| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6233): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 271 | 0.0037 | 6240 | c.118 others(6259): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
| SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6233): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 271 | 0.0037 | 6240 | c.118 others(6259): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
| MRC1_chr10_17804348_17916164 | 17849122 | T | TAGATATA others(6235): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0341 | 1 | 355 | 0.0028 | 6242 | c.106 others(6259): 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(6235): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0083 | 1 | 23 | 0.0435 | 6242 | c.*89 others(6253): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
| SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6235): Show |
intron_variant | MODIFIER | HG02145.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0068 a0001c0001t0005g0070 |
2 | 272 | 0.0074 | 6242 | c.118 others(6261): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
| MRC1_chr10_17804348_17916164 | 17849122 | T | TAGATATA others(6236): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0170 | 1 | 355 | 0.0028 | 6243 | c.106 others(6260): 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(6236): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0340 | 1 | 355 | 0.0028 | 6243 | c.106 others(6260): Show |
MRC1 | ENSG00000260314.3 | transcript | ENST00000569591.3 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6236): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0073 | 1 | 271 | 0.0037 | 6243 | c.118 others(6262): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
| SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6236): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02970.hp1 NA19043.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0067 a0001c0001t0005g0069 a0001c0001t0005g0071 others(1): Show |
4 | 274 | 0.0146 | 6243 | c.118 others(6262): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
| SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6236): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0262 | 1 | 271 | 0.0037 | 6243 | c.118 others(6262): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
| MRC1_chr10_17804348_17916164 | 17849122 | T | TAGATATA others(6237): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0164 | 1 | 355 | 0.0028 | 6244 | c.106 others(6261): 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(6237): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0339 | 1 | 355 | 0.0028 | 6244 | c.106 others(6261): Show |
MRC1 | ENSG00000260314.3 | transcript | ENST00000569591.3 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6237): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 271 | 0.0037 | 6244 | c.118 others(6263): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
| SPIRE1_chr18_12441512_12663107 | 12491252 | C | CAAGAAAA others(6237): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 271 | 0.0037 | 6244 | c.118 others(6263): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 8/16 | chr18 | TogoVar | |||||||
| ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(6238): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0293 | 1 | 173 | 0.0058 | 6245 | c.127 others(6262): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| MRC1_chr10_17804348_17916164 | 17849122 | T | TAGATATA others(6238): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0018 | a0018c0070 | a0018c0070t0001 | a0018c0070t0001g0169 | 1 | 355 | 0.0028 | 6245 | c.106 others(6262): Show |
MRC1 | ENSG00000260314.3 | transcript | ENST00000569591.3 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(6242): Show |
conservative_inframe_insertion | MODERATE | HG02132.hp1 | a0001 | a0001c0091 | a0001c0091t0002 | a0001c0091t0002g0198 | 1 | 2 | 0.5000 | 6249 | c.481 others(6258): Show |
p.Ser others(6264): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | |||
| PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(6244): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0011 | 1 | 87 | 0.0115 | 6251 | c.773 others(6266): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(6245): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 55 | 0.0182 | 6252 | c.891 others(6267): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
| DCLK2_chr4_150073445_150262438 | 150251268 | C | CCACACCC others(6246): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0070 | 1 | 89 | 0.0112 | 6253 | c.207 others(6272): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1065276 | C | TGTGAACT others(6250): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0209 | 1 | 317 | 0.0032 | 6257 | c.118 others(6276): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
| VPS13B_chr8_99008274_99882580 | 99780155 | T | TAAAATAA others(6255): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0016 | a0016c0024 | a0016c0024t0005 | a0016c0024t0005g0123 | 1 | 132 | 0.0076 | 6262 | c.777 others(6281): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| EHMT1_chr9_137614005_137841127 | 137716376 | G | GGGAGGAA others(6256): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0060 | 1 | 167 | 0.0060 | 6263 | c.86- others(6276): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| ZSCAN2_chr15_84596009_84628716 | 84597662 | T | TAAGATGT others(6258): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0019 | 1 | 389 | 0.0026 | 6265 | c.-35 others(6276): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 3346 | chr15 | TogoVar | |||||||
| MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(6259): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 8 | 0.1250 | 6266 | c.-45 others(6275): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
| NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6259): Show |
frameshift_variant others(1): Show |
HIGH | HG01074.hp2 HG01106.hp1 |
a0004 | a0004c0031 | a0004c0031t0003 | a0004c0031t0003g0011 | 2 | 264 | 0.0076 | 6266 | c.109 others(6277): Show |
p.Tyr others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | |||
| NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6259): Show |
frameshift_variant others(1): Show |
HIGH | HG01256.hp2 HG01258.hp1 |
a0004 | a0004c0028 | a0004c0028t0003 | a0004c0028t0003g0164 a0004c0028t0003g0178 |
2 | 264 | 0.0076 | 6266 | c.109 others(6277): Show |
p.Tyr others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | |||
| NBPF12_chr1_146933324_147001198 | 146967851 | T | TTGTTTCT others(6259): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0015 | 1 | 120 | 0.0083 | 6266 | c.989 others(6281): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6261): Show |
frameshift_variant others(1): Show |
HIGH | NA18954.hp2 | a0004 | a0004c0125 | a0004c0125t0003 | a0004c0125t0003g0202 | 1 | 263 | 0.0038 | 6268 | c.109 others(6279): Show |
p.Tyr others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | |||
| NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6261): Show |
frameshift_variant others(1): Show |
HIGH | NA19062.hp1 | a0004 | a0004c0147 | a0004c0147t0003 | a0004c0147t0003g0266 | 1 | 263 | 0.0038 | 6268 | c.109 others(6279): Show |
p.Tyr others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | |||
| ZSCAN2_chr15_84596009_84628716 | 84597662 | T | TAAGATGT others(6261): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0003 | a0001c0003t0019 | a0001c0003t0019g0080 | 1 | 389 | 0.0026 | 6268 | c.-35 others(6279): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 3346 | chr15 | TogoVar | |||||||
| ZSCAN2_chr15_84596009_84628716 | 84597662 | T | TAAGATGT others(6262): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 389 | 0.0026 | 6269 | c.-35 others(6280): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 3346 | chr15 | TogoVar | |||||||
| ZSCAN2_chr15_84596009_84628716 | 84597662 | T | TAAGATGT others(6262): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0082 | 1 | 389 | 0.0026 | 6269 | c.-35 others(6280): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 3346 | chr15 | TogoVar | |||||||
| ZSCAN2_chr15_84596009_84628716 | 84597662 | T | TAAGATGT others(6262): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 | 1 | 389 | 0.0026 | 6269 | c.-35 others(6280): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 3346 | chr15 | TogoVar | |||||||
| NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6263): Show |
stop_gained others(1): Show |
HIGH | HG00741.hp2 HG02735.hp2 |
a0004 | a0004c0126a0004c0134 | a0004c0126t0003a0004c0134t0003 | a0004c0126t0003g0203 a0004c0134t0003g0185 |
2 | 264 | 0.0076 | 6270 | c.109 others(6281): Show |
p.Gly others(6285): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | |||
| NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6263): Show |
stop_gained others(1): Show |
HIGH | HG03710.hp2 | a0004 | a0004c0131 | a0004c0131t0015 | a0004c0131t0015g0168 | 1 | 263 | 0.0038 | 6270 | c.109 others(6281): Show |
p.Gly others(6285): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | |||
| NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6263): Show |
stop_gained others(1): Show |
HIGH | HG00558.hp2 HG02132.hp1 HG02155.hp2 |
a0004 | a0004c0029a0004c0113 | a0004c0029t0008a0004c0029t0016a0004c0113t0003 | a0004c0029t0008g0161 a0004c0029t0016g0180 a0004c0113t0003g0195 |
3 | 265 | 0.0113 | 6270 | c.109 others(6281): Show |
p.Gly others(6285): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | |||
| ZSCAN2_chr15_84596009_84628716 | 84597662 | T | TAAGATGT others(6263): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 389 | 0.0026 | 6270 | c.-35 others(6281): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 3346 | chr15 | TogoVar | |||||||
| ZSCAN2_chr15_84596009_84628716 | 84597662 | T | TAAGATGT others(6263): Show |
upstream_gene_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 389 | 0.0026 | 6270 | c.-35 others(6281): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 3346 | chr15 | TogoVar | |||||||
| ZSCAN2_chr15_84596009_84628716 | 84597662 | T | TAAGATGT others(6263): Show |
upstream_gene_variant | MODIFIER | HG01993.hp1 HG02683.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 a0001c0001t0001g0083 |
2 | 390 | 0.0051 | 6270 | c.-35 others(6281): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 3346 | chr15 | TogoVar | |||||||
| ZSCAN2_chr15_84596009_84628716 | 84597662 | T | TAAGATGT others(6263): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG03195.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 a0001c0003t0001g0024 |
2 | 390 | 0.0051 | 6270 | c.-35 others(6281): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 3346 | chr15 | TogoVar | |||||||
| ZSCAN2_chr15_84596009_84628716 | 84597662 | T | TAAGATGT others(6264): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 389 | 0.0026 | 6271 | c.-35 others(6282): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 3346 | chr15 | TogoVar | |||||||
| ZSCAN2_chr15_84596009_84628716 | 84597662 | T | TAAGATGT others(6264): Show |
upstream_gene_variant | MODIFIER | HG02004.hp2 HG02273.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0024 |
2 | 390 | 0.0051 | 6271 | c.-35 others(6282): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 3346 | chr15 | TogoVar | |||||||
| ZSCAN2_chr15_84596009_84628716 | 84597662 | T | TAAGATGT others(6264): Show |
upstream_gene_variant | MODIFIER | HG01943.hp2 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 2 | 390 | 0.0051 | 6271 | c.-35 others(6282): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 3346 | chr15 | TogoVar | |||||||
| LRRC27_chr10_132327193_132386508 | 132364472 | T | CACACCCA others(6265): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 216 | 0.0046 | 6272 | c.129 others(6289): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | chr10 | TogoVar | |||||||
| NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6265): Show |
frameshift_variant others(1): Show |
HIGH | NA20129.hp1 | a0004 | a0004c0135 | a0004c0135t0003 | a0004c0135t0003g0198 | 1 | 263 | 0.0038 | 6272 | c.109 others(6283): Show |
p.Tyr others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | |||
| NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6265): Show |
frameshift_variant others(1): Show |
HIGH | NA18968.hp2 | a0004 | a0004c0124 | a0004c0124t0003 | a0004c0124t0003g0162 | 1 | 263 | 0.0038 | 6272 | c.109 others(6283): Show |
p.Tyr others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | |||
| RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6265): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0096 | 1 | 23 | 0.0435 | 6272 | c.*89 others(6283): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
| ZSCAN2_chr15_84596009_84628716 | 84597662 | T | TAAGATGT others(6265): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 389 | 0.0026 | 6272 | c.-35 others(6283): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 3346 | chr15 | TogoVar | |||||||
| ZSCAN2_chr15_84596009_84628716 | 84597662 | T | TAAGATGT others(6266): Show |
upstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 389 | 0.0026 | 6273 | c.-35 others(6284): Show |
ZSCAN2 | ENSG00000176371.14 | transcript | ENST00000546148.6 | protein_coding | 3346 | chr15 | TogoVar |