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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AATATATA others(15): Show |
upstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0066 | 1 | 432 | 0.0023 | 22 | c.-13 others(33): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170390538 | A | ATATATAT others(15): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0052 | 2 | 432 | 0.0046 | 22 | c.-13 others(33): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1172 | chr5 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178614297 | G | GTATATGT others(15): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0160 | 1 | 232 | 0.0043 | 22 | c.-68 others(41): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178614333 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0148 | 1 | 232 | 0.0043 | 22 | c.-68 others(41): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178691107 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01358.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0105 a0001c0001t0002g0062 a0001c0001t0002g0087 others(9): Show |
12 | 232 | 0.0517 | 22 | c.-67 others(43): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178754177 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02630.hp1 NA18906.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 a0001c0001t0002g0220 a0001c0001t0002g0222 |
3 | 232 | 0.0129 | 22 | c.-67 others(41): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178757713 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0199 | 1 | 232 | 0.0043 | 22 | c.-67 others(41): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178757840 | G | GATATATA others(15): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0219 | 1 | 232 | 0.0043 | 22 | c.-67 others(41): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178757906 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 232 | 0.0043 | 22 | c.-67 others(41): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758037 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0193 | 1 | 232 | 0.0043 | 22 | c.-67 others(41): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758132 | A | AAGAGGAT others(15): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01358.hp1 HG01515.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0130 others(7): Show |
10 | 232 | 0.0431 | 22 | c.-67 others(41): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758353 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0125 | 1 | 232 | 0.0043 | 22 | c.-67 others(41): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758391 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0083 | 1 | 232 | 0.0043 | 22 | c.-67 others(41): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758677 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG03486.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 a0001c0001t0002g0228 |
2 | 232 | 0.0086 | 22 | c.-67 others(41): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758972 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0079 | 1 | 232 | 0.0043 | 22 | c.-67 others(41): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758978 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 | 1 | 232 | 0.0043 | 22 | c.-67 others(41): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759052 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0053 | 1 | 232 | 0.0043 | 22 | c.-67 others(41): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759058 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01346.hp1 HG01358.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0001 | a0001c0001t0003g0126 a0001c0001t0004g0007 a0001c0001t0004g0078 others(8): Show |
11 | 232 | 0.0474 | 22 | c.-67 others(41): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759541 | C | CCAAGAGG others(15): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0224 | 1 | 232 | 0.0043 | 22 | c.-67 others(41): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759881 | T | TATCCAAG others(15): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0227 | 1 | 232 | 0.0043 | 22 | c.-67 others(41): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB4_chr12_70361290_70439292 | 70366238 | G | GCGGGGCG others(15): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00642.hp1 HG01358.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0011 a0001c0001t0001g0123 a0001c0001t0001g0124 others(32): Show |
36 | 378 | 0.0952 | 22 | c.-49 others(31): Show |
KCNMB4 | ENSG00000135643.5 | transcript | ENST00000258111.5 | protein_coding | 51 | chr12 | TogoVar | |||||||
KCNN2_chr5_114357070_114501496 | 114373640 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02559.hp2 NA18906.hp2 others(2): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0004 | a0001c0001t0001a0002c0002t0001a0005c0004t0001 | a0001c0001t0001g0023 a0001c0001t0001g0247 a0002c0002t0001g0123 others(2): Show |
5 | 250 | 0.0200 | 22 | c.121 others(41): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNN2_chr5_114357070_114501496 | 114375952 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01074.hp2 others(15): Show |
a0002a0005a0008 | a0002c0002a0002c0014a0002c0017others(2): Show | a0002c0002t0001a0002c0014t0001a0002c0017t0001others(2): Show | a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0111 others(15): Show |
18 | 250 | 0.0720 | 22 | c.121 others(43): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNN2_chr5_114357070_114501496 | 114375974 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0146 | 1 | 250 | 0.0040 | 22 | c.121 others(43): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNN2_chr5_114357070_114501496 | 114449908 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 250 | 0.0040 | 22 | c.163 others(43): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154766414 | C | CTATATAT others(15): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0011 | a0011c0024 | a0011c0024t0068 | a0011c0024t0068g0010 | 1 | 238 | 0.0042 | 22 | c.144 others(41): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154766416 | T | TTAAATAT others(15): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0003 | a0003c0003 | a0003c0003t0031 | a0003c0003t0031g0003 | 1 | 238 | 0.0042 | 22 | c.144 others(41): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154766416 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02976.hp2 HG03579.hp1 others(1): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0012others(1): Show | a0001c0001t0070a0002c0002t0001a0006c0012t0104others(1): Show | a0001c0001t0070g0093 a0002c0002t0001g0125 a0006c0012t0104g0023 others(1): Show |
4 | 238 | 0.0168 | 22 | c.144 others(41): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
KCNQ1_chr11_2440008_2854105 | 2733814 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 1 | 208 | 0.0048 | 22 | c.151 others(43): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNQ1_chr11_2440008_2854105 | 2733814 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0193 | 1 | 208 | 0.0048 | 22 | c.151 others(43): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNQ1_chr11_2440008_2854105 | 2799375 | A | AGTGTGTG others(15): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0202 | 1 | 208 | 0.0048 | 22 | c.179 others(43): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNQ3_chr8_132115861_132486095 | 132154193 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0081 | 1 | 176 | 0.0057 | 22 | c.126 others(41): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 9/14 | chr8 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132273162 | G | GCATATTT others(15): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0003 | a0003c0004 | a0003c0004t0013 | a0003c0004t0013g0072 | 1 | 176 | 0.0057 | 22 | c.387 others(41): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132303565 | G | GATATATA others(15): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0090 | a0001c0001t0090g0145 | 1 | 176 | 0.0057 | 22 | c.387 others(43): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132303677 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0058 | a0001c0001t0018g0035 a0001c0001t0058g0065 |
2 | 176 | 0.0114 | 22 | c.387 others(43): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132448502 | G | GAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0036 | 1 | 176 | 0.0057 | 22 | c.386 others(41): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ5_chr6_72617064_73203853 | 72852640 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0063 | 1 | 80 | 0.0125 | 22 | c.399 others(43): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 72854758 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 80 | 0.0125 | 22 | c.399 others(43): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 73097142 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02055.hp2 HG02083.hp1 |
a0001 | a0001c0001a0001c0004a0001c0010 | a0001c0001t0035a0001c0004t0002a0001c0010t0039 | a0001c0001t0035g0033 a0001c0004t0002g0078 a0001c0010t0039g0027 |
3 | 80 | 0.0375 | 22 | c.919 others(39): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNRG_chr13_50010444_50025922 | 50014360 | T | TATATATA others(15): Show |
upstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 448 | 0.0022 | 22 | c.-11 others(33): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 1083 | chr13 | TogoVar | |||||||
KCNRG_chr13_50010444_50025922 | 50014360 | T | TATATATA others(15): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG02145.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 3 | 448 | 0.0067 | 22 | c.-11 others(33): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 1083 | chr13 | TogoVar | |||||||
KCNS3_chr2_17873667_17937958 | 17884260 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | NA18946.hp1 NA18946.hp2 NA18957.hp2 others(1): Show |
a0001 | a0001c0002a0001c0013 | a0001c0002t0001a0001c0013t0001 | a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 others(1): Show |
4 | 384 | 0.0104 | 22 | c.-25 others(41): Show |
KCNS3 | ENSG00000170745.12 | transcript | ENST00000304101.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNS3_chr2_17873667_17937958 | 17884268 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0117 | 1 | 384 | 0.0026 | 22 | c.-25 others(41): Show |
KCNS3 | ENSG00000170745.12 | transcript | ENST00000304101.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNS3_chr2_17873667_17937958 | 17888629 | G | GTATATCT others(15): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0088 | 1 | 384 | 0.0026 | 22 | c.-25 others(41): Show |
KCNS3 | ENSG00000170745.12 | transcript | ENST00000304101.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNS3_chr2_17873667_17937958 | 17921913 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 384 | 0.0026 | 22 | c.-60 others(39): Show |
KCNS3 | ENSG00000170745.12 | transcript | ENST00000304101.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135731991 | T | TAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 272 | 0.0037 | 22 | c.254 others(41): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135731991 | T | TATAGAGA others(15): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02155.hp1 NA19012.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0043a0001c0005t0001 | a0001c0001t0002g0196 a0001c0001t0043g0197 a0001c0005t0001g0207 |
3 | 272 | 0.0110 | 22 | c.254 others(41): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135731991 | T | TATATAGA others(15): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 272 | 0.0037 | 22 | c.254 others(41): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135731991 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA18966.hp1 NA19000.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0206 a0001c0004t0001g0187 |
2 | 272 | 0.0074 | 22 | c.254 others(41): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135731991 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 272 | 0.0037 | 22 | c.254 others(41): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |