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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACAP2_chr3_195269745_195448020 | 195335892 | CTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(91): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(5): Show | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022others(91): Show | 94 | 324 | 0.2901 | -5 | c.573 others(22): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 7/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195402853 | CCTTTT | C | intron_variant | MODIFIER | HG02572.hp1 HG03041.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0033 | a0001c0001t0001g0260a0001c0001t0001g0262a0001c0001t0033g0261 | 3 | 324 | 0.0093 | -5 | c.54- others(22): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195419119 | ACAATT | A | intron_variant | MODIFIER | HG01884.hp2 HG03098.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0279a0001c0001t0002g0280a0001c0001t0002g0292 | 3 | 324 | 0.0093 | -5 | c.53+ others(22): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195424283 | ATTTTT | A | intron_variant | MODIFIER | HG01069.hp1 HG01123.hp2 HG01169.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0001g0257a0001c0001t0001g0258a0001c0001t0001g0266others(25): Show | 28 | 324 | 0.0864 | -5 | c.53+ others(22): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1307032 | CGAGCT | C | intron_variant | MODIFIER | HG02109.hp2 HG02970.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 3 | 295 | 0.0102 | -5 | c.47+ others(18): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 1/23 | chr1 | TogoVar | ||||||
ACAT1_chr11_108116567_108152603 | 108116915 | ATTTCT | A | upstream_gene_variant | MODIFIER | HG02572.hp1 HG02622.hp2 HG02717.hp2 others(2): Show |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0001a0002c0002t0007 | a0001c0005t0001g0159a0002c0002t0007g0055a0002c0002t0007g0056others(2): Show | 5 | 386 | 0.0130 | -5 | c.-46 others(16): Show |
ACAT1 | ENSG00000075239.14 | transcript | ENST00000265838.9 | protein_coding | 4651 | chr11 | TogoVar | ||||||
ACAT1_chr11_108116567_108152603 | 108141369 | CAAAAA | C | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG00733.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0025a0001c0001t0001g0196others(9): Show | 15 | 386 | 0.0389 | -5 | c.731 others(20): Show |
ACAT1 | ENSG00000075239.14 | transcript | ENST00000265838.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACBD3_chr1_226139679_226191741 | 226145834 | CCAAAA | C | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(146): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0001a0001c0001t0002g0013a0001c0001t0002g0014others(137): Show | 149 | 396 | 0.3763 | -5 | c.*77 others(14): Show |
ACBD3 | ENSG00000182827.9 | transcript | ENST00000366812.6 | protein_coding | 8/8 | 771 | chr1 | TogoVar | |||||
ACBD3_chr1_226139679_226191741 | 226181459 | CTACTA | C | intron_variant | MODIFIER | HG02698.hp1 HG03017.hp1 HG03834.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0135a0002c0002t0001g0136a0002c0002t0001g0137others(2): Show | 5 | 396 | 0.0126 | -5 | c.286 others(22): Show |
ACBD3 | ENSG00000182827.9 | transcript | ENST00000366812.6 | protein_coding | 1/7 | chr1 | TogoVar | ||||||
ACBD4_chr17_45130687_45149176 | 45133520 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG00673.hp1 HG01934.hp2 HG02293.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0001g0032others(6): Show | 16 | 452 | 0.0354 | -5 | c.-24 others(16): Show |
ACBD4 | ENSG00000181513.15 | transcript | ENST00000321854.13 | protein_coding | 2166 | chr17 | TogoVar | ||||||
ACBD4_chr17_45130687_45149176 | 45137899 | ACTCAT | A | splice_region_variant others(1): Show |
LOW | NA18612.hp2 NA18941.hp2 NA18951.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 5 | 452 | 0.0111 | -5 | c.574 others(16): Show |
ACBD4 | ENSG00000181513.15 | transcript | ENST00000321854.13 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ACBD6_chr1_180283230_180507577 | 180301407 | GTATGT | G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(72): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0172a0001c0001t0001g0174a0001c0001t0001g0175others(72): Show | 75 | 334 | 0.2246 | -5 | c.695 others(24): Show |
ACBD6 | ENSG00000230124.8 | transcript | ENST00000367595.4 | protein_coding | 7/7 | chr1 | TogoVar | ||||||
ACBD6_chr1_180283230_180507577 | 180347023 | AAAAAC | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(316): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(315): Show | 319 | 334 | 0.9551 | -5 | c.664 others(24): Show |
ACBD6 | ENSG00000230124.8 | transcript | ENST00000367595.4 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
ACBD6_chr1_180283230_180507577 | 180347360 | GTTTTT | G | intron_variant | MODIFIER | HG01192.hp1 HG02615.hp2 HG02647.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(11): Show | 14 | 334 | 0.0419 | -5 | c.664 others(24): Show |
ACBD6 | ENSG00000230124.8 | transcript | ENST00000367595.4 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
ACBD6_chr1_180283230_180507577 | 180350022 | CCTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(110): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0062a0001c0001t0001g0172a0001c0001t0001g0173others(110): Show | 113 | 334 | 0.3383 | -5 | c.664 others(24): Show |
ACBD6 | ENSG00000230124.8 | transcript | ENST00000367595.4 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
ACBD6_chr1_180283230_180507577 | 180392901 | CAAAAT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(101): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0172a0001c0001t0001g0173a0001c0001t0001g0174others(101): Show | 104 | 334 | 0.3114 | -5 | c.663 others(22): Show |
ACBD6 | ENSG00000230124.8 | transcript | ENST00000367595.4 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
ACBD6_chr1_180283230_180507577 | 180424354 | TTCTTA | T | intron_variant | MODIFIER | HG01099.hp2 HG02280.hp1 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(1): Show | 4 | 334 | 0.0120 | -5 | c.467 others(22): Show |
ACBD6 | ENSG00000230124.8 | transcript | ENST00000367595.4 | protein_coding | 4/7 | chr1 | TogoVar | ||||||
ACBD7_chr10_15070475_15093776 | 15071526 | GCCTTA | G | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01175.hp2 HG01884.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009a0001c0001t0039others(2): Show | a0001c0001t0007g0012a0001c0001t0007g0079a0001c0001t0007g0085others(9): Show | 17 | 426 | 0.0399 | -5 | c.*69 others(16): Show |
ACBD7 | ENSG00000176244.7 | transcript | ENST00000356189.6 | protein_coding | 3948 | chr10 | TogoVar | ||||||
ACCSL_chr11_44042981_44064977 | 44064607 | ATTTTT | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(93): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0009a0005c0007others(1): Show | a0001c0001t0001a0003c0009t0001a0005c0007t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(31): Show | 96 | 446 | 0.2153 | -5 | c.*46 others(16): Show |
ACCSL | ENSG00000205126.2 | transcript | ENST00000378832.1 | protein_coding | 4631 | chr11 | TogoVar | ||||||
ACCS_chr11_44061270_44089237 | 44064607 | ATTTTT | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp2 others(95): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0003a0002c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0017a0001c0001t0001g0021others(70): Show | 98 | 438 | 0.2237 | -5 | c.-20 others(16): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 1662 | chr11 | TogoVar | ||||||
ACER1_chr19_6301142_6338612 | 6329356 | TATAGA | T | intron_variant | MODIFIER | HG00280.hp1 HG01109.hp2 HG01361.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0028a0001c0001t0001g0125a0001c0001t0001g0159others(6): Show | 9 | 396 | 0.0227 | -5 | c.93+ others(20): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ACER1_chr19_6301142_6338612 | 6337634 | TTTTTC | T | upstream_gene_variant | MODIFIER | HG01358.hp2 HG02451.hp1 HG02615.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0031others(4): Show | 7 | 396 | 0.0177 | -5 | c.-40 others(16): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 4023 | chr19 | TogoVar | ||||||
ACER2_chr9_19404009_19457505 | 19405080 | CTTAGT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(102): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(93): Show | 105 | 358 | 0.2933 | -5 | c.-40 others(16): Show |
ACER2 | ENSG00000177076.6 | transcript | ENST00000340967.3 | protein_coding | 3928 | chr9 | TogoVar | ||||||
ACER2_chr9_19404009_19457505 | 19427642 | TTTCTC | T | intron_variant | MODIFIER | HG02615.hp2 HG02630.hp2 HG02818.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0002a0001c0003t0010a0003c0004t0004 | a0001c0001t0002g0314a0001c0003t0010g0311a0001c0003t0010g0312others(3): Show | 6 | 358 | 0.0168 | -5 | c.365 others(22): Show |
ACER2 | ENSG00000177076.6 | transcript | ENST00000340967.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ACER2_chr9_19404009_19457505 | 19428008 | TTTTCC | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00639.hp2 others(54): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0011a0001c0001t0001g0108a0001c0001t0001g0137others(49): Show | 57 | 358 | 0.1592 | -5 | c.365 others(22): Show |
ACER2 | ENSG00000177076.6 | transcript | ENST00000340967.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ACER2_chr9_19404009_19457505 | 19428776 | GTTTTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(61): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(52): Show | 64 | 358 | 0.1788 | -5 | c.365 others(22): Show |
ACER2 | ENSG00000177076.6 | transcript | ENST00000340967.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76856117 | CAAAAT | C | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02723.hp2 HG02809.hp2 others(12): Show |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0047a0002c0002t0009a0002c0002t0019others(8): Show | a0001c0005t0047g0005a0002c0002t0009g0291a0002c0002t0019g0292others(12): Show | 15 | 346 | 0.0434 | -5 | c.-48 others(16): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 4800 | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76885107 | TTTTGG | T | intron_variant | MODIFIER | HG01261.hp2 HG02145.hp2 HG02258.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0026a0001c0003t0137a0001c0003t0139others(3): Show | a0001c0003t0026g0114a0001c0003t0026g0115a0001c0003t0026g0117others(5): Show | 8 | 346 | 0.0231 | -5 | c.103 others(24): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76898687 | GAGGTC | G | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG01167.hp2 others(13): Show |
a0002 | a0002c0004 | a0002c0004t0006a0002c0004t0015a0002c0004t0087others(2): Show | a0002c0004t0006g0304a0002c0004t0006g0305a0002c0004t0006g0306others(13): Show | 16 | 346 | 0.0462 | -5 | c.104 others(24): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76924973 | CAAAAA | C | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp2 HG01891.hp1 others(31): Show |
a0001 | a0001c0003 | a0001c0003t0011a0001c0003t0016a0001c0003t0026others(18): Show | a0001c0003t0011g0101a0001c0003t0011g0103a0001c0003t0011g0104others(31): Show | 34 | 346 | 0.0983 | -5 | c.104 others(22): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76950406 | TATATA | T | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp2 HG01099.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0002g0140a0001c0001t0002g0142a0001c0001t0002g0173others(23): Show | 26 | 346 | 0.0751 | -5 | c.215 others(22): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 77024272 | CAAAAA | C | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(75): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(17): Show | a0001c0001t0002g0131a0001c0001t0002g0135a0001c0001t0002g0140others(75): Show | 78 | 346 | 0.2254 | -5 | c.*39 others(16): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 11/11 | 3970 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
ACE_chr17_63472061_63503373 | 63472612 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00544.hp1 others(122): Show |
a0001a0003a0008others(6): Show | a0001c0001a0001c0002a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(25): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(56): Show | 125 | 374 | 0.3342 | -5 | c.-44 others(16): Show |
ACE | ENSG00000159640.17 | transcript | ENST00000290866.10 | protein_coding | 4448 | chr17 | TogoVar | ||||||
ACE_chr17_63472061_63503373 | 63497085 | TTGCCC | T | intron_variant | MODIFIER | HG02622.hp1 HG02886.hp1 HG03225.hp2 others(1): Show |
a0006a0022 | a0006c0011a0022c0036 | a0006c0011t0007a0006c0011t0008a0022c0036t0008 | a0006c0011t0007g0037a0006c0011t0008g0152a0022c0036t0008g0060 | 4 | 374 | 0.0107 | -5 | c.369 others(20): Show |
ACE | ENSG00000159640.17 | transcript | ENST00000290866.10 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ACHE_chr7_100884994_100900888 | 100889724 | GCGCCC | G | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02615.hp2 others(9): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(1): Show | 12 | 414 | 0.0290 | -5 | c.*48 others(14): Show |
ACHE | ENSG00000087085.16 | transcript | ENST00000241069.11 | protein_coding | 269 | chr7 | TogoVar | ||||||
ACIN1_chr14_23053564_23100136 | 23075306 | CTCTTT | C | intron_variant | MODIFIER | HG02818.hp1 HG02886.hp2 HG03041.hp1 others(2): Show |
a0009a0010 | a0009c0015a0010c0017 | a0009c0015t0001a0010c0017t0001 | a0009c0015t0001g0301a0009c0015t0001g0302a0009c0015t0001g0303others(2): Show | 5 | 350 | 0.0143 | -5 | c.212 others(24): Show |
ACIN1 | ENSG00000100813.15 | transcript | ENST00000605057.6 | protein_coding | 8/18 | chr14 | TogoVar | ||||||
ACKR3_chr2_236564825_236587354 | 236575544 | TTGTGC | T | intron_variant | MODIFIER | HG01884.hp2 HG02559.hp1 HG02622.hp1 others(16): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0002t0005a0001c0007t0001 | a0001c0002t0001g0029a0001c0002t0001g0044a0001c0002t0001g0046others(11): Show | 19 | 394 | 0.0482 | -5 | c.-26 others(22): Show |
ACKR3 | ENSG00000144476.6 | transcript | ENST00000272928.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACLY_chr17_41861918_41923951 | 41865844 | TGTTTC | T | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064a0001c0001t0001g0086a0001c0001t0001g0107 | 3 | 294 | 0.0102 | -5 | c.*19 others(16): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 1073 | chr17 | TogoVar | ||||||
