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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CELF4_chr18_37238040_37570798 | 37283949 | T | TATAGCCC others(1027): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0003 | a0001c0003t0035 | a0001c0003t0035g0111 | 1 | 39 | 0.0256 | 1034 | c.449 others(1051): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 3/12 | chr18 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1027): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0115 | 1 | 8 | 0.1250 | 1034 | c.328 others(1051): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1027): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0212 | 1 | 8 | 0.1250 | 1034 | c.328 others(1051): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1027): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01109.hp1 HG01123.hp2 others(33): Show |
a0001a0003a0006others(6): Show | a0001c0017a0001c0035a0003c0004others(12): Show | a0001c0017t0002a0001c0035t0002a0003c0004t0002others(13): Show | a0001c0017t0002g0026 a0001c0017t0002g0027 a0001c0017t0002g0073 others(33): Show |
36 | 43 | 0.8372 | 1034 | c.328 others(1051): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1027): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0083 | 1 | 8 | 0.1250 | 1034 | c.328 others(1051): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929386 | A | AGGGGACA others(1027): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0074 | 1 | 275 | 0.0036 | 1034 | c.328 others(1051): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929391 | A | ACAGGTCT others(1027): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0082 | 1 | 273 | 0.0037 | 1034 | c.328 others(1051): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438425 | A | AAGGAGGA others(1027): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0040 | a0040c0070 | a0040c0070t0001 | a0040c0070t0001g0019 | 1 | 224 | 0.0045 | 1034 | c.118 others(1053): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1027): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0009 | a0009c0141 | a0009c0141t0001 | a0009c0141t0001g0167 | 1 | 98 | 0.0102 | 1034 | c.118 others(1053): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1027): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0032 | a0032c0070 | a0032c0070t0002 | a0032c0070t0002g0228 | 1 | 229 | 0.0044 | 1034 | c.228 others(1051): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1027): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0015 | a0015c0038 | a0015c0038t0005 | a0015c0038t0005g0080 | 1 | 289 | 0.0035 | 1034 | c.-49 others(1045): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | |||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1027): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02258.hp1 HG03098.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0002t0002 | a0001c0001t0001g0220 a0001c0001t0010g0237 a0001c0002t0002g0218 |
3 | 139 | 0.0216 | 1034 | c.-14 others(1053): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(1027): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 96 | 0.0104 | 1034 | c.119 others(1053): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586500 | C | CGGGGGGG others(1027): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 229 | 0.0044 | 1034 | c.157 others(1051): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 315730 | G | GACACAGA others(1027): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0085 | 1 | 68 | 0.0147 | 1034 | c.488 others(1049): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 316177 | C | CACACAGA others(1027): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0090 | 1 | 46 | 0.0217 | 1034 | c.487 others(1049): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(1027): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0179 | 1 | 124 | 0.0081 | 1034 | c.*65 others(1045): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(1027): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 | 1 | 124 | 0.0081 | 1034 | c.*65 others(1045): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859063 | G | GTGTCTCG others(1027): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0062 | 1 | 214 | 0.0047 | 1034 | c.153 others(1053): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(1027): Show |
upstream_gene_variant | MODIFIER | HG02523.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 170 | 0.0059 | 1034 | c.-30 others(1045): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(1027): Show |
upstream_gene_variant | MODIFIER | HG02148.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0001 | 1 | 170 | 0.0059 | 1034 | c.-30 others(1045): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(1027): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0005 | a0002c0005t0006 | a0002c0005t0006g0001 | 1 | 170 | 0.0059 | 1034 | c.-30 others(1045): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(1027): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0001 | 1 | 170 | 0.0059 | 1034 | c.-30 others(1045): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(1027): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01071.hp1 HG01175.hp2 others(15): Show |
a0002a0007a0012 | a0002c0002a0002c0005a0007c0009others(1): Show | a0002c0002t0001a0002c0005t0001a0007c0009t0001others(1): Show | a0002c0002t0001g0001 a0002c0005t0001g0001 a0007c0009t0001g0001 others(1): Show |
18 | 187 | 0.0963 | 1034 | c.-30 others(1045): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1027): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 337 | 0.0030 | 1034 | c.-29 others(1045): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar | |||||||
MAEA_chr4_1284891_1345137 | 1317182 | C | CCACCCCA others(1027): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0320 | 1 | 370 | 0.0027 | 1034 | c.456 others(1051): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(1027): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG01243.hp1 |
a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0047 | 2 | 126 | 0.0159 | 1034 | c.-49 others(1045): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43432640 | A | AAAGGGAG others(1027): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0061 | 1 | 64 | 0.0156 | 1034 | c.225 others(1051): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946849 | G | GGGGAGGG others(1027): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0234 | 1 | 245 | 0.0041 | 1034 | c.371 others(1051): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492388 | A | AGCCCTCC others(1027): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0046 | 1 | 132 | 0.0076 | 1034 | c.126 others(1053): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547360 | A | AAATAAAT others(1027): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0325 | 1 | 306 | 0.0033 | 1034 | c.45- others(1049): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 242729 | A | ACCTTCCT others(1027): Show |
intron_variant | MODIFIER | HG01167.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010 | a0001c0001t0005g0100 a0001c0001t0010g0129 |
2 | 122 | 0.0164 | 1034 | c.613 others(1051): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
SLC7A1_chr13_29504414_29600688 | 29558352 | G | GGGGAGAG others(1027): Show |
intron_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0192 | 1 | 328 | 0.0030 | 1034 | c.-11 others(1053): Show |
SLC7A1 | ENSG00000139514.13 | transcript | ENST00000380752.10 | protein_coding | 1/12 | chr13 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1027): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0165 | 1 | 149 | 0.0067 | 1034 | c.129 others(1051): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(1027): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0004 | 1 | 2 | 0.5000 | 1034 | c.*53 others(1045): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46292564 | A | AACTCTAG others(1027): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG02602.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 a0001c0001t0002g0312 |
3 | 352 | 0.0085 | 1034 | c.339 others(1051): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46292619 | G | GAGTCAGC others(1027): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0183 | 1 | 388 | 0.0026 | 1034 | c.339 others(1051): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | chr21 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294472 | A | ACAGCCAC others(1027): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0212 | 1 | 308 | 0.0032 | 1034 | c.340 others(1051): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294617 | G | GAGTCAGC others(1027): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 399 | 0.0025 | 1034 | c.340 others(1051): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | chr21 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123314855 | T | TAGAAGGG others(1028): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0020 | a0001c0001t0015g0185 a0001c0001t0020g0083 |
2 | 258 | 0.0078 | 1035 | c.235 others(1052): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 11/20 | chr3 | TogoVar | |||||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GGCGCCTG others(1028): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0007 | 1 | 197 | 0.0051 | 1035 | c.578 others(1048): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1028): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0025 | 1 | 3 | 0.3333 | 1035 | c.787 others(1050): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1028): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0220 | 1 | 3 | 0.3333 | 1035 | c.787 others(1050): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1028): Show |
intron_variant | MODIFIER | NA18953.hp1 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 a0001c0001t0001g0150 |
2 | 9 | 0.2222 | 1035 | c.285 others(1054): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1028): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 8 | 0.1250 | 1035 | c.285 others(1054): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1028): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 a0001c0001t0001g0115 |
2 | 9 | 0.2222 | 1035 | c.285 others(1054): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1028): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0135 | 1 | 8 | 0.1250 | 1035 | c.285 others(1054): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1028): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 8 | 0.1250 | 1035 | c.285 others(1054): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(1028): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0019 | 1 | 72 | 0.0139 | 1035 | c.273 others(1052): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 422064 | C | CCTCCATG others(1028): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 347 | 0.0029 | 1035 | c.413 others(1052): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |