view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCTD15_chr19_33791870_33820761 | 33796267 | C | CGGCGGGG | upstream_gene_variant | MODIFIER | HG01978.hp2 HG02717.hp1 NA19066.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0032 a0001c0001t0001g0194 a0001c0001t0002g0022 others(2): Show |
5 | 370 | 0.0135 | 7 | c.-84 others(16): Show |
KCTD15 | ENSG00000153885.15 | transcript | ENST00000683859.1 | protein_coding | 602 | chr19 | TogoVar | |||||||
KCTD16_chr5_144165873_144490686 | 144219513 | C | CTTTTTTT | intron_variant | MODIFIER | HG01175.hp1 HG01517.hp1 HG01891.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0001g0054 a0001c0001t0001g0083 a0001c0001t0001g0110 others(6): Show |
9 | 156 | 0.0577 | 7 | c.832 others(26): Show |
KCTD16 | ENSG00000183775.11 | transcript | ENST00000512467.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCTD19_chr16_67284432_67331741 | 67314874 | G | GAGAGAGA | intron_variant | MODIFIER | HG00738.hp1 HG01934.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 a0001c0001t0001g0145 |
2 | 232 | 0.0086 | 7 | c.300 others(24): Show |
KCTD19 | ENSG00000168676.11 | transcript | ENST00000304372.6 | protein_coding | 2/15 | chr16 | TogoVar | |||||||
KCTD19_chr16_67284432_67331741 | 67325320 | T | TCAGCCTC | intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 a0001c0001t0001g0181 |
2 | 232 | 0.0086 | 7 | c.3+1 others(20): Show |
KCTD19 | ENSG00000168676.11 | transcript | ENST00000304372.6 | protein_coding | 1/15 | chr16 | TogoVar | |||||||
KCTD1_chr18_26449910_26553553 | 26535971 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(116): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0055 a0001c0001t0001g0056 others(115): Show |
119 | 338 | 0.3521 | 7 | c.180 others(28): Show |
KCTD1 | ENSG00000134504.14 | transcript | ENST00000580059.7 | protein_coding | 1/4 | chr18 | TogoVar | |||||||
KCTD20_chr6_36438000_36496141 | 36446024 | G | GTTTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(190): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(23): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(185): Show |
193 | 366 | 0.5273 | 7 | c.-47 others(24): Show |
KCTD20 | ENSG00000112078.14 | transcript | ENST00000373731.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCTD2_chr17_75042225_75070886 | 75053858 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(38): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0008a0001c0001t0009others(5): Show | a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0011 others(24): Show |
41 | 408 | 0.1005 | 7 | c.540 others(22): Show |
KCTD2 | ENSG00000180901.11 | transcript | ENST00000322444.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KCTD2_chr17_75042225_75070886 | 75056952 | C | CTTTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG02809.hp1 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0026 a0001c0001t0004g0060 a0001c0001t0004g0063 others(2): Show |
6 | 408 | 0.0147 | 7 | c.541 others(24): Show |
KCTD2 | ENSG00000180901.11 | transcript | ENST00000322444.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KCTD5_chr16_2677523_2714030 | 2678465 | A | ACCCAGCC | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00642.hp2 HG00738.hp1 others(49): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0054 a0001c0001t0001g0055 others(39): Show |
52 | 414 | 0.1256 | 7 | c.-40 others(18): Show |
KCTD5 | ENSG00000167977.9 | transcript | ENST00000301738.9 | protein_coding | 4057 | chr16 | TogoVar | |||||||
KDELR3_chr22_38463096_38488447 | 38478629 | A | ATTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00642.hp1 others(51): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0026 others(38): Show |
54 | 404 | 0.1337 | 7 | c.193 others(22): Show |
KDELR3 | ENSG00000100196.11 | transcript | ENST00000216014.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KDF1_chr1_26944562_26965468 | 26962986 | A | ACACACAC | upstream_gene_variant | MODIFIER | HG03195.hp2 NA19043.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 278 | 0.0108 | 7 | c.-26 others(18): Show |
KDF1 | ENSG00000175707.10 | transcript | ENST00000320567.6 | protein_coding | 2519 | chr1 | TogoVar | |||||||
KDM1A_chr1_23014468_23088689 | 23042440 | A | ATTATTAT | intron_variant | MODIFIER | HG01106.hp1 HG02615.hp2 HG02717.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0062 a0001c0001t0004g0009 a0001c0001t0004g0104 others(4): Show |
8 | 352 | 0.0227 | 7 | c.518 others(24): Show |
KDM1A | ENSG00000004487.18 | transcript | ENST00000400181.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KDM1A_chr1_23014468_23088689 | 23042442 | T | TATTATTA | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG01069.hp2 others(34): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(2): Show | a0001c0001t0001g0020 a0001c0001t0001g0102 a0001c0001t0001g0124 others(31): Show |
37 | 352 | 0.1051 | 7 | c.518 others(24): Show |
KDM1A | ENSG00000004487.18 | transcript | ENST00000400181.9 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
KDM1B_chr6_18150422_18228854 | 18155155 | G | GCCTCTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG01069.hp1 HG01070.hp1 others(12): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0014a0001c0001t0022a0001c0003t0001others(4): Show | a0001c0001t0014g0019 a0001c0001t0022g0372 a0001c0003t0001g0033 others(12): Show |
15 | 392 | 0.0383 | 7 | c.-47 others(16): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 266 | chr6 | TogoVar | |||||||
KDM1B_chr6_18150422_18228854 | 18184736 | C | CTTTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp2 HG00735.hp2 others(30): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(10): Show | a0001c0002t0001g0010 a0001c0002t0001g0215 a0001c0002t0001g0219 others(30): Show |
33 | 392 | 0.0842 | 7 | c.535 others(24): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KDM1B_chr6_18150422_18228854 | 18195733 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(139): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 others(138): Show |
142 | 392 | 0.3622 | 7 | c.970 others(24): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KDM1B_chr6_18150422_18228854 | 18208628 | T | TATATATA | intron_variant | MODIFIER | HG01167.hp2 HG02257.hp1 HG03486.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0002a0003c0010t0002 | a0001c0001t0002g0061 a0001c0001t0002g0062 a0003c0010t0002g0375 others(2): Show |
5 | 392 | 0.0128 | 7 | c.186 others(24): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 17/21 | chr6 | TogoVar | |||||||
KDM2A_chr11_67114263_67263082 | 67168582 | T | TAATACAC | intron_variant | MODIFIER | HG00642.hp2 HG02559.hp1 HG02622.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0127 a0001c0001t0001g0210 others(1): Show |
4 | 220 | 0.0182 | 7 | c.43- others(24): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67169759 | C | CTCTCTCT | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG01074.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0032 others(6): Show |
9 | 220 | 0.0409 | 7 | c.43- others(24): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67201772 | C | CAAAAAAA | intron_variant | MODIFIER | HG00609.hp2 HG01243.hp1 HG02027.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0008 a0001c0001t0001g0072 a0001c0001t0001g0098 others(7): Show |
10 | 220 | 0.0455 | 7 | c.308 others(24): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67214207 | A | ATTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(121): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(121): Show |
124 | 220 | 0.5636 | 7 | c.487 others(24): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM3A_chr2_86436371_86497716 | 86474701 | T | TTTGTGTG | intron_variant | MODIFIER | HG00642.hp1 HG01975.hp1 HG02074.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0067 a0001c0001t0001g0070 others(5): Show |
9 | 302 | 0.0298 | 7 | c.172 others(22): Show |
KDM3A | ENSG00000115548.17 | transcript | ENST00000312912.10 | protein_coding | 11/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KDM4A_chr1_43645149_43710518 | 43649226 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00609.hp2 HG01168.hp1 HG01169.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0028 a0001c0001t0001g0234 a0001c0001t0001g0251 others(5): Show |
8 | 370 | 0.0216 | 7 | c.-10 others(18): Show |
KDM4A | ENSG00000066135.13 | transcript | ENST00000372396.4 | protein_coding | 922 | chr1 | TogoVar | |||||||
KDM4B_chr19_4964113_5158598 | 5060433 | C | CAAAAAAA | intron_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG01168.hp2 others(17): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(4): Show | a0001c0001t0001g0145 a0001c0001t0001g0180 a0001c0001t0001g0181 others(17): Show |
20 | 270 | 0.0741 | 7 | c.627 others(26): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 6771080 | C | CTTTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG01358.hp1 others(7): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0003c0069others(6): Show | a0001c0001t0002a0001c0002t0002a0003c0069t0001others(6): Show | a0001c0001t0002g0155 a0001c0002t0002g0011 a0001c0002t0002g0131 others(7): Show |
10 | 266 | 0.0376 | 7 | c.-18 others(26): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 6919247 | T | TTTCTTTC | intron_variant | MODIFIER | HG02135.hp2 HG02145.hp2 HG02451.hp2 others(9): Show |
a0001a0003a0004others(4): Show | a0001c0002a0003c0007a0003c0059others(6): Show | a0001c0002t0001a0003c0007t0001a0003c0059t0001others(7): Show | a0001c0002t0001g0048 a0003c0007t0001g0236 a0003c0059t0001g0134 others(9): Show |
12 | 266 | 0.0451 | 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 | 6926341 | T | TAAAAAAA | intron_variant | MODIFIER | HG01175.hp1 HG02486.hp2 HG02717.hp1 others(4): Show |
a0001a0003a0013 | a0001c0001a0003c0004a0003c0063others(1): Show | a0001c0001t0001a0001c0001t0002a0003c0004t0001others(2): Show | a0001c0001t0001g0158 a0001c0001t0002g0142 a0001c0001t0002g0161 others(4): Show |
7 | 266 | 0.0263 | 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 | 7109372 | T | TGGGGACC | intron_variant | MODIFIER | HG01978.hp1 HG02257.hp1 NA19240.hp2 |
a0002a0011 | a0002c0023a0011c0015 | a0002c0023t0002a0011c0015t0001 | a0002c0023t0002g0007 a0002c0023t0002g0132 a0011c0015t0001g0182 |
3 | 266 | 0.0113 | 7 | c.261 others(26): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM5A_chr12_275057_394320 | 357827 | C | CAAAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG01070.hp2 HG01099.hp1 others(49): Show |
a0001a0014 | a0001c0001a0014c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0130 others(49): Show |
52 | 350 | 0.1486 | 7 | c.673 others(24): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 5/27 | chr12 | TogoVar | |||||||
KDM5B_chr1_202719495_202813421 | 202749611 | C | CTAGGCCT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(257): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0003a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(35): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(245): Show |
260 | 382 | 0.6806 | 7 | c.182 others(24): Show |
KDM5B | ENSG00000117139.18 | transcript | ENST00000367265.9 | protein_coding | 13/26 | chr1 | TogoVar | |||||||
KDM6A_chrX_44868188_45117779 | 44922027 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp1 NA19007.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0003t0001g0081 |
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 | 44932084 | C | CTTTTTTT | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 a0001c0001t0002g0098 |
2 | 199 | 0.0101 | 7 | c.226 others(26): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KDM6A_chrX_44868188_45117779 | 44992206 | C | CTTTTTTT | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 199 | 0.0050 | 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 | 45002861 | G | GCCCCCCC | intron_variant | MODIFIER | HG01884.hp2 NA18612.hp1 |
a0002 | a0002c0002a0002c0009 | a0002c0002t0001a0002c0009t0001 | a0002c0002t0001g0139 a0002c0009t0001g0135 |
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 | 45005974 | C | CCCCACCA | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0119 | 1 | 199 | 0.0050 | 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 | 45005981 | C | CCCCACCA | intron_variant | MODIFIER | NA18959.hp1 NA19060.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0182 a0001c0003t0001g0031 |
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 | A | AGGGAGAG | intron_variant | MODIFIER | HG01952.hp1 NA19009.hp1 NA19063.hp1 |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0091 a0001c0003t0001g0011 a0002c0002t0001g0138 |
3 | 199 | 0.0151 | 7 | c.654 others(24): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KDM6B_chr17_7829217_7859796 | 7838447 | C | CACACACA | intron_variant | MODIFIER | HG01943.hp2 HG02451.hp1 NA18955.hp2 others(6): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0003a0002c0008others(4): Show | a0001c0001t0002a0002c0003t0001a0002c0008t0001others(4): Show | a0001c0001t0002g0165 a0001c0001t0002g0166 a0002c0003t0001g0077 others(6): Show |
9 | 388 | 0.0232 | 7 | c.-38 others(26): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 1/23 | chr17 | TogoVar | |||||||
KDM6B_chr17_7829217_7859796 | 7846896 | A | ACCACCAC | frameshift_variant | HIGH | HG02683.hp1 | a0028 | a0028c0101 | a0028c0101t0002 | a0028c0101t0002g0236 | 1 | 388 | 0.0026 | 7 | c.791 others(14): Show |
p.Leu others(5): 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 | 140178232 | T | TTCCTTCC | upstream_gene_variant | MODIFIER | HG00597.hp1 HG02074.hp1 NA18961.hp1 others(2): Show |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0004a0006c0007t0004 | a0002c0002t0004g0015 a0002c0002t0004g0289 a0002c0002t0004g0299 others(1): Show |
5 | 344 | 0.0145 | 7 | c.-12 others(18): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 1250 | chr7 | TogoVar | |||||||
KDM7A_chr7_140079746_140181983 | 140178283 | C | CCTTCCTT | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02717.hp2 HG02809.hp1 |
a0005a0008 | a0005c0006a0008c0014 | a0005c0006t0007a0008c0014t0039 | a0005c0006t0007g0023 a0005c0006t0007g0024 a0008c0014t0039g0213 |
3 | 344 | 0.0087 | 7 | c.-13 others(18): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 1301 | chr7 | TogoVar | |||||||
KEAP1_chr19_10481125_10508356 | 10481277 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01109.hp2 HG01168.hp1 others(46): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0008 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0033 a0001c0001t0001g0151 a0001c0001t0001g0152 others(24): Show |
49 | 392 | 0.1250 | 7 | c.*53 others(18): Show |
KEAP1 | ENSG00000079999.14 | transcript | ENST00000171111.10 | protein_coding | 4847 | chr19 | TogoVar | |||||||
KHDC3L_chr6_73357658_73369171 | 73364849 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG02080.hp2 HG02145.hp2 HG02723.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
8 | 434 | 0.0184 | 7 | c.*98 others(16): Show |
KHDC3L | ENSG00000203908.4 | transcript | ENST00000370367.4 | protein_coding | 679 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61833622 | C | CCATCAAT | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(1): Show | a0001c0001t0001g0114 a0001c0001t0006g0217 a0001c0001t0011g0003 others(1): Show |
4 | 244 | 0.0164 | 7 | c.810 others(26): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61930523 | T | TAAAAAAA | intron_variant | MODIFIER | HG00558.hp1 HG02080.hp2 HG02257.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0006a0001c0001t0009a0001c0002t0002others(9): Show | a0001c0001t0006g0223 a0001c0001t0009g0086 a0001c0002t0002g0111 others(17): Show |
20 | 244 | 0.0820 | 7 | c.484 others(26): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61945110 | A | ATGTATAT | intron_variant | MODIFIER | HG02970.hp2 HG03540.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0004a0001c0003t0010 | a0001c0002t0004g0179 a0001c0002t0004g0180 a0001c0003t0010g0001 others(1): Show |
4 | 244 | 0.0164 | 7 | c.483 others(26): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 62059198 | G | GTTTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG02080.hp2 HG03017.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(5): Show | a0001c0001t0001g0105 a0001c0001t0002g0066 a0001c0002t0003g0147 others(6): Show |
9 | 244 | 0.0369 | 7 | c.220 others(26): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 62213873 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG01099.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0008a0001c0002t0004a0001c0004t0004others(2): Show | a0001c0001t0008g0189 a0001c0001t0008g0194 a0001c0001t0008g0206 others(16): Show |
19 | 244 | 0.0779 | 7 | c.92- others(24): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
KHDRBS3_chr8_135452456_135652610 | 135515365 | T | TAAAAAAA | intron_variant | MODIFIER | HG03688.hp1 HG04115.hp1 NA18942.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0034 a0001c0001t0001g0100 a0001c0001t0001g0118 others(8): Show |
11 | 342 | 0.0322 | 7 | c.89- others(22): Show |
KHDRBS3 | ENSG00000131773.15 | transcript | ENST00000355849.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KHK_chr2_27081772_27105762 | 27087603 | A | ATCAGGTG | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp2 HG01106.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0020others(1): Show | a0001c0001t0004g0004 a0001c0001t0004g0039 a0001c0001t0004g0040 others(10): Show |
23 | 324 | 0.0710 | 7 | c.92+ others(20): Show |
KHK | ENSG00000138030.14 | transcript | ENST00000260598.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |