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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCC4_chr13_95014835_95306451 | 95220185 | AATATT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(162): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0003others(45): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(76): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0064others(162): Show | 165 | 248 | 0.6653 | -5 | c.532 others(22): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 4/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95250757 | CTTTTT | C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp2 others(116): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(40): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(63): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0144others(116): Show | 119 | 248 | 0.4798 | -5 | c.75- others(20): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95264864 | CTTTTT | C | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp2 HG01975.hp2 others(21): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0009others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(14): Show | a0001c0001t0001g0046a0001c0001t0001g0063a0001c0001t0001g0144others(21): Show | 24 | 248 | 0.0968 | -5 | c.75- others(22): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | ||||||
ABCC5_chr3_183914934_184022884 | 183916420 | ATTTTT | A | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01257.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0007a0001c0001t0006g0002a0001c0001t0006g0015others(7): Show | 11 | 378 | 0.0291 | -5 | c.*48 others(16): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 3513 | chr3 | TogoVar | ||||||
ABCC5_chr3_183914934_184022884 | 183970439 | CTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp1 others(109): Show |
a0001a0002a0005others(2): Show | a0001c0002a0001c0013a0001c0023others(4): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0009others(7): Show | a0001c0002t0001g0001a0001c0002t0001g0003a0001c0002t0001g0004others(105): Show | 112 | 378 | 0.2963 | -5 | c.176 others(24): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 11/29 | chr3 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16147227 | TTTTTG | T | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01256.hp1 HG01361.hp1 others(8): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0013a0002c0051others(2): Show | a0001c0001t0001a0002c0013t0001a0002c0051t0001others(2): Show | a0001c0001t0001g0239a0001c0001t0001g0273a0001c0001t0001g0341others(8): Show | 11 | 357 | 0.0308 | -5 | c.*29 others(16): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 2337 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16160628 | CAAAAA | C | intron_variant | MODIFIER | HG01346.hp1 HG01516.hp2 HG01884.hp2 others(16): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0026a0002c0003others(7): Show | a0001c0001t0001a0001c0026t0001a0002c0003t0001others(7): Show | a0001c0001t0001g0339a0001c0026t0001g0272a0002c0003t0001g0013others(16): Show | 19 | 357 | 0.0532 | -5 | c.363 others(22): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 25/30 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16170941 | AGAAAG | A | intron_variant | MODIFIER | HG00673.hp2 HG01496.hp1 HG01978.hp2 others(8): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0006a0002c0013others(6): Show | a0001c0002t0001a0001c0006t0001a0002c0013t0001others(6): Show | a0001c0002t0001g0026a0001c0002t0001g0085a0001c0002t0001g0332others(8): Show | 11 | 357 | 0.0308 | -5 | c.278 others(24): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16191642 | CCTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(259): Show |
a0001a0002a0003others(33): Show | a0001c0001a0001c0002a0001c0004others(60): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(71): Show | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(258): Show | 262 | 357 | 0.7339 | -5 | c.143 others(24): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 11/30 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16195303 | ATTTTT | A | intron_variant | MODIFIER | HG01928.hp1 HG02572.hp2 HG02723.hp2 others(5): Show |
a0001a0030 | a0001c0001a0001c0002a0001c0065others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0001g0191a0001c0001t0001g0335a0001c0001t0004g0223others(5): Show | 8 | 357 | 0.0224 | -5 | c.133 others(24): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 10/30 | chr16 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17389839 | TAAAAA | T | downstream_gene_variant | MODIFIER | HG00673.hp2 HG02080.hp1 HG02257.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0013others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0013t0001others(3): Show | a0001c0001t0001g0074a0001c0001t0001g0215a0001c0001t0001g0249others(10): Show | 13 | 330 | 0.0394 | -5 | c.*31 others(16): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 3045 | chr11 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17450335 | TCTTTC | T | intron_variant | MODIFIER | HG00408.hp1 HG01169.hp2 HG01261.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0059others(7): Show | 10 | 330 | 0.0303 | -5 | c.117 others(24): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 7/38 | chr11 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21821130 | ACTTTT | A | intron_variant | MODIFIER | HG02965.hp1 HG03486.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0002t0023 | a0001c0001t0019g0196a0001c0002t0023g0182 | 2 | 212 | 0.0094 | -5 | c.367 others(24): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 31/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21824875 | TTTCTC | T | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011 | a0001c0001t0005g0067a0001c0001t0011g0068a0001c0001t0011g0120 | 3 | 212 | 0.0142 | -5 | c.366 others(24): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 31/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21841342 | GTTTCC | G | intron_variant | MODIFIER | HG01496.hp1 HG02559.hp2 HG02976.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0007 | a0001c0001t0001a0001c0003t0007a0002c0007t0001 | a0001c0001t0001g0157a0001c0003t0007g0180a0001c0003t0007g0204others(2): Show | 5 | 212 | 0.0236 | -5 | c.347 others(22): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 29/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21844293 | CTGAGT | C | intron_variant | MODIFIER | HG02647.hp2 HG02965.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0023a0001c0006t0005 | a0001c0002t0023g0182a0001c0006t0005g0192 | 2 | 212 | 0.0094 | -5 | c.331 others(22): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 28/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21875074 | AAAAAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(79): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(79): Show | 82 | 212 | 0.3868 | -5 | c.209 others(22): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 17/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21892245 | GACACC | G | intron_variant | MODIFIER | HG01346.hp2 HG02735.hp1 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0041a0001c0001t0001g0053 | 3 | 212 | 0.0142 | -5 | c.180 others(24): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 14/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21928430 | AAAAAG | A | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02257.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0036others(9): Show | 12 | 212 | 0.0566 | -5 | c.285 others(22): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 4/39 | chr12 | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153720910 | AAGAAG | A | upstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0093 | 1 | 285 | 0.0035 | -5 | c.-43 others(16): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 3945 | chrX | TogoVar | ||||||
ABCD2_chr12_39545033_39624803 | 39551930 | GTTAAC | G | 3_prime_UTR_variant | MODIFIER | NA18939.hp2 NA18950.hp2 NA18957.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0012a0001c0001t0019a0004c0004t0012 | a0001c0001t0012g0142a0001c0001t0019g0139a0004c0004t0012g0017 | 4 | 340 | 0.0118 | -5 | c.*19 others(16): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 10/10 | 1977 | chr12 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94456255 | ATTTTT | A | intron_variant | MODIFIER | HG00423.hp2 HG00741.hp1 HG01106.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(5): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0037others(26): Show | 29 | 362 | 0.0801 | -5 | c.111 others(22): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94480051 | TGAGAA | T | intron_variant | MODIFIER | HG02486.hp1 HG03225.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0024 | a0001c0001t0014g0189a0001c0001t0014g0191a0001c0001t0024g0190 | 3 | 362 | 0.0083 | -5 | c.685 others(20): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94489667 | TAAAAG | T | intron_variant | MODIFIER | HG02040.hp2 HG02155.hp1 HG02165.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0221a0001c0001t0005g0222a0001c0001t0005g0224others(6): Show | 9 | 362 | 0.0249 | -5 | c.115 others(20): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD4_chr14_74280269_74307934 | 74305330 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG02129.hp2 NA18948.hp2 NA18995.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004a0002c0002t0001g0074a0002c0002t0001g0077others(1): Show | 8 | 384 | 0.0208 | -5 | c.-24 others(16): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 2397 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74306157 | TATATA | T | upstream_gene_variant | MODIFIER | HG01192.hp2 HG03041.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0010a0001c0001t0002g0121others(1): Show | 5 | 384 | 0.0130 | -5 | c.-32 others(16): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3224 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74306159 | TATATA | T | upstream_gene_variant | MODIFIER | HG02015.hp2 NA18939.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0038a0001c0001t0002g0104 | 3 | 384 | 0.0078 | -5 | c.-32 others(16): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3226 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74306167 | TATATA | T | upstream_gene_variant | MODIFIER | HG01516.hp1 HG01981.hp2 HG03654.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004a0002c0002t0001g0052a0002c0002t0001g0087 | 3 | 384 | 0.0078 | -5 | c.-32 others(16): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3234 | chr14 | TogoVar | ||||||
ABCE1_chr4_145093311_145134524 | 145095666 | CAATAT | C | upstream_gene_variant | MODIFIER | HG02818.hp1 HG06807.hp2 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0130a0001c0004t0004g0131 | 2 | 260 | 0.0077 | -5 | c.-27 others(16): Show |
ABCE1 | ENSG00000164163.11 | transcript | ENST00000296577.9 | protein_coding | 2644 | chr4 | TogoVar | ||||||
ABCF1_chr6_30566442_30596522 | 30576075 | TAAAAA | T | intron_variant | MODIFIER | HG00639.hp2 HG02280.hp1 HG02451.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0206a0001c0001t0001g0207 | 7 | 415 | 0.0169 | -5 | c.74- others(20): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ABCF1_chr6_30566442_30596522 | 30587867 | TAAGTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(286): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0004a0004c0006others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(178): Show | 289 | 415 | 0.6964 | -5 | c.203 others(24): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ABCF3_chr3_184181199_184199005 | 184187217 | AGTTTT | A | intron_variant | MODIFIER | HG00639.hp1 NA18955.hp1 NA18967.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0038a0001c0001t0001g0057 | 6 | 416 | 0.0144 | -5 | c.302 others(20): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABCG2_chr4_88085269_88163639 | 88108151 | GTTAAT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(344): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0015others(338): Show | 347 | 350 | 0.9914 | -5 | c.119 others(22): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 9/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88137012 | CAATAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp1 HG01884.hp2 others(32): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0011 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0110a0001c0001t0001g0158a0001c0001t0001g0189others(31): Show | 35 | 350 | 0.1000 | -5 | c.203 others(22): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 2/15 | chr4 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43813708 | CGTTTT | C | intron_variant | MODIFIER | HG00738.hp1 HG01261.hp2 HG02132.hp2 others(9): Show |
a0001a0009 | a0001c0001a0001c0010a0009c0018 | a0001c0001t0004a0001c0010t0004a0009c0018t0004 | a0001c0001t0004g0019a0001c0001t0004g0060a0001c0001t0004g0096others(8): Show | 12 | 330 | 0.0364 | -5 | c.176 others(22): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 12/12 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43828991 | CAAATA | C | intron_variant | MODIFIER | HG02559.hp1 HG02896.hp2 HG02897.hp2 others(4): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0008 | a0001c0001t0003a0002c0002t0002a0008c0008t0002 | a0001c0001t0003g0010a0002c0002t0002g0009a0002c0002t0002g0043others(2): Show | 7 | 330 | 0.0212 | -5 | c.502 others(20): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 4/12 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43839403 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01884.hp1 others(14): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0003a0001c0001t0005a0002c0002t0002others(3): Show | a0001c0001t0003g0010a0001c0001t0003g0059a0001c0001t0003g0077others(13): Show | 17 | 330 | 0.0515 | -5 | c.-72 others(14): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 565 | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43839403 | CTTTTT | C | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01884.hp1 others(13): Show |
a0002a0003a0008 | a0002c0003a0002c0004a0003c0002others(2): Show | a0002c0003t0012a0002c0003t0107a0002c0003t0111others(9): Show | a0002c0003t0012g0177a0002c0003t0107g0171a0002c0003t0111g0178others(12): Show | 16 | 318 | 0.0503 | -5 | c.63+ others(18): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43885063 | GTTTTT | G | downstream_gene_variant | MODIFIER | HG02647.hp2 HG02965.hp1 HG02976.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0002others(2): Show | a0001c0001t0064a0002c0003t0012a0003c0002t0101others(3): Show | a0001c0001t0064g0133a0002c0003t0012g0147a0002c0003t0012g0177others(5): Show | 10 | 318 | 0.0315 | -5 | c.*71 others(16): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 2076 | chr2 | TogoVar | ||||||
ABHD10_chr3_111974026_111998368 | 111977353 | GATGAA | G | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01175.hp2 HG01243.hp1 others(5): Show |
a0001a0005 | a0001c0001a0001c0006a0005c0009 | a0001c0001t0003a0001c0006t0003a0005c0009t0003 | a0001c0001t0003g0009a0001c0006t0003g0009a0005c0009t0003g0009 | 8 | 424 | 0.0189 | -5 | c.-17 others(16): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 1672 | chr3 | TogoVar | ||||||
ABHD10_chr3_111974026_111998368 | 111981329 | AAAAAG | A | intron_variant | MODIFIER | HG01192.hp1 HG02109.hp1 HG02559.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 9 | 424 | 0.0212 | -5 | c.143 others(20): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD10_chr3_111974026_111998368 | 111992229 | TATATA | T | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG01175.hp2 HG01243.hp1 others(6): Show |
a0001a0005 | a0001c0001a0001c0006a0005c0009 | a0001c0001t0003a0001c0006t0003a0005c0009t0003 | a0001c0001t0003g0003a0001c0001t0003g0009a0001c0006t0003g0009others(1): Show | 9 | 424 | 0.0212 | -5 | c.*51 others(14): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 5/5 | 519 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
ABHD10_chr3_111974026_111998368 | 111996313 | CCTACT | C | downstream_gene_variant | MODIFIER | HG02273.hp1 NA18941.hp2 NA18954.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0086 | 3 | 424 | 0.0071 | -5 | c.*45 others(16): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 2946 | chr3 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50884702 | CTTTTT | C | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02622.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0006 | a0002c0002t0005g0022a0002c0002t0005g0153a0002c0002t0005g0170others(4): Show | 7 | 376 | 0.0186 | -5 | c.487 others(20): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12_chr20_25295214_25395835 | 25313578 | AAAAAT | A | intron_variant | MODIFIER | HG00544.hp2 HG02145.hp2 HG02559.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(1): Show | a0001c0001t0001g0082a0001c0001t0004g0291a0001c0002t0002g0165others(4): Show | 7 | 316 | 0.0222 | -5 | c.619 others(22): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 6/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25359423 | CAAAAA | C | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG02055.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0006 | a0001c0003t0002g0232a0001c0003t0002g0240a0001c0003t0002g0270others(3): Show | 6 | 316 | 0.0190 | -5 | c.192 others(24): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25369927 | TAAAAA | T | intron_variant | MODIFIER | HG00544.hp1 HG01255.hp1 HG01496.hp1 others(27): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0226a0001c0003t0002g0227a0001c0003t0002g0228others(27): Show | 30 | 316 | 0.0949 | -5 | c.191 others(24): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25382999 | GGCCCA | G | intron_variant | MODIFIER | HG02145.hp1 HG02717.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0287a0001c0001t0004g0288a0001c0001t0004g0289 | 3 | 316 | 0.0095 | -5 | c.191 others(22): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25390476 | GGCCCC | G | intron_variant | MODIFIER | HG00544.hp1 HG01496.hp1 HG01981.hp1 others(15): Show |
a0001a0005 | a0001c0003a0005c0008 | a0001c0003t0002a0001c0003t0006a0005c0008t0002 | a0001c0003t0002g0247a0001c0003t0002g0249a0001c0003t0002g0252others(15): Show | 18 | 316 | 0.0570 | -5 | c.191 others(18): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD13_chr13_108213392_108239243 | 108234020 | ATAAGT | A | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG00738.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0036 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0089others(2): Show | 35 | 390 | 0.0897 | -5 | c.*37 others(16): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2/2 | 3792 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |