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 | 15041331 | C | CTTTTTTT | intron_variant | MODIFIER | HG01167.hp2 HG01891.hp1 HG02055.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0002g0137 a0001c0001t0003g0139 a0001c0001t0009g0115 others(3): Show |
6 | 146 | 0.0411 | 7 | c.556 others(24): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 15046297 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG01358.hp1 others(19): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0002g0003 others(19): Show |
22 | 146 | 0.1507 | 7 | c.726 others(24): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 15050159 | G | GATAGATA | intron_variant | MODIFIER | HG01099.hp2 HG02055.hp1 HG02055.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0003t0004others(4): Show | a0001c0001t0002g0006 a0001c0001t0004g0009 a0001c0003t0004g0094 others(5): Show |
8 | 146 | 0.0548 | 7 | c.727 others(24): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 4/14 | chr1 | TogoVar | |||||||
KBTBD12_chr3_127910232_127992666 | 127945164 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00597.hp1 others(29): Show |
a0002a0003 | a0002c0004a0003c0002a0003c0006 | a0002c0004t0010a0003c0002t0002a0003c0002t0006others(1): Show | a0002c0004t0010g0259 a0003c0002t0002g0017 a0003c0002t0002g0018 others(26): Show |
32 | 402 | 0.0796 | 7 | c.149 others(28): Show |
KBTBD12 | ENSG00000187715.13 | transcript | ENST00000405109.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KBTBD12_chr3_127910232_127992666 | 127963630 | A | AGTGTGTT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(94): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0002others(2): Show | a0001c0001t0007a0001c0001t0017a0002c0003t0002others(10): Show | a0001c0001t0007g0012 a0001c0001t0007g0138 a0001c0001t0007g0173 others(82): Show |
97 | 402 | 0.2413 | 7 | c.169 others(24): Show |
KBTBD12 | ENSG00000187715.13 | transcript | ENST00000405109.5 | protein_coding | 5/5 | chr3 | TogoVar | |||||||
KBTBD12_chr3_127910232_127992666 | 127963633 | C | CTTCAGGT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(94): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0002others(2): Show | a0001c0001t0007a0001c0001t0017a0002c0003t0002others(10): Show | a0001c0001t0007g0012 a0001c0001t0007g0138 a0001c0001t0007g0173 others(82): Show |
97 | 402 | 0.2413 | 7 | c.169 others(24): Show |
KBTBD12 | ENSG00000187715.13 | transcript | ENST00000405109.5 | protein_coding | 5/5 | chr3 | TogoVar | |||||||
KCMF1_chr2_84966161_85064472 | 84974692 | T | TATATATA | intron_variant | MODIFIER | HG02602.hp2 HG03688.hp1 HG03927.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0057others(1): Show | a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0209 others(3): Show |
6 | 274 | 0.0219 | 7 | c.16+ others(22): Show |
KCMF1 | ENSG00000176407.18 | transcript | ENST00000409785.9 | protein_coding | 1/6 | chr2 | TogoVar | |||||||
KCMF1_chr2_84966161_85064472 | 85008291 | T | TATATATC | intron_variant | MODIFIER | HG00733.hp1 HG00738.hp1 HG01106.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0014a0001c0001t0027others(10): Show | a0001c0001t0007g0002 a0001c0001t0007g0003 a0001c0001t0007g0005 others(15): Show |
18 | 274 | 0.0657 | 7 | c.17- others(24): Show |
KCMF1 | ENSG00000176407.18 | transcript | ENST00000409785.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNAB1_chr3_156115578_156543605 | 156312650 | T | TGCAGTGA | intron_variant | MODIFIER | HG01069.hp2 HG01884.hp1 HG01891.hp2 others(54): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(54): Show |
57 | 124 | 0.4597 | 7 | c.276 others(28): Show |
KCNAB1 | ENSG00000169282.19 | transcript | ENST00000490337.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNAB1_chr3_156115578_156543605 | 156338303 | C | CTTTTTTT | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02257.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0007 a0001c0001t0001g0055 a0001c0001t0001g0064 others(8): Show |
11 | 124 | 0.0887 | 7 | c.276 others(26): Show |
KCNAB1 | ENSG00000169282.19 | transcript | ENST00000490337.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNAB3_chr17_7916859_7934856 | 7921124 | T | TATGGCAA | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp1 others(122): Show |
a0001a0006 | a0001c0001a0001c0010a0006c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(31): Show |
125 | 428 | 0.2921 | 7 | c.*19 others(18): Show |
KCNAB3 | ENSG00000170049.10 | transcript | ENST00000303790.3 | protein_coding | 734 | chr17 | TogoVar | |||||||
KCNB1_chr20_49358877_49487668 | 49378205 | G | GTTTTTTT | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02896.hp2 others(10): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0009 | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(8): Show | a0001c0001t0003g0195 a0001c0001t0004g0022 a0001c0001t0012g0057 others(10): Show |
13 | 278 | 0.0468 | 7 | c.568 others(24): Show |
KCNB1 | ENSG00000158445.10 | transcript | ENST00000371741.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
KCNB1_chr20_49358877_49487668 | 49382801 | C | CTTTTTTT | intron_variant | MODIFIER | HG01099.hp2 HG01192.hp1 HG02698.hp2 others(5): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0004a0001c0001t0009a0001c0001t0010others(5): Show | a0001c0001t0004g0033 a0001c0001t0009g0042 a0001c0001t0010g0074 others(5): Show |
8 | 278 | 0.0288 | 7 | c.568 others(24): Show |
KCNB1 | ENSG00000158445.10 | transcript | ENST00000371741.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
KCNB1_chr20_49358877_49487668 | 49401290 | C | CTTTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG02027.hp1 HG02055.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0010a0001c0001t0084others(3): Show | a0001c0001t0005g0024 a0001c0001t0005g0238 a0001c0001t0005g0246 others(5): Show |
8 | 278 | 0.0288 | 7 | c.568 others(26): Show |
KCNB1 | ENSG00000158445.10 | transcript | ENST00000371741.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
KCNB1_chr20_49358877_49487668 | 49425670 | T | TATATATA | intron_variant | MODIFIER | HG00140.hp1 HG01243.hp2 HG01928.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0001g0257 others(10): Show |
13 | 278 | 0.0468 | 7 | c.568 others(26): Show |
KCNB1 | ENSG00000158445.10 | transcript | ENST00000371741.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
KCNB2_chr8_72532225_72943349 | 72553421 | A | AAAATTTT | intron_variant | MODIFIER | HG01978.hp2 HG02056.hp1 HG02132.hp2 others(9): Show |
a0001 | a0001c0003a0001c0011 | a0001c0003t0001a0001c0011t0001 | a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0008 others(9): Show |
12 | 164 | 0.0732 | 7 | c.-93 others(26): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
KCNB2_chr8_72532225_72943349 | 72778733 | C | CAAAAAAA | intron_variant | MODIFIER | HG00673.hp1 HG00741.hp1 HG01074.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0117 others(10): Show |
13 | 164 | 0.0793 | 7 | c.580 others(28): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KCNB2_chr8_72532225_72943349 | 72851826 | G | GAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG01261.hp1 HG02080.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0029 a0001c0001t0001g0114 a0001c0001t0001g0118 others(6): Show |
9 | 164 | 0.0549 | 7 | c.580 others(26): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KCNC2_chr12_75035078_75214839 | 75069129 | C | CTTTTTTT | intron_variant | MODIFIER | HG01257.hp1 HG02258.hp2 HG02559.hp1 others(14): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(7): Show | a0001c0001t0001g0087 a0001c0001t0002g0034 a0001c0001t0002g0039 others(14): Show |
17 | 316 | 0.0538 | 7 | c.688 others(26): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
KCNC2_chr12_75035078_75214839 | 75071937 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG01081.hp2 others(18): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0273 a0001c0001t0002g0032 a0001c0001t0002g0143 others(18): Show |
21 | 316 | 0.0665 | 7 | c.688 others(26): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
KCNC2_chr12_75035078_75214839 | 75086679 | A | ATATATAT | intron_variant | MODIFIER | HG01891.hp2 HG02080.hp2 HG02257.hp1 others(18): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0118 a0001c0001t0001g0135 a0001c0001t0001g0136 others(18): Show |
21 | 316 | 0.0665 | 7 | c.688 others(26): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
KCNC2_chr12_75035078_75214839 | 75086681 | A | ATATATAT | intron_variant | MODIFIER | NA18983.hp1 NA18987.hp1 NA19091.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0162 a0001c0001t0001g0188 a0003c0005t0001g0134 |
3 | 316 | 0.0095 | 7 | c.688 others(26): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
KCNC2_chr12_75035078_75214839 | 75138979 | T | TAAAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG02071.hp1 HG02080.hp2 others(17): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(1): Show | a0001c0001t0001g0076 a0001c0001t0001g0127 a0001c0001t0001g0135 others(17): Show |
20 | 316 | 0.0633 | 7 | c.687 others(26): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
KCNC4_chr1_110205314_110239044 | 110213170 | T | TAAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00735.hp2 others(22): Show |
a0001a0002a0015 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0002g0007 a0001c0001t0002g0014 a0001c0001t0002g0053 others(19): Show |
25 | 430 | 0.0581 | 7 | c.678 others(24): Show |
KCNC4 | ENSG00000116396.15 | transcript | ENST00000438661.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCND2_chr7_120268175_120755337 | 120437204 | C | CTTTTTTT | intron_variant | MODIFIER | HG01192.hp1 HG01981.hp1 HG02080.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0044 others(6): Show |
9 | 80 | 0.1125 | 7 | 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 | 120508891 | A | ATTTTTTT | intron_variant | MODIFIER | HG01496.hp1 HG01891.hp1 HG01981.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0058 others(15): Show |
18 | 80 | 0.2250 | 7 | 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 | 120542702 | C | CTTACATT | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp2 HG02922.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0008 | a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0008g0062 |
3 | 80 | 0.0375 | 7 | 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 | 111866579 | A | ACACACAC | intron_variant | MODIFIER | HG02056.hp2 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0173 a0001c0001t0007g0123 |
2 | 226 | 0.0089 | 7 | c.110 others(28): Show |
KCND3 | ENSG00000171385.11 | transcript | ENST00000302127.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79872280 | G | GTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00558.hp2 others(60): Show |
a0002a0007 | a0002c0002a0002c0004a0007c0011 | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(1): Show | a0002c0002t0001g0030 a0002c0002t0001g0050 a0002c0002t0001g0060 others(60): Show |
63 | 312 | 0.2019 | 7 | c.624 others(24): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79872287 | T | TTTTTTTG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(73): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0006a0004c0008others(2): Show | a0001c0001t0001a0001c0001t0008a0003c0006t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(72): Show |
76 | 312 | 0.2436 | 7 | c.624 others(24): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG3_chr2_42437017_42498982 | 42455778 | A | ATAAAAAT | intron_variant | MODIFIER | HG02523.hp2 NA18990.hp2 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052 a0001c0001t0003g0055 a0001c0001t0003g0065 |
3 | 342 | 0.0088 | 7 | c.666 others(26): Show |
KCNG3 | ENSG00000171126.8 | transcript | ENST00000306078.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
KCNG4_chr16_84213657_84245012 | 84221480 | G | GCCCAGGT | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(195): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0015others(21): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(76): Show | a0001c0001t0001g0038 a0001c0001t0001g0166 a0001c0001t0001g0175 others(141): Show |
198 | 472 | 0.4195 | 7 | c.*73 others(16): Show |
KCNG4 | ENSG00000168418.8 | transcript | ENST00000308251.6 | protein_coding | 3/3 | 736 | chr16 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 210716431 | C | CAAAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG02165.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0002g0054 a0001c0001t0002g0080 a0001c0001t0002g0081 others(6): Show |
9 | 164 | 0.0549 | 7 | c.211 others(28): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 10/10 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210853946 | C | CAAAAAAA | intron_variant | MODIFIER | HG02280.hp2 HG02717.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0097 a0001c0001t0004g0046 a0001c0001t0005g0013 others(2): Show |
5 | 164 | 0.0305 | 7 | c.146 others(28): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 211016908 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG01243.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0040 a0001c0001t0002g0077 a0001c0001t0002g0088 others(25): Show |
28 | 164 | 0.1707 | 7 | c.103 others(26): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 6/10 | chr1 | TogoVar | |||||||
KCNH5_chr14_62694464_63050458 | 62709232 | C | CAAAAAAA | intron_variant | MODIFIER | HG00733.hp2 HG01168.hp1 HG01255.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(8): Show | a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0018 others(23): Show |
26 | 224 | 0.1161 | 7 | c.202 others(24): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 10/10 | chr14 | TogoVar | |||||||
KCNH5_chr14_62694464_63050458 | 62814782 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(6): Show | a0001c0001t0001g0023 a0001c0001t0001g0051 a0001c0001t0001g0072 others(13): Show |
16 | 224 | 0.0714 | 7 | c.157 others(28): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 8/10 | chr14 | TogoVar | |||||||
KCNH5_chr14_62694464_63050458 | 62840552 | T | TTTTTTTC | intron_variant | MODIFIER | HG00544.hp2 HG01167.hp2 HG02486.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0019a0001c0004t0012a0002c0002t0003others(1): Show | a0001c0001t0019g0022 a0001c0004t0012g0048 a0002c0002t0003g0219 others(1): Show |
4 | 224 | 0.0179 | 7 | c.156 others(26): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 8/10 | chr14 | TogoVar | |||||||
KCNH5_chr14_62694464_63050458 | 62908782 | A | ATTTTTTT | intron_variant | MODIFIER | HG01074.hp2 HG01928.hp2 HG01981.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0075 others(2): Show |
5 | 224 | 0.0223 | 7 | c.136 others(28): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 7/10 | chr14 | TogoVar | |||||||
KCNH5_chr14_62694464_63050458 | 62909032 | A | ATTTTTTT | intron_variant | MODIFIER | HG01074.hp2 HG01891.hp1 HG02015.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0007a0001c0001t0025others(2): Show | a0001c0001t0005g0203 a0001c0001t0007g0222 a0001c0001t0025g0223 others(3): Show |
6 | 224 | 0.0268 | 7 | c.136 others(28): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 7/10 | chr14 | TogoVar | |||||||
KCNH7_chr2_162366407_162843767 | 162469185 | T | TACATTTG | intron_variant | MODIFIER | HG02258.hp2 HG02809.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0033 a0001c0008t0001g0016 |
2 | 100 | 0.0200 | 7 | c.112 others(28): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 6/15 | chr2 | TogoVar | |||||||
KCNH7_chr2_162366407_162843767 | 162500370 | G | GTATATAT | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(95): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(95): Show |
98 | 100 | 0.9800 | 7 | c.112 others(26): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 6/15 | chr2 | TogoVar | |||||||
KCNH7_chr2_162366407_162843767 | 162563507 | T | TCTAGAAA | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0074 a0002c0002t0001g0027 |
2 | 100 | 0.0200 | 7 | c.308 others(26): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | |||||||
KCNH7_chr2_162366407_162843767 | 162601399 | C | CTTTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG02523.hp1 HG02523.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(9): Show |
12 | 100 | 0.1200 | 7 | c.308 others(26): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | |||||||
KCNH7_chr2_162366407_162843767 | 162621252 | C | CTTTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00735.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0046 others(18): Show |
21 | 100 | 0.2100 | 7 | c.308 others(26): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | |||||||
KCNH7_chr2_162366407_162843767 | 162739897 | A | ATTGATTT | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp1 HG02132.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(23): Show |
26 | 100 | 0.2600 | 7 | c.307 others(26): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | |||||||
KCNIP1_chr5_170499020_170741632 | 170504038 | T | TGGCAGCA | 5_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02280.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0013a0001c0001t0014others(3): Show | a0001c0001t0010g0017 a0001c0001t0010g0018 a0001c0001t0013g0024 others(4): Show |
7 | 218 | 0.0321 | 7 | c.-51 others(16): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/8 | 510 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
KCNIP1_chr5_170499020_170741632 | 170568648 | T | TAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00642.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 others(40): Show |
43 | 218 | 0.1973 | 7 | c.61+ others(24): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNIP1_chr5_170499020_170741632 | 170624733 | G | GGTGGGGT | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG00639.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0064 others(29): Show |
32 | 218 | 0.1468 | 7 | c.62- others(24): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNIP1_chr5_170499020_170741632 | 170626874 | G | GGATCCGT | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00609.hp2 others(116): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0058 others(116): Show |
119 | 218 | 0.5459 | 7 | c.62- others(24): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |