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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPHA7_chr6_93235020_93424559 | 93313422 | C | CTTGTCTT others(6211): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0171 | 1 | 274 | 0.0036 | 6218 | c.132 others(6239): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 5/16 | chr6 | TogoVar | |||||||
EPHA7_chr6_93235020_93424559 | 93313422 | C | CTTGTCTT others(6212): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0276 | 1 | 274 | 0.0036 | 6219 | c.132 others(6240): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 5/16 | chr6 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6213): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0098 a0001c0001t0009g0099 |
2 | 24 | 0.0833 | 6220 | c.*89 others(6231): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6214): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0046 | 1 | 23 | 0.0435 | 6221 | c.*89 others(6232): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6214): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0001 | 1 | 23 | 0.0435 | 6221 | c.*89 others(6232): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
FAM120B_chr6_170301758_170412067 | 170377620 | G | GCACCGGC others(6215): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0149 | 1 | 161 | 0.0062 | 6222 | c.228 others(6243): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377624 | A | CGGCTCAC others(6215): Show |
intron_variant | MODIFIER | NA19065.hp1 NA19065.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0110 a0002c0003t0002g0148 |
2 | 280 | 0.0071 | 6222 | c.228 others(6243): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6215): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0010 | 1 | 23 | 0.0435 | 6222 | c.*89 others(6233): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
EPHA7_chr6_93235020_93424559 | 93313422 | C | CTTGTCTT others(6216): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0258 | 1 | 274 | 0.0036 | 6223 | c.132 others(6244): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 5/16 | chr6 | TogoVar | |||||||
EPHA7_chr6_93235020_93424559 | 93313422 | C | CTTGTCTT others(6217): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 274 | 0.0036 | 6224 | c.132 others(6245): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 5/16 | chr6 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6217): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0102 | 1 | 23 | 0.0435 | 6224 | c.*89 others(6235): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6217): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 271 | 0.0037 | 6224 | c.118 others(6243): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6218): Show |
downstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 23 | 0.0435 | 6225 | c.*89 others(6236): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
HSD17B1_chr17_42547923_42560214 | 42549608 | T | TCCGGCCC others(6220): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 419 | 0.0024 | 6227 | c.-33 others(6238): Show |
HSD17B1 | ENSG00000108786.11 | transcript | ENST00000585807.6 | protein_coding | 3314 | chr17 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6220): Show |
intron_variant | MODIFIER | NA18983.hp2 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 a0001c0001t0001g0155 |
2 | 272 | 0.0074 | 6227 | c.118 others(6246): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6220): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 271 | 0.0037 | 6227 | c.118 others(6246): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6220): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 271 | 0.0037 | 6227 | c.118 others(6246): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716460 | T | TGGGGGAG others(6221): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0100 | 1 | 129 | 0.0078 | 6228 | c.86- others(6239): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MRC1_chr10_17804348_17916164 | 17849122 | T | TAGATATA others(6221): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0008 | a0008c0081 | a0008c0081t0001 | a0008c0081t0001g0171 | 1 | 355 | 0.0028 | 6228 | c.106 others(6245): Show |
MRC1 | ENSG00000260314.3 | transcript | ENST00000569591.3 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MRC1_chr10_17804348_17916164 | 17849122 | T | TAGATATA others(6221): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0008 | a0008c0054 | a0008c0054t0002 | a0008c0054t0002g0046 | 1 | 355 | 0.0028 | 6228 | c.106 others(6245): Show |
MRC1 | ENSG00000260314.3 | transcript | ENST00000569591.3 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6221): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 NA18956.hp1 NA18957.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0106 others(2): Show |
5 | 27 | 0.1852 | 6228 | c.*89 others(6239): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6221): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 23 | 0.0435 | 6228 | c.*89 others(6239): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6221): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01074.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0173 others(1): Show |
4 | 274 | 0.0146 | 6228 | c.118 others(6247): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6221): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01257.hp2 HG01358.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 others(7): Show |
10 | 280 | 0.0357 | 6228 | c.118 others(6247): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6221): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02451.hp2 HG03041.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0016 | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 others(5): Show |
8 | 278 | 0.0288 | 6228 | c.118 others(6247): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6222): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 23 | 0.0435 | 6229 | c.*89 others(6240): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6222): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG02486.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0074 |
3 | 25 | 0.1200 | 6229 | c.*89 others(6240): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6222): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0273 | 1 | 271 | 0.0037 | 6229 | c.118 others(6248): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6222): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02647.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(1): Show | a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0147 others(3): Show |
6 | 276 | 0.0217 | 6229 | c.118 others(6248): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6222): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 271 | 0.0037 | 6229 | c.118 others(6248): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
BTNL9_chr5_181035266_181066521 | 181045891 | G | GACACCTC others(6223): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0181 | 1 | 29 | 0.0345 | 6230 | c.109 others(6245): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6223): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 23 | 0.0435 | 6230 | c.*89 others(6241): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6223): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0270 a0001c0001t0003g0271 |
2 | 272 | 0.0074 | 6230 | c.118 others(6249): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6223): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0281 | 1 | 271 | 0.0037 | 6230 | c.118 others(6249): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294693 | G | GTCAGCCA others(6223): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 198 | 0.0051 | 6230 | c.340 others(6247): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6225): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0022 | 1 | 23 | 0.0435 | 6232 | c.*89 others(6243): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6225): Show |
downstream_gene_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 23 | 0.0435 | 6232 | c.*89 others(6243): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
RGS7_chr1_240770514_241362205 | 241163827 | A | AAAAGAGG others(6225): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 | 1 | 111 | 0.0090 | 6232 | c.79- others(6249): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 2/18 | chr1 | TogoVar | |||||||
RGS7_chr1_240770514_241362205 | 241163827 | A | AAAAGAGG others(6226): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 111 | 0.0090 | 6233 | c.79- others(6250): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 2/18 | chr1 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6227): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0073 a0001c0001t0019g0091 |
2 | 24 | 0.0833 | 6234 | c.*89 others(6245): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6227): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0084 | 1 | 23 | 0.0435 | 6234 | c.*89 others(6245): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6228): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0101 | 1 | 23 | 0.0435 | 6235 | c.*89 others(6246): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(6230): Show |
downstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0198 | 1 | 69 | 0.0145 | 6237 | c.*52 others(6248): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6230): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0037 | 1 | 23 | 0.0435 | 6237 | c.*89 others(6248): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126948305 | C | CTGTTGGT others(6231): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0010 | a0002c0010t0005 | a0002c0010t0005g0083 | 1 | 134 | 0.0075 | 6238 | c.47- others(6255): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6231): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 a0001c0001t0001g0207 |
2 | 272 | 0.0074 | 6238 | c.118 others(6257): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6232): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 271 | 0.0037 | 6239 | c.118 others(6258): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6232): Show |
intron_variant | MODIFIER | NA18522.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 a0001c0001t0001g0257 |
2 | 272 | 0.0074 | 6239 | c.118 others(6258): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130646430 | T | TCCACCTC others(6233): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0173 | 1 | 90 | 0.0111 | 6240 | c.-35 others(6261): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6233): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 271 | 0.0037 | 6240 | c.118 others(6259): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar |