regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KATNIP_chr16_27545144_27785344 | 27574793 | A | ACCTCAGG others(6): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(113): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0004a0001c0008others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(33): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(113): Show | 116 | 152 | 0.7632 | 13 | c.63+ others(26): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 2/27 | chr16 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14713797 | A | AAAAAGAA others(6): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0041 | 1 | 146 | 0.0069 | 13 | c.226 others(34): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14883338 | G | GAAAGAAA others(6): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 | 1 | 146 | 0.0069 | 13 | c.227 others(32): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14985245 | T | TGGTGGGA others(6): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01106.hp2 HG01891.hp2 others(12): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0011 | a0001c0001t0002a0001c0001t0003a0001c0001t0023others(5): Show | a0001c0001t0002g0006a0001c0001t0002g0026a0001c0001t0002g0102others(12): Show | 15 | 146 | 0.1027 | 13 | c.418 others(32): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 15046297 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03130.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0025a0002c0002t0001 | a0001c0001t0025g0093a0002c0002t0001g0062 | 2 | 146 | 0.0137 | 13 | c.726 others(30): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 15103519 | C | CACATGCA others(6): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG06807.hp2 |
a0001 | a0001c0001a0001c0003a0001c0018 | a0001c0001t0031a0001c0003t0018a0001c0018t0014 | a0001c0001t0031g0049a0001c0003t0018g0123a0001c0018t0014g0140 | 3 | 146 | 0.0206 | 13 | c.188 others(28): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 12/14 | chr1 | TogoVar | ||||||
KBTBD11_chr8_1968677_2011936 | 1993959 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG00408.hp2 HG03239.hp2 HG04115.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0195a0001c0001t0001g0225a0001c0001t0001g0239others(2): Show | 5 | 389 | 0.0129 | 13 | c.-90 others(32): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
KBTBD12_chr3_127910232_127992666 | 127945164 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0003 | a0003c0002 | a0003c0002t0006 | a0003c0002t0006g0076 | 1 | 402 | 0.0025 | 13 | c.149 others(34): Show |
KBTBD12 | ENSG00000187715.13 | transcript | ENST00000405109.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KBTBD3_chr11_106046098_106082347 | 106058753 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0152 | 1 | 366 | 0.0027 | 13 | c.233 others(28): Show |
KBTBD3 | ENSG00000182359.15 | transcript | ENST00000531837.2 | protein_coding | 3/3 | chr11 | TogoVar | ||||||
KCMF1_chr2_84966161_85064472 | 84974692 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0196 | 1 | 274 | 0.0037 | 13 | c.16+ others(28): Show |
KCMF1 | ENSG00000176407.18 | transcript | ENST00000409785.9 | protein_coding | 1/6 | chr2 | TogoVar | ||||||
KCMF1_chr2_84966161_85064472 | 84996430 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0194 | 1 | 274 | 0.0037 | 13 | c.16+ others(30): Show |
KCMF1 | ENSG00000176407.18 | transcript | ENST00000409785.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KCNA5_chr12_5038879_5051788 | 5049286 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01168.hp2 others(6): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0003a0001c0006t0003 | a0001c0001t0002g0000a0001c0001t0003g0000a0001c0006t0003g0000 | 9 | 452 | 0.0199 | 13 | c.*32 others(24): Show |
KCNA5 | ENSG00000130037.5 | transcript | ENST00000252321.5 | protein_coding | 2499 | chr12 | TogoVar | ||||||
KCNAB1_chr3_156115578_156543605 | 156139584 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0049 | 1 | 124 | 0.0081 | 13 | c.275 others(32): Show |
KCNAB1 | ENSG00000169282.19 | transcript | ENST00000490337.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNAB1_chr3_156115578_156543605 | 156312703 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02027.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0003 | a0001c0001t0005g0087a0001c0002t0003g0083a0001c0002t0003g0115 | 3 | 124 | 0.0242 | 13 | c.276 others(34): Show |
KCNAB1 | ENSG00000169282.19 | transcript | ENST00000490337.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNAB1_chr3_156115578_156543605 | 156338303 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01361.hp1 HG01361.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0103others(6): Show | 9 | 124 | 0.0726 | 13 | c.276 others(32): Show |
KCNAB1 | ENSG00000169282.19 | transcript | ENST00000490337.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNAB1_chr3_156115578_156543605 | 156387014 | C | CTCTCTTT others(6): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 124 | 0.0081 | 13 | c.276 others(32): Show |
KCNAB1 | ENSG00000169282.19 | transcript | ENST00000490337.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNAB1_chr3_156115578_156543605 | 156387014 | C | CTCTTTTT others(6): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02896.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054a0001c0001t0001g0056a0001c0001t0001g0088 | 3 | 124 | 0.0242 | 13 | c.276 others(32): Show |
KCNAB1 | ENSG00000169282.19 | transcript | ENST00000490337.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNB1_chr20_49358877_49487668 | 49364041 | T | TGTGTGTG others(6): Show |
3_prime_UTR_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0022 | 1 | 278 | 0.0036 | 13 | c.*89 others(24): Show |
KCNB1 | ENSG00000158445.10 | transcript | ENST00000371741.6 | protein_coding | 2/2 | 8941 | chr20 | TogoVar | |||||
KCNB1_chr20_49358877_49487668 | 49382801 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0119 | 1 | 278 | 0.0036 | 13 | c.568 others(30): Show |
KCNB1 | ENSG00000158445.10 | transcript | ENST00000371741.6 | protein_coding | 1/1 | chr20 | TogoVar | ||||||
KCNB1_chr20_49358877_49487668 | 49425670 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0100 | a0001c0001t0100g0048 | 1 | 278 | 0.0036 | 13 | c.568 others(32): Show |
KCNB1 | ENSG00000158445.10 | transcript | ENST00000371741.6 | protein_coding | 1/1 | chr20 | TogoVar | ||||||
KCNB2_chr8_72532225_72943349 | 72778733 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 164 | 0.0061 | 13 | c.580 others(34): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KCNB2_chr8_72532225_72943349 | 72851826 | G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02970.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0002 | a0001c0001t0005g0128a0001c0002t0002g0082 | 2 | 164 | 0.0122 | 13 | c.580 others(32): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KCNC2_chr12_75035078_75214839 | 75069129 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01516.hp1 HG01517.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0033a0001c0001t0001g0035a0001c0001t0001g0185others(5): Show | 8 | 316 | 0.0253 | 13 | c.688 others(32): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
KCNC2_chr12_75035078_75214839 | 75071937 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066a0001c0001t0001g0181 | 2 | 316 | 0.0063 | 13 | c.688 others(32): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
KCNC2_chr12_75035078_75214839 | 75086677 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0307 | 1 | 316 | 0.0032 | 13 | c.688 others(32): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
KCNC2_chr12_75035078_75214839 | 75086681 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 316 | 0.0032 | 13 | c.688 others(32): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
KCNC2_chr12_75035078_75214839 | 75138979 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01891.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0005a0001c0003t0018 | a0001c0001t0002g0030a0001c0001t0005g0003a0001c0003t0018g0293others(1): Show | 4 | 316 | 0.0127 | 13 | c.687 others(32): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
KCNC2_chr12_75035078_75214839 | 75181916 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156a0001c0001t0001g0199 | 2 | 316 | 0.0063 | 13 | c.687 others(32): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
KCNC2_chr12_75035078_75214839 | 75201262 | G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0293 | 1 | 316 | 0.0032 | 13 | c.687 others(30): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
KCNC4_chr1_110205314_110239044 | 110213170 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0342 | 1 | 430 | 0.0023 | 13 | c.678 others(30): Show |
KCNC4 | ENSG00000116396.15 | transcript | ENST00000438661.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCND2_chr7_120268175_120755337 | 120621276 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0008 | 1 | 80 | 0.0125 | 13 | c.111 others(36): Show |
KCND2 | ENSG00000184408.10 | transcript | ENST00000331113.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KCND2_chr7_120268175_120755337 | 120701240 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 80 | 0.0125 | 13 | c.111 others(34): Show |
KCND2 | ENSG00000184408.10 | transcript | ENST00000331113.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KCNE3_chr11_74449841_74472549 | 74456155 | A | ATATATAT others(6): Show |
3_prime_UTR_variant | MODIFIER | NA19076.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0106a0001c0001t0043g0179 | 2 | 446 | 0.0045 | 13 | c.*10 others(24): Show |
KCNE3 | ENSG00000175538.11 | transcript | ENST00000310128.9 | protein_coding | 3/3 | 1096 | chr11 | TogoVar | |||||
KCNE4_chr2_223047190_223060637 | 223051648 | A | ACCCCCCC others(6): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0003 | 1 | 358 | 0.0028 | 13 | c.-65 others(22): Show |
KCNE4 | ENSG00000152049.7 | transcript | ENST00000281830.4 | protein_coding | 541 | chr2 | TogoVar | ||||||
KCNG3_chr2_42437017_42498982 | 42452243 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG00673.hp2 NA18991.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0069a0001c0001t0003g0231 | 2 | 342 | 0.0059 | 13 | c.666 others(30): Show |
KCNG3 | ENSG00000171126.8 | transcript | ENST00000306078.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
KCNG3_chr2_42437017_42498982 | 42452243 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01070.hp1 NA18959.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029a0001c0001t0003g0290 | 2 | 342 | 0.0059 | 13 | c.666 others(30): Show |
KCNG3 | ENSG00000171126.8 | transcript | ENST00000306078.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
KCNG3_chr2_42437017_42498982 | 42452243 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0101 | 1 | 342 | 0.0029 | 13 | c.666 others(30): Show |
KCNG3 | ENSG00000171126.8 | transcript | ENST00000306078.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
KCNG4_chr16_84213657_84245012 | 84242150 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00544.hp2 others(36): Show |
a0001a0002a0006others(5): Show | a0001c0001a0001c0002a0002c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(20): Show | a0001c0001t0001g0038a0001c0001t0001g0289a0001c0001t0002g0014others(31): Show | 39 | 472 | 0.0826 | 13 | c.-25 others(24): Show |
KCNG4 | ENSG00000168418.8 | transcript | ENST00000308251.6 | protein_coding | 2139 | chr16 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 210716431 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03453.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0156a0001c0001t0005g0013 | 2 | 164 | 0.0122 | 13 | c.211 others(34): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 10/10 | chr1 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 210806824 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 | 1 | 164 | 0.0061 | 13 | c.146 others(32): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 210853946 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 NA18961.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0038a0001c0001t0002g0040a0001c0001t0003g0016others(2): Show | 5 | 164 | 0.0305 | 13 | c.146 others(34): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 210917275 | G | GAAAGAAA others(6): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0139 | 1 | 164 | 0.0061 | 13 | c.146 others(32): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 211035236 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0035 | 1 | 164 | 0.0061 | 13 | c.559 others(32): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 5/10 | chr1 | TogoVar | ||||||
KCNH4_chr17_42151891_42186142 | 42152109 | T | TTGCTTTA others(6): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0252 | 1 | 326 | 0.0031 | 13 | c.*53 others(24): Show |
KCNH4 | ENSG00000089558.9 | transcript | ENST00000264661.4 | protein_coding | 4781 | chr17 | TogoVar | ||||||
KCNH5_chr14_62694464_63050458 | 62709232 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0062a0001c0001t0006g0009 | 2 | 224 | 0.0089 | 13 | c.202 others(30): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 10/10 | chr14 | TogoVar | ||||||
KCNH5_chr14_62694464_63050458 | 62840566 | C | CTTTTCTT others(6): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0128 | 1 | 224 | 0.0045 | 13 | c.156 others(32): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 8/10 | chr14 | TogoVar | ||||||
KCNH5_chr14_62694464_63050458 | 62870091 | T | TGTAGCTG others(6): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01496.hp1 HG01884.hp1 others(8): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0007 | a0001c0001t0005a0001c0001t0006a0001c0001t0017others(6): Show | a0001c0001t0005g0154a0001c0001t0006g0009a0001c0001t0006g0147others(8): Show | 11 | 224 | 0.0491 | 13 | c.137 others(34): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 7/10 | chr14 | TogoVar | ||||||
KCNH5_chr14_62694464_63050458 | 62910941 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0172 | 1 | 224 | 0.0045 | 13 | c.136 others(34): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 7/10 | chr14 | TogoVar | ||||||
KCNH5_chr14_62694464_63050458 | 62987671 | G | GGAAGGAT others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00544.hp1 others(125): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0023a0001c0001t0001g0061a0001c0001t0001g0080others(125): Show | 128 | 224 | 0.5714 | 13 | c.434 others(28): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 4/10 | chr14 | TogoVar | ||||||
KCNH5_chr14_62694464_63050458 | 62987671 | G | GTAAGGAT others(6): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0222 | 1 | 224 | 0.0045 | 13 | c.434 others(28): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 4/10 | chr14 | TogoVar |