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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS19_chr5_129455298_129743683 | 129658351 | A | AAGAAAGA others(15): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0083 | 1 | 226 | 0.0044 | 22 | c.230 others(39): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129658351 | A | AAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0004 | a0004c0007 | a0004c0007t0012 | a0004c0007t0012g0028 | 1 | 226 | 0.0044 | 22 | c.230 others(39): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129702939 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG02723.hp1 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0177a0001c0001t0013g0193 | 2 | 226 | 0.0089 | 22 | c.316 others(41): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129702941 | A | AAAAAATA others(15): Show |
intron_variant | MODIFIER | HG02451.hp2 NA19000.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0042a0001c0003t0001g0213 | 2 | 226 | 0.0089 | 22 | c.316 others(41): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129702941 | A | AAAATATA others(15): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 226 | 0.0044 | 22 | c.316 others(41): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129702941 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 226 | 0.0044 | 22 | c.316 others(41): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS20_chr12_43348866_43557203 | 43420800 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02257.hp1 NA18522.hp1 NA19030.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0198a0001c0002t0002g0297a0001c0002t0002g0298 | 3 | 306 | 0.0098 | 22 | c.428 others(41): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 306 | 0.0033 | 22 | c.161 others(41): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43501479 | G | GCACACAC others(15): Show |
intron_variant | MODIFIER | HG03471.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0019 | 2 | 306 | 0.0065 | 22 | c.867 others(37): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43501481 | G | GCACACAC others(15): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02055.hp2 HG02071.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179a0001c0001t0001g0226a0001c0001t0001g0227others(2): Show | 5 | 306 | 0.0163 | 22 | c.867 others(37): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43501481 | G | GCGCACAC others(15): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 306 | 0.0033 | 22 | c.867 others(37): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43501481 | G | GCGCGCAC others(15): Show |
intron_variant | MODIFIER | NA18952.hp1 NA18971.hp1 NA18986.hp1 others(2): Show |
a0001a0013 | a0001c0001a0013c0018 | a0001c0001t0001a0013c0018t0001 | a0001c0001t0001g0028a0001c0001t0001g0220a0001c0001t0001g0235others(2): Show | 5 | 306 | 0.0163 | 22 | c.867 others(37): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43501481 | G | GCGCGCGC others(15): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02809.hp1 NA18984.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0077a0001c0001t0001g0222a0001c0009t0001g0192 | 3 | 306 | 0.0098 | 22 | c.867 others(37): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179278050 | C | CACCCCCC others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp2 others(97): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0004a0001c0014others(48): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(66): Show | a0001c0001t0001g0009a0001c0001t0001g0054a0001c0001t0001g0067others(97): Show | 100 | 276 | 0.3623 | 22 | c.535 others(39): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179278050 | C | CACCCCCC others(15): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0013 | 1 | 276 | 0.0036 | 22 | c.535 others(39): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179278050 | C | CACTCCCC others(15): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0027 | a0027c0094 | a0027c0094t0003 | a0027c0094t0003g0266 | 1 | 276 | 0.0036 | 22 | c.535 others(39): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179278050 | C | CCTCCCCG others(15): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 276 | 0.0036 | 22 | c.535 others(39): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179299530 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG03579.hp1 HG04204.hp1 |
a0002a0006 | a0002c0012a0006c0009 | a0002c0012t0013a0006c0009t0003 | a0002c0012t0013g0071a0006c0009t0003g0078 | 2 | 276 | 0.0073 | 22 | c.535 others(41): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72529971 | A | ATATACAT others(15): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 182 | 0.0055 | 22 | c.504 others(41): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72529971 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02965.hp2 HG06807.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0001t0005a0001c0006t0005 | a0001c0001t0003g0021a0001c0001t0005g0009a0001c0006t0005g0007 | 3 | 182 | 0.0165 | 22 | c.504 others(41): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS4_chr1_161179302_161204054 | 161188883 | A | AATATATA others(15): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp2 HG01069.hp2 HG01361.hp1 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0010others(3): Show | a0001c0001t0007a0001c0001t0026a0001c0001t0027others(20): Show | a0001c0001t0007g0016a0001c0001t0026g0015a0001c0001t0027g0017others(20): Show | 31 | 374 | 0.0829 | 22 | c.*22 others(33): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 9/9 | 2254 | chr1 | TogoVar | |||||
ADAMTS4_chr1_161179302_161204054 | 161188891 | T | TATATATA others(15): Show |
3_prime_UTR_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0162 | a0001c0001t0162g0122 | 1 | 374 | 0.0027 | 22 | c.*22 others(33): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 9/9 | 2246 | chr1 | TogoVar | |||||
ADAMTS6_chr5_65143738_65486920 | 65230729 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA20129.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0121a0001c0001t0002g0183 | 2 | 204 | 0.0098 | 22 | c.193 others(41): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65260277 | A | AATAAGAT others(15): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03579.hp2 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0159a0002c0004t0002g0161 | 2 | 204 | 0.0098 | 22 | c.183 others(39): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 14/24 | chr5 | TogoVar | ||||||
ADAMTS8_chr11_130399923_130433609 | 130431459 | T | TTGGCTAT others(15): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 HG02135.hp2 HG02630.hp1 others(5): Show |
a0002a0003a0022others(2): Show | a0002c0004a0003c0002a0022c0046others(2): Show | a0002c0004t0002a0003c0002t0002a0022c0046t0002others(2): Show | a0002c0004t0002g0192a0002c0004t0002g0194a0002c0004t0002g0195others(5): Show | 8 | 424 | 0.0189 | 22 | c.-31 others(33): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 2851 | chr11 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64517416 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113a0001c0001t0001g0232 | 2 | 286 | 0.0070 | 22 | c.*6- others(35): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 39/39 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64692855 | T | TACACACA others(15): Show |
upstream_gene_variant | MODIFIER | NA18983.hp2 NA18991.hp2 |
a0001a0020 | a0001c0001a0020c0034 | a0001c0001t0001a0020c0034t0001 | a0001c0001t0001g0139a0020c0034t0001g0140 | 2 | 286 | 0.0070 | 22 | c.-51 others(33): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 4856 | chr3 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18503419 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02897.hp2 |
a0002a0005 | a0002c0043a0005c0013 | a0002c0043t0002a0005c0013t0019 | a0002c0043t0002g0159a0005c0013t0019g0158 | 2 | 218 | 0.0092 | 22 | c.64- others(37): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18503421 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0009 | 1 | 218 | 0.0046 | 22 | c.64- others(37): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18503421 | G | GTGTATAT others(15): Show |
intron_variant | MODIFIER | HG02129.hp2 NA18944.hp2 NA18964.hp2 others(1): Show |
a0001a0003 | a0001c0005a0001c0007a0001c0023others(1): Show | a0001c0005t0004a0001c0007t0004a0001c0023t0003others(1): Show | a0001c0005t0004g0167a0001c0007t0004g0171a0001c0023t0003g0186others(1): Show | 4 | 218 | 0.0184 | 22 | c.64- others(37): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18588884 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG01168.hp2 HG03239.hp2 |
a0001a0004 | a0001c0006a0004c0048 | a0001c0006t0001a0004c0048t0004 | a0001c0006t0001g0039a0004c0048t0004g0141 | 2 | 218 | 0.0092 | 22 | c.474 others(41): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0027 | a0001c0027t0001 | a0001c0027t0001g0111 | 1 | 218 | 0.0046 | 22 | c.157 others(41): 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(15): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0003 | a0003c0019 | a0003c0019t0002 | a0003c0019t0002g0090 | 1 | 218 | 0.0046 | 22 | c.157 others(41): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18703701 | C | CATACATA others(15): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02451.hp2 NA19240.hp2 |
a0001a0002a0028 | a0001c0054a0002c0053a0028c0082 | a0001c0054t0004a0002c0053t0003a0028c0082t0004 | a0001c0054t0004g0119a0002c0053t0003g0120a0028c0082t0004g0003 | 3 | 218 | 0.0138 | 22 | c.157 others(41): 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(15): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00738.hp1 HG01081.hp2 others(15): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0005a0001c0006others(11): Show | a0001c0002t0002a0001c0002t0008a0001c0005t0002others(13): Show | a0001c0002t0002g0131a0001c0002t0008g0089a0001c0005t0002g0009others(15): Show | 18 | 218 | 0.0826 | 22 | c.157 others(41): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18756076 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG02572.hp2 |
a0001a0002 | a0001c0002a0001c0027a0002c0001 | a0001c0002t0001a0001c0027t0001a0002c0001t0002 | a0001c0002t0001g0076a0001c0027t0001g0033a0002c0001t0002g0203 | 3 | 218 | 0.0138 | 22 | c.221 others(41): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18756118 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0011 | 1 | 218 | 0.0046 | 22 | c.221 others(41): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18853918 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG01934.hp2 HG01975.hp2 HG02074.hp2 others(2): Show |
a0001a0002a0023 | a0001c0026a0001c0042a0002c0016others(2): Show | a0001c0026t0003a0001c0042t0003a0002c0016t0002others(2): Show | a0001c0026t0003g0103a0001c0042t0003g0194a0002c0016t0002g0151others(2): Show | 5 | 218 | 0.0229 | 22 | c.424 others(43): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18866116 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0080 | a0001c0080t0002 | a0001c0080t0002g0004 | 1 | 218 | 0.0046 | 22 | c.425 others(43): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18876301 | C | CGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG00438.hp2 NA19009.hp2 NA21309.hp1 |
a0001a0005 | a0001c0002a0001c0069a0005c0060 | a0001c0002t0002a0001c0069t0004a0005c0060t0001 | a0001c0002t0002g0108a0001c0069t0004g0054a0005c0060t0001g0048 | 3 | 218 | 0.0138 | 22 | c.425 others(43): 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(15): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp1 others(34): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0057a0002c0008others(7): Show | a0001c0001t0001a0001c0057t0001a0002c0008t0001others(7): Show | a0001c0001t0001g0076a0001c0001t0001g0189a0001c0001t0001g0190others(34): Show | 37 | 274 | 0.1350 | 22 | c.69+ others(39): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83714785 | T | TTCTTTCT others(15): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(16): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0002a0002c0020others(7): Show | a0001c0001t0001a0002c0002t0001a0002c0020t0001others(7): Show | a0001c0001t0001g0067a0001c0001t0001g0070a0001c0001t0001g0264others(16): Show | 19 | 274 | 0.0693 | 22 | c.189 others(41): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83801651 | A | AATATAAA others(15): Show |
intron_variant | MODIFIER | HG02451.hp2 NA18950.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0078a0003c0003t0001g0148 | 2 | 274 | 0.0073 | 22 | c.318 others(39): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83801651 | A | AATATAAA others(15): Show |
intron_variant | MODIFIER | HG01516.hp1 HG03669.hp1 NA18939.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0156a0002c0002t0001g0140a0003c0003t0001g0098others(2): Show | 5 | 274 | 0.0183 | 22 | c.318 others(39): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83801651 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0123 | 1 | 274 | 0.0037 | 22 | c.318 others(39): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83872627 | C | CACACACA others(15): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG01175.hp1 others(7): Show |
a0001a0002a0005others(1): Show | a0001c0058a0002c0008a0002c0054others(2): Show | a0001c0058t0001a0002c0008t0001a0002c0054t0001others(2): Show | a0001c0058t0001g0031a0002c0008t0001g0239a0002c0008t0001g0241others(7): Show | 10 | 274 | 0.0365 | 22 | c.960 others(39): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83872627 | C | CACACACA others(15): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0010 | a0010c0012 | a0010c0012t0007 | a0010c0012t0007g0071 | 1 | 274 | 0.0037 | 22 | c.960 others(39): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADARB1_chr21_45069580_45231560 | 45073982 | T | TGGCTCGG others(15): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0077 | a0001c0002t0077g0221 | 1 | 350 | 0.0029 | 22 | c.-10 others(33): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 597 | chr21 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1240200 | C | CCCTCTGC others(15): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0004 | 1 | 106 | 0.0094 | 22 | c.136 others(41): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1514178 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02602.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0061a0002c0002t0005a0002c0002t0063 | a0001c0001t0061g0087a0002c0002t0005g0022a0002c0002t0005g0028others(1): Show | 4 | 106 | 0.0377 | 22 | c.101 others(43): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar |