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 | 20149495 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0302 | 1 | 45 | 0.0222 | 27 | c.230 others(46): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KATNA1_chr6_149589873_149653714 | 149613179 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02040.hp1 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0079 |
2 | 51 | 0.0392 | 27 | c.502 others(44): Show |
KATNA1 | ENSG00000186625.14 | transcript | ENST00000367411.7 | protein_coding | 4/10 | chr6 | TogoVar | |||||||
KATNBL1_chr15_34135674_34215096 | 34195690 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03209.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0033 a0001c0001t0002g0340 a0001c0001t0004g0235 |
3 | 273 | 0.0110 | 27 | c.-15 others(46): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
KAZN_chr1_14593685_15123043 | 14695510 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG01258.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0003t0018a0002c0002t0001others(1): Show | a0001c0001t0002g0060 a0001c0001t0002g0122 a0001c0001t0002g0137 others(8): Show |
11 | 74 | 0.1486 | 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 | 14883318 | A | AGAGAGAG others(20): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0020 | 1 | 77 | 0.0130 | 27 | c.227 others(46): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | chr1 | TogoVar | |||||||
KAZN_chr1_14593685_15123043 | 14883342 | G | GAGAGAGA others(20): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0072 | 1 | 134 | 0.0075 | 27 | c.227 others(46): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 15112587 | A | AAGGTCTT others(20): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(66): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0001g0067 others(66): Show |
69 | 146 | 0.4726 | 27 | c.216 others(42): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KBTBD11_chr8_1968677_2011936 | 1969172 | A | ATATATTT others(20): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 360 | 0.0028 | 27 | c.-56 others(38): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 4504 | chr8 | TogoVar | |||||||
KBTBD2_chr7_32863172_32896760 | 32891887 | G | GCCGCCCC others(20): Show |
upstream_gene_variant | MODIFIER | NA19003.hp2 NA19078.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0155 a0001c0001t0003g0156 |
2 | 368 | 0.0054 | 27 | c.-69 others(36): Show |
KBTBD2 | ENSG00000170852.12 | transcript | ENST00000304056.9 | protein_coding | 128 | chr7 | TogoVar | |||||||
KCNAB1_chr3_156115578_156543605 | 156156284 | G | GTGTAGGC others(20): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02129.hp1 HG02559.hp2 |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0002t0008a0001c0007t0009 | a0001c0001t0001g0121 a0001c0002t0008g0001 a0001c0007t0009g0119 |
3 | 124 | 0.0242 | 27 | c.275 others(46): Show |
KCNAB1 | ENSG00000169282.19 | transcript | ENST00000490337.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNB1_chr20_49358877_49487668 | 49425670 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01433.hp2 HG02622.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0001t0051a0001c0001t0059others(4): Show | a0001c0001t0012g0121 a0001c0001t0012g0253 a0001c0001t0051g0101 others(5): Show |
8 | 132 | 0.0606 | 27 | c.568 others(46): Show |
KCNB1 | ENSG00000158445.10 | transcript | ENST00000371741.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
KCNC2_chr12_75035078_75214839 | 75138979 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01884.hp2 HG01978.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0043 a0001c0001t0001g0211 a0001c0001t0001g0256 others(4): Show |
7 | 65 | 0.1077 | 27 | c.687 others(46): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210806824 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0111 | 1 | 127 | 0.0079 | 27 | c.146 others(46): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
KCNH5_chr14_62694464_63050458 | 62853460 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01433.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0003 | a0001c0001t0005g0028 a0002c0002t0003g0116 |
2 | 213 | 0.0094 | 27 | c.137 others(46): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 7/10 | chr14 | TogoVar | |||||||
KCNH5_chr14_62694464_63050458 | 62853494 | A | ATATATGA others(20): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0151 | 1 | 145 | 0.0069 | 27 | c.137 others(46): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 7/10 | chr14 | TogoVar | |||||||
KCNH7_chr2_162366407_162843767 | 162741243 | T | TATGTTAT others(20): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 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 | G | GTTCAAAG others(20): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 28 | 0.0357 | 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 | 170568648 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019 a0001c0001t0002g0055 |
2 | 27 | 0.0741 | 27 | c.61+ others(44): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNIP1_chr5_170499020_170741632 | 170633715 | G | GGGGGCGG others(20): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 217 | 0.0046 | 27 | c.62- others(44): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 20988000 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073 | 1 | 29 | 0.0345 | 27 | c.62- others(46): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21147939 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0077 | 1 | 55 | 0.0182 | 27 | c.62- others(46): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21147962 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0011 | 1 | 62 | 0.0161 | 27 | c.62- others(46): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21320964 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01517.hp2 HG02145.hp2 HG02809.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0002t0001others(1): Show | a0001c0001t0001g0017 a0001c0001t0011g0003 a0001c0002t0001g0006 others(1): Show |
4 | 32 | 0.1250 | 27 | c.62- others(46): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNJ10_chr1_160032467_160075160 | 160048227 | G | GGCCCCCC others(20): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 92 | 0.0109 | 27 | c.1-5 others(40): Show |
KCNJ10 | ENSG00000177807.10 | transcript | ENST00000644903.1 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
KCNJ18_chr17_21687523_21709612 | 21701525 | A | ATGTGGGT others(20): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01517.hp1 HG01517.hp2 others(40): Show |
a0002a0008a0011others(1): Show | a0002c0002a0002c0005a0002c0008others(3): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0008others(8): Show | a0002c0002t0002g0003 a0002c0002t0002g0007 a0002c0002t0002g0020 others(26): Show |
43 | 110 | 0.3909 | 27 | c.-56 others(44): Show |
KCNJ18 | ENSG00000260458.3 | transcript | ENST00000567955.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KCNJ4_chr22_38421327_38460199 | 38432280 | T | TAAATAAA others(20): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0206 | 1 | 350 | 0.0029 | 27 | c.-39 others(44): Show |
KCNJ4 | ENSG00000168135.4 | transcript | ENST00000303592.3 | protein_coding | 1/1 | chr22 | TogoVar | |||||||
KCNK13_chr14_90056994_90190853 | 90101790 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 62 | 0.0161 | 27 | c.334 others(46): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KCNK13_chr14_90056994_90190853 | 90143176 | T | TTTCTTTC others(20): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02071.hp1 NA18940.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0014 a0001c0001t0001g0087 a0001c0001t0001g0301 others(2): Show |
5 | 231 | 0.0216 | 27 | c.335 others(46): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KCNK18_chr10_117192489_117215299 | 117192734 | C | CTTTTTTT others(20): Show |
upstream_gene_variant | MODIFIER | NA18951.hp2 NA18960.hp2 NA18975.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003 a0003c0003t0001g0047 a0003c0003t0001g0119 |
6 | 243 | 0.0247 | 27 | c.-47 others(38): Show |
KCNK18 | ENSG00000186795.1 | transcript | ENST00000334549.1 | protein_coding | 4754 | chr10 | TogoVar | |||||||
KCNK1_chr1_233609106_233677514 | 233628760 | A | AAATAATA others(20): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01175.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0170 others(8): Show |
11 | 293 | 0.0375 | 27 | c.355 others(46): Show |
KCNK1 | ENSG00000135750.15 | transcript | ENST00000366621.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215209484 | A | ATAATATA others(20): Show |
intron_variant | MODIFIER | HG03654.hp2 NA19086.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0063a0001c0003t0018 | a0001c0001t0063g0159 a0001c0003t0018g0002 |
2 | 237 | 0.0084 | 27 | c.963 others(46): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAAAAA others(20): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0086 | 1 | 222 | 0.0045 | 27 | c.-12 others(38): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAAAAA others(20): Show |
upstream_gene_variant | MODIFIER | NA19010.hp2 | a0003 | a0003c0003 | a0003c0003t0008 | a0003c0003t0008g0181 | 1 | 222 | 0.0045 | 27 | c.-12 others(38): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAAAAA others(20): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0194 | 1 | 222 | 0.0045 | 27 | c.-12 others(38): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAAAAT others(20): Show |
upstream_gene_variant | MODIFIER | NA18974.hp2 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0089 | a0001c0001t0032g0098 a0001c0001t0089g0198 |
2 | 223 | 0.0090 | 27 | c.-12 others(38): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAATATAT others(20): Show |
upstream_gene_variant | MODIFIER | NA18980.hp1 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0001 a0001c0001t0017g0170 |
2 | 223 | 0.0090 | 27 | c.-12 others(38): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | ATATATAT others(20): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 HG03453.hp1 NA18984.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0007a0001c0001t0014a0004c0004t0030 | a0001c0001t0007g0048 a0001c0001t0014g0012 a0004c0004t0030g0164 |
3 | 224 | 0.0134 | 27 | c.-12 others(38): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178691107 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0018 | 1 | 43 | 0.0233 | 27 | c.-67 others(48): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758933 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03209.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0106 a0001c0001t0002g0087 a0001c0001t0003g0085 |
3 | 226 | 0.0133 | 27 | c.-67 others(46): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759212 | A | ACACACAC others(20): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01515.hp1 HG03017.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0122 a0001c0001t0003g0130 a0001c0001t0003g0180 others(1): Show |
4 | 209 | 0.0191 | 27 | c.-67 others(46): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154869723 | G | GGCTGCTG others(20): Show |
conservative_inframe_insertion | MODERATE | HG02055.hp2 HG02683.hp1 HG02976.hp2 others(1): Show |
a0011 | a0011c0023a0011c0024 | a0011c0023t0067a0011c0023t0120a0011c0024t0012others(1): Show | a0011c0023t0067g0007 a0011c0023t0120g0237 a0011c0024t0012g0008 others(1): Show |
4 | 16 | 0.2500 | 27 | c.215 others(34): Show |
p.Gln others(11): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 1/8 | 558/13034 | 241/2196 | 81/731 | chr1 | TogoVar | |||
KCNQ2_chr20_63395208_63477655 | 63442767 | T | TCACCACC others(20): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0286 | 1 | 320 | 0.0031 | 27 | c.691 others(42): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132187770 | A | AGTGATAG others(20): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02615.hp2 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0021a0001c0001t0029others(1): Show | a0001c0001t0019g0041 a0001c0001t0019g0043 a0001c0001t0021g0055 others(3): Show |
6 | 175 | 0.0343 | 27 | c.387 others(44): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132187903 | A | ATTGTGGT others(20): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02257.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017a0001c0001t0020others(7): Show | a0001c0001t0003g0157 a0001c0001t0017g0139 a0001c0001t0020g0050 others(7): Show |
10 | 175 | 0.0571 | 27 | c.387 others(44): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132403016 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0009 | 1 | 2 | 0.5000 | 27 | c.386 others(46): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ4_chr1_40778787_40845452 | 40814046 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0170 | 1 | 138 | 0.0072 | 27 | c.315 others(44): Show |
KCNQ4 | ENSG00000117013.17 | transcript | ENST00000347132.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 73146626 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0062 | 1 | 30 | 0.0333 | 27 | c.146 others(48): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196284248 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01891.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0065 |
2 | 30 | 0.0667 | 27 | c.269 others(46): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | TogoVar | |||||||
KCNT2_chr1_196220779_196613440 | 196284248 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0068 | 1 | 29 | 0.0345 | 27 | c.269 others(46): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | TogoVar | |||||||
KCNT2_chr1_196220779_196613440 | 196284248 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02258.hp1 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 a0001c0001t0001g0090 |
2 | 30 | 0.0667 | 27 | c.269 others(46): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | TogoVar |