view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A2ML1_chr12_8817621_8881787 | 8840978 | A | AGAAGGAA others(17): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01884.hp2 HG02738.hp1 others(2): Show |
a0001a0002a0007 | a0001c0001a0002c0004a0002c0007others(1): Show | a0001c0001t0001a0002c0004t0003a0002c0007t0003others(1): Show | a0001c0001t0001g0046 a0002c0004t0003g0083 a0002c0007t0003g0084 others(2): Show |
5 | 268 | 0.0187 | 24 | c.108 others(41): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8841009 | A | AGGAAGGA others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp1 others(59): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0053 others(59): Show |
62 | 169 | 0.3669 | 24 | c.108 others(41): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8841009 | A | AGGAAGGA others(17): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0268 | 1 | 108 | 0.0093 | 24 | c.108 others(41): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42703106 | C | CTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02630.hp1 HG02809.hp1 others(2): Show |
a0002a0004 | a0002c0003a0004c0005 | a0002c0003t0001a0004c0005t0010 | a0002c0003t0001g0337 a0002c0003t0001g0361 a0002c0003t0001g0370 others(2): Show |
5 | 16 | 0.3125 | 24 | c.-18 others(43): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42708545 | A | AGAAGGAA others(17): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00673.hp2 others(38): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0026a0001c0002t0003others(4): Show | a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 others(37): Show |
41 | 114 | 0.3596 | 24 | c.-18 others(45): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42708573 | G | GGAAGGAA others(17): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 | 1 | 404 | 0.0025 | 24 | c.-18 others(45): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
AADACL2_chr3_151728927_151766339 | 151731938 | G | GAGATAGA others(17): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00621.hp2 others(24): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0058 a0001c0001t0002g0130 a0001c0001t0002g0137 others(14): Show |
27 | 120 | 0.2250 | 24 | c.-20 others(35): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 1988 | chr3 | TogoVar | |||||||
AADACL4_chr1_12639085_12672076 | 12648346 | A | ATCCATCC others(17): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 174 | 0.0057 | 24 | c.169 others(41): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12648388 | C | CCTTCCTT others(17): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 a0001c0001t0002g0061 |
2 | 284 | 0.0070 | 24 | c.169 others(41): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67222242 | G | GCACACAC others(17): Show |
intron_variant | MODIFIER | HG02083.hp2 NA19062.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0137 a0002c0002t0003g0173 |
2 | 245 | 0.0082 | 24 | c.535 others(41): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67222242 | G | GCGCACGC others(17): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0141 | 1 | 244 | 0.0041 | 24 | c.535 others(41): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67222242 | G | GCGCGCGC others(17): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0123 | 1 | 244 | 0.0041 | 24 | c.535 others(41): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67222282 | A | ACACACAC others(17): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01175.hp2 NA18982.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0024 a0002c0002t0003g0160 a0002c0002t0003g0166 others(4): Show |
7 | 277 | 0.0253 | 24 | c.535 others(41): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67222282 | A | ACACACAC others(17): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0196 | 1 | 271 | 0.0037 | 24 | c.535 others(41): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69493158 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03098.hp2 HG03486.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0005a0002c0023 | a0001c0003t0026a0002c0005t0118a0002c0005t0145others(1): Show | a0001c0003t0026g0014 a0002c0005t0118g0183 a0002c0005t0145g0281 others(1): Show |
4 | 73 | 0.0548 | 24 | c.236 others(43): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69500664 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0024 | a0002c0024t0004 | a0002c0024t0004g0260 | 1 | 177 | 0.0056 | 24 | c.227 others(43): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69500698 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | NA19066.hp1 NA19078.hp1 |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0019 | a0002c0002t0006g0256 a0002c0002t0019g0149 |
2 | 97 | 0.0206 | 24 | c.227 others(43): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69500698 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0002 | a0002c0002 | a0002c0002t0047 | a0002c0002t0047g0046 | 1 | 96 | 0.0104 | 24 | c.227 others(43): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
AAR2_chr20_36231478_36261933 | 36232816 | C | CCTCTCTC others(17): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0031 | 1 | 148 | 0.0068 | 24 | c.-37 others(35): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 3661 | chr20 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70280105 | C | CAATTTTT others(17): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 360 | 0.0028 | 24 | c.144 others(41): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70289747 | C | CCCGCCCC others(17): Show |
upstream_gene_variant | MODIFIER | HG02735.hp1 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0101 |
2 | 343 | 0.0058 | 24 | c.-34 others(33): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 242 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70289756 | C | CCGCCCCC others(17): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0265 | 1 | 286 | 0.0035 | 24 | c.-35 others(33): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 251 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70289756 | C | CCGCCCCC others(17): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 286 | 0.0035 | 24 | c.-35 others(33): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 251 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70289766 | C | CCCCGCCC others(17): Show |
upstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 360 | 0.0028 | 24 | c.-36 others(33): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 261 | chr16 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56381649 | T | TCTCACAC others(17): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 NA18964.hp1 others(1): Show |
a0002a0007 | a0002c0002a0007c0009 | a0002c0002t0001a0007c0009t0004 | a0002c0002t0001g0122 a0002c0002t0001g0123 a0007c0009t0004g0029 |
4 | 124 | 0.0323 | 24 | c.351 others(39): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | chr4 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 37001405 | G | GAGGGAGG others(17): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0138 | 1 | 116 | 0.0086 | 24 | c.139 others(45): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8710717 | A | AGGGAGAG others(17): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0098 | 1 | 295 | 0.0034 | 24 | c.-41 others(43): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8710727 | A | AGAGAGAG others(17): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 102 | 0.0098 | 24 | c.-41 others(43): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8710727 | A | AGAGAGAG others(17): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00673.hp2 HG01496.hp1 others(22): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0022others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(14): Show | a0001c0001t0001g0068 a0001c0001t0001g0194 a0001c0001t0001g0278 others(22): Show |
25 | 126 | 0.1984 | 24 | c.-41 others(43): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8711810 | G | GGATGGAT others(17): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0007 | a0002c0007t0013 | a0002c0007t0013g0024 | 1 | 102 | 0.0098 | 24 | c.-41 others(43): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737989 | G | GAAGAAAG others(17): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02922.hp2 |
a0002 | a0002c0007 | a0002c0007t0013a0002c0007t0018 | a0002c0007t0013g0024 a0002c0007t0018g0312 |
2 | 73 | 0.0274 | 24 | c.70+ others(39): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737989 | G | GAAGGAAG others(17): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0097 | 1 | 72 | 0.0139 | 24 | c.70+ others(39): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737989 | G | GAAGGAAG others(17): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01496.hp1 |
a0002 | a0002c0005a0002c0006 | a0002c0005t0001a0002c0006t0003 | a0002c0005t0001g0218 a0002c0006t0003g0022 |
2 | 73 | 0.0274 | 24 | c.70+ others(39): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737989 | G | GAAGGAAG others(17): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0003 | a0001c0003t0036 | a0001c0003t0036g0150 | 1 | 72 | 0.0139 | 24 | c.70+ others(39): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743423 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0293 | 1 | 274 | 0.0036 | 24 | c.71- others(39): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743441 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0236 | 1 | 348 | 0.0029 | 24 | c.71- others(39): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743444 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG01243.hp1 others(9): Show |
