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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALCAM_chr3_105361909_105581900 | 105523139 | CAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00609.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(7): Show | a0001c0001t0001g0132a0001c0001t0004g0183a0001c0003t0001g0145others(31): Show | 35 | 378 | 0.0926 | -6 | c.175 others(23): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALCAM_chr3_105361909_105581900 | 105578676 | AACACAC | A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(56): Show |
a0001a0002a0006 | a0001c0002a0001c0003a0001c0009others(2): Show | a0001c0002t0001a0001c0003t0002a0001c0009t0002others(2): Show | a0001c0002t0001g0204a0001c0003t0002g0014a0001c0003t0002g0015others(55): Show | 59 | 378 | 0.1561 | -6 | c.*42 others(17): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1777 | chr3 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49449794 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00735.hp1 others(70): Show |
a0001a0002a0003others(3): Show | a0001c0005a0002c0003a0002c0007others(6): Show | a0001c0005t0002a0002c0003t0001a0002c0003t0002others(10): Show | a0001c0005t0002g0211a0002c0003t0001g0002a0002c0003t0001g0009others(42): Show | 73 | 342 | 0.2135 | -6 | c.-35 others(17): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 3430 | chr19 | TogoVar | ||||||
ALDH18A1_chr10_95600941_95661711 | 95637967 | AAACAAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00642.hp2 others(71): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0003t0005a0001c0004t0001others(8): Show | a0001c0001t0001g0012a0001c0001t0001g0025a0001c0001t0001g0048others(59): Show | 74 | 372 | 0.1989 | -6 | c.304 others(21): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 3/17 | chr10 | TogoVar | ||||||
ALDH18A1_chr10_95600941_95661711 | 95648320 | TTCATCA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG01099.hp1 others(29): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0008a0001c0004t0001 | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0001g0038others(21): Show | 32 | 372 | 0.0860 | -6 | c.88+ others(21): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 2/17 | chr10 | TogoVar | ||||||
ALDH18A1_chr10_95600941_95661711 | 95649234 | AGTTGGG | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(81): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(52): Show | 84 | 372 | 0.2258 | -6 | c.88+ others(21): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 2/17 | chr10 | TogoVar | ||||||
ALDH1A2_chr15_57948429_58070711 | 57981289 | AACACAC | A | intron_variant | MODIFIER | HG01123.hp1 HG01167.hp1 HG01169.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0013 | a0001c0001t0001g0004a0001c0001t0001g0306a0001c0001t0004g0299others(3): Show | 7 | 326 | 0.0215 | -6 | c.798 others(25): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 7/12 | chr15 | TogoVar | ||||||
ALDH1A2_chr15_57948429_58070711 | 57996298 | CCTCTCT | C | intron_variant | MODIFIER | HG01243.hp2 HG02486.hp1 HG03098.hp2 |
a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0169a0002c0002t0009g0170a0002c0002t0009g0171 | 3 | 326 | 0.0092 | -6 | c.494 others(23): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 4/12 | chr15 | TogoVar | ||||||
ALDH1A2_chr15_57948429_58070711 | 58017805 | CATAAAA | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01361.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0004a0001c0001t0001g0298a0001c0001t0001g0302others(8): Show | 12 | 326 | 0.0368 | -6 | c.118 others(23): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 1/12 | chr15 | TogoVar | ||||||
ALDH1L1_chr3_126098570_126185586 | 126124110 | GACACAC | G | intron_variant | MODIFIER | HG00639.hp1 HG01168.hp1 HG01169.hp1 others(6): Show |
a0001a0004a0019 | a0001c0007a0004c0004a0019c0035 | a0001c0007t0001a0004c0004t0001a0019c0035t0001 | a0001c0007t0001g0126a0004c0004t0001g0157a0004c0004t0001g0206others(6): Show | 9 | 338 | 0.0266 | -6 | c.188 others(23): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 16/22 | chr3 | TogoVar | ||||||
ALDH1L1_chr3_126098570_126185586 | 126170985 | CACTAAG | C | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 NA18964.hp1 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0112a0003c0003t0001g0113a0003c0003t0001g0114others(3): Show | 6 | 338 | 0.0178 | -6 | c.-24 others(23): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ALDH1L1_chr3_126098570_126185586 | 126178746 | TTGTGTG | T | intron_variant | MODIFIER | HG02280.hp1 HG02615.hp2 HG02622.hp1 others(3): Show |
a0002a0005 | a0002c0013a0005c0005 | a0002c0013t0001a0005c0005t0001 | a0002c0013t0001g0038a0005c0005t0001g0001a0005c0005t0001g0015others(1): Show | 6 | 338 | 0.0178 | -6 | c.-24 others(23): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105035825 | CTATATA | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp2 others(54): Show |
a0001a0005a0007 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0003g0093a0001c0001t0003g0104a0001c0001t0003g0105others(54): Show | 57 | 386 | 0.1477 | -6 | c.214 others(25): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 18/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105036123 | ATATTAT | A | intron_variant | MODIFIER | HG00621.hp2 HG01074.hp2 HG01109.hp1 others(35): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0012 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0003g0013a0001c0001t0003g0316a0001c0001t0006g0005others(35): Show | 38 | 386 | 0.0985 | -6 | c.214 others(25): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 18/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105036510 | TATTTTA | T | intron_variant | MODIFIER | HG00639.hp1 HG02165.hp1 HG02698.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0016 | a0001c0002t0002g0187a0001c0002t0002g0199a0001c0002t0002g0223others(5): Show | 8 | 386 | 0.0207 | -6 | c.214 others(25): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 18/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105036514 | TTATATA | T | intron_variant | MODIFIER | HG01243.hp2 HG01358.hp1 HG02572.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0003a0001c0001t0001g0161a0001c0001t0001g0189others(3): Show | 6 | 386 | 0.0155 | -6 | c.214 others(25): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 18/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105038273 | CACACAA | C | intron_variant | MODIFIER | HG01069.hp2 HG01978.hp2 HG02015.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0006a0001c0002t0002a0001c0002t0016others(1): Show | a0001c0001t0006g0375a0001c0002t0002g0147a0001c0002t0002g0166others(15): Show | 18 | 386 | 0.0466 | -6 | c.204 others(21): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 17/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105038279 | AACACAC | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00544.hp2 others(82): Show |
a0001a0005a0007 | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0001g0012a0001c0001t0001g0038a0001c0001t0001g0044others(82): Show | 85 | 386 | 0.2202 | -6 | c.204 others(21): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 17/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105059267 | AAATAAT | A | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG01934.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0012a0001c0001t0001g0017a0001c0001t0001g0071others(27): Show | 30 | 386 | 0.0777 | -6 | c.114 others(25): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 9/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105071614 | GTATATA | G | intron_variant | MODIFIER | HG02615.hp2 HG02717.hp1 NA18522.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0002t0009a0001c0010t0007 | a0001c0001t0001g0057a0001c0002t0009g0056a0001c0010t0007g0047others(1): Show | 4 | 386 | 0.0104 | -6 | c.194 others(21): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 2/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105071638 | ATATATT | A | intron_variant | MODIFIER | HG01243.hp1 HG01257.hp1 HG01258.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0008a0001c0002t0009 | a0001c0001t0004g0046a0001c0001t0008g0052a0001c0001t0008g0062others(4): Show | 7 | 386 | 0.0181 | -6 | c.194 others(21): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 2/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105074457 | CCAAAAA | C | intron_variant | MODIFIER | HG01081.hp1 HG02145.hp2 HG02572.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(3): Show | 6 | 386 | 0.0155 | -6 | c.49- others(19): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
ALDH2_chr12_111761933_111822532 | 111764982 | TTGTGTG | T | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01106.hp1 HG01168.hp1 others(23): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0028a0001c0001t0001g0062a0001c0001t0002g0013others(22): Show | 26 | 342 | 0.0760 | -6 | c.-20 others(17): Show |
ALDH2 | ENSG00000111275.13 | transcript | ENST00000261733.7 | protein_coding | 1950 | chr12 | TogoVar | ||||||
ALDH2_chr12_111761933_111822532 | 111819452 | TATGAGA | T | downstream_gene_variant | MODIFIER | HG02451.hp2 HG02622.hp2 HG02818.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0023a0001c0001t0089others(1): Show | a0001c0001t0014g0179a0001c0001t0023g0174a0001c0001t0023g0177others(2): Show | 5 | 342 | 0.0146 | -6 | c.*98 others(17): Show |
ALDH2 | ENSG00000111275.13 | transcript | ENST00000261733.7 | protein_coding | 1921 | chr12 | TogoVar | ||||||
ALDH3B1_chr11_68005327_68034276 | 68030113 | AAAAAAG | A | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG01109.hp2 others(30): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0002a0001c0001t0015a0001c0003t0002others(7): Show | a0001c0001t0002g0056a0001c0001t0015g0037a0001c0003t0002g0002others(16): Show | 33 | 374 | 0.0882 | -6 | c.*21 others(17): Show |
ALDH3B1 | ENSG00000006534.17 | transcript | ENST00000342456.11 | protein_coding | 838 | chr11 | TogoVar | ||||||
ALDH3B2_chr11_67657155_67679623 | 67672042 | CATATAT | C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00621.hp2 others(17): Show |
a0001a0002a0011others(1): Show | a0001c0001a0002c0002a0011c0016others(1): Show | a0001c0001t0001a0002c0002t0024a0011c0016t0006others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0025a0001c0001t0001g0032others(9): Show | 20 | 390 | 0.0513 | -6 | c.-24 others(25): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
ALDH3B2_chr11_67657155_67679623 | 67672102 | TTGTGTG | T | intron_variant | MODIFIER | HG01496.hp1 HG03195.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0005 | a0001c0001t0001g0119a0001c0009t0005g0086a0001c0009t0005g0087 | 3 | 390 | 0.0077 | -6 | c.-24 others(25): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
ALDH4A1_chr1_18866430_18907555 | 18905688 | AGTGTGT | A | upstream_gene_variant | MODIFIER | HG01069.hp1 HG02698.hp2 NA18993.hp1 |
a0001 | a0001c0003a0001c0007a0001c0039 | a0001c0003t0002a0001c0007t0001a0001c0039t0002 | a0001c0003t0002g0138a0001c0007t0001g0171a0001c0039t0002g0177 | 3 | 406 | 0.0074 | -6 | c.-31 others(17): Show |
ALDH4A1 | ENSG00000159423.17 | transcript | ENST00000375341.8 | protein_coding | 3134 | chr1 | TogoVar | ||||||
ALDH5A1_chr6_24489969_24542207 | 24500647 | AAATAAT | A | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG01943.hp2 others(12): Show |
a0001a0002a0013 | a0001c0001a0002c0002a0013c0017 | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(5): Show | a0001c0001t0001g0179a0002c0002t0002g0058a0002c0002t0002g0061others(12): Show | 15 | 368 | 0.0408 | -6 | c.355 others(23): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALDH5A1_chr6_24489969_24542207 | 24501875 | TTATATA | T | intron_variant | MODIFIER | HG00140.hp2 HG01346.hp2 HG02886.hp1 others(2): Show |
a0002a0009 | a0002c0002a0009c0012 | a0002c0002t0002a0002c0002t0004a0002c0002t0012others(1): Show | a0002c0002t0002g0113a0002c0002t0004g0098a0002c0002t0004g0108others(2): Show | 5 | 368 | 0.0136 | -6 | c.355 others(21): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALDH5A1_chr6_24489969_24542207 | 24526964 | ATGTGTG | A | intron_variant | MODIFIER | HG01891.hp1 NA19011.hp2 NA19030.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0016a0002c0002t0003 | a0001c0001t0016g0132a0002c0002t0003g0343a0002c0002t0003g0344 | 3 | 368 | 0.0082 | -6 | c.117 others(25): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALDH5A1_chr6_24489969_24542207 | 24528369 | TTTTTTC | T | intron_variant | MODIFIER | HG01109.hp1 HG02258.hp2 HG02559.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0020 | a0002c0002t0005g0059a0002c0002t0005g0060a0002c0002t0005g0063others(4): Show | 7 | 368 | 0.0190 | -6 | c.134 others(23): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALDH7A1_chr5_126536841_126600219 | 126549073 | CAAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 NA18943.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0008a0001c0001t0002g0090a0001c0001t0002g0179others(4): Show | 7 | 380 | 0.0184 | -6 | c.148 others(23): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 16/17 | chr5 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126559422 | TTTTTGG | T | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(31): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0011 | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(9): Show | a0001c0001t0001g0284a0001c0001t0006g0004a0001c0001t0013g0285others(30): Show | 34 | 380 | 0.0895 | -6 | c.914 others(19): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 10/17 | chr5 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126561483 | AGTGTGT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(245): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0011others(245): Show | 248 | 380 | 0.6526 | -6 | c.872 others(21): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 9/17 | chr5 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126571150 | ATTTTTT | A | intron_variant | MODIFIER | HG02027.hp2 HG02074.hp2 HG02129.hp1 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002a0001c0004t0003others(1): Show | a0001c0004t0001g0288a0001c0004t0002g0293a0001c0004t0002g0298others(3): Show | 6 | 380 | 0.0158 | -6 | c.696 others(21): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 7/17 | chr5 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126593308 | AACACAC | A | intron_variant | MODIFIER | HG01496.hp1 HG02257.hp2 HG02622.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0278a0001c0001t0001g0284a0001c0001t0001g0287others(8): Show | 11 | 380 | 0.0290 | -6 | c.246 others(19): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 2/17 | chr5 | TogoVar | ||||||
ALDH9A1_chr1_165657216_165703562 | 165672972 | AACACAC | A | intron_variant | MODIFIER | HG01516.hp2 HG03225.hp2 HG03942.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0003t0001a0001c0004t0004 | a0001c0001t0002g0210a0001c0001t0002g0249a0001c0003t0001g0276others(2): Show | 5 | 332 | 0.0151 | -6 | c.931 others(23): Show |
ALDH9A1 | ENSG00000143149.13 | transcript | ENST00000354775.5 | protein_coding | 6/10 | chr1 | TogoVar | ||||||
ALDOA_chr16_30060760_30075414 | 30068497 | GGAGGCT | G | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp2 HG02818.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0008a0001c0001t0001g0028a0001c0001t0001g0030others(2): Show | 10 | 370 | 0.0270 | -6 | c.487 others(21): Show |
ALDOA | ENSG00000149925.22 | transcript | ENST00000642816.3 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ALG10B_chr12_38311774_38334721 | 38331291 | GGGGAGA | G | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02451.hp2 HG03098.hp2 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0009 | a0002c0004t0009g0005 | 4 | 452 | 0.0089 | -6 | c.*10 others(19): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 1571 | chr12 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49897220 | TCACCTA | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(56): Show |
a0001a0005a0007 | a0001c0002a0001c0005a0005c0014others(1): Show | a0001c0002t0003a0001c0002t0007a0001c0002t0008others(14): Show | a0001c0002t0003g0009a0001c0002t0003g0021a0001c0002t0003g0022others(38): Show | 59 | 348 | 0.1695 | -6 | c.*66 others(17): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 3008 | chr22 | TogoVar | ||||||
ALG13_chrX_111676170_111765649 | 111703185 | GTCATCA | G | intron_variant | MODIFIER | HG01243.hp1 HG02559.hp1 HG02809.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(1): Show | 4 | 191 | 0.0209 | -6 | c.384 others(23): Show |
ALG13 | ENSG00000101901.13 | transcript | ENST00000394780.8 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ALG13_chrX_111676170_111765649 | 111716597 | TAACTTA | T | intron_variant | MODIFIER | HG02965.hp1 HG02976.hp1 HG03471.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0010a0003c0004t0001g0067a0003c0004t0001g0068others(1): Show | 4 | 191 | 0.0209 | -6 | c.100 others(25): Show |
ALG13 | ENSG00000101901.13 | transcript | ENST00000394780.8 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ALG13_chrX_111676170_111765649 | 111744725 | TACCACC | T | disruptive_inframe_deletion | MODERATE | HG02738.hp1 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0156 | 1 | 191 | 0.0052 | -6 | c.279 others(15): Show |
p.Pro others(13): Show |
ALG13 | ENSG00000101901.13 | transcript | ENST00000394780.8 | protein_coding | 24/27 | 2842/4113 | 2793/3414 | 931/1137 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ALG14_chr1_94969405_95077951 | 95016942 | GGTGTGT | G | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp1 others(59): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0296a0001c0001t0002g0221a0001c0001t0002g0223others(59): Show | 62 | 388 | 0.1598 | -6 | c.420 others(25): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
ALG14_chr1_94969405_95077951 | 95026462 | ATGTGTG | A | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0037a0001c0001t0038a0001c0001t0051others(1): Show | a0001c0001t0037g0009a0001c0001t0037g0018a0001c0001t0038g0007others(3): Show | 6 | 388 | 0.0155 | -6 | c.420 others(21): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
ALG14_chr1_94969405_95077951 | 95060129 | AACACAC | A | intron_variant | MODIFIER | HG00597.hp1 HG01099.hp2 HG01109.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0012a0001c0001t0018others(12): Show | a0001c0001t0008g0102a0001c0001t0008g0103a0001c0001t0012g0092others(17): Show | 20 | 388 | 0.0516 | -6 | c.288 others(23): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
ALG1L2_chr3_130076831_130103390 | 130079049 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG02055.hp1 HG02257.hp1 others(2): Show |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0002a0002c0002t0001 | a0001c0006t0002g0018a0002c0002t0001g0005 | 5 | 261 | 0.0192 | -6 | c.-29 others(17): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 2781 | chr3 | TogoVar | ||||||
ALG1L2_chr3_130076831_130103390 | 130095409 | TTTATTA | T | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00438.hp1 others(41): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0014a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0014t0001others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0024others(22): Show | 44 | 261 | 0.1686 | -6 | c.425 others(21): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALG1L2_chr3_130076831_130103390 | 130099980 | AACACAC | A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00597.hp1 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0044a0001c0001t0001g0087a0001c0001t0001g0093others(14): Show | 18 | 261 | 0.0690 | -6 | c.*17 others(17): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1591 | chr3 | TogoVar |