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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HPCAL1_chr2_10297904_10432604 | 10399408 | A | ATCACCAT others(1877): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 302 | 0.0033 | 1884 | c.-25 others(1901): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(1877): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0073 | a0001c0073t0001 | a0001c0073t0001g0218 | 1 | 34 | 0.0294 | 1884 | c.299 others(1899): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1877): Show |
downstream_gene_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 210 | 0.0048 | 1884 | c.*22 others(1895): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
RAB2A_chr8_60511987_60628644 | 60567703 | A | AGGCCTTA others(1877): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0330 | 1 | 326 | 0.0031 | 1884 | c.119 others(1901): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60567703 | A | AGGCCTTA others(1877): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0347 | 1 | 326 | 0.0031 | 1884 | c.119 others(1901): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60567703 | A | AGGCCTTA others(1877): Show |
intron_variant | MODIFIER | HG03471.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0339 a0001c0001t0004g0340 |
2 | 327 | 0.0061 | 1884 | c.119 others(1901): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130646430 | T | TCCACCTC others(1877): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0044 | a0001c0044t0001 | a0001c0044t0001g0067 | 1 | 90 | 0.0111 | 1884 | c.-35 others(1905): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(1877): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0063 | a0002c0063t0020 | a0002c0063t0020g0001 | 1 | 4 | 0.2500 | 1884 | c.291 others(1903): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(1877): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02717.hp1 HG02723.hp1 others(6): Show |
a0001 | a0001c0009a0001c0020a0001c0045others(3): Show | a0001c0009t0005a0001c0009t0078a0001c0020t0048others(6): Show | a0001c0009t0005g0143 a0001c0009t0078g0021 a0001c0020t0048g0097 others(6): Show |
9 | 12 | 0.7500 | 1884 | c.291 others(1903): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1049898 | A | AGCCCCCC others(1878): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 1 | 28 | 0.0357 | 1885 | c.255 others(1902): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54561736 | A | ACCCCCCA others(1878): Show |
intron_variant | MODIFIER | HG01175.hp2 NA21309.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0004 | a0001c0001t0002g0384 a0002c0002t0004g0334 |
2 | 343 | 0.0058 | 1885 | c.33+ others(1902): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1878): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02970.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0006 | a0001c0001t0006g0037 a0001c0003t0006g0109 |
2 | 90 | 0.0222 | 1885 | c.128 others(1900): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1878): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 | 1 | 89 | 0.0112 | 1885 | c.128 others(1900): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37585358 | G | GAGGAGGG others(1878): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0004 | a0004c0008 | a0004c0008t0002 | a0004c0008t0002g0299 | 1 | 322 | 0.0031 | 1885 | c.-22 others(1902): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1329453 | A | ACTGCTTG others(1878): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0290 | 1 | 364 | 0.0027 | 1885 | c.108 others(1902): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1878): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0030 | 1 | 13 | 0.0769 | 1885 | c.109 others(1904): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DAAM2_chr6_39787376_39909869 | 39845369 | A | AACCCCAT others(1878): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0012 | a0012c0041 | a0012c0041t0014 | a0012c0041t0014g0147 | 1 | 73 | 0.0137 | 1885 | c.-56 others(1904): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(1878): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0056 | 1 | 4 | 0.2500 | 1885 | c.972 others(1898): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218343 | C | CCCCCAAC others(1878): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 103 | 0.0097 | 1885 | c.*28 others(1896): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1174 | chr8 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCTCTCCC others(1878): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0015 | a0001c0015t0005 | a0001c0015t0005g0141 | 1 | 17 | 0.0588 | 1885 | c.*11 others(1906): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAP3K19_chr2_134959491_135052447 | 135033467 | C | CCCCGGAC others(1878): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0120 | 1 | 202 | 0.0050 | 1885 | c.-28 others(1904): Show |
MAP3K19 | ENSG00000176601.14 | transcript | ENST00000392915.7 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
NFIA_chr1_61077561_61467788 | 61393244 | C | CCTCTCTC others(1878): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0135 | 1 | 48 | 0.0208 | 1885 | c.107 others(1904): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393256 | T | TCTCTCTC others(1878): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0065 | 1 | 150 | 0.0067 | 1885 | c.107 others(1904): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(1878): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0052 | a0052c0102 | a0052c0102t0001 | a0052c0102t0001g0253 | 1 | 34 | 0.0294 | 1885 | c.299 others(1900): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
SART1_chr11_65956734_65985137 | 65971210 | T | TGAGGAGG others(1878): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0256 | 1 | 376 | 0.0027 | 1885 | c.157 others(1904): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SSU72L2_chr11_4236641_4247706 | 4241115 | T | TAAATAAA others(1878): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 364 | 0.0027 | 1885 | c.*94 others(1894): Show |
SSU72L2 | ENSG00000284306.2 | transcript | ENST00000640805.2 | protein_coding | 525 | chr11 | TogoVar | |||||||
ST3GAL3_chr1_43702536_43936159 | 43904942 | C | CCTCCCCC others(1878): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0151 | 1 | 32 | 0.0313 | 1885 | c.744 others(1902): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(1878): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 146 | 0.0068 | 1885 | c.114 others(1902): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
WWP2_chr16_69757332_69946739 | 69820725 | T | TTATTTTA others(1878): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0252 | 1 | 241 | 0.0041 | 1885 | c.341 others(1904): Show |
WWP2 | ENSG00000198373.13 | transcript | ENST00000359154.7 | protein_coding | 4/23 | chr16 | TogoVar | |||||||
ACOT11_chr1_54543228_54615329 | 54561736 | A | ACCCCCCA others(1879): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0057 | 1 | 342 | 0.0029 | 1886 | c.33+ others(1903): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54561736 | A | ACCCCCCA others(1879): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0383 | 1 | 342 | 0.0029 | 1886 | c.33+ others(1903): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1879): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0168 | 1 | 89 | 0.0112 | 1886 | c.128 others(1901): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647413 | A | AATCCTCC others(1879): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0024 | 1 | 229 | 0.0044 | 1886 | c.*52 others(1897): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2069 | chr15 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 477345 | A | AGGGGGGA others(1879): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0020 | a0001c0020t0008 | a0001c0020t0008g0074 | 1 | 37 | 0.0270 | 1886 | c.158 others(1903): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(1879): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0157 | 1 | 295 | 0.0034 | 1886 | c.522 others(1901): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(1879): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0068 | 1 | 295 | 0.0034 | 1886 | c.522 others(1901): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(1879): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0117 | 1 | 295 | 0.0034 | 1886 | c.522 others(1901): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(1879): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0065 | 1 | 295 | 0.0034 | 1886 | c.522 others(1901): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGA others(1879): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0138 | 1 | 15 | 0.0667 | 1886 | c.-5+ others(1899): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393244 | C | CCTCTCTC others(1879): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 48 | 0.0208 | 1886 | c.107 others(1905): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(1879): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 43 | 0.0233 | 1886 | c.-12 others(1907): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289515 | G | GTCTCTGC others(1879): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0219 | 1 | 109 | 0.0092 | 1886 | c.166 others(1903): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870169 | A | ACACCCCA others(1879): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 | 1 | 305 | 0.0033 | 1886 | c.*35 others(1905): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ZNF404_chr19_43867365_43888964 | 43873778 | G | GGTGCAAA others(1879): Show |
frameshift_variant others(1): Show |
HIGH | HG03041.hp2 NA19043.hp2 |
a0004 | a0004c0010 | a0004c0010t0003 | a0004c0010t0003g0029 | 2 | 364 | 0.0055 | 1886 | c.435 others(1893): Show |
p.Leu others(5): Show |
ZNF404 | ENSG00000176222.10 | transcript | ENST00000587539.2 | protein_coding | 3/3 | 435/1849 | 435/1659 | 145/552 | chr19 | TogoVar | |||
ACOT11_chr1_54543228_54615329 | 54561736 | A | ACCCCCCA others(1880): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0323 | 1 | 342 | 0.0029 | 1887 | c.33+ others(1904): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54561736 | A | ACCCCCCA others(1880): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0382 | 1 | 342 | 0.0029 | 1887 | c.33+ others(1904): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714890 | T | TAACCACT others(1880): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0007 | a0001c0007t0015 | a0001c0007t0015g0097 | 1 | 241 | 0.0041 | 1887 | c.127 others(1904): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(1880): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0298 | 1 | 173 | 0.0058 | 1887 | c.127 others(1904): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1880): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 89 | 0.0112 | 1887 | c.128 others(1902): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1880): Show |
intron_variant | MODIFIER | HG03831.hp1 NA18939.hp2 NA18950.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0001 | a0001c0001t0001g0183 a0001c0001t0001g0337 a0001c0001t0001g0338 others(2): Show |
5 | 93 | 0.0538 | 1887 | c.128 others(1902): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar |