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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNK2_chr1_215077737_215242090 | 215223241 | T | TAAAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG03654.hp2 HG04228.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0001t0019a0001c0001t0065others(3): Show | a0001c0001t0008g0185a0001c0001t0019g0184a0001c0001t0019g0187others(11): Show | 14 | 260 | 0.0539 | 7 | c.964 others(26): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCNK2_chr1_215077737_215242090 | 215236049 | T | TATCTATC | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG01099.hp2 HG01261.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0031a0001c0001t0039others(3): Show | a0001c0001t0006g0154a0001c0001t0006g0165a0001c0001t0006g0188others(13): Show | 16 | 260 | 0.0615 | 7 | c.*90 others(16): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 7/7 | 912 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
KCNK5_chr6_39183971_39234475 | 39217118 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01109.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0113a0001c0001t0001g0132others(33): Show | 38 | 424 | 0.0896 | 7 | c.186 others(26): Show |
KCNK5 | ENSG00000164626.9 | transcript | ENST00000359534.4 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
KCNK6_chr19_38314845_38337076 | 38318193 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01109.hp1 others(21): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0006a0002c0002t0007a0002c0002t0008others(9): Show | a0002c0002t0006g0002a0002c0002t0007g0002a0002c0002t0008g0002others(9): Show | 24 | 398 | 0.0603 | 7 | c.-17 others(18): Show |
KCNK6 | ENSG00000099337.5 | transcript | ENST00000263372.5 | protein_coding | 1651 | chr19 | TogoVar | ||||||
KCNK6_chr19_38314845_38337076 | 38333285 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00733.hp2 HG02027.hp2 HG02055.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0004a0001c0001t0012a0001c0005t0070others(6): Show | a0001c0001t0004g0006a0001c0001t0012g0013a0001c0005t0070g0014others(6): Show | 15 | 398 | 0.0377 | 7 | c.*58 others(18): Show |
KCNK6 | ENSG00000099337.5 | transcript | ENST00000263372.5 | protein_coding | 1210 | chr19 | TogoVar | ||||||
KCNMA1_chr10_76879882_77642808 | 77134997 | C | CAAAAAAA | intron_variant | MODIFIER | HG01099.hp1 HG01258.hp1 HG02129.hp2 others(12): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0002g0042a0001c0001t0003g0029a0001c0001t0003g0054others(12): Show | 15 | 106 | 0.1415 | 7 | c.809 others(26): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 5/27 | chr10 | TogoVar | ||||||
KCNMA1_chr10_76879882_77642808 | 77243194 | T | TCCACACA | intron_variant | MODIFIER | HG01081.hp1 HG01167.hp2 HG01168.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0028others(28): Show | 31 | 106 | 0.2925 | 7 | c.602 others(24): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 3/27 | chr10 | TogoVar | ||||||
KCNMA1_chr10_76879882_77642808 | 77295787 | C | CAAAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG02630.hp2 HG02970.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0053a0001c0001t0001g0066a0001c0001t0003g0039others(4): Show | 7 | 106 | 0.0660 | 7 | c.541 others(26): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 2/27 | chr10 | TogoVar | ||||||
KCNMA1_chr10_76879882_77642808 | 77570593 | A | AGGGGGAG | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG01071.hp1 others(74): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0011a0001c0001t0001g0022a0001c0001t0001g0027others(74): Show | 77 | 106 | 0.7264 | 7 | c.378 others(26): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | ||||||
KCNMA1_chr10_76879882_77642808 | 77591977 | C | CACTAATG | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02559.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(3): Show | a0001c0001t0001g0031a0001c0001t0001g0038a0001c0001t0001g0043others(7): Show | 10 | 106 | 0.0943 | 7 | c.378 others(26): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178655095 | C | CTCTCTCT | intron_variant | MODIFIER | HG00642.hp1 NA19077.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011a0001c0002t0001g0059 | 2 | 232 | 0.0086 | 7 | c.-68 others(28): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178691107 | C | CTTTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00735.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0161a0001c0001t0002g0022a0001c0001t0002g0040others(29): Show | 32 | 232 | 0.1379 | 7 | c.-67 others(28): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178757699 | T | TTATATCC | intron_variant | MODIFIER | HG00280.hp2 HG02129.hp1 NA18941.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0149a0001c0001t0003g0155a0001c0001t0003g0174others(1): Show | 4 | 232 | 0.0172 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178757727 | T | TTATATCC | intron_variant | MODIFIER | HG01496.hp1 HG02165.hp2 NA18953.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0041a0001c0001t0003g0067a0001c0001t0003g0135others(3): Show | 6 | 232 | 0.0259 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178757823 | A | ATATATCC | intron_variant | MODIFIER | HG02109.hp1 HG03209.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0217a0001c0002t0001g0226 | 2 | 232 | 0.0086 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758814 | G | GAGATATA | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 HG02257.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0034a0001c0001t0002g0168a0001c0001t0002g0178others(1): Show | 4 | 232 | 0.0172 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758843 | G | GAGATATA | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG02165.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0010a0001c0001t0002g0034a0001c0001t0002g0040others(10): Show | 13 | 232 | 0.0560 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758843 | G | GATATATA | intron_variant | MODIFIER | HG00639.hp2 HG02818.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0006 | a0001c0001t0002g0089a0001c0001t0002g0164a0001c0001t0002g0223others(2): Show | 5 | 232 | 0.0216 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758872 | G | GAGATATA | intron_variant | MODIFIER | HG02257.hp2 HG02647.hp1 HG02896.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0004a0001c0001t0002g0010a0001c0001t0002g0096others(4): Show | 7 | 232 | 0.0302 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758872 | G | GATATATA | intron_variant | MODIFIER | HG02630.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209a0001c0001t0002g0220 | 2 | 232 | 0.0086 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758891 | T | TATATCTC | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0040a0001c0001t0002g0091a0001c0001t0002g0092others(3): Show | 6 | 232 | 0.0259 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758901 | G | GAGATATA | intron_variant | MODIFIER | HG02622.hp2 HG02922.hp2 HG02965.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0100a0001c0001t0003g0106a0001c0001t0003g0107others(5): Show | 8 | 232 | 0.0345 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758901 | G | GATATATA | intron_variant | MODIFIER | HG02145.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164a0001c0001t0002g0224 | 2 | 232 | 0.0086 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758920 | T | TATATCTC | intron_variant | MODIFIER | HG01261.hp2 HG02165.hp2 NA18939.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0139a0001c0001t0003g0167a0001c0001t0003g0212others(5): Show | 8 | 232 | 0.0345 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758930 | G | GAGATATA | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02717.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040a0001c0001t0002g0091a0001c0001t0002g0092others(1): Show | 4 | 232 | 0.0172 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758931 | G | GGATATAT | intron_variant | MODIFIER | HG02109.hp1 HG02717.hp1 HG03209.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0002t0001a0001c0002t0006others(1): Show | a0001c0001t0003g0088a0001c0002t0001g0079a0001c0002t0001g0217others(3): Show | 6 | 232 | 0.0259 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759089 | G | GGATATAT | intron_variant | MODIFIER | HG01069.hp2 HG01515.hp1 HG03017.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0122a0001c0001t0003g0127a0001c0001t0003g0130others(3): Show | 6 | 232 | 0.0259 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759114 | G | GGATATAT | intron_variant | MODIFIER | HG01069.hp2 HG01515.hp1 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0122a0001c0001t0003g0130a0001c0001t0003g0177 | 3 | 232 | 0.0129 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759232 | G | GGATATAT | intron_variant | MODIFIER | HG02280.hp1 HG02809.hp2 NA18979.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0008 | a0001c0001t0002g0076a0001c0001t0002g0221a0001c0002t0008g0018 | 3 | 232 | 0.0129 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759260 | A | AGGGATAT | intron_variant | MODIFIER | HG02622.hp2 HG06807.hp2 NA18941.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081a0001c0001t0003g0155a0001c0001t0003g0173others(1): Show | 4 | 232 | 0.0172 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759292 | G | GGATATAT | intron_variant | MODIFIER | HG00280.hp2 HG01261.hp2 HG01952.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0004a0001c0001t0002g0096a0001c0001t0002g0149others(12): Show | 15 | 232 | 0.0647 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759316 | G | GGATATAT | intron_variant | MODIFIER | HG00639.hp1 HG02027.hp2 HG03688.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0062a0001c0001t0003g0023a0001c0001t0003g0028others(1): Show | 4 | 232 | 0.0172 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759344 | G | GGATATAT | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0040a0001c0001t0002g0091a0001c0001t0002g0092others(3): Show | 6 | 232 | 0.0259 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759372 | G | GGATATAT | intron_variant | MODIFIER | HG01192.hp1 HG01261.hp2 HG01358.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0040a0001c0001t0002g0091a0001c0001t0002g0092others(17): Show | 20 | 232 | 0.0862 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759402 | G | GGATATAT | intron_variant | MODIFIER | HG00280.hp2 HG01261.hp2 NA18943.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0149a0001c0001t0003g0212a0001c0001t0004g0074others(1): Show | 4 | 232 | 0.0172 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759662 | G | GATATATA | intron_variant | MODIFIER | HG00280.hp2 HG01192.hp1 HG01358.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0040a0001c0001t0002g0096a0001c0001t0002g0113others(28): Show | 31 | 232 | 0.1336 | 7 | c.-67 others(26): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNN1_chr19_17962107_18005085 | 17980228 | A | ATTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG01243.hp1 HG04204.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0320a0001c0001t0001g0321a0001c0001t0001g0323others(7): Show | 10 | 378 | 0.0265 | 7 | c.499 others(24): Show |
KCNN1 | ENSG00000105642.16 | transcript | ENST00000684775.1 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KCNN3_chr1_154692455_154875281 | 154800888 | T | TACAAAGA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(101): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0004a0001c0008others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(83): Show | a0001c0001t0001g0057a0001c0001t0001g0072a0001c0001t0001g0119others(100): Show | 104 | 238 | 0.4370 | 7 | c.102 others(28): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
KCNQ1_chr11_2440008_2854105 | 2521029 | T | TTGTTTGC | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(161): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0020others(161): Show | 164 | 208 | 0.7885 | 7 | c.387 others(24): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KCNQ1_chr11_2440008_2854105 | 2598609 | T | TAAAAAAA | intron_variant | MODIFIER | HG02280.hp1 HG02572.hp2 HG02630.hp1 others(18): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0042a0001c0001t0001g0055a0001c0001t0001g0138others(18): Show | 21 | 208 | 0.1010 | 7 | c.139 others(26): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KCNQ1_chr11_2440008_2854105 | 2620212 | T | TATATATA | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG03540.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(1): Show | a0001c0001t0001g0134a0001c0001t0001g0137a0001c0001t0007g0018others(3): Show | 6 | 208 | 0.0289 | 7 | c.139 others(28): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 10/15 | chr11 | TogoVar | ||||||
KCNQ1_chr11_2440008_2854105 | 2756951 | T | TAAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG01981.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0145a0001c0001t0002g0056a0001c0001t0002g0161others(4): Show | 7 | 208 | 0.0337 | 7 | c.151 others(28): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KCNQ2_chr20_63395208_63477655 | 63470236 | A | AGCTGGGG | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(86): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0007others(13): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0023others(38): Show | a0001c0002t0003g0304a0001c0002t0005g0021a0001c0002t0005g0022others(85): Show | 89 | 330 | 0.2697 | 7 | c.296 others(24): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | ||||||
KCNQ3_chr8_132115861_132486095 | 132403016 | C | CAAAAAAA | intron_variant | MODIFIER | HG01167.hp2 HG01884.hp1 HG02145.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0010others(11): Show | a0001c0001t0004g0074a0001c0001t0004g0096a0001c0001t0007g0166others(14): Show | 17 | 176 | 0.0966 | 7 | c.386 others(26): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 72658579 | T | TATATATA | intron_variant | MODIFIER | HG02895.hp2 HG06807.hp2 |
a0001 | a0001c0005a0001c0009 | a0001c0005t0006a0001c0009t0014 | a0001c0005t0006g0017a0001c0009t0014g0031 | 2 | 80 | 0.0250 | 7 | c.398 others(26): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | chr6 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 72838949 | C | CAAAAAAA | intron_variant | MODIFIER | HG01071.hp1 HG02293.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0012a0001c0002t0010others(3): Show | a0001c0001t0003g0011a0001c0001t0012g0024a0001c0002t0010g0052others(3): Show | 6 | 80 | 0.0750 | 7 | c.399 others(28): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCNQ5_chr6_72617064_73203853 | 72922810 | C | CTTTTTCT | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00639.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0013a0001c0001t0003g0015a0001c0001t0003g0067others(15): Show | 18 | 80 | 0.2250 | 7 | c.399 others(26): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCNRG_chr13_50010444_50025922 | 50014342 | A | ATATATAT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG02027.hp2 NA18968.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005 | 14 | 448 | 0.0313 | 7 | c.-11 others(18): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 1101 | chr13 | TogoVar | ||||||
KCNRG_chr13_50010444_50025922 | 50014344 | A | AAATATAT | upstream_gene_variant | MODIFIER | HG00597.hp1 HG01243.hp2 HG01433.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(2): Show | 17 | 448 | 0.0380 | 7 | c.-11 others(18): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 1099 | chr13 | TogoVar | ||||||
KCNRG_chr13_50010444_50025922 | 50014344 | A | ATATATAT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00673.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(3): Show | 33 | 448 | 0.0737 | 7 | c.-11 others(18): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 1099 | chr13 | TogoVar |