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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AAGAB_chr15_67195667_67259661 | 67222282 | A | ACACACAC others(22): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18963.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0165 a0002c0002t0003g0182 |
2 | 272 | 0.0074 | 29 | c.535 others(46): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69493158 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01099.hp2 HG02451.hp1 others(1): Show |
a0001a0002 | a0001c0003a0001c0006a0002c0002 | a0001c0003t0026a0001c0006t0037a0002c0002t0019others(1): Show | a0001c0003t0026g0015 a0001c0006t0037g0009 a0002c0002t0019g0143 others(1): Show |
4 | 73 | 0.0548 | 29 | c.236 others(48): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70293597 | A | ATTTTTTT others(22): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0054 |
2 | 91 | 0.0220 | 29 | c.-41 others(40): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4092 | chr16 | TogoVar | |||||||
AASS_chr7_122068549_122149249 | 122140485 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0065 | 1 | 93 | 0.0108 | 29 | c.-16 others(46): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69210170 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0217 | 1 | 176 | 0.0057 | 29 | c.100 others(48): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1049880 | C | CGACCACT others(22): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0021 | 1 | 18 | 0.0556 | 29 | c.255 others(46): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 169017128 | A | AACATTTC others(22): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00558.hp2 others(69): Show |
a0001a0002a0003others(6): Show | a0001c0005a0001c0006a0001c0007others(30): Show | a0001c0005t0001a0001c0005t0010a0001c0005t0017others(45): Show | a0001c0005t0001g0200 a0001c0005t0001g0202 a0001c0005t0001g0209 others(69): Show |
72 | 303 | 0.2376 | 29 | c.77- others(42): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 169017128 | A | AACGTTTC others(22): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0025 | a0002c0025t0004 | a0002c0025t0004g0230 | 1 | 232 | 0.0043 | 29 | c.77- others(42): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15999809 | C | CTCTCTCT others(22): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0032 | a0001c0032t0007 | a0001c0032t0007g0229 | 1 | 81 | 0.0123 | 29 | c.49- others(44): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 16143530 | C | CTTTTTTT others(22): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 HG04115.hp2 |
a0001 | a0001c0004a0001c0032 | a0001c0004t0002a0001c0032t0007 | a0001c0004t0002g0202 a0001c0032t0007g0229 |
2 | 49 | 0.0408 | 29 | c.*22 others(40): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 478 | chr16 | TogoVar | |||||||
ABCC3_chr17_50629881_50697253 | 50674034 | C | CTTCTTTC others(22): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 102 | 0.0098 | 29 | c.259 others(46): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50674075 | T | TCTTTCTT others(22): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 339 | 0.0029 | 29 | c.259 others(46): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | chr17 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21915514 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01496.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 a0001c0001t0001g0085 |
2 | 39 | 0.0513 | 29 | c.816 others(44): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 7/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21915514 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 38 | 0.0263 | 29 | c.816 others(44): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 7/39 | chr12 | TogoVar | |||||||
ABCD2_chr12_39545033_39624803 | 39615198 | C | CCCCCCCC others(22): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 338 | 0.0030 | 29 | c.112 others(48): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 2/9 | chr12 | TogoVar | |||||||
ABCD4_chr14_74280269_74307934 | 74306173 | T | TATATATA others(22): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0007 | a0007c0007 | a0007c0007t0011 | a0007c0007t0011g0048 | 1 | 374 | 0.0027 | 29 | c.-32 others(40): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3240 | chr14 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG02523.hp1 NA18968.hp1 NA19062.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0253 a0001c0003t0002g0256 a0001c0003t0002g0264 others(2): Show |
5 | 97 | 0.0515 | 29 | c.422 others(44): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG03453.hp2 NA18985.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0003 a0001c0003t0002g0279 |
2 | 94 | 0.0213 | 29 | c.422 others(44): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
ABHD17A_chr19_1871810_1890496 | 1886140 | A | ACCTCCTA others(22): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 414 | 0.0024 | 29 | c.-10 others(40): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 645 | chr19 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80705333 | T | TTTGTGTG others(22): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02735.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0107 a0001c0001t0004g0106 a0001c0001t0004g0108 |
3 | 30 | 0.1000 | 29 | c.590 others(46): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26773215 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | NA18978.hp2 NA18985.hp1 NA19005.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 a0001c0001t0001g0120 a0001c0001t0001g0136 others(5): Show |
8 | 126 | 0.0635 | 29 | c.463 others(46): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100894938 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0012 | a0012c0047 | a0012c0047t0010 | a0012c0047t0010g0133 | 1 | 48 | 0.0208 | 29 | c.461 others(46): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 4/67 | chr3 | TogoVar | |||||||
ABL2_chr1_179094330_179234677 | 179101996 | C | CTTTTTTT others(22): Show |
3_prime_UTR_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0019 | 1 | 34 | 0.0294 | 29 | c.*56 others(40): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 12/12 | 5721 | chr1 | TogoVar | ||||||
ABLIM2_chr4_7960327_8163813 | 8034474 | T | TGGTAGGT others(22): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0265 | 1 | 206 | 0.0049 | 29 | c.104 others(48): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 10/20 | chr4 | TogoVar | |||||||
ABLIM3_chr5_149136493_149265542 | 149169085 | A | ACCCCTCA others(22): Show |
intron_variant | MODIFIER | HG00673.hp1 NA18747.hp2 NA18942.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0052 a0001c0001t0001g0081 a0001c0001t0001g0150 others(9): Show |
12 | 239 | 0.0502 | 29 | c.14- others(46): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1023098 | T | TCTGCCGG others(22): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(102): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0060 a0001c0001t0001g0089 a0001c0001t0001g0123 others(102): Show |
105 | 321 | 0.3271 | 29 | c.179 others(48): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1023116 | A | ACTGCAGA others(22): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02723.hp1 |
a0001 | a0001c0003 | a0001c0003t0051a0001c0003t0082 | a0001c0003t0051g0105 a0001c0003t0082g0286 |
2 | 336 | 0.0060 | 29 | c.179 others(48): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1023119 | A | ACAGCGCC others(22): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0007 | 1 | 166 | 0.0060 | 29 | c.179 others(48): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1031890 | C | CCCTCCCT others(22): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0324 | 1 | 336 | 0.0030 | 29 | c.179 others(50): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1117161 | C | CTGAGCCT others(22): Show |
intron_variant | MODIFIER | HG01109.hp2 NA20300.hp1 |
a0001 | a0001c0003 | a0001c0003t0012a0001c0003t0082 | a0001c0003t0012g0118 a0001c0003t0082g0286 |
2 | 316 | 0.0063 | 29 | c.246 others(46): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1117434 | T | TTCCTCCC others(22): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01891.hp2 HG02486.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0011a0001c0001t0014a0001c0001t0027others(4): Show | a0001c0001t0011g0238 a0001c0001t0014g0096 a0001c0001t0027g0038 others(4): Show |
7 | 335 | 0.0209 | 29 | c.246 others(46): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1117493 | C | CCTTCCCA others(22): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG01358.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009 | a0001c0001t0002g0083 a0001c0001t0002g0094 a0001c0001t0002g0150 others(3): Show |
6 | 114 | 0.0526 | 29 | c.246 others(46): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1117493 | C | CCTTCCCA others(22): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18995.hp1 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0032 | a0001c0001t0002g0151 a0001c0001t0010g0262 a0001c0001t0032g0260 |
3 | 111 | 0.0270 | 29 | c.246 others(46): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1117543 | A | ACCCGAGT others(22): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0104 | 1 | 32 | 0.0313 | 29 | c.246 others(46): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1117625 | C | CCTGAGCC others(22): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03516.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0053a0001c0003t0051 | a0001c0002t0053g0069 a0001c0003t0051g0105 |
2 | 335 | 0.0060 | 29 | c.246 others(46): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1117729 | C | CCCCAGCT others(22): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0284 | 1 | 86 | 0.0116 | 29 | c.246 others(46): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1117902 | C | CTCCCAGT others(22): Show |
intron_variant | MODIFIER | HG04184.hp2 NA18954.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0089 |
2 | 303 | 0.0066 | 29 | c.246 others(46): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1117990 | T | TCCCAGCG others(22): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0284 | 1 | 324 | 0.0031 | 29 | c.246 others(46): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1118019 | C | CCCCAGCG others(22): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0049 | 1 | 160 | 0.0063 | 29 | c.246 others(46): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1118047 | C | CTCCCAGA others(22): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0034 | 1 | 333 | 0.0030 | 29 | c.246 others(46): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1118134 | C | CTCCCAGC others(22): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0096 | 1 | 260 | 0.0038 | 29 | c.246 others(46): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1118134 | C | CTCCCAGT others(22): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0118 | 1 | 260 | 0.0038 | 29 | c.246 others(46): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1118281 | C | CCCCAGCG others(22): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00621.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0082 a0001c0001t0001g0196 a0001c0001t0002g0137 others(23): Show |
26 | 256 | 0.1016 | 29 | c.246 others(46): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1118435 | A | ACCCTGAG others(22): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 a0001c0001t0002g0171 |
2 | 73 | 0.0274 | 29 | c.246 others(46): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1118482 | T | TCCCAGCG others(22): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01109.hp2 HG01952.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0004g0317 a0001c0001t0005g0305 a0001c0001t0007g0307 others(1): Show |
4 | 257 | 0.0156 | 29 | c.246 others(46): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1118569 | T | TCCCAGCG others(22): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02809.hp1 HG03831.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0054 a0001c0001t0004g0259 a0001c0001t0006g0093 others(2): Show |
5 | 325 | 0.0154 | 29 | c.246 others(46): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1118597 | T | TCCCCAGC others(22): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0270 | 1 | 96 | 0.0104 | 29 | c.246 others(46): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1118597 | T | TCCCCAGC others(22): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0004 | a0001c0004t0024 | a0001c0004t0024g0040 | 1 | 96 | 0.0104 | 29 | c.246 others(46): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1118597 | T | TTCCCAGC others(22): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02135.hp2 HG03669.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0033others(1): Show | a0001c0001t0001g0215 a0001c0001t0007g0334 a0001c0001t0033g0265 others(1): Show |
4 | 99 | 0.0404 | 29 | c.246 others(46): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1118656 | C | CCCAGCGT others(22): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0208 | 1 | 212 | 0.0047 | 29 | c.246 others(46): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar |