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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ITIH5_chr10_7554270_7671966 | 7644760 | ACATATAT others(22): Show |
A | intron_variant | MODIFIER | HG02015.hp1 NA19005.hp2 NA19068.hp1 |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0001a0003c0002t0046 | a0001c0001t0001g0274a0003c0002t0001g0273a0003c0002t0046g0272 | 3 | 342 | 0.0088 | -29 | c.136 others(46): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
ITPK1_chr14_92931914_93120925 | 93059271 | GGCAGGGG others(22): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02486.hp1 |
a0001 | a0001c0003 | a0001c0003t0014a0001c0003t0073 | a0001c0003t0014g0167a0001c0003t0073g0168 | 2 | 243 | 0.0082 | -29 | c.120 others(48): Show |
ITPK1 | ENSG00000100605.17 | transcript | ENST00000267615.11 | protein_coding | 3/10 | chr14 | TogoVar | ||||||
ITPK1_chr14_92931914_93120925 | 93059663 | CGGTCACG others(22): Show |
C | intron_variant | MODIFIER | HG01978.hp2 HG02273.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060a0001c0001t0001g0089 | 2 | 243 | 0.0082 | -29 | c.120 others(48): Show |
ITPK1 | ENSG00000100605.17 | transcript | ENST00000267615.11 | protein_coding | 3/10 | chr14 | TogoVar | ||||||
ITPK1_chr14_92931914_93120925 | 93059750 | GGGTCACG others(22): Show |
G | intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0211 | 1 | 243 | 0.0041 | -29 | c.120 others(48): Show |
ITPK1 | ENSG00000100605.17 | transcript | ENST00000267615.11 | protein_coding | 3/10 | chr14 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26589796 | AATAAATA others(22): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02970.hp2 HG03209.hp2 |
a0002a0012 | a0002c0017a0012c0068 | a0002c0017t0018a0012c0068t0004 | a0002c0017t0018g0108a0002c0017t0018g0109a0012c0068t0004g0105 | 3 | 142 | 0.0211 | -29 | c.438 others(48): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 32/56 | chr12 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31599621 | CTTTCTTT others(22): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG01069.hp1 others(26): Show |
a0001a0002a0003others(4): Show | a0001c0003a0002c0001a0003c0005others(9): Show | a0001c0003t0001a0002c0001t0001a0002c0001t0002others(14): Show | a0001c0003t0001g0031a0002c0001t0001g0194a0002c0001t0002g0009others(26): Show | 29 | 312 | 0.0930 | -29 | c.122 others(50): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 10/14 | chr7 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31599635 | TTCTTTCT others(22): Show |
T | intron_variant | MODIFIER | HG01361.hp2 HG01516.hp1 HG04204.hp1 others(4): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0002a0001c0003t0002a0002c0001t0003others(2): Show | a0001c0002t0002g0163a0001c0003t0002g0021a0002c0001t0003g0178others(4): Show | 7 | 312 | 0.0224 | -29 | c.122 others(50): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
IYD_chr6_150364012_150410969 | 150367961 | CTTTCTTT others(22): Show |
C | upstream_gene_variant | MODIFIER | HG02818.hp1 HG02886.hp1 |
a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0074a0002c0002t0020g0075 | 2 | 414 | 0.0048 | -29 | c.-10 others(40): Show |
IYD | ENSG00000009765.15 | transcript | ENST00000344419.8 | protein_coding | 1050 | chr6 | TogoVar | ||||||
IZUMO4_chr19_2091915_2104590 | 2104470 | ACCAATGC others(22): Show |
A | downstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 454 | 0.0022 | -29 | c.*51 others(40): Show |
IZUMO4 | ENSG00000099840.14 | transcript | ENST00000395301.8 | protein_coding | 4881 | chr19 | TogoVar | ||||||
JAG2_chr14_105135995_105173776 | 105164479 | AGTGTGCA others(22): Show |
A | intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 364 | 0.0028 | -29 | c.417 others(46): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 2/25 | chr14 | TogoVar | ||||||
JAKMIP2_chr5_147580438_147787728 | 147700047 | TCAAAACC others(22): Show |
T | intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0238 | 1 | 250 | 0.0040 | -29 | c.-14 others(50): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132157447 | CATTTCTG others(22): Show |
C | intron_variant | MODIFIER | NA20752.hp1 | a0005 | a0005c0050 | a0005c0050t0034 | a0005c0050t0034g0115 | 1 | 158 | 0.0063 | -29 | c.222 others(48): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132158643 | AGATGCTG others(22): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0032 | a0001c0032t0037 | a0001c0032t0037g0124 | 1 | 158 | 0.0063 | -29 | c.222 others(48): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132160295 | GGTCTATT others(22): Show |
G | intron_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0018 | a0003c0018t0003 | a0003c0018t0003g0015 | 1 | 158 | 0.0063 | -29 | c.222 others(48): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160652 | TGGTGGGG others(22): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG01175.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0002c0008others(1): Show | a0001c0001t0004a0002c0004t0004a0002c0008t0004others(1): Show | a0001c0001t0004g0127a0002c0004t0004g0038a0002c0004t0004g0040others(3): Show | 6 | 158 | 0.0380 | -29 | c.222 others(48): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JMJD1C_chr10_63162225_63470977 | 63337584 | AAAAGAAA others(22): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG03098.hp1 NA18966.hp1 |
a0001a0002 | a0001c0008a0002c0002 | a0001c0008t0001a0002c0002t0001 | a0001c0008t0001g0302a0001c0008t0001g0303a0002c0002t0001g0248 | 3 | 310 | 0.0097 | -29 | c.333 others(48): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | ||||||
JMY_chr5_79231131_79332211 | 79270365 | GTATATTT others(22): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp1 HG02896.hp1 others(2): Show |
a0002a0006 | a0002c0002a0002c0006a0006c0009 | a0002c0002t0045a0002c0006t0008a0006c0009t0008 | a0002c0002t0045g0045a0002c0006t0008g0014a0006c0009t0008g0006others(2): Show | 5 | 342 | 0.0146 | -29 | c.103 others(48): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
JMY_chr5_79231131_79332211 | 79270591 | TTAAAATG others(22): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG02155.hp2 NA18747.hp2 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0019a0003c0004t0005g0023a0003c0004t0005g0034others(1): Show | 4 | 342 | 0.0117 | -29 | c.103 others(48): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
JOSD2_chr19_50500998_50516191 | 50513457 | GGGGGACA others(22): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142a0001c0001t0001g0170 | 2 | 376 | 0.0053 | -29 | c.-23 others(40): Show |
JOSD2 | ENSG00000161677.12 | transcript | ENST00000598418.6 | protein_coding | 2267 | chr19 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8332830 | ATAAAATA others(22): Show |
A | intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 406 | 0.0025 | -29 | c.193 others(46): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 7/10 | chr19 | TogoVar | ||||||
KANSL1L_chr2_210016421_210176409 | 210069789 | CTTTTTTT others(22): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(94): Show |
a0001a0003a0006 | a0001c0001a0001c0003a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0027a0001c0001t0001g0035a0001c0001t0001g0039others(94): Show | 97 | 284 | 0.3416 | -29 | c.175 others(48): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 6/14 | chr2 | TogoVar | ||||||
KANTR_chrX_53089142_53132438 | 53102280 | TTTCACTA others(22): Show |
T | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0065 | 1 | 249 | 0.0040 | -29 | c.-80 others(48): Show |
KANTR | ENSG00000232593.8 | transcript | ENST00000604062.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KASH5_chr19_49383249_49422990 | 49386777 | GGAGGGGA others(22): Show |
G | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0156a0001c0005t0006g0159a0001c0005t0006g0161others(5): Show | 8 | 354 | 0.0226 | -29 | c.-16 others(40): Show |
KASH5 | ENSG00000161609.10 | transcript | ENST00000447857.8 | protein_coding | 1471 | chr19 | TogoVar | ||||||
KASH5_chr19_49383249_49422990 | 49414674 | CCCCCCAG others(22): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00733.hp1 HG01069.hp1 others(43): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0139a0001c0001t0002g0003a0001c0001t0002g0213others(37): Show | 46 | 354 | 0.1299 | -29 | c.132 others(46): Show |
KASH5 | ENSG00000161609.10 | transcript | ENST00000447857.8 | protein_coding | 16/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KASH5_chr19_49383249_49422990 | 49414821 | CCCCAGGC others(22): Show |
C | intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0086 | 1 | 354 | 0.0028 | -29 | c.132 others(46): Show |
KASH5 | ENSG00000161609.10 | transcript | ENST00000447857.8 | protein_coding | 16/19 | chr19 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20106987 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024 | 1 | 374 | 0.0027 | -29 | c.852 others(46): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT2B_chr3_20035446_20159404 | 20106989 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp1 HG01074.hp2 others(9): Show |
a0001a0009 | a0001c0004a0001c0007a0009c0014 | a0001c0004t0001a0001c0004t0004a0001c0004t0007others(2): Show | a0001c0004t0001g0165a0001c0004t0001g0166a0001c0004t0001g0168others(9): Show | 12 | 374 | 0.0321 | -29 | c.852 others(46): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT2B_chr3_20035446_20159404 | 20106991 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG01123.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001a0001c0004t0007others(1): Show | a0001c0001t0001g0172a0001c0001t0001g0177a0001c0004t0001g0204others(3): Show | 6 | 374 | 0.0160 | -29 | c.852 others(46): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT2B_chr3_20035446_20159404 | 20106995 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0227 | 1 | 374 | 0.0027 | -29 | c.852 others(46): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT6B_chr10_74821600_75037624 | 74958154 | TGTTGTCC others(22): Show |
T | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0188 | 1 | 236 | 0.0042 | -29 | c.622 others(46): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14681637 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0016 | 1 | 146 | 0.0069 | -29 | c.226 others(48): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14681649 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0041 | 1 | 146 | 0.0069 | -29 | c.226 others(48): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14918696 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 146 | 0.0069 | -29 | c.227 others(48): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KBTBD11_chr8_1968677_2011936 | 2009701 | ATGCACTC others(22): Show |
A | downstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0232 | 1 | 389 | 0.0026 | -29 | c.*66 others(40): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 2766 | chr8 | TogoVar | ||||||
KBTBD2_chr7_32863172_32896760 | 32891845 | CTTGTCAG others(22): Show |
C | upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 434 | 0.0023 | -29 | c.-67 others(38): Show |
KBTBD2 | ENSG00000170852.12 | transcript | ENST00000304056.9 | protein_coding | 86 | chr7 | TogoVar | ||||||
KCMF1_chr2_84966161_85064472 | 85008321 | CATATATA others(22): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0061a0001c0001t0069 | a0001c0001t0061g0194a0001c0001t0069g0193 | 2 | 274 | 0.0073 | -29 | c.17- others(46): Show |
KCMF1 | ENSG00000176407.18 | transcript | ENST00000409785.9 | protein_coding | 1/6 | chr2 | TogoVar | ||||||
KCNB2_chr8_72532225_72943349 | 72597001 | CTTTTTTT others(22): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0129 | 1 | 164 | 0.0061 | -29 | c.579 others(48): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KCNE1_chr21_34441690_34517210 | 34445674 | CTCTGTCT others(22): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01106.hp1 HG01106.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(10): Show | 13 | 18 | 0.7222 | -29 | c.*35 others(40): Show |
KCNE1 | ENSG00000180509.13 | transcript | ENST00000399286.3 | protein_coding | 1015 | chr21 | TogoVar | ||||||
KCNE2_chr21_34359006_34376381 | 34368238 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0092 | 1 | 434 | 0.0023 | -29 | c.-12 others(46): Show |
KCNE2 | ENSG00000159197.4 | transcript | ENST00000290310.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
KCNE2_chr21_34359006_34376381 | 34368248 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 434 | 0.0023 | -29 | c.-12 others(46): Show |
KCNE2 | ENSG00000159197.4 | transcript | ENST00000290310.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79849896 | GCGAGACC others(22): Show |
G | intron_variant | MODIFIER | HG02258.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0133a0001c0001t0002g0202 | 2 | 312 | 0.0064 | -29 | c.-11 others(48): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNH2_chr7_150939961_150983321 | 150978919 | CACACACA others(22): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 1 | 358 | 0.0028 | -29 | c.-10 others(40): Show |
KCNH2 | ENSG00000055118.17 | transcript | ENST00000262186.10 | protein_coding | 599 | chr7 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21400523 | CTCTTCTC others(22): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01123.hp2 HG02145.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0017a0001c0001t0002g0035a0001c0001t0002g0036others(7): Show | 10 | 80 | 0.1250 | -29 | c.62- others(48): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21528778 | AGGAAGAA others(22): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 80 | 0.0125 | -29 | c.61+ others(48): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNJ4_chr22_38421327_38460199 | 38452364 | GACTTTCT others(22): Show |
G | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 | 1 | 380 | 0.0026 | -29 | c.-40 others(46): Show |
KCNJ4 | ENSG00000168135.4 | transcript | ENST00000303592.3 | protein_coding | 1/1 | chr22 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37667614 | GGGGTAGC others(22): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0019a0001c0001t0060a0001c0001t0061others(33): Show | a0001c0001t0019g0032a0001c0001t0060g0113a0001c0001t0061g0172others(36): Show | 39 | 198 | 0.1970 | -29 | c.947 others(48): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | ||||||
KCNK13_chr14_90056994_90190853 | 90158058 | ACTCCTGC others(22): Show |
A | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 320 | 0.0031 | -29 | c.335 others(48): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KCNN1_chr19_17962107_18005085 | 17970289 | ATTTTTTT others(22): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0074 | 1 | 378 | 0.0027 | -29 | c.-82 others(46): Show |
KCNN1 | ENSG00000105642.16 | transcript | ENST00000684775.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KCNN2_chr5_114357070_114501496 | 114379637 | GTAGAATA others(22): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG02886.hp2 HG02895.hp1 others(1): Show |
a0002a0007a0008 | a0002c0014a0007c0010a0008c0013 | a0002c0014t0001a0007c0010t0001a0008c0013t0001 | a0002c0014t0001g0017a0007c0010t0001g0191a0007c0010t0001g0192others(1): Show | 4 | 250 | 0.0160 | -29 | c.121 others(50): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
KCNQ1_chr11_2440008_2854105 | 2560238 | TGGGGGGG others(22): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG01070.hp2 HG01071.hp2 others(13): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0154others(13): Show | 16 | 208 | 0.0769 | -29 | c.478 others(48): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |