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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AAMDC_chr11_77816144_77877352 | 77835472 | C | CAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(163): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(159): Show | 166 | 382 | 0.4346 | 2 | c.-18 others(19): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77838615 | C | CTT | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG01256.hp2 others(7): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0022a0001c0002t0001g0023a0001c0002t0001g0089others(7): Show | 10 | 382 | 0.0262 | 2 | c.-18 others(19): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77850953 | C | CTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(123): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(121): Show | 126 | 382 | 0.3298 | 2 | c.132 others(19): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77855720 | C | CTT | intron_variant | MODIFIER | HG01243.hp1 HG01256.hp1 HG02027.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0095a0001c0001t0001g0099a0001c0001t0001g0111others(32): Show | 35 | 382 | 0.0916 | 2 | c.132 others(21): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77858302 | C | CTT | intron_variant | MODIFIER | HG00733.hp1 HG02027.hp2 HG02723.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0002c0003t0001 | a0001c0001t0001g0127a0001c0001t0001g0131a0001c0001t0001g0132others(5): Show | 8 | 382 | 0.0209 | 2 | c.133 others(21): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77868058 | C | CTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(75): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0002t0001g0012a0001c0002t0001g0019a0001c0002t0001g0020others(73): Show | 78 | 382 | 0.2042 | 2 | c.133 others(19): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77869302 | A | ATC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(38): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0007a0001c0002t0002g0219a0001c0002t0002g0224others(37): Show | 41 | 382 | 0.1073 | 2 | c.133 others(17): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77869306 | C | CTT | intron_variant | MODIFIER | HG00639.hp2 HG01496.hp2 HG02055.hp2 others(22): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006a0001c0002t0002g0109a0001c0002t0002g0207others(21): Show | 25 | 382 | 0.0655 | 2 | c.133 others(17): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77869312 | C | CTT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(64): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0002c0003t0001a0002c0004t0001 | a0001c0002t0001g0012a0001c0002t0001g0019a0001c0002t0001g0020others(62): Show | 67 | 382 | 0.1754 | 2 | c.133 others(17): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77875041 | C | CAA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(50): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0004t0001 | a0002c0003t0001g0002a0002c0003t0001g0003a0002c0003t0001g0013others(48): Show | 53 | 382 | 0.1387 | 2 | c.*27 others(13): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2690 | chr11 | TogoVar | ||||||
AANAT_chr17_76462603_76475117 | 76463309 | C | CTT | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(108): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0005others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(8): Show | 111 | 426 | 0.2606 | 2 | c.-44 others(13): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 4293 | chr17 | TogoVar | ||||||
AANAT_chr17_76462603_76475117 | 76464799 | A | ATT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(153): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(8): Show | 156 | 426 | 0.3662 | 2 | c.-30 others(13): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 2803 | chr17 | TogoVar | ||||||
AANAT_chr17_76462603_76475117 | 76465344 | A | ATT | upstream_gene_variant | MODIFIER | HG01261.hp1 HG02055.hp1 HG02602.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0002t0001g0001 | 8 | 426 | 0.0188 | 2 | c.-24 others(13): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 2258 | chr17 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36232816 | C | CCT | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00642.hp2 others(40): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0005t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(31): Show | 43 | 298 | 0.1443 | 2 | c.-37 others(13): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 3661 | chr20 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36258142 | T | TAC | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp2 others(69): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0002others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(54): Show | 72 | 298 | 0.2416 | 2 | c.*23 others(13): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1210 | chr20 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36258834 | C | CAA | downstream_gene_variant | MODIFIER | HG01361.hp2 HG01433.hp1 HG01981.hp1 others(20): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0010others(17): Show | 23 | 298 | 0.0772 | 2 | c.*30 others(13): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1902 | chr20 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70248349 | C | CTG | downstream_gene_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(19): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0339others(19): Show | 22 | 362 | 0.0608 | 2 | c.*43 others(13): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 3948 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70249014 | T | TAA | downstream_gene_variant | MODIFIER | HG01123.hp1 HG01261.hp1 HG01496.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0095a0001c0002t0001g0177a0001c0002t0001g0211others(4): Show | 7 | 362 | 0.0193 | 2 | c.*37 others(13): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 3283 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70249397 | C | CAA | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02451.hp2 others(16): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0339others(16): Show | 19 | 362 | 0.0525 | 2 | c.*33 others(13): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2900 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70255194 | A | ATT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0067a0001c0001t0001g0072a0001c0001t0001g0073others(10): Show | 13 | 362 | 0.0359 | 2 | c.228 others(19): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 16/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70262967 | C | CAA | intron_variant | MODIFIER | HG01169.hp2 HG01358.hp1 HG01358.hp2 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0175a0001c0002t0001g0193a0001c0002t0001g0202others(10): Show | 13 | 362 | 0.0359 | 2 | c.149 others(19): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70269322 | G | GAA | intron_variant | MODIFIER | HG00597.hp2 HG01361.hp2 HG01496.hp2 others(19): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0005a0001c0003t0001 | a0001c0002t0001g0184a0001c0002t0001g0200a0001c0002t0001g0222others(19): Show | 22 | 362 | 0.0608 | 2 | c.962 others(17): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 7/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70272506 | C | CAA | intron_variant | MODIFIER | HG00597.hp2 HG00733.hp1 HG01255.hp2 others(28): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0154a0001c0002t0001g0163a0001c0002t0001g0183others(28): Show | 31 | 362 | 0.0856 | 2 | c.480 others(17): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70272889 | G | GAC | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG01081.hp1 others(24): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0004a0001c0003t0001 | a0001c0002t0001g0178a0001c0002t0001g0235a0001c0002t0001g0249others(24): Show | 27 | 362 | 0.0746 | 2 | c.480 others(17): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70273863 | C | CAA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(119): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(119): Show | 122 | 362 | 0.3370 | 2 | c.480 others(19): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70275936 | C | CAA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(123): Show |
a0001a0006a0007others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(123): Show | 126 | 362 | 0.3481 | 2 | c.479 others(17): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70279350 | C | CAA | intron_variant | MODIFIER | HG01433.hp2 HG02451.hp1 HG02486.hp2 others(6): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0001c0002t0004a0002c0004t0001 | a0001c0002t0001g0001a0001c0002t0001g0148a0001c0002t0004g0150others(5): Show | 9 | 362 | 0.0249 | 2 | c.145 others(19): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70279670 | C | CAA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(131): Show |
a0001a0006a0007others(2): Show | a0001c0001a0001c0007a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(131): Show | 134 | 362 | 0.3702 | 2 | c.145 others(19): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70282331 | G | GAA | intron_variant | MODIFIER | HG00597.hp1 HG01081.hp2 HG01952.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0040a0001c0001t0001g0071a0001c0001t0001g0107others(16): Show | 19 | 362 | 0.0525 | 2 | c.144 others(17): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70287254 | C | CAA | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00639.hp1 others(70): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(7): Show | a0001c0001t0001g0033a0001c0001t0001g0036a0001c0001t0001g0166others(70): Show | 73 | 362 | 0.2017 | 2 | c.-22 others(19): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70288098 | C | CTT | intron_variant | MODIFIER | HG00438.hp2 HG01071.hp2 HG01074.hp1 others(36): Show |
a0001a0002a0008 | a0001c0002a0001c0003a0001c0010others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0010t0001others(3): Show | a0001c0002t0001g0002a0001c0002t0001g0154a0001c0002t0001g0155others(35): Show | 39 | 362 | 0.1077 | 2 | c.-22 others(19): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70289738 | A | ACC | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01069.hp1 HG01192.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(1): Show | a0001c0001t0001g0023a0001c0001t0001g0057a0001c0001t0001g0166others(20): Show | 23 | 362 | 0.0635 | 2 | c.-34 others(11): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 233 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70289756 | C | CCG | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01081.hp1 HG01169.hp2 others(50): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0021others(50): Show | 53 | 362 | 0.1464 | 2 | c.-35 others(11): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 251 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70293597 | A | ATT | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG01106.hp1 others(24): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0101a0001c0001t0001g0138a0001c0001t0001g0166others(24): Show | 27 | 362 | 0.0746 | 2 | c.-42 others(13): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4092 | chr16 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44294772 | C | CAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(111): Show |
a0001a0013 | a0001c0001a0001c0002a0001c0017others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0023others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0020others(29): Show | 114 | 396 | 0.2879 | 2 | c.*57 others(13): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 3958 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44298911 | C | CTT | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(354): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0011others(14): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(78): Show | 357 | 396 | 0.9015 | 2 | c.*16 others(13): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 22/22 | 1635 | chr6 | TogoVar | |||||
AARS2_chr6_44293731_44318347 | 44313696 | C | CGT | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00544.hp1 others(74): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0018others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0015others(17): Show | 77 | 396 | 0.1944 | 2 | c.-37 others(11): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 350 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44317516 | G | GCC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(376): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0011others(18): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(33): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(90): Show | 379 | 396 | 0.9571 | 2 | c.-41 others(13): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 4170 | chr6 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42947862 | C | CAA | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG01109.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0003 | a0001c0001t0001a0002c0004t0001a0003c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(9): Show | 15 | 324 | 0.0463 | 2 | c.*27 others(13): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2663 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42955436 | C | CTT | intron_variant | MODIFIER | HG00140.hp1 HG01081.hp2 HG02602.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0075a0001c0001t0001g0076others(2): Show | 6 | 324 | 0.0185 | 2 | c.795 others(17): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 7/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42956966 | C | CTT | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02486.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0031a0001c0001t0001g0075a0001c0001t0001g0125others(6): Show | 13 | 324 | 0.0401 | 2 | c.389 others(17): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 4/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42957476 | C | CTT | intron_variant | MODIFIER | HG00438.hp2 HG02145.hp1 HG02273.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0060a0001c0001t0001g0064others(10): Show | 15 | 324 | 0.0463 | 2 | c.332 others(17): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42959196 | C | CAA | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00735.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0035others(7): Show | 13 | 324 | 0.0401 | 2 | c.331 others(19): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42965425 | C | CAA | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(118): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0004a0003c0003others(2): Show | a0001c0001t0001a0002c0004t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(65): Show | 121 | 324 | 0.3735 | 2 | c.-98 others(11): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 972 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42965447 | A | AAG | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(86): Show |
a0001a0006 | a0001c0001a0001c0008a0001c0010others(1): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(33): Show | 89 | 324 | 0.2747 | 2 | c.-10 others(13): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 994 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42965994 | C | CAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(74): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(41): Show | 77 | 324 | 0.2377 | 2 | c.-15 others(13): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 1541 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967271 | A | AAT | upstream_gene_variant | MODIFIER | HG01192.hp2 HG01256.hp1 HG02698.hp1 others(9): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0006c0009t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(2): Show | 12 | 324 | 0.0370 | 2 | c.-28 others(13): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2818 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967306 | A | AAT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(151): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0001c0010others(3): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(66): Show | 154 | 324 | 0.4753 | 2 | c.-28 others(13): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2853 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967439 | A | AAT | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01952.hp2 HG02015.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0011others(4): Show | 9 | 324 | 0.0278 | 2 | c.-30 others(13): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2986 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967450 | A | ATT | upstream_gene_variant | MODIFIER | HG02683.hp1 NA18951.hp1 NA18951.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0059others(1): Show | 5 | 324 | 0.0154 | 2 | c.-30 others(13): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2997 | chr17 | TogoVar |