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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNX7_chr1_98656721_98765500 | 98756375 | T | TTATAGAT others(6136): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0190 | 1 | 362 | 0.0028 | 6143 | c.127 others(6162): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NEK11_chr3_131021877_131355465 | 131350923 | C | CAACAATA others(6137): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0094 | 1 | 273 | 0.0037 | 6144 | c.*11 others(6155): Show |
NEK11 | ENSG00000114670.14 | transcript | ENST00000383366.9 | protein_coding | 459 | chr3 | TogoVar | |||||||
NEK11_chr3_131021877_131355465 | 131350923 | C | CAACAATA others(6137): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 HG03209.hp2 |
a0002a0009 | a0002c0002a0009c0014 | a0002c0002t0001a0009c0014t0002 | a0002c0002t0001g0051 a0009c0014t0002g0095 |
2 | 274 | 0.0073 | 6144 | c.*11 others(6155): Show |
NEK11 | ENSG00000114670.14 | transcript | ENST00000383366.9 | protein_coding | 459 | chr3 | TogoVar | |||||||
NEK11_chr3_131021877_131355465 | 131350923 | C | CAACAATA others(6137): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0078 | 1 | 273 | 0.0037 | 6144 | c.*11 others(6155): Show |
NEK11 | ENSG00000114670.14 | transcript | ENST00000383366.9 | protein_coding | 459 | chr3 | TogoVar | |||||||
PTP4A3_chr8_141387021_141437454 | 141415691 | A | AGAGGGGT others(6137): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 9 | 0.2222 | 6144 | c.-85 others(6163): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803146 | C | CCGGGGGC others(6138): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 394 | 0.0025 | 6145 | c.666 others(6160): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | chr9 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803146 | C | CCGGGGGC others(6138): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 | a0003 | a0003c0014 | a0003c0014t0001 | a0003c0014t0001g0214 | 1 | 324 | 0.0031 | 6145 | c.-50 others(6156): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4801 | chr9 | TogoVar | |||||||
DCDC1_chr11_30858603_31374739 | 30962363 | T | TAAAACAG others(6141): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0051 | 1 | 150 | 0.0067 | 6148 | c.259 others(6167): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 20/38 | chr11 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241748 | A | ACACACCC others(6141): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0144 | 1 | 71 | 0.0141 | 6148 | c.107 others(6167): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
TBXAS1_chr7_139824264_140025293 | 139950797 | G | GGGACCCC others(6141): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 259 | 0.0039 | 6148 | c.451 others(6165): Show |
TBXAS1 | ENSG00000059377.19 | transcript | ENST00000448866.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
WNK1_chr12_747579_916452 | 836932 | A | ACATTTAG others(6142): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0009 | a0009c0014 | a0009c0014t0002 | a0009c0014t0002g0053 | 1 | 282 | 0.0035 | 6149 | c.131 others(6168): Show |
WNK1 | ENSG00000060237.19 | transcript | ENST00000315939.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PAPPA2_chr1_176458175_176850601 | 176648887 | T | TAGTTTTC others(6143): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0029 | 1 | 116 | 0.0086 | 6150 | c.199 others(6171): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126710881 | T | TAAAGACT others(6144): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 214 | 0.0047 | 6151 | c.87+ others(6166): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43339807 | C | CACGCTCC others(6144): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0033 | 1 | 157 | 0.0064 | 6151 | c.89- others(6164): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
BTNL9_chr5_181035266_181066521 | 181045891 | G | GACACCTC others(6146): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0176 | 1 | 29 | 0.0345 | 6153 | c.109 others(6168): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17238838 | T | TAAAAGAC others(6148): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0266 | 1 | 272 | 0.0037 | 6155 | c.177 others(6174): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TNN_chr1_175062833_175153075 | 175108077 | C | CGATTGAT others(6151): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0117 | 1 | 313 | 0.0032 | 6158 | c.212 others(6177): Show |
TNN | ENSG00000120332.17 | transcript | ENST00000239462.9 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6152): Show |
downstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0089 | 1 | 23 | 0.0435 | 6159 | c.*89 others(6170): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
SLC5A8_chr12_101150493_101215238 | 101154283 | G | GAAAAAAA others(6153): Show |
downstream_gene_variant | MODIFIER | NA18989.hp2 NA19001.hp2 NA19066.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0029 a0002c0003t0002g0267 a0002c0003t0002g0275 others(1): Show |
4 | 108 | 0.0370 | 6160 | c.*29 others(6171): Show |
SLC5A8 | ENSG00000256870.3 | transcript | ENST00000536262.3 | protein_coding | 1209 | chr12 | TogoVar | |||||||
SLC5A8_chr12_101150493_101215238 | 101154314 | C | CGAAGGAC others(6153): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 NA20805.hp2 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0165 a0002c0004t0002g0199 |
2 | 374 | 0.0053 | 6160 | c.*29 others(6171): Show |
SLC5A8 | ENSG00000256870.3 | transcript | ENST00000536262.3 | protein_coding | 1178 | chr12 | TogoVar | |||||||
CES5A_chr16_55841154_55880373 | 55855804 | T | TTTGTGGG others(6154): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0014 | a0014c0039 | a0014c0039t0002 | a0014c0039t0002g0286 | 1 | 448 | 0.0022 | 6161 | c.112 others(6178): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 9/12 | chr16 | TogoVar | |||||||
SLC5A8_chr12_101150493_101215238 | 101154283 | G | GAAAAAAA others(6154): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG01167.hp1 NA19064.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0261 a0002c0003t0002g0265 a0002c0003t0002g0283 |
3 | 107 | 0.0280 | 6161 | c.*29 others(6172): Show |
SLC5A8 | ENSG00000256870.3 | transcript | ENST00000536262.3 | protein_coding | 1209 | chr12 | TogoVar | |||||||
SLC5A8_chr12_101150493_101215238 | 101154283 | G | GAAAAAAA others(6154): Show |
downstream_gene_variant | MODIFIER | NA19062.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0280 | 1 | 105 | 0.0095 | 6161 | c.*29 others(6172): Show |
SLC5A8 | ENSG00000256870.3 | transcript | ENST00000536262.3 | protein_coding | 1209 | chr12 | TogoVar | |||||||
SLC5A8_chr12_101150493_101215238 | 101154283 | G | GAAAAAAA others(6154): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 HG03239.hp2 HG03927.hp1 |
a0002 | a0002c0004 | a0002c0004t0002a0002c0004t0020 | a0002c0004t0002g0167 a0002c0004t0002g0168 a0002c0004t0020g0166 |
3 | 107 | 0.0280 | 6161 | c.*29 others(6172): Show |
SLC5A8 | ENSG00000256870.3 | transcript | ENST00000536262.3 | protein_coding | 1209 | chr12 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(6155): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03130.hp1 |
a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0306 a0002c0005t0004g0308 |
2 | 213 | 0.0094 | 6162 | c.225 others(6179): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6156): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0012 | 1 | 23 | 0.0435 | 6163 | c.*89 others(6174): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6157): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 a0001c0001t0004g0013 a0001c0001t0004g0016 |
3 | 25 | 0.1200 | 6164 | c.*89 others(6175): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6157): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0014 | 1 | 23 | 0.0435 | 6164 | c.*89 others(6175): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158332476 | T | TTATGTGT others(6158): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0050 | 1 | 157 | 0.0064 | 6165 | c.764 others(6182): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 7/13 | chr2 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158332476 | T | TTATGTGT others(6158): Show |
intron_variant | MODIFIER | NA18948.hp2 NA18999.hp1 NA19064.hp2 others(1): Show |
a0005 | a0005c0005 | a0005c0005t0001a0005c0005t0007 | a0005c0005t0001g0037 a0005c0005t0001g0041 a0005c0005t0001g0042 others(1): Show |
4 | 160 | 0.0250 | 6165 | c.764 others(6182): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 7/13 | chr2 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158332476 | T | TTATGTGT others(6158): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG02015.hp1 others(18): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(2): Show | a0002c0002t0001g0033 a0002c0002t0001g0043 a0002c0002t0001g0044 others(18): Show |
21 | 177 | 0.1186 | 6165 | c.764 others(6182): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 7/13 | chr2 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158332476 | T | TTATGTGT others(6158): Show |
intron_variant | MODIFIER | HG02132.hp2 HG03831.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0054 a0002c0002t0002g0048 |
2 | 158 | 0.0127 | 6165 | c.764 others(6182): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 7/13 | chr2 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158332476 | T | TTATGTGT others(6158): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0259 | 1 | 157 | 0.0064 | 6165 | c.764 others(6182): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 7/13 | chr2 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158332476 | T | TTATGTGT others(6158): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02486.hp2 HG03130.hp2 |
a0006 | a0006c0007 | a0006c0007t0002a0006c0007t0003 | a0006c0007t0002g0110 a0006c0007t0003g0111 a0006c0007t0003g0112 |
3 | 159 | 0.0189 | 6165 | c.764 others(6182): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 7/13 | chr2 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158332476 | T | TTATGTGT others(6158): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01243.hp1 HG01261.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0003g0113 a0002c0002t0001g0023 a0002c0002t0001g0092 others(16): Show |
19 | 175 | 0.1086 | 6165 | c.764 others(6182): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 7/13 | chr2 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158332476 | T | TTATGTGT others(6158): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0051 | 1 | 157 | 0.0064 | 6165 | c.764 others(6182): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 7/13 | chr2 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158332476 | T | TTATGTGT others(6158): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02895.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0256 a0002c0002t0003g0262 |
2 | 158 | 0.0127 | 6165 | c.764 others(6182): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 7/13 | chr2 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158332476 | T | TTATGTGT others(6158): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0264 | 1 | 157 | 0.0064 | 6165 | c.764 others(6182): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 7/13 | chr2 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158332476 | T | TTATGTGT others(6158): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0154 | 1 | 157 | 0.0064 | 6165 | c.764 others(6182): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 7/13 | chr2 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158332476 | T | TTATGTGT others(6158): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0061 | 1 | 157 | 0.0064 | 6165 | c.764 others(6182): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 7/13 | chr2 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158332476 | T | TTATGTGT others(6158): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG02572.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0004 | a0002c0002t0001g0063 a0002c0002t0001g0075 a0002c0002t0001g0076 others(2): Show |
5 | 161 | 0.0311 | 6165 | c.764 others(6182): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 7/13 | chr2 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158332476 | T | TTATGTGT others(6158): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0074 | 1 | 157 | 0.0064 | 6165 | c.764 others(6182): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 7/13 | chr2 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158332476 | T | TTATGTGT others(6158): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03098.hp2 HG03471.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0002c0002t0001g0072 a0002c0002t0002g0081 a0002c0002t0003g0079 others(2): Show |
5 | 161 | 0.0311 | 6165 | c.764 others(6182): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 7/13 | chr2 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716520 | G | GGGGAGGA others(6158): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0025 | a0001c0025t0001 | a0001c0025t0001g0051 | 1 | 157 | 0.0064 | 6165 | c.86- others(6176): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6158): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 a0001c0001t0004g0015 |
2 | 24 | 0.0833 | 6165 | c.*89 others(6176): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
RBP7_chr1_9992228_10021021 | 10015448 | C | CAAAAAAA others(6158): Show |
intron_variant | MODIFIER | HG03209.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 a0001c0001t0001g0111 |
2 | 176 | 0.0114 | 6165 | c.355 others(6180): Show |
RBP7 | ENSG00000162444.12 | transcript | ENST00000294435.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MFSD5_chr12_53247095_53259406 | 53247750 | C | CAAAAAAA others(6159): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 127 | 0.0079 | 6166 | c.-45 others(6177): Show |
MFSD5 | ENSG00000182544.9 | transcript | ENST00000329548.5 | protein_coding | 4344 | chr12 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716277 | G | GTGTCATG others(6162): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 90 | 0.0111 | 6169 | c.86- others(6182): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045891 | G | GACACCTC others(6163): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 29 | 0.0345 | 6170 | c.109 others(6185): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3B_chr1_51902956_51995700 | 51906869 | A | AAGGGAAG others(6166): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 13 | 0.0769 | 6173 | c.*13 others(6186): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1086 | chr1 | TogoVar |