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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNT1_chr9_135697185_135800502 | 135733433 | T | TGCCCCCA others(17): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0043 | 1 | 272 | 0.0037 | 24 | c.255 others(43): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KCNT1_chr9_135697185_135800502 | 135733469 | T | TGCCCCCA others(17): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0026 | 1 | 272 | 0.0037 | 24 | c.255 others(43): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KCNT1_chr9_135697185_135800502 | 135784482 | G | GCTCCCTC others(17): Show |
splice_region_variant others(1): Show |
LOW | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 272 | 0.0037 | 24 | c.294 others(38): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 25/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KCNT2_chr1_196220779_196613440 | 196284248 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 136 | 0.0074 | 24 | c.269 others(43): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196284248 | A | AAAATATA others(17): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0133 | 1 | 136 | 0.0074 | 24 | c.269 others(43): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196334487 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 136 | 0.0074 | 24 | c.178 others(41): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196382082 | A | AATTTATT others(17): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 136 | 0.0074 | 24 | c.129 others(43): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | TogoVar | ||||||
KCP_chr7_128871865_128915709 | 128908251 | G | GAAGAAAG others(17): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00735.hp2 HG01433.hp1 others(14): Show |
a0001a0004a0005others(3): Show | a0001c0001a0004c0004a0005c0005others(3): Show | a0001c0001t0001a0004c0004t0002a0005c0005t0001others(3): Show | a0001c0001t0001g0023a0001c0001t0001g0288a0001c0001t0001g0290others(13): Show | 17 | 372 | 0.0457 | 24 | c.219 others(39): Show |
KCP | ENSG00000135253.16 | transcript | ENST00000610776.5 | protein_coding | 2/39 | chr7 | TogoVar | ||||||
KCTD16_chr5_144165873_144490686 | 144299102 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 156 | 0.0064 | 24 | c.832 others(43): Show |
KCTD16 | ENSG00000183775.11 | transcript | ENST00000512467.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
KCTD16_chr5_144165873_144490686 | 144442450 | C | CTTCTTTC others(17): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG02280.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0030others(1): Show | a0001c0001t0004g0114a0001c0001t0009g0151a0001c0001t0030g0053others(1): Show | 4 | 156 | 0.0256 | 24 | c.833 others(43): Show |
KCTD16 | ENSG00000183775.11 | transcript | ENST00000512467.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
KCTD19_chr16_67284432_67331741 | 67331069 | A | AAGAGAGA others(17): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0206 | 1 | 232 | 0.0043 | 24 | c.-43 others(35): Show |
KCTD19 | ENSG00000168676.11 | transcript | ENST00000304372.6 | protein_coding | 4329 | chr16 | TogoVar | ||||||
KCTD20_chr6_36438000_36496141 | 36448015 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03471.hp2 |
a0002 | a0002c0004 | a0002c0004t0015 | a0002c0004t0015g0015a0002c0004t0015g0016 | 2 | 366 | 0.0055 | 24 | c.-47 others(41): Show |
KCTD20 | ENSG00000112078.14 | transcript | ENST00000373731.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCTD20_chr6_36438000_36496141 | 36448015 | G | GTGTATAT others(17): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02976.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0311a0001c0001t0010g0313a0001c0001t0010g0314 | 3 | 366 | 0.0082 | 24 | c.-47 others(41): Show |
KCTD20 | ENSG00000112078.14 | transcript | ENST00000373731.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCTD20_chr6_36438000_36496141 | 36448015 | G | GTGTATGT others(17): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0028 | 1 | 366 | 0.0027 | 24 | c.-47 others(41): Show |
KCTD20 | ENSG00000112078.14 | transcript | ENST00000373731.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCTD2_chr17_75042225_75070886 | 75062699 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG01257.hp1 HG02683.hp2 NA18970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0041 | a0001c0001t0002g0268a0001c0001t0005g0036a0001c0001t0041g0162 | 4 | 408 | 0.0098 | 24 | c.763 others(39): Show |
KCTD2 | ENSG00000180901.11 | transcript | ENST00000322444.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KCTD3_chr1_215562304_215626807 | 215591287 | T | TTTCCTTC others(17): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 314 | 0.0032 | 24 | c.818 others(41): Show |
KCTD3 | ENSG00000136636.13 | transcript | ENST00000259154.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCTD3_chr1_215562304_215626807 | 215625006 | A | AAACTTCA others(17): Show |
downstream_gene_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0195 | 1 | 314 | 0.0032 | 24 | c.*43 others(35): Show |
KCTD3 | ENSG00000136636.13 | transcript | ENST00000259154.9 | protein_coding | 3200 | chr1 | TogoVar | ||||||
KCTD4_chr13_45187853_45206045 | 45191224 | A | AAAAAAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0027a0001c0001t0003g0010 | 2 | 352 | 0.0057 | 24 | c.*25 others(35): Show |
KCTD4 | ENSG00000180332.7 | transcript | ENST00000379108.2 | protein_coding | 1628 | chr13 | TogoVar | ||||||
KCTD4_chr13_45187853_45206045 | 45191224 | A | AAAATATA others(17): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 352 | 0.0028 | 24 | c.*25 others(35): Show |
KCTD4 | ENSG00000180332.7 | transcript | ENST00000379108.2 | protein_coding | 1628 | chr13 | TogoVar | ||||||
KCTD4_chr13_45187853_45206045 | 45191224 | A | AATATATA others(17): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 352 | 0.0028 | 24 | c.*25 others(35): Show |
KCTD4 | ENSG00000180332.7 | transcript | ENST00000379108.2 | protein_coding | 1628 | chr13 | TogoVar | ||||||
KCTD7_chr7_66623881_66648047 | 66634113 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0173 | 1 | 428 | 0.0023 | 24 | c.314 others(39): Show |
KCTD7 | ENSG00000243335.10 | transcript | ENST00000639828.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KCTD8_chr4_44168903_44453809 | 44176860 | C | CATCTATC others(17): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 294 | 0.0034 | 24 | c.962 others(41): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
KCTD8_chr4_44168903_44453809 | 44272121 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG03516.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0266a0001c0001t0004g0231 | 2 | 294 | 0.0068 | 24 | c.962 others(43): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
KDELR1_chr19_48377575_48396551 | 48390577 | G | GAGAGAGA others(17): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0120 | 1 | 432 | 0.0023 | 24 | c.92- others(35): Show |
KDELR1 | ENSG00000105438.9 | transcript | ENST00000330720.7 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
KDM1B_chr6_18150422_18228854 | 18208603 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00639.hp1 HG01433.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0299a0001c0001t0001g0305a0001c0001t0002g0385 | 3 | 392 | 0.0077 | 24 | c.186 others(41): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KDM1B_chr6_18150422_18228854 | 18208603 | G | GTGTGTAT others(17): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03579.hp1 NA18964.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(1): Show | a0001c0003t0001g0113a0001c0003t0001g0115a0001c0003t0002g0084others(3): Show | 6 | 392 | 0.0153 | 24 | c.186 others(41): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KDM1B_chr6_18150422_18228854 | 18208603 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0361 | 1 | 392 | 0.0026 | 24 | c.186 others(41): 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(17): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0288 | 1 | 392 | 0.0026 | 24 | c.186 others(41): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KDM4A_chr1_43645149_43710518 | 43647351 | A | AAAAAAAT others(17): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 NA19090.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255a0001c0001t0001g0299a0001c0001t0001g0327 | 3 | 370 | 0.0081 | 24 | c.-29 others(35): Show |
KDM4A | ENSG00000066135.13 | transcript | ENST00000372396.4 | protein_coding | 2797 | chr1 | TogoVar | ||||||
KDM4A_chr1_43645149_43710518 | 43649226 | C | CTTTTTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01081.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0109a0001c0001t0001g0125others(22): Show | 25 | 370 | 0.0676 | 24 | c.-10 others(35): Show |
KDM4A | ENSG00000066135.13 | transcript | ENST00000372396.4 | protein_coding | 922 | chr1 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 6806914 | C | CTCTCCGT others(17): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0022 | a0022c0031 | a0022c0031t0013 | a0022c0031t0013g0195 | 1 | 266 | 0.0038 | 24 | c.320 others(41): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KDM4C_chr9_6752973_7180648 | 6919247 | T | TTTCTTTC others(17): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03239.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0012a0001c0002t0002g0146 | 2 | 266 | 0.0075 | 24 | c.921 others(43): 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(17): Show |
intron_variant | MODIFIER | HG00408.hp1 HG03453.hp1 NA18943.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0008 | a0001c0002t0001a0002c0003t0001a0002c0003t0002others(1): Show | a0001c0002t0001g0160a0002c0003t0001g0072a0002c0003t0002g0060others(1): Show | 4 | 266 | 0.0150 | 24 | c.921 others(43): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KDM4C_chr9_6752973_7180648 | 7122265 | A | ACACACAC others(17): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0139 | 1 | 266 | 0.0038 | 24 | c.261 others(43): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KDM5A_chr12_275057_394320 | 289907 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01099.hp2 NA18992.hp2 |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0023 | a0002c0002t0006g0083a0002c0002t0023g0089 | 2 | 350 | 0.0057 | 24 | c.486 others(43): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 27/27 | chr12 | TogoVar | ||||||
KDM5A_chr12_275057_394320 | 330085 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0109 | 1 | 350 | 0.0029 | 24 | c.177 others(43): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 13/27 | chr12 | TogoVar | ||||||
KDM5A_chr12_275057_394320 | 357827 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0296 | 1 | 350 | 0.0029 | 24 | c.673 others(41): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 5/27 | chr12 | TogoVar | ||||||
KDM6A_chrX_44868188_45117779 | 44876983 | A | ACGTATAC others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG01167.hp1 others(51): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0010a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0125a0001c0001t0001g0165a0001c0001t0001g0166others(51): Show | 54 | 199 | 0.2714 | 24 | c.225 others(41): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KDM6A_chrX_44868188_45117779 | 44963479 | G | GTGTCTGT others(17): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0134 | 1 | 199 | 0.0050 | 24 | c.334 others(41): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KDM6A_chrX_44868188_45117779 | 44963483 | G | GTGTCTGT others(17): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 199 | 0.0050 | 24 | c.334 others(41): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KDM6A_chrX_44868188_45117779 | 44963483 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166a0001c0001t0001g0169 | 2 | 199 | 0.0101 | 24 | c.334 others(41): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KDM6A_chrX_44868188_45117779 | 44963499 | C | CTGTCTGT others(17): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(12): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0092a0002c0002t0001g0093a0002c0002t0001g0094others(12): Show | 15 | 199 | 0.0754 | 24 | c.334 others(41): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KDM6A_chrX_44868188_45117779 | 45040783 | A | AGTAGGGG others(17): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 199 | 0.0050 | 24 | c.654 others(41): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 8/29 | chrX | TogoVar | ||||||
KDM6A_chrX_44868188_45117779 | 45046981 | A | ATGGTGGT others(17): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03041.hp2 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0002a0005c0007t0001 | a0001c0001t0002g0005a0005c0007t0001g0006 | 2 | 199 | 0.0101 | 24 | c.655 others(41): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KDM6A_chrX_44868188_45117779 | 45068786 | T | TTCTTTCT others(17): Show |
intron_variant | MODIFIER | NA18612.hp1 NA19240.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0125a0002c0002t0001g0139 | 2 | 199 | 0.0101 | 24 | c.208 others(41): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KDM7A_chr7_140079746_140181983 | 140100660 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0155 | 1 | 344 | 0.0029 | 24 | c.163 others(41): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 12/19 | chr7 | TogoVar | ||||||
KDM7A_chr7_140079746_140181983 | 140100685 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191 | 1 | 344 | 0.0029 | 24 | c.163 others(41): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 12/19 | chr7 | TogoVar | ||||||
KDM7A_chr7_140079746_140181983 | 140100715 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 | 1 | 344 | 0.0029 | 24 | c.163 others(41): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 12/19 | chr7 | TogoVar | ||||||
KDM7A_chr7_140079746_140181983 | 140178236 | T | TTTCCTTC others(17): Show |
upstream_gene_variant | MODIFIER | HG02148.hp1 NA18993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0077 | 2 | 344 | 0.0058 | 24 | c.-13 others(35): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 1254 | chr7 | TogoVar | ||||||
KDSR_chr18_63322726_63372206 | 63361017 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(207): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0009others(166): Show | 210 | 406 | 0.5172 | 24 | c.199 others(41): Show |
KDSR | ENSG00000119537.18 | transcript | ENST00000645214.2 | protein_coding | 2/9 | chr18 | TogoVar |