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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP10A_chr15_25673712_25868327 | 25758236 | C | CCACCTGC others(2432): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0053 | a0053c0031 | a0053c0031t0001 | a0053c0031t0001g0108 | 1 | 300 | 0.0033 | 2439 | c.655 others(2458): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
BAHCC1_chr17_81390457_81471331 | 81426126 | A | AGTGGTGG others(2432): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0018 | a0018c0023 | a0018c0023t0015 | a0018c0023t0015g0277 | 1 | 332 | 0.0030 | 2439 | c.179 others(2454): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2432): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 410 | 0.0024 | 2439 | c.213 others(2456): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 6940912 | A | AGGGGGTC others(2432): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0009 | a0009c0011 | a0009c0011t0016 | a0009c0011t0016g0029 | 1 | 58 | 0.0172 | 2439 | c.234 others(2460): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 659547 | T | TGTGCACT others(2432): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 378 | 0.0027 | 2439 | c.*50 others(2450): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4652 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 659603 | G | GCATCCTG others(2432): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0259 | 1 | 378 | 0.0027 | 2439 | c.*49 others(2450): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4596 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 659603 | G | GCATCCTG others(2432): Show |
downstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0263 | 1 | 378 | 0.0027 | 2439 | c.*49 others(2450): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4596 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 659603 | G | GCATCCTG others(2432): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 378 | 0.0027 | 2439 | c.*49 others(2450): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4596 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 659603 | G | GCATCCTG others(2432): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0244 | 1 | 378 | 0.0027 | 2439 | c.*49 others(2450): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4596 | chr8 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2432): Show |
upstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 301 | 0.0033 | 2439 | c.-11 others(2450): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2432): Show |
upstream_gene_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 301 | 0.0033 | 2439 | c.-11 others(2450): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2432): Show |
upstream_gene_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 301 | 0.0033 | 2439 | c.-11 others(2450): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2432): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0096 | a0096c0126 | a0096c0126t0021 | a0096c0126t0021g0044 | 1 | 292 | 0.0034 | 2439 | c.218 others(2454): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952186 | G | GGTCAGAG others(2432): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0023 | 1 | 242 | 0.0041 | 2439 | c.360 others(2458): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2432): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG01361.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 4 | 375 | 0.0107 | 2439 | c.*44 others(2450): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2432): Show |
downstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 1 | 375 | 0.0027 | 2439 | c.*44 others(2450): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2432): Show |
downstream_gene_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 375 | 0.0027 | 2439 | c.*44 others(2450): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2432): Show |
downstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 1 | 375 | 0.0027 | 2439 | c.*44 others(2450): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2432): Show |
downstream_gene_variant | MODIFIER | NA18966.hp1 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018 | a0001c0001t0002g0000 a0001c0001t0018g0000 |
2 | 375 | 0.0053 | 2439 | c.*44 others(2450): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2432): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0011 | a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0011g0000 |
34 | 375 | 0.0907 | 2439 | c.*44 others(2450): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2432): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 375 | 0.0027 | 2439 | c.*44 others(2450): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2432): Show |
downstream_gene_variant | MODIFIER | NA18973.hp1 NA19010.hp1 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0000 a0001c0001t0009g0000 |
3 | 375 | 0.0080 | 2439 | c.*44 others(2450): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432057 | C | CAGGGTGG others(2432): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0111 | 1 | 376 | 0.0027 | 2439 | c.101 others(2456): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432164 | A | ACAGGGTG others(2432): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012 | 1 | 376 | 0.0027 | 2439 | c.101 others(2456): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(2432): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 126 | 0.0079 | 2439 | c.-28 others(2458): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 659547 | T | TGTGCACT others(2433): Show |
downstream_gene_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 378 | 0.0027 | 2440 | c.*50 others(2451): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4652 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 659603 | G | GCATCCTG others(2433): Show |
downstream_gene_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0261 | 1 | 378 | 0.0027 | 2440 | c.*49 others(2451): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4596 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 659603 | G | GCATCCTG others(2433): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0258 | 1 | 378 | 0.0027 | 2440 | c.*49 others(2451): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4596 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 659603 | G | GCATCCTG others(2433): Show |
downstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0281 | 1 | 378 | 0.0027 | 2440 | c.*49 others(2451): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4596 | chr8 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240185090 | C | CCCCTTCT others(2433): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0002 | a0002c0014 | a0002c0014t0002 | a0002c0014t0002g0054 | 1 | 174 | 0.0058 | 2440 | c.193 others(2459): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FOXP1_chr3_70949708_71588728 | 71435687 | G | GGGACGGA others(2433): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0025 | 1 | 96 | 0.0104 | 2440 | c.-16 others(2461): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2433): Show |
upstream_gene_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 301 | 0.0033 | 2440 | c.-11 others(2451): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2433): Show |
upstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 301 | 0.0033 | 2440 | c.-11 others(2451): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364368 | T | TACACCCA others(2433): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 290 | 0.0035 | 2440 | c.129 others(2459): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952763 | A | AGTCAGAG others(2433): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 242 | 0.0041 | 2440 | c.360 others(2459): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3976616 | C | CCACGCAG others(2433): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0005 | a0005c0057 | a0005c0057t0006 | a0005c0057t0006g0098 | 1 | 116 | 0.0086 | 2440 | c.199 others(2459): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3977040 | C | CCACGCAG others(2433): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0006 | a0006c0016 | a0006c0016t0001 | a0006c0016t0001g0114 | 1 | 116 | 0.0086 | 2440 | c.199 others(2459): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(2434): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 342 | 0.0029 | 2441 | c.366 others(2458): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117735550 | T | TGAAAAAA others(2434): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0013 | a0001c0013t0003 | a0001c0013t0003g0178 | 1 | 194 | 0.0052 | 2441 | c.511 others(2460): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(2434): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 170 | 0.0059 | 2441 | c.642 others(2458): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(2434): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 170 | 0.0059 | 2441 | c.642 others(2458): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 659603 | G | GCATCCTG others(2434): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 | 1 | 378 | 0.0027 | 2441 | c.*49 others(2452): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4596 | chr8 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2434): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 390 | 0.0026 | 2441 | c.972 others(2454): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2434): Show |
upstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 301 | 0.0033 | 2441 | c.-11 others(2452): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2434): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 301 | 0.0033 | 2441 | c.-11 others(2452): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2434): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0088 | 1 | 116 | 0.0086 | 2441 | c.522 others(2458): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2434): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0037 | 1 | 116 | 0.0086 | 2441 | c.522 others(2458): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLIN3_chr19_4833341_4872667 | 4872410 | C | CTTTTTTT others(2434): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0430 | 1 | 446 | 0.0022 | 2441 | c.-48 others(2452): Show |
PLIN3 | ENSG00000105355.9 | transcript | ENST00000221957.9 | protein_coding | 4744 | chr19 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246325070 | G | GGGGGGCG others(2434): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0121 | 1 | 150 | 0.0067 | 2441 | c.531 others(2458): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20038315 | A | AACTTTTT others(2434): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01258.hp1 |
a0003 | a0003c0007 | a0003c0007t0003a0003c0007t0016 | a0003c0007t0003g0076 a0003c0007t0016g0073 |
2 | 250 | 0.0080 | 2441 | c.-22 others(2460): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |