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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALDH1A2_chr15_57948429_58070711 | 57981289 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02074.hp2 HG02717.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0024a0002c0002t0002 | a0001c0001t0024g0273a0002c0002t0002g0087a0002c0002t0002g0098others(5): Show | 8 | 326 | 0.0245 | 10 | c.798 others(29): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 7/12 | chr15 | TogoVar | ||||||
ALDH1A2_chr15_57948429_58070711 | 58004693 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG01884.hp1 others(18): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0006a0002c0002t0020others(1): Show | a0002c0002t0002g0058a0002c0002t0002g0062a0002c0002t0002g0069others(18): Show | 21 | 326 | 0.0644 | 10 | c.493 others(27): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 4/12 | chr15 | TogoVar | ||||||
ALDH1A2_chr15_57948429_58070711 | 58023658 | G | GAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(77): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0008a0002c0002t0002a0002c0002t0006others(7): Show | a0001c0001t0008g0149a0002c0002t0002g0003a0002c0002t0002g0057others(76): Show | 80 | 326 | 0.2454 | 10 | c.118 others(27): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 1/12 | chr15 | TogoVar | ||||||
ALDH1A2_chr15_57948429_58070711 | 58061595 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03209.hp1 HG03486.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0021 | a0002c0002t0002g0129a0002c0002t0002g0130a0002c0002t0002g0132others(1): Show | 4 | 326 | 0.0123 | 10 | c.117 others(27): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 1/12 | chr15 | TogoVar | ||||||
ALDH1L1_chr3_126098570_126185586 | 126124110 | G | GACACACA others(3): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02809.hp1 others(2): Show |
a0001a0011a0013 | a0001c0007a0011c0011a0013c0021 | a0001c0007t0001a0011c0011t0001a0013c0021t0001 | a0001c0007t0001g0181a0001c0007t0001g0239a0011c0011t0001g0021others(2): Show | 5 | 338 | 0.0148 | 10 | c.188 others(27): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 16/22 | chr3 | TogoVar | ||||||
ALDH1L1_chr3_126098570_126185586 | 126155323 | C | CATCTGGC others(3): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0028 | a0028c0025 | a0028c0025t0001 | a0028c0025t0001g0159 | 1 | 338 | 0.0030 | 10 | c.630 others(23): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 5/22 | chr3 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105035837 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0065 | 1 | 386 | 0.0026 | 10 | c.214 others(29): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 18/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105035839 | A | ATATGTGT others(3): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0068a0001c0002t0010g0072 | 2 | 386 | 0.0052 | 10 | c.214 others(29): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 18/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105035839 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02109.hp2 others(11): Show |
a0001 | a0001c0002a0001c0010 | a0001c0002t0007a0001c0002t0009a0001c0002t0025others(1): Show | a0001c0002t0007g0001a0001c0002t0007g0053a0001c0002t0007g0054others(10): Show | 14 | 386 | 0.0363 | 10 | c.214 others(29): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 18/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105046149 | T | TTCTCTCT others(3): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01243.hp2 HG01934.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0030others(1): Show | a0001c0001t0001g0360a0001c0001t0003g0025a0001c0001t0003g0090others(5): Show | 8 | 386 | 0.0207 | 10 | c.186 others(27): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 15/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105046193 | C | CTCTATAT others(3): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG02896.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0012a0001c0007t0001 | a0001c0001t0012g0020a0001c0007t0001g0088a0001c0007t0001g0129 | 3 | 386 | 0.0078 | 10 | c.186 others(27): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 15/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105046193 | C | CTCTCTCT others(3): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0339 | 1 | 386 | 0.0026 | 10 | c.186 others(27): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 15/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105046193 | C | CTCTCTCT others(3): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0347 | 1 | 386 | 0.0026 | 10 | c.186 others(27): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 15/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105062338 | G | GGGACTCT others(3): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp2 others(110): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0083a0001c0001t0001g0161a0001c0001t0001g0174others(110): Show | 113 | 386 | 0.2928 | 10 | c.921 others(25): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 7/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105064114 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02922.hp1 HG03490.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0002a0001c0002t0009 | a0001c0001t0013g0023a0001c0002t0002g0118a0001c0002t0002g0130others(1): Show | 4 | 386 | 0.0104 | 10 | c.787 others(27): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 6/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105071614 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG00621.hp1 HG03490.hp2 NA18962.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(1): Show | a0001c0001t0001g0131a0001c0001t0003g0132a0001c0001t0014g0143others(1): Show | 4 | 386 | 0.0104 | 10 | c.194 others(25): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 2/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105071642 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01928.hp1 HG01978.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0003g0110a0001c0001t0004g0109a0001c0001t0005g0108others(3): Show | 6 | 386 | 0.0155 | 10 | c.194 others(25): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 2/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105071642 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | NA18971.hp2 NA18982.hp1 NA19000.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(1): Show | a0001c0001t0001g0102a0001c0001t0003g0101a0001c0001t0014g0082others(1): Show | 4 | 386 | 0.0104 | 10 | c.194 others(25): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 2/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105074457 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01934.hp1 HG02300.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0003g0025a0001c0001t0003g0032a0001c0001t0003g0036others(7): Show | 10 | 386 | 0.0259 | 10 | c.49- others(23): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105079211 | C | CTGGAATA others(3): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0034 | a0001c0001t0001g0337a0001c0001t0034g0338 | 2 | 386 | 0.0052 | 10 | c.48+ others(25): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
ALDH3A1_chr17_19732989_19753298 | 19746711 | A | ATGTGCGT others(3): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02145.hp1 HG02615.hp1 others(6): Show |
a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0015a0002c0005t0002g0029a0002c0005t0002g0061others(1): Show | 9 | 424 | 0.0212 | 10 | c.-6+ others(25): Show |
ALDH3A1 | ENSG00000108602.18 | transcript | ENST00000225740.11 | protein_coding | 1/10 | chr17 | TogoVar | ||||||
ALDH3A2_chr17_19643751_19682596 | 19682329 | T | TCACACAC others(3): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 NA18964.hp1 NA18968.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0003g0007a0001c0001t0003g0027others(1): Show | 5 | 366 | 0.0137 | 10 | c.*67 others(21): Show |
ALDH3A2 | ENSG00000072210.19 | transcript | ENST00000176643.11 | protein_coding | 4734 | chr17 | TogoVar | ||||||
ALDH3B1_chr11_68005327_68034276 | 68030111 | C | CAAAAAAA others(3): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0015 | 1 | 374 | 0.0027 | 10 | c.*21 others(21): Show |
ALDH3B1 | ENSG00000006534.17 | transcript | ENST00000342456.11 | protein_coding | 836 | chr11 | TogoVar | ||||||
ALDH3B2_chr11_67657155_67679623 | 67672042 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02809.hp2 NA19005.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0003 | a0001c0001t0001g0031a0001c0001t0001g0072a0004c0004t0003g0202 | 4 | 390 | 0.0103 | 10 | c.-24 others(29): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
ALDH3B2_chr11_67657155_67679623 | 67672085 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0065 | 1 | 390 | 0.0026 | 10 | c.-24 others(29): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
ALDH4A1_chr1_18866430_18907555 | 18876661 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02027.hp1 HG02559.hp1 others(4): Show |
a0001a0005a0015 | a0001c0001a0001c0003a0005c0011others(1): Show | a0001c0001t0007a0001c0003t0023a0005c0011t0004others(1): Show | a0001c0001t0007g0070a0001c0003t0023g0244a0005c0011t0004g0013others(2): Show | 7 | 406 | 0.0172 | 10 | c.118 others(27): Show |
ALDH4A1 | ENSG00000159423.17 | transcript | ENST00000375341.8 | protein_coding | 11/14 | chr1 | TogoVar | ||||||
ALDH5A1_chr6_24489969_24542207 | 24506243 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG01074.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0164a0001c0001t0001g0165others(18): Show | 21 | 368 | 0.0571 | 10 | c.726 others(27): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALDH5A1_chr6_24489969_24542207 | 24522501 | G | GTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02602.hp2 HG03239.hp1 HG03490.hp2 others(18): Show |
a0002a0003 | a0002c0002a0003c0003a0003c0005 | a0002c0002t0003a0003c0003t0001a0003c0003t0033others(1): Show | a0002c0002t0003g0054a0002c0002t0003g0056a0002c0002t0003g0057others(18): Show | 21 | 368 | 0.0571 | 10 | c.101 others(27): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALDH5A1_chr6_24489969_24542207 | 24526929 | A | ATCTTCTA others(3): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02922.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120a0001c0001t0002g0348a0001c0001t0002g0349 | 3 | 368 | 0.0082 | 10 | c.117 others(29): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
ALDH6A1_chr14_74051847_74089453 | 74059083 | T | TCAAAAAA others(3): Show |
3_prime_UTR_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0051 | 1 | 402 | 0.0025 | 10 | c.*15 others(21): Show |
ALDH6A1 | ENSG00000119711.13 | transcript | ENST00000553458.6 | protein_coding | 12/12 | 1558 | chr14 | TogoVar | |||||
ALDH7A1_chr5_126536841_126600219 | 126539014 | A | AGTTTTGT others(3): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(229): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0011others(228): Show | 232 | 380 | 0.6105 | 10 | c.*59 others(21): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 2826 | chr5 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126571150 | A | ATTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02976.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0279a0001c0001t0006g0007a0001c0001t0006g0109 | 3 | 380 | 0.0079 | 10 | c.696 others(25): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 7/17 | chr5 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126593308 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01069.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0121a0001c0001t0001g0311a0001c0001t0001g0361others(14): Show | 17 | 380 | 0.0447 | 10 | c.246 others(23): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 2/17 | chr5 | TogoVar | ||||||
ALDH9A1_chr1_165657216_165703562 | 165672972 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG02717.hp1 NA18987.hp2 NA19062.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0049a0001c0001t0001g0091a0002c0005t0001g0132 | 3 | 332 | 0.0090 | 10 | c.931 others(27): Show |
ALDH9A1 | ENSG00000143149.13 | transcript | ENST00000354775.5 | protein_coding | 6/10 | chr1 | TogoVar | ||||||
ALDH9A1_chr1_165657216_165703562 | 165701806 | T | TGATGACC others(3): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 HG02976.hp1 HG03516.hp1 |
a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0255a0001c0006t0003g0256a0001c0006t0003g0257 | 3 | 332 | 0.0090 | 10 | c.-32 others(21): Show |
ALDH9A1 | ENSG00000143149.13 | transcript | ENST00000354775.5 | protein_coding | 3245 | chr1 | TogoVar | ||||||
ALG10B_chr12_38311774_38334721 | 38326169 | G | GATTTTAT others(3): Show |
3_prime_UTR_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0003 | a0001c0003t0050 | a0001c0003t0050g0004 | 1 | 452 | 0.0022 | 10 | c.*49 others(21): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 3/3 | 4981 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
ALG10B_chr12_38311774_38334721 | 38333547 | T | TATTTGAT others(3): Show |
downstream_gene_variant | MODIFIER | NA18976.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 452 | 0.0022 | 10 | c.*12 others(23): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 3827 | chr12 | TogoVar | ||||||
ALG10B_chr12_38311774_38334721 | 38333759 | A | ATGTGTGT others(3): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG00733.hp1 HG00738.hp1 others(46): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(18): Show | a0001c0001t0001g0001a0001c0001t0005g0002a0001c0001t0006g0006others(18): Show | 49 | 452 | 0.1084 | 10 | c.*12 others(23): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 4039 | chr12 | TogoVar | ||||||
ALG10_chr12_34017496_34033302 | 34029736 | A | ATTTTTTT others(3): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG01168.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0007g0009 | 14 | 332 | 0.0422 | 10 | c.*28 others(21): Show |
ALG10 | ENSG00000139133.7 | transcript | ENST00000266483.7 | protein_coding | 1435 | chr12 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49917705 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(67): Show |
a0001a0002a0007 | a0001c0002a0001c0005a0002c0003others(1): Show | a0001c0002t0003a0001c0002t0007a0001c0002t0008others(18): Show | a0001c0002t0003g0009a0001c0002t0003g0021a0001c0002t0003g0022others(38): Show | 70 | 348 | 0.2012 | 10 | c.-79 others(25): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
ALG13_chrX_111676170_111765649 | 111755572 | A | AAATTTAC others(3): Show |
intron_variant | MODIFIER | NA18953.hp1 NA19066.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0114a0002c0003t0001g0148 | 2 | 191 | 0.0105 | 10 | c.297 others(29): Show |
ALG13 | ENSG00000101901.13 | transcript | ENST00000394780.8 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ALG14_chr1_94969405_95077951 | 95016942 | G | GGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG03831.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0153a0001c0001t0161 | a0001c0001t0153g0351a0001c0001t0161g0323 | 2 | 388 | 0.0052 | 10 | c.420 others(29): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
ALG14_chr1_94969405_95077951 | 95026462 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02040.hp1 NA19000.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0074 | a0001c0001t0017g0312a0001c0001t0017g0380a0001c0001t0017g0381others(1): Show | 4 | 388 | 0.0103 | 10 | c.420 others(25): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
ALG14_chr1_94969405_95077951 | 95033420 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0054a0001c0001t0062 | a0001c0001t0054g0021a0001c0001t0062g0024 | 2 | 388 | 0.0052 | 10 | c.289 others(27): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
ALG14_chr1_94969405_95077951 | 95046973 | A | AAACATAA others(3): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00735.hp2 HG01074.hp1 others(18): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0293a0001c0001t0002g0223a0001c0001t0003g0148others(18): Show | 21 | 388 | 0.0541 | 10 | c.288 others(29): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
ALG1L2_chr3_130076831_130103390 | 130079049 | C | CAAAAAAA others(3): Show |
upstream_gene_variant | MODIFIER | NA19000.hp1 NA20300.hp2 |
a0001a0007 | a0001c0001a0007c0013 | a0001c0001t0001a0007c0013t0001 | a0001c0001t0001g0013a0007c0013t0001g0116 | 2 | 261 | 0.0077 | 10 | c.-29 others(21): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 2781 | chr3 | TogoVar | ||||||
ALG1L2_chr3_130076831_130103390 | 130080282 | C | CTTTTTTT others(3): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG02055.hp1 HG02074.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0006t0002a0002c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(11): Show | 17 | 261 | 0.0651 | 10 | c.-17 others(21): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1548 | chr3 | TogoVar | ||||||
ALG1L2_chr3_130076831_130103390 | 130082455 | A | AGTGCTCT others(3): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0005 | a0005c0009 | a0005c0009t0005 | a0005c0009t0005g0046 | 1 | 261 | 0.0038 | 10 | c.20+ others(23): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALG1L2_chr3_130076831_130103390 | 130101468 | A | ACAAAACA others(3): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00639.hp2 others(41): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0008others(1): Show | a0001c0001t0002a0001c0006t0002a0001c0008t0002others(1): Show | a0001c0001t0002g0001a0001c0001t0002g0014a0001c0001t0002g0015others(17): Show | 44 | 261 | 0.1686 | 10 | c.*32 others(21): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 3079 | chr3 | TogoVar | ||||||
ALG1_chr16_5066843_5092379 | 5068700 | A | AAAATAAA others(3): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00741.hp1 others(19): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0003a0001c0002t0002a0001c0002t0012others(5): Show | a0001c0001t0003g0004a0001c0002t0002g0002a0001c0002t0002g0015others(9): Show | 22 | 444 | 0.0496 | 10 | c.-31 others(21): Show |
ALG1 | ENSG00000033011.14 | transcript | ENST00000262374.10 | protein_coding | 3142 | chr16 | TogoVar |