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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNK2_chr1_215077737_215242090 | 215230530 | T | TATACACA others(8): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0109 | 1 | 260 | 0.0039 | 15 | c.964 others(32): 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(8): Show |
3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00597.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0012a0001c0001t0032others(6): Show | a0001c0001t0002g0095 a0001c0001t0002g0115 a0001c0001t0002g0118 others(31): Show |
34 | 260 | 0.1308 | 15 | c.*91 others(24): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 7/7 | 912 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCNK2_chr1_215077737_215242090 | 215238848 | T | TAAATAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG01081.hp1 HG02280.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(6): Show | a0001c0001t0001g0252 a0001c0001t0002g0197 a0001c0001t0017g0021 others(9): Show |
12 | 260 | 0.0462 | 15 | c.*37 others(26): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 1759 | chr1 | TogoVar | |||||||
KCNK3_chr2_26687722_26738420 | 26699250 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0067 | 1 | 336 | 0.0030 | 15 | c.283 others(32): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNK3_chr2_26687722_26738420 | 26705533 | A | ACCTTAAC others(8): Show |
intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0053 | 1 | 336 | 0.0030 | 15 | c.283 others(34): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNK3_chr2_26687722_26738420 | 26734712 | T | TTTATTAT others(8): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00597.hp2 others(61): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0052 others(55): Show |
64 | 336 | 0.1905 | 15 | c.*61 others(26): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1293 | chr2 | TogoVar | |||||||
KCNK3_chr2_26687722_26738420 | 26734712 | T | TTTATTAT others(8): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 336 | 0.0030 | 15 | c.*61 others(26): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1293 | chr2 | TogoVar | |||||||
KCNK9_chr8_139612121_139708123 | 139663666 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 322 | 0.0031 | 15 | c.283 others(34): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 76941116 | G | GAGGGAAG others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02717.hp2 HG02922.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0009 | a0001c0001t0003a0001c0001t0006a0001c0002t0003others(1): Show | a0001c0001t0003g0090 a0001c0001t0006g0061 a0001c0002t0003g0067 others(1): Show |
4 | 106 | 0.0377 | 15 | c.290 others(34): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 23/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77123129 | G | GAGATCGC others(8): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0021 | 1 | 106 | 0.0094 | 15 | c.809 others(32): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 5/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77387527 | G | GTTCTTTT others(8): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02970.hp1 HG03225.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0001g0066 a0001c0001t0006g0061 a0001c0001t0007g0025 others(2): Show |
5 | 106 | 0.0472 | 15 | c.540 others(34): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 2/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77387607 | C | CTTTCTTT others(8): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02572.hp1 NA19043.hp1 |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0001a0001c0001t0003a0004c0010t0003 | a0001c0001t0001g0058 a0001c0001t0003g0030 a0004c0010t0003g0095 |
3 | 106 | 0.0283 | 15 | c.540 others(34): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 2/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77439087 | A | AAAGAGAA others(8): Show |
intron_variant | MODIFIER | HG02615.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0060 a0001c0001t0007g0087 |
2 | 106 | 0.0189 | 15 | c.379 others(34): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77439149 | A | AGAGAAGA others(8): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0057 | 1 | 106 | 0.0094 | 15 | c.379 others(34): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758873 | G | GGATATAT others(8): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0088 | 1 | 232 | 0.0043 | 15 | c.-67 others(34): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758980 | T | TATATCTC others(8): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01069.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0015 others(17): Show |
20 | 232 | 0.0862 | 15 | c.-67 others(34): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759050 | T | TATATCTC others(8): Show |
intron_variant | MODIFIER | HG01255.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 a0001c0001t0002g0118 |
2 | 232 | 0.0086 | 15 | c.-67 others(34): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759056 | T | TATATCTC others(8): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 HG06807.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0168 a0001c0001t0002g0178 a0001c0002t0001g0102 |
3 | 232 | 0.0129 | 15 | c.-67 others(34): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759058 | T | TATCTCTC others(8): Show |
intron_variant | MODIFIER | NA18941.hp1 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0076 a0001c0001t0003g0155 |
2 | 232 | 0.0086 | 15 | c.-67 others(34): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759434 | G | GGATATAT others(8): Show |
intron_variant | MODIFIER | HG01069.hp2 HG03017.hp2 NA19003.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0122 a0001c0001t0003g0177 a0001c0002t0001g0121 |
3 | 232 | 0.0129 | 15 | c.-67 others(34): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759877 | T | TCTCTCTC others(8): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0163 | 1 | 232 | 0.0043 | 15 | c.-67 others(34): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178760063 | T | TCTCTCTC others(8): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00735.hp2 HG01069.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0003g0058 a0001c0001t0003g0122 a0001c0001t0003g0126 others(19): Show |
22 | 232 | 0.0948 | 15 | c.-67 others(34): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154692478 | A | ATATATTT others(8): Show |
downstream_gene_variant | MODIFIER | HG02897.hp2 | a0002 | a0002c0002 | a0002c0002t0029 | a0002c0002t0029g0129 | 1 | 238 | 0.0042 | 15 | c.*15 others(28): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 4976 | chr1 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154714612 | G | GTGTGTGT others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0005 | a0005c0011 | a0005c0011t0071 | a0005c0011t0071g0200 | 1 | 238 | 0.0042 | 15 | c.182 others(32): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154869723 | G | GGCTGCTG others(8): Show |
conservative_inframe_insertion | MODERATE | HG00140.hp1 HG00280.hp2 HG00621.hp2 others(67): Show |
a0001a0013 | a0001c0001a0001c0004a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(45): Show | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 others(67): Show |
70 | 238 | 0.2941 | 15 | c.227 others(22): Show |
p.Gln others(11): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 1/8 | 558/13034 | 241/2196 | 81/731 | chr1 | TogoVar | |||
KCNQ1_chr11_2440008_2854105 | 2496495 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02809.hp1 HG02818.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0046 others(6): Show |
9 | 208 | 0.0433 | 15 | c.387 others(34): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNQ1_chr11_2440008_2854105 | 2733857 | C | CTCGCTCT others(8): Show |
intron_variant | MODIFIER | NA19240.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0146 |
2 | 208 | 0.0096 | 15 | c.151 others(36): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 11/15 | chr11 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63442692 | T | TCACCACC others(8): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02886.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0023a0001c0002t0087 | a0001c0002t0023g0026 a0001c0002t0023g0103 a0001c0002t0023g0105 others(2): Show |
5 | 330 | 0.0152 | 15 | c.691 others(30): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63442899 | T | TCACCACC others(8): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(63): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0008others(5): Show | a0001c0002t0025a0001c0003t0003a0001c0003t0010others(25): Show | a0001c0002t0025g0211 a0001c0003t0003g0265 a0001c0003t0003g0266 others(63): Show |
66 | 330 | 0.2000 | 15 | c.691 others(30): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63447595 | G | GTTTGTTT others(8): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02683.hp2 HG02698.hp2 others(11): Show |
a0001 | a0001c0004a0001c0007a0001c0014others(1): Show | a0001c0004t0004a0001c0007t0007a0001c0007t0044others(3): Show | a0001c0004t0004g0094 a0001c0007t0007g0227 a0001c0007t0007g0228 others(11): Show |
14 | 330 | 0.0424 | 15 | c.297 others(30): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63451240 | G | GGCCTCTG others(8): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0005 | a0001c0005t0011 | a0001c0005t0011g0155 | 1 | 330 | 0.0030 | 15 | c.297 others(32): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132154193 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01934.hp1 HG01975.hp2 others(3): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0025a0001c0001t0065others(3): Show | a0001c0001t0001g0018 a0001c0001t0025g0100 a0001c0001t0065g0054 others(3): Show |
6 | 176 | 0.0341 | 15 | c.126 others(34): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 9/14 | chr8 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132357007 | T | TAACAACA others(8): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0052 | a0001c0001t0004g0061 a0001c0001t0052g0049 |
2 | 176 | 0.0114 | 15 | c.386 others(36): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132392790 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0036 | a0001c0001t0020g0051 a0001c0001t0036g0032 |
2 | 176 | 0.0114 | 15 | c.386 others(34): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132403016 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0041 | 1 | 176 | 0.0057 | 15 | c.386 others(34): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132403016 | C | CAAAAACA others(8): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0058 | 1 | 176 | 0.0057 | 15 | c.386 others(34): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ5_chr6_72617064_73203853 | 73025623 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0052 | 1 | 80 | 0.0125 | 15 | c.490 others(34): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 73046611 | C | CTATTTTA others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01099.hp2 HG02055.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0002g0036 a0001c0001t0003g0011 a0001c0001t0003g0015 others(24): Show |
27 | 80 | 0.3375 | 15 | c.616 others(32): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 73050246 | A | AGAAGGAG others(8): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0043 | 1 | 80 | 0.0125 | 15 | c.616 others(32): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 73193464 | A | AAAAATAA others(8): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02083.hp2 HG02109.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0004a0001c0001t0008a0001c0001t0011others(3): Show | a0001c0001t0004g0048 a0001c0001t0008g0018 a0001c0001t0008g0032 others(5): Show |
8 | 80 | 0.1000 | 15 | c.183 others(32): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNRG_chr13_50010444_50025922 | 50014334 | A | ATATATAT others(8): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 448 | 0.0022 | 15 | c.-11 others(26): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 1109 | chr13 | TogoVar | |||||||
KCNRG_chr13_50010444_50025922 | 50014336 | A | ATATATAT others(8): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 448 | 0.0022 | 15 | c.-11 others(26): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 1107 | chr13 | TogoVar | |||||||
KCNRG_chr13_50010444_50025922 | 50014344 | A | AAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 448 | 0.0022 | 15 | c.-11 others(26): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 1099 | chr13 | TogoVar | |||||||
KCNRG_chr13_50010444_50025922 | 50014344 | A | AAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 448 | 0.0022 | 15 | c.-11 others(26): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 1099 | chr13 | TogoVar | |||||||
KCNRG_chr13_50010444_50025922 | 50014344 | A | AAAAAAAT others(8): Show |
upstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 448 | 0.0022 | 15 | c.-11 others(26): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 1099 | chr13 | TogoVar | |||||||
KCNS3_chr2_17873667_17937958 | 17884304 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0194 | 1 | 384 | 0.0026 | 15 | c.-25 others(34): Show |
KCNS3 | ENSG00000170745.12 | transcript | ENST00000304101.9 | protein_coding | 1/2 | chr2 | TogoVar | |||||||
KCNT1_chr9_135697185_135800502 | 135699899 | G | GCCCAGGC others(8): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG01257.hp1 HG01258.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0002t0001others(3): Show | a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0165 others(15): Show |
18 | 272 | 0.0662 | 15 | c.-23 others(26): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2285 | chr9 | TogoVar | |||||||
KCNT1_chr9_135697185_135800502 | 135733641 | C | CACACTCT others(8): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 272 | 0.0037 | 15 | c.255 others(34): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | chr9 | TogoVar | |||||||
KCNT1_chr9_135697185_135800502 | 135768240 | C | CGGGGGGG others(8): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196 | 1 | 272 | 0.0037 | 15 | c.133 others(32): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 13/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196284230 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 136 | 0.0074 | 15 | c.269 others(34): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | TogoVar |