp1 HG01255.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0001a0001c0002t0002 | a0001c0001t0005g0050a0001c0002t0001g0089a0001c0002t0001g0095others(5): Show | 8 | 306 | 0.0261 | 15 | c.161 others(34): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0113 | 1 | 306 | 0.0033 | 15 | c.161 others(34): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179140799 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0052 | a0001c0052t0002 | a0001c0052t0002g0148 | 1 | 276 | 0.0036 | 15 | c.163 others(32): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 10/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179173212 | T | TTAATAAT others(8): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02723.hp1 HG02895.hp2 others(2): Show |
a0001a0002a0004 | a0001c0048a0001c0049a0001c0067others(2): Show | a0001c0048t0004a0001c0049t0004a0001c0067t0004others(2): Show | a0001c0048t0004g0195a0001c0049t0004g0149a0001c0067t0004g0050others(2): Show | 5 | 276 | 0.0181 | 15 | c.975 others(32): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 5/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179205757 | G | GTTATTAT others(8): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01346.hp2 others(9): Show |
a0001a0002a0004others(2): Show | a0001c0014a0002c0002a0002c0007others(6): Show | a0001c0014t0002a0001c0014t0013a0002c0002t0001others(7): Show | a0001c0014t0002g0073a0001c0014t0013g0112a0002c0002t0001g0008others(9): Show | 12 | 276 | 0.0435 | 15 | c.891 others(32): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4/21 | chr5 | TogoVar |