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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNF1_chr2_10906934_10919225 | 10907437 | C | CCCATCAC others(12): Show |
upstream_gene_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 1 | 434 | 0.0023 | 19 | c.-49 others(30): Show |
KCNF1 | ENSG00000162975.5 | transcript | ENST00000295082.3 | protein_coding | 4496 | chr2 | TogoVar | |||||||
KCNG3_chr2_42437017_42498982 | 42452243 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 | 1 | 144 | 0.0069 | 19 | c.666 others(36): Show |
KCNG3 | ENSG00000171126.8 | transcript | ENST00000306078.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
KCNG3_chr2_42437017_42498982 | 42452243 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01255.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0207 a0001c0001t0003g0251 |
2 | 145 | 0.0138 | 19 | c.666 others(36): Show |
KCNG3 | ENSG00000171126.8 | transcript | ENST00000306078.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210806836 | A | AAATATAT others(12): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0051 | 1 | 25 | 0.0400 | 19 | c.146 others(38): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210806836 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0091 | 1 | 25 | 0.0400 | 19 | c.146 others(38): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
KCNH5_chr14_62694464_63050458 | 62709232 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0047 | 1 | 11 | 0.0909 | 19 | c.202 others(36): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 10/10 | chr14 | TogoVar | |||||||
KCNH6_chr17_63518358_63551727 | 63533073 | G | GGCCTGGC others(12): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 322 | 0.0031 | 19 | c.676 others(34): Show |
KCNH6 | ENSG00000173826.15 | transcript | ENST00000314672.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KCNIP1_chr5_170499020_170741632 | 170568648 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0005 | 1 | 26 | 0.0385 | 19 | c.61+ others(36): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 20988000 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02572.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0014 a0001c0002t0004g0028 |
2 | 30 | 0.0667 | 19 | c.62- others(38): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21320964 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0023 | 1 | 29 | 0.0345 | 19 | c.62- others(38): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21388091 | A | AGAAAGAT others(12): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01433.hp1 HG01517.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0017 others(39): Show |
42 | 79 | 0.5316 | 19 | c.62- others(38): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21508729 | T | TGCATAAT others(12): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02647.hp2 HG02886.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0024 a0001c0001t0001g0070 a0001c0001t0002g0021 others(8): Show |
11 | 80 | 0.1375 | 19 | c.61+ others(38): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21556920 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0062 | 1 | 69 | 0.0145 | 19 | c.61+ others(38): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21556930 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 64 | 0.0156 | 19 | c.61+ others(38): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21556930 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01517.hp1 HG02145.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0064 others(7): Show |
10 | 73 | 0.1370 | 19 | c.61+ others(38): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21569234 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040 | 1 | 2 | 0.5000 | 19 | c.61+ others(38): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21758747 | G | GCTTTGTT others(12): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01106.hp2 HG01123.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 others(22): Show |
25 | 80 | 0.3125 | 19 | c.61+ others(38): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNJ10_chr1_160032467_160075160 | 160067949 | A | AGGTCAAG others(12): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 406 | 0.0025 | 19 | c.-1+ others(34): Show |
KCNJ10 | ENSG00000177807.10 | transcript | ENST00000644903.1 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
KCNJ14_chr19_48450574_48471980 | 48461550 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01169.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0075 a0001c0001t0006g0047 |
2 | 332 | 0.0060 | 19 | c.-55 others(34): Show |
KCNJ14 | ENSG00000182324.7 | transcript | ENST00000342291.3 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
KCNJ16_chr17_70070225_70140608 | 70103324 | A | ATACACAC others(12): Show |
intron_variant | MODIFIER | HG00423.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 a0001c0001t0002g0212 |
2 | 55 | 0.0364 | 19 | c.-19 others(38): Show |
KCNJ16 | ENSG00000153822.15 | transcript | ENST00000392671.6 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
KCNJ2_chr17_70164532_70185044 | 70183749 | C | CATTCTCT others(12): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 383 | 0.0026 | 19 | c.*74 others(30): Show |
KCNJ2 | ENSG00000123700.5 | transcript | ENST00000243457.4 | protein_coding | 3706 | chr17 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37615244 | C | CTTTTTTT others(12): Show |
3_prime_UTR_variant | MODIFIER | HG01257.hp2 HG02895.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0171a0002c0005t0167 | a0001c0001t0171g0015 a0002c0005t0167g0136 |
2 | 70 | 0.0286 | 19 | c.*98 others(30): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 9914 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37661614 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0165 | 1 | 40 | 0.0250 | 19 | c.947 others(38): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37863846 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0142 | 1 | 121 | 0.0083 | 19 | c.-27 others(38): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88220416 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0072 | 1 | 56 | 0.0179 | 19 | c.681 others(36): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 4/6 | chr14 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88274549 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 48 | 0.0208 | 19 | c.53- others(36): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88274566 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0294 a0001c0001t0021g0209 |
2 | 301 | 0.0066 | 19 | c.53- others(36): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
KCNK12_chr2_47504290_47575985 | 47535456 | G | GGGCGCAC others(12): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0055 | 1 | 386 | 0.0026 | 19 | c.392 others(38): Show |
KCNK12 | ENSG00000184261.5 | transcript | ENST00000327876.5 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
KCNK13_chr14_90056994_90190853 | 90101790 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0191 | 1 | 62 | 0.0161 | 19 | c.334 others(38): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KCNK13_chr14_90056994_90190853 | 90143176 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01261.hp2 HG01934.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0004t0003others(1): Show | a0001c0001t0002g0138 a0001c0001t0003g0037 a0001c0001t0003g0128 others(3): Show |
6 | 232 | 0.0259 | 19 | c.335 others(38): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KCNK13_chr14_90056994_90190853 | 90179713 | T | TTACGTAT others(12): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0080 | 1 | 318 | 0.0031 | 19 | c.335 others(36): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KCNK18_chr10_117192489_117215299 | 117192734 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 238 | 0.0042 | 19 | c.-47 others(30): Show |
KCNK18 | ENSG00000186795.1 | transcript | ENST00000334549.1 | protein_coding | 4754 | chr10 | TogoVar | |||||||
KCNK2_chr1_215077737_215242090 | 215209463 | T | TATAATAT others(12): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0094 | 1 | 251 | 0.0040 | 19 | c.963 others(38): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215230526 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0023 | 1 | 258 | 0.0039 | 19 | c.964 others(36): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215230528 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0098 | 1 | 231 | 0.0043 | 19 | c.964 others(36): 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(12): Show |
3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG01358.hp1 HG01978.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0015a0001c0001t0048others(2): Show | a0001c0001t0005g0118 a0001c0001t0005g0160 a0001c0001t0005g0162 others(15): Show |
18 | 100 | 0.1800 | 19 | c.*91 others(28): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 7/7 | 912 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCNK3_chr2_26687722_26738420 | 26690408 | T | TTTTCCCT others(12): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 HG02572.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0008 | a0001c0001t0001g0007 a0001c0001t0001g0180 a0001c0001t0005g0181 others(1): Show |
6 | 334 | 0.0180 | 19 | c.-24 others(30): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 2313 | chr2 | TogoVar | |||||||
KCNMB1_chr5_170369671_170394367 | 170390517 | A | AAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0090 | 1 | 222 | 0.0045 | 19 | c.-12 others(30): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758972 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 228 | 0.0044 | 19 | c.-67 others(38): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759344 | G | GGATATAT others(12): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0195 | 1 | 102 | 0.0098 | 19 | c.-67 others(38): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759402 | G | GGATATAT others(12): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0126 | 1 | 184 | 0.0054 | 19 | c.-67 others(38): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759434 | G | GGATATAT others(12): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0072 | 1 | 81 | 0.0123 | 19 | c.-67 others(38): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154844138 | A | ACCCTCAC others(12): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 236 | 0.0042 | 19 | c.934 others(38): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
KCNQ1_chr11_2440008_2854105 | 2610716 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0019 | 1 | 52 | 0.0192 | 19 | c.139 others(40): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63432797 | A | AGGATCCA others(12): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0139 | 1 | 328 | 0.0030 | 19 | c.111 others(38): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 8/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63445707 | A | ACCCTGTC others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(63): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0008a0001c0009others(4): Show | a0001c0003t0003a0001c0003t0009a0001c0003t0012others(23): Show | a0001c0003t0003g0263 a0001c0003t0003g0264 a0001c0003t0003g0272 others(63): Show |
66 | 328 | 0.2012 | 19 | c.388 others(34): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 2/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63445726 | G | GCCCTGTC others(12): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(91): Show |
a0001a0002a0006 | a0001c0002a0001c0004a0001c0005others(8): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0020others(35): Show | a0001c0002t0001g0004 a0001c0002t0001g0049 a0001c0002t0001g0084 others(87): Show |
94 | 318 | 0.2956 | 19 | c.388 others(34): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 2/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63445736 | A | AGCTGGGA others(12): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03927.hp2 |
a0001 | a0001c0008a0001c0028 | a0001c0008t0005a0001c0028t0035 | a0001c0008t0005g0050 a0001c0028t0035g0026 |
2 | 328 | 0.0061 | 19 | c.388 others(34): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 2/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63445802 | G | GCCCTGAC others(12): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0001 | a0002c0001t0067 | a0002c0001t0067g0218 | 1 | 297 | 0.0034 | 19 | c.388 others(34): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 2/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63445821 | A | ACCCTGTC others(12): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(174): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0005others(14): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(67): Show | a0001c0002t0001g0004 a0001c0002t0001g0023 a0001c0002t0001g0024 others(170): Show |
177 | 295 | 0.6000 | 19 | c.388 others(34): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 2/16 | chr20 | TogoVar |