a0002 | a0002c0002a0002c0004a0002c0012others(1): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0006others(7): Show | a0002c0002t0002g0018 a0002c0002t0002g0177 a0002c0002t0003g0095 others(9): Show |
12 | 110 | 0.1091 | 24 | c.71- others(39): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69162838 | C | CATATACA others(17): Show |
intron_variant | MODIFIER | HG02083.hp1 HG04184.hp1 HG04228.hp2 others(6): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0004c0004t0003 | a0002c0002t0001g0002 a0002c0002t0001g0065 a0002c0002t0001g0098 others(5): Show |
9 | 165 | 0.0545 | 24 | c.336 others(43): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 27/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69210170 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02486.hp2 HG03130.hp2 |
a0005a0006 | a0005c0005a0006c0007 | a0005c0005t0004a0005c0005t0015a0006c0007t0004 | a0005c0005t0004g0200 a0005c0005t0015g0218 a0006c0007t0004g0186 |
3 | 178 | 0.0169 | 24 | c.100 others(43): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69210847 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG02148.hp2 HG02886.hp1 HG02965.hp2 others(3): Show |
a0004a0005 | a0004c0004a0004c0006a0005c0013 | a0004c0004t0003a0004c0006t0003a0005c0013t0001 | a0004c0004t0003g0208 a0004c0004t0003g0243 a0004c0004t0003g0256 others(3): Show |
6 | 249 | 0.0241 | 24 | c.100 others(43): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69227114 | G | GATATATA others(17): Show |
intron_variant | MODIFIER | NA18974.hp2 NA18975.hp2 NA19086.hp2 |
a0002a0004 | a0002c0002a0004c0006 | a0002c0002t0001a0004c0006t0003 | a0002c0002t0001g0035 a0004c0006t0003g0036 a0004c0006t0003g0037 |
3 | 206 | 0.0146 | 24 | c.-17 others(39): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 2/38 | chr17 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214989183 | C | CATACATA others(17): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG01975.hp2 others(1): Show |
a0001a0002a0003 | a0001c0010a0002c0027a0003c0066 | a0001c0010t0009a0002c0027t0003a0003c0066t0004 | a0001c0010t0009g0001 a0002c0027t0003g0073 a0002c0027t0003g0074 others(1): Show |
4 | 196 | 0.0204 | 24 | c.382 others(41): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 26/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214989187 | C | CATACATA others(17): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0171 | 1 | 25 | 0.0400 | 24 | c.382 others(41): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 26/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214989187 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01074.hp2 others(43): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0012a0001c0002t0001a0001c0003t0001others(31): Show | a0001c0001t0012g0192 a0001c0002t0001g0027 a0001c0002t0001g0028 others(43): Show |
46 | 70 | 0.6571 | 24 | c.382 others(41): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 26/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215065297 | T | TAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0022 | a0001c0022t0006 | a0001c0022t0006g0112 | 1 | 28 | 0.0357 | 24 | c.164 others(41): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215134648 | G | GAGAGAGA others(17): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0006 | a0006c0062 | a0006c0062t0004 | a0006c0062t0004g0078 | 1 | 190 | 0.0053 | 24 | c.69+ others(39): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48341351 | T | TTCCTAGG others(17): Show |
intron_variant | MODIFIER | HG01123.hp2 NA19030.hp1 |
a0007a0018 | a0007c0102a0018c0026 | a0007c0102t0001a0018c0026t0001 | a0007c0102t0001g0020 a0018c0026t0001g0057 |
2 | 176 | 0.0114 | 24 | c.102 others(45): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 29/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48401744 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG02280.hp1 NA19060.hp1 |
a0012a0046 | a0012c0012a0046c0067 | a0012c0012t0002a0046c0067t0009 | a0012c0012t0002g0098 a0046c0067t0009g0144 |
2 | 77 | 0.0260 | 24 | c.118 others(45): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 38/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48637381 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0075 | a0075c0048 | a0075c0048t0004 | a0075c0048t0004g0159 | 1 | 53 | 0.0189 | 24 | c.148 others(45): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104794749 | G | GTATGGAG others(17): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0011 | a0002c0011t0004 | a0002c0011t0004g0113 | 1 | 316 | 0.0032 | 24 | c.538 others(41): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 39/49 | chr9 | TogoVar |