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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0114 others(32): Show |
35 | 40 | 0.8750 | 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 | a0001c0001t0001g0122 a0001c0001t0001g0134 a0001c0001t0001g0135 others(5): Show |
8 | 204 | 0.0392 | 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 | a0001c0002t0001g0017 a0001c0002t0001g0023 a0001c0002t0001g0025 others(72): Show |
78 | 295 | 0.2644 | 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 | a0001c0002t0002g0010 a0001c0002t0002g0217 a0001c0002t0002g0222 others(37): Show |
41 | 380 | 0.1079 | 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 | a0001c0002t0002g0009 a0001c0002t0002g0112 a0001c0002t0002g0205 others(21): Show |
25 | 372 | 0.0672 | 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 | a0001c0002t0001g0017 a0001c0002t0001g0023 a0001c0002t0001g0025 others(61): Show |
67 | 259 | 0.2587 | 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 | a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0005 others(47): Show |
53 | 348 | 0.1523 | 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 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(8): Show |
111 | 126 | 0.8810 | 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(152): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(7): Show |
155 | 407 | 0.3808 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0002t0001g0001 |
8 | 111 | 0.0721 | 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 |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0005t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(28): Show |
43 | 190 | 0.2263 | 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(68): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0002others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(43): Show |
71 | 104 | 0.6827 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(16): Show |
23 | 217 | 0.1060 | 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 |
a0002a0009 | a0002c0004a0009c0009 | a0002c0004t0001a0009c0009t0001 | a0002c0004t0001g0333 a0002c0004t0001g0335 a0002c0004t0001g0338 others(19): Show |
22 | 360 | 0.0611 | 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 | a0001c0001t0001g0091 a0001c0002t0001g0171 a0001c0002t0001g0243 others(4): Show |
7 | 232 | 0.0302 | 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 |
a0002a0009 | a0002c0004a0009c0009 | a0002c0004t0001a0009c0009t0001 | a0002c0004t0001g0333 a0002c0004t0001g0335 a0002c0004t0001g0338 others(16): Show |
19 | 341 | 0.0557 | 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 | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0090 others(10): Show |
13 | 201 | 0.0647 | 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 | a0001c0002t0001g0163 a0001c0002t0001g0195 a0001c0002t0001g0203 others(10): Show |
13 | 89 | 0.1461 | 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 | a0001c0002t0001g0193 a0001c0002t0001g0195 a0001c0002t0001g0207 others(19): Show |
22 | 59 | 0.3729 | 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 | a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0184 others(28): Show |
31 | 147 | 0.2109 | 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 | a0001c0002t0001g0175 a0001c0002t0001g0217 a0001c0002t0001g0236 others(24): Show |
27 | 120 | 0.2250 | 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 |
a0001a0002a0008others(2): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(8): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 others(119): Show |
122 | 294 | 0.4150 | 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 |
a0001a0007a0008others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 others(123): Show |
126 | 266 | 0.4737 | 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 | a0001c0002t0001g0002 a0001c0002t0001g0149 a0001c0002t0004g0151 others(5): Show |
9 | 163 | 0.0552 | 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(130): Show |
a0001a0007a0008others(2): Show | a0001c0001a0001c0007a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 others(130): Show |
133 | 321 | 0.4143 | 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 | a0001c0001t0001g0039 a0001c0001t0001g0107 a0001c0001t0001g0113 others(16): Show |
19 | 39 | 0.4872 | 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 | a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0182 others(70): Show |
73 | 142 | 0.5141 | 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 |
a0001a0002a0005 | a0001c0002a0001c0003a0001c0010others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0010t0001others(3): Show | a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0172 others(35): Show |
39 | 136 | 0.2868 | 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 | a0001c0001t0001g0023 a0001c0001t0001g0058 a0001c0001t0001g0182 others(20): Show |
23 | 242 | 0.0950 | 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 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0021 others(50): Show |
53 | 338 | 0.1568 | 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 |
a0001a0002a0009 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0098 a0001c0001t0001g0139 a0001c0001t0001g0182 others(24): Show |
27 | 116 | 0.2328 | 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 | a0001c0001t0001a0001c0001t0005a0001c0001t0024others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0020 others(29): Show |
114 | 204 | 0.5588 | 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(353): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0011others(14): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(28): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(77): Show |
356 | 394 | 0.9036 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0015 others(17): Show |
77 | 327 | 0.2355 | 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(375): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0011others(18): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(33): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(89): Show |
378 | 394 | 0.9594 | 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 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0002c0003t0001a0003c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(9): Show |
15 | 137 | 0.1095 | 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 | a0001c0001t0001g0027 a0001c0001t0001g0075 a0001c0001t0001g0076 others(2): Show |
6 | 214 | 0.0280 | 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 | a0001c0001t0001g0031 a0001c0001t0001g0075 a0001c0001t0001g0125 others(6): Show |
13 | 34 | 0.3824 | 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 | a0001c0001t0001g0017 a0001c0001t0001g0060 a0001c0001t0001g0064 others(10): Show |
15 | 81 | 0.1852 | 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 | a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0035 others(7): Show |
13 | 204 | 0.0637 | 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 | a0001c0001a0002c0003a0003c0004others(2): Show | a0001c0001t0001a0002c0003t0001a0003c0004t0001others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(65): Show |
121 | 257 | 0.4708 | 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(85): Show |
a0001a0006 | a0001c0001a0001c0008a0001c0010others(1): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(33): Show |
88 | 291 | 0.3024 | 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(73): Show |
a0001a0006a0008 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(41): Show |
76 | 115 | 0.6609 | 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(8): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0006c0009t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0018 others(2): Show |
11 | 322 | 0.0342 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(66): Show |
154 | 321 | 0.4798 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 others(4): Show |
9 | 209 | 0.0431 | 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 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0059 others(1): Show |
5 | 289 | 0.0173 | 2 | c.-30 others(13): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2997 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967452 | T | TTA | upstream_gene_variant | MODIFIER | HG01993.hp1 HG02922.hp2 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0120 |
3 | 194 | 0.0155 | 2 | c.-30 others(13): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2999 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967513 | A | ATT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(134): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0010others(4): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(59): Show |
137 | 279 | 0.4910 | 2 | c.-30 others(13): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3060 | chr17 | TogoVar | |||||||
AASDHPPT_chr11_106072662_106103695 | 106073258 | C | CTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(160): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(49): Show |
163 | 324 | 0.5031 | 2 | c.-44 others(13): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 4403 | chr11 | TogoVar |