ACLY_chr17_41861918_41923951 | 41903755 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(156): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(11): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(156): Show | 159 | 294 | 0.5408 | -5 | c.106 others(22): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 10/28 | chr17 | TogoVar | ||||||
ACLY_chr17_41861918_41923951 | 41904355 | AGGAAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(258): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(17): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(258): Show | 261 | 294 | 0.8878 | -5 | c.106 others(22): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 10/28 | chr17 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134840189 | AAAAAC | A | intron_variant | MODIFIER | HG01168.hp1 HG02698.hp2 HG03490.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194a0001c0001t0001g0195a0001c0001t0001g0196others(4): Show | 7 | 382 | 0.0183 | -5 | c.57+ others(20): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
ACO1_chr9_32379643_32459769 | 32391811 | CAGATA | C | intron_variant | MODIFIER | HG02647.hp2 HG02886.hp1 HG03041.hp2 |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0038a0001c0002t0083 | a0001c0002t0008g0302a0001c0002t0038g0301a0001c0002t0083g0300 | 3 | 382 | 0.0079 | -5 | c.-23 others(22): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ACOD1_chr13_76943511_76963638 | 76944257 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00621.hp2 HG00741.hp1 HG01069.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0052others(1): Show | 16 | 434 | 0.0369 | -5 | c.-43 others(16): Show |
ACOD1 | ENSG00000102794.11 | transcript | ENST00000377462.6 | protein_coding | 4253 | chr13 | TogoVar | ||||||
ACOD1_chr13_76943511_76963638 | 76951538 | TGAATA | T | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp1 HG01109.hp2 others(17): Show |
a0002 | a0002c0003a0002c0012 | a0002c0003t0001a0002c0012t0001 | a0002c0003t0001g0012a0002c0003t0001g0016a0002c0003t0001g0021others(5): Show | 20 | 434 | 0.0461 | -5 | c.13- others(18): Show |
ACOD1 | ENSG00000102794.11 | transcript | ENST00000377462.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ACOT11_chr1_54543228_54615329 | 54554253 | GATTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(76): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0024a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0018others(76): Show | 79 | 388 | 0.2036 | -5 | c.33+ others(20): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACOT11_chr1_54543228_54615329 | 54554349 | ATATTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(43): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0002c0019others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0049others(43): Show | 46 | 388 | 0.1186 | -5 | c.33+ others(20): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACOT11_chr1_54543228_54615329 | 54554351 | ATTTTT | A | intron_variant | MODIFIER | HG00735.hp1 HG01261.hp2 HG01358.hp1 others(15): Show |
a0001a0002a0008 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0051a0001c0001t0001g0093a0001c0001t0001g0193others(15): Show | 18 | 388 | 0.0464 | -5 | c.33+ others(20): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACOT11_chr1_54543228_54615329 | 54566454 | CAAAAA | C | intron_variant | MODIFIER | HG00609.hp2 HG02145.hp2 HG02976.hp1 others(3): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0012c0021 | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(1): Show | a0001c0001t0001g0027a0001c0001t0002g0301a0001c0001t0002g0311others(3): Show | 6 | 388 | 0.0155 | -5 | c.33+ others(22): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACOT11_chr1_54543228_54615329 | 54572191 | GCCTTT | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00544.hp1 others(30): Show |
a0001a0004a0009 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0002a0001c0001t0013a0001c0006t0008others(3): Show | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0002g0006others(29): Show | 33 | 388 | 0.0851 | -5 | c.34- others(22): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACOT12_chr5_81324996_81399134 | 81358007 | CAAAAA | C | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01106.hp2 others(47): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0196a0001c0001t0002g0077a0001c0001t0002g0108others(44): Show | 50 | 278 | 0.1799 | -5 | c.496 others(22): Show |
ACOT12 | ENSG00000172497.9 | transcript | ENST00000307624.8 | protein_coding | 5/14 | chr5 | TogoVar |