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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KATNA1_chr6_149589873_149653714 | 149626292 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG02132.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0028 others(11): Show |
16 | 110 | 0.1455 | 9 | c.321 others(26): Show |
KATNA1 | ENSG00000186625.14 | transcript | ENST00000367411.7 | protein_coding | 3/10 | chr6 | TogoVar | |||||||
KATNBL1_chr15_34135674_34215096 | 34137036 | G | GAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG02015.hp1 HG02074.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0043 others(18): Show |
21 | 34 | 0.6176 | 9 | c.*53 others(20): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 3637 | chr15 | TogoVar | |||||||
KATNBL1_chr15_34135674_34215096 | 34184305 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00544.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0028 a0001c0001t0002g0208 a0001c0001t0002g0209 others(31): Show |
34 | 240 | 0.1417 | 9 | c.-14 others(28): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
KATNBL1_chr15_34135674_34215096 | 34184576 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(132): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(4): Show | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0031 others(132): Show |
135 | 146 | 0.9247 | 9 | c.-14 others(28): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
KATNBL1_chr15_34135674_34215096 | 34193851 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00741.hp1 HG01361.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0039 others(21): Show |
24 | 34 | 0.7059 | 9 | c.-15 others(28): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
KAZN_chr1_14593685_15123043 | 14788469 | G | GCTTACAG others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02630.hp1 HG02809.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0023a0002c0002t0001 | a0001c0001t0003g0138 a0001c0001t0003g0146 a0001c0001t0023g0127 others(3): Show |
6 | 146 | 0.0411 | 9 | c.227 others(30): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14858203 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02572.hp2 HG02965.hp1 others(2): Show |
a0001a0002 | a0001c0003a0001c0008a0002c0002 | a0001c0003t0018a0001c0008t0009a0002c0002t0001 | a0001c0003t0018g0123 a0001c0008t0009g0120 a0002c0002t0001g0057 others(2): Show |
5 | 142 | 0.0352 | 9 | c.227 others(30): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14905845 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01099.hp1 HG01192.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0002a0002c0002t0001a0002c0007t0001 | a0001c0001t0002g0101 a0001c0001t0002g0102 a0002c0002t0001g0017 others(2): Show |
5 | 53 | 0.0943 | 9 | c.227 others(28): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14949155 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02572.hp1 HG02809.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0002g0145 a0001c0001t0003g0088 a0001c0001t0003g0146 others(2): Show |
5 | 51 | 0.0980 | 9 | c.227 others(28): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 15103522 | T | TGCAAATC others(2): Show |
intron_variant | MODIFIER | HG02572.hp2 HG06807.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0031a0001c0003t0018 | a0001c0001t0031g0049 a0001c0003t0018g0123 |
2 | 142 | 0.0141 | 9 | c.188 others(24): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 12/14 | chr1 | TogoVar | |||||||
KBTBD11_chr8_1968677_2011936 | 1987725 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01891.hp1 HG01934.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0019others(3): Show | a0001c0001t0002g0084 a0001c0001t0002g0276 a0001c0001t0004g0003 others(10): Show |
14 | 249 | 0.0562 | 9 | c.-90 others(30): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KBTBD12_chr3_127910232_127992666 | 127945164 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01891.hp1 HG02280.hp2 others(4): Show |
a0002a0003 | a0002c0003a0002c0004a0003c0002others(1): Show | a0002c0003t0008a0002c0004t0010a0003c0002t0002others(2): Show | a0002c0003t0008g0039 a0002c0004t0010g0260 a0003c0002t0002g0056 others(3): Show |
7 | 79 | 0.0886 | 9 | c.149 others(30): Show |
KBTBD12 | ENSG00000187715.13 | transcript | ENST00000405109.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KBTBD2_chr7_32863172_32896760 | 32863245 | C | CCCTCCTC others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(215): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(107): Show |
218 | 430 | 0.5070 | 9 | c.*60 others(20): Show |
KBTBD2 | ENSG00000170852.12 | transcript | ENST00000304056.9 | protein_coding | 4926 | chr7 | TogoVar | |||||||
KBTBD2_chr7_32863172_32896760 | 32891874 | G | GCCCGCCG others(2): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00642.hp2 others(88): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0010 others(42): Show |
91 | 417 | 0.2182 | 9 | c.-68 others(18): Show |
KBTBD2 | ENSG00000170852.12 | transcript | ENST00000304056.9 | protein_coding | 115 | chr7 | TogoVar | |||||||
KBTBD8_chr3_66993307_67016210 | 67012840 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG01099.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0027a0002c0002t0003a0002c0002t0025 | a0001c0001t0027g0030 a0002c0002t0003g0004 a0002c0002t0003g0006 others(3): Show |
20 | 160 | 0.1250 | 9 | c.*44 others(20): Show |
KBTBD8 | ENSG00000163376.11 | transcript | ENST00000417314.2 | protein_coding | 1631 | chr3 | TogoVar | |||||||
KCMF1_chr2_84966161_85064472 | 84974692 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG03831.hp2 NA18983.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0054a0001c0001t0056 | a0001c0001t0002g0022 a0001c0001t0002g0028 a0001c0001t0054g0222 others(1): Show |
4 | 240 | 0.0167 | 9 | c.16+ others(24): Show |
KCMF1 | ENSG00000176407.18 | transcript | ENST00000409785.9 | protein_coding | 1/6 | chr2 | TogoVar | |||||||
KCMF1_chr2_84966161_85064472 | 85026459 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG01169.hp1 HG03041.hp2 NA18946.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0171 a0001c0001t0001g0172 others(6): Show |
9 | 189 | 0.0476 | 9 | c.17- others(24): Show |
KCMF1 | ENSG00000176407.18 | transcript | ENST00000409785.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCMF1_chr2_84966161_85064472 | 85026492 | A | ATTATTAT others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01106.hp2 HG03834.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0031a0001c0001t0032others(3): Show | a0001c0001t0007g0007 a0001c0001t0007g0011 a0001c0001t0031g0012 others(4): Show |
7 | 261 | 0.0268 | 9 | c.17- others(24): 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(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG01167.hp2 HG01168.hp1 others(29): Show |
a0001a0012 | a0001c0001a0012c0014 | a0001c0001t0002a0001c0001t0005a0012c0014t0002 | a0001c0001t0002g0000 a0001c0001t0005g0000 a0012c0014t0002g0000 |
32 | 60 | 0.5333 | 9 | c.*32 others(20): Show |
KCNA5 | ENSG00000130037.5 | transcript | ENST00000252321.5 | protein_coding | 2499 | chr12 | TogoVar | |||||||
KCNAB1_chr3_156115578_156543605 | 156312703 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01884.hp2 HG02132.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0003 | a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0039 others(3): Show |
6 | 46 | 0.1304 | 9 | c.276 others(30): 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(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02647.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0011 | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(1): Show | a0001c0001t0001g0061 a0001c0001t0001g0100 a0001c0001t0004g0116 others(2): Show |
5 | 16 | 0.3125 | 9 | c.276 others(28): Show |
KCNAB1 | ENSG00000169282.19 | transcript | ENST00000490337.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNAB2_chr1_6040888_6106180 | 6059172 | A | ATACCTGT others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02258.hp1 HG02647.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0038others(2): Show | a0001c0001t0003g0253 a0001c0002t0001g0252 a0001c0002t0001g0254 others(5): Show |
8 | 358 | 0.0223 | 9 | c.218 others(26): Show |
KCNAB2 | ENSG00000069424.16 | transcript | ENST00000378083.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNB1_chr20_49358877_49487668 | 49378205 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01074.hp2 HG01928.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0030 a0001c0001t0001g0074 a0001c0001t0002g0024 others(16): Show |
19 | 153 | 0.1242 | 9 | c.568 others(26): Show |
KCNB1 | ENSG00000158445.10 | transcript | ENST00000371741.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
KCNB1_chr20_49358877_49487668 | 49382801 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(49): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(32): Show | a0001c0001t0001g0030 a0001c0001t0002g0021 a0001c0001t0002g0024 others(49): Show |
52 | 175 | 0.2971 | 9 | c.568 others(26): Show |
KCNB1 | ENSG00000158445.10 | transcript | ENST00000371741.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
KCNB1_chr20_49358877_49487668 | 49462073 | A | AATGATGA others(2): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03516.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0083 | a0001c0001t0007g0126 a0001c0001t0007g0128 a0001c0001t0083g0127 |
3 | 201 | 0.0149 | 9 | c.567 others(28): Show |
KCNB1 | ENSG00000158445.10 | transcript | ENST00000371741.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
KCNC2_chr12_75035078_75214839 | 75069129 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00738.hp1 HG00738.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(6): Show | a0001c0001t0001g0035 a0001c0001t0001g0053 a0001c0001t0001g0079 others(26): Show |
29 | 68 | 0.4265 | 9 | c.688 others(28): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
KCND2_chr7_120268175_120755337 | 120618280 | G | GTATACAA others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02486.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0027others(3): Show | a0001c0001t0001g0035 a0001c0001t0007g0037 a0001c0001t0007g0039 others(5): Show |
8 | 78 | 0.1026 | 9 | c.111 others(32): Show |
KCND2 | ENSG00000184408.10 | transcript | ENST00000331113.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KCND3_chr1_111765662_111994668 | 111846418 | T | TCTGCTGC others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0040 others(50): Show |
53 | 205 | 0.2585 | 9 | c.110 others(30): Show |
KCND3 | ENSG00000171385.11 | transcript | ENST00000302127.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
KCNG4_chr16_84213657_84245012 | 84236959 | G | GCCAGCTC others(2): Show |
conservative_inframe_insertion | MODERATE | HG00280.hp2 HG00423.hp2 HG02083.hp2 others(8): Show |
a0010a0012 | a0010c0018a0010c0053a0012c0021others(1): Show | a0010c0018t0002a0010c0018t0017a0010c0053t0017others(5): Show | a0010c0018t0002g0025 a0010c0018t0002g0104 a0010c0018t0002g0106 others(7): Show |
11 | 469 | 0.0235 | 9 | c.518 others(16): Show |
p.Glu others(13): Show |
KCNG4 | ENSG00000168418.8 | transcript | ENST00000308251.6 | protein_coding | 2/3 | 909/5503 | 526/1560 | 176/519 | chr16 | TogoVar | |||
KCNH1_chr1_210673314_211139148 | 210823964 | C | CTTTTTGT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01081.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0119 others(14): Show |
17 | 54 | 0.3148 | 9 | c.146 others(30): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210853946 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01891.hp2 HG02293.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0009a0001c0001t0013others(2): Show | a0001c0001t0004g0117 a0001c0001t0009g0002 a0001c0001t0009g0003 others(4): Show |
7 | 43 | 0.1628 | 9 | c.146 others(30): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210856803 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00733.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0002g0007 a0001c0001t0002g0031 a0001c0001t0002g0038 others(34): Show |
37 | 162 | 0.2284 | 9 | c.146 others(30): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 211016908 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG02809.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0002g0007 a0001c0001t0002g0018 a0001c0001t0002g0022 others(18): Show |
21 | 73 | 0.2877 | 9 | c.103 others(28): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 6/10 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 211050260 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00733.hp2 HG03239.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0003g0012 a0001c0001t0003g0091 a0001c0001t0004g0046 others(4): Show |
7 | 45 | 0.1556 | 9 | c.559 others(28): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 5/10 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 211050989 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01346.hp2 HG02300.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0038 a0001c0001t0002g0133 a0001c0001t0002g0134 others(15): Show |
18 | 19 | 0.9474 | 9 | c.559 others(28): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 5/10 | chr1 | TogoVar | |||||||
KCNH5_chr14_62694464_63050458 | 62709232 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01433.hp2 HG02040.hp2 others(6): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0021a0001c0009t0001 | a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0075 others(6): Show |
9 | 19 | 0.4737 | 9 | c.202 others(26): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 10/10 | chr14 | TogoVar | |||||||
KCNH7_chr2_162366407_162843767 | 162459007 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02132.hp2 HG02145.hp1 others(27): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(27): Show |
30 | 31 | 0.9677 | 9 | c.112 others(30): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 6/15 | chr2 | TogoVar | |||||||
KCNH7_chr2_162366407_162843767 | 162492878 | T | TGTTTGTT others(2): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02970.hp2 HG03225.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0033 a0003c0004t0001g0019 a0003c0004t0001g0080 |
3 | 98 | 0.0306 | 9 | c.112 others(30): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 6/15 | chr2 | TogoVar | |||||||
KCNH7_chr2_162366407_162843767 | 162601399 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02615.hp2 HG02717.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0040 others(4): Show |
7 | 11 | 0.6364 | 9 | c.308 others(28): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | |||||||
KCNH7_chr2_162366407_162843767 | 162689143 | C | CTATTATT others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG01261.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0003t0001a0001c0006t0001 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0059 others(9): Show |
12 | 71 | 0.1690 | 9 | c.307 others(30): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | |||||||
KCNH7_chr2_162366407_162843767 | 162722813 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02145.hp2 HG02622.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0002c0002t0001a0003c0004t0001 | a0001c0001t0001g0020 a0001c0001t0001g0046 a0001c0001t0001g0069 others(3): Show |
6 | 32 | 0.1875 | 9 | c.307 others(30): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | |||||||
KCNH7_chr2_162366407_162843767 | 162748863 | T | TCCCCTCC others(2): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02717.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0076 others(1): Show |
4 | 87 | 0.0460 | 9 | c.307 others(28): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | |||||||
KCNH8_chr3_19143510_19540642 | 19201231 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02572.hp2 HG03579.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0084 a0001c0001t0001g0104 a0001c0001t0002g0090 others(3): Show |
6 | 7 | 0.8571 | 9 | c.77- others(26): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNIP1_chr5_170499020_170741632 | 170526719 | C | CTTTTTTG others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02572.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0096 a0001c0001t0001g0097 others(8): Show |
11 | 174 | 0.0632 | 9 | c.61+ others(26): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNIP1_chr5_170499020_170741632 | 170568648 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01074.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0101 others(28): Show |
31 | 56 | 0.5536 | 9 | c.61+ others(26): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNIP1_chr5_170499020_170741632 | 170682784 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG00639.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0074 others(27): Show |
30 | 70 | 0.4286 | 9 | c.62- others(26): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 20729466 | A | AACTAATT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01123.hp1 HG01243.hp2 HG01517.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0002t0003a0001c0003t0003others(1): Show | a0001c0001t0003g0002 a0001c0001t0003g0018 a0001c0001t0003g0030 others(7): Show |
10 | 80 | 0.1250 | 9 | c.*61 others(18): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 9/9 | 615 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 20802145 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02922.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0012 | a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0056 others(2): Show |
5 | 78 | 0.0641 | 9 | c.289 others(28): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 3/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 20802187 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02451.hp2 HG02896.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0004others(1): Show | a0001c0001t0001g0051 a0001c0001t0001g0068 a0001c0001t0007g0016 others(2): Show |
5 | 80 | 0.0625 | 9 | c.289 others(28): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 3/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 20832826 | A | AGAAGGAA others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01123.hp1 HG01243.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0054 others(19): Show |
22 | 38 | 0.5789 | 9 | c.288 others(28): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 3/8 | chr4 | TogoVar |