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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KAZN_chr1_14593685_15123043 | 15050023 | GAGTAGGG others(53): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(23): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0006others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(14): Show | a0001c0001t0003g0136 a0001c0001t0004g0009 a0001c0001t0007g0021 others(23): Show |
26 | 146 | 0.1781 | -60 | c.726 others(77): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KBTBD11_chr8_1968677_2011936 | 1969037 | ATCTATTT others(53): Show |
A | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01243.hp1 HG02257.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0002a0001c0001t0044a0001c0001t0070others(1): Show | a0001c0001t0002g0077 a0001c0001t0044g0334 a0001c0001t0070g0093 others(1): Show |
4 | 389 | 0.0103 | -60 | c.-58 others(71): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 4639 | chr8 | TogoVar | |||||||
KBTBD11_chr8_1968677_2011936 | 2008188 | GTCAGATG others(53): Show |
G | downstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0149 | 1 | 389 | 0.0026 | -60 | c.*51 others(71): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1253 | chr8 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79807749 | TGCCCAGA others(53): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG02486.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0109 a0002c0002t0001g0199 |
2 | 312 | 0.0064 | -60 | c.-11 others(79): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79807765 | CCTGAGGA others(53): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp1 HG01884.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0002a0002c0004t0001 | a0001c0001t0001g0028 a0001c0001t0001g0083 a0001c0001t0001g0130 others(12): Show |
15 | 312 | 0.0481 | -60 | c.-11 others(79): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79807885 | TCTGAGGA others(53): Show |
T | intron_variant | MODIFIER | HG06807.hp2 NA19010.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0176 a0003c0006t0001g0071 |
2 | 312 | 0.0064 | -60 | c.-11 others(79): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79808005 | TCTGAGGA others(53): Show |
T | intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 312 | 0.0032 | -60 | c.-11 others(81): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79808050 | TCCCAGAG others(53): Show |
T | intron_variant | MODIFIER | HG02027.hp2 NA18959.hp2 NA19085.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0029 a0002c0002t0001g0030 a0002c0002t0002g0031 others(1): Show |
4 | 312 | 0.0128 | -60 | c.-11 others(81): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79808125 | TCTGAGGA others(53): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 312 | 0.0032 | -60 | c.-11 others(81): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79808207 | GCTGACCA others(53): Show |
G | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0175 | 1 | 312 | 0.0032 | -60 | c.-11 others(81): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79808327 | GCTGACCA others(53): Show |
G | intron_variant | MODIFIER | HG02300.hp1 HG02683.hp2 HG02735.hp2 others(5): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0006a0001c0009t0001 | a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0167 others(5): Show |
8 | 312 | 0.0256 | -60 | c.-11 others(81): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79808371 | AAGCTGCC others(53): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 312 | 0.0032 | -60 | c.-11 others(81): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79808447 | ACTGACCA others(53): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00733.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0047 a0001c0001t0001g0048 others(2): Show |
6 | 312 | 0.0192 | -60 | c.-11 others(81): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79808507 | GCTGACCA others(53): Show |
G | intron_variant | MODIFIER | HG02572.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 a0001c0001t0001g0310 |
2 | 312 | 0.0064 | -60 | c.-11 others(81): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79808567 | ACTGACCA others(53): Show |
A | intron_variant | MODIFIER | HG02922.hp1 HG02965.hp1 HG03516.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0216 a0001c0001t0001g0224 a0001c0005t0001g0175 |
3 | 312 | 0.0096 | -60 | c.-11 others(81): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79808627 | GCTGACCA others(53): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00733.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0047 a0001c0001t0001g0048 others(2): Show |
6 | 312 | 0.0192 | -60 | c.-11 others(81): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79808671 | AAGCTGCC others(53): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02559.hp2 others(11): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 others(11): Show |
14 | 312 | 0.0449 | -60 | c.-11 others(81): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79808807 | GCTGACCA others(53): Show |
G | intron_variant | MODIFIER | HG02300.hp1 HG02683.hp2 HG02735.hp2 others(5): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0006a0001c0009t0001 | a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0167 others(5): Show |
8 | 312 | 0.0256 | -60 | c.-11 others(81): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79808927 | ACTGACCA others(53): Show |
A | intron_variant | MODIFIER | HG02738.hp2 NA18522.hp1 NA18967.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0025 a0001c0003t0001g0134 a0001c0003t0001g0155 others(3): Show |
6 | 312 | 0.0192 | -60 | c.-11 others(81): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79809105 | TCGCTGAC others(53): Show |
T | intron_variant | MODIFIER | HG01943.hp1 HG02559.hp1 HG02559.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0143 a0001c0001t0001g0228 a0001c0001t0001g0232 others(4): Show |
7 | 312 | 0.0224 | -60 | c.-11 others(81): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79809227 | GCTGACCA others(53): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00735.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0047 others(2): Show |
6 | 312 | 0.0192 | -60 | c.-11 others(81): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79809321 | GCGCTCTG others(53): Show |
G | intron_variant | MODIFIER | HG02155.hp2 HG02572.hp1 HG02723.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0309 others(2): Show |
5 | 312 | 0.0160 | -60 | c.-11 others(81): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79809445 | CCTGAGGA others(53): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 | 1 | 312 | 0.0032 | -60 | c.-11 others(81): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79809488 | GGGCCCAG others(53): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 312 | 0.0032 | -60 | c.-11 others(81): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79809527 | GCTGACCA others(53): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02723.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0292 |
3 | 312 | 0.0096 | -60 | c.-11 others(81): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79809565 | TCTGAGGA others(53): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG02486.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 |
3 | 312 | 0.0096 | -60 | c.-11 others(81): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79882753 | CCGTGGAG others(53): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG02027.hp1 NA18957.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0085 a0001c0001t0001g0108 a0001c0001t0001g0260 others(4): Show |
7 | 312 | 0.0224 | -60 | c.625 others(79): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79882838 | CCTGCGCG others(53): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0008 | 1 | 312 | 0.0032 | -60 | c.625 others(79): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNH2_chr7_150939961_150983321 | 150978891 | AACACACA others(53): Show |
A | upstream_gene_variant | MODIFIER | NA19062.hp2 NA19064.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0101 a0001c0002t0001g0170 |
2 | 358 | 0.0056 | -60 | c.-10 others(70): Show |
KCNH2 | ENSG00000055118.17 | transcript | ENST00000262186.10 | protein_coding | 571 | chr7 | TogoVar | |||||||
KCNH7_chr2_162366407_162843767 | 162752903 | AAAAAGAA others(53): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG02523.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0058 a0001c0001t0001g0091 |
3 | 100 | 0.0300 | -60 | c.307 others(79): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 20864119 | CATGTATA others(53): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG02486.hp1 HG03239.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0006 | a0001c0002t0004g0048 a0001c0002t0006g0050 a0001c0002t0006g0053 |
3 | 80 | 0.0375 | -60 | c.164 others(79): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 2/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21528736 | AAAGAAAG others(53): Show |
A | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 80 | 0.0125 | -60 | c.61+ others(79): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21528744 | AAAGAAAG others(53): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 80 | 0.0125 | -60 | c.61+ others(79): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21528748 | AAAGAAAG others(53): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0003 | 1 | 80 | 0.0125 | -60 | c.61+ others(79): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21528752 | AAAGAAAG others(53): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0077 | 1 | 80 | 0.0125 | -60 | c.61+ others(79): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNK9_chr8_139612121_139708123 | 139687575 | TATATGTA others(53): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG01109.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0182 a0001c0001t0001g0222 a0001c0001t0001g0224 others(14): Show |
18 | 322 | 0.0559 | -60 | c.283 others(79): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759906 | CTATATAT others(53): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0100 | 1 | 232 | 0.0043 | -60 | c.-67 others(79): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178760190 | ATATATAT others(53): Show |
A | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025 | 1 | 232 | 0.0043 | -60 | c.-67 others(79): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178760199 | TATATATC others(53): Show |
T | intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0132 | 1 | 232 | 0.0043 | -60 | c.-67 others(79): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNN2_chr5_114357070_114501496 | 114379596 | TTATATAT others(53): Show |
T | intron_variant | MODIFIER | HG00099.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0208 | 1 | 250 | 0.0040 | -60 | c.121 others(81): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNQ1_chr11_2440008_2854105 | 2444616 | GGCGGGGT others(53): Show |
G | upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0193 | 1 | 208 | 0.0048 | -60 | c.-48 others(69): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 391 | chr11 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63462250 | AGCACCTA others(53): Show |
A | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0179 | 1 | 330 | 0.0030 | -60 | c.296 others(77): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63462369 | CGGCACCT others(53): Show |
C | intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0001 | a0002c0001t0058 | a0002c0001t0058g0204 | 1 | 330 | 0.0030 | -60 | c.296 others(77): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | |||||||
KCNQ5_chr6_72617064_73203853 | 72941666 | CTCTTTCT others(53): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00639.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0002g0005 a0001c0001t0003g0011 a0001c0001t0005g0014 others(18): Show |
21 | 80 | 0.2625 | -60 | c.399 others(79): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNV2_chr9_2712510_2735037 | 2719165 | TTATCAGC others(53): Show |
T | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0059 | 1 | 442 | 0.0023 | -60 | c.135 others(76): Show |
KCNV2 | ENSG00000168263.9 | transcript | ENST00000382082.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNV2_chr9_2712510_2735037 | 2722464 | TTTATAAA others(53): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02257.hp2 others(3): Show |
a0002 | a0002c0006a0002c0011a0002c0019 | a0002c0006t0001a0002c0011t0001a0002c0019t0001 | a0002c0006t0001g0154 a0002c0011t0001g0023 a0002c0011t0001g0156 others(1): Show |
6 | 442 | 0.0136 | -60 | c.135 others(79): Show |
KCNV2 | ENSG00000168263.9 | transcript | ENST00000382082.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCTD16_chr5_144165873_144490686 | 144299044 | CTATATAT others(53): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01167.hp1 HG01934.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0028a0001c0001t0055others(1): Show | a0001c0001t0021g0004 a0001c0001t0028g0025 a0001c0001t0055g0001 others(1): Show |
4 | 156 | 0.0256 | -60 | c.832 others(79): Show |
KCTD16 | ENSG00000183775.11 | transcript | ENST00000512467.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KDM7A_chr7_140079746_140181983 | 140100660 | TTATATAT others(53): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00642.hp1 HG01074.hp1 others(40): Show |
a0002a0006 | a0002c0002a0002c0008a0006c0007 | a0002c0002t0004a0002c0002t0005a0002c0002t0006others(3): Show | a0002c0002t0004g0015 a0002c0002t0004g0284 a0002c0002t0004g0285 others(36): Show |
43 | 344 | 0.1250 | -60 | c.163 others(77): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 12/19 | chr7 | TogoVar | |||||||
KIAA1549L_chr11_33371108_33679102 | 33638404 | TTTATTCT others(53): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00609.hp1 others(164): Show |
a0001a0002a0003others(15): Show | a0001c0002a0001c0003a0001c0004others(72): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(126): Show | a0001c0002t0001g0026 a0001c0002t0001g0033 a0001c0002t0001g0036 others(164): Show |
167 | 226 | 0.7389 | -60 | c.541 others(79): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIF13B_chr8_29062278_29268070 | 29073060 | CAGGGGGA others(53): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01891.hp1 |
a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0286 a0001c0005t0010g0287 |
2 | 288 | 0.0069 | -60 | c.452 others(77): Show |
KIF13B | ENSG00000197892.13 | transcript | ENST00000524189.6 | protein_coding | 38/39 | chr8 | TogoVar |