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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BTNL9_chr5_181035266_181066521 | 181045891 | G | GACACCTC others(6146): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0178 | 1 | 390 | 0.0026 | 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 | a0001c0001t0038g0267 | 1 | 274 | 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 | a0002c0005t0002g0116 | 1 | 374 | 0.0027 | 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 | a0001c0001t0003g0088 | 1 | 120 | 0.0083 | 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 | a0002c0003t0002g0297 a0002c0003t0002g0310 a0002c0003t0002g0311 others(1): Show |
4 | 375 | 0.0107 | 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 | a0002c0004t0002g0179 a0002c0004t0002g0220 |
2 | 375 | 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 | a0014c0039t0002g0287 | 1 | 449 | 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 | a0002c0003t0002g0291 a0002c0003t0002g0295 a0002c0003t0002g0319 |
3 | 375 | 0.0080 | 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 | a0002c0003t0002g0316 | 1 | 375 | 0.0027 | 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 | a0002c0004t0002g0181 a0002c0004t0002g0182 a0002c0004t0020g0180 |
3 | 375 | 0.0080 | 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 | 318 | 0.0063 | 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 | a0001c0001t0004g0015 | 1 | 120 | 0.0083 | 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 | 120 | 0.0250 | 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 | 120 | 0.0083 | 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 | 264 | 0.0038 | 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 |
a0005a0011 | a0005c0005a0011c0017 | a0005c0005t0001a0005c0005t0007a0011c0017t0001 | a0005c0005t0001g0037 a0005c0005t0001g0042 a0005c0005t0007g0001 others(1): Show |
4 | 264 | 0.0152 | 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 | 264 | 0.0796 | 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 a0002c0002t0002g0046 |
2 | 264 | 0.0076 | 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 | 264 | 0.0038 | 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 | a0006c0007t0002g0111 a0006c0007t0003g0110 a0006c0007t0003g0112 |
3 | 264 | 0.0114 | 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 | 264 | 0.0720 | 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 | 264 | 0.0038 | 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 | 264 | 0.0076 | 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 | 264 | 0.0038 | 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 | a0002c0002t0002g0151 | 1 | 264 | 0.0038 | 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 | 264 | 0.0038 | 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 | 264 | 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 | HG01099.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0074 | 1 | 264 | 0.0038 | 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 | 264 | 0.0189 | 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 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0051 | 1 | 170 | 0.0059 | 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 a0001c0001t0004g0012 |
2 | 120 | 0.0167 | 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 | a0001c0001t0001g0078 a0001c0001t0001g0089 |
2 | 376 | 0.0053 | 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 | 410 | 0.0024 | 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 | 170 | 0.0059 | 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 | a0001c0001t0001g0187 | 1 | 390 | 0.0026 | 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 | a0001c0001t0005 | a0001c0001t0005g0039 | 1 | 62 | 0.0161 | 6173 | c.*13 others(6186): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1086 | chr1 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1065227 | C | TTGTTATG others(6167): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0211 | 1 | 337 | 0.0030 | 6174 | c.118 others(6193): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
PDLIM5_chr4_94446942_94673223 | 94622271 | T | TGCGTTCC others(6167): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 | 1 | 218 | 0.0046 | 6174 | c.110 others(6193): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
IL1RAPL2_chrX_104561199_105772829 | 104574392 | T | TAAGAAGG others(6169): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 141 | 0.0071 | 6176 | c.-20 others(6193): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CCDC148_chr2_158166073_158461753 | 158332476 | T | TTATGTGT others(6170): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 264 | 0.0038 | 6177 | c.764 others(6194): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 7/13 | chr2 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158332476 | T | TTATGTGT others(6170): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02132.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0019 |
2 | 264 | 0.0076 | 6177 | c.764 others(6194): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 7/13 | chr2 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158332476 | T | TTATGTGT others(6170): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 264 | 0.0038 | 6177 | c.764 others(6194): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 7/13 | chr2 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158332476 | T | TTATGTGT others(6170): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(25): Show |
a0001 | a0001c0001a0001c0009a0001c0016 | a0001c0001t0001a0001c0001t0002a0001c0009t0002others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(25): Show |
28 | 264 | 0.1061 | 6177 | c.764 others(6194): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 7/13 | chr2 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158332476 | T | TTATGTGT others(6170): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 264 | 0.0038 | 6177 | c.764 others(6194): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 7/13 | chr2 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158332476 | T | TTATGTGT others(6170): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 264 | 0.0038 | 6177 | c.764 others(6194): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 7/13 | chr2 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158332476 | T | TTATGTGT others(6170): Show |
intron_variant | MODIFIER | HG01515.hp2 HG04199.hp2 NA20752.hp2 |
a0001a0010 | a0001c0001a0010c0014 | a0001c0001t0002a0010c0014t0001 | a0001c0001t0002g0027 a0001c0001t0002g0028 a0010c0014t0001g0032 |
3 | 264 | 0.0114 | 6177 | c.764 others(6194): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 7/13 | chr2 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158332476 | T | TTATGTGT others(6170): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0029 | 1 | 264 | 0.0038 | 6177 | c.764 others(6194): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 7/13 | chr2 | TogoVar | |||||||
IL1RAPL2_chrX_104561199_105772829 | 104574392 | T | TAAGAAGG others(6170): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0070 | 1 | 141 | 0.0071 | 6177 | c.-20 others(6194): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(6171): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0298 | 1 | 344 | 0.0029 | 6178 | c.127 others(6195): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TNFRSF6B_chr20_63691652_63703684 | 63693726 | A | ACCTCCAC others(6171): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 33 | 0.0303 | 6178 | c.-30 others(6189): Show |
TNFRSF6B | ENSG00000243509.6 | transcript | ENST00000369996.3 | protein_coding | 2925 | chr20 | TogoVar |