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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARMH3_chr10_101840599_102061173 | 101978238 | T | TAAATCTG others(1614): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0259 | 1 | 262 | 0.0038 | 1621 | c.140 others(1640): Show |
ARMH3 | ENSG00000120029.13 | transcript | ENST00000370033.9 | protein_coding | 19/25 | chr10 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1070458 | A | AGCCACCC others(1614): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0138 | 1 | 326 | 0.0031 | 1621 | c.129 others(1640): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1070458 | A | AGCCACCC others(1614): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01884.hp2 HG01981.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0120 a0001c0001t0010g0122 a0001c0001t0010g0125 others(1): Show |
4 | 326 | 0.0123 | 1621 | c.129 others(1640): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
CAMTA1_chr1_6780454_7774706 | 7520219 | C | CCTCCTCC others(1614): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0017 | a0001c0017t0026 | a0001c0017t0026g0027 | 1 | 58 | 0.0172 | 1621 | c.510 others(1640): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803282 | T | TGGGGGCC others(1614): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 398 | 0.0025 | 1621 | c.666 others(1636): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HDGFL2_chr19_4467297_4507207 | 4492820 | C | CTGTGTGT others(1614): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02486.hp1 others(9): Show |
a0001a0003a0015 | a0001c0002a0003c0006a0015c0032 | a0001c0002t0004a0001c0002t0005a0003c0006t0005others(1): Show | a0001c0002t0004g0067 a0001c0002t0004g0154 a0001c0002t0005g0001 others(8): Show |
12 | 358 | 0.0335 | 1621 | c.679 others(1636): Show |
HDGFL2 | ENSG00000167674.15 | transcript | ENST00000616600.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HDGFL2_chr19_4467297_4507207 | 4492820 | C | CTGTGTGT others(1614): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01074.hp2 others(10): Show |
a0001a0006 | a0001c0002a0006c0005 | a0001c0002t0003a0001c0002t0004a0001c0002t0005others(1): Show | a0001c0002t0003g0020 a0001c0002t0003g0147 a0001c0002t0004g0007 others(10): Show |
13 | 358 | 0.0363 | 1621 | c.679 others(1636): Show |
HDGFL2 | ENSG00000167674.15 | transcript | ENST00000616600.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1614): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0320 | 1 | 402 | 0.0025 | 1621 | c.292 others(1640): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCCGCCC others(1614): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03225.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0254 a0001c0002t0001g0255 |
2 | 256 | 0.0078 | 1621 | c.241 others(1640): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCCGCCC others(1614): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01255.hp1 HG01952.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0046 others(1): Show |
4 | 256 | 0.0156 | 1621 | c.241 others(1640): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCCGCCC others(1614): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0056 | 1 | 256 | 0.0039 | 1621 | c.241 others(1640): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCCGCCC others(1614): Show |
intron_variant | MODIFIER | NA18960.hp1 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 a0001c0001t0002g0024 |
2 | 256 | 0.0078 | 1621 | c.241 others(1640): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCTGCCC others(1614): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 256 | 0.0039 | 1621 | c.241 others(1640): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCTGCCC others(1614): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 256 | 0.0039 | 1621 | c.241 others(1640): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(1614): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0100 | a0001c0100t0001 | a0001c0100t0001g0148 | 1 | 282 | 0.0036 | 1621 | c.299 others(1636): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803282 | T | TGGGGGCC others(1614): Show |
upstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 330 | 0.0030 | 1621 | c.-49 others(1632): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4665 | chr9 | TogoVar | |||||||
RUFY1_chr5_179545554_179615012 | 179594578 | A | AGTGAAAT others(1614): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010 | 1 | 376 | 0.0027 | 1621 | c.141 others(1638): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SVOPL_chr7_138589285_138706362 | 138611875 | G | GCCACCCC others(1614): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0003 | a0002c0003t0011 | a0002c0003t0011g0356 | 1 | 360 | 0.0028 | 1621 | c.135 others(1640): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 14/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138611875 | G | GCCACCCC others(1614): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03209.hp1 |
a0001a0009 | a0001c0001a0009c0024 | a0001c0001t0001a0009c0024t0001 | a0001c0001t0001g0182 a0009c0024t0001g0118 |
2 | 360 | 0.0056 | 1621 | c.135 others(1640): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 14/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138611875 | G | GCCACCCC others(1614): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0296 | 1 | 360 | 0.0028 | 1621 | c.135 others(1640): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 14/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138611875 | G | GCCACCCC others(1614): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0150 | 1 | 360 | 0.0028 | 1621 | c.135 others(1640): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 14/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138611875 | G | GCCACCCC others(1614): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 360 | 0.0028 | 1621 | c.135 others(1640): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 14/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138611875 | G | GCCACCCC others(1614): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 360 | 0.0028 | 1621 | c.135 others(1640): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 14/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138611875 | G | GCCACCCC others(1614): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01258.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0143 a0002c0003t0001g0086 |
2 | 360 | 0.0056 | 1621 | c.135 others(1640): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 14/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138611875 | G | GCCACCCC others(1614): Show |
intron_variant | MODIFIER | HG02970.hp1 NA18906.hp1 NA18906.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0151 a0001c0001t0001g0240 a0002c0003t0001g0347 |
3 | 360 | 0.0083 | 1621 | c.135 others(1640): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 14/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138611875 | G | GCCACCCC others(1614): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0183 | 1 | 360 | 0.0028 | 1621 | c.135 others(1640): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 14/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138611875 | G | GCCACCCC others(1614): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 360 | 0.0028 | 1621 | c.135 others(1640): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 14/15 | chr7 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948608 | A | AGAGGGAG others(1614): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03579.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0236 a0001c0002t0001g0235 |
2 | 356 | 0.0056 | 1621 | c.114 others(1638): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1614): Show |
intron_variant | MODIFIER | HG02559.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 a0001c0001t0001g0193 |
2 | 228 | 0.0088 | 1621 | c.127 others(1638): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CLIC5_chr6_45893456_46020860 | 45956583 | A | AGCGATGC others(1615): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 340 | 0.0029 | 1622 | c.64- others(1637): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(1615): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 240 | 0.0042 | 1622 | c.*31 others(1633): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(1615): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0080 | 1 | 230 | 0.0044 | 1622 | c.724 others(1641): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DLGAP4_chr20_36301339_36533633 | 36314370 | G | GTGGAGGG others(1615): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0004 | 1 | 144 | 0.0069 | 1622 | c.-30 others(1641): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
DLGAP4_chr20_36301339_36533633 | 36314370 | G | GTGGAGGG others(1615): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02809.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0128 a0001c0001t0001g0140 a0001c0001t0017g0141 |
3 | 144 | 0.0208 | 1622 | c.-30 others(1641): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
DLGAP4_chr20_36301339_36533633 | 36314370 | G | GTGGAGGG others(1615): Show |
intron_variant | MODIFIER | HG00544.hp1 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0025 a0001c0001t0003g0024 |
2 | 144 | 0.0139 | 1622 | c.-30 others(1641): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
DLGAP4_chr20_36301339_36533633 | 36314370 | G | GTGGAGGG others(1615): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0110 | 1 | 144 | 0.0069 | 1622 | c.-30 others(1641): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
DLGAP4_chr20_36301339_36533633 | 36314370 | G | GTGGAGGG others(1615): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0026 | 1 | 144 | 0.0069 | 1622 | c.-30 others(1641): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
DLGAP4_chr20_36301339_36533633 | 36314370 | G | GTGGAGGG others(1615): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00741.hp2 HG01081.hp2 others(30): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0034 others(30): Show |
33 | 144 | 0.2292 | 1622 | c.-30 others(1641): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
DLGAP4_chr20_36301339_36533633 | 36314370 | G | GTGGAGGG others(1615): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01884.hp2 HG01891.hp1 others(14): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0001g0139 others(14): Show |
17 | 144 | 0.1181 | 1622 | c.-30 others(1641): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
DLGAP4_chr20_36301339_36533633 | 36314370 | G | GTGGAGGG others(1615): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0085 | 1 | 144 | 0.0069 | 1622 | c.-30 others(1641): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
DLGAP4_chr20_36301339_36533633 | 36314370 | G | GTGTAGGG others(1615): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02922.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0002t0004 | a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 others(2): Show |
5 | 144 | 0.0347 | 1622 | c.-30 others(1641): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240185119 | C | CCCCCTTC others(1615): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0011 | a0011c0122 | a0011c0122t0003 | a0011c0122t0003g0117 | 1 | 174 | 0.0058 | 1622 | c.193 others(1641): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997496 | A | ATCTGCAG others(1615): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 375 | 0.0027 | 1622 | c.-19 others(1633): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 174 | chr6 | TogoVar | |||||||
LDLRAD4_chr18_13213760_13657751 | 13262129 | C | CGTGGGGG others(1615): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02451.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0020others(2): Show | a0001c0001t0002g0087 a0001c0001t0006g0132 a0001c0001t0020g0178 others(2): Show |
5 | 178 | 0.0281 | 1622 | c.-46 others(1643): Show |
LDLRAD4 | ENSG00000168675.19 | transcript | ENST00000359446.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LDLRAD4_chr18_13213760_13657751 | 13262129 | C | CGTGGGGG others(1615): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00597.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0013 a0001c0001t0001g0042 a0001c0001t0001g0097 others(17): Show |
20 | 178 | 0.1124 | 1622 | c.-46 others(1643): Show |
LDLRAD4 | ENSG00000168675.19 | transcript | ENST00000359446.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LDLRAD4_chr18_13213760_13657751 | 13262129 | C | CGTGGGGG others(1615): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0130 | 1 | 178 | 0.0056 | 1622 | c.-46 others(1643): Show |
LDLRAD4 | ENSG00000168675.19 | transcript | ENST00000359446.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LDLRAD4_chr18_13213760_13657751 | 13262129 | C | CGTGGGGG others(1615): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 178 | 0.0056 | 1622 | c.-46 others(1643): Show |
LDLRAD4 | ENSG00000168675.19 | transcript | ENST00000359446.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCCGCCC others(1615): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0011 | a0001c0011t0005 | a0001c0011t0005g0051 | 1 | 256 | 0.0039 | 1622 | c.241 others(1641): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
RAB40B_chr17_82649973_82703698 | 82671976 | C | CACATGCT others(1615): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0052 | 1 | 338 | 0.0030 | 1622 | c.143 others(1639): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RUFY1_chr5_179545554_179615012 | 179594578 | A | AGTGAAAT others(1615): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0032 | 1 | 376 | 0.0027 | 1622 | c.141 others(1639): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |