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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNJ5_chr11_128886356_128926163 | 128891433 | C | CAGAGAGA others(13): Show |
5_prime_UTR_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0202 | a0001c0001t0202g0300 | 1 | 460 | 0.0022 | 20 | c.-29 others(29): Show |
KCNJ5 | ENSG00000120457.12 | transcript | ENST00000529694.6 | protein_coding | 1/3 | 19839 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KCNJ5_chr11_128886356_128926163 | 128891435 | C | CAGAGAGA others(13): Show |
5_prime_UTR_variant | MODIFIER | HG03453.hp1 NA18982.hp2 NA19078.hp1 |
a0001 | a0001c0001 | a0001c0001t0064a0001c0001t0174 | a0001c0001t0064g0001 a0001c0001t0174g0110 |
3 | 460 | 0.0065 | 20 | c.-29 others(29): Show |
KCNJ5 | ENSG00000120457.12 | transcript | ENST00000529694.6 | protein_coding | 1/3 | 19837 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KCNJ5_chr11_128886356_128926163 | 128891439 | C | CAGAGAGA others(13): Show |
5_prime_UTR_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0122 | a0001c0001t0122g0133 | 1 | 460 | 0.0022 | 20 | c.-29 others(29): Show |
KCNJ5 | ENSG00000120457.12 | transcript | ENST00000529694.6 | protein_coding | 1/3 | 19833 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KCNJ5_chr11_128886356_128926163 | 128891441 | C | CAGAGAGA others(13): Show |
5_prime_UTR_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0098 | a0001c0001t0098g0333 | 1 | 460 | 0.0022 | 20 | c.-27 others(29): Show |
KCNJ5 | ENSG00000120457.12 | transcript | ENST00000529694.6 | protein_coding | 1/3 | 19797 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KCNJ5_chr11_128886356_128926163 | 128916244 | A | AGATGGAT others(13): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01099.hp2 HG02071.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0022a0001c0001t0048others(3): Show | a0001c0001t0004g0084 a0001c0001t0022g0128 a0001c0001t0048g0189 others(3): Show |
6 | 460 | 0.0130 | 20 | c.938 others(35): Show |
KCNJ5 | ENSG00000120457.12 | transcript | ENST00000529694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNJ5_chr11_128886356_128926163 | 128916290 | C | CTGGATGG others(13): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0269 | 1 | 460 | 0.0022 | 20 | c.938 others(34): Show |
KCNJ5 | ENSG00000120457.12 | transcript | ENST00000529694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37605656 | T | TCATCCAT others(13): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG02647.hp2 HG06807.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0001t0101a0001c0002t0161 | a0001c0001t0013g0167 a0001c0001t0101g0063 a0001c0002t0161g0154 |
3 | 198 | 0.0152 | 20 | c.*19 others(33): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 1716 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37607463 | G | GATATATA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG01433.hp1 NA18955.hp2 NA18957.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0094a0001c0003t0111a0001c0003t0124 | a0001c0001t0094g0174 a0001c0003t0111g0077 a0001c0003t0124g0078 |
3 | 198 | 0.0152 | 20 | c.*17 others(33): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 17695 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37607482 | A | ATATATAT others(13): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0123 | 1 | 198 | 0.0051 | 20 | c.*17 others(33): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 17676 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37607482 | A | ATATATAT others(13): Show |
3_prime_UTR_variant | MODIFIER | HG02132.hp1 NA19043.hp1 NA19091.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0020a0001c0001t0133a0001c0003t0121 | a0001c0001t0020g0023 a0001c0001t0133g0073 a0001c0003t0121g0125 |
3 | 198 | 0.0152 | 20 | c.*17 others(33): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 17676 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37615244 | C | CTTTTTTT others(13): Show |
3_prime_UTR_variant | MODIFIER | HG01258.hp2 HG03453.hp1 NA19240.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0166a0001c0001t0169a0002c0005t0171 | a0001c0001t0166g0146 a0001c0001t0169g0166 a0002c0005t0171g0135 |
3 | 198 | 0.0152 | 20 | c.*98 others(31): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 9914 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37616590 | C | CATATATA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG01106.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0063a0001c0001t0172 | a0001c0001t0063g0149 a0001c0001t0172g0134 |
2 | 198 | 0.0101 | 20 | c.*85 others(31): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 8568 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37617169 | T | TTTCCTTC others(13): Show |
3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG02630.hp1 NA19055.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0097a0001c0001t0098others(1): Show | a0001c0001t0010g0002 a0001c0001t0097g0137 a0001c0001t0098g0105 others(1): Show |
4 | 198 | 0.0202 | 20 | c.*79 others(31): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 7989 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37818193 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0177 | a0001c0001t0177g0016 | 1 | 198 | 0.0051 | 20 | c.25+ others(37): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37853835 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0107 | a0001c0001t0107g0087 | 1 | 198 | 0.0051 | 20 | c.-27 others(39): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37853846 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG03486.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0085a0001c0001t0091 | a0001c0001t0085g0169 a0001c0001t0091g0168 |
2 | 198 | 0.0101 | 20 | c.-27 others(39): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37853846 | G | GTGTATAT others(13): Show |
intron_variant | MODIFIER | HG00735.hp2 HG04199.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0190a0001c0002t0149 | a0001c0001t0190g0198 a0001c0002t0149g0066 |
2 | 198 | 0.0101 | 20 | c.-27 others(39): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37853853 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02630.hp1 NA18963.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0025a0001c0001t0097a0001c0003t0100 | a0001c0001t0025g0124 a0001c0001t0097g0137 a0001c0003t0100g0064 |
3 | 198 | 0.0152 | 20 | c.-27 others(39): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37859487 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0003 | a0001c0003t0126 | a0001c0003t0126g0035 | 1 | 198 | 0.0051 | 20 | c.-27 others(39): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37863846 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0161 | 1 | 198 | 0.0051 | 20 | c.-27 others(39): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37914008 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 NA19000.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0020a0001c0001t0075a0001c0002t0017 | a0001c0001t0020g0023 a0001c0001t0075g0024 a0001c0002t0017g0022 |
3 | 198 | 0.0152 | 20 | c.-28 others(37): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88198892 | C | CTTATTTT others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01069.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0019others(13): Show | a0001c0001t0002g0094 a0001c0001t0010g0306 a0001c0001t0010g0307 others(23): Show |
26 | 334 | 0.0778 | 20 | c.682 others(37): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 4/6 | chr14 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88212109 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG01123.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0028a0001c0002t0001a0001c0002t0002others(8): Show | a0001c0001t0028g0037 a0001c0002t0001g0078 a0001c0002t0002g0119 others(21): Show |
24 | 334 | 0.0719 | 20 | c.681 others(39): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 4/6 | chr14 | TogoVar | |||||||
KCNK12_chr2_47504290_47575985 | 47540772 | A | AAAACAAA others(13): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0156 | 1 | 388 | 0.0026 | 20 | c.392 others(39): Show |
KCNK12 | ENSG00000184261.5 | transcript | ENST00000327876.5 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
KCNK13_chr14_90056994_90190853 | 90079322 | G | GAGGGAAT others(13): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02723.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0003 | a0001c0001t0001g0312 a0003c0003t0003g0173 |
2 | 320 | 0.0063 | 20 | c.334 others(39): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KCNK13_chr14_90056994_90190853 | 90101790 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 a0001c0001t0001g0195 a0001c0001t0001g0196 others(1): Show |
4 | 320 | 0.0125 | 20 | c.334 others(39): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KCNK13_chr14_90056994_90190853 | 90130179 | C | CATTTATT others(13): Show |
intron_variant | MODIFIER | HG03834.hp1 NA19004.hp1 NA19082.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0143 a0002c0002t0001g0168 a0002c0002t0001g0169 |
3 | 320 | 0.0094 | 20 | c.335 others(39): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KCNK13_chr14_90056994_90190853 | 90143146 | A | ACTTTCTT others(13): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 320 | 0.0031 | 20 | c.335 others(39): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KCNK1_chr1_233609106_233677514 | 233613671 | G | GCACACAC others(13): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0186 | 1 | 422 | 0.0024 | 20 | c.-50 others(29): Show |
KCNK1 | ENSG00000135750.15 | transcript | ENST00000366621.8 | protein_coding | 434 | chr1 | TogoVar | |||||||
KCNK1_chr1_233609106_233677514 | 233613672 | A | AACACACA others(13): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0005 | 2 | 422 | 0.0047 | 20 | c.-50 others(29): Show |
KCNK1 | ENSG00000135750.15 | transcript | ENST00000366621.8 | protein_coding | 433 | chr1 | TogoVar | |||||||
KCNK2_chr1_215077737_215242090 | 215177740 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0122 | 1 | 260 | 0.0039 | 20 | c.823 others(37): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215209414 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp1 others(101): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(41): Show | a0001c0001t0001g0094 a0001c0001t0003g0024 a0001c0001t0003g0035 others(101): Show |
104 | 260 | 0.4000 | 20 | c.963 others(39): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215209463 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0077 | 1 | 260 | 0.0039 | 20 | c.963 others(39): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215230507 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG03669.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0046a0001c0001t0054 | a0001c0001t0046g0122 a0001c0001t0054g0106 |
2 | 260 | 0.0077 | 20 | c.964 others(37): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215238848 | T | TAAATAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00639.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(16): Show | a0001c0001t0001g0094 a0001c0001t0008g0185 a0001c0001t0008g0234 others(39): Show |
42 | 260 | 0.1615 | 20 | c.*37 others(31): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 1759 | chr1 | TogoVar | |||||||
KCNK3_chr2_26687722_26738420 | 26699207 | G | GAGAAAGA others(13): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00738.hp2 HG02074.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0055 others(5): Show |
8 | 336 | 0.0238 | 20 | c.283 others(37): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNK3_chr2_26687722_26738420 | 26699250 | A | AAAGAAAG others(13): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG02132.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010 | a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0003g0057 others(1): Show |
4 | 336 | 0.0119 | 20 | c.283 others(37): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNK3_chr2_26687722_26738420 | 26735054 | T | TACACACA others(13): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(3): Show | a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0022 others(41): Show |
54 | 336 | 0.1607 | 20 | c.*64 others(31): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1635 | chr2 | TogoVar | |||||||
KCNK3_chr2_26687722_26738420 | 26735208 | A | AACACACA others(13): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG01074.hp1 HG01081.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(1): Show | a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0022 others(10): Show |
17 | 336 | 0.0506 | 20 | c.*66 others(31): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1789 | chr2 | TogoVar | |||||||
KCNK9_chr8_139612121_139708123 | 139637760 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01361.hp1 HG01433.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0030 a0001c0001t0001g0178 a0001c0001t0001g0179 others(8): Show |
11 | 322 | 0.0342 | 20 | c.284 others(39): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
KCNK9_chr8_139612121_139708123 | 139663648 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03516.hp1 NA18949.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0107 others(3): Show |
6 | 322 | 0.0186 | 20 | c.283 others(39): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
KCNK9_chr8_139612121_139708123 | 139687573 | T | TATATATG others(13): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 a0001c0001t0001g0306 |
2 | 322 | 0.0062 | 20 | c.283 others(39): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
KCNK9_chr8_139612121_139708123 | 139704967 | C | CACATATA others(13): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 a0001c0001t0001g0228 |
2 | 322 | 0.0062 | 20 | c.-19 others(31): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1845 | chr8 | TogoVar | |||||||
KCNK9_chr8_139612121_139708123 | 139704967 | C | CATATATA others(13): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 NA18977.hp2 NA18986.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0190 a0001c0001t0001g0230 a0001c0001t0002g0183 others(1): Show |
4 | 322 | 0.0124 | 20 | c.-19 others(31): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1845 | chr8 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 76920016 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0061 | 1 | 106 | 0.0094 | 20 | c.290 others(39): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 23/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 76920016 | G | GTATATGT others(13): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0105 | 1 | 106 | 0.0094 | 20 | c.290 others(39): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 23/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 76920020 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0045 | 1 | 106 | 0.0094 | 20 | c.290 others(39): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 23/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 76940994 | A | AAAGGAAG others(13): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0004 | 1 | 106 | 0.0094 | 20 | c.290 others(39): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 23/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 76940998 | A | AAAGGAAG others(13): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03471.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0003 | a0001c0001t0003g0034 a0001c0003t0003g0082 |
2 | 106 | 0.0189 | 20 | c.290 others(39): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 23/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 76941018 | G | GAAGAAAG others(13): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01167.hp1 HG02027.hp2 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0002a0001c0002t0004a0001c0007t0002 | a0001c0002t0002g0047 a0001c0002t0004g0105 a0001c0007t0002g0014 |
3 | 106 | 0.0283 | 20 | c.290 others(39): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 23/27 | chr10 | TogoVar |