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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CABLES2_chr20_62383634_62412285 | 62407282 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02165.hp2 | a0002 | a0002c0003 | a0002c0003t0033 | a0002c0003t0033g0226 | 1 | 398 | 0.0025 | 0 | c.-6C others(2): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/10 | chr20 | TogoVar | |||||||
CACFD1_chr9_133454978_133475848 | 133460001 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0093 | 1 | 418 | 0.0024 | 0 | c.-66 others(3): Show |
CACFD1 | ENSG00000160325.15 | transcript | ENST00000316948.9 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
CACHD1_chr1_64465129_64698053 | 64470200 | T | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01192.hp1 HG02572.hp1 HG02723.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0011a0001c0002t0004 | a0001c0001t0004g0002 a0001c0001t0004g0004 a0001c0001t0004g0005 others(9): Show |
12 | 164 | 0.0732 | 0 | c.-54 others(4): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/27 | chr1 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82443516 | T | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0144 | 1 | 142 | 0.0070 | 0 | c.-57 others(3): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/39 | chr7 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54122647 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02109.hp1 | a0001 | a0001c0012 | a0001c0012t0011 | a0001c0012t0011g0036 | 1 | 116 | 0.0086 | 0 | c.-67 others(3): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 1/38 | chr3 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18140454 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00408.hp2 HG00438.hp2 HG00609.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0004a0001c0001t0009a0001c0001t0052others(7): Show | a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0152 others(24): Show |
27 | 200 | 0.1350 | 0 | c.-28 others(4): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18140611 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0009 | 1 | 200 | 0.0050 | 0 | c.-12 others(4): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36703350 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0111 | a0001c0001t0111g0213 | 1 | 212 | 0.0047 | 0 | c.-77 others(4): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/4 | chr22 | TogoVar | |||||||
CACNG5_chr17_66830117_66899751 | 66835118 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02647.hp2 | a0001 | a0001c0003 | a0001c0003t0046 | a0001c0003t0046g0284 | 1 | 370 | 0.0027 | 0 | c.-23 others(4): Show |
CACNG5 | ENSG00000075429.9 | transcript | ENST00000533854.6 | protein_coding | 1/6 | chr17 | TogoVar | |||||||
CADM2_chr3_84953989_86079429 | 84959360 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01074.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0126 a0001c0001t0021g0127 |
2 | 146 | 0.0137 | 0 | c.-24 others(4): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/10 | chr3 | TogoVar | |||||||
CADM3_chr1_159166615_159208313 | 159171643 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0105 | 1 | 374 | 0.0027 | 0 | c.-12 others(4): Show |
CADM3 | ENSG00000162706.13 | transcript | ENST00000368125.9 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
CAGE1_chr6_7321659_7394742 | 7389581 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02155.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0243 | 1 | 358 | 0.0028 | 0 | c.-40 others(4): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 1/14 | chr6 | TogoVar | |||||||
CALCOCO1_chr12_53703517_53732452 | 53727407 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01891.hp2 | a0001 | a0001c0004 | a0001c0004t0046 | a0001c0004t0046g0061 | 1 | 426 | 0.0023 | 0 | c.-28 others(3): Show |
CALCOCO1 | ENSG00000012822.16 | transcript | ENST00000550804.6 | protein_coding | 1/15 | chr12 | TogoVar | |||||||
CALCOCO2_chr17_48826035_48870245 | 48831043 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18946.hp2 | a0004 | a0004c0004 | a0004c0004t0031 | a0004c0004t0031g0085 | 1 | 326 | 0.0031 | 0 | c.-46 others(3): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
CALCR_chr7_93419486_93579724 | 93574309 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0288 | 1 | 290 | 0.0034 | 0 | c.-47 others(3): Show |
CALCR | ENSG00000004948.16 | transcript | ENST00000426151.7 | protein_coding | 2/14 | chr7 | TogoVar | |||||||
CALHM3_chr10_103467804_103484240 | 103479060 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0047 | 1 | 448 | 0.0022 | 0 | c.-28 others(3): Show |
CALHM3 | ENSG00000183128.7 | transcript | ENST00000369783.4 | protein_coding | 1/3 | chr10 | TogoVar | |||||||
CALM1_chr14_90392029_90413268 | 90397063 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02559.hp2 HG02572.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0013 | 3 | 406 | 0.0074 | 0 | c.-16 others(4): Show |
CALM1 | ENSG00000198668.14 | transcript | ENST00000356978.9 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
CALM1_chr14_90392029_90413268 | 90397070 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02109.hp1 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0002 | 2 | 406 | 0.0049 | 0 | c.-16 others(4): Show |
CALM1 | ENSG00000198668.14 | transcript | ENST00000356978.9 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
CALML4_chr15_68185705_68210332 | 68205259 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00438.hp2 HG01255.hp2 HG01891.hp1 others(41): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0009a0001c0001t0012others(4): Show | a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0047 others(31): Show |
44 | 384 | 0.1146 | 0 | c.-12 others(3): Show |
CALML4 | ENSG00000129007.16 | transcript | ENST00000467889.3 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
CALML4_chr15_68185705_68210332 | 68205295 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18955.hp2 NA18967.hp1 NA19055.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0027 | 3 | 384 | 0.0078 | 0 | c.-48 others(3): Show |
CALML4 | ENSG00000129007.16 | transcript | ENST00000467889.3 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
CALML5_chr10_5493697_5504570 | 5499461 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0000 | 1 | 442 | 0.0023 | 0 | c.-23 others(3): Show |
CALML5 | ENSG00000178372.8 | transcript | ENST00000380332.5 | protein_coding | 1/1 | chr10 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72412101 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0127 | 1 | 142 | 0.0070 | 0 | c.-11 others(4): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72412144 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0137 | 1 | 142 | 0.0070 | 0 | c.-16 others(4): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72412216 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02895.hp1 HG02897.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0023 | a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0001t0023g0002 |
3 | 142 | 0.0211 | 0 | c.-23 others(4): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72412292 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02257.hp2 HG02622.hp2 HG02630.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0053a0001c0001t0054a0001c0001t0055others(1): Show | a0001c0001t0053g0135 a0001c0001t0054g0136 a0001c0001t0055g0134 others(1): Show |
4 | 142 | 0.0282 | 0 | c.-30 others(4): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72412306 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02145.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0058a0001c0001t0059 | a0001c0001t0058g0139 a0001c0001t0059g0140 |
2 | 142 | 0.0141 | 0 | c.-32 others(4): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
CALR_chr19_12933609_12949489 | 12938631 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0049 | 1 | 347 | 0.0029 | 0 | c.-49 others(3): Show |
CALR | ENSG00000179218.15 | transcript | ENST00000316448.10 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
CALR_chr19_12933609_12949489 | 12938659 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01123.hp1 HG02280.hp2 HG02451.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0032 others(7): Show |
26 | 348 | 0.0747 | 0 | c.-21 others(3): Show |
CALR | ENSG00000179218.15 | transcript | ENST00000316448.10 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
CALR_chr19_12933609_12949489 | 12938676 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02129.hp1 NA18969.hp1 NA18982.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0006g0006 |
4 | 348 | 0.0115 | 0 | c.-4C others(2): Show |
CALR | ENSG00000179218.15 | transcript | ENST00000316448.10 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
CAMK1_chr3_9752347_9774947 | 9767765 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0052 | 1 | 424 | 0.0024 | 0 | c.-16 others(3): Show |
CAMK1 | ENSG00000134072.11 | transcript | ENST00000256460.8 | protein_coding | 2/12 | chr3 | TogoVar | |||||||
CAMK2N1_chr1_20477391_20491210 | 20485624 | T | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0046 | 1 | 420 | 0.0024 | 0 | c.-24 others(4): Show |
CAMK2N1 | ENSG00000162545.6 | transcript | ENST00000375078.4 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
CAMK2N1_chr1_20477391_20491210 | 20485629 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0046 | 1 | 420 | 0.0024 | 0 | c.-25 others(4): Show |
CAMK2N1 | ENSG00000162545.6 | transcript | ENST00000375078.4 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
CAMK2N1_chr1_20477391_20491210 | 20485651 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0046 | 1 | 420 | 0.0024 | 0 | c.-27 others(4): Show |
CAMK2N1 | ENSG00000162545.6 | transcript | ENST00000375078.4 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
CAMK2N1_chr1_20477391_20491210 | 20485653 | T | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0046 | 1 | 420 | 0.0024 | 0 | c.-27 others(4): Show |
CAMK2N1 | ENSG00000162545.6 | transcript | ENST00000375078.4 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
CAMK2N1_chr1_20477391_20491210 | 20485709 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0046 | 1 | 420 | 0.0024 | 0 | c.-33 others(4): Show |
CAMK2N1 | ENSG00000162545.6 | transcript | ENST00000375078.4 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
CAMK2N1_chr1_20477391_20491210 | 20485762 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0046 | 1 | 420 | 0.0024 | 0 | c.-38 others(4): Show |
CAMK2N1 | ENSG00000162545.6 | transcript | ENST00000375078.4 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
CAMK2N1_chr1_20477391_20491210 | 20486181 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0047 | 1 | 420 | 0.0024 | 0 | c.-80 others(4): Show |
CAMK2N1 | ENSG00000162545.6 | transcript | ENST00000375078.4 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
CAMK4_chr5_111219384_111499886 | 111224390 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0146 | a0001c0001t0146g0234 | 1 | 244 | 0.0041 | 0 | c.-94 others(3): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
CAMKK2_chr12_121232692_121301709 | 121296685 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02809.hp2 | a0002 | a0002c0015 | a0002c0015t0023 | a0002c0015t0023g0328 | 1 | 328 | 0.0030 | 0 | c.-10 others(4): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 1/17 | chr12 | TogoVar | |||||||
CAMSAP1_chr9_135803487_135912546 | 135907181 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0339 | 1 | 338 | 0.0030 | 0 | c.-22 others(3): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 1/17 | chr9 | TogoVar | |||||||
CAMSAP2_chr1_200733893_200865704 | 200739537 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0309 | 1 | 364 | 0.0027 | 0 | c.-29 others(4): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
CAMTA2_chr17_4962997_4992675 | 4987637 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(46): Show |
a0001a0010a0013 | a0001c0001a0001c0003a0001c0014others(2): Show | a0001c0001t0003a0001c0003t0003a0001c0003t0004others(3): Show | a0001c0001t0003g0049 a0001c0001t0003g0052 a0001c0003t0003g0003 others(18): Show |
49 | 378 | 0.1296 | 0 | c.-10 others(4): Show |
CAMTA2 | ENSG00000108509.21 | transcript | ENST00000348066.8 | protein_coding | 1/23 | chr17 | TogoVar | |||||||
CAND1_chr12_67264358_67324953 | 67269428 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp2 HG00639.hp2 HG01261.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0020a0001c0001t0021a0001c0001t0065others(5): Show | a0001c0001t0020g0022 a0001c0001t0020g0037 a0001c0001t0020g0088 others(13): Show |
18 | 326 | 0.0552 | 0 | c.-29 others(4): Show |
CAND1 | ENSG00000111530.13 | transcript | ENST00000545606.6 | protein_coding | 1/15 | chr12 | TogoVar | |||||||
CANX_chr5_179693967_179736641 | 179699009 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18956.hp1 NA18988.hp1 NA19070.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0036 | a0001c0001t0010g0006 a0001c0001t0010g0147 a0001c0001t0036g0219 |
5 | 378 | 0.0132 | 0 | c.-97 others(3): Show |
CANX | ENSG00000127022.16 | transcript | ENST00000247461.9 | protein_coding | 1/15 | chr5 | TogoVar | |||||||
CAPG_chr2_85389753_85415366 | 85410326 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02886.hp2 HG02895.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0226 a0001c0003t0002g0227 |
2 | 408 | 0.0049 | 0 | c.-23 others(3): Show |
CAPG | ENSG00000042493.16 | transcript | ENST00000263867.9 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
CAPN14_chr2_31168056_31222515 | 31217463 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(111): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0011a0001c0021others(15): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0014others(23): Show | a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0010 others(101): Show |
114 | 324 | 0.3519 | 0 | c.-60 others(3): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
CAPN14_chr2_31168056_31222515 | 31217505 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18980.hp2 | a0001 | a0001c0003 | a0001c0003t0032 | a0001c0003t0032g0278 | 1 | 324 | 0.0031 | 0 | c.-10 others(4): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 536125 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02486.hp1 | a0001 | a0001c0005 | a0001c0005t0033 | a0001c0005t0033g0251 | 1 | 408 | 0.0025 | 0 | c.-40 others(3): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/14 | chr16 | TogoVar | |||||||
CAPN5_chr11_77061971_77131155 | 77066988 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02523.hp1 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0053a0001c0001t0054 | a0001c0001t0053g0323 a0001c0001t0054g0307 |
2 | 380 | 0.0053 | 0 | c.-14 others(4): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 1/13 | chr11 | TogoVar | |||||||
CAPN9_chr1_230742388_230806989 | 230747436 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01106.hp2 | a0004 | a0004c0007 | a0004c0007t0006 | a0004c0007t0006g0298 | 1 | 392 | 0.0026 | 0 | c.-61 others(3): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1/20 | chr1 | TogoVar |