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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS20_chr12_43348866_43557203 | 43501461 | A | ACGCGCG | intron_variant | MODIFIER | HG04204.hp2 NA18942.hp1 NA19000.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102a0001c0002t0001g0111a0001c0002t0001g0112 | 3 | 306 | 0.0098 | 6 | c.867 others(21): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43501479 | G | GCACACA | intron_variant | MODIFIER | HG00741.hp2 HG02257.hp1 HG02723.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0198a0001c0002t0001g0199a0001c0002t0002g0294others(5): Show | 8 | 306 | 0.0261 | 6 | c.867 others(21): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43528348 | C | CAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(19): Show |
a0001a0003a0007 | a0001c0001a0001c0009a0003c0007others(1): Show | a0001c0001t0001a0001c0009t0001a0003c0007t0001others(1): Show | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0063others(19): Show | 22 | 306 | 0.0719 | 6 | c.613 others(23): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43553983 | C | CTTTTTT | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG01175.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(18): Show | 21 | 306 | 0.0686 | 6 | c.-20 others(17): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 1781 | chr12 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179134725 | G | GGCTCCA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(21): Show |
a0001a0002a0003others(3): Show | a0001c0018a0001c0022a0002c0007others(6): Show | a0001c0018t0002a0001c0022t0002a0002c0007t0002others(7): Show | a0001c0018t0002g0161a0001c0018t0002g0178a0001c0018t0002g0181others(21): Show | 24 | 276 | 0.0870 | 6 | c.208 others(25): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 13/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179135068 | G | GGCTCCA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(28): Show |
a0001a0002a0004others(6): Show | a0001c0014a0001c0018a0001c0022others(15): Show | a0001c0014t0002a0001c0018t0002a0001c0022t0002others(18): Show | a0001c0014t0002g0073a0001c0018t0002g0161a0001c0018t0002g0178others(28): Show | 31 | 276 | 0.1123 | 6 | c.208 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 13/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179140799 | C | CTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00558.hp2 others(49): Show |
a0001a0002a0003others(10): Show | a0001c0050a0002c0007a0002c0028others(20): Show | a0001c0050t0001a0002c0007t0002a0002c0028t0002others(25): Show | a0001c0050t0001g0177a0002c0007t0002g0097a0002c0028t0002g0110others(49): Show | 52 | 276 | 0.1884 | 6 | c.163 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 10/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179150123 | C | CTCCTGT | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02145.hp1 others(14): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0052a0001c0074others(12): Show | a0001c0001t0013a0001c0052t0002a0001c0074t0004others(13): Show | a0001c0001t0013g0021a0001c0052t0002g0148a0001c0074t0004g0062others(14): Show | 17 | 276 | 0.0616 | 6 | c.162 others(25): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 10/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179173212 | T | TTAATAA | intron_variant | MODIFIER | HG02486.hp2 NA19030.hp2 |
a0001a0029 | a0001c0001a0029c0104 | a0001c0001t0004a0029c0104t0027 | a0001c0001t0004g0064a0029c0104t0027g0221 | 2 | 276 | 0.0073 | 6 | c.975 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 5/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179189510 | G | GCTTTTT | intron_variant | MODIFIER | HG03453.hp1 NA18906.hp2 NA19240.hp1 others(1): Show |
a0001a0004 | a0001c0065a0001c0068a0004c0039others(1): Show | a0001c0065t0002a0001c0068t0001a0004c0039t0002others(1): Show | a0001c0065t0002g0118a0001c0068t0001g0023a0004c0039t0002g0204others(1): Show | 4 | 276 | 0.0145 | 6 | c.892 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179205757 | G | GTTATTA | intron_variant | MODIFIER | HG01069.hp1 HG01243.hp2 HG01884.hp2 others(15): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0065others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(13): Show | a0001c0001t0001g0066a0001c0001t0001g0115a0001c0001t0004g0064others(15): Show | 18 | 276 | 0.0652 | 6 | c.891 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179245765 | C | CAAAAAA | intron_variant | MODIFIER | HG01069.hp1 HG02486.hp2 HG02647.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0043a0003c0106others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0043t0014others(2): Show | a0001c0001t0001g0066a0001c0001t0001g0115a0001c0001t0004g0064others(3): Show | 6 | 276 | 0.0217 | 6 | c.688 others(25): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179245787 | A | AAAAAAC | intron_variant | MODIFIER | HG00639.hp1 HG01891.hp2 HG01934.hp2 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0014a0002c0012others(8): Show | a0001c0004t0004a0001c0014t0002a0002c0012t0013others(8): Show | a0001c0004t0004g0187a0001c0014t0002g0131a0002c0012t0013g0071others(8): Show | 11 | 276 | 0.0399 | 6 | c.688 others(25): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179283942 | G | GATTATT | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG00735.hp1 others(37): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0014others(22): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(29): Show | a0001c0001t0001g0011a0001c0001t0001g0069a0001c0001t0004g0111others(37): Show | 40 | 276 | 0.1449 | 6 | c.535 others(25): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179283945 | G | GATTATT | intron_variant | MODIFIER | HG03704.hp1 NA18986.hp2 NA19070.hp1 |
a0001a0002a0025 | a0001c0001a0002c0002a0025c0091 | a0001c0001t0004a0002c0002t0001a0025c0091t0002 | a0001c0001t0004g0026a0002c0002t0001g0086a0025c0091t0002g0218 | 3 | 276 | 0.0109 | 6 | c.535 others(25): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179326201 | C | CGTGTGT | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(58): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0004a0001c0022others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(32): Show | a0001c0001t0001g0011a0001c0001t0001g0083a0001c0001t0001g0100others(58): Show | 61 | 276 | 0.2210 | 6 | c.534 others(25): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179326863 | A | AGGAGAG | intron_variant | MODIFIER | HG00408.hp1 HG02145.hp2 HG03669.hp1 others(5): Show |
a0001a0002a0014others(4): Show | a0001c0046a0002c0043a0014c0038others(4): Show | a0001c0046t0002a0002c0043t0014a0014c0038t0002others(5): Show | a0001c0046t0002g0194a0002c0043t0014g0193a0014c0038t0002g0219others(5): Show | 8 | 276 | 0.0290 | 6 | c.534 others(25): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72288923 | T | TACACAC | intron_variant | MODIFIER | HG00609.hp2 HG01106.hp2 HG01891.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0099a0001c0001t0001g0108a0001c0001t0001g0112others(14): Show | 17 | 182 | 0.0934 | 6 | c.293 others(21): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 20/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72299053 | C | CTGTGTG | intron_variant | MODIFIER | HG00639.hp1 HG02004.hp2 HG02622.hp1 |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0003t0001a0002c0002t0003 | a0001c0001t0003g0024a0001c0003t0001g0168a0002c0002t0003g0058 | 3 | 182 | 0.0165 | 6 | c.242 others(23): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 17/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72340316 | A | AGTGTGT | intron_variant | MODIFIER | HG02055.hp1 HG02647.hp2 |
a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0084a0002c0009t0001g0085 | 2 | 182 | 0.0110 | 6 | c.662 others(21): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72400186 | G | GTGTGTA | intron_variant | MODIFIER | HG02630.hp2 HG03139.hp1 |
a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0017a0001c0004t0008g0018 | 2 | 182 | 0.0110 | 6 | c.661 others(25): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72470361 | T | TTATATA | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01071.hp1 others(31): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0075a0001c0001t0001g0083a0001c0001t0001g0099others(31): Show | 34 | 182 | 0.1868 | 6 | c.505 others(25): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72526568 | T | TTGTGTG | intron_variant | MODIFIER | NA18962.hp2 NA18971.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0122a0002c0002t0001g0123 | 2 | 182 | 0.0110 | 6 | c.504 others(25): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72526570 | A | ATGTGTG | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG00639.hp1 others(44): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0075a0001c0001t0001g0077a0001c0001t0001g0083others(44): Show | 47 | 182 | 0.2582 | 6 | c.504 others(25): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72530081 | T | TATTATA | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp2 HG02451.hp1 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0073a0001c0001t0001g0077a0001c0001t0001g0171others(16): Show | 19 | 182 | 0.1044 | 6 | c.504 others(25): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS4_chr1_161179302_161204054 | 161188883 | A | AATATAT | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG01243.hp1 HG01261.hp2 others(20): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0003a0003c0004others(3): Show | a0001c0002t0011a0001c0002t0189a0001c0002t0190others(13): Show | a0001c0002t0011g0007a0001c0002t0189g0166a0001c0002t0190g0174others(13): Show | 23 | 374 | 0.0615 | 6 | c.*22 others(17): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 9/9 | 2254 | chr1 | TogoVar | |||||
ADAMTS5_chr21_26912922_26972088 | 26932706 | A | AAAAAAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(86): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0032a0001c0034others(8): Show | a0001c0001t0001a0001c0001t0016a0001c0001t0027others(29): Show | a0001c0001t0001g0007a0001c0001t0001g0026a0001c0001t0001g0027others(80): Show | 89 | 398 | 0.2236 | 6 | c.187 others(23): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 5/7 | chr21 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65162620 | T | TACACAC | intron_variant | MODIFIER | HG00741.hp2 HG02258.hp2 HG02451.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0118a0001c0001t0001g0163a0001c0001t0002g0009others(16): Show | 19 | 204 | 0.0931 | 6 | c.324 others(25): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 24/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65216782 | T | TACACAC | intron_variant | MODIFIER | HG01175.hp2 HG01258.hp2 HG01261.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0028a0001c0001t0001g0178others(9): Show | 12 | 204 | 0.0588 | 6 | c.227 others(25): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 18/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65309591 | T | TACACAC | intron_variant | MODIFIER | HG01243.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168a0001c0001t0001g0169 | 2 | 204 | 0.0098 | 6 | c.122 others(25): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 9/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65313128 | A | AACACAC | intron_variant | MODIFIER | HG02615.hp2 HG03195.hp2 HG03927.hp2 others(1): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0004t0002others(1): Show | a0001c0001t0001g0176a0001c0003t0001g0052a0002c0004t0002g0159others(1): Show | 4 | 204 | 0.0196 | 6 | c.122 others(27): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 9/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65332287 | G | GTATATA | intron_variant | MODIFIER | HG01071.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0112a0001c0001t0010g0087 | 2 | 204 | 0.0098 | 6 | c.111 others(25): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 8/24 | chr5 | TogoVar | ||||||
ADAMTS7_chr15_78754206_78816464 | 78758360 | G | GCTGGGC | downstream_gene_variant | MODIFIER | NA18940.hp2 NA18946.hp1 NA18953.hp1 others(6): Show |
a0011a0058 | a0011c0011a0058c0063 | a0011c0011t0001a0058c0063t0001 | a0011c0011t0001g0198a0011c0011t0001g0207a0011c0011t0001g0211others(6): Show | 9 | 380 | 0.0237 | 6 | c.*10 others(17): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 845 | chr15 | TogoVar | ||||||
ADAMTS8_chr11_130399923_130433609 | 130415603 | C | CTTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00673.hp2 others(36): Show |
a0001a0004a0006others(4): Show | a0001c0001a0001c0025a0004c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0008a0001c0001t0001g0070a0001c0001t0001g0096others(24): Show | 39 | 424 | 0.0920 | 6 | c.126 others(23): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 4/8 | chr11 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64517416 | G | GTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00597.hp1 others(55): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0006others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(22): Show | a0001c0001t0001g0218a0001c0001t0002g0065a0001c0001t0002g0099others(55): Show | 58 | 286 | 0.2028 | 6 | c.*6- others(19): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 39/39 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64542430 | C | CTTTCTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(110): Show |
a0001a0003a0006others(7): Show | a0001c0001a0001c0004a0001c0006others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(108): Show | 113 | 286 | 0.3951 | 6 | c.506 others(23): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 32/39 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64593961 | A | ATGTGTG | intron_variant | MODIFIER | HG00544.hp1 HG02523.hp2 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105a0001c0001t0001g0125a0001c0001t0001g0163 | 3 | 286 | 0.0105 | 6 | c.435 others(23): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 28/39 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64689107 | C | CGTGTGT | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01123.hp1 HG01261.hp2 others(18): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0067a0001c0001t0002g0065a0001c0004t0001g0276others(18): Show | 21 | 286 | 0.0734 | 6 | c.-14 others(17): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 1108 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64692855 | T | TACACAC | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG00609.hp2 others(53): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0006others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0167a0001c0001t0001g0181a0001c0001t0001g0183others(53): Show | 56 | 286 | 0.1958 | 6 | c.-51 others(17): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 4856 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64692888 | A | ACACCCC | upstream_gene_variant | MODIFIER | HG02300.hp1 HG02523.hp1 HG02523.hp2 others(1): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0001t0002a0001c0014t0001 | a0001c0001t0001g0105a0001c0001t0002g0099a0001c0001t0002g0187others(1): Show | 4 | 286 | 0.0140 | 6 | c.-52 others(17): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 4889 | chr3 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18503980 | A | ATGTGTG | intron_variant | MODIFIER | HG02717.hp2 HG03471.hp2 |
a0001a0002 | a0001c0057a0002c0079 | a0001c0057t0002a0002c0079t0003 | a0001c0057t0002g0001a0002c0079t0003g0021 | 2 | 218 | 0.0092 | 6 | c.64- others(19): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18574595 | T | TTGTGTG | intron_variant | MODIFIER | HG01243.hp2 HG02976.hp1 HG03486.hp1 |
a0001 | a0001c0005a0001c0007 | a0001c0005t0004a0001c0005t0014a0001c0007t0004 | a0001c0005t0004g0020a0001c0005t0014g0018a0001c0007t0004g0017 | 3 | 218 | 0.0138 | 6 | c.474 others(21): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18582863 | T | TAAAATA | intron_variant | MODIFIER | HG01074.hp1 HG03098.hp1 NA18522.hp1 others(2): Show |
a0001a0002a0003 | a0001c0005a0002c0004a0002c0018others(1): Show | a0001c0005t0002a0002c0004t0003a0002c0018t0003others(1): Show | a0001c0005t0002g0118a0001c0005t0002g0149a0002c0004t0003g0043others(2): Show | 5 | 218 | 0.0229 | 6 | c.474 others(23): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18588884 | C | CATATAT | intron_variant | MODIFIER | HG01256.hp2 HG01358.hp2 HG02572.hp2 |
a0002a0006 | a0002c0001a0006c0014 | a0002c0001t0002a0006c0014t0003 | a0002c0001t0002g0203a0006c0014t0003g0026a0006c0014t0003g0027 | 3 | 218 | 0.0138 | 6 | c.474 others(25): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18588904 | C | CATATAT | intron_variant | MODIFIER | HG00733.hp1 HG02040.hp2 |
a0004a0014 | a0004c0015a0014c0046 | a0004c0015t0002a0014c0046t0002 | a0004c0015t0002g0201a0014c0046t0002g0202 | 2 | 218 | 0.0092 | 6 | c.474 others(25): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18621556 | C | CCACACA | intron_variant | MODIFIER | HG01168.hp2 HG01175.hp2 HG01255.hp2 others(11): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0006others(9): Show | a0001c0002t0002a0001c0002t0003a0001c0003t0002others(11): Show | a0001c0002t0002g0131a0001c0002t0003g0156a0001c0003t0002g0184others(11): Show | 14 | 218 | 0.0642 | 6 | c.475 others(21): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18626839 | T | TTCCTTC | intron_variant | MODIFIER | HG02723.hp2 HG03098.hp2 HG03486.hp2 |
a0001a0002a0029 | a0001c0005a0002c0034a0029c0081 | a0001c0005t0003a0002c0034t0003a0029c0081t0003 | a0001c0005t0003g0029a0002c0034t0003g0122a0029c0081t0003g0002 | 3 | 218 | 0.0138 | 6 | c.601 others(23): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 5/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18651910 | T | TTATATA | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00733.hp1 others(20): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0006others(16): Show | a0001c0002t0002a0001c0003t0029a0001c0006t0001others(18): Show | a0001c0002t0002g0131a0001c0003t0029g0025a0001c0006t0001g0039others(20): Show | 23 | 218 | 0.1055 | 6 | c.835 others(23): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18674198 | G | GCACACA | intron_variant | MODIFIER | HG00099.hp1 HG01081.hp1 HG03130.hp1 others(2): Show |
a0001a0002 | a0001c0003a0001c0006a0002c0001others(1): Show | a0001c0003t0029a0001c0006t0005a0002c0001t0002others(2): Show | a0001c0003t0029g0025a0001c0006t0005g0046a0002c0001t0002g0190others(2): Show | 5 | 218 | 0.0229 | 6 | c.108 others(25): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18674998 | G | GAGTAGT | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00597.hp2 others(75): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0003a0001c0005others(41): Show | a0001c0002t0001a0001c0003t0015a0001c0005t0002others(59): Show | a0001c0002t0001g0125a0001c0003t0015g0191a0001c0005t0002g0118others(75): Show | 78 | 218 | 0.3578 | 6 | c.108 others(23): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |