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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KANSL1_chr17_46024916_46198429 | 46144745 | T | TAGAATAG | intron_variant | MODIFIER | HG02486.hp2 HG02622.hp1 HG02630.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 a0001c0001t0001g0113 a0001c0001t0001g0116 others(2): Show |
5 | 320 | 0.0156 | 7 | c.128 others(28): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
KANSL3_chr2_96588172_96643312 | 96609950 | C | CAAAAAAA | intron_variant | MODIFIER | HG01884.hp2 HG03130.hp2 NA18962.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0169 a0001c0001t0001g0200 a0002c0002t0001g0130 others(3): Show |
6 | 46 | 0.1304 | 7 | c.132 others(24): Show |
KANSL3 | ENSG00000114982.19 | transcript | ENST00000431828.6 | protein_coding | 11/20 | chr2 | TogoVar | |||||||
KANTR_chrX_53089142_53132438 | 53097350 | G | GTTTTTTT | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG00673.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0026 others(33): Show |
52 | 139 | 0.3741 | 7 | c.-94 others(26): Show |
KANTR | ENSG00000232593.8 | transcript | ENST00000604062.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20061984 | C | CATAATAT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00642.hp2 others(31): Show |
a0001a0005a0006 | a0001c0002a0001c0004a0005c0014others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(5): Show | a0001c0002t0001g0197 a0001c0002t0001g0325 a0001c0002t0001g0338 others(31): Show |
34 | 296 | 0.1149 | 7 | c.304 others(26): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20062009 | T | TATAAAAC | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00642.hp2 others(27): Show |
a0001a0005a0006 | a0001c0002a0001c0004a0005c0014others(1): Show | a0001c0002t0002a0001c0004t0001a0001c0004t0004others(4): Show | a0001c0002t0002g0176 a0001c0002t0002g0179 a0001c0002t0002g0183 others(27): Show |
30 | 372 | 0.0806 | 7 | c.304 others(26): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20062151 | A | ACATATAT | intron_variant | MODIFIER | HG01934.hp1 HG02896.hp1 HG03098.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0005t0001a0002c0003t0003 | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0005t0001g0019 others(2): Show |
5 | 369 | 0.0136 | 7 | c.304 others(26): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 1/17 | chr3 | TogoVar | |||||||
KAT2B_chr3_20035446_20159404 | 20070309 | C | CTTTCTTT | intron_variant | MODIFIER | HG01255.hp1 HG01346.hp2 HG01433.hp2 others(11): Show |
a0001a0005a0006 | a0001c0004a0005c0014a0006c0010 | a0001c0004t0001a0001c0004t0003a0001c0004t0010others(2): Show | a0001c0004t0001g0094 a0001c0004t0001g0161 a0001c0004t0001g0162 others(11): Show |
14 | 368 | 0.0380 | 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 | 20092235 | A | ATTTATTT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(120): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(118): Show |
123 | 344 | 0.3576 | 7 | c.431 others(24): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT6A_chr8_41924479_42056987 | 41930729 | T | TATATATA | 3_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02723.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0016 | a0001c0001t0012a0001c0003t0009a0001c0016t0025 | a0001c0001t0012g0176 a0001c0003t0009g0146 a0001c0003t0009g0147 others(1): Show |
4 | 327 | 0.0122 | 7 | c.*14 others(18): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 17/17 | 1475 | chr8 | TogoVar | ||||||
KAT6A_chr8_41924479_42056987 | 42054252 | A | ATATATAT | upstream_gene_variant | MODIFIER | HG02071.hp1 HG02109.hp1 NA18957.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0088 a0001c0001t0001g0101 a0001c0001t0003g0156 |
3 | 233 | 0.0129 | 7 | c.-26 others(18): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 2266 | chr8 | TogoVar | |||||||
KAT6B_chr10_74821600_75037624 | 74830769 | T | TATATATA | intron_variant | MODIFIER | HG00544.hp1 HG01081.hp2 HG01109.hp2 others(13): Show |
a0001a0002a0005 | a0001c0001a0001c0016a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0016t0001others(2): Show | a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0194 others(13): Show |
16 | 186 | 0.0860 | 7 | c.-32 others(26): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 1/17 | chr10 | TogoVar | |||||||
KAT6B_chr10_74821600_75037624 | 74898997 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(45): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0036 others(45): Show |
48 | 114 | 0.4211 | 7 | c.621 others(26): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KAT6B_chr10_74821600_75037624 | 74942765 | C | CAAAAAAA | intron_variant | MODIFIER | HG02970.hp1 HG03471.hp2 NA18943.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0036 a0001c0001t0001g0059 a0001c0001t0001g0064 others(2): Show |
5 | 47 | 0.1064 | 7 | c.622 others(26): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KAT6B_chr10_74821600_75037624 | 74944808 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG01069.hp1 others(14): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0009 | a0001c0001t0001a0002c0002t0001a0007c0009t0011 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0036 others(14): Show |
17 | 68 | 0.2500 | 7 | c.622 others(26): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KATNBL1_chr15_34135674_34215096 | 34137036 | G | GAAAAAAA | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01109.hp2 HG01192.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0050 a0001c0001t0001g0122 a0001c0001t0001g0160 others(35): Show |
38 | 51 | 0.7451 | 7 | c.*53 others(18): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 3637 | chr15 | TogoVar | |||||||
KATNBL1_chr15_34135674_34215096 | 34172256 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(137): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(4): Show | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0030 others(137): Show |
140 | 178 | 0.7865 | 7 | c.-14 others(24): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
KATNBL1_chr15_34135674_34215096 | 34193851 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0042 others(71): Show |
74 | 84 | 0.8810 | 7 | c.-15 others(26): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
KATNIP_chr16_27545144_27785344 | 27613104 | C | CAAAAAAA | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG02486.hp1 others(6): Show |
a0004a0007a0014 | a0004c0007a0007c0016a0007c0030others(1): Show | a0004c0007t0001a0004c0007t0010a0004c0007t0012others(3): Show | a0004c0007t0001g0074 a0004c0007t0001g0075 a0004c0007t0001g0105 others(6): Show |
9 | 146 | 0.0616 | 7 | c.64- others(22): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14622689 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01099.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0019others(2): Show | a0001c0001t0002g0006 a0001c0001t0002g0122 a0001c0001t0003g0005 others(7): Show |
10 | 91 | 0.1099 | 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 | 14695510 | C | CTTTTTTT | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02559.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0052 a0001c0001t0002g0042 a0001c0001t0004g0044 others(6): Show |
9 | 72 | 0.1250 | 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 | 14858209 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG01099.hp2 HG01167.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0013a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0068 a0001c0001t0002g0006 a0001c0001t0002g0035 others(14): Show |
17 | 96 | 0.1771 | 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 | 14956299 | G | GAAAAAAA | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02257.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0019others(2): Show | a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0137 others(4): Show |
7 | 82 | 0.0854 | 7 | c.227 others(24): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
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 a0001c0001t0003g0138 a0001c0001t0009g0115 others(3): Show |
6 | 67 | 0.0896 | 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 | 67 | 0.3284 | 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 | 26 | 0.3077 | 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(28): Show |
a0002a0003 | a0002c0004a0003c0002a0003c0006 | a0002c0004t0010a0003c0002t0002a0003c0002t0006others(1): Show | a0002c0004t0010g0257 a0003c0002t0002g0017 a0003c0002t0002g0018 others(25): Show |
31 | 103 | 0.3010 | 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(93): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002others(1): Show | a0001c0001t0007a0001c0001t0017a0002c0003t0002others(9): Show | a0001c0001t0007g0013 a0001c0001t0007g0141 a0001c0001t0007g0176 others(81): Show |
96 | 400 | 0.2400 | 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(93): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002others(1): Show | a0001c0001t0007a0001c0001t0017a0002c0003t0002others(9): Show | a0001c0001t0007g0013 a0001c0001t0007g0141 a0001c0001t0007g0176 others(81): Show |
96 | 400 | 0.2400 | 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 | a0001c0001t0003a0001c0001t0004a0001c0001t0055others(1): Show | a0001c0001t0003g0202 a0001c0001t0003g0217 a0001c0001t0003g0223 others(3): Show |
6 | 242 | 0.0248 | 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 | a0001c0001t0007a0001c0001t0014a0001c0001t0031others(10): Show | a0001c0001t0007g0003 a0001c0001t0007g0004 a0001c0001t0007g0005 others(15): Show |
18 | 265 | 0.0679 | 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 | ||||||
KCNAB3_chr17_7916859_7934856 | 7921124 | T | TATGGCAA | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp1 others(122): Show |
a0001a0006 | a0001c0001a0001c0008a0006c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(29): Show |
125 | 426 | 0.2934 | 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 | a0001c0001a0001c0002a0005c0008 | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(8): Show | a0001c0001t0002g0021 a0001c0001t0004g0197 a0001c0001t0011g0056 others(10): Show |
13 | 147 | 0.0884 | 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 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0018others(4): Show | a0001c0001t0002g0032 a0001c0001t0006g0041 a0001c0001t0006g0073 others(5): Show |
8 | 131 | 0.0611 | 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 | a0001c0001t0005a0001c0001t0006a0001c0001t0081others(3): Show | a0001c0001t0005g0023 a0001c0001t0005g0238 a0001c0001t0005g0246 others(5): Show |
8 | 113 | 0.0708 | 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 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0257 others(10): Show |
13 | 137 | 0.0949 | 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 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0115 others(10): Show |
13 | 33 | 0.3939 | 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 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0029 a0001c0001t0001g0112 a0001c0001t0001g0116 others(6): Show |
9 | 60 | 0.1500 | 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 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(6): Show | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0061 others(14): Show |
17 | 56 | 0.3036 | 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 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0001g0041 a0001c0001t0001g0140 a0001c0001t0001g0149 others(18): Show |
21 | 96 | 0.2188 | 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 | a0001c0001t0001a0001c0001t0005a0001c0001t0020others(3): Show | a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0137 others(18): Show |
21 | 281 | 0.0747 | 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 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0164 a0001c0001t0001g0185 a0002c0005t0001g0135 |
3 | 214 | 0.0140 | 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 |
a0001a0002 | a0001c0001a0001c0007a0002c0005 | a0001c0001t0001a0001c0007t0001a0002c0005t0001 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0077 others(17): Show |
20 | 78 | 0.2564 | 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 |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0002g0007 a0001c0001t0002g0014 a0001c0001t0002g0053 others(19): Show |
25 | 179 | 0.1397 | 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 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013 | a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0042 others(6): Show |
9 | 40 | 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 | 120508891 | A | ATTTTTTT | intron_variant | MODIFIER | HG01496.hp1 HG01891.hp1 HG01981.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0041 others(15): Show |
18 | 36 | 0.5000 | 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 | a0001c0002 | a0001c0002t0001a0001c0002t0008 | a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0008g0062 |
3 | 78 | 0.0385 | 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 | 23 | 0.0870 | 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 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0002a0002c0004t0001 | a0002c0002t0001g0001 a0002c0002t0001g0031 a0002c0002t0001g0037 others(59): Show |
63 | 222 | 0.2838 | 7 | c.624 others(24): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |