view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCTD9_chr8_25422847_25463433 | 25430808 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 350 | 0.0029 | 18 | c.105 others(35): Show |
KCTD9 | ENSG00000104756.17 | transcript | ENST00000221200.9 | protein_coding | 11/11 | chr8 | TogoVar | |||||||
KDELR2_chr7_6456089_6489152 | 6456507 | T | TATATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG02615.hp1 HG03654.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0005a0001c0001t0003g0221a0001c0001t0003g0248others(2): Show | 5 | 420 | 0.0119 | 18 | c.*66 others(29): Show |
KDELR2 | ENSG00000136240.10 | transcript | ENST00000258739.9 | protein_coding | 4581 | chr7 | TogoVar | |||||||
KDM1A_chr1_23014468_23088689 | 23042435 | A | ATATTATT others(11): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0091 | 1 | 352 | 0.0028 | 18 | c.518 others(35): 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(11): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073 | 1 | 352 | 0.0028 | 18 | c.518 others(35): 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(11): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02280.hp2 HG02970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0003g0081others(3): Show | 6 | 352 | 0.0171 | 18 | c.518 others(35): 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(11): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03492.hp1 NA19066.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0121a0001c0001t0003g0057a0001c0001t0003g0108others(1): Show | 4 | 352 | 0.0114 | 18 | c.518 others(35): Show |
KDM1A | ENSG00000004487.18 | transcript | ENST00000400181.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KDM1B_chr6_18150422_18228854 | 18155172 | G | GCCCGCGC others(11): Show |
upstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0256 | 1 | 392 | 0.0026 | 18 | c.-45 others(27): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 249 | chr6 | TogoVar | |||||||
KDM1B_chr6_18150422_18228854 | 18208603 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02132.hp2 NA19068.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0001a0002c0006t0002 | a0001c0002t0001g0319a0001c0002t0001g0332a0001c0002t0001g0338others(1): Show | 4 | 392 | 0.0102 | 18 | c.186 others(35): 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(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01123.hp2 HG01258.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0002g0387a0001c0002t0001g0315a0001c0002t0001g0316others(13): Show | 16 | 392 | 0.0408 | 18 | c.186 others(35): 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(11): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01261.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0003 | a0001c0003t0001g0081a0001c0003t0003g0011 | 2 | 392 | 0.0051 | 18 | c.186 others(35): 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(11): Show |
intron_variant | MODIFIER | NA18941.hp2 NA18990.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0363a0001c0002t0003g0364 | 2 | 392 | 0.0051 | 18 | c.186 others(35): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67247076 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0003 | 1 | 220 | 0.0046 | 18 | c.196 others(35): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 15/20 | chr11 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121478866 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01975.hp1 HG01978.hp2 HG02004.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0002t0001a0001c0002t0009 | a0001c0001t0014g0270a0001c0002t0001g0009a0001c0002t0001g0010others(9): Show | 12 | 270 | 0.0444 | 18 | c.173 others(39): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 12/22 | chr12 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121478866 | T | TTGTTTGT others(11): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 270 | 0.0037 | 18 | c.173 others(39): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 12/22 | chr12 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121478866 | T | TTGTTTGT others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG01071.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0022a0001c0001t0001g0031others(29): Show | 32 | 270 | 0.1185 | 18 | c.173 others(39): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 12/22 | chr12 | TogoVar | |||||||
KDM3B_chr5_138347685_138442027 | 138419728 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 356 | 0.0028 | 18 | c.371 others(35): Show |
KDM3B | ENSG00000120733.15 | transcript | ENST00000314358.10 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KDM4B_chr19_4964113_5158598 | 5035880 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01167.hp2 HG01993.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0142a0001c0001t0003g0152a0001c0001t0003g0153others(1): Show | 4 | 270 | 0.0148 | 18 | c.141 others(35): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KDM4B_chr19_4964113_5158598 | 5040674 | T | TCTGTCTG others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00438.hp1 others(115): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0006a0001c0017others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(30): Show | a0001c0001t0001g0132a0001c0001t0001g0145a0001c0001t0001g0163others(115): Show | 118 | 270 | 0.4370 | 18 | c.318 others(33): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KDM4B_chr19_4964113_5158598 | 5040696 | T | TCTGTGGC others(11): Show |
intron_variant | MODIFIER | HG03540.hp1 NA19240.hp2 NA21309.hp1 |
a0001a0003a0019 | a0001c0001a0003c0011a0019c0019 | a0001c0001t0032a0003c0011t0020a0019c0019t0020 | a0001c0001t0032g0175a0003c0011t0020g0059a0019c0019t0020g0148 | 3 | 270 | 0.0111 | 18 | c.318 others(33): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KDM4B_chr19_4964113_5158598 | 5084331 | A | ATAATTTA others(11): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0222 | 1 | 270 | 0.0037 | 18 | c.918 others(35): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KDM4B_chr19_4964113_5158598 | 5090463 | C | CCTCTTTC others(11): Show |
intron_variant | MODIFIER | HG01346.hp1 HG03704.hp1 |
a0001 | a0001c0007 | a0001c0007t0007a0001c0007t0023 | a0001c0007t0007g0032a0001c0007t0023g0159 | 2 | 270 | 0.0074 | 18 | c.918 others(35): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 6760445 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02965.hp2 homoSapiens_chm13v2.hp1 |
a0001a0013 | a0001c0001a0001c0002a0013c0025 | a0001c0001t0004a0001c0002t0003a0013c0025t0009 | a0001c0001t0004g0265a0001c0002t0003g0258a0013c0025t0009g0259 | 3 | 266 | 0.0113 | 18 | c.-18 others(35): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 6779032 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03098.hp1 |
a0001a0005 | a0001c0002a0005c0011 | a0001c0002t0002a0005c0011t0001 | a0001c0002t0002g0197a0005c0011t0001g0201 | 2 | 266 | 0.0075 | 18 | c.-17 others(37): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 6806878 | G | GTCTCCCT others(11): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0194 | 1 | 266 | 0.0038 | 18 | c.320 others(35): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 6889211 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02451.hp2 NA18974.hp1 others(2): Show |
a0002a0006 | a0002c0003a0002c0008a0006c0009 | a0002c0003t0001a0002c0003t0002a0002c0008t0002others(1): Show | a0002c0003t0001g0072a0002c0003t0002g0068a0002c0003t0002g0187others(2): Show | 5 | 266 | 0.0188 | 18 | c.783 others(35): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 6983573 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01928.hp2 HG02109.hp1 others(9): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0027others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0011others(4): Show | a0001c0001t0001g0021a0001c0001t0001g0075a0001c0001t0001g0151others(9): Show | 12 | 266 | 0.0451 | 18 | c.111 others(35): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 7052863 | C | CAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG01981.hp2 |
a0002a0006a0030 | a0002c0008a0006c0009a0030c0044 | a0002c0008t0002a0006c0009t0003a0030c0044t0001 | a0002c0008t0002g0188a0006c0009t0003g0254a0030c0044t0001g0222 | 3 | 266 | 0.0113 | 18 | c.242 others(37): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 7083711 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02630.hp1 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0004a0001c0002t0008a0003c0004t0016 | a0001c0002t0004g0203a0001c0002t0008g0124a0003c0004t0016g0202 | 3 | 266 | 0.0113 | 18 | c.242 others(39): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4D_chr11_94968709_95004519 | 95001162 | G | GTATATAT others(11): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0164 | 1 | 412 | 0.0024 | 18 | c.*22 others(29): Show |
KDM4D | ENSG00000186280.7 | transcript | ENST00000335080.6 | protein_coding | 1644 | chr11 | TogoVar | |||||||
KDM4D_chr11_94968709_95004519 | 95001162 | G | GTGTATAT others(11): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 HG03710.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139a0001c0001t0002g0143a0001c0001t0002g0144 | 3 | 412 | 0.0073 | 18 | c.*22 others(29): Show |
KDM4D | ENSG00000186280.7 | transcript | ENST00000335080.6 | protein_coding | 1644 | chr11 | TogoVar | |||||||
KDM5A_chr12_275057_394320 | 289907 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01106.hp1 HG01167.hp1 others(21): Show |
a0002a0005 | a0002c0002a0002c0004a0002c0008others(1): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0005others(8): Show | a0002c0002t0002g0092a0002c0002t0003g0179a0002c0002t0003g0183others(21): Show | 24 | 350 | 0.0686 | 18 | c.486 others(37): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 27/27 | chr12 | TogoVar | |||||||
KDM5A_chr12_275057_394320 | 330085 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18948.hp1 NA18949.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0035 | a0002c0002t0005g0324a0002c0002t0005g0326a0002c0002t0005g0332others(4): Show | 7 | 350 | 0.0200 | 18 | c.177 others(37): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 13/27 | chr12 | TogoVar | |||||||
KDM5A_chr12_275057_394320 | 330085 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01952.hp2 HG02723.hp2 others(11): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0003a0002c0002t0005a0002c0002t0008others(4): Show | a0002c0002t0003g0182a0002c0002t0003g0206a0002c0002t0005g0327others(10): Show | 14 | 350 | 0.0400 | 18 | c.177 others(37): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 13/27 | chr12 | TogoVar | |||||||
KDM5A_chr12_275057_394320 | 330085 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01099.hp2 HG01891.hp1 others(18): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0006a0002c0002t0008others(4): Show | a0002c0002t0003g0183a0002c0002t0003g0184a0002c0002t0003g0185others(18): Show | 21 | 350 | 0.0600 | 18 | c.177 others(37): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 13/27 | chr12 | TogoVar | |||||||
KDM5A_chr12_275057_394320 | 330085 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01928.hp1 NA19086.hp2 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0037 | a0002c0002t0003g0179a0002c0002t0037g0025 | 2 | 350 | 0.0057 | 18 | c.177 others(37): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 13/27 | chr12 | TogoVar | |||||||
KDM5A_chr12_275057_394320 | 390736 | A | AACACACA others(11): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 HG03098.hp2 |
a0001a0006 | a0001c0001a0006c0019 | a0001c0001t0041a0006c0019t0069 | a0001c0001t0041g0027a0006c0019t0069g0343 | 2 | 350 | 0.0057 | 18 | c.-16 others(29): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 1417 | chr12 | TogoVar | |||||||
KDM6A_chrX_44868188_45117779 | 44899004 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02717.hp1 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0180a0001c0001t0002g0110a0001c0001t0002g0111others(3): Show | 6 | 199 | 0.0302 | 18 | c.225 others(37): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KDM6A_chrX_44868188_45117779 | 44963479 | G | GTCTGTCT others(11): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0171 | 1 | 199 | 0.0050 | 18 | c.334 others(35): 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(11): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02559.hp1 NA18968.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0003t0001g0045others(1): Show | 4 | 199 | 0.0201 | 18 | c.334 others(35): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KDM6A_chrX_44868188_45117779 | 45005961 | A | ACCCCCCC others(11): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0096 | 1 | 199 | 0.0050 | 18 | c.385 others(35): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KDM6A_chrX_44868188_45117779 | 45046981 | A | ATGGTGGT others(11): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02258.hp1 HG02451.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191a0001c0001t0001g0192a0001c0001t0001g0193others(3): Show | 6 | 199 | 0.0302 | 18 | c.655 others(35): 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(11): Show |
intron_variant | MODIFIER | HG00544.hp1 HG03209.hp1 NA18940.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0106a0002c0002t0001g0140a0002c0002t0001g0146others(3): Show | 6 | 199 | 0.0302 | 18 | c.208 others(35): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KDM6A_chrX_44868188_45117779 | 45068823 | T | TCTTTCTC others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 NA20129.hp1 NA21309.hp1 |
a0001a0002 | a0001c0001a0002c0002a0002c0009 | a0001c0001t0002a0002c0002t0001a0002c0009t0001 | a0001c0001t0002g0124a0002c0002t0001g0134a0002c0009t0001g0135 | 3 | 199 | 0.0151 | 18 | c.208 others(35): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KDM6B_chr17_7829217_7859796 | 7846859 | T | TACCACCA others(11): Show |
disruptive_inframe_insertion | MODERATE | HG02895.hp1 | a0054 | a0054c0038 | a0054c0038t0005 | a0054c0038t0005g0315 | 1 | 388 | 0.0026 | 18 | c.774 others(25): 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 | ||
KEL_chr7_142936114_142967363 | 142948899 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 253 | 0.0040 | 18 | c.120 others(37): Show |
KEL | ENSG00000197993.9 | transcript | ENST00000355265.7 | protein_coding | 10/18 | chr7 | TogoVar | |||||||
KHDC1_chr6_73236314_73268196 | 73259280 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 326 | 0.0031 | 18 | c.-14 others(35): Show |
KHDC1 | ENSG00000135314.14 | transcript | ENST00000257765.10 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
KHDC3L_chr6_73357658_73369171 | 73364849 | A | ATTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 434 | 0.0023 | 18 | c.*98 others(27): Show |
KHDC3L | ENSG00000203908.4 | transcript | ENST00000370367.4 | protein_coding | 679 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61848560 | T | TATATATG others(11): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0220 | 1 | 244 | 0.0041 | 18 | c.810 others(37): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61930523 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0182 | 1 | 244 | 0.0041 | 18 | c.484 others(37): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61945150 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | NA18953.hp1 NA18964.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0003a0001c0004t0001 | a0001c0002t0003g0155a0001c0004t0001g0134 | 2 | 244 | 0.0082 | 18 | c.483 others(37): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 4/8 | chr6 | TogoVar |