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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNIP4_chr4_20723606_21953772 | 20861970 | G | GTTATTAT others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02615.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0013 a0001c0001t0001g0054 a0001c0001t0002g0021 others(8): Show |
11 | 24 | 0.4583 | 9 | c.164 others(28): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 2/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21147962 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01433.hp1 HG02257.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0003others(1): Show | a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0004g0025 others(2): Show |
5 | 66 | 0.0758 | 9 | c.62- others(28): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21177877 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0001 a0001c0001t0003g0018 |
2 | 80 | 0.0250 | 9 | c.62- others(28): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21226321 | G | GGGAAGGG others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02886.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0024 a0001c0001t0002g0035 a0001c0001t0007g0032 others(1): Show |
4 | 80 | 0.0500 | 9 | c.62- others(28): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21234216 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02630.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0015others(1): Show | a0001c0001t0001g0005 a0001c0001t0008g0069 a0001c0001t0015g0023 others(1): Show |
4 | 78 | 0.0513 | 9 | c.62- others(28): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21234277 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02615.hp1 HG02615.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0013 a0001c0001t0001g0060 a0001c0001t0002g0001 others(5): Show |
8 | 80 | 0.1000 | 9 | c.62- others(28): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21234364 | T | TTATATAT others(2): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02572.hp1 HG02622.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(4): Show | a0001c0001t0001g0005 a0001c0001t0007g0032 a0001c0001t0008g0069 others(4): Show |
7 | 80 | 0.0875 | 9 | c.62- others(28): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21234365 | A | AACATATA others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02886.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0024 a0001c0001t0002g0035 a0001c0001t0002g0063 others(1): Show |
4 | 57 | 0.0702 | 9 | c.62- others(28): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21396549 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01517.hp1 HG02055.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0031 others(13): Show |
16 | 32 | 0.5000 | 9 | c.62- others(28): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21466035 | G | GTACTATG others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02280.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0037 a0001c0001t0001g0054 a0001c0001t0001g0068 others(5): Show |
8 | 80 | 0.1000 | 9 | c.61+ others(28): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21485962 | A | AGCTCACC others(2): Show |
intron_variant | MODIFIER | HG01517.hp1 HG02647.hp2 HG02886.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0070 others(5): Show |
8 | 80 | 0.1000 | 9 | c.61+ others(28): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21720013 | A | AAGAAGAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG02055.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0017 a0001c0001t0001g0070 a0001c0001t0001g0075 others(13): Show |
16 | 65 | 0.2462 | 9 | c.61+ others(28): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNJ15_chr21_38251991_38312357 | 38288026 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01928.hp1 HG01952.hp2 others(9): Show |
a0002a0004 | a0002c0002a0004c0006 | a0002c0002t0003a0002c0002t0006a0002c0002t0009others(3): Show | a0002c0002t0003g0081 a0002c0002t0003g0082 a0002c0002t0003g0083 others(9): Show |
12 | 199 | 0.0603 | 9 | c.-11 others(28): Show |
KCNJ15 | ENSG00000157551.19 | transcript | ENST00000398938.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
KCNJ16_chr17_70070225_70140608 | 70103286 | A | ATGTGTGA others(2): Show |
intron_variant | MODIFIER | HG01993.hp1 NA18964.hp1 NA18973.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0019 a0001c0001t0001g0237 a0001c0001t0001g0238 others(3): Show |
6 | 52 | 0.1154 | 9 | c.-19 others(28): Show |
KCNJ16 | ENSG00000153822.15 | transcript | ENST00000392671.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KCNJ18_chr17_21687523_21709612 | 21688239 | A | AACCAGAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01517.hp1 HG01517.hp2 others(39): Show |
a0002a0008a0011others(1): Show | a0002c0002a0002c0005a0002c0008others(3): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0008others(7): Show | a0002c0002t0002g0003 a0002c0002t0002g0007 a0002c0002t0002g0020 others(25): Show |
42 | 110 | 0.3818 | 9 | c.-46 others(20): Show |
KCNJ18 | ENSG00000260458.3 | transcript | ENST00000567955.3 | protein_coding | 4283 | chr17 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128836083 | T | TCCCACCC others(2): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01074.hp1 others(24): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0034 others(19): Show |
27 | 29 | 0.9310 | 9 | c.*30 others(20): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 1936 | chr11 | TogoVar | |||||||
KCNJ2_chr17_70164532_70185044 | 70174872 | C | CAGTAGTC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02622.hp2 HG02809.hp2 HG02818.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0039a0001c0001t0077others(3): Show | a0001c0001t0025g0013 a0001c0001t0039g0013 a0001c0001t0039g0033 others(4): Show |
10 | 446 | 0.0224 | 9 | c.-16 others(18): Show |
KCNJ2 | ENSG00000123700.5 | transcript | ENST00000243457.4 | protein_coding | 2/2 | 162 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KCNJ3_chr2_154693695_154863354 | 154834669 | C | CAGTGAGC others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00558.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0009a0001c0001t0041a0001c0002t0010others(11): Show | a0001c0001t0009g0281 a0001c0001t0041g0191 a0001c0002t0010g0068 others(28): Show |
31 | 282 | 0.1099 | 9 | c.920 others(28): Show |
KCNJ3 | ENSG00000162989.5 | transcript | ENST00000295101.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37661614 | G | GTTCTTTT others(2): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02572.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0051a0001c0001t0140a0001c0001t0169others(4): Show | a0001c0001t0051g0018 a0001c0001t0140g0019 a0001c0001t0169g0166 others(4): Show |
7 | 46 | 0.1522 | 9 | c.947 others(28): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37667154 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01175.hp1 HG01257.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0010a0001c0001t0020a0001c0001t0026others(19): Show | a0001c0001t0010g0093 a0001c0001t0020g0104 a0001c0001t0026g0083 others(19): Show |
22 | 61 | 0.3607 | 9 | c.947 others(28): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37685706 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02572.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0140a0001c0001t0169a0001c0001t0173others(2): Show | a0001c0001t0140g0019 a0001c0001t0169g0166 a0001c0001t0173g0099 others(2): Show |
5 | 7 | 0.7143 | 9 | c.946 others(28): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37769412 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02622.hp1 HG02647.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0022a0001c0001t0066a0001c0001t0097others(3): Show | a0001c0001t0022g0023 a0001c0001t0066g0149 a0001c0001t0097g0138 others(3): Show |
6 | 69 | 0.0870 | 9 | c.26- others(26): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
KCNJ9_chr1_160076538_160095563 | 160077926 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG01074.hp1 others(51): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(17): Show |
54 | 113 | 0.4779 | 9 | c.-38 others(20): Show |
KCNJ9 | ENSG00000162728.5 | transcript | ENST00000368088.4 | protein_coding | 3611 | chr1 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88213921 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00738.hp2 HG01074.hp1 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0011a0001c0001t0018a0001c0001t0034others(16): Show | a0001c0001t0011g0150 a0001c0001t0011g0158 a0001c0001t0011g0159 others(35): Show |
38 | 145 | 0.2621 | 9 | c.681 others(28): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 4/6 | chr14 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88221301 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00597.hp2 others(103): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0018a0001c0001t0034others(38): Show | a0001c0001t0001g0220 a0001c0001t0018g0052 a0001c0001t0034g0323 others(103): Show |
106 | 186 | 0.5699 | 9 | c.681 others(26): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 4/6 | chr14 | TogoVar | |||||||
KCNK13_chr14_90056994_90190853 | 90157702 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00621.hp2 others(109): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(109): Show |
112 | 172 | 0.6512 | 9 | c.335 others(28): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KCNK1_chr1_233609106_233677514 | 233628760 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG03540.hp1 HG03579.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0207 a0001c0001t0002g0215 a0001c0001t0009g0097 |
3 | 285 | 0.0105 | 9 | c.355 others(28): Show |
KCNK1 | ENSG00000135750.15 | transcript | ENST00000366621.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK1_chr1_233609106_233677514 | 233662238 | C | CCTTCTTC others(2): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01192.hp2 HG02055.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0179 others(3): Show |
6 | 210 | 0.0286 | 9 | c.356 others(26): Show |
KCNK1 | ENSG00000135750.15 | transcript | ENST00000366621.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215210003 | T | TTTTATAT others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG03239.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0007 | a0001c0001t0004g0076 a0001c0001t0006g0070 a0001c0001t0007g0049 |
3 | 256 | 0.0117 | 9 | c.963 others(28): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK3_chr2_26687722_26738420 | 26734712 | T | TTTATTAT others(2): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 HG02258.hp1 HG02886.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0042 | a0001c0001t0002g0025 a0001c0001t0002g0223 a0001c0001t0002g0236 others(2): Show |
5 | 17 | 0.2941 | 9 | c.*61 others(20): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1293 | chr2 | TogoVar | |||||||
KCNK5_chr6_39183971_39234475 | 39217118 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02055.hp2 HG02451.hp2 others(5): Show |
a0001a0011 | a0001c0001a0001c0004a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0004g0317 others(5): Show |
8 | 35 | 0.2286 | 9 | c.186 others(28): Show |
KCNK5 | ENSG00000164626.9 | transcript | ENST00000359534.4 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77134997 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01081.hp1 HG01081.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0002g0069 a0001c0002t0001g0002 a0001c0002t0002g0009 others(10): Show |
13 | 18 | 0.7222 | 9 | c.809 others(28): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 5/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77295787 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01258.hp1 HG02559.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0016others(2): Show | a0001c0001t0003g0016 a0001c0001t0003g0029 a0001c0001t0005g0072 others(4): Show |
7 | 22 | 0.3182 | 9 | c.541 others(28): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 2/27 | chr10 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178595059 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01169.hp2 HG02109.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0200 a0001c0001t0002g0076 a0001c0001t0002g0080 others(9): Show |
12 | 47 | 0.2553 | 9 | c.-68 others(28): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178655095 | C | CTCTCTCT others(2): Show |
intron_variant | MODIFIER | HG02004.hp1 NA18998.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0183 a0001c0002t0001g0070 |
2 | 70 | 0.0286 | 9 | c.-68 others(30): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178691107 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00642.hp2 HG00673.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0101 a0001c0001t0001g0200 a0001c0001t0002g0156 others(30): Show |
33 | 75 | 0.4400 | 9 | c.-67 others(30): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758872 | G | GATATATA others(2): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03209.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0217 a0001c0002t0001g0226 |
2 | 110 | 0.0182 | 9 | c.-67 others(28): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759089 | G | GGATATAT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 NA18747.hp1 NA18949.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0004a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0004g0185 a0001c0002t0001g0053 a0001c0002t0001g0134 others(3): Show |
6 | 176 | 0.0341 | 9 | c.-67 others(28): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759114 | G | GGATATAT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01346.hp1 HG01358.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0001 | a0001c0001t0003g0126 a0001c0001t0004g0007 a0001c0001t0004g0078 others(8): Show |
11 | 164 | 0.0671 | 9 | c.-67 others(28): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759137 | G | GGTGATTG others(2): Show |
intron_variant | MODIFIER | HG01169.hp2 HG03130.hp1 HG03834.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0001 | a0001c0001t0003g0163 a0001c0001t0004g0160 a0001c0002t0001g0195 |
3 | 229 | 0.0131 | 9 | 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 | 178759139 | G | GGATATAT others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01515.hp1 HG03017.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0122 a0001c0001t0003g0130 a0001c0001t0003g0180 others(1): Show |
4 | 180 | 0.0222 | 9 | c.-67 others(28): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759292 | G | GGATATAT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02622.hp2 NA18963.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0060 a0001c0001t0003g0173 a0001c0001t0003g0211 others(1): Show |
4 | 182 | 0.0220 | 9 | c.-67 others(28): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759316 | G | GGATATAT others(2): Show |
intron_variant | MODIFIER | HG01358.hp2 HG01496.hp1 HG01978.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0040 a0001c0001t0002g0091 a0001c0001t0002g0092 others(16): Show |
19 | 174 | 0.1092 | 9 | c.-67 others(28): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759344 | G | GGATATAT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01261.hp2 HG02257.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0004 a0001c0001t0002g0113 a0001c0001t0002g0148 others(11): Show |
14 | 115 | 0.1217 | 9 | c.-67 others(28): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759372 | G | GGATATAT others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02647.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0113 a0001c0001t0003g0064 a0001c0001t0003g0068 others(3): Show |
6 | 160 | 0.0375 | 9 | c.-67 others(28): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759444 | T | TTCAAGAG others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG03834.hp2 NA18747.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0053 a0001c0002t0001g0195 a0001c0002t0002g0054 |
3 | 216 | 0.0139 | 9 | c.-67 others(28): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759552 | G | GGATATAT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01515.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0122 a0001c0001t0003g0127 a0001c0001t0003g0130 others(9): Show |
12 | 218 | 0.0550 | 9 | c.-67 others(28): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759662 | G | GATATATA others(2): Show |
intron_variant | MODIFIER | HG03942.hp2 NA18949.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0068 a0001c0001t0003g0176 |
2 | 154 | 0.0130 | 9 | c.-67 others(28): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154869723 | G | GGCTGCTG others(2): Show |
conservative_inframe_insertion | MODERATE | HG00735.hp1 HG00738.hp1 HG00738.hp2 others(32): Show |
a0003 | a0003c0003a0003c0007a0003c0027 | a0003c0003t0001a0003c0003t0003a0003c0003t0006others(27): Show | a0003c0003t0001g0168 a0003c0003t0001g0182 a0003c0003t0003g0184 others(32): Show |
35 | 47 | 0.7447 | 9 | c.233 others(16): 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 | 2445250 | A | ACGCGCCC others(2): Show |
conservative_inframe_insertion | MODERATE | HG02258.hp1 HG03041.hp2 HG03225.hp1 others(1): Show |
a0003 | a0003c0006a0003c0010 | a0003c0006t0001a0003c0006t0004a0003c0006t0010others(1): Show | a0003c0006t0001g0008 a0003c0006t0004g0011 a0003c0006t0010g0012 others(1): Show |
4 | 206 | 0.0194 | 9 | c.160 others(16): Show |
p.Ile others(11): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 1/16 | 260/3224 | 169/2031 | 57/676 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |