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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNK9_chr8_139612121_139708123 | 139704967 | C | CACACACA others(23): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 322 | 0.0031 | 30 | c.-19 others(41): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1845 | chr8 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77007653 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG01346.hp1 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0017 | a0001c0002t0002g0052 a0001c0002t0017g0045 |
2 | 106 | 0.0189 | 30 | c.209 others(49): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 18/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77007653 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG03486.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0008t0001 | a0001c0001t0002g0081 a0001c0008t0001g0004 |
2 | 106 | 0.0189 | 30 | c.209 others(49): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 18/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77387556 | T | TTTTCTTT others(23): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01071.hp2 HG01243.hp1 others(16): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0053 others(16): Show |
19 | 106 | 0.1793 | 30 | c.540 others(49): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 2/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77572569 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0058 a0001c0001t0003g0026 |
2 | 106 | 0.0189 | 30 | c.378 others(49): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77572603 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0023 a0001c0001t0006g0061 |
2 | 106 | 0.0189 | 30 | c.378 others(49): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00621.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0039a0003c0003t0003a0003c0003t0011 | a0001c0001t0039g0115 a0003c0003t0003g0007 a0003c0003t0011g0042 |
4 | 432 | 0.0093 | 30 | c.-12 others(41): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0009 | 1 | 432 | 0.0023 | 30 | c.-12 others(41): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0040 | 1 | 432 | 0.0023 | 30 | c.-12 others(41): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0082 | 1 | 432 | 0.0023 | 30 | c.-12 others(41): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAAATA others(23): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 | a0003 | a0003c0003 | a0003c0003t0049 | a0003c0003t0049g0060 | 1 | 432 | 0.0023 | 30 | c.-12 others(41): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAATATA others(23): Show |
upstream_gene_variant | MODIFIER | NA18962.hp2 NA19054.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0029 | a0001c0001t0006g0005 a0001c0001t0029g0061 |
2 | 432 | 0.0046 | 30 | c.-12 others(41): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG01928.hp1 HG02004.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 | 2 | 432 | 0.0046 | 30 | c.-12 others(41): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178614283 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0018 | 1 | 232 | 0.0043 | 30 | c.-68 others(49): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178757309 | C | CATTCAAG others(23): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02647.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0211 a0001c0001t0003g0215 a0001c0001t0003g0216 others(1): Show |
4 | 232 | 0.0172 | 30 | c.-67 others(49): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178757364 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02129.hp2 HG03130.hp2 HG03209.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0002t0001 | a0001c0001t0003g0021 a0001c0001t0003g0086 a0001c0001t0005g0128 others(5): Show |
8 | 232 | 0.0345 | 30 | c.-67 others(49): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178757503 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01070.hp2 HG01515.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0001 | a0001c0001t0002g0080 a0001c0001t0002g0168 a0001c0001t0002g0178 others(7): Show |
10 | 232 | 0.0431 | 30 | c.-67 others(49): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178757681 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01258.hp2 HG02572.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0054 others(1): Show |
4 | 232 | 0.0172 | 30 | c.-67 others(49): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178757749 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0112 | 1 | 232 | 0.0043 | 30 | c.-67 others(49): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758593 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0217 | 1 | 232 | 0.0043 | 30 | c.-67 others(49): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759436 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045 | 1 | 232 | 0.0043 | 30 | c.-67 others(49): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759436 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0039 | 1 | 232 | 0.0043 | 30 | c.-67 others(49): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178760349 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02109.hp1 HG03130.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0003g0088 a0001c0001t0003g0163 a0001c0001t0004g0160 others(3): Show |
6 | 232 | 0.0259 | 30 | c.-67 others(49): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178778458 | A | ACACACGC others(23): Show |
intron_variant | MODIFIER | HG01069.hp2 HG03710.hp1 HG03834.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0122 a0001c0002t0001g0195 a0001c0002t0001g0196 |
3 | 232 | 0.0129 | 30 | c.-67 others(49): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178778460 | A | ACACGCAC others(23): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01943.hp1 HG02300.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0002 | a0001c0001t0003g0058 a0001c0002t0001g0057 a0001c0002t0002g0053 |
3 | 232 | 0.0129 | 30 | c.-67 others(49): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178778462 | A | ACGCACGC others(23): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0182 | 1 | 232 | 0.0043 | 30 | c.-67 others(49): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNN2_chr5_114357070_114501496 | 114373640 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 250 | 0.0040 | 30 | c.121 others(49): 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(23): Show |
intron_variant | MODIFIER | HG02080.hp2 NA18906.hp1 |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0001a0002c0002t0001 | a0001c0006t0001g0093 a0002c0002t0001g0165 |
2 | 250 | 0.0080 | 30 | c.121 others(51): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNN2_chr5_114357070_114501496 | 114379605 | T | TGTAGAAT others(23): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 | 1 | 250 | 0.0040 | 30 | c.121 others(51): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | chr5 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154766416 | T | TCATATAT others(23): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0198 | 1 | 238 | 0.0042 | 30 | c.144 others(49): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154766416 | T | TTAAATAT others(23): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02109.hp1 HG03654.hp1 others(4): Show |
a0001a0003a0005 | a0001c0001a0001c0008a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0008t0005others(4): Show | a0001c0001t0002g0099 a0001c0001t0004g0110 a0001c0008t0005g0064 others(4): Show |
7 | 238 | 0.0294 | 30 | c.144 others(49): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154766416 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02055.hp1 HG02165.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0010others(3): Show | a0001c0001t0064a0002c0002t0005a0002c0010t0120others(3): Show | a0001c0001t0064g0104 a0002c0002t0005g0143 a0002c0010t0120g0228 others(3): Show |
6 | 238 | 0.0252 | 30 | c.144 others(49): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154766416 | T | TTTTATAT others(23): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01517.hp1 others(1): Show |
a0004a0005a0008 | a0004c0014a0005c0031a0008c0016 | a0004c0014t0006a0005c0031t0002a0008c0016t0007 | a0004c0014t0006g0039 a0005c0031t0002g0001 a0008c0016t0007g0208 |
4 | 238 | 0.0168 | 30 | c.144 others(49): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154869723 | G | GGCTGCTG others(23): Show |
conservative_inframe_insertion | MODERATE | HG03490.hp1 HG03492.hp1 |
a0014 | a0014c0023 | a0014c0023t0004a0014c0023t0021 | a0014c0023t0004g0008 a0014c0023t0021g0007 |
2 | 238 | 0.0084 | 30 | c.212 others(37): Show |
p.Gln others(11): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 1/8 | 558/13034 | 241/2196 | 81/731 | chr1 | TogoVar | |||
KCNQ1_chr11_2440008_2854105 | 2733814 | A | ACACACAC others(23): Show |
intron_variant | MODIFIER | NA18952.hp1 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 a0001c0001t0002g0197 |
2 | 208 | 0.0096 | 30 | c.151 others(51): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63442713 | C | CCACCACC others(23): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0233 | 1 | 330 | 0.0030 | 30 | c.691 others(45): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63443478 | T | TCACCACC others(23): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0313 | 1 | 330 | 0.0030 | 30 | c.691 others(45): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63461773 | T | TACCCCAG others(23): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02647.hp1 HG02683.hp2 others(15): Show |
a0001a0002 | a0001c0002a0001c0007a0001c0014others(2): Show | a0001c0002t0005a0001c0002t0036a0001c0007t0007others(5): Show | a0001c0002t0005g0022 a0001c0002t0005g0023 a0001c0002t0036g0001 others(14): Show |
18 | 330 | 0.0546 | 30 | c.296 others(49): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63461979 | A | AGCACCTA others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(127): Show |
a0001a0002a0004others(6): Show | a0001c0002a0001c0003a0001c0004others(17): Show | a0001c0002t0005a0001c0002t0012a0001c0002t0022others(65): Show | a0001c0002t0005g0046 a0001c0002t0012g0029 a0001c0002t0012g0030 others(127): Show |
130 | 330 | 0.3939 | 30 | c.296 others(49): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63462340 | T | TGCATCTA others(23): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG01081.hp2 others(27): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0004a0001c0012others(5): Show | a0001c0002t0005a0001c0002t0012a0001c0002t0022others(23): Show | a0001c0002t0005g0046 a0001c0002t0012g0029 a0001c0002t0012g0030 others(27): Show |
30 | 330 | 0.0909 | 30 | c.296 others(47): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132293999 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0088 | 1 | 176 | 0.0057 | 30 | c.387 others(51): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132303565 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01255.hp1 HG01255.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(12): Show | a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0007g0171 others(14): Show |
17 | 176 | 0.0966 | 30 | c.387 others(51): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132403016 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02622.hp1 NA18522.hp2 NA18977.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0023a0001c0001t0026a0001c0001t0105others(1): Show | a0001c0001t0023g0078 a0001c0001t0026g0098 a0001c0001t0105g0163 others(1): Show |
4 | 176 | 0.0227 | 30 | c.386 others(49): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ5_chr6_72617064_73203853 | 72852640 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG02647.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0001g0013 a0001c0001t0004g0034 a0001c0001t0008g0032 others(4): Show |
7 | 80 | 0.0875 | 30 | c.399 others(51): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 73193464 | A | AAAAATAA others(23): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0062 | 1 | 80 | 0.0125 | 30 | c.183 others(47): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135731991 | T | TATATAGA others(23): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0189 | 1 | 272 | 0.0037 | 30 | c.254 others(49): 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(23): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0034 | 1 | 272 | 0.0037 | 30 | c.254 others(49): 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(23): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0031 a0001c0001t0002g0142 |
2 | 272 | 0.0074 | 30 | c.254 others(49): 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(23): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG02922.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0022a0001c0002t0001a0001c0002t0005 | a0001c0001t0022g0193 a0001c0002t0001g0124 a0001c0002t0005g0079 |
3 | 272 | 0.0110 | 30 | c.254 others(49): 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(23): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0181 | 1 | 272 | 0.0037 | 30 | c.254 others(49): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |