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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KASH5_chr19_49383249_49422990 | 49405456 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00544.hp2 others(43): Show |
a0001a0003a0010 | a0001c0001a0003c0008a0010c0020 | a0001c0001t0003a0001c0001t0013a0003c0008t0003others(1): Show | a0001c0001t0003g0022a0001c0001t0003g0023a0001c0001t0003g0168others(41): Show | 46 | 354 | 0.1299 | -7 | c.799 others(24): Show |
KASH5 | ENSG00000161609.10 | transcript | ENST00000447857.8 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KAT14_chr20_18132863_18193035 | 18141040 | TTTTTTTA | T | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00609.hp1 others(37): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(11): Show | a0001c0001t0001g0074a0001c0001t0001g0094a0001c0001t0002g0086others(35): Show | 40 | 346 | 0.1156 | -7 | c.-45 others(26): Show |
KAT14 | ENSG00000149474.15 | transcript | ENST00000688188.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
KAT14_chr20_18132863_18193035 | 18164611 | CTTGTTCT | C | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG01069.hp2 others(39): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0041a0001c0001t0001g0047a0001c0001t0001g0162others(33): Show | 42 | 346 | 0.1214 | -7 | c.166 others(26): Show |
KAT14 | ENSG00000149474.15 | transcript | ENST00000688188.1 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
KAT14_chr20_18132863_18193035 | 18191852 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00639.hp1 HG00738.hp2 others(51): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(6): Show | a0001c0001t0001g0162a0001c0001t0001g0167a0001c0001t0001g0168others(45): Show | 54 | 346 | 0.1561 | -7 | c.*43 others(18): Show |
KAT14 | ENSG00000149474.15 | transcript | ENST00000688188.1 | protein_coding | 3818 | chr20 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20062422 | TATATATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(81): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0048a0001c0001t0001g0160a0001c0001t0001g0304others(81): Show | 84 | 374 | 0.2246 | -7 | c.304 others(24): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT2B_chr3_20035446_20159404 | 20145554 | GTTTTTTT | G | intron_variant | MODIFIER | HG00735.hp1 HG01255.hp2 HG02602.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0002t0004a0001c0004t0004 | a0001c0001t0004g0196a0001c0001t0004g0197a0001c0001t0004g0201others(3): Show | 6 | 374 | 0.0160 | -7 | c.200 others(24): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT6A_chr8_41924479_42056987 | 42031617 | CTTTTTTT | C | intron_variant | MODIFIER | HG01074.hp1 HG01081.hp2 HG01099.hp2 others(20): Show |
a0002 | a0002c0002a0002c0011 | a0002c0002t0001a0002c0002t0018a0002c0011t0001 | a0002c0002t0001g0005a0002c0002t0001g0006a0002c0002t0001g0302others(18): Show | 23 | 374 | 0.0615 | -7 | c.600 others(26): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 2/16 | chr8 | TogoVar | ||||||
KAT6A_chr8_41924479_42056987 | 42040735 | CAAAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG00735.hp1 others(27): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0094a0002c0002t0001a0002c0002t0015others(6): Show | a0001c0001t0094g0141a0002c0002t0001g0008a0002c0002t0001g0009others(24): Show | 30 | 374 | 0.0802 | -7 | c.600 others(24): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 2/16 | chr8 | TogoVar | ||||||
KATNA1_chr6_149589873_149653714 | 149599581 | CTCTCCCT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00642.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0058a0001c0001t0001g0063a0001c0001t0001g0067others(27): Show | 30 | 296 | 0.1014 | -7 | c.889 others(24): Show |
KATNA1 | ENSG00000186625.14 | transcript | ENST00000367411.7 | protein_coding | 7/10 | chr6 | TogoVar | ||||||
KATNAL1_chr13_30197630_30312551 | 30277982 | CAAAAAAA | C | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02723.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0042a0001c0001t0065a0001c0001t0125others(6): Show | a0001c0001t0042g0242a0001c0001t0065g0046a0001c0001t0125g0026others(6): Show | 9 | 386 | 0.0233 | -7 | c.323 others(24): Show |
KATNAL1 | ENSG00000102781.14 | transcript | ENST00000380615.8 | protein_coding | 3/10 | chr13 | TogoVar | ||||||
KATNAL1_chr13_30197630_30312551 | 30309048 | TCCACCTA | T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00642.hp2 others(35): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0016a0001c0001t0003g0003a0001c0001t0003g0246others(34): Show | 38 | 386 | 0.0985 | -7 | c.-17 others(18): Show |
KATNAL1 | ENSG00000102781.14 | transcript | ENST00000380615.8 | protein_coding | 1498 | chr13 | TogoVar | ||||||
KATNIP_chr16_27545144_27785344 | 27616886 | CTAAAAAA | C | intron_variant | MODIFIER | HG02965.hp2 HG03453.hp2 HG03471.hp2 others(1): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0001a0002c0002t0003 | a0001c0004t0001g0132a0002c0002t0003g0134a0002c0002t0003g0135others(1): Show | 4 | 152 | 0.0263 | -7 | c.64- others(22): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 2/27 | chr16 | TogoVar | ||||||
KATNIP_chr16_27545144_27785344 | 27616887 | TAAAAAAA | T | intron_variant | MODIFIER | HG00408.hp1 HG02132.hp2 HG02135.hp1 others(16): Show |
a0001a0002a0010 | a0001c0001a0001c0004a0001c0012others(3): Show | a0001c0001t0002a0001c0004t0001a0001c0012t0002others(3): Show | a0001c0001t0002g0033a0001c0001t0002g0071a0001c0004t0001g0116others(16): Show | 19 | 152 | 0.1250 | -7 | c.64- others(22): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
KATNIP_chr16_27545144_27785344 | 27689898 | TTATTCTC | T | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03453.hp1 |
a0007 | a0007c0010 | a0007c0010t0002 | a0007c0010t0002g0112a0007c0010t0002g0113a0007c0010t0002g0114 | 3 | 152 | 0.0197 | -7 | c.940 others(24): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
KATNIP_chr16_27545144_27785344 | 27690356 | AGATAGAT | A | intron_variant | MODIFIER | HG01258.hp2 HG01358.hp2 HG01361.hp1 others(3): Show |
a0003a0018 | a0003c0003a0018c0025 | a0003c0003t0002a0018c0025t0003 | a0003c0003t0002g0094a0003c0003t0002g0121a0003c0003t0002g0123others(3): Show | 6 | 152 | 0.0395 | -7 | c.941 others(24): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
KATNIP_chr16_27545144_27785344 | 27704906 | CTTTTTTT | C | intron_variant | MODIFIER | HG02886.hp1 HG02896.hp1 HG02897.hp2 others(8): Show |
a0001a0007a0018 | a0001c0001a0001c0005a0007c0010others(1): Show | a0001c0001t0004a0001c0005t0001a0001c0005t0002others(2): Show | a0001c0001t0004g0005a0001c0005t0001g0144a0001c0005t0001g0145others(8): Show | 11 | 152 | 0.0724 | -7 | c.138 others(24): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14650032 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG01106.hp2 HG01167.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(5): Show | a0001c0001t0001g0086a0001c0001t0009g0115a0001c0001t0011g0118others(7): Show | 10 | 146 | 0.0685 | -7 | c.226 others(26): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14697151 | AAAAAAAG | A | intron_variant | MODIFIER | HG02257.hp2 HG02572.hp2 HG02717.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0018others(3): Show | a0001c0001t0001g0086a0001c0001t0002g0007a0001c0001t0002g0122others(9): Show | 12 | 146 | 0.0822 | -7 | c.226 others(26): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14727450 | CTTTTTTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG03654.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0002a0001c0001t0023a0001c0001t0031others(2): Show | a0001c0001t0002g0006a0001c0001t0002g0129a0001c0001t0002g0130others(4): Show | 7 | 146 | 0.0480 | -7 | c.226 others(28): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14798510 | CTCCACTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(123): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0008others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0052a0001c0001t0001g0067a0001c0001t0001g0075others(123): Show | 126 | 146 | 0.8630 | -7 | c.227 others(28): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 15050159 | GGAATAGA | G | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG03209.hp2 others(2): Show |
a0002a0003 | a0002c0002a0003c0005 | a0002c0002t0001a0002c0002t0029a0003c0005t0002 | a0002c0002t0001g0013a0002c0002t0001g0038a0002c0002t0001g0078others(2): Show | 5 | 146 | 0.0343 | -7 | c.727 others(24): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 4/14 | chr1 | TogoVar | ||||||
KBTBD11_chr8_1968677_2011936 | 1984279 | GTTTTTTT | G | intron_variant | MODIFIER | HG00544.hp2 HG01243.hp2 HG01361.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0139a0001c0001t0001g0154a0001c0001t0001g0226others(11): Show | 15 | 389 | 0.0386 | -7 | c.-90 others(28): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KBTBD12_chr3_127910232_127992666 | 127945164 | CTTTTTTT | C | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG00735.hp1 others(25): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0060a0001c0001t0001g0145others(23): Show | 28 | 402 | 0.0697 | -7 | c.149 others(28): Show |
KBTBD12 | ENSG00000187715.13 | transcript | ENST00000405109.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCMF1_chr2_84966161_85064472 | 84982389 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG01106.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0015a0001c0001t0025others(4): Show | a0001c0001t0003g0196a0001c0001t0003g0207a0001c0001t0003g0214others(7): Show | 10 | 274 | 0.0365 | -7 | c.16+ others(24): Show |
KCMF1 | ENSG00000176407.18 | transcript | ENST00000409785.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KCMF1_chr2_84966161_85064472 | 85027366 | CTTTTTTT | C | intron_variant | MODIFIER | HG00733.hp1 HG00738.hp1 HG01106.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0014others(9): Show | a0001c0001t0003g0234a0001c0001t0007g0002a0001c0001t0007g0003others(15): Show | 18 | 274 | 0.0657 | -7 | c.17- others(20): Show |
KCMF1 | ENSG00000176407.18 | transcript | ENST00000409785.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KCNA2_chr1_110588580_110611358 | 110589715 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(249): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(119): Show | a0001c0001t0001g0001a0001c0001t0001g0061a0001c0001t0002g0002others(120): Show | 252 | 438 | 0.5753 | -7 | c.*13 others(20): Show |
KCNA2 | ENSG00000177301.16 | transcript | ENST00000316361.10 | protein_coding | 3864 | chr1 | TogoVar | ||||||
KCNA5_chr12_5038879_5051788 | 5049286 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02258.hp1 others(3): Show |
a0001a0010 | a0001c0001a0010c0012 | a0001c0001t0001a0001c0001t0006a0010c0012t0001 | a0001c0001t0001g0000a0001c0001t0006g0000a0010c0012t0001g0000 | 6 | 452 | 0.0133 | -7 | c.*32 others(18): Show |
KCNA5 | ENSG00000130037.5 | transcript | ENST00000252321.5 | protein_coding | 2499 | chr12 | TogoVar | ||||||
KCNA7_chr19_49062397_49077699 | 49066361 | CTCTAGCT | C | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01261.hp1 HG01433.hp1 others(14): Show |
a0001a0002a0004 | a0001c0001a0001c0015a0002c0002others(1): Show | a0001c0001t0018a0001c0015t0029a0002c0002t0007others(2): Show | a0001c0001t0018g0022a0001c0015t0029g0052a0002c0002t0007g0007others(2): Show | 17 | 396 | 0.0429 | -7 | c.*36 others(18): Show |
KCNA7 | ENSG00000104848.2 | transcript | ENST00000221444.2 | protein_coding | 1035 | chr19 | TogoVar | ||||||
KCNA7_chr19_49062397_49077699 | 49072690 | CCCGGTGT | C | 5_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00733.hp1 others(49): Show |
a0003a0005a0010 | a0003c0003a0003c0010a0005c0005others(1): Show | a0003c0003t0004a0003c0003t0009a0003c0003t0019others(6): Show | a0003c0003t0004g0004a0003c0003t0004g0020a0003c0003t0009g0011others(8): Show | 52 | 396 | 0.1313 | -7 | c.-11 others(16): Show |
KCNA7 | ENSG00000104848.2 | transcript | ENST00000221444.2 | protein_coding | 1/2 | 106 | chr19 | TogoVar | |||||
KCNAB1_chr3_156115578_156543605 | 156158180 | AAATAAAT | A | intron_variant | MODIFIER | HG01106.hp2 HG01175.hp1 HG02723.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0062a0001c0001t0001g0121a0001c0002t0003g0083 | 3 | 124 | 0.0242 | -7 | c.275 others(26): Show |
KCNAB1 | ENSG00000169282.19 | transcript | ENST00000490337.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNAB1_chr3_156115578_156543605 | 156395544 | CAAAAAAA | C | intron_variant | MODIFIER | HG01069.hp2 HG01891.hp1 HG02145.hp1 others(7): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0053a0001c0001t0001g0069a0001c0001t0001g0071others(7): Show | 10 | 124 | 0.0807 | -7 | c.276 others(26): Show |
KCNAB1 | ENSG00000169282.19 | transcript | ENST00000490337.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNAB1_chr3_156115578_156543605 | 156439224 | ATTTTTTT | A | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02615.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0027a0001c0001t0004g0072a0001c0001t0004g0099others(2): Show | 5 | 124 | 0.0403 | -7 | c.320 others(26): Show |
KCNAB1 | ENSG00000169282.19 | transcript | ENST00000490337.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNAB1_chr3_156115578_156543605 | 156522827 | CTATTATG | C | intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01070.hp1 others(61): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0015others(61): Show | 64 | 124 | 0.5161 | -7 | c.961 others(22): Show |
KCNAB1 | ENSG00000169282.19 | transcript | ENST00000490337.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNAB1_chr3_156115578_156543605 | 156524746 | CAAAAAAA | C | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0065a0001c0001t0006g0045a0001c0001t0006g0100others(1): Show | 4 | 124 | 0.0323 | -7 | c.108 others(24): Show |
KCNAB1 | ENSG00000169282.19 | transcript | ENST00000490337.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNB1_chr20_49358877_49487668 | 49401283 | TTCTTTTC | T | intron_variant | MODIFIER | HG01256.hp1 NA18954.hp1 NA18959.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017a0001c0001t0025others(2): Show | a0001c0001t0003g0034a0001c0001t0003g0247a0001c0001t0017g0027others(3): Show | 6 | 278 | 0.0216 | -7 | c.568 others(26): Show |
KCNB1 | ENSG00000158445.10 | transcript | ENST00000371741.6 | protein_coding | 1/1 | chr20 | TogoVar | ||||||
KCNB2_chr8_72532225_72943349 | 72537353 | ACCGCCCT | A | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00558.hp2 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0006others(2): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0006others(3): Show | a0001c0001t0002g0065a0001c0001t0002g0066a0001c0001t0002g0067others(34): Show | 37 | 164 | 0.2256 | -7 | c.-60 others(16): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 1/3 | 30355 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
KCNB2_chr8_72532225_72943349 | 72821627 | CACACAAA | C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01243.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0003a0001c0001t0004g0043a0001c0001t0004g0049others(3): Show | 6 | 164 | 0.0366 | -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 | 72821629 | CACAAAAA | C | intron_variant | MODIFIER | HG01167.hp1 HG02486.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0004a0001c0004t0001 | a0001c0002t0004g0044a0001c0004t0001g0031a0001c0004t0001g0034others(1): Show | 4 | 164 | 0.0244 | -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 | 72830227 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00741.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0021a0001c0001t0001g0025others(27): Show | 30 | 164 | 0.1829 | -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 | 72839599 | CTTTTTTT | C | intron_variant | MODIFIER | HG00621.hp1 HG00673.hp2 HG01978.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0024others(20): Show | 23 | 164 | 0.1402 | -7 | c.580 others(26): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KCNB2_chr8_72532225_72943349 | 72842116 | ATTGAGAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(121): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(121): Show | 124 | 164 | 0.7561 | -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 | 75158905 | TATGCAAC | T | intron_variant | MODIFIER | HG02723.hp2 HG02976.hp2 HG03471.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0030 | a0001c0001t0001g0066a0001c0001t0001g0110a0001c0001t0007g0074others(2): Show | 5 | 316 | 0.0158 | -7 | c.687 others(26): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
KCNC2_chr12_75035078_75214839 | 75181916 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00738.hp1 HG01175.hp1 others(38): Show |
a0001 | a0001c0001a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(38): Show | 41 | 316 | 0.1298 | -7 | c.687 others(26): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
KCNC2_chr12_75035078_75214839 | 75191524 | ATTATTTT | A | intron_variant | MODIFIER | HG02145.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024a0001c0001t0039 | a0001c0001t0001g0086a0001c0001t0001g0093a0001c0001t0001g0099others(3): Show | 6 | 316 | 0.0190 | -7 | c.687 others(26): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
KCNC2_chr12_75035078_75214839 | 75191554 | TTTTTTTG | T | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG02717.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0088a0001c0001t0001g0100a0001c0001t0001g0101others(5): Show | 8 | 316 | 0.0253 | -7 | c.687 others(26): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
KCND1_chrX_48956380_48976844 | 48975798 | CAATGGAG | C | upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 306 | 0.0033 | -7 | c.-55 others(18): Show |
KCND1 | ENSG00000102057.10 | transcript | ENST00000218176.4 | protein_coding | 3955 | chrX | TogoVar | ||||||
KCND2_chr7_120268175_120755337 | 120701240 | TAAAAAAA | T | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02922.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0001g0024a0001c0001t0006g0068a0001c0001t0007g0038others(1): Show | 4 | 80 | 0.0500 | -7 | c.111 others(28): Show |
KCND2 | ENSG00000184408.10 | transcript | ENST00000331113.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KCND3_chr1_111765662_111994668 | 111868406 | CCAAAACA | C | intron_variant | MODIFIER | HG02572.hp2 HG03209.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0014a0001c0001t0033 | a0001c0001t0009g0168a0001c0001t0014g0101a0001c0001t0033g0114 | 3 | 226 | 0.0133 | -7 | c.110 others(28): Show |
KCND3 | ENSG00000171385.11 | transcript | ENST00000302127.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
KCNE2_chr21_34359006_34376381 | 34368260 | ATGTATGT | A | intron_variant | MODIFIER | HG01256.hp2 HG01975.hp1 HG02280.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0073others(7): Show | 12 | 434 | 0.0277 | -7 | c.-12 others(24): Show |
KCNE2 | ENSG00000159197.4 | transcript | ENST00000290310.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
KCNE3_chr11_74449841_74472549 | 74451258 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02622.hp1 HG02647.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009a0001c0001t0014others(3): Show | a0001c0001t0008g0010a0001c0001t0009g0081a0001c0001t0009g0257others(7): Show | 14 | 446 | 0.0314 | -7 | c.*59 others(18): Show |
KCNE3 | ENSG00000175538.11 | transcript | ENST00000310128.9 | protein_coding | 3582 | chr11 | TogoVar |