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 | 195294608 | A | AAAAATAT others(4): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0004 | 1 | 324 | 0.0031 | 11 | c.176 others(28): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 18/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195372987 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0147a0001c0001t0007g0148 | 2 | 324 | 0.0062 | 11 | c.285 others(28): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 4/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195377138 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG00673.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0033others(2): Show | a0001c0001t0001g0023a0001c0001t0001g0211a0001c0001t0001g0212others(30): Show | 33 | 324 | 0.1019 | 11 | c.285 others(28): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 4/22 | chr3 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289434 | C | CGTGTCTC others(4): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 295 | 0.0034 | 11 | c.*41 others(22): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2956 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1308546 | C | CGGGGGGG others(4): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0170 | 2 | 295 | 0.0068 | 11 | c.-73 others(20): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 617 | chr1 | TogoVar | ||||||
ACAT1_chr11_108116567_108152603 | 108131354 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03927.hp1 NA19012.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0083a0001c0001t0001g0189a0001c0003t0003g0176 | 3 | 386 | 0.0078 | 11 | c.73- others(24): Show |
ACAT1 | ENSG00000075239.14 | transcript | ENST00000265838.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACAT1_chr11_108116567_108152603 | 108141369 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00733.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109a0001c0001t0001g0124 | 2 | 386 | 0.0052 | 11 | c.731 others(26): Show |
ACAT1 | ENSG00000075239.14 | transcript | ENST00000265838.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACAT1_chr11_108116567_108152603 | 108151631 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0163 | 1 | 386 | 0.0026 | 11 | c.*42 others(22): Show |
ACAT1 | ENSG00000075239.14 | transcript | ENST00000265838.9 | protein_coding | 4029 | chr11 | TogoVar | ||||||
ACBD3_chr1_226139679_226191741 | 226149529 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01258.hp2 HG02109.hp2 HG02148.hp1 others(9): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0001a0002c0002t0008a0002c0002t0012others(1): Show | a0002c0002t0001g0136a0002c0002t0001g0141a0002c0002t0001g0144others(9): Show | 12 | 396 | 0.0303 | 11 | c.137 others(30): Show |
ACBD3 | ENSG00000182827.9 | transcript | ENST00000366812.6 | protein_coding | 7/7 | chr1 | TogoVar | ||||||
ACBD3_chr1_226139679_226191741 | 226172155 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(134): Show |
a0002a0005 | a0002c0002a0002c0009a0005c0005 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(3): Show | a0002c0002t0001g0007a0002c0002t0001g0008a0002c0002t0001g0009others(129): Show | 137 | 396 | 0.3460 | 11 | c.287 others(28): Show |
ACBD3 | ENSG00000182827.9 | transcript | ENST00000366812.6 | protein_coding | 1/7 | chr1 | TogoVar | ||||||
ACBD3_chr1_226139679_226191741 | 226178574 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02080.hp1 NA19030.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0197a0002c0002t0001g0198 | 2 | 396 | 0.0051 | 11 | c.286 others(28): Show |
ACBD3 | ENSG00000182827.9 | transcript | ENST00000366812.6 | protein_coding | 1/7 | chr1 | TogoVar | ||||||
ACBD5_chr10_27190214_27245797 | 27228815 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0187 | 1 | 384 | 0.0026 | 11 | c.375 others(28): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 4/12 | chr10 | TogoVar | ||||||
ACBD5_chr10_27190214_27245797 | 27228816 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG01109.hp2 NA18612.hp2 NA18906.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0001 | a0001c0001t0002g0085a0002c0004t0001g0176a0002c0004t0001g0205 | 3 | 384 | 0.0078 | 11 | c.375 others(28): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 4/12 | chr10 | TogoVar | ||||||
ACBD6_chr1_180283230_180507577 | 180359696 | G | GTCCATCC others(4): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(316): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(315): Show | 319 | 334 | 0.9551 | 11 | c.663 others(30): Show |
ACBD6 | ENSG00000230124.8 | transcript | ENST00000367595.4 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
ACBD6_chr1_180283230_180507577 | 180477978 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01243.hp1 HG01346.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282a0001c0001t0002g0284a0001c0001t0002g0285others(36): Show | 39 | 334 | 0.1168 | 11 | c.384 others(30): Show |
ACBD6 | ENSG00000230124.8 | transcript | ENST00000367595.4 | protein_coding | 3/7 | chr1 | TogoVar | ||||||
ACBD6_chr1_180283230_180507577 | 180502499 | T | TCCTCCGG others(4): Show |
5_prime_UTR_variant | MODIFIER | HG02572.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0277a0001c0001t0003g0278 | 2 | 334 | 0.0060 | 11 | c.-24 others(20): Show |
ACBD6 | ENSG00000230124.8 | transcript | ENST00000367595.4 | protein_coding | 1/8 | 234 | chr1 | TogoVar | |||||
ACBD7_chr10_15070475_15093776 | 15089675 | G | GACCCCAC others(4): Show |
upstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 426 | 0.0024 | 11 | c.-94 others(20): Show |
ACBD7 | ENSG00000176244.7 | transcript | ENST00000356189.6 | protein_coding | 900 | chr10 | TogoVar | ||||||
ACCSL_chr11_44042981_44064977 | 44060510 | C | CCTGCTAA others(4): Show |
downstream_gene_variant | MODIFIER | NA19078.hp1 | a0007 | a0007c0014 | a0007c0014t0001 | a0007c0014t0001g0062 | 1 | 446 | 0.0022 | 11 | c.*59 others(20): Show |
ACCSL | ENSG00000205126.2 | transcript | ENST00000378832.1 | protein_coding | 534 | chr11 | TogoVar | ||||||
ACER1_chr19_6301142_6338612 | 6335906 | C | CTTTTCTT others(4): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0343 | 1 | 396 | 0.0025 | 11 | c.-23 others(22): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 2295 | chr19 | TogoVar | ||||||
ACER2_chr9_19404009_19457505 | 19439344 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01515.hp2 HG01517.hp2 others(11): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0010a0001c0001t0001g0019a0001c0001t0001g0029others(10): Show | 14 | 358 | 0.0391 | 11 | c.503 others(28): Show |
ACER2 | ENSG00000177076.6 | transcript | ENST00000340967.3 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76859314 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 NA18906.hp1 |
a0001 | a0001c0003 | a0001c0003t0011a0001c0003t0016 | a0001c0003t0011g0106a0001c0003t0016g0108 | 2 | 346 | 0.0058 | 11 | c.-16 others(22): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1603 | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76924973 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0189 | 1 | 346 | 0.0029 | 11 | c.104 others(28): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76924989 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0183 | 1 | 346 | 0.0029 | 11 | c.104 others(28): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76938970 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01081.hp1 NA19057.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0064 | a0001c0001t0002g0170a0001c0007t0064g0126 | 2 | 346 | 0.0058 | 11 | c.214 others(30): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 77024272 | C | CAAAAAAA others(4): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00673.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0018a0001c0001t0031others(5): Show | a0001c0001t0003g0020a0001c0001t0003g0021a0001c0001t0003g0023others(26): Show | 29 | 346 | 0.0838 | 11 | c.*39 others(22): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 11/11 | 3975 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
ACKR2_chr3_42804445_42872286 | 42828092 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0159 | 1 | 342 | 0.0029 | 11 | c.-38 others(28): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACKR2_chr3_42804445_42872286 | 42828092 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0129 | 1 | 342 | 0.0029 | 11 | c.-38 others(28): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACKR2_chr3_42804445_42872286 | 42860164 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01123.hp2 HG01361.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0025others(21): Show | 26 | 342 | 0.0760 | 11 | c.-37 others(28): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACLY_chr17_41861918_41923951 | 41879647 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18951.hp1 NA18951.hp2 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0083a0001c0001t0001g0129a0001c0001t0007g0002 | 3 | 294 | 0.0102 | 11 | c.226 others(28): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 20/28 | chr17 | TogoVar | ||||||
ACLY_chr17_41861918_41923951 | 41882367 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01192.hp1 HG01192.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0067a0001c0001t0001g0081others(17): Show | 20 | 294 | 0.0680 | 11 | c.226 others(28): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 20/28 | chr17 | TogoVar | ||||||
ACLY_chr17_41861918_41923951 | 41887127 | G | GAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0252 | 1 | 294 | 0.0034 | 11 | c.187 others(28): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 17/28 | chr17 | TogoVar | ||||||
ACLY_chr17_41861918_41923951 | 41889524 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0010 | a0001c0010t0011 | a0001c0010t0011g0007 | 1 | 294 | 0.0034 | 11 | c.177 others(30): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 16/28 | chr17 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134834860 | G | GGAAGGAA others(4): Show |
upstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 382 | 0.0026 | 11 | c.-38 others(22): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3755 | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134835230 | A | AGAGTTAA others(4): Show |
upstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 382 | 0.0026 | 11 | c.-34 others(22): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3385 | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134840167 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01361.hp2 HG01516.hp2 others(18): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0008c0010t0001 | a0001c0001t0001g0104a0001c0001t0001g0105a0001c0001t0001g0106others(18): Show | 21 | 382 | 0.0550 | 11 | c.57+ others(26): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACMSD_chr2_134833616_134907034 | 134903897 | A | ATTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG01069.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0075others(26): Show | 29 | 382 | 0.0759 | 11 | c.*20 others(22): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 1864 | chr2 | TogoVar | ||||||
ACOD1_chr13_76943511_76963638 | 76944257 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG02698.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0063 | 3 | 434 | 0.0069 | 11 | c.-43 others(22): Show |
ACOD1 | ENSG00000102794.11 | transcript | ENST00000377462.6 | protein_coding | 4253 | chr13 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54554351 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0006 | a0001c0006t0010 | a0001c0006t0010g0012 | 1 | 388 | 0.0026 | 11 | c.33+ others(26): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACOT11_chr1_54543228_54615329 | 54554352 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00741.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0010 | a0001c0001t0001g0023a0001c0001t0002g0006a0001c0001t0002g0007others(2): Show | 5 | 388 | 0.0129 | 11 | c.33+ others(26): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | chr1 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54571071 | C | CTCTCTCT others(4): Show |
intron_variant | MODIFIER | HG02976.hp1 NA18522.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0174a0002c0002t0003g0175 | 2 | 388 | 0.0052 | 11 | c.34- others(28): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACOT11_chr1_54543228_54615329 | 54599179 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0331 | 1 | 388 | 0.0026 | 11 | c.765 others(26): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 7/15 | chr1 | TogoVar | ||||||
ACOT12_chr5_81324996_81399134 | 81395918 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 278 | 0.0036 | 11 | c.-18 others(22): Show |
ACOT12 | ENSG00000172497.9 | transcript | ENST00000307624.8 | protein_coding | 1785 | chr5 | TogoVar | ||||||
ACOT7_chr1_6259272_6398767 | 6336333 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02055.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0134a0001c0001t0002g0138 | 2 | 240 | 0.0083 | 11 | c.419 others(28): Show |
ACOT7 | ENSG00000097021.21 | transcript | ENST00000361521.9 | protein_coding | 3/8 | chr1 | TogoVar | ||||||
ACOT9_chrX_23696055_23748276 | 23731921 | A | AGAACATT others(4): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0007 | a0007c0005 | a0007c0005t0002 | a0007c0005t0002g0236 | 1 | 309 | 0.0032 | 11 | c.192 others(26): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 4/15 | chrX | TogoVar | ||||||
ACOT9_chrX_23696055_23748276 | 23742236 | G | GAGAGAGA others(4): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0064 | 1 | 309 | 0.0032 | 11 | c.20+ others(24): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 1/15 | chrX | TogoVar | ||||||
ACOX1_chr17_75936507_75984166 | 75968435 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01109.hp2 HG01261.hp1 others(8): Show |
a0001a0003a0004 | a0001c0001a0003c0005a0004c0014 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0002g0043a0001c0001t0003g0010a0001c0001t0003g0017others(8): Show | 11 | 344 | 0.0320 | 11 | c.270 others(28): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 2/13 | chr17 | TogoVar | ||||||
ACOX1_chr17_75936507_75984166 | 75970184 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01243.hp1 HG01934.hp1 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(10): Show | a0001c0001t0002g0139a0001c0001t0003g0017a0001c0001t0003g0034others(19): Show | 22 | 344 | 0.0640 | 11 | c.269 others(28): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 2/13 | chr17 | TogoVar | ||||||
ACOX2_chr3_58500136_58542190 | 58531789 | G | GCTTCTTA others(4): Show |
frameshift_variant | HIGH | HG03209.hp1 | a0005 | a0005c0019 | a0005c0019t0002 | a0005c0019t0002g0266 | 1 | 364 | 0.0028 | 11 | c.606 others(18): Show |
p.Leu others(5): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 6/15 | 769/2297 | 606/2046 | 202/681 | chr3 | TogoVar | ||
ACOX3_chr4_8361282_8445723 | 8361425 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02622.hp1 HG02630.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(2): Show | a0001c0001t0001g0277a0001c0002t0002g0290a0001c0002t0002g0291others(7): Show | 10 | 380 | 0.0263 | 11 | c.*55 others(22): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 4856 | chr4 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 110995499 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02280.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0039a0001c0001t0001g0045a0001c0001t0001g0058others(5): Show | 8 | 150 | 0.0533 | 11 | c.117 others(28): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |