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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AKAP17A_chrX_1586604_1607520 | 1596581 | C | CTCCTCCT others(2): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02818.hp1 HG02970.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002 | a0002c0003t0001g0074a0002c0003t0002g0073a0002c0003t0002g0075others(2): Show | 5 | 151 | 0.0331 | 9 | c.911 others(26): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AKAP17A_chrX_1586604_1607520 | 1596628 | C | CTCCTCCT others(2): Show |
intron_variant | MODIFIER | HG02451.hp2 NA18942.hp2 |
a0001a0002 | a0001c0012a0002c0002 | a0001c0012t0003a0002c0002t0002 | a0001c0012t0003g0124a0002c0002t0002g0022 | 2 | 151 | 0.0133 | 9 | c.911 others(26): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AKAP17A_chrX_1586604_1607520 | 1596675 | C | CTCCTCCT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02080.hp2 NA18947.hp2 |
a0001a0002 | a0001c0004a0002c0002a0002c0003 | a0001c0004t0012a0002c0002t0002a0002c0003t0002 | a0001c0004t0012g0065a0002c0002t0002g0036a0002c0003t0002g0055 | 3 | 151 | 0.0199 | 9 | c.911 others(26): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AKAP17A_chrX_1586604_1607520 | 1596722 | C | CTCCTCCT others(2): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0028 | 1 | 151 | 0.0066 | 9 | c.911 others(26): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32724990 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01978.hp1 others(6): Show |
a0002a0003a0005others(4): Show | a0002c0009a0003c0003a0003c0057others(5): Show | a0002c0009t0009a0003c0003t0002a0003c0057t0026others(5): Show | a0002c0009t0009g0092a0003c0003t0002g0096a0003c0057t0026g0003others(6): Show | 9 | 154 | 0.0584 | 9 | c.300 others(28): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP7_chr6_131130467_131288532 | 131135529 | G | GCTGCTGC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG01123.hp2 HG01884.hp1 HG02257.hp1 others(5): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0016a0002c0002t0015a0002c0002t0017others(2): Show | a0001c0001t0016g0006a0002c0002t0015g0008a0002c0002t0015g0009others(5): Show | 8 | 304 | 0.0263 | 9 | c.-22 others(18): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 1/8 | 226 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
AKAP7_chr6_131130467_131288532 | 131256708 | C | CATTATTA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG01123.hp2 others(24): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0020a0001c0001t0001g0023a0001c0001t0001g0024others(24): Show | 27 | 304 | 0.0888 | 9 | c.851 others(28): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKAP8L_chr19_15375050_15423988 | 15395983 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(139): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(132): Show | 142 | 254 | 0.5591 | 9 | c.153 others(28): Show |
AKAP8L | ENSG00000011243.19 | transcript | ENST00000397410.10 | protein_coding | 12/13 | chr19 | TogoVar | ||||||
AKAP8_chr19_15348385_15384787 | 15353320 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG01346.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0064others(16): Show | 19 | 286 | 0.0664 | 9 | c.*15 others(20): Show |
AKAP8 | ENSG00000105127.10 | transcript | ENST00000269701.7 | protein_coding | 64 | chr19 | TogoVar | ||||||
AKAP8_chr19_15348385_15384787 | 15364108 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01934.hp2 HG02683.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0002g0011others(8): Show | 12 | 286 | 0.0420 | 9 | c.116 others(28): Show |
AKAP8 | ENSG00000105127.10 | transcript | ENST00000269701.7 | protein_coding | 9/13 | chr19 | TogoVar | ||||||
AKAP9_chr7_91935862_92115673 | 92102448 | T | TTACTACT others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01256.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069a0001c0001t0001g0070a0001c0001t0001g0088others(20): Show | 23 | 306 | 0.0752 | 9 | c.110 others(28): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 45/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKIP1_chr11_8906189_8925079 | 8909439 | A | AAGAAGAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0005a0006 | a0001c0001a0005c0005a0006c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(74): Show | 219 | 420 | 0.5214 | 9 | c.-17 others(20): Show |
AKIP1 | ENSG00000166452.12 | transcript | ENST00000309377.9 | protein_coding | 1749 | chr11 | TogoVar | ||||||
AKIRIN1_chr1_38986276_39011059 | 38994672 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02300.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0062a0001c0001t0001g0148a0001c0001t0001g0180others(2): Show | 6 | 426 | 0.0141 | 9 | c.220 others(26): Show |
AKIRIN1 | ENSG00000174574.16 | transcript | ENST00000432648.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AKNAD1_chr1_108810901_108862094 | 108853136 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01515.hp2 HG01517.hp1 others(16): Show |
a0006a0007a0017others(2): Show | a0006c0017a0006c0028a0006c0037others(8): Show | a0006c0017t0011a0006c0028t0004a0006c0037t0001others(8): Show | a0006c0017t0011g0103a0006c0028t0004g0010a0006c0037t0001g0328others(12): Show | 19 | 398 | 0.0477 | 9 | c.-10 others(26): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 1/15 | chr1 | TogoVar | ||||||
AKR1A1_chr1_45545826_45575049 | 45549000 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01258.hp1 HG01258.hp2 HG02451.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0035others(12): Show | 15 | 352 | 0.0426 | 9 | c.-21 others(20): Show |
AKR1A1 | ENSG00000117448.14 | transcript | ENST00000351829.9 | protein_coding | 1825 | chr1 | TogoVar | ||||||
AKR1C1_chr10_4958415_4988283 | 4959715 | A | AGGCTGAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00733.hp2 others(26): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0004a0001c0001t0013a0001c0001t0016others(8): Show | a0001c0001t0004g0010a0001c0001t0004g0018a0001c0001t0004g0096others(14): Show | 29 | 426 | 0.0681 | 9 | c.-37 others(20): Show |
AKR1C1 | ENSG00000187134.14 | transcript | ENST00000380872.9 | protein_coding | 3699 | chr10 | TogoVar | ||||||
AKR1D1_chr7_138071459_138123305 | 138100088 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01516.hp1 HG02083.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0037 | a0001c0001t0003g0019a0001c0001t0003g0051a0001c0001t0003g0055others(4): Show | 8 | 426 | 0.0188 | 9 | c.456 others(26): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKR7A2_chr1_19298965_19317144 | 19312149 | G | GCCGGGGG others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(59): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0014a0002c0002others(2): Show | a0001c0001t0001a0001c0014t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0016a0001c0001t0001g0017others(25): Show | 62 | 460 | 0.1348 | 9 | c.-26 others(16): Show |
AKR7A2 | ENSG00000053371.13 | transcript | ENST00000235835.8 | protein_coding | 6 | chr1 | TogoVar | ||||||
AKT2_chr19_40225317_40290345 | 40244056 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00673.hp1 others(37): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0010a0001c0001t0001g0193a0001c0001t0001g0219others(35): Show | 40 | 360 | 0.1111 | 9 | c.288 others(26): Show |
AKT2 | ENSG00000105221.18 | transcript | ENST00000392038.7 | protein_coding | 4/13 | chr19 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243686652 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02145.hp2 HG02155.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0218a0001c0001t0001g0223a0001c0001t0001g0252others(5): Show | 8 | 301 | 0.0266 | 9 | c.172 others(26): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 3/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243815776 | A | AGTTGTTG others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02145.hp2 HG02280.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(2): Show | a0001c0001t0001g0206a0001c0001t0003g0204a0001c0001t0003g0205others(7): Show | 10 | 301 | 0.0332 | 9 | c.46+ others(26): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | ||||||
ALAD_chr9_113381312_113406284 | 113381760 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 HG01934.hp2 HG02300.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0029a0001c0001t0001g0085a0001c0001t0001g0254others(4): Show | 8 | 446 | 0.0179 | 9 | c.*65 others(20): Show |
ALAD | ENSG00000148218.16 | transcript | ENST00000409155.8 | protein_coding | 4551 | chr9 | TogoVar | ||||||
ALDH1A2_chr15_57948429_58070711 | 58023658 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01928.hp2 HG01943.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0007a0002c0002t0009 | a0002c0002t0002g0083a0002c0002t0002g0094a0002c0002t0002g0098others(10): Show | 13 | 326 | 0.0399 | 9 | c.118 others(26): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 1/12 | chr15 | TogoVar | ||||||
ALDH1A2_chr15_57948429_58070711 | 58061595 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01884.hp1 HG02135.hp2 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0119a0002c0002t0002g0120a0002c0002t0002g0121others(8): Show | 11 | 326 | 0.0337 | 9 | c.117 others(26): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 1/12 | chr15 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105074457 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01975.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0032 | a0001c0001t0003g0043a0001c0001t0004g0026a0001c0001t0004g0028others(2): Show | 5 | 386 | 0.0130 | 9 | c.49- others(22): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105088569 | A | AAACAACA others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00621.hp1 others(78): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0012a0001c0001t0001g0086a0001c0001t0001g0087others(78): Show | 81 | 386 | 0.2098 | 9 | c.-41 others(20): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 4112 | chr12 | TogoVar | ||||||
ALDH4A1_chr1_18866430_18907555 | 18880023 | C | CGCTGCTC others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(107): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0025others(89): Show | 110 | 406 | 0.2709 | 9 | c.867 others(24): Show |
ALDH4A1 | ENSG00000159423.17 | transcript | ENST00000375341.8 | protein_coding | 8/14 | chr1 | TogoVar | ||||||
ALDH5A1_chr6_24489969_24542207 | 24500647 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00733.hp2 others(25): Show |
a0001a0002a0003 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0010a0001c0001t0001g0159a0001c0001t0001g0160others(25): Show | 28 | 368 | 0.0761 | 9 | c.355 others(26): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALG10_chr12_34017496_34033302 | 34029736 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01070.hp2 others(18): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0002a0003c0007t0002 | a0001c0001t0002g0003a0001c0001t0002g0004a0003c0007t0002g0003 | 21 | 332 | 0.0633 | 9 | c.*28 others(20): Show |
ALG10 | ENSG00000139133.7 | transcript | ENST00000266483.7 | protein_coding | 1435 | chr12 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49917705 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01074.hp2 HG01361.hp2 others(16): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0003 | a0001c0002t0003a0001c0002t0007a0001c0002t0016others(6): Show | a0001c0002t0003g0063a0001c0002t0003g0081a0001c0002t0003g0092others(12): Show | 19 | 348 | 0.0546 | 9 | c.-79 others(24): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
ALG13_chrX_111676170_111765649 | 111678265 | G | GAAACATC others(2): Show |
upstream_gene_variant | MODIFIER | NA19058.hp1 | a0011 | a0011c0020 | a0011c0020t0001 | a0011c0020t0001g0006 | 1 | 191 | 0.0052 | 9 | c.-29 others(20): Show |
ALG13 | ENSG00000101901.13 | transcript | ENST00000394780.8 | protein_coding | 2904 | chrX | TogoVar | ||||||
ALG1L2_chr3_130076831_130103390 | 130079049 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG02735.hp1 HG03942.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0118others(1): Show | 5 | 261 | 0.0192 | 9 | c.-29 others(20): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 2781 | chr3 | TogoVar | ||||||
ALG1L2_chr3_130076831_130103390 | 130080282 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01106.hp1 HG01175.hp1 others(11): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0001 | a0001c0001t0001g0002a0001c0001t0001g0021a0001c0001t0001g0044others(8): Show | 14 | 261 | 0.0536 | 9 | c.-17 others(20): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1548 | chr3 | TogoVar | ||||||
ALG8_chr11_78095946_78144626 | 78130348 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01070.hp2 HG01975.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0009t0001a0002c0002t0001 | a0001c0001t0001g0109a0001c0001t0001g0181a0001c0001t0001g0183others(5): Show | 8 | 402 | 0.0199 | 9 | c.96- others(24): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 1/12 | chr11 | TogoVar | ||||||
ALG9_chr11_111777195_111876581 | 111812915 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02895.hp1 HG02922.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0287a0001c0001t0001g0291a0001c0001t0001g0293others(9): Show | 12 | 314 | 0.0382 | 9 | c.160 others(28): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 13/14 | chr11 | TogoVar | ||||||
ALG9_chr11_111777195_111876581 | 111826066 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00733.hp2 HG01099.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0002g0157a0001c0001t0002g0184a0001c0001t0003g0222others(22): Show | 26 | 314 | 0.0828 | 9 | c.160 others(30): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 13/14 | chr11 | TogoVar | ||||||
ALG9_chr11_111777195_111876581 | 111850706 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01255.hp1 HG01358.hp1 others(15): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0003a0002c0002t0001a0002c0002t0004others(1): Show | a0001c0001t0003g0219a0002c0002t0001g0028a0002c0002t0001g0032others(15): Show | 18 | 314 | 0.0573 | 9 | c.895 others(26): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 8/14 | chr11 | TogoVar | ||||||
ALKBH1_chr14_77667404_77713023 | 77680677 | C | CTCTTTTT others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01257.hp2 HG02559.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0011a0002c0002t0004others(3): Show | a0001c0001t0002g0044a0001c0001t0002g0045a0001c0001t0011g0043others(14): Show | 22 | 360 | 0.0611 | 9 | c.456 others(24): Show |
ALKBH1 | ENSG00000100601.10 | transcript | ENST00000216489.8 | protein_coding | 3/5 | chr14 | TogoVar | ||||||
ALKBH1_chr14_77667404_77713023 | 77680677 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01081.hp1 HG01243.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022a0001c0001t0002g0139a0001c0001t0002g0141others(4): Show | 8 | 360 | 0.0222 | 9 | c.456 others(24): Show |
ALKBH1 | ENSG00000100601.10 | transcript | ENST00000216489.8 | protein_coding | 3/5 | chr14 | TogoVar | ||||||
ALKBH5_chr17_18178828_18214954 | 18191949 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(17): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0001a0001c0002t0004g0006a0001c0002t0004g0099others(9): Show | 20 | 418 | 0.0479 | 9 | c.771 others(26): Show |
ALKBH5 | ENSG00000091542.9 | transcript | ENST00000399138.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALK_chr2_29187774_29926586 | 29203485 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01106.hp2 HG01109.hp1 others(13): Show |
a0001a0002a0003 | a0001c0004a0001c0009a0001c0016others(10): Show | a0001c0004t0001a0001c0004t0008a0001c0009t0005others(11): Show | a0001c0004t0001g0037a0001c0004t0008g0003a0001c0009t0005g0018others(13): Show | 16 | 80 | 0.2000 | 9 | c.393 others(28): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 26/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29216933 | G | GCATGTGT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00738.hp1 others(13): Show |
a0001a0002a0006 | a0001c0017a0001c0022a0001c0033others(10): Show | a0001c0017t0001a0001c0022t0001a0001c0033t0001others(10): Show | a0001c0017t0001g0012a0001c0022t0001g0007a0001c0033t0001g0029others(13): Show | 16 | 80 | 0.2000 | 9 | c.364 others(28): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 23/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29470326 | G | GTGAAGAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01106.hp1 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0006a0001c0009others(10): Show | a0001c0004t0008a0001c0006t0001a0001c0009t0005others(10): Show | a0001c0004t0008g0003a0001c0006t0001g0036a0001c0009t0005g0018others(11): Show | 14 | 80 | 0.1750 | 9 | c.115 others(30): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29644609 | C | CCATTCAT others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01074.hp2 HG01109.hp2 others(22): Show |
a0001a0002a0003others(4): Show | a0001c0004a0001c0006a0001c0009others(20): Show | a0001c0004t0008a0001c0006t0007a0001c0009t0005others(20): Show | a0001c0004t0008g0003a0001c0006t0007g0056a0001c0009t0005g0018others(22): Show | 25 | 80 | 0.3125 | 9 | c.952 others(28): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29725154 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02486.hp2 others(1): Show |
a0001a0005 | a0001c0025a0001c0050a0001c0051others(1): Show | a0001c0025t0011a0001c0050t0014a0001c0051t0001others(1): Show | a0001c0025t0011g0074a0001c0050t0014g0078a0001c0051t0001g0019others(1): Show | 4 | 80 | 0.0500 | 9 | c.668 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29831259 | G | GGAAGAAG others(2): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02145.hp1 HG03540.hp2 |
a0001a0002a0006 | a0001c0009a0002c0001a0006c0029 | a0001c0009t0005a0002c0001t0001a0006c0029t0001 | a0001c0009t0005g0018a0002c0001t0001g0061a0006c0029t0001g0016 | 3 | 80 | 0.0375 | 9 | c.667 others(28): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29876623 | T | TGGTGATG others(2): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 NA19043.hp2 |
a0001a0003 | a0001c0004a0001c0022a0003c0012 | a0001c0004t0008a0001c0022t0001a0003c0012t0002 | a0001c0004t0008g0003a0001c0022t0001g0007a0003c0012t0002g0067 | 3 | 80 | 0.0375 | 9 | c.667 others(28): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29926003 | G | GAGAAGAG others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(68): Show |
a0001a0002a0003others(5): Show | a0001c0004a0001c0006a0001c0009others(50): Show | a0001c0004t0001a0001c0004t0008a0001c0006t0001others(52): Show | a0001c0004t0001g0021a0001c0004t0001g0037a0001c0004t0008g0003others(68): Show | 71 | 80 | 0.8875 | 9 | c.-53 others(20): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4418 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3690296 | C | CCCTCCCC others(2): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01891.hp2 HG02004.hp1 others(6): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0002c0002t0002a0003c0003t0001others(1): Show | a0002c0002t0001g0064a0002c0002t0002g0054a0002c0002t0002g0144others(6): Show | 9 | 274 | 0.0329 | 9 | c.512 others(26): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALLC_chr2_3653200_3707671 | 3704585 | A | AGGGGCGT others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(201): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0012a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(192): Show | 204 | 274 | 0.7445 | 9 | c.*20 others(20): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1915 | chr2 | TogoVar |