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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNQ3_chr8_132115861_132486095 | 132187770 | A | AGTGATAG others(20): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02615.hp2 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0021a0001c0001t0029others(1): Show | a0001c0001t0019g0041a0001c0001t0019g0043a0001c0001t0021g0055others(3): Show | 6 | 176 | 0.0341 | 27 | c.387 others(44): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
KCNQ3_chr8_132115861_132486095 | 132187903 | A | ATTGTGGT others(20): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02257.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017a0001c0001t0020others(7): Show | a0001c0001t0003g0157a0001c0001t0017g0139a0001c0001t0020g0050others(7): Show | 10 | 176 | 0.0568 | 27 | c.387 others(44): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
KCNQ3_chr8_132115861_132486095 | 132403016 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0009 | 1 | 176 | 0.0057 | 27 | c.386 others(46): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
KCNQ4_chr1_40778787_40845452 | 40814046 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0192 | 1 | 372 | 0.0027 | 27 | c.315 others(44): Show |
KCNQ4 | ENSG00000117013.17 | transcript | ENST00000347132.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCNQ5_chr6_72617064_73203853 | 73146626 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0062 | 1 | 80 | 0.0125 | 27 | c.146 others(48): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCNT2_chr1_196220779_196613440 | 196284248 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01891.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0065 | 2 | 136 | 0.0147 | 27 | c.269 others(46): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196284248 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0067 | 1 | 136 | 0.0074 | 27 | c.269 others(46): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196284248 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02258.hp1 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078a0001c0001t0001g0090 | 2 | 136 | 0.0147 | 27 | c.269 others(46): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | TogoVar | ||||||
KCP_chr7_128871865_128915709 | 128908251 | G | GAGAAAGA others(20): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02897.hp2 HG03471.hp1 |
a0006a0011 | a0006c0006a0011c0010 | a0006c0006t0002a0011c0010t0002 | a0006c0006t0002g0051a0006c0006t0002g0052a0011c0010t0002g0053 | 3 | 372 | 0.0081 | 27 | c.219 others(42): Show |
KCP | ENSG00000135253.16 | transcript | ENST00000610776.5 | protein_coding | 2/39 | chr7 | TogoVar | ||||||
KCTD11_chr17_7347162_7359944 | 7357559 | A | AGAAGAAG others(20): Show |
downstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 418 | 0.0024 | 27 | c.*39 others(38): Show |
KCTD11 | ENSG00000213859.8 | transcript | ENST00000333751.8 | protein_coding | 2616 | WARNING_TRANSCRIPT_NO_START_CODON | chr17 | TogoVar | |||||
KCTD19_chr16_67284432_67331741 | 67331069 | A | AGAGAGAG others(20): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 HG02622.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0209a0001c0002t0001g0213 | 2 | 232 | 0.0086 | 27 | c.-43 others(38): Show |
KCTD19 | ENSG00000168676.11 | transcript | ENST00000304372.6 | protein_coding | 4329 | chr16 | TogoVar | ||||||
KCTD4_chr13_45187853_45206045 | 45191224 | A | AAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 2 | 352 | 0.0057 | 27 | c.*25 others(38): Show |
KCTD4 | ENSG00000180332.7 | transcript | ENST00000379108.2 | protein_coding | 1628 | chr13 | TogoVar | ||||||
KCTD6_chr3_58487096_58507356 | 58506372 | T | TGCATTAA others(20): Show |
downstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 404 | 0.0025 | 27 | c.*47 others(38): Show |
KCTD6 | ENSG00000168301.13 | transcript | ENST00000404589.8 | protein_coding | 4017 | chr3 | TogoVar | ||||||
KCTD8_chr4_44168903_44453809 | 44317228 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01192.hp2 HG04184.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0062a0001c0001t0001g0066others(2): Show | 5 | 294 | 0.0170 | 27 | c.961 others(48): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
KDM1B_chr6_18150422_18228854 | 18208627 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0309 | 1 | 392 | 0.0026 | 27 | c.186 others(44): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KDM1B_chr6_18150422_18228854 | 18208627 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0282 | 1 | 392 | 0.0026 | 27 | c.186 others(44): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KDM1B_chr6_18150422_18228854 | 18208627 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0009 | 1 | 392 | 0.0026 | 27 | c.186 others(44): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KDM1B_chr6_18150422_18228854 | 18208628 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0382 | 1 | 392 | 0.0026 | 27 | c.186 others(44): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 17/21 | chr6 | TogoVar | ||||||
KDM2B_chr12_121424096_121586023 | 121514994 | C | CCTCTAAT others(20): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02818.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0076a0001c0001t0004g0209a0001c0001t0004g0210 | 3 | 270 | 0.0111 | 27 | c.104 others(46): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | ||||||
KDM4A_chr1_43645149_43710518 | 43649226 | C | CTTTTTTT others(20): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG01515.hp2 HG01884.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0219others(8): Show | 12 | 370 | 0.0324 | 27 | c.-10 others(38): Show |
KDM4A | ENSG00000066135.13 | transcript | ENST00000372396.4 | protein_coding | 922 | chr1 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 6919247 | T | TTTCTTTC others(20): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02615.hp2 NA18950.hp1 |
a0002a0004a0021 | a0002c0003a0004c0005a0021c0057 | a0002c0003t0001a0004c0005t0002a0021c0057t0001 | a0002c0003t0001g0057a0004c0005t0002g0067a0021c0057t0001g0213 | 3 | 266 | 0.0113 | 27 | c.921 others(46): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KDM4C_chr9_6752973_7180648 | 6926341 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0034 | a0034c0049 | a0034c0049t0002 | a0034c0049t0002g0005 | 1 | 266 | 0.0038 | 27 | c.921 others(46): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KDM5A_chr12_275057_394320 | 289907 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA18948.hp1 NA18982.hp2 NA19072.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0035 | a0002c0002t0005g0335a0002c0002t0005g0336a0002c0002t0005g0338others(1): Show | 4 | 350 | 0.0114 | 27 | c.486 others(46): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 27/27 | chr12 | TogoVar | ||||||
KDM5A_chr12_275057_394320 | 357827 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0312 | 1 | 350 | 0.0029 | 27 | c.673 others(44): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 5/27 | chr12 | TogoVar | ||||||
KHDRBS2_chr6_61674961_62291225 | 61869964 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0082 | 1 | 244 | 0.0041 | 27 | c.810 others(46): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 6/8 | chr6 | TogoVar | ||||||
KHDRBS2_chr6_61674961_62291225 | 61983237 | T | TTTCTTTC others(20): Show |
intron_variant | MODIFIER | HG02886.hp1 NA18949.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0157a0001c0002t0004g0208 | 2 | 244 | 0.0082 | 27 | c.337 others(44): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 3/8 | chr6 | TogoVar | ||||||
KHSRP_chr19_6408102_6429811 | 6429423 | G | GGGAGAAA others(20): Show |
upstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0102 | 1 | 386 | 0.0026 | 27 | c.-47 others(38): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4613 | chr19 | TogoVar | ||||||
KHSRP_chr19_6408102_6429811 | 6429521 | A | AGGAGAAA others(20): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG02723.hp1 HG02809.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0011 | a0001c0002t0001g0020a0001c0002t0011g0114 | 4 | 386 | 0.0104 | 27 | c.-48 others(38): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4711 | chr19 | TogoVar | ||||||
KIAA0319_chr6_24539107_24651191 | 24648659 | G | GAAAAAAA others(20): Show |
upstream_gene_variant | MODIFIER | HG02132.hp1 NA18747.hp1 NA18962.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0005g0084a0001c0001t0007g0064a0001c0001t0008g0075others(1): Show | 4 | 300 | 0.0133 | 27 | c.-30 others(38): Show |
KIAA0319 | ENSG00000137261.15 | transcript | ENST00000378214.8 | protein_coding | 2469 | chr6 | TogoVar | ||||||
KIAA0586_chr14_58422719_58556297 | 58484890 | T | TTATATAT others(20): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0217 | 1 | 300 | 0.0033 | 27 | c.314 others(46): Show |
KIAA0586 | ENSG00000100578.18 | transcript | ENST00000652326.2 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KIAA0586_chr14_58422719_58556297 | 58484924 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 300 | 0.0033 | 27 | c.314 others(46): Show |
KIAA0586 | ENSG00000100578.18 | transcript | ENST00000652326.2 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KIAA0825_chr5_94145851_94623604 | 94501669 | C | CTATCTAG others(20): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0005 | a0005c0012 | a0005c0012t0013 | a0005c0012t0013g0031 | 1 | 54 | 0.0185 | 27 | c.971 others(46): Show |
KIAA0825 | ENSG00000185261.16 | transcript | ENST00000682413.1 | protein_coding | 5/20 | chr5 | TogoVar | ||||||
KIAA0930_chr22_45187244_45245894 | 45228786 | A | ACTCACCC others(20): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03471.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0119a0001c0001t0161others(1): Show | a0001c0001t0002g0125a0001c0001t0119g0084a0001c0001t0161g0023others(1): Show | 4 | 398 | 0.0101 | 27 | c.64+ others(44): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
KIAA0930_chr22_45187244_45245894 | 45240974 | C | CCCCGCCC others(20): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0184 | 1 | 398 | 0.0025 | 27 | c.-27 others(36): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 81 | chr22 | TogoVar | ||||||
KIAA1210_chrX_119073635_119132812 | 119125735 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0065 | 1 | 261 | 0.0038 | 27 | c.-11 others(44): Show |
KIAA1210 | ENSG00000250423.3 | transcript | ENST00000691062.1 | protein_coding | 1/11 | chrX | TogoVar | ||||||
KIAA1210_chrX_119073635_119132812 | 119125735 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02486.hp1 NA18939.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0006 | a0001c0001t0001g0043a0002c0002t0006g0235 | 2 | 261 | 0.0077 | 27 | c.-11 others(44): Show |
KIAA1210 | ENSG00000250423.3 | transcript | ENST00000691062.1 | protein_coding | 1/11 | chrX | TogoVar | ||||||
KIAA1210_chrX_119073635_119132812 | 119125736 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02015.hp1 NA18979.hp1 |
a0001a0009 | a0001c0001a0009c0014 | a0001c0001t0001a0001c0001t0016a0009c0014t0004 | a0001c0001t0001g0222a0001c0001t0016g0105a0009c0014t0004g0247 | 3 | 261 | 0.0115 | 27 | c.-11 others(44): Show |
KIAA1210 | ENSG00000250423.3 | transcript | ENST00000691062.1 | protein_coding | 1/11 | chrX | TogoVar | ||||||
KIAA1217_chr10_24204138_24552843 | 24484241 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0067 | a0001c0067t0002 | a0001c0067t0002g0027 | 1 | 240 | 0.0042 | 27 | c.167 others(48): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KIAA1217_chr10_24204138_24552843 | 24484241 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA18906.hp1 NA18906.hp2 |
a0001a0018 | a0001c0025a0018c0056 | a0001c0025t0002a0018c0056t0002 | a0001c0025t0002g0001a0018c0056t0002g0009 | 2 | 240 | 0.0083 | 27 | c.167 others(48): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KIAA1217_chr10_24204138_24552843 | 24484241 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0161 | 1 | 240 | 0.0042 | 27 | c.167 others(48): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KIAA1217_chr10_24204138_24552843 | 24520651 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0013 | a0001c0013t0005 | a0001c0013t0005g0008 | 1 | 240 | 0.0042 | 27 | c.230 others(44): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 11/20 | chr10 | TogoVar | ||||||
KIAA1328_chr18_36824127_37230334 | 37105916 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0007 | 1 | 200 | 0.0050 | 27 | c.123 others(48): Show |
KIAA1328 | ENSG00000150477.15 | transcript | ENST00000280020.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KIAA1549L_chr11_33371108_33679102 | 33459960 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02559.hp2 HG02622.hp2 others(1): Show |
a0001 | a0001c0014a0001c0035a0001c0052 | a0001c0014t0007a0001c0035t0073a0001c0035t0075others(1): Show | a0001c0014t0007g0208a0001c0035t0073g0014a0001c0035t0075g0009others(1): Show | 4 | 226 | 0.0177 | 27 | c.239 others(46): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KIAA1614_chr1_180907897_180956614 | 180924886 | A | AAATAATA others(20): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01106.hp1 HG01192.hp2 others(3): Show |
a0001a0002a0005others(2): Show | a0001c0017a0002c0002a0005c0013others(2): Show | a0001c0017t0007a0002c0002t0013a0002c0002t0124others(3): Show | a0001c0017t0007g0113a0002c0002t0013g0077a0002c0002t0124g0272others(3): Show | 6 | 430 | 0.0140 | 27 | c.106 others(46): Show |
KIAA1614 | ENSG00000135835.12 | transcript | ENST00000367588.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KIAA1958_chr9_112481827_112674397 | 112513480 | C | CGATGGCT others(20): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0211 | 1 | 308 | 0.0033 | 27 | c.-25 others(46): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KIAA1958_chr9_112481827_112674397 | 112513480 | C | CGGTGGCT others(20): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(277): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(70): Show | a0001c0001t0001g0006a0001c0001t0001g0014a0001c0001t0001g0016others(277): Show | 280 | 308 | 0.9091 | 27 | c.-25 others(46): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KIAA2012_chr2_202068255_202210188 | 202133130 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG03710.hp1 HG03834.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0002 | a0001c0002t0002g0178a0002c0001t0002g0238 | 2 | 312 | 0.0064 | 27 | c.183 others(46): Show |
KIAA2012 | ENSG00000182329.14 | transcript | ENST00000498697.3 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KIAA2012_chr2_202068255_202210188 | 202133130 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0072 | 1 | 312 | 0.0032 | 27 | c.183 others(46): Show |
KIAA2012 | ENSG00000182329.14 | transcript | ENST00000498697.3 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KIF12_chr9_114086638_114104292 | 114089012 | T | TGGGGGAG others(20): Show |
downstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 430 | 0.0023 | 27 | c.*28 others(38): Show |
KIF12 | ENSG00000136883.16 | transcript | ENST00000640217.2 | protein_coding | 2625 | chr9 | TogoVar | ||||||
KIF13A_chr6_17758693_17992635 | 17821552 | G | GTGTGTGT others(20): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0024 | 1 | 282 | 0.0036 | 27 | c.178 others(46): Show |
KIF13A | ENSG00000137177.20 | transcript | ENST00000259711.11 | protein_coding | 16/38 | chr6 | TogoVar |