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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KANSL1_chr17_46024916_46198429 | 46096311 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0008 | a0008c0015 | a0008c0015t0002 | a0008c0015t0002g0213 | 1 | 321 | 0.0031 | 23 | c.129 others(42): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46096311 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02132.hp1 HG04115.hp1 others(2): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0002a0006c0008t0002 | a0001c0001t0002g0114a0001c0001t0002g0132a0001c0001t0002g0183others(2): Show | 5 | 321 | 0.0156 | 23 | c.129 others(42): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | ||||||
KARS1_chr16_75622724_75652665 | 75624133 | A | ATATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 380 | 0.0026 | 23 | c.*37 others(34): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3590 | chr16 | TogoVar | ||||||
KARS1_chr16_75622724_75652665 | 75624133 | A | ATATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 NA19001.hp2 |
a0001a0004 | a0001c0011a0004c0005 | a0001c0011t0001a0004c0005t0001 | a0001c0011t0001g0128a0004c0005t0001g0131 | 2 | 380 | 0.0053 | 23 | c.*37 others(34): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3590 | chr16 | TogoVar | ||||||
KARS1_chr16_75622724_75652665 | 75624133 | A | ATATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160a0001c0001t0001g0182 | 2 | 380 | 0.0053 | 23 | c.*37 others(34): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3590 | chr16 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20061919 | T | TTATATAT others(16): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp1 others(75): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0005a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(74): Show | 78 | 374 | 0.2086 | 23 | c.304 others(42): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT2B_chr3_20035446_20159404 | 20061982 | A | AACATAAT others(16): Show |
intron_variant | MODIFIER | NA18953.hp2 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068a0001c0001t0002g0070 | 2 | 374 | 0.0054 | 23 | c.304 others(42): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT2B_chr3_20035446_20159404 | 20062104 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01891.hp1 HG02109.hp2 others(25): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0003others(6): Show | a0001c0001t0002g0208a0001c0001t0002g0213a0001c0002t0002g0032others(25): Show | 28 | 374 | 0.0749 | 23 | c.304 others(42): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT2B_chr3_20035446_20159404 | 20092235 | A | ATTTATTT others(16): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00735.hp1 others(24): Show |
a0001a0005a0009 | a0001c0004a0001c0007a0005c0010others(1): Show | a0001c0004t0001a0001c0004t0003a0001c0004t0004others(5): Show | a0001c0004t0001g0074a0001c0004t0001g0093a0001c0004t0001g0161others(24): Show | 27 | 374 | 0.0722 | 23 | c.431 others(40): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT2B_chr3_20035446_20159404 | 20092236 | T | TTTATTTA others(16): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0034 | 1 | 374 | 0.0027 | 23 | c.431 others(40): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT2B_chr3_20035446_20159404 | 20149495 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02965.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0085a0001c0001t0002g0059a0001c0001t0004g0009 | 3 | 374 | 0.0080 | 23 | c.230 others(42): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT6A_chr8_41924479_42056987 | 42054262 | A | AAAAAAAT others(16): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0122 | 1 | 374 | 0.0027 | 23 | c.-26 others(34): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 2276 | chr8 | TogoVar | ||||||
KAT6A_chr8_41924479_42056987 | 42054262 | A | AAAAATAT others(16): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 HG02965.hp1 |
a0001 | a0001c0005 | a0001c0005t0020 | a0001c0005t0020g0119a0001c0005t0020g0120 | 2 | 374 | 0.0054 | 23 | c.-26 others(34): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 2276 | chr8 | TogoVar | ||||||
KATNBL1_chr15_34135674_34215096 | 34195693 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03225.hp2 HG03471.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0021a0002c0002t0002g0022a0002c0002t0002g0023others(1): Show | 4 | 344 | 0.0116 | 23 | c.-15 others(42): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14638581 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03041.hp2 HG03195.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0002c0002t0001 | a0001c0001t0010g0131a0002c0002t0001g0013a0002c0002t0001g0126others(1): Show | 4 | 146 | 0.0274 | 23 | c.226 others(42): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14695510 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0143 | 1 | 146 | 0.0069 | 23 | c.226 others(42): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14883318 | A | AGAGAGAG others(16): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0098 | 1 | 146 | 0.0069 | 23 | c.227 others(42): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14883341 | A | AGAGAGAG others(16): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0029 | 1 | 146 | 0.0069 | 23 | c.227 others(42): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14883347 | A | AGAGAGAG others(16): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0074 | 1 | 146 | 0.0069 | 23 | c.227 others(42): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14883355 | A | AGGGAGAG others(16): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0062 | 1 | 146 | 0.0069 | 23 | c.227 others(42): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 15036403 | C | CACCCAGC others(16): Show |
intron_variant | MODIFIER | HG02717.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0044a0001c0001t0005g0014 | 2 | 146 | 0.0137 | 23 | c.555 others(40): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCNB1_chr20_49358877_49487668 | 49425670 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02257.hp2 HG02895.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0055a0001c0001t0068others(6): Show | a0001c0001t0004g0170a0001c0001t0055g0118a0001c0001t0068g0241others(6): Show | 9 | 278 | 0.0324 | 23 | c.568 others(42): Show |
KCNB1 | ENSG00000158445.10 | transcript | ENST00000371741.6 | protein_coding | 1/1 | chr20 | TogoVar | ||||||
KCNC2_chr12_75035078_75214839 | 75086671 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0065 | 1 | 316 | 0.0032 | 23 | c.688 others(42): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
KCNC2_chr12_75035078_75214839 | 75138979 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02145.hp1 NA18946.hp1 NA18953.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0009 | a0001c0001t0001g0155a0001c0001t0002g0032a0001c0001t0002g0051others(2): Show | 5 | 316 | 0.0158 | 23 | c.687 others(42): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
KCNG3_chr2_42437017_42498982 | 42452243 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0234 | 1 | 342 | 0.0029 | 23 | c.666 others(40): Show |
KCNG3 | ENSG00000171126.8 | transcript | ENST00000306078.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 210806830 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 164 | 0.0061 | 23 | c.146 others(42): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | ||||||
KCNH7_chr2_162366407_162843767 | 162429383 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02615.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0033a0001c0001t0001g0040others(2): Show | 5 | 100 | 0.0500 | 23 | c.195 others(42): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 8/15 | chr2 | TogoVar | ||||||
KCNIP1_chr5_170499020_170741632 | 170568648 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03540.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0209a0001c0001t0003g0025a0001c0001t0005g0042 | 3 | 218 | 0.0138 | 23 | c.61+ others(40): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
KCNIP4_chr4_20723606_21953772 | 20988000 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0077 | 1 | 80 | 0.0125 | 23 | c.62- others(42): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21015550 | A | AATTAATA others(16): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 80 | 0.0125 | 23 | c.62- others(42): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21234023 | T | TAACACAT others(16): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 80 | 0.0125 | 23 | c.62- others(42): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21234072 | C | CATAACAT others(16): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0053 | 1 | 80 | 0.0125 | 23 | c.62- others(42): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21234127 | T | TATATAAC others(16): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02886.hp2 HG02896.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0064a0001c0001t0001g0070a0001c0001t0004g0025others(4): Show | 7 | 80 | 0.0875 | 23 | c.62- others(42): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21320964 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0014 | 2 | 80 | 0.0250 | 23 | c.62- others(42): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21400465 | T | TTTCTCCT others(16): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03098.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0056a0001c0001t0001g0068a0001c0001t0005g0072 | 3 | 80 | 0.0375 | 23 | c.62- others(42): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNJ15_chr21_38251991_38312357 | 38256380 | A | ATATATAT others(16): Show |
upstream_gene_variant | MODIFIER | NA18979.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0047 | 1 | 406 | 0.0025 | 23 | c.-92 others(32): Show |
KCNJ15 | ENSG00000157551.19 | transcript | ENST00000398938.7 | protein_coding | 610 | chr21 | TogoVar | ||||||
KCNJ3_chr2_154693695_154863354 | 154835421 | T | TATATGAA others(16): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01346.hp1 HG01361.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(3): Show | a0001c0001t0004g0096a0001c0001t0004g0111a0001c0001t0004g0112others(13): Show | 16 | 284 | 0.0563 | 23 | c.920 others(42): Show |
KCNJ3 | ENSG00000162989.5 | transcript | ENST00000295101.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KCNJ6_chr21_37602373_37921457 | 37859531 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0155 | a0001c0002t0155g0089 | 1 | 198 | 0.0051 | 23 | c.-27 others(42): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 1/3 | chr21 | TogoVar | ||||||
KCNK13_chr14_90056994_90190853 | 90101790 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0180 | 1 | 320 | 0.0031 | 23 | c.334 others(42): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KCNK13_chr14_90056994_90190853 | 90143176 | T | TTTCTTTC others(16): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0082 | 1 | 320 | 0.0031 | 23 | c.335 others(42): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KCNK18_chr10_117192489_117215299 | 117192734 | C | CTTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG01928.hp2 HG02074.hp1 others(7): Show |
a0003a0006 | a0003c0003a0006c0006 | a0003c0003t0000a0006c0006t0000 | a0003c0003t0000g0003a0003c0003t0000g0120a0006c0006t0000g0046 | 10 | 430 | 0.0233 | 23 | c.-47 others(34): Show |
KCNK18 | ENSG00000186795.1 | transcript | ENST00000334549.1 | protein_coding | 4754 | chr10 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215209476 | T | TTATATAT others(16): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00558.hp1 others(82): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(32): Show | a0001c0001t0001g0013a0001c0001t0001g0155a0001c0001t0001g0157others(82): Show | 85 | 260 | 0.3269 | 23 | c.963 others(42): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCNK2_chr1_215077737_215242090 | 215209476 | T | TTATATAT others(16): Show |
intron_variant | MODIFIER | NA18948.hp1 NA18992.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0167a0001c0001t0006g0165 | 2 | 260 | 0.0077 | 23 | c.963 others(42): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCNK2_chr1_215077737_215242090 | 215209972 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0136 | 1 | 260 | 0.0039 | 23 | c.963 others(42): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCNK2_chr1_215077737_215242090 | 215236045 | A | AATCTATC others(16): Show |
3_prime_UTR_variant | MODIFIER | HG02738.hp1 HG02895.hp2 NA18612.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0035a0001c0001t0050a0001c0001t0061 | a0001c0001t0035g0141a0001c0001t0035g0213a0001c0001t0050g0198others(1): Show | 4 | 260 | 0.0154 | 23 | c.*91 others(32): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 7/7 | 912 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
KCNK3_chr2_26687722_26738420 | 26735236 | C | CACACACA others(16): Show |
downstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0040 | 1 | 336 | 0.0030 | 23 | c.*66 others(34): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1817 | chr2 | TogoVar | ||||||
KCNK4_chr11_64286302_64305031 | 64304830 | C | CGTGACCT others(16): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00621.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(12): Show | 26 | 406 | 0.0640 | 23 | c.*51 others(34): Show |
KCNK4 | ENSG00000182450.14 | transcript | ENST00000422670.7 | protein_coding | 4800 | chr11 | TogoVar | ||||||
KCNMB1_chr5_170369671_170394367 | 170370775 | T | TCAGACTG others(16): Show |
downstream_gene_variant | MODIFIER | NA18974.hp1 | a0002 | a0002c0002 | a0002c0002t0065 | a0002c0002t0065g0072 | 1 | 432 | 0.0023 | 23 | c.*79 others(34): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 3895 | chr5 | TogoVar | ||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 HG01515.hp1 HG01517.hp2 |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0011a0003c0003t0037 | a0003c0003t0003g0085a0003c0003t0011g0036a0003c0003t0037g0084 | 3 | 432 | 0.0069 | 23 | c.-12 others(34): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | ||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 HG03710.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0011 | a0001c0001t0003g0019a0003c0003t0011g0036 | 2 | 432 | 0.0046 | 23 | c.-12 others(34): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar |