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 | 14883341 | A | AGAGAGAG others(33): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0082 | 1 | 132 | 0.0076 | 40 | c.227 others(59): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14883341 | A | AGAGGGAG others(33): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0031 | 1 | 132 | 0.0076 | 40 | c.227 others(59): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14883343 | A | AGAGAGAG others(33): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 | 1 | 140 | 0.0071 | 40 | c.227 others(59): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | chr1 | TogoVar | |||||||
KAZN_chr1_14593685_15123043 | 15101164 | T | TTCTCTCT others(33): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01192.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0053 a0002c0002t0001g0055 |
2 | 37 | 0.0541 | 40 | c.154 others(57): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNB2_chr8_72532225_72943349 | 72920463 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 163 | 0.0061 | 40 | c.580 others(59): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KCNC3_chr19_50306937_50334377 | 50331494 | T | TCTTCTTC others(33): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp2 others(94): Show |
a0001a0006a0008others(2): Show | a0001c0001a0001c0002a0006c0029others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0012 others(50): Show |
97 | 336 | 0.2887 | 40 | c.-24 others(51): Show |
KCNC3 | ENSG00000131398.15 | transcript | ENST00000477616.2 | protein_coding | 2118 | chr19 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210806830 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0006 | 1 | 112 | 0.0089 | 40 | c.146 others(59): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210806836 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0062 | 1 | 25 | 0.0400 | 40 | c.146 others(59): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210832907 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027 | 1 | 82 | 0.0122 | 40 | c.146 others(61): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 211045041 | G | GATATATA others(33): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02897.hp1 HG03239.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0003g0102 a0001c0001t0004g0032 a0001c0001t0005g0042 others(2): Show |
5 | 68 | 0.0735 | 40 | c.559 others(59): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 5/10 | chr1 | TogoVar | |||||||
KCNH5_chr14_62694464_63050458 | 63024213 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG02080.hp2 NA18977.hp2 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0107 a0002c0002t0004g0108 |
2 | 208 | 0.0096 | 40 | c.74- others(55): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
KCNH5_chr14_62694464_63050458 | 63047162 | G | GCCTCCCC others(33): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 HG02129.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0016 | a0001c0001t0001g0051 a0001c0001t0002g0176 a0001c0001t0016g0049 |
3 | 96 | 0.0313 | 40 | c.-19 others(51): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 1705 | chr14 | TogoVar | |||||||
KCNIP1_chr5_170499020_170741632 | 170599624 | G | GATGGACC others(33): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0006 | 1 | 114 | 0.0088 | 40 | c.61+ others(57): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21226354 | A | AGAAGGAA others(33): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 31 | 0.0323 | 40 | c.62- others(59): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21582006 | A | AAGAATAG others(33): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0034 | 1 | 75 | 0.0133 | 40 | c.61+ others(59): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNJ10_chr1_160032467_160075160 | 160049671 | T | TTATTTAT others(33): Show |
intron_variant | MODIFIER | NA18957.hp1 NA18999.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0004 | a0001c0001t0004g0201 a0002c0002t0004g0204 |
2 | 399 | 0.0050 | 40 | c.1-7 others(53): Show |
KCNJ10 | ENSG00000177807.10 | transcript | ENST00000644903.1 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
KCNJ10_chr1_160032467_160075160 | 160049671 | T | TTATTTAT others(33): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0166 | 1 | 398 | 0.0025 | 40 | c.1-7 others(53): Show |
KCNJ10 | ENSG00000177807.10 | transcript | ENST00000644903.1 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
KCNJ10_chr1_160032467_160075160 | 160049677 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG01934.hp1 NA18949.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019 | a0001c0001t0003g0011 a0001c0001t0019g0012 |
2 | 383 | 0.0052 | 40 | c.1-7 others(53): Show |
KCNJ10 | ENSG00000177807.10 | transcript | ENST00000644903.1 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
KCNJ10_chr1_160032467_160075160 | 160049677 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0034 | 1 | 382 | 0.0026 | 40 | c.1-7 others(53): Show |
KCNJ10 | ENSG00000177807.10 | transcript | ENST00000644903.1 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
KCNJ10_chr1_160032467_160075160 | 160049679 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG02155.hp2 NA18957.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0115 a0001c0001t0003g0162 |
2 | 391 | 0.0051 | 40 | c.1-7 others(53): Show |
KCNJ10 | ENSG00000177807.10 | transcript | ENST00000644903.1 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
KCNJ10_chr1_160032467_160075160 | 160049681 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0157 | 1 | 391 | 0.0026 | 40 | c.1-7 others(53): Show |
KCNJ10 | ENSG00000177807.10 | transcript | ENST00000644903.1 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
KCNJ10_chr1_160032467_160075160 | 160049681 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 391 | 0.0026 | 40 | c.1-7 others(53): Show |
KCNJ10 | ENSG00000177807.10 | transcript | ENST00000644903.1 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
KCNJ10_chr1_160032467_160075160 | 160049681 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0191 | 1 | 391 | 0.0026 | 40 | c.1-7 others(53): Show |
KCNJ10 | ENSG00000177807.10 | transcript | ENST00000644903.1 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
KCNJ15_chr21_38251991_38312357 | 38256360 | T | TTATATAT others(33): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG02083.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0011a0001c0001t0071a0001c0003t0005 | a0001c0001t0011g0017 a0001c0001t0071g0056 a0001c0003t0005g0042 others(1): Show |
4 | 267 | 0.0150 | 40 | c.-94 others(49): Show |
KCNJ15 | ENSG00000157551.19 | transcript | ENST00000398938.7 | protein_coding | 630 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37616590 | C | CATATATA others(33): Show |
3_prime_UTR_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0170 | a0001c0001t0170g0095 | 1 | 21 | 0.0476 | 40 | c.*85 others(51): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 8568 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37630134 | C | CTGTGTGT others(33): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01243.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0063a0001c0001t0065a0001c0001t0066 | a0001c0001t0063g0172 a0001c0001t0065g0126 a0001c0001t0066g0149 |
3 | 51 | 0.0588 | 40 | c.947 others(57): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNK13_chr14_90056994_90190853 | 90143146 | A | ACTTTCTT others(33): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310 | 1 | 308 | 0.0032 | 40 | c.335 others(59): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215238848 | T | TAAATAAA others(33): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0151 | 1 | 104 | 0.0096 | 40 | c.*37 others(51): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 1759 | chr1 | TogoVar | |||||||
KCNK6_chr19_38314845_38337076 | 38328878 | G | GAGAAAGA others(33): Show |
3_prime_UTR_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01943.hp2 others(10): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0007a0002c0002t0053a0003c0003t0007others(3): Show | a0002c0002t0007g0002 a0002c0002t0053g0002 a0003c0003t0007g0002 others(3): Show |
13 | 326 | 0.0399 | 40 | c.*14 others(51): Show |
KCNK6 | ENSG00000099337.5 | transcript | ENST00000263372.5 | protein_coding | 3/3 | 1498 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KCNK9_chr8_139612121_139708123 | 139687483 | C | CACATATA others(33): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 234 | 0.0043 | 40 | c.283 others(59): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 76941018 | G | GAAGGAAG others(33): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0051 | 1 | 46 | 0.0217 | 40 | c.290 others(59): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 23/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 76969300 | G | GGGAAGGA others(33): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073 | 1 | 15 | 0.0667 | 40 | c.236 others(57): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 20/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 76969300 | G | GGGAAGGA others(33): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 15 | 0.0667 | 40 | c.236 others(57): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 20/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77572569 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 20 | 0.0500 | 40 | c.378 others(59): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAAAAA others(33): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0013 | 1 | 222 | 0.0045 | 40 | c.-12 others(51): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAAAAA others(33): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0013 | 1 | 222 | 0.0045 | 40 | c.-12 others(51): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAAAAA others(33): Show |
upstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 | 1 | 222 | 0.0045 | 40 | c.-12 others(51): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAAATA others(33): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0062 | 1 | 222 | 0.0045 | 40 | c.-12 others(51): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758291 | G | GATATATA others(33): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02698.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0106 a0001c0001t0002g0066 a0001c0001t0002g0077 |
3 | 72 | 0.0417 | 40 | c.-67 others(59): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758533 | T | TATATCCA others(33): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0079 | 1 | 229 | 0.0044 | 40 | c.-67 others(59): 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(33): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02300.hp2 HG04199.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0031 a0001c0001t0001g0244 a0002c0002t0001g0152 others(3): Show |
6 | 82 | 0.0732 | 40 | c.121 others(59): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNN2_chr5_114357070_114501496 | 114373645 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008 | 1 | 247 | 0.0040 | 40 | c.121 others(59): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154766416 | T | TTAAATAT others(33): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0085 | 1 | 3 | 0.3333 | 40 | c.144 others(59): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
KCNQ1_chr11_2440008_2854105 | 2733814 | A | ACACACAC others(33): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0174 | 1 | 58 | 0.0172 | 40 | c.151 others(61): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNQ3_chr8_132115861_132486095 | 132303565 | G | GATATATA others(33): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG01975.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0010others(6): Show | a0001c0001t0003g0155 a0001c0001t0006g0121 a0001c0001t0010g0022 others(6): Show |
9 | 42 | 0.2143 | 40 | c.387 others(61): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ5_chr6_72617064_73203853 | 72852640 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02965.hp1 HG03453.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0003a0001c0001t0018a0001c0001t0024others(3): Show | a0001c0001t0003g0011 a0001c0001t0018g0066 a0001c0001t0024g0029 others(3): Show |
6 | 26 | 0.2308 | 40 | c.399 others(61): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 72941578 | C | CCTCCCTT others(33): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG01099.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0013 a0001c0001t0003g0015 a0001c0001t0004g0020 others(7): Show |
10 | 80 | 0.1250 | 40 | c.399 others(59): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNS3_chr2_17873667_17937958 | 17887484 | G | GATCTATC others(33): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 72 | 0.0139 | 40 | c.-25 others(59): Show |
KCNS3 | ENSG00000170745.12 | transcript | ENST00000304101.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135731991 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0151 | 1 | 50 | 0.0200 | 40 | c.254 others(59): 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(33): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0251 | 1 | 50 | 0.0200 | 40 | c.254 others(59): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |