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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS18_chr16_77277128_77440034 | 77355202 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01346.hp2 others(4): Show |
a0005a0007a0017 | a0005c0004a0007c0010a0017c0020 | a0005c0004t0001a0007c0010t0004a0007c0010t0016others(1): Show | a0005c0004t0001g0215a0005c0004t0001g0221a0005c0004t0001g0234others(4): Show | 7 | 326 | 0.0215 | 14 | c.146 others(31): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 9/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77370790 | G | GATATATA others(7): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02922.hp2 |
a0004 | a0004c0003a0004c0029 | a0004c0003t0005a0004c0029t0022 | a0004c0003t0005g0317a0004c0029t0022g0305 | 2 | 326 | 0.0061 | 14 | c.496 others(31): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129492506 | A | AGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01257.hp2 HG02622.hp2 others(3): Show |
a0001a0002a0003 | a0001c0006a0001c0009a0002c0002others(2): Show | a0001c0006t0002a0001c0009t0001a0002c0002t0001others(3): Show | a0001c0006t0002g0124a0001c0009t0001g0009a0002c0002t0001g0110others(3): Show | 6 | 226 | 0.0266 | 14 | c.748 others(33): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129504872 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01433.hp1 HG02071.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0002 | a0001c0001t0001a0001c0010t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0128a0001c0001t0001g0195a0001c0010t0001g0058others(9): Show | 12 | 226 | 0.0531 | 14 | c.748 others(31): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129510856 | G | GATATATA others(7): Show |
intron_variant | MODIFIER | HG02074.hp1 NA19240.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0038a0002c0002t0002g0083 | 2 | 226 | 0.0089 | 14 | c.913 others(31): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129522332 | C | CACACACA others(7): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 226 | 0.0044 | 14 | c.914 others(31): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129522332 | C | CACATATA others(7): Show |
intron_variant | MODIFIER | HG02145.hp2 NA18906.hp2 NA18942.hp1 |
a0001a0002 | a0001c0001a0001c0016a0002c0002 | a0001c0001t0001a0001c0016t0014a0002c0002t0001 | a0001c0001t0001g0039a0001c0016t0014g0198a0002c0002t0001g0102 | 3 | 226 | 0.0133 | 14 | c.914 others(31): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129522332 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0069 | 1 | 226 | 0.0044 | 14 | c.914 others(31): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129608112 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 226 | 0.0044 | 14 | c.147 others(35): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129608116 | G | GTGTATAT others(7): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 226 | 0.0044 | 14 | c.147 others(35): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129608116 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0182 | 1 | 226 | 0.0044 | 14 | c.147 others(35): 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(7): Show |
intron_variant | MODIFIER | HG01192.hp1 NA18522.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0001 | a0001c0001t0004g0050a0001c0003t0001g0203 | 2 | 226 | 0.0089 | 14 | c.187 others(33): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129658313 | G | GAAAGAAA others(7): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 226 | 0.0044 | 14 | c.230 others(31): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129658321 | G | GAAAGAAA others(7): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0174 | 1 | 226 | 0.0044 | 14 | c.230 others(31): 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(7): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0089 | 1 | 226 | 0.0044 | 14 | c.230 others(31): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129702941 | A | AAAAAATA others(7): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0210 | 1 | 226 | 0.0044 | 14 | c.316 others(33): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS1_chr21_26830755_26850409 | 26849664 | G | GTTTTTTT others(7): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG01109.hp2 HG01981.hp2 others(6): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0011others(2): Show | a0001c0001t0003a0001c0001t0012a0001c0003t0001others(5): Show | a0001c0001t0003g0005a0001c0001t0012g0078a0001c0003t0001g0147others(5): Show | 9 | 480 | 0.0188 | 14 | c.-47 others(25): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 4256 | chr21 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43420800 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01516.hp1 HG02559.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0002a0001c0009t0001 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0097others(12): Show | 15 | 306 | 0.0490 | 14 | c.428 others(33): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0114 | 1 | 306 | 0.0033 | 14 | c.161 others(33): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG02698.hp1 HG04115.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0117a0001c0002t0002g0274 | 2 | 306 | 0.0065 | 14 | c.161 others(33): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0014 | a0014c0019 | a0014c0019t0003 | a0014c0019t0003g0001 | 1 | 306 | 0.0033 | 14 | c.161 others(33): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43501471 | G | GCACACAC others(7): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 306 | 0.0033 | 14 | c.867 others(29): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43501473 | G | GCACACAC others(7): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02922.hp2 |
a0001a0014 | a0001c0001a0014c0019 | a0001c0001t0003a0014c0019t0003 | a0001c0001t0003g0004a0014c0019t0003g0001 | 2 | 306 | 0.0065 | 14 | c.867 others(29): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43501479 | G | GCACACAC others(7): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01952.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045a0001c0001t0001g0046 | 2 | 306 | 0.0065 | 14 | c.867 others(29): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43501481 | G | GCACACAC others(7): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02486.hp1 HG02559.hp1 others(1): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0008 | a0001c0001t0001a0001c0002t0001a0006c0008t0001 | a0001c0001t0001g0080a0001c0001t0001g0087a0001c0002t0001g0053others(1): Show | 4 | 306 | 0.0131 | 14 | c.867 others(29): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179140799 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01934.hp2 HG02109.hp1 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0046a0001c0048a0002c0058others(5): Show | a0001c0046t0002a0001c0048t0004a0002c0058t0002others(5): Show | a0001c0046t0002g0194a0001c0048t0004g0195a0002c0058t0002g0068others(5): Show | 8 | 276 | 0.0290 | 14 | c.163 others(31): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 10/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179223526 | A | ATGCACTC others(7): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0009 | a0009c0021 | a0009c0021t0003 | a0009c0021t0003g0016 | 1 | 276 | 0.0036 | 14 | c.689 others(33): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179299530 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG00735.hp1 others(30): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0052others(19): Show | a0001c0001t0001a0001c0004t0002a0001c0004t0004others(24): Show | a0001c0001t0001g0049a0001c0001t0001g0054a0001c0004t0002g0005others(30): Show | 33 | 276 | 0.1196 | 14 | c.535 others(33): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72288923 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 182 | 0.0055 | 14 | c.293 others(29): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 20/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72400327 | T | TATACGTG others(7): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01175.hp2 HG02071.hp2 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0092a0001c0001t0001g0108a0001c0001t0001g0109others(16): Show | 19 | 182 | 0.1044 | 14 | c.661 others(33): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72470361 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG01433.hp2 others(1): Show |
a0001a0002a0007 | a0001c0003a0002c0002a0007c0013 | a0001c0003t0003a0002c0002t0001a0007c0013t0001 | a0001c0003t0003g0022a0002c0002t0001g0120a0002c0002t0001g0133others(1): Show | 4 | 182 | 0.0220 | 14 | c.505 others(33): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS4_chr1_161179302_161204054 | 161188883 | A | AATATATA others(7): Show |
3_prime_UTR_variant | MODIFIER | HG03688.hp1 NA18942.hp2 NA18947.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0147a0001c0001t0148a0001c0002t0010others(4): Show | a0001c0001t0147g0109a0001c0001t0148g0110a0001c0002t0010g0021others(6): Show | 12 | 374 | 0.0321 | 14 | c.*22 others(25): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 9/9 | 2254 | chr1 | TogoVar | |||||
ADAMTS6_chr5_65143738_65486920 | 65216782 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG03098.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0030a0001c0001t0001g0081a0001c0001t0001g0108others(4): Show | 7 | 204 | 0.0343 | 14 | c.227 others(33): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 18/24 | chr5 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64517416 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0041 | 1 | 286 | 0.0035 | 14 | c.*6- others(27): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 39/39 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64643445 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01243.hp1 HG02257.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0012a0003c0003t0001 | a0001c0001t0001g0095a0001c0001t0012g0013a0003c0003t0001g0059 | 3 | 286 | 0.0105 | 14 | c.171 others(33): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 11/39 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64692855 | T | TACACACA others(7): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02486.hp1 others(10): Show |
a0001a0002a0011 | a0001c0001a0001c0004a0001c0051others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(5): Show | a0001c0001t0001g0234a0001c0001t0002g0241a0001c0001t0002g0244others(10): Show | 13 | 286 | 0.0455 | 14 | c.-51 others(25): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 4856 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64692872 | A | ACACACAC others(7): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0069a0001c0009t0005g0070 | 2 | 286 | 0.0070 | 14 | c.-52 others(25): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 4873 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64692888 | A | ACACACAC others(7): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00621.hp2 HG00741.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0096others(4): Show | 8 | 286 | 0.0280 | 14 | c.-52 others(25): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 4889 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64692888 | A | ACACACAC others(7): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0219 | 1 | 286 | 0.0035 | 14 | c.-52 others(25): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 4889 | chr3 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18503421 | G | GTGTATAT others(7): Show |
intron_variant | MODIFIER | HG03471.hp2 HG03579.hp1 |
a0001a0002 | a0001c0080a0002c0079 | a0001c0080t0002a0002c0079t0003 | a0001c0080t0002g0004a0002c0079t0003g0021 | 2 | 218 | 0.0092 | 14 | c.64- others(29): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18547633 | T | TAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03486.hp1 |
a0001a0002 | a0001c0005a0002c0004 | a0001c0005t0014a0002c0004t0003 | a0001c0005t0014g0018a0002c0004t0003g0110 | 2 | 218 | 0.0092 | 14 | c.237 others(33): 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(7): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0005 | a0005c0013 | a0005c0013t0010 | a0005c0013t0010g0008 | 1 | 218 | 0.0046 | 14 | c.835 others(31): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18681697 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0020 | 1 | 218 | 0.0046 | 14 | c.134 others(31): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18688683 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0012 | a0012c0031 | a0012c0031t0003 | a0012c0031t0003g0005 | 1 | 218 | 0.0046 | 14 | c.157 others(33): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18688685 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0002 | a0002c0043 | a0002c0043t0002 | a0002c0043t0002g0159 | 1 | 218 | 0.0046 | 14 | c.157 others(33): 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(7): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0133 | 1 | 218 | 0.0046 | 14 | c.157 others(33): 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(7): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02451.hp2 HG03209.hp1 others(1): Show |
a0001a0002a0005others(1): Show | a0001c0054a0002c0053a0005c0013others(1): Show | a0001c0054t0004a0002c0053t0003a0005c0013t0003others(1): Show | a0001c0054t0004g0119a0002c0053t0003g0120a0005c0013t0003g0117others(1): Show | 4 | 218 | 0.0184 | 14 | c.157 others(33): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18703701 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00733.hp1 others(17): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0005a0001c0006others(14): Show | a0001c0002t0001a0001c0005t0002a0001c0005t0014others(15): Show | a0001c0002t0001g0076a0001c0005t0002g0022a0001c0005t0002g0149others(17): Show | 20 | 218 | 0.0917 | 14 | c.157 others(33): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18733629 | C | CCCCCCAC others(7): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG01433.hp1 others(10): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0005a0001c0006others(10): Show | a0001c0002t0001a0001c0005t0003a0001c0006t0001others(10): Show | a0001c0002t0001g0092a0001c0005t0003g0011a0001c0006t0001g0081others(10): Show | 13 | 218 | 0.0596 | 14 | c.200 others(35): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18739899 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02897.hp2 NA18906.hp1 |
a0002a0024 | a0002c0036a0002c0043a0024c0044 | a0002c0036t0001a0002c0043t0002a0024c0044t0014 | a0002c0036t0001g0136a0002c0043t0002g0159a0024c0044t0014g0123 | 3 | 218 | 0.0138 | 14 | c.200 others(35): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |