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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CALN1_chr7_71774491_72417338 | 72088749 | G | GGAAGGAA others(2): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02129.hp2 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0044 | a0001c0001t0001g0110 a0001c0001t0005g0009 a0001c0001t0044g0098 |
3 | 142 | 0.0211 | 9 | c.388 others(28): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 4/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72109882 | A | ATGGGTTA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00639.hp2 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0066 others(42): Show |
45 | 142 | 0.3169 | 9 | c.245 others(26): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72148412 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02717.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0034 | a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0118 others(2): Show |
5 | 129 | 0.0388 | 9 | c.245 others(28): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72230342 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 others(47): Show |
50 | 78 | 0.6410 | 9 | c.244 others(28): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72292820 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0047 others(52): Show |
55 | 61 | 0.9016 | 9 | c.120 others(28): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 2/6 | chr7 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12361248 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG04199.hp2 NA18942.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0028a0001c0001t0037others(5): Show | a0001c0001t0001g0015 a0001c0001t0001g0051 a0001c0001t0028g0099 others(6): Show |
9 | 40 | 0.2250 | 9 | c.92+ others(26): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12448057 | T | TTGGTCAG others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp2 others(56): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0172 others(56): Show |
59 | 214 | 0.2757 | 9 | c.92+ others(26): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12578570 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01106.hp2 HG01884.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0019others(11): Show | a0001c0001t0001g0071 a0001c0001t0006g0073 a0001c0001t0019g0086 others(13): Show |
16 | 76 | 0.2105 | 9 | c.224 others(28): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12595342 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01258.hp1 HG01981.hp1 HG02258.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0015 a0001c0001t0002g0088 a0001c0001t0003g0141 others(10): Show |
13 | 68 | 0.1912 | 9 | c.224 others(28): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12602895 | G | GTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01071.hp2 HG01099.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0002g0032 a0001c0001t0002g0041 a0001c0001t0002g0196 others(21): Show |
24 | 62 | 0.3871 | 9 | c.224 others(28): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12674599 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02717.hp1 HG03490.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0034a0001c0001t0039a0001c0001t0042others(2): Show | a0001c0001t0034g0083 a0001c0001t0039g0018 a0001c0001t0042g0085 others(2): Show |
5 | 47 | 0.1064 | 9 | c.299 others(26): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12717731 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02809.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0032a0001c0001t0040a0001c0001t0088others(2): Show | a0001c0001t0032g0042 a0001c0001t0040g0055 a0001c0001t0088g0087 others(2): Show |
5 | 31 | 0.1613 | 9 | c.300 others(28): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12764381 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00735.hp2 others(52): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0133 others(52): Show |
55 | 69 | 0.7971 | 9 | c.438 others(26): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12801341 | C | CTATCTAT others(2): Show |
intron_variant | MODIFIER | HG02273.hp2 NA18945.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009 | a0001c0001t0006g0187 a0001c0001t0009g0072 |
2 | 214 | 0.0093 | 9 | c.641 others(28): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12810151 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG01074.hp1 others(43): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(32): Show | a0001c0001t0001g0046 a0001c0001t0001g0133 a0001c0001t0004g0016 others(43): Show |
46 | 124 | 0.3710 | 9 | c.642 others(26): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12827301 | C | CTTTTTCT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00735.hp2 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0047 others(56): Show |
59 | 214 | 0.2757 | 9 | c.104 others(28): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK2D_chr4_113446032_113766738 | 113581519 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00597.hp1 others(26): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0068 a0001c0001t0001g0131 a0001c0001t0001g0140 others(26): Show |
29 | 276 | 0.1051 | 9 | c.275 others(28): Show |
CAMK2D | ENSG00000145349.20 | transcript | ENST00000511664.6 | protein_coding | 4/20 | chr4 | TogoVar | |||||||
CAMK2D_chr4_113446032_113766738 | 113581529 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03041.hp2 HG03098.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0016a0001c0001t0027a0001c0001t0065others(2): Show | a0001c0001t0016g0011 a0001c0001t0027g0103 a0001c0001t0065g0190 others(4): Show |
7 | 98 | 0.0714 | 9 | c.275 others(28): Show |
CAMK2D | ENSG00000145349.20 | transcript | ENST00000511664.6 | protein_coding | 4/20 | chr4 | TogoVar | |||||||
CAMK2D_chr4_113446032_113766738 | 113663590 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00544.hp1 others(44): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0076 others(44): Show |
47 | 221 | 0.2127 | 9 | c.161 others(26): Show |
CAMK2D | ENSG00000145349.20 | transcript | ENST00000511664.6 | protein_coding | 2/20 | chr4 | TogoVar | |||||||
CAMK2G_chr10_73807501_73879555 | 73820493 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG03654.hp1 NA19084.hp1 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 a0001c0001t0001g0206 a0001c0001t0001g0233 |
3 | 206 | 0.0146 | 9 | c.125 others(26): Show |
CAMK2G | ENSG00000148660.22 | transcript | ENST00000423381.6 | protein_coding | 18/22 | chr10 | TogoVar | |||||||
CAMK4_chr5_111219384_111499886 | 111396631 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG00733.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0097 a0001c0001t0002g0194 a0001c0001t0004g0016 others(18): Show |
21 | 34 | 0.6176 | 9 | c.459 others(26): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAMKK2_chr12_121232692_121301709 | 121264776 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01175.hp1 HG01243.hp1 others(15): Show |
a0001 | a0001c0001a0001c0007a0001c0008others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0007t0002others(9): Show | a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0003g0012 others(15): Show |
18 | 163 | 0.1104 | 9 | c.626 others(24): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 5/16 | chr12 | TogoVar | |||||||
CAMKMT_chr2_44356947_44777592 | 44366718 | G | GTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp2 others(57): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(57): Show |
60 | 195 | 0.3077 | 9 | c.138 others(26): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44634800 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp2 others(89): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0035 others(89): Show |
92 | 167 | 0.5509 | 9 | c.377 others(28): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMLG_chr5_134733548_134757157 | 134744527 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | NA18946.hp1 NA18963.hp1 NA18968.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0048 |
9 | 326 | 0.0276 | 9 | c.699 others(24): Show |
CAMLG | ENSG00000164615.6 | transcript | ENST00000297156.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAMSAP1_chr9_135803487_135912546 | 135892848 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01884.hp1 HG02257.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0010a0001c0001t0015others(3): Show | a0001c0001t0002g0196 a0001c0001t0002g0203 a0001c0001t0002g0204 others(11): Show |
14 | 94 | 0.1489 | 9 | c.161 others(26): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
CAMSAP2_chr1_200733893_200865704 | 200738940 | A | AGCGGCGG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(114): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(8): Show | a0001c0001t0002g0185 a0001c0001t0004g0011 a0001c0001t0004g0012 others(113): Show |
117 | 357 | 0.3277 | 9 | c.-87 others(18): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 1/17 | 870 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 6937795 | C | CCATCACC others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01243.hp1 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0013 others(30): Show |
33 | 58 | 0.5690 | 9 | c.234 others(30): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7013209 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00735.hp1 HG02004.hp1 others(9): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(9): Show | a0001c0001t0002g0036 a0001c0001t0003g0047 a0001c0001t0012g0051 others(9): Show |
12 | 31 | 0.3871 | 9 | c.235 others(28): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7284126 | G | GTTCTTCT others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03130.hp1 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0002a0001c0016t0024 | a0001c0001t0002g0009 a0001c0016t0024g0053 |
2 | 34 | 0.0588 | 9 | c.438 others(28): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAND1_chr12_67264358_67324953 | 67311230 | A | AGGTTTAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(124): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0020a0001c0001t0021a0001c0001t0062others(22): Show | a0001c0001t0020g0022 a0001c0001t0020g0037 a0001c0001t0020g0088 others(80): Show |
127 | 326 | 0.3896 | 9 | c.336 others(26): Show |
CAND1 | ENSG00000111530.13 | transcript | ENST00000545606.6 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 78987377 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00621.hp2 others(22): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0002a0001c0002t0007a0001c0002t0018others(2): Show | a0001c0002t0002g0009 a0001c0002t0002g0014 a0001c0002t0002g0032 others(18): Show |
25 | 165 | 0.1515 | 9 | c.*61 others(20): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 4338 | chr17 | TogoVar | |||||||
CAP1_chr1_40035729_40077648 | 40035891 | T | TAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 HG02622.hp1 HG02717.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0008a0001c0001t0012others(2): Show | a0001c0001t0003g0185 a0001c0001t0003g0202 a0001c0001t0003g0205 others(6): Show |
11 | 140 | 0.0786 | 9 | c.-49 others(20): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 4837 | chr1 | TogoVar | |||||||
CAP2_chr6_17388595_17562780 | 17440606 | C | CTGTGTGG others(2): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01952.hp2 HG03491.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 a0001c0001t0002g0120 a0001c0001t0002g0157 |
3 | 170 | 0.0176 | 9 | c.222 others(28): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38728410 | G | GCTCCTCC others(2): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 HG02572.hp1 HG03491.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0004 | a0001c0001t0001g0006 a0001c0001t0001g0104 a0001c0001t0001g0133 others(2): Show |
5 | 195 | 0.0256 | 9 | c.*24 others(20): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 1781 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38736008 | A | AGGTCTCG others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG02056.hp1 others(20): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(6): Show | a0001c0001t0001g0051 a0001c0001t0001g0066 a0001c0001t0001g0216 others(19): Show |
23 | 123 | 0.1870 | 9 | c.158 others(25): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38742850 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01891.hp1 HG01981.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(1): Show | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(5): Show |
8 | 119 | 0.0672 | 9 | c.307 others(24): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 2/20 | chr19 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 551155 | G | GGTGAGGG others(2): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 HG02717.hp1 others(1): Show |
a0001a0004a0008 | a0001c0001a0004c0018a0008c0024 | a0001c0001t0001a0004c0018t0001a0008c0024t0001others(1): Show | a0001c0001t0001g0388 a0004c0018t0001g0273 a0008c0024t0001g0386 others(1): Show |
4 | 386 | 0.0104 | 9 | c.206 others(26): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 7/13 | chr16 | TogoVar | |||||||
CAPN2_chr1_223707539_223781018 | 223720315 | C | CTCTCTTT others(2): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01993.hp2 HG02451.hp1 others(7): Show |
a0001a0004a0007 | a0001c0002a0001c0003a0001c0010others(2): Show | a0001c0002t0001a0001c0003t0002a0001c0010t0003others(2): Show | a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0003t0002g0317 others(5): Show |
10 | 54 | 0.1852 | 9 | c.307 others(26): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223741435 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0017 a0001c0002t0006g0323 a0001c0002t0006g0326 |
4 | 366 | 0.0109 | 9 | c.308 others(26): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CAPN5_chr11_77061971_77131155 | 77095255 | G | GCCACCAC others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(143): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0015others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0224 a0001c0001t0002g0003 a0001c0001t0002g0010 others(135): Show |
146 | 380 | 0.3842 | 9 | c.297 others(26): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPN6_chrX_111240099_111275483 | 111270389 | C | CCTGCTGC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02965.hp1 HG02976.hp2 HG06807.hp1 |
a0002 | a0002c0005a0002c0007 | a0002c0005t0007a0002c0007t0007 | a0002c0005t0007g0050 a0002c0005t0007g0052 a0002c0007t0007g0051 |
3 | 191 | 0.0157 | 9 | c.-43 others(16): Show |
CAPN6 | ENSG00000077274.9 | transcript | ENST00000324068.2 | protein_coding | 1/13 | 6454 | chrX | TogoVar | ||||||
CAPRIN2_chr12_30704553_30759951 | 30758010 | A | AAATATAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG01891.hp2 HG02258.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 a0002c0002t0001g0018 a0002c0002t0001g0132 others(4): Show |
8 | 196 | 0.0408 | 9 | c.-33 others(20): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 3060 | chr12 | TogoVar | |||||||
CAPS2_chr12_75270979_75335324 | 75290936 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(221): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(174): Show |
224 | 363 | 0.6171 | 9 | c.112 others(26): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 13/16 | chr12 | TogoVar | |||||||
CAPSL_chr5_35899288_35943622 | 35919170 | A | AAAAAAAT others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00733.hp1 HG01928.hp2 others(22): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0002 a0001c0001t0001g0036 a0001c0001t0001g0088 others(11): Show |
25 | 228 | 0.1096 | 9 | c.137 others(26): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
CAPS_chr19_5909254_5921211 | 5910675 | A | AAACAACA others(2): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 NA19012.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 62 | 0.0484 | 9 | c.-36 others(20): Show |
CAPS | ENSG00000105519.18 | transcript | ENST00000588776.8 | protein_coding | 3578 | chr19 | TogoVar | |||||||
CAPZA2_chr7_116857587_116927049 | 116880696 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02145.hp1 HG02145.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0023 | a0001c0001t0001g0244 a0001c0001t0002g0148 a0001c0001t0002g0149 others(7): Show |
10 | 13 | 0.7692 | 9 | c.40- others(24): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116904969 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00741.hp1 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0006others(4): Show | a0001c0002t0003g0018 a0001c0002t0003g0028 a0001c0002t0003g0031 others(13): Show |
18 | 239 | 0.0753 | 9 | c.426 others(24): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116919868 | A | AAATAATA others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01192.hp2 HG02004.hp1 NA19003.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0010 | a0001c0001t0010g0175 a0001c0002t0010g0303 a0001c0002t0010g0309 others(1): Show |
4 | 311 | 0.0129 | 9 | c.*20 others(20): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 10/10 | 2027 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAPZB_chr1_19333775_19490539 | 19363260 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG02040.hp2 others(15): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0002t0001g0062 a0001c0002t0001g0098 a0001c0002t0002g0279 others(15): Show |
18 | 112 | 0.1607 | 9 | c.330 others(26): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar |