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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KBTBD4_chr11_47567197_47583970 | 47579984 | GACACACA others(19): Show |
G | upstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 414 | 0.0024 | -26 | c.-10 others(37): Show |
KBTBD4 | ENSG00000123444.14 | transcript | ENST00000430070.7 | protein_coding | 1015 | chr11 | TogoVar | ||||||
KCNB2_chr8_72532225_72943349 | 72561709 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 164 | 0.0061 | -26 | c.-93 others(43): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KCNE2_chr21_34359006_34376381 | 34363373 | TTCTTCTT others(19): Show |
T | upstream_gene_variant | MODIFIER | HG02922.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0004 | a0001c0001t0004g0077a0001c0004t0004g0076 | 2 | 434 | 0.0046 | -26 | c.-79 others(35): Show |
KCNE2 | ENSG00000159197.4 | transcript | ENST00000290310.4 | protein_coding | 632 | chr21 | TogoVar | ||||||
KCNE2_chr21_34359006_34376381 | 34368221 | ACACACAC others(19): Show |
A | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 434 | 0.0023 | -26 | c.-12 others(43): Show |
KCNE2 | ENSG00000159197.4 | transcript | ENST00000290310.4 | protein_coding | 1/1 | chr21 | TogoVar | ||||||
KCNH2_chr7_150939961_150983321 | 150978905 | CACACACA others(19): Show |
C | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG01515.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0100a0001c0001t0001g0162others(1): Show | 5 | 358 | 0.0140 | -26 | c.-10 others(36): Show |
KCNH2 | ENSG00000055118.17 | transcript | ENST00000262186.10 | protein_coding | 585 | chr7 | TogoVar | ||||||
KCNH7_chr2_162366407_162843767 | 162748917 | TTCCCTTT others(19): Show |
T | intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0076 | 1 | 100 | 0.0100 | -26 | c.307 others(45): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | ||||||
KCNH8_chr3_19143510_19540642 | 19260487 | GATATATA others(19): Show |
G | intron_variant | MODIFIER | HG02071.hp2 HG02074.hp1 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0065a0001c0001t0002g0115a0001c0001t0002g0117 | 3 | 134 | 0.0224 | -26 | c.310 others(43): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNH8_chr3_19143510_19540642 | 19308650 | GTCTCTCT others(19): Show |
G | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 134 | 0.0075 | -26 | c.442 others(45): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNH8_chr3_19143510_19540642 | 19308695 | TCTCTCTC others(19): Show |
T | intron_variant | MODIFIER | HG02922.hp2 HG03130.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0121a0001c0001t0001g0134a0001c0003t0001g0108 | 3 | 134 | 0.0224 | -26 | c.442 others(45): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNIP1_chr5_170499020_170741632 | 170597784 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG01074.hp2 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012others(67): Show | 70 | 218 | 0.3211 | -26 | c.61+ others(43): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
KCNIP4_chr4_20723606_21953772 | 20916985 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02622.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0004 | a0001c0001t0002g0015a0001c0002t0004g0071 | 2 | 80 | 0.0250 | -26 | c.62- others(43): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21370800 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02698.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0042a0001c0001t0001g0075a0001c0001t0002g0074others(1): Show | 4 | 80 | 0.0500 | -26 | c.62- others(45): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21519785 | ATGTGTGT others(19): Show |
A | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0048 | 1 | 80 | 0.0125 | -26 | c.61+ others(45): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNJ3_chr2_154693695_154863354 | 154835490 | AATATGAA others(19): Show |
A | intron_variant | MODIFIER | HG02735.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0053a0001c0001t0024g0106 | 2 | 284 | 0.0070 | -26 | c.920 others(45): Show |
KCNJ3 | ENSG00000162989.5 | transcript | ENST00000295101.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KCNJ5_chr11_128886356_128926163 | 128891429 | CACACACA others(19): Show |
C | 5_prime_UTR_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0252 | a0001c0001t0252g0140 | 1 | 460 | 0.0022 | -26 | c.-30 others(35): Show |
KCNJ5 | ENSG00000120457.12 | transcript | ENST00000529694.6 | protein_coding | 1/3 | 19818 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
KCNJ6_chr21_37602373_37921457 | 37617032 | CTTTCTTT others(19): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01175.hp2 HG01978.hp2 HG02109.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0083a0001c0002t0143a0001c0002t0158others(1): Show | a0001c0001t0083g0010a0001c0002t0143g0147a0001c0002t0158g0151others(1): Show | 4 | 198 | 0.0202 | -26 | c.*81 others(37): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 8101 | chr21 | TogoVar | |||||
KCNJ6_chr21_37602373_37921457 | 37655214 | TGTGTGTG others(19): Show |
T | intron_variant | MODIFIER | HG01358.hp1 HG04204.hp2 NA19062.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0189a0001c0003t0120a0001c0003t0134 | a0001c0002t0189g0197a0001c0003t0120g0027a0001c0003t0134g0028 | 3 | 198 | 0.0152 | -26 | c.947 others(45): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37655216 | TGTGTGTG others(19): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG02132.hp2 HG02717.hp2 others(1): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0017a0001c0002t0145a0001c0002t0153others(1): Show | a0001c0002t0017g0022a0001c0002t0145g0094a0001c0002t0153g0096others(1): Show | 4 | 198 | 0.0202 | -26 | c.947 others(45): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37655218 | TGTGTGTG others(19): Show |
T | intron_variant | MODIFIER | NA18955.hp1 NA18961.hp2 NA19011.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0179a0001c0001t0180a0001c0003t0182 | a0001c0001t0179g0079a0001c0001t0180g0183a0001c0003t0182g0033 | 3 | 198 | 0.0152 | -26 | c.947 others(45): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | ||||||
KCNJ9_chr1_160076538_160095563 | 160086499 | CTTTTGAA others(19): Show |
C | intron_variant | MODIFIER | NA18983.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0045 | 1 | 430 | 0.0023 | -26 | c.851 others(41): Show |
KCNJ9 | ENSG00000162728.5 | transcript | ENST00000368088.4 | protein_coding | 2/2 | chr1 | TogoVar | ||||||
KCNK12_chr2_47504290_47575985 | 47507060 | CCTCCCTC others(19): Show |
C | downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0242 | 1 | 388 | 0.0026 | -26 | c.*13 others(39): Show |
KCNK12 | ENSG00000184261.5 | transcript | ENST00000327876.5 | protein_coding | 2229 | chr2 | TogoVar | ||||||
KCNK17_chr6_39294001_39319419 | 39311072 | GCACACAC others(19): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01167.hp2 HG01255.hp2 others(12): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0001a0001c0003t0003others(1): Show | a0001c0002t0001g0047a0001c0002t0001g0048a0001c0002t0001g0051others(6): Show | 15 | 454 | 0.0330 | -26 | c.238 others(39): Show |
KCNK17 | ENSG00000124780.14 | transcript | ENST00000373231.9 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215093742 | AAAAATAT others(19): Show |
A | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0077 | 1 | 260 | 0.0039 | -26 | c.357 others(43): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCNK9_chr8_139612121_139708123 | 139700494 | ACACACAC others(19): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0296 | 3 | 322 | 0.0093 | -26 | c.283 others(43): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
KCNK9_chr8_139612121_139708123 | 139700520 | GCACACAC others(19): Show |
G | intron_variant | MODIFIER | HG02809.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0294 | 2 | 322 | 0.0062 | -26 | c.283 others(43): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
KCNMA1_chr10_76879882_77642808 | 77068852 | AACACACA others(19): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0070 | 1 | 106 | 0.0094 | -26 | c.174 others(45): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 14/27 | chr10 | TogoVar | ||||||
KCNMA1_chr10_76879882_77642808 | 77127071 | AACACACA others(19): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0080 | 1 | 106 | 0.0094 | -26 | c.809 others(43): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 5/27 | chr10 | TogoVar | ||||||
KCNMA1_chr10_76879882_77642808 | 77543006 | ACTCTCTC others(19): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00597.hp2 others(72): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0011a0001c0001t0001g0023a0001c0001t0001g0027others(72): Show | 75 | 106 | 0.7076 | -26 | c.378 others(45): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | ||||||
KCNMB1_chr5_170369671_170394367 | 170375559 | GCCCCTCA others(19): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01261.hp1 HG02280.hp1 HG02615.hp1 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0022a0002c0002t0025a0002c0002t0027others(4): Show | a0002c0002t0022g0023a0002c0002t0025g0026a0002c0002t0027g0030others(4): Show | 14 | 432 | 0.0324 | -26 | c.*31 others(37): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 4/4 | 3119 | chr5 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178614247 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02145.hp2 HG02615.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0040a0001c0001t0002g0164a0001c0001t0002g0201others(8): Show | 11 | 232 | 0.0474 | -26 | c.-68 others(45): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178757385 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0154 | 1 | 232 | 0.0043 | -26 | c.-67 others(45): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178757597 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0122 | 1 | 232 | 0.0043 | -26 | c.-67 others(45): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178757625 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG02723.hp1 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076a0001c0001t0002g0113 | 2 | 232 | 0.0086 | -26 | c.-67 others(45): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178757655 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 232 | 0.0043 | -26 | c.-67 others(45): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178759756 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01070.hp1 HG01192.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0002g0010a0001c0001t0002g0012a0001c0001t0002g0035others(10): Show | 13 | 232 | 0.0560 | -26 | c.-67 others(45): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178759963 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0161a0001c0001t0003g0021a0001c0001t0003g0086others(1): Show | 4 | 232 | 0.0172 | -26 | c.-67 others(45): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178828925 | CTGTGTGT others(19): Show |
C | intron_variant | MODIFIER | HG03540.hp1 NA20752.hp2 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0085a0001c0002t0006g0199 | 2 | 232 | 0.0086 | -26 | c.423 others(41): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNN1_chr19_17962107_18005085 | 17970289 | ATTTTTTT others(19): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0019 | a0001c0001t0002g0148a0001c0001t0019g0149 | 2 | 378 | 0.0053 | -26 | c.-82 others(43): Show |
KCNN1 | ENSG00000105642.16 | transcript | ENST00000684775.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KCNN1_chr19_17962107_18005085 | 17995095 | CACTTCCT others(19): Show |
C | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0352 | 1 | 378 | 0.0027 | -26 | c.137 others(45): Show |
KCNN1 | ENSG00000105642.16 | transcript | ENST00000684775.1 | protein_coding | 9/9 | chr19 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154702700 | GATATATA others(19): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0104 | 1 | 238 | 0.0042 | -26 | c.*52 others(37): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 8/8 | 5250 | chr1 | TogoVar | |||||
KCNQ3_chr8_132115861_132486095 | 132151297 | GAAATAGA others(19): Show |
G | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0129 | 1 | 176 | 0.0057 | -26 | c.126 others(45): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 9/14 | chr8 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 72746064 | CAAAAAAA others(19): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0012 | a0001c0012t0014 | a0001c0012t0014g0009 | 1 | 80 | 0.0125 | -26 | c.398 others(47): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCNQ5_chr6_72617064_73203853 | 73124958 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02258.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0004a0001c0001t0022a0001c0001t0036others(3): Show | a0001c0001t0004g0034a0001c0001t0022g0075a0001c0001t0036g0070others(3): Show | 6 | 80 | 0.0750 | -26 | c.124 others(43): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCNQ5_chr6_72617064_73203853 | 73124960 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG02083.hp2 HG02647.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0003g0015a0001c0001t0005g0074a0001c0001t0008g0032others(4): Show | 7 | 80 | 0.0875 | -26 | c.124 others(43): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCNQ5_chr6_72617064_73203853 | 73197580 | TACACACA others(19): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0070 | 1 | 80 | 0.0125 | -26 | c.*22 others(37): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 14/14 | 2203 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
KCNRG_chr13_50010444_50025922 | 50015090 | AAAAAATA others(19): Show |
A | upstream_gene_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 448 | 0.0022 | -26 | c.-40 others(35): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 353 | chr13 | TogoVar | ||||||
KCNRG_chr13_50010444_50025922 | 50015092 | AAAATATA others(19): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01123.hp1 HG01175.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0040a0001c0001t0001g0041 | 19 | 448 | 0.0424 | -26 | c.-40 others(35): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 351 | chr13 | TogoVar | ||||||
KCNS3_chr2_17873667_17937958 | 17888629 | GTATATAT others(19): Show |
G | intron_variant | MODIFIER | HG00280.hp1 NA18973.hp1 NA18986.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0002a0001c0001t0009a0002c0007t0001 | a0001c0001t0002g0044a0001c0001t0002g0090a0001c0001t0009g0045others(1): Show | 4 | 384 | 0.0104 | -26 | c.-25 others(45): Show |
KCNS3 | ENSG00000170745.12 | transcript | ENST00000304101.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KCNS3_chr2_17873667_17937958 | 17921911 | GTGTGTAT others(19): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(132): Show |
a0001a0005a0010 | a0001c0002a0001c0012a0001c0013others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0012t0001others(3): Show | a0001c0002t0001g0002a0001c0002t0001g0004a0001c0002t0001g0007others(125): Show | 135 | 384 | 0.3516 | -26 | c.-60 others(43): Show |
KCNS3 | ENSG00000170745.12 | transcript | ENST00000304101.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KCNT1_chr9_135697185_135800502 | 135768246 | GGGGGGGG others(19): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01361.hp1 HG01433.hp2 others(7): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0018 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(4): Show | a0001c0001t0001g0141a0001c0001t0001g0167a0001c0001t0001g0169others(7): Show | 10 | 272 | 0.0368 | -26 | c.133 others(43): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 13/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |