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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNT1_chr9_135697185_135800502 | 135732024 | A | AGAGAGAG others(23): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0104 | 1 | 272 | 0.0037 | 30 | c.254 others(49): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196240456 | T | TTGCTATC others(23): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 136 | 0.0074 | 30 | c.321 others(49): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | TogoVar | |||||||
KCNT2_chr1_196220779_196613440 | 196284248 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02630.hp2 HG02723.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0056 others(2): Show |
5 | 136 | 0.0368 | 30 | c.269 others(49): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | TogoVar | |||||||
KCNT2_chr1_196220779_196613440 | 196284248 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 136 | 0.0074 | 30 | c.269 others(49): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | TogoVar | |||||||
KCNT2_chr1_196220779_196613440 | 196284248 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02165.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0058 a0001c0001t0011g0066 |
2 | 136 | 0.0147 | 30 | c.269 others(49): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | TogoVar | |||||||
KCNT2_chr1_196220779_196613440 | 196342420 | C | CTATATAT others(23): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 136 | 0.0074 | 30 | c.140 others(47): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | TogoVar | |||||||
KCNT2_chr1_196220779_196613440 | 196584168 | G | GATAAAAT others(23): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0039 a0001c0001t0001g0074 a0001c0001t0003g0035 others(1): Show |
4 | 136 | 0.0294 | 30 | c.95+ others(47): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | TogoVar | |||||||
KCNU1_chr8_36779374_36941125 | 36936894 | T | TTTTACAT others(23): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp2 others(120): Show |
a0001a0002a0005others(2): Show | a0001c0002a0001c0004a0001c0010others(7): Show | a0001c0002t0001a0001c0004t0001a0001c0004t0002others(8): Show | a0001c0002t0001g0003 a0001c0002t0001g0014 a0001c0002t0001g0018 others(117): Show |
123 | 294 | 0.4184 | 30 | c.*97 others(39): Show |
KCNU1 | ENSG00000215262.8 | transcript | ENST00000399881.8 | protein_coding | 770 | chr8 | TogoVar | |||||||
KCP_chr7_128871865_128915709 | 128899829 | A | ACCTTAAG others(23): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03139.hp1 HG03225.hp2 others(2): Show |
a0009a0012a0040 | a0009c0029a0009c0079a0012c0019others(1): Show | a0009c0029t0003a0009c0079t0005a0012c0019t0002others(1): Show | a0009c0029t0003g0335 a0009c0029t0003g0336 a0009c0079t0005g0334 others(2): Show |
5 | 372 | 0.0134 | 30 | c.831 others(47): Show |
KCP | ENSG00000135253.16 | transcript | ENST00000610776.5 | protein_coding | 8/39 | chr7 | TogoVar | |||||||
KCTD16_chr5_144165873_144490686 | 144452146 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0049 | 1 | 156 | 0.0064 | 30 | c.833 others(49): Show |
KCTD16 | ENSG00000183775.11 | transcript | ENST00000512467.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCTD20_chr6_36438000_36496141 | 36448013 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0162 | 1 | 366 | 0.0027 | 30 | c.-47 others(47): 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(23): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 NA19043.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0026a0002c0002t0034 | a0002c0002t0002g0027 a0002c0002t0026g0034 a0002c0002t0034g0033 |
3 | 366 | 0.0082 | 30 | c.-47 others(47): 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(23): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0272 | 1 | 408 | 0.0025 | 30 | c.763 others(45): Show |
KCTD2 | ENSG00000180901.11 | transcript | ENST00000322444.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KCTD3_chr1_215562304_215626807 | 215614018 | G | GTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 | 1 | 314 | 0.0032 | 30 | c.156 others(49): Show |
KCTD3 | ENSG00000136636.13 | transcript | ENST00000259154.9 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCTD4_chr13_45187853_45206045 | 45191224 | A | AAAAAAAA others(23): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 2 | 352 | 0.0057 | 30 | c.*25 others(41): Show |
KCTD4 | ENSG00000180332.7 | transcript | ENST00000379108.2 | protein_coding | 1628 | chr13 | TogoVar | |||||||
KCTD4_chr13_45187853_45206045 | 45191224 | A | AATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 352 | 0.0028 | 30 | c.*25 others(41): Show |
KCTD4 | ENSG00000180332.7 | transcript | ENST00000379108.2 | protein_coding | 1628 | chr13 | TogoVar | |||||||
KCTD8_chr4_44168903_44453809 | 44272121 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02895.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0269 a0001c0001t0004g0270 a0001c0001t0005g0001 |
3 | 294 | 0.0102 | 30 | c.962 others(49): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
KCTD8_chr4_44168903_44453809 | 44317228 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02165.hp2 NA18969.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0044 a0001c0001t0001g0077 others(1): Show |
4 | 294 | 0.0136 | 30 | c.961 others(51): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
KDM1B_chr6_18150422_18228854 | 18208603 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | NA18998.hp2 NA19005.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0386 a0001c0002t0001g0337 |
2 | 392 | 0.0051 | 30 | c.186 others(47): 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(23): Show |
intron_variant | MODIFIER | NA18967.hp2 NA19074.hp2 NA19079.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002a0001c0003t0028 | a0001c0003t0001g0108 a0001c0003t0001g0208 a0001c0003t0002g0098 others(1): Show |
4 | 392 | 0.0102 | 30 | c.186 others(47): 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(23): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0388 | 1 | 392 | 0.0026 | 30 | c.186 others(47): 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(23): Show |
intron_variant | MODIFIER | HG02895.hp1 NA18991.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0025 | a0001c0001t0001g0284 a0001c0004t0025g0379 |
2 | 392 | 0.0051 | 30 | c.186 others(47): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KDM4A_chr1_43645149_43710518 | 43649226 | C | CTTTTTTT others(23): Show |
upstream_gene_variant | MODIFIER | HG02040.hp1 HG02165.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0199 a0001c0001t0001g0216 others(1): Show |
4 | 370 | 0.0108 | 30 | c.-10 others(41): Show |
KDM4A | ENSG00000066135.13 | transcript | ENST00000372396.4 | protein_coding | 922 | chr1 | TogoVar | |||||||
KDM4C_chr9_6752973_7180648 | 6806878 | G | GTCTCCGT others(23): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03139.hp1 HG03486.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0027a0003c0004others(1): Show | a0001c0001t0006a0001c0027t0015a0003c0004t0003others(1): Show | a0001c0001t0006g0260 a0001c0027t0015g0261 a0003c0004t0003g0262 others(1): Show |
4 | 266 | 0.0150 | 30 | c.320 others(47): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 6919223 | C | CTCTTCTT others(23): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0060 | a0001c0060t0002 | a0001c0060t0002g0210 | 1 | 266 | 0.0038 | 30 | c.921 others(49): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM5A_chr12_275057_394320 | 357827 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0310 | 1 | 350 | 0.0029 | 30 | c.673 others(47): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 5/27 | chr12 | TogoVar | |||||||
KDM5A_chr12_275057_394320 | 389548 | A | ACGGGGCG others(23): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG00639.hp1 others(60): Show |
a0001a0002a0012others(2): Show | a0001c0001a0001c0003a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 others(60): Show |
63 | 350 | 0.1800 | 30 | c.-45 others(39): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 229 | chr12 | TogoVar | |||||||
KDM5A_chr12_275057_394320 | 389562 | G | GGCGAGGC others(23): Show |
upstream_gene_variant | MODIFIER | NA18959.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0180 | 1 | 350 | 0.0029 | 30 | c.-47 others(39): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 243 | chr12 | TogoVar | |||||||
KDM5A_chr12_275057_394320 | 389562 | G | GGCGAGGC others(23): Show |
upstream_gene_variant | MODIFIER | NA18998.hp1 NA19086.hp1 NA19087.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0050a0002c0002t0003a0002c0002t0005 | a0001c0001t0050g0208 a0002c0002t0003g0191 a0002c0002t0005g0323 |
3 | 350 | 0.0086 | 30 | c.-47 others(39): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 243 | chr12 | TogoVar | |||||||
KDM5A_chr12_275057_394320 | 389563 | G | GCGAGGCG others(23): Show |
upstream_gene_variant | MODIFIER | HG02155.hp2 NA18966.hp1 NA18991.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0003a0002c0002t0009 | a0001c0001t0002g0100 a0002c0002t0003g0189 a0002c0002t0009g0256 others(1): Show |
4 | 350 | 0.0114 | 30 | c.-47 others(39): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 244 | chr12 | TogoVar | |||||||
KDM7A_chr7_140079746_140181983 | 140100715 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18966.hp2 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0315 a0001c0001t0002g0318 a0001c0001t0002g0320 |
3 | 344 | 0.0087 | 30 | c.163 others(47): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 12/19 | chr7 | TogoVar | |||||||
KHDRBS1_chr1_32008868_32048877 | 32025916 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0026 | 1 | 272 | 0.0037 | 30 | c.383 others(47): Show |
KHDRBS1 | ENSG00000121774.18 | transcript | ENST00000327300.12 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KHDRBS2_chr6_61674961_62291225 | 61848488 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0211 | 1 | 244 | 0.0041 | 30 | c.810 others(49): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61954836 | G | GTATACAT others(23): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0110 | 1 | 244 | 0.0041 | 30 | c.483 others(49): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61983200 | T | TTTTCTTT others(23): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03130.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0002t0007 | a0001c0001t0011g0003 a0001c0002t0007g0212 |
2 | 244 | 0.0082 | 30 | c.337 others(47): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 3/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61983238 | T | TTCTTTCT others(23): Show |
intron_variant | MODIFIER | HG01515.hp2 HG03491.hp2 HG03492.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0005a0001c0002t0002a0003c0005t0005 | a0001c0001t0005g0124 a0001c0002t0002g0137 a0003c0005t0005g0009 others(1): Show |
4 | 244 | 0.0164 | 30 | c.337 others(47): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 3/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61993650 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0158 | 1 | 244 | 0.0041 | 30 | c.337 others(49): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 3/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 62169104 | T | TACACATA others(23): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02486.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0011a0001c0003t0002others(1): Show | a0001c0001t0001g0079 a0001c0001t0011g0003 a0001c0003t0002g0061 others(2): Show |
5 | 244 | 0.0205 | 30 | c.219 others(47): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 62169147 | G | GTGTATAT others(23): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG01099.hp2 others(31): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0011others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0007others(7): Show | a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0133 others(31): Show |
34 | 244 | 0.1393 | 30 | c.219 others(47): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 62169158 | C | CATATACA others(23): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0236 | 1 | 244 | 0.0041 | 30 | c.219 others(47): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 62169159 | G | ATATACAT others(23): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03130.hp1 NA19043.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0213 a0001c0002t0004g0214 a0001c0002t0004g0215 |
3 | 244 | 0.0123 | 30 | c.219 others(47): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
KHDRBS3_chr8_135452456_135652610 | 135485842 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG01975.hp2 HG03130.hp1 HG03130.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0241 a0001c0001t0002g0218 a0001c0001t0002g0327 others(2): Show |
5 | 342 | 0.0146 | 30 | c.88+ others(47): Show |
KHDRBS3 | ENSG00000131773.15 | transcript | ENST00000355849.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KHDRBS3_chr8_135452456_135652610 | 135485842 | T | TTTTATAT others(23): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 342 | 0.0029 | 30 | c.88+ others(47): Show |
KHDRBS3 | ENSG00000131773.15 | transcript | ENST00000355849.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KHSRP_chr19_6408102_6429811 | 6410145 | C | CTCTCTCT others(23): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0006 | a0001c0006t0065 | a0001c0006t0065g0155 | 1 | 386 | 0.0026 | 30 | c.*48 others(41): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 2956 | chr19 | TogoVar | |||||||
KHSRP_chr19_6408102_6429811 | 6410145 | C | CTCTCTCT others(23): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0006 | a0001c0006t0066 | a0001c0006t0066g0156 | 1 | 386 | 0.0026 | 30 | c.*48 others(41): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 2956 | chr19 | TogoVar | |||||||
KHSRP_chr19_6408102_6429811 | 6429023 | T | TTATATAT others(23): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0011a0001c0004t0003 | a0001c0001t0011g0015 a0001c0004t0003g0119 |
2 | 386 | 0.0052 | 30 | c.-43 others(41): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4213 | chr19 | TogoVar | |||||||
KHSRP_chr19_6408102_6429811 | 6429024 | T | TATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0036 | 1 | 386 | 0.0026 | 30 | c.-43 others(41): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4214 | chr19 | TogoVar | |||||||
KIAA0319_chr6_24539107_24651191 | 24579412 | G | GATAGATA others(23): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02965.hp1 |
a0008 | a0008c0012 | a0008c0012t0001a0008c0012t0070 | a0008c0012t0001g0129 a0008c0012t0070g0109 |
2 | 300 | 0.0067 | 30 | c.137 others(47): Show |
KIAA0319 | ENSG00000137261.15 | transcript | ENST00000378214.8 | protein_coding | 8/20 | chr6 | TogoVar | |||||||
KIAA0319_chr6_24539107_24651191 | 24648659 | G | GAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0077 | 1 | 300 | 0.0033 | 30 | c.-30 others(41): Show |
KIAA0319 | ENSG00000137261.15 | transcript | ENST00000378214.8 | protein_coding | 2469 | chr6 | TogoVar | |||||||
KIAA0586_chr14_58422719_58556297 | 58484890 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(12): Show |
a0001a0002a0009others(1): Show | a0001c0001a0002c0002a0009c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0047 a0001c0001t0001g0051 others(12): Show |
15 | 300 | 0.0500 | 30 | c.314 others(49): Show |
KIAA0586 | ENSG00000100578.18 | transcript | ENST00000652326.2 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |