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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNT2_chr1_196220779_196613440 | 196284248 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 136 | 0.0074 | 15 | c.269 others(34): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196561675 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00673.hp1 HG01168.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0054a0001c0001t0001g0058a0001c0001t0001g0064others(7): Show | 10 | 136 | 0.0735 | 15 | c.95+ others(32): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196570067 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03669.hp1 HG04115.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0101a0001c0001t0002g0113a0001c0001t0002g0118others(1): Show | 4 | 136 | 0.0294 | 15 | c.95+ others(32): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196584168 | G | GATAAAAT others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01081.hp2 HG02109.hp2 others(13): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0004 | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0009others(13): Show | 16 | 136 | 0.1177 | 15 | c.95+ others(32): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | TogoVar | ||||||
KCNV1_chr8_109958636_109980771 | 109963198 | T | TTATAATA others(8): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG01261.hp2 HG01358.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0024a0001c0001t0002g0002others(5): Show | 16 | 372 | 0.0430 | 15 | c.*48 others(26): Show |
KCNV1 | ENSG00000164794.9 | transcript | ENST00000524391.6 | protein_coding | 437 | chr8 | TogoVar | ||||||
KCNV1_chr8_109958636_109980771 | 109963232 | A | AATATAAT others(8): Show |
downstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0054 | 1 | 372 | 0.0027 | 15 | c.*48 others(26): Show |
KCNV1 | ENSG00000164794.9 | transcript | ENST00000524391.6 | protein_coding | 403 | chr8 | TogoVar | ||||||
KCP_chr7_128871865_128915709 | 128908141 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0133 | 1 | 372 | 0.0027 | 15 | c.219 others(30): Show |
KCP | ENSG00000135253.16 | transcript | ENST00000610776.5 | protein_coding | 2/39 | chr7 | TogoVar | ||||||
KCP_chr7_128871865_128915709 | 128908251 | G | GAAAAAGA others(8): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0325 | 1 | 372 | 0.0027 | 15 | c.219 others(30): Show |
KCP | ENSG00000135253.16 | transcript | ENST00000610776.5 | protein_coding | 2/39 | chr7 | TogoVar | ||||||
KCP_chr7_128871865_128915709 | 128908251 | G | GAGAAAGA others(8): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02572.hp1 HG02976.hp1 others(1): Show |
a0006a0009a0021 | a0006c0006a0009c0087a0021c0072 | a0006c0006t0002a0009c0087t0002a0021c0072t0002 | a0006c0006t0002g0043a0006c0006t0002g0044a0009c0087t0002g0312others(1): Show | 4 | 372 | 0.0108 | 15 | c.219 others(30): Show |
KCP | ENSG00000135253.16 | transcript | ENST00000610776.5 | protein_coding | 2/39 | chr7 | TogoVar | ||||||
KCTD10_chr12_109443655_109482300 | 109452845 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0046 | 1 | 378 | 0.0027 | 15 | c.724 others(32): Show |
KCTD10 | ENSG00000110906.13 | transcript | ENST00000228495.11 | protein_coding | 6/6 | chr12 | TogoVar | ||||||
KCTD12_chr13_76875175_76891405 | 76886273 | G | GCCGCCAC others(8): Show |
5_prime_UTR_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0125 | a0001c0001t0125g0000 | 1 | 468 | 0.0021 | 15 | c.-14 others(24): Show |
KCTD12 | ENSG00000178695.6 | transcript | ENST00000377474.4 | protein_coding | 1/1 | 126 | chr13 | TogoVar | |||||
KCTD15_chr19_33791870_33820761 | 33816579 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01884.hp1 HG01884.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(6): Show | a0001c0001t0002g0023a0001c0001t0002g0164a0001c0001t0002g0177others(16): Show | 26 | 370 | 0.0703 | 15 | c.*36 others(26): Show |
KCTD15 | ENSG00000153885.15 | transcript | ENST00000683859.1 | protein_coding | 819 | chr19 | TogoVar | ||||||
KCTD16_chr5_144165873_144490686 | 144388065 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02717.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0005 | a0001c0001t0001g0047a0001c0002t0005g0048 | 2 | 156 | 0.0128 | 15 | c.833 others(34): Show |
KCTD16 | ENSG00000183775.11 | transcript | ENST00000512467.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
KCTD19_chr16_67284432_67331741 | 67325376 | C | CTTTATTT others(8): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03540.hp1 HG06807.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0011t0001others(1): Show | a0001c0001t0001g0052a0001c0002t0001g0017a0001c0002t0001g0184others(3): Show | 6 | 232 | 0.0259 | 15 | c.3+1 others(28): Show |
KCTD19 | ENSG00000168676.11 | transcript | ENST00000304372.6 | protein_coding | 1/15 | chr16 | TogoVar | ||||||
KCTD1_chr18_26449910_26553553 | 26453072 | A | AAATAATA others(8): Show |
downstream_gene_variant | MODIFIER | HG02056.hp2 HG02129.hp1 HG03139.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(2): Show | a0001c0001t0001g0200a0001c0001t0001g0253a0001c0001t0001g0255others(6): Show | 9 | 338 | 0.0266 | 15 | c.*26 others(26): Show |
KCTD1 | ENSG00000134504.14 | transcript | ENST00000580059.7 | protein_coding | 1837 | chr18 | TogoVar | ||||||
KCTD1_chr18_26449910_26553553 | 26532261 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0208 | 1 | 338 | 0.0030 | 15 | c.180 others(36): Show |
KCTD1 | ENSG00000134504.14 | transcript | ENST00000580059.7 | protein_coding | 1/4 | chr18 | TogoVar | ||||||
KCTD21_chr11_78166249_78193626 | 78168018 | C | CTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG01361.hp2 HG01433.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0013others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0011g0214others(3): Show | 6 | 430 | 0.0140 | 15 | c.*57 others(26): Show |
KCTD21 | ENSG00000188997.8 | transcript | ENST00000340067.4 | protein_coding | 3230 | chr11 | TogoVar | ||||||
KCTD2_chr17_75042225_75070886 | 75053858 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0150a0001c0001t0013g0151 | 2 | 408 | 0.0049 | 15 | c.540 others(30): Show |
KCTD2 | ENSG00000180901.11 | transcript | ENST00000322444.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KCTD4_chr13_45187853_45206045 | 45191224 | A | AAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG01192.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005a0001c0001t0002g0029 | 2 | 352 | 0.0057 | 15 | c.*25 others(26): Show |
KCTD4 | ENSG00000180332.7 | transcript | ENST00000379108.2 | protein_coding | 1628 | chr13 | TogoVar | ||||||
KCTD4_chr13_45187853_45206045 | 45191224 | A | AAAAAAAT others(8): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp2 NA18945.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005a0001c0001t0002g0007 | 5 | 352 | 0.0142 | 15 | c.*25 others(26): Show |
KCTD4 | ENSG00000180332.7 | transcript | ENST00000379108.2 | protein_coding | 1628 | chr13 | TogoVar | ||||||
KCTD8_chr4_44168903_44453809 | 44317228 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02280.hp1 HG02895.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0005 | a0001c0001t0001a0002c0003t0001a0003c0005t0001 | a0001c0001t0001g0229a0001c0001t0001g0234a0002c0003t0001g0288others(1): Show | 4 | 294 | 0.0136 | 15 | c.961 others(36): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
KDELR3_chr22_38463096_38488447 | 38478629 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02109.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139a0001c0001t0001g0142 | 2 | 404 | 0.0050 | 15 | c.193 others(30): Show |
KDELR3 | ENSG00000100196.11 | transcript | ENST00000216014.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
KDELR3_chr22_38463096_38488447 | 38483535 | C | CAGCATCC others(8): Show |
downstream_gene_variant | MODIFIER | NA19090.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0192 | 1 | 404 | 0.0025 | 15 | c.*99 others(25): Show |
KDELR3 | ENSG00000100196.11 | transcript | ENST00000216014.9 | protein_coding | 89 | chr22 | TogoVar | ||||||
KDM1A_chr1_23014468_23088689 | 23042440 | A | ATTATTAT others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01978.hp1 HG02004.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0008a0001c0001t0001g0092a0001c0001t0003g0074 | 4 | 352 | 0.0114 | 15 | c.518 others(32): Show |
KDM1A | ENSG00000004487.18 | transcript | ENST00000400181.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KDM1A_chr1_23014468_23088689 | 23042440 | A | ATTATTAT others(8): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0120a0001c0001t0003g0224 | 2 | 352 | 0.0057 | 15 | c.518 others(32): Show |
KDM1A | ENSG00000004487.18 | transcript | ENST00000400181.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KDM1A_chr1_23014468_23088689 | 23042440 | A | ATTATTAT others(8): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0123 | 1 | 352 | 0.0028 | 15 | c.518 others(32): Show |
KDM1A | ENSG00000004487.18 | transcript | ENST00000400181.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KDM1B_chr6_18150422_18228854 | 18210342 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0255 | 1 | 392 | 0.0026 | 15 | c.186 others(34): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KDM2A_chr11_67114263_67263082 | 67168582 | T | TAATACAC others(8): Show |
intron_variant | MODIFIER | HG02074.hp2 NA18948.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0168 | 2 | 220 | 0.0091 | 15 | c.43- others(32): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KDM2A_chr11_67114263_67263082 | 67169759 | C | CTCTCTCT others(8): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 220 | 0.0046 | 15 | c.43- others(32): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KDM2A_chr11_67114263_67263082 | 67201772 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103a0001c0001t0001g0104 | 2 | 220 | 0.0091 | 15 | c.308 others(32): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KDM4A_chr1_43645149_43710518 | 43647351 | A | AAAAAATC others(8): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG03041.hp1 NA19003.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0005 | a0001c0001t0001g0007a0001c0001t0001g0128a0002c0002t0005g0057 | 3 | 370 | 0.0081 | 15 | c.-29 others(26): Show |
KDM4A | ENSG00000066135.13 | transcript | ENST00000372396.4 | protein_coding | 2797 | chr1 | TogoVar | ||||||
KDM4A_chr1_43645149_43710518 | 43649226 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 | 1 | 370 | 0.0027 | 15 | c.-10 others(26): Show |
KDM4A | ENSG00000066135.13 | transcript | ENST00000372396.4 | protein_coding | 922 | chr1 | TogoVar | ||||||
KDM4B_chr19_4964113_5158598 | 5060433 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073 | 1 | 270 | 0.0037 | 15 | c.627 others(34): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KDM4C_chr9_6752973_7180648 | 6834043 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0014 | a0014c0014 | a0014c0014t0001 | a0014c0014t0001g0128 | 1 | 266 | 0.0038 | 15 | c.436 others(34): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KDM4C_chr9_6752973_7180648 | 6919247 | T | TTTCTTTC others(8): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00558.hp1 others(19): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0064others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(12): Show | a0001c0001t0001g0158a0001c0001t0002g0161a0001c0001t0002g0263others(19): Show | 22 | 266 | 0.0827 | 15 | c.921 others(34): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KDM4C_chr9_6752973_7180648 | 6920552 | G | GACTCCAT others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01981.hp1 others(34): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0002c0003others(14): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(20): Show | a0001c0001t0002g0150a0001c0001t0002g0263a0001c0001t0004g0265others(34): Show | 37 | 266 | 0.1391 | 15 | c.921 others(34): 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(8): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0198 | 1 | 266 | 0.0038 | 15 | c.921 others(34): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KDM4C_chr9_6752973_7180648 | 6944652 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02071.hp1 HG03942.hp2 NA18957.hp1 others(2): Show |
a0002a0004a0006others(1): Show | a0002c0003a0004c0005a0006c0009others(1): Show | a0002c0003t0001a0004c0005t0001a0004c0005t0002others(2): Show | a0002c0003t0001g0234a0004c0005t0001g0165a0004c0005t0002g0067others(2): Show | 5 | 266 | 0.0188 | 15 | c.922 others(34): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KDM4C_chr9_6752973_7180648 | 7050442 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG00735.hp2 others(18): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0266a0001c0001t0002g0093a0001c0001t0002g0263others(18): Show | 21 | 266 | 0.0790 | 15 | c.242 others(34): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KDM5A_chr12_275057_394320 | 278283 | A | AGGGGGGG others(8): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0341 | 1 | 350 | 0.0029 | 15 | c.*71 others(26): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 1773 | chr12 | TogoVar | ||||||
KDM5A_chr12_275057_394320 | 289907 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03130.hp1 HG06807.hp1 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0009 | a0002c0002t0003g0181a0002c0002t0009g0252a0002c0002t0009g0263 | 3 | 350 | 0.0086 | 15 | c.486 others(34): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 27/27 | chr12 | TogoVar | ||||||
KDM5A_chr12_275057_394320 | 347186 | C | CTAGGAAT others(8): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0227 | 1 | 350 | 0.0029 | 15 | c.130 others(34): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 10/27 | chr12 | TogoVar | ||||||
KDM5A_chr12_275057_394320 | 357827 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02572.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0246a0001c0001t0008g0175a0001c0001t0008g0176others(1): Show | 4 | 350 | 0.0114 | 15 | c.673 others(32): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 5/27 | chr12 | TogoVar | ||||||
KDM6A_chrX_44868188_45117779 | 44958604 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 199 | 0.0050 | 15 | c.226 others(32): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KDM6A_chrX_44868188_45117779 | 45046981 | A | ATGGTGGT others(8): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195a0001c0001t0001g0196 | 2 | 199 | 0.0101 | 15 | c.655 others(32): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KDM6B_chr17_7829217_7859796 | 7834636 | G | GGGCGGGG others(8): Show |
intron_variant | MODIFIER | NA18952.hp2 NA18957.hp1 NA18970.hp1 others(4): Show |
a0001a0005a0009 | a0001c0002a0005c0014a0009c0047 | a0001c0002t0001a0005c0014t0001a0009c0047t0015 | a0001c0002t0001g0105a0001c0002t0001g0106a0001c0002t0001g0107others(4): Show | 7 | 388 | 0.0180 | 15 | c.-38 others(32): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KDM6B_chr17_7829217_7859796 | 7846859 | T | TACCACCA others(8): Show |
disruptive_inframe_insertion | MODERATE | HG02897.hp2 | a0053 | a0053c0039 | a0053c0039t0005 | a0053c0039t0005g0046 | 1 | 388 | 0.0026 | 15 | c.777 others(22): Show |
p.Pro others(13): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 10/24 | 1313/6728 | 792/4932 | 264/1643 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
KDM7A_chr7_140079746_140181983 | 140082359 | A | AAACAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 HG02809.hp1 |
a0005 | a0005c0006 | a0005c0006t0007 | a0005c0006t0007g0022a0005c0006t0007g0023 | 2 | 344 | 0.0058 | 15 | c.*87 others(26): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 2386 | chr7 | TogoVar | ||||||
KDSR_chr18_63322726_63372206 | 63324508 | A | AAATAATA others(8): Show |
downstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0322 | 1 | 406 | 0.0025 | 15 | c.*72 others(26): Show |
KDSR | ENSG00000119537.18 | transcript | ENST00000645214.2 | protein_coding | 3217 | chr18 | TogoVar | ||||||
KHDC1_chr6_73236314_73268196 | 73259280 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01891.hp1 HG02056.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0229a0001c0001t0002g0230a0001c0001t0003g0033others(1): Show | 5 | 326 | 0.0153 | 15 | c.-14 others(32): Show |
KHDC1 | ENSG00000135314.14 | transcript | ENST00000257765.10 | protein_coding | 1/3 | chr6 | TogoVar |