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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASTN1_chr1_176856067_177169712 | 177008479 | G | GAGGAAGA others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00642.hp1 others(56): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0018a0001c0002t0001a0001c0002t0002others(25): Show | a0001c0001t0018g0053 a0001c0002t0001g0008 a0001c0002t0002g0054 others(56): Show |
59 | 110 | 0.5364 | 20 | c.152 others(39): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116462787 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0008 | 1 | 93 | 0.0108 | 20 | c.349 others(41): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 20/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116490272 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0043 | 1 | 17 | 0.0588 | 20 | c.335 others(39): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116565387 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02004.hp1 NA19012.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0010 | a0001c0002t0003g0094 a0001c0002t0010g0063 |
2 | 63 | 0.0317 | 20 | c.335 others(41): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116565387 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0074 | 1 | 62 | 0.0161 | 20 | c.335 others(41): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116586812 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0074 | 1 | 84 | 0.0119 | 20 | c.335 others(41): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116586825 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 70 | 0.0143 | 20 | c.335 others(41): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116632252 | G | GGAAAGAA others(13): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 25 | 0.0400 | 20 | c.307 others(41): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 17/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116642132 | C | CCAAAAAA others(13): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 24 | 0.0417 | 20 | c.307 others(39): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 17/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116718972 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0060 | 1 | 29 | 0.0345 | 20 | c.280 others(39): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 16/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116718972 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01891.hp1 NA18906.hp2 NA20300.hp1 |
a0001a0002 | a0001c0001a0001c0012a0002c0004 | a0001c0001t0016a0001c0012t0001a0002c0004t0005 | a0001c0001t0016g0075 a0001c0012t0001g0098 a0002c0004t0005g0006 |
3 | 31 | 0.0968 | 20 | c.280 others(39): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 16/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116790929 | T | TGAAAGAA others(13): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0006 | a0006c0020 | a0006c0020t0001 | a0006c0020t0001g0039 | 1 | 86 | 0.0116 | 20 | c.239 others(41): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116816896 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01169.hp1 others(15): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(12): Show | a0001c0001t0001g0034 a0001c0001t0001g0053 a0001c0001t0003g0062 others(15): Show |
18 | 25 | 0.7200 | 20 | c.220 others(39): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 12/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116832940 | T | TTTTATTT others(13): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01169.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(17): Show | a0001c0001t0005g0077 a0001c0001t0005g0096 a0001c0001t0006g0079 others(21): Show |
24 | 85 | 0.2824 | 20 | c.204 others(41): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117003530 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02572.hp2 NA20300.hp2 |
a0001 | a0001c0001a0001c0009a0001c0011 | a0001c0001t0016a0001c0009t0008a0001c0011t0004 | a0001c0001t0016g0075 a0001c0009t0008g0088 a0001c0011t0004g0097 |
3 | 8 | 0.3750 | 20 | c.159 others(39): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 7/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117003951 | C | CGTGCGCG others(13): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0071 | 1 | 99 | 0.0101 | 20 | c.159 others(39): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 7/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117003953 | C | CGCGCGCG others(13): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 78 | 0.0128 | 20 | c.159 others(39): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 7/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117045975 | T | TGTACGTA others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01099.hp1 others(6): Show |
a0001 | a0001c0002a0001c0005a0001c0009others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(3): Show | a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0001g0093 others(6): Show |
9 | 70 | 0.1286 | 20 | c.127 others(39): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117060585 | C | CAGGCAGG others(13): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0014 | a0001c0014t0017 | a0001c0014t0017g0049 | 1 | 58 | 0.0172 | 20 | c.127 others(41): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117060585 | C | CAGGCAGG others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG03017.hp2 NA19011.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0022others(1): Show | a0001c0001t0003a0001c0002t0002a0001c0022t0001others(1): Show | a0001c0001t0003g0062 a0001c0002t0002g0058 a0001c0022t0001g0020 others(1): Show |
4 | 61 | 0.0656 | 20 | c.127 others(41): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117108438 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0021 | 1 | 18 | 0.0556 | 20 | c.116 others(41): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117116037 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG01258.hp2 HG02559.hp2 HG03239.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0002t0008others(1): Show | a0001c0001t0002g0070 a0001c0002t0001g0067 a0001c0002t0008g0024 others(1): Show |
4 | 42 | 0.0952 | 20 | c.116 others(41): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117120018 | G | GTATGTAT others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 | 1 | 40 | 0.0250 | 20 | c.116 others(41): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117120018 | G | GTGTGTAT others(13): Show |
intron_variant | MODIFIER | NA19011.hp2 NA21309.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0005t0005 | a0001c0002t0002g0058 a0001c0005t0005g0047 |
2 | 41 | 0.0488 | 20 | c.116 others(41): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117120049 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0082 | 1 | 89 | 0.0112 | 20 | c.116 others(41): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117225535 | G | GTATGTAT others(13): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03017.hp1 HG03041.hp2 |
a0001a0005 | a0001c0001a0005c0024 | a0001c0001t0006a0001c0001t0011a0005c0024t0013 | a0001c0001t0006g0014 a0001c0001t0011g0002 a0005c0024t0013g0101 |
3 | 21 | 0.1429 | 20 | c.631 others(39): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 2/22 | chr9 | TogoVar | |||||||
ASXL1_chr20_32353331_32444319 | 32377972 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00642.hp2 others(37): Show |
a0001a0003a0010 | a0001c0002a0003c0004a0010c0015 | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(2): Show | a0001c0002t0001g0240 a0001c0002t0002g0024 a0001c0002t0002g0026 others(37): Show |
40 | 117 | 0.3419 | 20 | c.252 others(37): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32378158 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02895.hp1 |
a0001 | a0001c0005a0001c0008 | a0001c0005t0001a0001c0008t0001 | a0001c0005t0001g0185 a0001c0008t0001g0085 |
2 | 91 | 0.0220 | 20 | c.252 others(37): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25807986 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02257.hp2 HG02559.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0101 others(3): Show |
6 | 39 | 0.1538 | 20 | c.144 others(37): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25849064 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 a0001c0001t0001g0139 |
2 | 11 | 0.1818 | 20 | c.58- others(35): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ASXL3_chr18_33573219_33756195 | 33590111 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG04204.hp2 NA18994.hp2 |
a0001 | a0001c0001a0001c0020 | a0001c0001t0002a0001c0020t0001 | a0001c0001t0002g0166 a0001c0020t0001g0154 |
2 | 145 | 0.0138 | 20 | c.54+ others(37): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33652603 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0167 | 1 | 79 | 0.0127 | 20 | c.355 others(37): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33676222 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 86 | 0.0116 | 20 | c.715 others(37): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASZ1_chr7_117358222_117432493 | 117379168 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 | 1 | 134 | 0.0075 | 20 | c.105 others(37): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 10/12 | chr7 | TogoVar | |||||||
ATAD1_chr10_87746512_87823226 | 87811334 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01175.hp2 HG01884.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0114 a0001c0001t0003g0066 a0001c0001t0003g0067 others(1): Show |
4 | 269 | 0.0149 | 20 | c.162 others(37): Show |
ATAD1 | ENSG00000138138.14 | transcript | ENST00000680024.1 | protein_coding | 2/9 | chr10 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23745368 | A | AGAAGGAA others(13): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01255.hp1 HG03540.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0207 others(3): Show |
6 | 99 | 0.0606 | 20 | c.*66 others(31): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 3295 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23745422 | A | AAAGGGAA others(13): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 HG01433.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0012 | a0001c0002t0003g0240 a0001c0002t0012g0233 |
2 | 176 | 0.0114 | 20 | c.*66 others(31): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 3241 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23878024 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0099 | 1 | 244 | 0.0041 | 20 | c.902 others(37): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 7/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23878025 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA18612.hp1 NA19003.hp2 NA19006.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0058 a0001c0001t0005g0091 a0001c0001t0005g0092 |
3 | 192 | 0.0156 | 20 | c.902 others(37): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 7/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23878025 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 190 | 0.0053 | 20 | c.902 others(37): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 7/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23878025 | A | AAAAAGAA others(13): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 190 | 0.0053 | 20 | c.902 others(37): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 7/27 | chr2 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23903237 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02135.hp1 HG02165.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003a0001c0002t0007 | a0001c0001t0003g0007 a0001c0002t0003g0229 a0001c0002t0003g0230 others(7): Show |
10 | 92 | 0.1087 | 20 | c.217 others(37): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ATAD2_chr8_123314850_123401447 | 123377091 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0131 a0001c0002t0003g0009 |
2 | 48 | 0.0417 | 20 | c.320 others(37): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 2/27 | chr8 | TogoVar | |||||||
ATAD2_chr8_123314850_123401447 | 123381498 | C | CACAAAAC others(13): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02647.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0251 a0002c0003t0001g0255 |
2 | 259 | 0.0077 | 20 | c.172 others(35): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 1/27 | chr8 | TogoVar | |||||||
ATAD3B_chr1_1466765_1502848 | 1469099 | T | TAAAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 HG03540.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0061 a0002c0002t0002g0062 |
2 | 44 | 0.0455 | 20 | c.-27 others(31): Show |
ATAD3B | ENSG00000160072.20 | transcript | ENST00000673477.1 | protein_coding | 2665 | chr1 | TogoVar | |||||||
ATAD3C_chr1_1444689_1475163 | 1469099 | T | TAAAAAAA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG02615.hp2 HG03540.hp1 NA18940.hp2 |
a0001 | a0001c0001a0001c0023a0001c0040 | a0001c0001t0138a0001c0023t0073a0001c0040t0153 | a0001c0001t0138g0037 a0001c0023t0073g0192 a0001c0040t0153g0247 |
3 | 50 | 0.0600 | 20 | c.*58 others(29): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 12/12 | 607 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATAD5_chr17_30826966_30900869 | 30874607 | C | CTATTTAT others(13): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03041.hp2 |
a0004 | a0004c0003 | a0004c0003t0004 | a0004c0003t0004g0097 a0004c0003t0004g0098 |
2 | 119 | 0.0168 | 20 | c.360 others(39): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ATAT1_chr6_30621874_30651821 | 30641106 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18980.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0060 a0001c0002t0001g0063 |
2 | 386 | 0.0052 | 20 | c.652 others(35): Show |
ATAT1 | ENSG00000137343.18 | transcript | ENST00000376485.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ATAT1_chr6_30621874_30651821 | 30650700 | T | TGCACATT others(13): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 404 | 0.0025 | 20 | c.*40 others(31): Show |
ATAT1 | ENSG00000137343.18 | transcript | ENST00000376485.9 | protein_coding | 3880 | chr6 | TogoVar | |||||||
ATCAY_chr19_3875685_3933082 | 3884286 | C | CTAAATAA others(13): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0378 | 1 | 357 | 0.0028 | 20 | c.-41 others(37): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |