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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCND2_chr7_120268175_120755337 | 120701240 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01891.hp1 HG02080.hp1 others(9): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0054 others(9): Show |
12 | 80 | 0.1500 | -9 | c.111 others(30): Show |
KCND2 | ENSG00000184408.10 | transcript | ENST00000331113.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KCND2_chr7_120268175_120755337 | 120712241 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG02630.hp1 HG02647.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0026a0003c0004t0005others(1): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(4): Show |
7 | 80 | 0.0875 | -9 | c.111 others(30): Show |
KCND2 | ENSG00000184408.10 | transcript | ENST00000331113.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KCND3_chr1_111765662_111994668 | 111940073 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG02080.hp2 others(19): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0056 others(19): Show |
22 | 226 | 0.0974 | -9 | c.110 others(30): Show |
KCND3 | ENSG00000171385.11 | transcript | ENST00000302127.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
KCND3_chr1_111765662_111994668 | 111951157 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00639.hp2 others(41): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0030 others(41): Show |
44 | 226 | 0.1947 | -9 | c.110 others(30): Show |
KCND3 | ENSG00000171385.11 | transcript | ENST00000302127.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
KCNE2_chr21_34359006_34376381 | 34368258 | ATATGTAT others(2): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG03834.hp1 NA18970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0180 others(2): Show |
5 | 434 | 0.0115 | -9 | c.-12 others(26): Show |
KCNE2 | ENSG00000159197.4 | transcript | ENST00000290310.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
KCNG4_chr16_84213657_84245012 | 84242150 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02615.hp1 HG02895.hp1 others(14): Show |
a0001a0007a0011others(3): Show | a0001c0001a0001c0002a0001c0042others(6): Show | a0001c0001t0042a0001c0002t0112a0001c0042t0109others(9): Show | a0001c0001t0042g0019 a0001c0002t0112g0368 a0001c0042t0109g0325 others(10): Show |
17 | 472 | 0.0360 | -9 | c.-25 others(20): Show |
KCNG4 | ENSG00000168418.8 | transcript | ENST00000308251.6 | protein_coding | 2139 | chr16 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210673777 | ATTTATTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG03098.hp1 HG03453.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0001t0017a0001c0002t0014 | a0001c0001t0014g0062 a0001c0001t0017g0151 a0001c0002t0014g0149 |
3 | 164 | 0.0183 | -9 | c.*94 others(20): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 4536 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210716448 | AGCATGTT others(2): Show |
A | intron_variant | MODIFIER | HG02818.hp2 HG02886.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0012a0001c0001t0035others(1): Show | a0001c0001t0005g0147 a0001c0001t0012g0136 a0001c0001t0035g0162 others(1): Show |
4 | 164 | 0.0244 | -9 | c.211 others(30): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 10/10 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210718251 | CTATAAAT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(90): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0014 others(90): Show |
93 | 164 | 0.5671 | -9 | c.211 others(30): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 10/10 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210738552 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02896.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0020others(2): Show | a0001c0001t0002g0143 a0001c0001t0002g0156 a0001c0001t0005g0013 others(5): Show |
8 | 164 | 0.0488 | -9 | c.211 others(30): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 10/10 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210761249 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp2 HG02630.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0002g0010 a0001c0001t0004g0020 a0001c0001t0005g0005 others(5): Show |
8 | 164 | 0.0488 | -9 | c.211 others(30): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 10/10 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210806806 | CCAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG01074.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0037 others(22): Show |
25 | 164 | 0.1524 | -9 | c.146 others(28): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210919021 | TGACATGT others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(70): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0014 others(70): Show |
73 | 164 | 0.4451 | -9 | c.146 others(26): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 211035236 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00733.hp2 others(29): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0014 others(29): Show |
32 | 164 | 0.1951 | -9 | c.559 others(28): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 5/10 | chr1 | TogoVar | |||||||
KCNH3_chr12_49534030_49563337 | 49534307 | GGTTGTTG others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01261.hp2 HG02647.hp1 HG02723.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0104 a0001c0001t0005g0102 others(5): Show |
9 | 264 | 0.0341 | -9 | c.-51 others(20): Show |
KCNH3 | ENSG00000135519.8 | transcript | ENST00000257981.7 | protein_coding | 4722 | chr12 | TogoVar | |||||||
KCNH5_chr14_62694464_63050458 | 62909032 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00621.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0011 a0001c0001t0001g0034 a0001c0001t0001g0101 others(31): Show |
34 | 224 | 0.1518 | -9 | c.136 others(30): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 7/10 | chr14 | TogoVar | |||||||
KCNH5_chr14_62694464_63050458 | 62965643 | TTTCTCAA others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00733.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0001g0011 a0001c0001t0001g0162 a0001c0001t0001g0163 others(17): Show |
20 | 224 | 0.0893 | -9 | c.943 others(28): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 6/10 | chr14 | TogoVar | |||||||
KCNH7_chr2_162366407_162843767 | 162492865 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG02523.hp1 HG02809.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(1): Show | a0001c0001t0001g0098 a0001c0003t0001g0056 a0001c0003t0001g0064 others(7): Show |
10 | 100 | 0.1000 | -9 | c.112 others(30): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 6/15 | chr2 | TogoVar | |||||||
KCNH7_chr2_162366407_162843767 | 162769248 | TTCTACCT others(2): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG01261.hp2 HG01496.hp2 others(38): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(38): Show |
41 | 100 | 0.4100 | -9 | c.307 others(28): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | |||||||
KCNH7_chr2_162366407_162843767 | 162807256 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG01496.hp2 HG02145.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 others(9): Show |
12 | 100 | 0.1200 | -9 | c.307 others(28): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | |||||||
KCNIP1_chr5_170499020_170741632 | 170534471 | AAGGAGGA others(2): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02922.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0020 a0001c0001t0001g0096 a0001c0001t0001g0097 others(11): Show |
14 | 218 | 0.0642 | -9 | c.61+ others(26): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 20802211 | ACATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG01433.hp2 HG01517.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0031 others(18): Show |
21 | 80 | 0.2625 | -9 | c.289 others(28): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 3/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21104171 | CAATGGTT others(2): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01106.hp2 HG01123.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0031 others(32): Show |
35 | 80 | 0.4375 | -9 | c.62- others(28): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21192915 | TCTACTAC others(2): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01123.hp1 HG01243.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0054 others(19): Show |
22 | 80 | 0.2750 | -9 | c.62- others(28): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21325575 | CTGTTTTC others(2): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0013 a0001c0001t0003g0002 |
2 | 80 | 0.0250 | -9 | c.62- others(28): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21691691 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG02145.hp1 HG02257.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0031 a0001c0001t0001g0064 a0001c0001t0001g0066 others(5): Show |
8 | 80 | 0.1000 | -9 | c.61+ others(28): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21694936 | ATAAATAA others(2): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG02698.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0070 a0001c0002t0001g0049 |
2 | 80 | 0.0250 | -9 | c.61+ others(28): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21793421 | CTAATTTT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG02055.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0068 others(15): Show |
18 | 80 | 0.2250 | -9 | c.61+ others(28): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21798401 | ATACATAT others(2): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02647.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0070 a0001c0001t0003g0002 a0001c0001t0005g0034 others(1): Show |
4 | 80 | 0.0500 | -9 | c.61+ others(28): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21908323 | TGTATGAC others(2): Show |
T | intron_variant | MODIFIER | HG01433.hp1 HG02300.hp2 HG02896.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0008 | a0001c0001t0001g0031 a0001c0001t0007g0016 a0001c0002t0008g0010 |
3 | 80 | 0.0375 | -9 | c.61+ others(26): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNJ14_chr19_48450574_48471980 | 48467840 | CTGGCCAA others(2): Show |
C | downstream_gene_variant | MODIFIER | NA18959.hp1 NA18974.hp1 NA18989.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 a0001c0001t0002g0034 a0001c0001t0002g0107 others(1): Show |
4 | 392 | 0.0102 | -9 | c.*30 others(20): Show |
KCNJ14 | ENSG00000182324.7 | transcript | ENST00000342291.3 | protein_coding | 861 | chr19 | TogoVar | |||||||
KCNJ16_chr17_70070225_70140608 | 70092557 | GATGATAG others(2): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01978.hp1 HG04204.hp2 others(3): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0076 a0001c0001t0001g0165 a0001c0001t0002g0038 others(3): Show |
6 | 330 | 0.0182 | -9 | c.-29 others(28): Show |
KCNJ16 | ENSG00000153822.15 | transcript | ENST00000392671.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KCNJ2_chr17_70164532_70185044 | 70172312 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG00741.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0004g0021 a0001c0001t0005g0021 a0001c0001t0007g0060 others(3): Show |
6 | 448 | 0.0134 | -9 | c.-21 others(28): Show |
KCNJ2 | ENSG00000123700.5 | transcript | ENST00000243457.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KCNJ3_chr2_154693695_154863354 | 154850008 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG01074.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0094 a0001c0001t0002g0047 a0001c0001t0002g0102 others(20): Show |
23 | 284 | 0.0810 | -9 | c.920 others(26): Show |
KCNJ3 | ENSG00000162989.5 | transcript | ENST00000295101.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37615244 | CTTTTTTT others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(73): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0024others(72): Show | a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0009g0001 others(73): Show |
76 | 198 | 0.3838 | -9 | c.*99 others(20): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 9906 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37685680 | CCAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG02257.hp2 HG02486.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0028a0001c0001t0095a0001c0001t0179others(7): Show | a0001c0001t0028g0142 a0001c0001t0095g0138 a0001c0001t0179g0079 others(7): Show |
10 | 198 | 0.0505 | -9 | c.946 others(28): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37745072 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01106.hp2 HG01256.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0057a0001c0001t0060others(10): Show | a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0057g0193 others(12): Show |
15 | 198 | 0.0758 | -9 | c.26- others(26): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37769412 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG02109.hp1 HG02895.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0067a0001c0001t0167a0001c0002t0143 | a0001c0001t0067g0098 a0001c0001t0167g0015 a0001c0002t0143g0147 |
3 | 198 | 0.0152 | -9 | c.26- others(26): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37863851 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG02280.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0072a0001c0001t0108a0001c0001t0163others(3): Show | a0001c0001t0072g0007 a0001c0001t0108g0062 a0001c0001t0163g0056 others(3): Show |
6 | 198 | 0.0303 | -9 | c.-27 others(28): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88220416 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02630.hp2 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0079 | a0001c0001t0006g0108 a0001c0001t0006g0225 a0001c0001t0006g0258 others(3): Show |
6 | 334 | 0.0180 | -9 | c.681 others(26): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 4/6 | chr14 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88251149 | CTTGAACC others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 NA18939.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0195 a0001c0001t0010g0025 a0001c0001t0010g0079 others(3): Show |
6 | 334 | 0.0180 | -9 | c.403 others(28): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 2/6 | chr14 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88325679 | GCCTCCAG others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(106): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(58): Show | a0001c0001t0001g0137 a0001c0001t0001g0175 a0001c0001t0002g0027 others(106): Show |
109 | 334 | 0.3264 | -9 | c.-28 others(20): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 2411 | chr14 | TogoVar | |||||||
KCNK12_chr2_47504290_47575985 | 47574859 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00609.hp2 others(60): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(27): Show | a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0071 others(58): Show |
63 | 388 | 0.1624 | -9 | c.-45 others(20): Show |
KCNK12 | ENSG00000184261.5 | transcript | ENST00000327876.5 | protein_coding | 3875 | chr2 | TogoVar | |||||||
KCNK13_chr14_90056994_90190853 | 90092912 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG02486.hp1 HG02818.hp2 others(5): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0008 | a0001c0001t0001a0003c0003t0001a0008c0008t0001 | a0001c0001t0001g0154 a0001c0001t0001g0219 a0003c0003t0001g0176 others(5): Show |
8 | 320 | 0.0250 | -9 | c.334 others(28): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KCNK13_chr14_90056994_90190853 | 90143167 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG02976.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0003c0003t0001a0003c0003t0008 | a0001c0001t0004g0120 a0001c0001t0004g0121 a0003c0003t0001g0188 others(1): Show |
4 | 320 | 0.0125 | -9 | c.335 others(28): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KCNK18_chr10_117192489_117215299 | 117196464 | ATGGTTTC others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01433.hp1 HG02055.hp2 HG02818.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0109 |
8 | 430 | 0.0186 | -9 | c.-10 others(20): Show |
KCNK18 | ENSG00000186795.1 | transcript | ENST00000334549.1 | protein_coding | 1024 | chr10 | TogoVar | |||||||
KCNK18_chr10_117192489_117215299 | 117202886 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(57): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0007 | a0001c0001t0001a0003c0003t0001a0006c0007t0001 | a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0045 others(12): Show |
60 | 430 | 0.1395 | -9 | c.352 others(26): Show |
KCNK18 | ENSG00000186795.1 | transcript | ENST00000334549.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KCNK1_chr1_233609106_233677514 | 233644669 | AAACCAGG others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01069.hp2 others(68): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(63): Show |
71 | 422 | 0.1683 | -9 | c.356 others(28): Show |
KCNK1 | ENSG00000135750.15 | transcript | ENST00000366621.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK1_chr1_233609106_233677514 | 233662238 | CCTTCTTC others(2): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG02258.hp1 HG02615.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0173 a0001c0001t0002g0232 a0001c0001t0002g0247 others(11): Show |
15 | 422 | 0.0356 | -9 | c.356 others(26): Show |
KCNK1 | ENSG00000135750.15 | transcript | ENST00000366621.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK1_chr1_233609106_233677514 | 233662265 | TCTTCTTC others(2): Show |
T | intron_variant | MODIFIER | HG02129.hp2 NA18962.hp2 NA18978.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0282 a0001c0001t0002g0214 a0001c0001t0002g0287 others(5): Show |
8 | 422 | 0.0190 | -9 | c.356 others(26): Show |
KCNK1 | ENSG00000135750.15 | transcript | ENST00000366621.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |