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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCTD16_chr5_144165873_144490686 | 144388065 | GTTTTTTT | G | intron_variant | MODIFIER | HG01192.hp1 HG02280.hp1 HG02809.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017a0001c0001t0033others(4): Show | a0001c0001t0003g0024a0001c0001t0003g0042a0001c0001t0003g0070others(6): Show | 9 | 156 | 0.0577 | -7 | c.833 others(26): Show |
KCTD16 | ENSG00000183775.11 | transcript | ENST00000512467.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
KCTD16_chr5_144165873_144490686 | 144393952 | CTTTCTTT | C | intron_variant | MODIFIER | HG02056.hp2 NA18987.hp1 NA18987.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0046 | a0001c0001t0002g0035a0001c0001t0002g0145a0001c0001t0046g0124 | 3 | 156 | 0.0192 | -7 | c.833 others(26): Show |
KCTD16 | ENSG00000183775.11 | transcript | ENST00000512467.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
KCTD1_chr18_26449910_26553553 | 26455940 | GTAAGTCC | G | intron_variant | MODIFIER | HG00323.hp1 HG01243.hp1 HG01515.hp2 others(13): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(3): Show | a0001c0001t0001g0075a0001c0001t0001g0127a0001c0001t0001g0129others(13): Show | 16 | 338 | 0.0473 | -7 | c.244 others(22): Show |
KCTD1 | ENSG00000134504.14 | transcript | ENST00000580059.7 | protein_coding | 4/4 | chr18 | TogoVar | ||||||
KCTD1_chr18_26449910_26553553 | 26514549 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01175.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0075a0001c0001t0001g0092a0001c0001t0001g0119others(10): Show | 13 | 338 | 0.0385 | -7 | c.181 others(28): Show |
KCTD1 | ENSG00000134504.14 | transcript | ENST00000580059.7 | protein_coding | 1/4 | chr18 | TogoVar | ||||||
KCTD1_chr18_26449910_26553553 | 26535500 | TAGCTTTC | T | intron_variant | MODIFIER | HG00140.hp1 HG01081.hp2 HG01255.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0003others(2): Show | a0001c0001t0001g0142a0001c0001t0001g0225a0001c0001t0001g0243others(11): Show | 14 | 338 | 0.0414 | -7 | c.180 others(28): Show |
KCTD1 | ENSG00000134504.14 | transcript | ENST00000580059.7 | protein_coding | 1/4 | chr18 | TogoVar | ||||||
KCTD20_chr6_36438000_36496141 | 36452541 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(120): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0005others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0004others(11): Show | a0001c0001t0001g0308a0002c0002t0002g0001a0002c0002t0002g0002others(114): Show | 123 | 366 | 0.3361 | -7 | c.-47 others(24): Show |
KCTD20 | ENSG00000112078.14 | transcript | ENST00000373731.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCTD20_chr6_36438000_36496141 | 36456578 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(128): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0005others(2): Show | a0001c0001t0005a0001c0001t0017a0001c0001t0018others(14): Show | a0001c0001t0005g0133a0001c0001t0005g0134a0001c0001t0005g0135others(122): Show | 131 | 366 | 0.3579 | -7 | c.-46 others(26): Show |
KCTD20 | ENSG00000112078.14 | transcript | ENST00000373731.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCTD20_chr6_36438000_36496141 | 36467318 | ATTTTTTT | A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00639.hp1 others(35): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0003g0152a0001c0001t0003g0155a0001c0001t0003g0156others(35): Show | 38 | 366 | 0.1038 | -7 | c.-46 others(24): Show |
KCTD20 | ENSG00000112078.14 | transcript | ENST00000373731.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCTD20_chr6_36438000_36496141 | 36483257 | CTTTTTCT | C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp2 others(91): Show |
a0002a0004a0006 | a0002c0002a0004c0005a0006c0007 | a0002c0002t0002a0002c0002t0004a0002c0002t0009others(5): Show | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0003others(85): Show | 94 | 366 | 0.2568 | -7 | c.857 others(24): Show |
KCTD20 | ENSG00000112078.14 | transcript | ENST00000373731.7 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCTD3_chr1_215562304_215626807 | 215580468 | TTAATATC | T | intron_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG02895.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0282a0001c0001t0001g0283others(7): Show | 11 | 314 | 0.0350 | -7 | c.626 others(22): Show |
KCTD3 | ENSG00000136636.13 | transcript | ENST00000259154.9 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCTD7_chr7_66623881_66648047 | 66646204 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00609.hp2 others(126): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0002g0001a0001c0001t0002g0007a0001c0001t0002g0008others(58): Show | 129 | 428 | 0.3014 | -7 | c.*69 others(18): Show |
KCTD7 | ENSG00000243335.10 | transcript | ENST00000639828.2 | protein_coding | 3158 | chr7 | TogoVar | ||||||
KCTD8_chr4_44168903_44453809 | 44308851 | GTTATAAA | G | intron_variant | MODIFIER | NA18970.hp2 NA18995.hp1 NA18995.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0025a0001c0004t0001g0279a0001c0004t0001g0280 | 3 | 294 | 0.0102 | -7 | c.962 others(28): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
KCTD8_chr4_44168903_44453809 | 44316795 | GAAAAAAA | G | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG01993.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0011a0001c0001t0001g0020a0001c0001t0001g0139others(6): Show | 9 | 294 | 0.0306 | -7 | c.961 others(28): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
KDELR2_chr7_6456089_6489152 | 6464197 | CAAAAAAA | C | intron_variant | MODIFIER | HG02080.hp1 HG02109.hp2 HG02886.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0062a0001c0001t0002g0028a0001c0001t0002g0049others(5): Show | 10 | 420 | 0.0238 | -7 | c.605 others(24): Show |
KDELR2 | ENSG00000136240.10 | transcript | ENST00000258739.9 | protein_coding | 4/4 | chr7 | TogoVar | ||||||
KDELR2_chr7_6456089_6489152 | 6483362 | AGGGCTTG | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(106): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0001g0201a0001c0001t0003g0005a0001c0001t0003g0006others(79): Show | 109 | 420 | 0.2595 | -7 | c.91+ others(20): Show |
KDELR2 | ENSG00000136240.10 | transcript | ENST00000258739.9 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
KDELR2_chr7_6456089_6489152 | 6485733 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01074.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0010a0001c0001t0001g0184a0001c0001t0001g0201others(18): Show | 22 | 420 | 0.0524 | -7 | c.-16 others(18): Show |
KDELR2 | ENSG00000136240.10 | transcript | ENST00000258739.9 | protein_coding | 1582 | chr7 | TogoVar | ||||||
KDELR3_chr22_38463096_38488447 | 38473974 | AAAAAAAG | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(399): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(294): Show | 402 | 404 | 0.9951 | -7 | c.92- others(20): Show |
KDELR3 | ENSG00000100196.11 | transcript | ENST00000216014.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
KDM1B_chr6_18150422_18228854 | 18199008 | GAAAAAAA | G | intron_variant | MODIFIER | HG01081.hp1 HG01099.hp1 HG01167.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0018a0001c0001t0002g0026a0001c0001t0004g0025others(5): Show | 8 | 392 | 0.0204 | -7 | c.122 others(26): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KDM1B_chr6_18150422_18228854 | 18208627 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01168.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0013others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0002g0020a0001c0001t0002g0023a0001c0001t0003g0021others(8): Show | 11 | 392 | 0.0281 | -7 | c.186 others(24): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KDM2A_chr11_67114263_67263082 | 67139243 | CCTTTTTT | C | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG02071.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008 | a0001c0001t0005g0061a0001c0001t0005g0071a0001c0001t0005g0091others(1): Show | 4 | 220 | 0.0182 | -7 | c.42+ others(24): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KDM2A_chr11_67114263_67263082 | 67168583 | ACACACAC | A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0019others(14): Show | 17 | 220 | 0.0773 | -7 | c.43- others(24): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 2/20 | chr11 | TogoVar | ||||||
KDM2B_chr12_121424096_121586023 | 121431295 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(50): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0015 | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(1): Show | a0001c0001t0001g0050a0001c0001t0001g0154a0001c0002t0001g0009others(50): Show | 53 | 270 | 0.1963 | -7 | c.383 others(24): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 22/22 | chr12 | TogoVar | ||||||
KDM3A_chr2_86436371_86497716 | 86496976 | GAAGTATA | G | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01256.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0014a0001c0001t0001g0183a0001c0001t0001g0195others(9): Show | 15 | 302 | 0.0497 | -7 | c.*48 others(18): Show |
KDM3A | ENSG00000115548.17 | transcript | ENST00000312912.10 | protein_coding | 4261 | chr2 | TogoVar | ||||||
KDM3B_chr5_138347685_138442027 | 138426874 | AAAAAAAG | A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(122): Show |
a0001a0007a0008others(3): Show | a0001c0001a0001c0009a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(117): Show | 125 | 356 | 0.3511 | -7 | c.441 others(22): Show |
KDM3B | ENSG00000120733.15 | transcript | ENST00000314358.10 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
KDM4B_chr19_4964113_5158598 | 5059782 | AAGCATAG | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00438.hp1 others(142): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0006a0001c0010others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(40): Show | a0001c0001t0001g0132a0001c0001t0001g0145a0001c0001t0001g0163others(142): Show | 145 | 270 | 0.5370 | -7 | c.627 others(26): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KDM4B_chr19_4964113_5158598 | 5132725 | TCCCCACA | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(62): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0012a0001c0028others(9): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(15): Show | a0001c0001t0003g0073a0001c0001t0003g0074a0001c0001t0003g0079others(62): Show | 65 | 270 | 0.2407 | -7 | c.190 others(24): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KDM4C_chr9_6752973_7180648 | 6801239 | ATTTTTTT | A | intron_variant | MODIFIER | HG01255.hp2 HG02109.hp2 HG02615.hp1 others(8): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0027others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0249a0001c0001t0002g0263a0001c0001t0004g0265others(8): Show | 11 | 266 | 0.0414 | -7 | c.145 others(24): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KDM4C_chr9_6752973_7180648 | 6912998 | TAACAAAA | T | intron_variant | MODIFIER | HG02071.hp1 HG02080.hp1 HG02523.hp2 others(16): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0003a0004c0005others(5): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(8): Show | a0001c0001t0001g0041a0001c0001t0001g0164a0001c0001t0001g0235others(16): Show | 19 | 266 | 0.0714 | -7 | c.921 others(26): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KDM4C_chr9_6752973_7180648 | 6929471 | CTTTTTTT | C | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02280.hp1 others(6): Show |
a0001a0003a0021 | a0001c0001a0001c0002a0003c0007others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0002others(3): Show | a0001c0001t0002g0137a0001c0001t0004g0205a0001c0001t0004g0206others(6): Show | 9 | 266 | 0.0338 | -7 | c.921 others(26): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KDM4D_chr11_94968709_95004519 | 95003326 | ATTGTGAC | A | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02615.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058a0001c0001t0001g0097a0001c0001t0001g0098others(1): Show | 4 | 412 | 0.0097 | -7 | c.*43 others(18): Show |
KDM4D | ENSG00000186280.7 | transcript | ENST00000335080.6 | protein_coding | 3808 | chr11 | TogoVar | ||||||
KDM5B_chr1_202719495_202813421 | 202743336 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(180): Show |
a0001a0007 | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(22): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(171): Show | 183 | 382 | 0.4791 | -7 | c.232 others(24): Show |
KDM5B | ENSG00000117139.18 | transcript | ENST00000367265.9 | protein_coding | 16/26 | chr1 | TogoVar | ||||||
KDM5B_chr1_202719495_202813421 | 202782007 | CACAATAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(196): Show |
a0001a0003a0007 | a0001c0001a0001c0006a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(24): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(187): Show | 199 | 382 | 0.5209 | -7 | c.205 others(24): Show |
KDM5B | ENSG00000117139.18 | transcript | ENST00000367265.9 | protein_coding | 1/26 | chr1 | TogoVar | ||||||
KDM6A_chrX_44868188_45117779 | 44890642 | CTTTTTTT | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01884.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0001t0001g0167others(7): Show | 10 | 199 | 0.0503 | -7 | c.225 others(26): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KDM6A_chrX_44868188_45117779 | 44922027 | CCTTTTTT | C | intron_variant | MODIFIER | HG01169.hp2 HG06807.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0189a0001c0001t0001g0190a0001c0001t0003g0126 | 3 | 199 | 0.0151 | -7 | c.226 others(26): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 2/29 | chrX | TogoVar | ||||||
KDM6A_chrX_44868188_45117779 | 44958604 | CTTTTTTT | C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 199 | 0.0050 | -7 | c.226 others(24): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KDM6A_chrX_44868188_45117779 | 44964312 | GGTGGTGT | G | intron_variant | MODIFIER | NA19055.hp1 | a0006 | a0006c0008 | a0006c0008t0008 | a0006c0008t0008g0156 | 1 | 199 | 0.0050 | -7 | c.334 others(24): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KDM6A_chrX_44868188_45117779 | 44992206 | CTTTTTTT | C | intron_variant | MODIFIER | HG00738.hp1 HG01081.hp2 HG01515.hp1 others(4): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0069a0001c0001t0002g0107a0001c0001t0002g0178others(4): Show | 7 | 199 | 0.0352 | -7 | c.384 others(26): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KDM6A_chrX_44868188_45117779 | 45005954 | CCCCCCCA | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02055.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0003 | a0001c0001t0001g0166a0001c0001t0001g0169a0001c0001t0001g0187others(4): Show | 7 | 199 | 0.0352 | -7 | c.385 others(24): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KDM6A_chrX_44868188_45117779 | 45005962 | CCCCCCCA | C | intron_variant | MODIFIER | HG01891.hp1 HG01934.hp1 HG02258.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0010a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0191a0001c0001t0001g0192a0001c0001t0001g0193others(10): Show | 13 | 199 | 0.0653 | -7 | c.385 others(24): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KDM6A_chrX_44868188_45117779 | 45005971 | CCCCCCCA | C | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097a0001c0001t0002g0098 | 2 | 199 | 0.0101 | -7 | c.385 others(24): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KDM6A_chrX_44868188_45117779 | 45042256 | AGGGAGAG | A | intron_variant | MODIFIER | HG00673.hp1 HG01081.hp2 HG01168.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0014others(11): Show | 14 | 199 | 0.0704 | -7 | c.654 others(24): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KDM6A_chrX_44868188_45117779 | 45042301 | GAGAGGGA | G | intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0044 | 1 | 199 | 0.0050 | -7 | c.654 others(24): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 8/29 | chrX | TogoVar | ||||||
KDM6A_chrX_44868188_45117779 | 45047667 | TTTTTTTC | T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 199 | 0.0050 | -7 | c.655 others(24): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KDM6A_chrX_44868188_45117779 | 45047674 | CTTTTTTT | C | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0185 | 1 | 199 | 0.0050 | -7 | c.655 others(24): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KDM7A_chr7_140079746_140181983 | 140178235 | CTTTCCTT | C | upstream_gene_variant | MODIFIER | HG00735.hp1 HG02615.hp1 HG02965.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0014a0002c0002t0005g0278a0002c0002t0005g0279others(1): Show | 4 | 344 | 0.0116 | -7 | c.-13 others(18): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 1253 | chr7 | TogoVar | ||||||
KEL_chr7_142936114_142967363 | 142966613 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01261.hp1 HG01361.hp2 others(18): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0031others(15): Show | 21 | 253 | 0.0830 | -7 | c.-44 others(18): Show |
KEL | ENSG00000197993.9 | transcript | ENST00000355265.7 | protein_coding | 4251 | chr7 | TogoVar | ||||||
KHDC1L_chr6_73218544_73230496 | 73227050 | AGAAAAAG | A | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02922.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016a0001c0001t0002g0038 | 3 | 420 | 0.0071 | -7 | c.-16 others(18): Show |
KHDC1L | ENSG00000256980.5 | transcript | ENST00000370388.4 | protein_coding | 1555 | chr6 | TogoVar | ||||||
KHDC4_chr1_155908045_155939413 | 155927833 | CACACACA | C | intron_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG01952.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0194a0001c0001t0001g0213 | 5 | 326 | 0.0153 | -7 | c.465 others(22): Show |
KHDC4 | ENSG00000132680.11 | transcript | ENST00000368321.8 | protein_coding | 4/13 | chr1 | TogoVar | ||||||
KHDC4_chr1_155908045_155939413 | 155927837 | CACACACA | C | intron_variant | MODIFIER | HG02015.hp1 HG03491.hp1 NA18948.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007a0001c0001t0002g0068a0001c0001t0002g0069 | 5 | 326 | 0.0153 | -7 | c.465 others(22): Show |
KHDC4 | ENSG00000132680.11 | transcript | ENST00000368321.8 | protein_coding | 4/13 | chr1 | TogoVar | ||||||
KHDRBS1_chr1_32008868_32048877 | 32033015 | GTTTTTCT | G | intron_variant | MODIFIER | HG02080.hp2 HG02109.hp1 NA18952.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0091a0001c0001t0001g0094a0001c0001t0001g0095others(4): Show | 7 | 272 | 0.0257 | -7 | c.625 others(22): Show |
KHDRBS1 | ENSG00000121774.18 | transcript | ENST00000327300.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |