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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNIP1_chr5_170499020_170741632 | 170682784 | C | CTTTTTTT | intron_variant | MODIFIER | HG01109.hp1 HG02572.hp1 HG02622.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0145 a0001c0001t0001g0209 a0001c0001t0002g0121 others(7): Show |
10 | 218 | 0.0459 | 7 | c.62- others(24): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNIP1_chr5_170499020_170741632 | 170726745 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG00621.hp2 others(63): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 others(63): Show |
66 | 218 | 0.3028 | 7 | c.435 others(24): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21137871 | C | CTTTTTTT | intron_variant | MODIFIER | HG01123.hp1 HG01243.hp1 HG01433.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0037 others(14): Show |
17 | 80 | 0.2125 | 7 | c.62- others(26): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21234177 | T | TATATAAC | intron_variant | MODIFIER | HG02055.hp2 HG02886.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0035 a0001c0002t0001g0073 |
2 | 80 | 0.0250 | 7 | c.62- others(26): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21234420 | T | TATATAAC | intron_variant | MODIFIER | HG01106.hp2 HG01243.hp1 HG02055.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0054 a0001c0001t0001g0066 others(15): Show |
18 | 80 | 0.2250 | 7 | c.62- others(26): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21234449 | T | TAACATAC | intron_variant | MODIFIER | HG02886.hp1 HG03041.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0006 | a0001c0001t0002g0035 a0001c0002t0006g0019 |
2 | 80 | 0.0250 | 7 | c.62- others(26): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21519740 | G | GTGTATAT | intron_variant | MODIFIER | HG02965.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0024 a0001c0001t0003g0018 |
2 | 80 | 0.0250 | 7 | c.61+ others(26): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21569234 | T | TAAAAAAA | intron_variant | MODIFIER | HG02451.hp1 HG02572.hp2 HG02886.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0014 a0001c0001t0004g0025 a0001c0001t0005g0027 others(2): Show |
5 | 80 | 0.0625 | 7 | c.61+ others(26): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21623971 | T | TATATATA | intron_variant | MODIFIER | HG02615.hp1 HG03098.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0054 a0001c0001t0005g0034 a0001c0001t0005g0072 |
3 | 80 | 0.0375 | 7 | c.61+ others(26): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21629849 | C | CTTTTTTT | intron_variant | MODIFIER | HG01243.hp2 HG01517.hp2 HG02300.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0042 a0001c0001t0001g0054 a0001c0001t0003g0030 others(6): Show |
9 | 80 | 0.1125 | 7 | c.61+ others(26): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21694914 | C | CAAAAAAA | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0010 | a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0056 others(3): Show |
6 | 80 | 0.0750 | 7 | c.61+ others(26): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21697316 | T | TAAAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0074 a0001c0001t0003g0080 a0001c0001t0005g0072 others(1): Show |
4 | 80 | 0.0500 | 7 | c.61+ others(26): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21792000 | C | CAAAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02257.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0068 others(6): Show |
9 | 80 | 0.1125 | 7 | c.61+ others(26): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNJ12_chr17_21371357_21424870 | 21392475 | A | AGGCAGGG | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01070.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(11): Show | a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0004g0071 others(20): Show |
24 | 376 | 0.0638 | 7 | c.-17 others(28): Show |
KCNJ12 | ENSG00000184185.10 | transcript | ENST00000583088.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KCNJ15_chr21_38251991_38312357 | 38288026 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00621.hp2 others(56): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0007others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(22): Show | a0001c0001t0001g0027 a0001c0001t0001g0104 a0001c0001t0001g0120 others(53): Show |
59 | 406 | 0.1453 | 7 | c.-11 others(26): Show |
KCNJ15 | ENSG00000157551.19 | transcript | ENST00000398938.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
KCNJ15_chr21_38251991_38312357 | 38304662 | C | CTTTTTTT | 3_prime_UTR_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG01928.hp1 others(26): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0029a0002c0002t0006a0002c0002t0090others(7): Show | a0001c0001t0029g0062 a0001c0001t0029g0064 a0001c0001t0029g0065 others(25): Show |
29 | 406 | 0.0714 | 7 | c.*42 others(18): Show |
KCNJ15 | ENSG00000157551.19 | transcript | ENST00000398938.7 | protein_coding | 3/3 | 4305 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
KCNJ3_chr2_154693695_154863354 | 154727591 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG01169.hp2 HG01243.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0245 a0001c0001t0002g0272 a0001c0001t0004g0269 others(6): Show |
9 | 284 | 0.0317 | 7 | c.919 others(26): Show |
KCNJ3 | ENSG00000162989.5 | transcript | ENST00000295101.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNJ3_chr2_154693695_154863354 | 154850008 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG00673.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0001g0072 a0001c0001t0001g0152 a0001c0001t0001g0212 others(16): Show |
19 | 284 | 0.0669 | 7 | c.920 others(24): Show |
KCNJ3 | ENSG00000162989.5 | transcript | ENST00000295101.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNJ3_chr2_154693695_154863354 | 154862051 | T | TCAGGAGC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(169): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0023 others(169): Show |
172 | 284 | 0.6056 | 7 | c.*67 others(18): Show |
KCNJ3 | ENSG00000162989.5 | transcript | ENST00000295101.3 | protein_coding | 3698 | chr2 | TogoVar | |||||||
KCNJ3_chr2_154693695_154863354 | 154862051 | T | TCAGGAGG | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00639.hp2 others(27): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0010a0001c0002t0012a0001c0002t0013others(9): Show | a0001c0002t0010g0068 a0001c0002t0010g0098 a0001c0002t0010g0136 others(27): Show |
30 | 284 | 0.1056 | 7 | c.*67 others(18): Show |
KCNJ3 | ENSG00000162989.5 | transcript | ENST00000295101.3 | protein_coding | 3698 | chr2 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37607483 | T | TATATATA | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00438.hp1 NA18983.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0047a0001c0002t0017a0001c0002t0145others(1): Show | a0001c0001t0047g0179 a0001c0002t0017g0022 a0001c0002t0145g0094 others(1): Show |
4 | 198 | 0.0202 | 7 | c.*17 others(20): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 17675 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37610598 | T | TAAAAAAA | 3_prime_UTR_variant | MODIFIER | HG01256.hp2 HG01891.hp1 HG02083.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0019a0001c0001t0023others(6): Show | a0001c0001t0018g0104 a0001c0001t0019g0032 a0001c0001t0023g0161 others(6): Show |
9 | 198 | 0.0455 | 7 | c.*14 others(20): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 14560 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37616610 | T | TATATATA | 3_prime_UTR_variant | MODIFIER | NA19043.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0163a0001c0001t0164 | a0001c0001t0163g0056 a0001c0001t0164g0171 |
2 | 198 | 0.0101 | 7 | c.*85 others(18): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 8548 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37617053 | T | TTTCTTTC | 3_prime_UTR_variant | MODIFIER | HG02129.hp2 NA19055.hp1 NA19064.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0110a0001c0001t0123a0001c0003t0015others(1): Show | a0001c0001t0110g0074 a0001c0001t0123g0008 a0001c0003t0015g0182 others(1): Show |
4 | 198 | 0.0202 | 7 | c.*81 others(18): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 8105 | chr21 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37658124 | A | ACTGCTGT | intron_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG00735.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(38): Show | a0001c0001t0001g0020 a0001c0001t0001g0132 a0001c0001t0010g0002 others(40): Show |
43 | 198 | 0.2172 | 7 | c.947 others(26): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37661614 | G | GTTCTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG01175.hp1 others(12): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0043a0001c0001t0049a0001c0001t0054others(12): Show | a0001c0001t0043g0170 a0001c0001t0049g0030 a0001c0001t0054g0123 others(12): Show |
15 | 198 | 0.0758 | 7 | c.947 others(26): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37667154 | T | TAAAAAAA | intron_variant | MODIFIER | HG00741.hp2 HG01168.hp1 HG02723.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0026a0001c0001t0045a0001c0001t0050others(5): Show | a0001c0001t0026g0102 a0001c0001t0045g0088 a0001c0001t0050g0018 others(5): Show |
8 | 198 | 0.0404 | 7 | c.947 others(26): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37756724 | A | AGCGTGAT | intron_variant | MODIFIER | HG00639.hp1 HG01106.hp1 HG02647.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0063a0001c0001t0087a0001c0001t0095others(3): Show | a0001c0001t0063g0149 a0001c0001t0087g0144 a0001c0001t0095g0138 others(3): Show |
6 | 198 | 0.0303 | 7 | c.26- others(24): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37756937 | A | AGCGTGAT | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01106.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0013a0001c0001t0024a0001c0001t0063others(8): Show | a0001c0001t0013g0167 a0001c0001t0024g0083 a0001c0001t0063g0149 others(8): Show |
11 | 198 | 0.0556 | 7 | c.26- others(24): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37757150 | A | AGCGTGAT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(125): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(121): Show | a0001c0001t0001g0020 a0001c0001t0001g0132 a0001c0001t0002g0069 others(125): Show |
128 | 198 | 0.6465 | 7 | c.26- others(24): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37757150 | A | AGTGTGAT | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01106.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0063a0001c0001t0087a0001c0001t0095others(4): Show | a0001c0001t0063g0149 a0001c0001t0087g0144 a0001c0001t0095g0138 others(4): Show |
7 | 198 | 0.0354 | 7 | c.26- others(24): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
KCNJ9_chr1_160076538_160095563 | 160077926 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00558.hp2 HG01168.hp1 HG01255.hp2 others(43): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(11): Show |
46 | 430 | 0.1070 | 7 | c.-38 others(18): Show |
KCNJ9 | ENSG00000162728.5 | transcript | ENST00000368088.4 | protein_coding | 3611 | chr1 | TogoVar | |||||||
KCNJ9_chr1_160076538_160095563 | 160084358 | G | GCCTTCCT | frameshift_variant | HIGH | NA19091.hp1 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0003 | 1 | 430 | 0.0023 | 7 | c.330 others(14): Show |
p.Phe others(5): Show |
KCNJ9 | ENSG00000162728.5 | transcript | ENST00000368088.4 | protein_coding | 2/3 | 611/4202 | 337/1182 | 113/393 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
KCNK10_chr14_88175108_88328269 | 88197572 | T | TAAAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG01255.hp2 HG02056.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0019a0001c0001t0027others(3): Show | a0001c0001t0002g0195 a0001c0001t0002g0220 a0001c0001t0019g0287 others(4): Show |
7 | 334 | 0.0210 | 7 | c.682 others(24): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 4/6 | chr14 | TogoVar | |||||||
KCNK10_chr14_88175108_88328269 | 88274930 | T | TTCTTTGA | intron_variant | MODIFIER | HG01081.hp2 HG01891.hp2 HG02109.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(18): Show | a0001c0001t0002g0290 a0001c0001t0006g0191 a0001c0001t0006g0291 others(30): Show |
33 | 334 | 0.0988 | 7 | c.53- others(24): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
KCNK12_chr2_47504290_47575985 | 47533227 | T | TAAACTGC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(225): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(67): Show | a0001c0001t0001g0002 a0001c0001t0001g0059 a0001c0001t0001g0063 others(217): Show |
228 | 388 | 0.5876 | 7 | c.392 others(26): Show |
KCNK12 | ENSG00000184261.5 | transcript | ENST00000327876.5 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
KCNK13_chr14_90056994_90190853 | 90085745 | A | AATTATAT | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00597.hp1 others(58): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0014others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0054 others(58): Show |
61 | 320 | 0.1906 | 7 | c.334 others(26): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KCNK13_chr14_90056994_90190853 | 90092912 | C | CAAAAAAA | intron_variant | MODIFIER | HG01192.hp1 HG02132.hp2 HG02615.hp2 others(13): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0026 a0001c0001t0001g0139 a0001c0001t0002g0201 others(13): Show |
16 | 320 | 0.0500 | 7 | c.334 others(26): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KCNK13_chr14_90056994_90190853 | 90143176 | T | TTTCTTTC | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG01081.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0052 a0001c0001t0001g0200 a0001c0001t0001g0208 others(26): Show |
29 | 320 | 0.0906 | 7 | c.335 others(26): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KCNK13_chr14_90056994_90190853 | 90156486 | G | GAGATGCC | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01192.hp2 others(18): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0014a0001c0020others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0014t0001others(7): Show | a0001c0001t0001g0027 a0001c0001t0001g0073 a0001c0001t0001g0102 others(18): Show |
21 | 320 | 0.0656 | 7 | c.335 others(26): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KCNK1_chr1_233609106_233677514 | 233636755 | T | TTGCAGTG | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(334): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(326): Show |
337 | 422 | 0.7986 | 7 | c.355 others(26): Show |
KCNK1 | ENSG00000135750.15 | transcript | ENST00000366621.8 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
KCNK2_chr1_215077737_215242090 | 215177740 | A | ATATATTT | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG01099.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0205 a0001c0001t0001g0222 a0001c0001t0001g0229 others(16): Show |
19 | 260 | 0.0731 | 7 | c.823 others(24): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215177740 | A | ATATTTTT | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG02257.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0142 a0001c0001t0001g0156 a0001c0001t0001g0177 others(7): Show |
10 | 260 | 0.0385 | 7 | c.823 others(24): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215222264 | A | AATAAGAT | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp1 others(144): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(58): Show | a0001c0001t0001g0243 a0001c0001t0003g0024 a0001c0001t0003g0035 others(144): Show |
147 | 260 | 0.5654 | 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 | 215223241 | T | TAAAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG03654.hp2 HG04228.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0001t0019a0001c0001t0065others(3): Show | a0001c0001t0008g0185 a0001c0001t0019g0184 a0001c0001t0019g0187 others(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 | a0001c0001t0006g0154 a0001c0001t0006g0165 a0001c0001t0006g0188 others(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 | a0001c0001t0001g0010 a0001c0001t0001g0113 a0001c0001t0001g0133 others(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 | a0002c0002t0006g0002 a0002c0002t0007g0002 a0002c0002t0008g0002 others(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 | a0001c0001t0004g0006 a0001c0001t0012g0013 a0001c0005t0070g0014 others(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 |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0002g0042 a0001c0001t0003g0029 a0001c0001t0003g0054 others(12): Show |
15 | 106 | 0.1415 | 7 | c.809 others(26): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 5/27 | chr10 | TogoVar |