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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JMJD1C_chr10_63162225_63470977 | 63337624 | A | AAAAGAAA others(28): Show |
intron_variant | MODIFIER | HG02922.hp1 NA19004.hp2 NA19087.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0293 a0003c0003t0001g0183 a0003c0003t0001g0193 |
3 | 162 | 0.0185 | 35 | c.333 others(54): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63387629 | A | ATTTTTTT others(28): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0130 | 1 | 9 | 0.1111 | 35 | c.169 others(52): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 1/25 | chr10 | TogoVar | |||||||
JMJD7_chr15_41823092_41842581 | 41833414 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02129.hp2 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0087 |
3 | 95 | 0.0316 | 35 | c.65- others(50): Show |
JMJD7 | ENSG00000243789.11 | transcript | ENST00000397299.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
JMJD7_chr15_41823092_41842581 | 41833414 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG01074.hp2 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0005 |
2 | 94 | 0.0213 | 35 | c.65- others(50): Show |
JMJD7 | ENSG00000243789.11 | transcript | ENST00000397299.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
JMJD7_chr15_41823092_41842581 | 41833414 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 93 | 0.0108 | 35 | c.65- others(50): Show |
JMJD7 | ENSG00000243789.11 | transcript | ENST00000397299.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
JMJD7_chr15_41823092_41842581 | 41833414 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 93 | 0.0108 | 35 | c.65- others(50): Show |
JMJD7 | ENSG00000243789.11 | transcript | ENST00000397299.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
JUP_chr17_41749609_41791711 | 41750311 | C | CCTCTGTC others(28): Show |
downstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0138 | 1 | 410 | 0.0024 | 35 | c.*54 others(46): Show |
JUP | ENSG00000173801.17 | transcript | ENST00000393931.8 | protein_coding | 4297 | chr17 | TogoVar | |||||||
KANK1_chr9_499695_751103 | 671623 | A | AAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0025 | a0025c0038 | a0025c0038t0001 | a0025c0038t0001g0011 | 1 | 88 | 0.0114 | 35 | c.-83 others(52): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46045440 | A | AAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0320 | 1 | 299 | 0.0033 | 35 | c.202 others(54): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 7/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46096311 | C | CCTTTTTT others(28): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 74 | 0.0135 | 35 | c.129 others(54): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
KARS1_chr16_75622724_75652665 | 75624133 | A | ATATATAT others(28): Show |
downstream_gene_variant | MODIFIER | HG01358.hp1 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0053 |
2 | 72 | 0.0278 | 35 | c.*37 others(46): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3590 | chr16 | TogoVar | |||||||
KAT2B_chr3_20035446_20159404 | 20149495 | C | CAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG03225.hp2 NA18994.hp1 NA19000.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0036 a0001c0001t0002g0213 a0001c0002t0002g0303 |
3 | 47 | 0.0638 | 35 | c.230 others(54): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KATNA1_chr6_149589873_149653714 | 149634275 | A | AAAAATAA others(28): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 123 | 0.0081 | 35 | c.163 others(52): Show |
KATNA1 | ENSG00000186625.14 | transcript | ENST00000367411.7 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
KATNBL1_chr15_34135674_34215096 | 34195690 | C | CAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0240 | 1 | 271 | 0.0037 | 35 | c.-15 others(54): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
KATNIP_chr16_27545144_27785344 | 27549081 | G | GAGGCGGA others(28): Show |
upstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 150 | 0.0067 | 35 | c.-10 others(46): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 1062 | chr16 | TogoVar | |||||||
KAZN_chr1_14593685_15123043 | 14695510 | C | CTTTTTTT others(28): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01106.hp1 |
a0002a0003 | a0002c0002a0003c0005 | a0002c0002t0001a0003c0005t0002 | a0002c0002t0001g0010 a0003c0005t0002g0091 |
2 | 65 | 0.0308 | 35 | c.226 others(54): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14883342 | G | GAGAGAGA others(28): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0016 | 1 | 134 | 0.0075 | 35 | c.227 others(54): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14883347 | A | AGGGAGGG others(28): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0003 | a0003c0017 | a0003c0017t0002 | a0003c0017t0002g0019 | 1 | 141 | 0.0071 | 35 | c.227 others(54): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | chr1 | TogoVar | |||||||
KCMF1_chr2_84966161_85064472 | 85008335 | A | AATGATAT others(28): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0016 | 1 | 245 | 0.0041 | 35 | c.17- others(52): Show |
KCMF1 | ENSG00000176407.18 | transcript | ENST00000409785.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCMF1_chr2_84966161_85064472 | 85008375 | G | GATATATA others(28): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0272 | 1 | 243 | 0.0041 | 35 | c.17- others(52): Show |
KCMF1 | ENSG00000176407.18 | transcript | ENST00000409785.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNAB1_chr3_156115578_156543605 | 156518461 | G | GAAAGAAA others(28): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02486.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(1): Show | a0001c0001t0001g0028 a0001c0001t0004g0072 a0001c0001t0012g0063 others(1): Show |
4 | 82 | 0.0488 | 35 | c.960 others(52): Show |
KCNAB1 | ENSG00000169282.19 | transcript | ENST00000490337.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNB1_chr20_49358877_49487668 | 49425670 | T | TATATATA others(28): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 125 | 0.0080 | 35 | c.568 others(54): Show |
KCNB1 | ENSG00000158445.10 | transcript | ENST00000371741.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210806832 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0148 | 1 | 87 | 0.0115 | 35 | c.146 others(54): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
KCNH5_chr14_62694464_63050458 | 62853453 | A | AATCATAT others(28): Show |
intron_variant | MODIFIER | HG01175.hp2 NA18959.hp2 NA19081.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0029others(1): Show | a0001c0001t0001g0110 a0001c0001t0005g0014 a0001c0001t0029g0171 others(1): Show |
4 | 211 | 0.0190 | 35 | c.137 others(54): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 7/10 | chr14 | TogoVar | |||||||
KCNH5_chr14_62694464_63050458 | 62853458 | T | TATATATA others(28): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01515.hp2 HG01928.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0212 others(6): Show |
9 | 162 | 0.0556 | 35 | c.137 others(54): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 7/10 | chr14 | TogoVar | |||||||
KCNH5_chr14_62694464_63050458 | 63003559 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18961.hp2 NA19002.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0083 a0001c0001t0002g0085 a0001c0001t0003g0082 others(1): Show |
4 | 220 | 0.0182 | 35 | c.305 others(52): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 3/10 | chr14 | TogoVar | |||||||
KCNH5_chr14_62694464_63050458 | 63047162 | G | GCCTCCCC others(28): Show |
upstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 94 | 0.0106 | 35 | c.-20 others(46): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 1705 | chr14 | TogoVar | |||||||
KCNH8_chr3_19143510_19540642 | 19308713 | T | TCCCCTCT others(28): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0110 | 1 | 112 | 0.0089 | 35 | c.442 others(54): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNIP1_chr5_170499020_170741632 | 170618516 | A | AAGGAAGG others(28): Show |
intron_variant | MODIFIER | HG03516.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 a0001c0001t0001g0209 |
2 | 218 | 0.0092 | 35 | c.62- others(54): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNIP3_chr2_95292347_95391077 | 95327964 | T | TTCTGGGA others(28): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 296 | 0.0034 | 35 | c.181 others(54): Show |
KCNIP3 | ENSG00000115041.14 | transcript | ENST00000295225.10 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21519740 | G | GTGTATAT others(28): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 | 1 | 66 | 0.0152 | 35 | c.61+ others(54): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21582006 | A | AAGAATAG others(28): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 75 | 0.0133 | 35 | c.61+ others(54): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNJ13_chr2_232760802_232781565 | 232763747 | C | CTTGAACC others(28): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 444 | 0.0023 | 35 | c.*44 others(46): Show |
KCNJ13 | ENSG00000115474.7 | transcript | ENST00000233826.4 | protein_coding | 2054 | chr2 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37630158 | G | GTGTGTGT others(28): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0003 | a0001c0003t0130 | a0001c0003t0130g0036 | 1 | 183 | 0.0055 | 35 | c.947 others(52): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88198892 | C | CTTATTTT others(28): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0032 | 1 | 64 | 0.0156 | 35 | c.682 others(52): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 4/6 | chr14 | TogoVar | |||||||
KCNK13_chr14_90056994_90190853 | 90143176 | T | TTTCTTTC others(28): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 227 | 0.0044 | 35 | c.335 others(54): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215209204 | A | AAAATATA others(28): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01106.hp2 HG01891.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0035a0001c0002t0002a0001c0002t0010others(1): Show | a0001c0001t0035g0140 a0001c0002t0002g0170 a0001c0002t0010g0167 others(2): Show |
5 | 258 | 0.0194 | 35 | c.963 others(54): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215238848 | T | TAAATAAA others(28): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 HG03195.hp1 HG03491.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0014others(2): Show | a0001c0001t0002g0174 a0001c0001t0005g0160 a0001c0001t0014g0077 others(2): Show |
5 | 108 | 0.0463 | 35 | c.*37 others(46): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 1759 | chr1 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAATAT others(28): Show |
upstream_gene_variant | MODIFIER | HG03492.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0014 | 1 | 222 | 0.0045 | 35 | c.-12 others(46): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAATATAT others(28): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0176 | 1 | 222 | 0.0045 | 35 | c.-12 others(46): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758803 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090 | 1 | 214 | 0.0047 | 35 | c.-67 others(54): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759050 | T | TATATATA others(28): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 a0001c0001t0001g0161 |
2 | 212 | 0.0094 | 35 | c.-67 others(54): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNN2_chr5_114357070_114501496 | 114379656 | A | ATATTATA others(28): Show |
intron_variant | MODIFIER | NA18522.hp2 NA19043.hp2 NA20129.hp2 |
a0003 | a0003c0003a0003c0009 | a0003c0003t0001a0003c0009t0001 | a0003c0003t0001g0193 a0003c0003t0001g0196 a0003c0009t0001g0195 |
3 | 202 | 0.0149 | 35 | c.121 others(56): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154766416 | T | TTAATATA others(28): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 3 | 0.3333 | 35 | c.144 others(54): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132134531 | A | AGAGGGGA others(28): Show |
intron_variant | MODIFIER | HG02015.hp1 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0037a0001c0001t0069 | a0001c0001t0037g0028 a0001c0001t0069g0073 |
2 | 176 | 0.0114 | 35 | c.170 others(52): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 12/14 | chr8 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132303578 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0110 | a0001c0001t0110g0164 | 1 | 176 | 0.0057 | 35 | c.387 others(56): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132403016 | C | CAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02615.hp2 HG03209.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0029a0001c0001t0046a0001c0001t0053others(2): Show | a0001c0001t0029g0135 a0001c0001t0046g0044 a0001c0001t0053g0048 others(2): Show |
5 | 6 | 0.8333 | 35 | c.386 others(54): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNT1_chr9_135697185_135800502 | 135726942 | C | CCTCTCTT others(28): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 56 | 0.0179 | 35 | c.254 others(54): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135732024 | A | AGGAGAGG others(28): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 137 | 0.0073 | 35 | c.254 others(54): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196284248 | A | AAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 29 | 0.0345 | 35 | c.269 others(54): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | TogoVar |