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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CBFA2T3_chr16_88869858_88982207 | 88915841 | T | TCAGTCAG others(6394): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 284 | 0.0035 | 6401 | c.152 others(6420): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(6394): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 274 | 0.0037 | 6401 | c.179 others(6420): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PRKX_chrX_3599340_3718649 | 3639432 | T | TGGGGGTG others(6394): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0180 | 1 | 227 | 0.0044 | 6401 | c.719 others(6418): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 4/8 | chrX | TogoVar | |||||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(6398): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0002 | a0002c0003 | a0002c0003t0023 | a0002c0003t0023g0138 | 1 | 289 | 0.0035 | 6405 | c.228 others(6426): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(6398): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0135 | 1 | 289 | 0.0035 | 6405 | c.228 others(6426): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(6398): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0127 | 1 | 289 | 0.0035 | 6405 | c.228 others(6426): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(6398): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0148 | 1 | 289 | 0.0035 | 6405 | c.228 others(6426): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EPPK1_chr8_143852324_143883467 | 143862162 | C | CGGCGGCG others(6401): Show |
stop_gained others(1): Show |
HIGH | HG02109.hp1 | a0118 | a0118c0345 | a0118c0345t0009 | a0118c0345t0009g0034 | 1 | 424 | 0.0024 | 6408 | c.110 others(6419): Show |
p.Ala others(6423): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11166/16005 | 11091/15267 | 3697/5088 | chr8 | TogoVar | |||
FAM120B_chr6_170301758_170412067 | 170377868 | C | CGGCTCAC others(6401): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0002 | a0002c0003 | a0002c0003t0021 | a0002c0003t0021g0113 | 1 | 289 | 0.0035 | 6408 | c.228 others(6429): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811226 | T | TAACCCTC others(6404): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0006 | 1 | 178 | 0.0056 | 6411 | c.773 others(6426): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | TogoVar | |||||||
EPPK1_chr8_143852324_143883467 | 143865718 | G | GTCTGGGC others(6410): Show |
disruptive_inframe_insertion | MODERATE | HG01106.hp1 | a0080 | a0080c0074 | a0080c0074t0002 | a0080c0074t0002g0195 | 1 | 424 | 0.0024 | 6417 | c.753 others(6426): Show |
p.Pro others(6432): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 7610/16005 | 7535/15267 | 2512/5088 | chr8 | TogoVar | |||
SERINC2_chr1_31408213_31439678 | 31432111 | T | TAGGGTGG others(6410): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0074 | 1 | 376 | 0.0027 | 6417 | c.101 others(6434): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251133 | T | TCCCCCAC others(6411): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044 | 1 | 116 | 0.0086 | 6418 | c.207 others(6437): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
STARD7_chr2_96179859_96213827 | 96197066 | C | CAAACTAA others(6417): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0047 | 1 | 358 | 0.0028 | 6424 | c.291 others(6441): Show |
STARD7 | ENSG00000084090.14 | transcript | ENST00000337288.10 | protein_coding | 1/7 | chr2 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432165 | T | TAGGGTGG others(6428): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0353 | 1 | 376 | 0.0027 | 6435 | c.101 others(6452): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294622 | A | AGCCACGC others(6431): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0222 | 1 | 404 | 0.0025 | 6438 | c.340 others(6455): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ARFRP1_chr20_63693647_63712976 | 63693708 | A | ACCACCTC others(6436): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 296 | 0.0034 | 6443 | c.*67 others(6454): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4938 | chr20 | TogoVar | |||||||
FAM120B_chr6_170301758_170412067 | 170399756 | G | GAAGGTAG others(6441): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0203 | 1 | 289 | 0.0035 | 6448 | c.269 others(6467): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586551 | A | AGGGGAAA others(6444): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0016 | a0001c0003t0016g0250 | 1 | 308 | 0.0033 | 6451 | c.157 others(6468): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35914283 | A | AGTGTGTG others(6444): Show |
downstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 420 | 0.0024 | 6451 | c.*35 others(6462): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2598 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328332 | T | TACACCCA others(6447): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0010 | a0010c0011 | a0010c0011t0001 | a0010c0011t0001g0006 | 1 | 82 | 0.0122 | 6454 | c.199 others(6473): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586254 | C | CAGTGGGG others(6448): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0155 | 1 | 308 | 0.0033 | 6455 | c.157 others(6470): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(6453): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0320 | 1 | 328 | 0.0031 | 6460 | c.225 others(6477): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(6453): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0261 | 1 | 328 | 0.0031 | 6460 | c.225 others(6477): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(6453): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0282 | 1 | 328 | 0.0031 | 6460 | c.225 others(6477): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(6453): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0257 | 1 | 328 | 0.0031 | 6460 | c.225 others(6477): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
PTGFR_chr1_78485974_78545701 | 78489055 | G | GGGAGAAA others(6458): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 HG02965.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0029 | a0001c0001t0001g0338 a0001c0001t0004g0337 a0001c0001t0029g0339 |
3 | 386 | 0.0078 | 6465 | c.-22 others(6476): Show |
PTGFR | ENSG00000122420.10 | transcript | ENST00000370757.8 | protein_coding | 1918 | chr1 | TogoVar | |||||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(6459): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0124 | 1 | 289 | 0.0035 | 6466 | c.228 others(6487): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(6459): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0123 | 1 | 289 | 0.0035 | 6466 | c.228 others(6487): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(6459): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0108 | 1 | 289 | 0.0035 | 6466 | c.228 others(6487): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PTGFR_chr1_78485974_78545701 | 78489055 | G | GGGAGAAA others(6459): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02486.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008 | a0001c0001t0001g0242 a0001c0001t0001g0285 a0001c0001t0001g0340 others(3): Show |
6 | 386 | 0.0155 | 6466 | c.-22 others(6477): Show |
PTGFR | ENSG00000122420.10 | transcript | ENST00000370757.8 | protein_coding | 1918 | chr1 | TogoVar | |||||||
PTGFR_chr1_78485974_78545701 | 78489055 | G | GGGAGAAA others(6459): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0329 | 1 | 386 | 0.0026 | 6466 | c.-22 others(6477): Show |
PTGFR | ENSG00000122420.10 | transcript | ENST00000370757.8 | protein_coding | 1918 | chr1 | TogoVar | |||||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(6460): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0117 | 1 | 289 | 0.0035 | 6467 | c.228 others(6488): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PTGFR_chr1_78485974_78545701 | 78489055 | G | GGGAGAAA others(6460): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 3 | 386 | 0.0078 | 6467 | c.-22 others(6478): Show |
PTGFR | ENSG00000122420.10 | transcript | ENST00000370757.8 | protein_coding | 1918 | chr1 | TogoVar | |||||||
PTGFR_chr1_78485974_78545701 | 78489055 | G | GGGAGAAA others(6461): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0327 | 1 | 386 | 0.0026 | 6468 | c.-22 others(6479): Show |
PTGFR | ENSG00000122420.10 | transcript | ENST00000370757.8 | protein_coding | 1918 | chr1 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(6462): Show |
upstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 251 | 0.0040 | 6469 | c.-45 others(6478): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
MORN1_chr1_2316253_2396554 | 2325131 | C | CCTTCCTT others(6462): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 80 | 0.0125 | 6469 | c.125 others(6486): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
ARFRP1_chr20_63693647_63712976 | 63693732 | T | TGCCACCT others(6467): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0055 | 1 | 296 | 0.0034 | 6474 | c.*67 others(6485): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4914 | chr20 | TogoVar | |||||||
DYNC2I1_chr7_158851558_158951189 | 158917089 | T | TACACGCT others(6467): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 274 | 0.0037 | 6474 | c.179 others(6493): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TNFRSF6B_chr20_63691652_63703684 | 63693732 | T | TGCCACCT others(6467): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 33 | 0.0303 | 6474 | c.-30 others(6485): Show |
TNFRSF6B | ENSG00000243509.6 | transcript | ENST00000369996.3 | protein_coding | 2919 | chr20 | TogoVar | |||||||
PTGFR_chr1_78485974_78545701 | 78489055 | G | GGGAGAAA others(6468): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 | a0005 | a0005c0006 | a0005c0006t0032 | a0005c0006t0032g0143 | 1 | 386 | 0.0026 | 6475 | c.-22 others(6486): Show |
PTGFR | ENSG00000122420.10 | transcript | ENST00000370757.8 | protein_coding | 1918 | chr1 | TogoVar | |||||||
PTGFR_chr1_78485974_78545701 | 78489055 | G | GGGAGAAA others(6468): Show |
upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0031 | a0001c0002t0031g0322 | 1 | 386 | 0.0026 | 6475 | c.-22 others(6486): Show |
PTGFR | ENSG00000122420.10 | transcript | ENST00000370757.8 | protein_coding | 1918 | chr1 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364469 | A | ACTTACAC others(6469): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0217 | 1 | 290 | 0.0035 | 6476 | c.129 others(6493): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586499 | C | CGGAGGGG others(6472): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0240 | 1 | 308 | 0.0033 | 6479 | c.157 others(6496): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
FAM120B_chr6_170301758_170412067 | 170399756 | G | GAAGGTAG others(6478): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 289 | 0.0035 | 6485 | c.269 others(6504): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170398553 | A | AAAGGTAG others(6480): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0214 | 1 | 289 | 0.0035 | 6487 | c.269 others(6506): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3654618 | A | GTCCTCAC others(6481): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 394 | 0.0025 | 6488 | c.-52 others(6505): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(6491): Show |
conservative_inframe_insertion | MODERATE | HG02155.hp1 | a0001 | a0001c0174 | a0001c0174t0001 | a0001c0174t0001g0181 | 1 | 342 | 0.0029 | 6498 | c.138 others(6509): Show |
p.Thr others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(6491): Show |
conservative_inframe_insertion | MODERATE | HG00140.hp2 HG01099.hp2 HG02280.hp2 |
a0001 | a0001c0027a0001c0192 | a0001c0027t0001a0001c0192t0001 | a0001c0027t0001g0141 a0001c0027t0001g0239 a0001c0192t0001g0201 |
3 | 342 | 0.0088 | 6498 | c.138 others(6509): Show |
p.Thr others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(6491): Show |
conservative_inframe_insertion | MODERATE | HG03704.hp2 NA19081.hp1 NA20905.hp2 |
a0102a0121a0125 | a0102c0144a0121c0267a0125c0269 | a0102c0144t0001a0121c0267t0001a0125c0269t0001 | a0102c0144t0001g0212 a0121c0267t0001g0207 a0125c0269t0001g0105 |
3 | 342 | 0.0088 | 6498 | c.138 others(6509): Show |
p.Thr others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |