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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNMB2_chr3_178531436_178849429 | 178778460 | A | ACACGCAC others(23): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01943.hp1 HG02300.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0002 | a0001c0001t0003g0058 a0001c0002t0001g0057 a0001c0002t0002g0053 |
3 | 232 | 0.0129 | 30 | c.-67 others(49): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178778462 | A | ACGCACGC others(23): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0182 | 1 | 232 | 0.0043 | 30 | c.-67 others(49): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNN2_chr5_114357070_114501496 | 114373640 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 250 | 0.0040 | 30 | c.121 others(49): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNN2_chr5_114357070_114501496 | 114375952 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG02080.hp2 NA18906.hp1 |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0001a0002c0002t0001 | a0001c0006t0001g0093 a0002c0002t0001g0165 |
2 | 250 | 0.0080 | 30 | c.121 others(51): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNN2_chr5_114357070_114501496 | 114379605 | T | TGTAGAAT others(23): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 | 1 | 250 | 0.0040 | 30 | c.121 others(51): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | chr5 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154766416 | T | TCATATAT others(23): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0199 | 1 | 238 | 0.0042 | 30 | c.144 others(49): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154766416 | T | TTAAATAT others(23): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02109.hp1 HG03654.hp1 others(4): Show |
a0001a0003a0005 | a0001c0001a0001c0008a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0008t0005others(4): Show | a0001c0001t0002g0099 a0001c0001t0004g0110 a0001c0008t0005g0064 others(4): Show |
7 | 238 | 0.0294 | 30 | c.144 others(49): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154766416 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02055.hp1 HG02165.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0010others(3): Show | a0001c0001t0064a0002c0002t0005a0002c0010t0120others(3): Show | a0001c0001t0064g0104 a0002c0002t0005g0143 a0002c0010t0120g0228 others(3): Show |
6 | 238 | 0.0252 | 30 | c.144 others(49): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154766416 | T | TTTTATAT others(23): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01517.hp1 others(1): Show |
a0004a0005a0008 | a0004c0014a0005c0031a0008c0016 | a0004c0014t0006a0005c0031t0002a0008c0016t0007 | a0004c0014t0006g0039 a0005c0031t0002g0001 a0008c0016t0007g0209 |
4 | 238 | 0.0168 | 30 | c.144 others(49): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154869723 | G | GGCTGCTG others(23): Show |
conservative_inframe_insertion | MODERATE | HG03490.hp1 HG03492.hp1 |
a0014 | a0014c0023 | a0014c0023t0004a0014c0023t0021 | a0014c0023t0004g0008 a0014c0023t0021g0007 |
2 | 238 | 0.0084 | 30 | c.212 others(37): Show |
p.Gln others(11): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 1/8 | 558/13034 | 241/2196 | 81/731 | chr1 | TogoVar | |||
KCNQ1_chr11_2440008_2854105 | 2733814 | A | ACACACAC others(23): Show |
intron_variant | MODIFIER | NA18952.hp1 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 a0001c0001t0002g0197 |
2 | 208 | 0.0096 | 30 | c.151 others(51): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63442713 | C | CCACCACC others(23): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0234 | 1 | 330 | 0.0030 | 30 | c.691 others(45): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63443478 | T | TCACCACC others(23): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0313 | 1 | 330 | 0.0030 | 30 | c.691 others(45): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63461773 | T | TACCCCAG others(23): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02647.hp1 HG02683.hp2 others(15): Show |
a0001a0002 | a0001c0002a0001c0007a0001c0014others(2): Show | a0001c0002t0005a0001c0002t0036a0001c0007t0007others(5): Show | a0001c0002t0005g0021 a0001c0002t0005g0022 a0001c0002t0036g0001 others(14): Show |
18 | 330 | 0.0546 | 30 | c.296 others(49): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63461979 | A | AGCACCTA others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(127): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0004others(13): Show | a0001c0002t0005a0001c0002t0009a0001c0002t0012others(64): Show | a0001c0002t0005g0045 a0001c0002t0009g0044 a0001c0002t0012g0028 others(127): Show |
130 | 330 | 0.3939 | 30 | c.296 others(49): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63462340 | T | TGCATCTA others(23): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG01081.hp2 others(27): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0012others(3): Show | a0001c0002t0005a0001c0002t0009a0001c0002t0012others(23): Show | a0001c0002t0005g0045 a0001c0002t0009g0044 a0001c0002t0012g0028 others(27): Show |
30 | 330 | 0.0909 | 30 | c.296 others(47): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132293999 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0088 | 1 | 176 | 0.0057 | 30 | c.387 others(51): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132303565 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01255.hp1 HG01255.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(12): Show | a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0007g0171 others(14): Show |
17 | 176 | 0.0966 | 30 | c.387 others(51): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132403016 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02622.hp1 NA18522.hp2 NA18977.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0023a0001c0001t0026a0001c0001t0105others(1): Show | a0001c0001t0023g0078 a0001c0001t0026g0098 a0001c0001t0105g0163 others(1): Show |
4 | 176 | 0.0227 | 30 | c.386 others(49): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ5_chr6_72617064_73203853 | 72852640 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG02647.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0001g0013 a0001c0001t0004g0034 a0001c0001t0008g0032 others(4): Show |
7 | 80 | 0.0875 | 30 | c.399 others(51): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 73193464 | A | AAAAATAA others(23): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0062 | 1 | 80 | 0.0125 | 30 | c.183 others(47): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135731991 | T | TATATAGA others(23): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0189 | 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 | ||||||
KCNT1_chr9_135697185_135800502 | 135731991 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0034 | 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 | ||||||
KCNT1_chr9_135697185_135800502 | 135731991 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0031 a0001c0001t0002g0142 |
2 | 272 | 0.0074 | 30 | c.254 others(49): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135731991 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG02922.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0022a0001c0002t0001a0001c0002t0005 | a0001c0001t0022g0193 a0001c0002t0001g0124 a0001c0002t0005g0079 |
3 | 272 | 0.0110 | 30 | c.254 others(49): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135731991 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0181 | 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 | ||||||
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(1): Show | a0001c0002a0001c0004a0001c0009others(6): Show | a0001c0002t0001a0001c0004t0001a0001c0004t0002others(7): 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 |
a0009a0012a0039 | a0009c0029a0009c0076a0012c0020others(1): Show | a0009c0029t0003a0009c0076t0005a0012c0020t0002others(1): Show | a0009c0029t0003g0333 a0009c0029t0003g0334 a0009c0076t0005g0332 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 |