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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KAT2B_chr3_20035446_20159404 | 20106989 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0074 | 1 | 286 | 0.0035 | -27 | c.852 others(44): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20106991 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0170 | 1 | 339 | 0.0029 | -27 | c.852 others(44): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20106993 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0336 | 1 | 356 | 0.0028 | -27 | c.852 others(44): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20106997 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0155 | 1 | 371 | 0.0027 | -27 | c.852 others(44): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20107009 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0237 | 1 | 360 | 0.0028 | -27 | c.852 others(44): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT6A_chr8_41924479_42056987 | 41953224 | ACAAAAGT others(20): Show |
A | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0019 | a0001c0019t0003 | a0001c0019t0003g0172 | 1 | 372 | 0.0027 | -27 | c.159 others(46): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 9/16 | chr8 | TogoVar | |||||||
KAT6B_chr10_74821600_75037624 | 74830758 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG02622.hp1 others(4): Show |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0002a0003c0004t0001a0003c0004t0002 | a0001c0003t0002g0021 a0003c0004t0001g0013 a0003c0004t0001g0014 others(4): Show |
7 | 209 | 0.0335 | -27 | c.-32 others(46): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KAT6B_chr10_74821600_75037624 | 74830760 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 212 | 0.0047 | -27 | c.-32 others(46): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14681635 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0131 | 1 | 134 | 0.0075 | -27 | c.226 others(46): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14927956 | TGCCTTGT others(20): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01167.hp2 HG02055.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0006 a0001c0001t0002g0046 a0001c0001t0002g0144 others(12): Show |
15 | 146 | 0.1027 | -27 | c.227 others(46): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | chr1 | TogoVar | |||||||
KAZN_chr1_14593685_15123043 | 15050159 | GGAATAGA others(20): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG02630.hp2 HG02647.hp2 others(2): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0014 | a0001c0001t0003a0001c0001t0007a0001c0001t0027others(2): Show | a0001c0001t0003g0136 a0001c0001t0007g0021 a0001c0001t0027g0016 others(2): Show |
5 | 23 | 0.2174 | -27 | c.727 others(44): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 4/14 | chr1 | TogoVar | |||||||
KBTBD11_chr8_1968677_2011936 | 1969227 | TATATTTA others(20): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(131): Show |
a0001a0004a0006 | a0001c0001a0001c0009a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0188 others(127): Show |
134 | 388 | 0.3454 | -27 | c.-56 others(38): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 4449 | chr8 | TogoVar | |||||||
KCNAB2_chr1_6040888_6106180 | 6045432 | AGGACATG others(20): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0317 | 1 | 358 | 0.0028 | -27 | c.-77 others(36): Show |
KCNAB2 | ENSG00000069424.16 | transcript | ENST00000378083.8 | protein_coding | 455 | chr1 | TogoVar | |||||||
KCNC2_chr12_75035078_75214839 | 75188585 | GGCGCGGT others(20): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01884.hp2 HG01891.hp2 others(21): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0108 a0001c0001t0003g0298 a0001c0001t0003g0299 others(21): Show |
24 | 314 | 0.0764 | -27 | c.687 others(46): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
KCNG4_chr16_84213657_84245012 | 84227592 | AAAACAAA others(20): Show |
A | intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 323 | 0.0031 | -27 | c.757 others(44): Show |
KCNG4 | ENSG00000168418.8 | transcript | ENST00000308251.6 | protein_coding | 2/2 | chr16 | TogoVar | |||||||
KCNG4_chr16_84213657_84245012 | 84227859 | GTCCAGAG others(20): Show |
G | intron_variant | MODIFIER | NA18906.hp1 | a0029 | a0029c0032 | a0029c0032t0019 | a0029c0032t0019g0287 | 1 | 470 | 0.0021 | -27 | c.757 others(44): Show |
KCNG4 | ENSG00000168418.8 | transcript | ENST00000308251.6 | protein_coding | 2/2 | chr16 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 211027434 | ATCTCTAG others(20): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG02723.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0016a0001c0001t0026 | a0001c0001t0009g0056 a0001c0001t0016g0058 a0001c0001t0026g0057 |
3 | 162 | 0.0185 | -27 | c.559 others(44): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 5/10 | chr1 | TogoVar | |||||||
KCNH7_chr2_162366407_162843767 | 162741187 | TATGTTAT others(20): Show |
T | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 98 | 0.0102 | -27 | c.307 others(46): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | |||||||
KCNH8_chr3_19143510_19540642 | 19180235 | GTTCAAAG others(20): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(97): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(97): Show |
100 | 127 | 0.7874 | -27 | c.76+ others(44): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNIP1_chr5_170499020_170741632 | 170550627 | ATGATGGT others(20): Show |
A | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 | 1 | 218 | 0.0046 | -27 | c.61+ others(44): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNIP3_chr2_95292347_95391077 | 95334359 | AGGGTGGG others(20): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01891.hp1 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0230 a0001c0001t0010g0116 a0001c0001t0010g0229 |
3 | 296 | 0.0101 | -27 | c.181 others(46): Show |
KCNIP3 | ENSG00000115041.14 | transcript | ENST00000295225.10 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21365514 | TAAATAAA others(20): Show |
T | intron_variant | MODIFIER | HG02922.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013 a0001c0001t0002g0063 |
2 | 75 | 0.0267 | -27 | c.62- others(46): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNJ12_chr17_21371357_21424870 | 21385430 | TTGATCCC others(20): Show |
T | intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0163 | 1 | 374 | 0.0027 | -27 | c.-17 others(46): Show |
KCNJ12 | ENSG00000184185.10 | transcript | ENST00000583088.6 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
KCNJ3_chr2_154693695_154863354 | 154736374 | TAAAAAAA others(20): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02647.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0002g0102 a0001c0001t0003g0104 a0001c0001t0011g0103 others(1): Show |
4 | 42 | 0.0952 | -27 | c.919 others(46): Show |
KCNJ3 | ENSG00000162989.5 | transcript | ENST00000295101.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNJ3_chr2_154693695_154863354 | 154857886 | CAAAAAAA others(20): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01361.hp1 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0017 a0001c0001t0026g0018 |
2 | 14 | 0.1429 | -27 | c.*25 others(38): Show |
KCNJ3 | ENSG00000162989.5 | transcript | ENST00000295101.3 | protein_coding | 3/3 | 2588 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KCNJ6_chr21_37602373_37921457 | 37607089 | TGTGGGAG others(20): Show |
T | downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0023 | 1 | 196 | 0.0051 | -27 | c.*18 others(40): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 283 | chr21 | TogoVar | |||||||
KCNJ9_chr1_160076538_160095563 | 160076578 | CATTATGT others(20): Show |
C | upstream_gene_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 428 | 0.0023 | -27 | c.-52 others(38): Show |
KCNJ9 | ENSG00000162728.5 | transcript | ENST00000368088.4 | protein_coding | 4959 | chr1 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88220416 | CAAAAAAA others(20): Show |
C | intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 56 | 0.0179 | -27 | c.681 others(44): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 4/6 | chr14 | TogoVar | |||||||
KCNK13_chr14_90056994_90190853 | 90075025 | TTTTGTAT others(20): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG02895.hp1 HG02897.hp2 others(3): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0004a0005c0007t0001 | a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0161 others(3): Show |
6 | 318 | 0.0189 | -27 | c.334 others(46): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KCNMA1_chr10_76879882_77642808 | 77439122 | GAAGAGAA others(20): Show |
G | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0062 | 1 | 106 | 0.0094 | -27 | c.379 others(46): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170375533 | TCCCTCAG others(20): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0169 | 1 | 428 | 0.0023 | -27 | c.*31 others(38): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 4/4 | 3144 | chr5 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178568817 | AATAGATA others(20): Show |
A | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 213 | 0.0047 | -27 | c.-68 others(46): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759062 | TATATATA others(20): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG03139.hp1 NA19043.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0201 a0001c0001t0003g0203 a0001c0002t0001g0175 others(1): Show |
4 | 224 | 0.0179 | -27 | c.-67 others(46): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNN1_chr19_17962107_18005085 | 17970289 | ATTTTTTT others(20): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0147 a0001c0001t0002g0148 |
2 | 3 | 0.6667 | -27 | c.-82 others(44): Show |
KCNN1 | ENSG00000105642.16 | transcript | ENST00000684775.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KCNQ1_chr11_2440008_2854105 | 2699487 | GGGAGAGT others(20): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(81): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0036 others(81): Show |
84 | 206 | 0.4078 | -27 | c.151 others(48): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNQ1_chr11_2440008_2854105 | 2829981 | GGGAGGAG others(20): Show |
G | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0028 | 1 | 206 | 0.0049 | -27 | c.179 others(48): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 72746064 | CAAAAAAA others(20): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02109.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0002g0006 a0001c0001t0004g0034 a0001c0001t0004g0045 others(14): Show |
17 | 18 | 0.9444 | -27 | c.398 others(48): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNRG_chr13_50010444_50025922 | 50015085 | AAAAAAAA others(20): Show |
A | upstream_gene_variant | MODIFIER | HG04184.hp1 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 442 | 0.0045 | -27 | c.-40 others(36): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 358 | chr13 | TogoVar | |||||||
KCNRG_chr13_50010444_50025922 | 50015087 | AAAAAAAA others(20): Show |
A | upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 431 | 0.0023 | -27 | c.-40 others(36): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 356 | chr13 | TogoVar | |||||||
KCNRG_chr13_50010444_50025922 | 50015089 | AAAAAAAT others(20): Show |
A | upstream_gene_variant | MODIFIER | HG02165.hp1 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 419 | 0.0048 | -27 | c.-40 others(36): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 354 | chr13 | TogoVar | |||||||
KCNRG_chr13_50010444_50025922 | 50015091 | AAAAATAT others(20): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 NA18989.hp1 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 |
3 | 423 | 0.0071 | -27 | c.-40 others(36): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 352 | chr13 | TogoVar | |||||||
KCNRG_chr13_50010444_50025922 | 50015093 | AAATATAT others(20): Show |
A | upstream_gene_variant | MODIFIER | HG01192.hp2 HG01361.hp2 HG01934.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 15 | 315 | 0.0476 | -27 | c.-40 others(36): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 350 | chr13 | TogoVar | |||||||
KCNT1_chr9_135697185_135800502 | 135768245 | GGGGGGGG others(20): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01168.hp1 others(12): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0021 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(3): Show | a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0062 others(12): Show |
15 | 270 | 0.0556 | -27 | c.133 others(44): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 13/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135798007 | CAGCGTGA others(20): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02572.hp2 HG03195.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0027a0001c0002t0004a0001c0002t0006others(5): Show | a0001c0001t0027g0157 a0001c0002t0004g0257 a0001c0002t0006g0054 others(6): Show |
9 | 270 | 0.0333 | -27 | c.*58 others(38): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2506 | chr9 | TogoVar | |||||||
KCP_chr7_128871865_128915709 | 128908240 | GAAGAAAG others(20): Show |
G | intron_variant | MODIFIER | HG02080.hp2 HG02132.hp2 HG03491.hp1 others(4): Show |
a0002a0003a0007 | a0002c0003a0003c0002a0007c0008 | a0002c0003t0002a0003c0002t0001a0003c0002t0002others(1): Show | a0002c0003t0002g0002 a0002c0003t0002g0090 a0003c0002t0001g0100 others(4): Show |
7 | 289 | 0.0242 | -27 | c.219 others(42): Show |
KCP | ENSG00000135253.16 | transcript | ENST00000610776.5 | protein_coding | 2/39 | chr7 | TogoVar | |||||||
KCTD10_chr12_109443655_109482300 | 109461971 | CGCTGTGC others(20): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(84): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0009a0001c0001t0012others(10): Show | a0001c0001t0003g0050 a0001c0001t0009g0020 a0001c0001t0009g0075 others(48): Show |
87 | 376 | 0.2314 | -27 | c.218 others(44): Show |
KCTD10 | ENSG00000110906.13 | transcript | ENST00000228495.11 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
KCTD16_chr5_144165873_144490686 | 144299124 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG00438.hp1 NA18987.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0039 | a0001c0001t0002g0035 a0001c0001t0039g0156 |
2 | 139 | 0.0144 | -27 | c.832 others(46): Show |
KCTD16 | ENSG00000183775.11 | transcript | ENST00000512467.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCTD18_chr2_200483958_200515068 | 200510306 | CCAAGGGA others(20): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0082 | 1 | 440 | 0.0023 | -27 | c.-78 others(36): Show |
KCTD18 | ENSG00000155729.13 | transcript | ENST00000359878.8 | protein_coding | 239 | chr2 | TogoVar | |||||||
KCTD1_chr18_26449910_26553553 | 26546916 | ACACAGAC others(20): Show |
A | conservative_inframe_deletion | MODERATE | NA18959.hp1 NA18999.hp2 NA19009.hp1 |
a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0297 a0004c0007t0001g0298 a0004c0007t0001g0299 |
3 | 336 | 0.0089 | -27 | c.159 others(36): Show |
p.Pro others(13): Show |
KCTD1 | ENSG00000134504.14 | transcript | ENST00000580059.7 | protein_coding | 1/5 | 1637/3448 | 1594/2598 | 532/865 | chr18 | TogoVar | |||
KCTD2_chr17_75042225_75070886 | 75051786 | AGGAAATT others(20): Show |
A | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0136 | 1 | 406 | 0.0025 | -27 | c.449 others(44): Show |
KCTD2 | ENSG00000180901.11 | transcript | ENST00000322444.7 | protein_coding | 2/5 | chr17 | TogoVar |