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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGAP18_chr6_129571132_129715177 | 129619469 | G | GGGGAGGG others(1031): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 236 | 0.0042 | 1038 | c.787 others(1053): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1031): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0217 | 1 | 8 | 0.1250 | 1038 | c.285 others(1057): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1031): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 8 | 0.1250 | 1038 | c.285 others(1057): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1031): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 8 | 0.1250 | 1038 | c.285 others(1057): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1031): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 8 | 0.1250 | 1038 | c.285 others(1057): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCT others(1031): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 223 | 0.0045 | 1038 | c.*36 others(1049): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82972300 | T | TGACCACA others(1031): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01167.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0012others(1): Show | a0001c0001t0022a0001c0007t0005a0001c0012t0001others(1): Show | a0001c0001t0022g0243 a0001c0007t0005g0236 a0001c0012t0001g0125 others(1): Show |
5 | 99 | 0.0505 | 1038 | c.460 others(1055): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1031): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0188 | 1 | 10 | 0.1000 | 1038 | c.327 others(1055): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1031): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0211 | 1 | 8 | 0.1250 | 1038 | c.328 others(1055): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1031): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0120 | 1 | 8 | 0.1250 | 1038 | c.328 others(1055): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(1031): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02976.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009 | a0001c0001t0001g0027 a0001c0001t0004g0028 a0001c0001t0009g0012 others(2): Show |
5 | 10 | 0.5000 | 1038 | c.380 others(1055): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131978121 | A | ATTATTAT others(1031): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 84 | 0.0119 | 1038 | c.-2+ others(1055): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1031): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0190 | 1 | 73 | 0.0137 | 1038 | c.162 others(1057): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1031): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01975.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0179 a0001c0001t0006g0187 |
2 | 74 | 0.0270 | 1038 | c.162 others(1057): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1031): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0219 | 1 | 73 | 0.0137 | 1038 | c.162 others(1057): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1031): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 73 | 0.0137 | 1038 | c.162 others(1057): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1031): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01346.hp2 HG01433.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0217 a0001c0001t0002g0194 a0001c0001t0002g0218 others(1): Show |
4 | 76 | 0.0526 | 1038 | c.162 others(1057): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1031): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 | 1 | 73 | 0.0137 | 1038 | c.162 others(1057): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1031): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203 | 1 | 73 | 0.0137 | 1038 | c.162 others(1057): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1031): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 73 | 0.0137 | 1038 | c.162 others(1057): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203112 | C | CGGCCGCC others(1031): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0234 | 1 | 176 | 0.0057 | 1038 | c.162 others(1057): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203112 | C | CGGCCGCC others(1031): Show |
intron_variant | MODIFIER | HG02015.hp1 NA18612.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0210 a0001c0001t0003g0225 |
2 | 177 | 0.0113 | 1038 | c.162 others(1057): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203112 | C | CGGCCGCC others(1031): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00738.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0016others(3): Show | a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0284 others(21): Show |
24 | 199 | 0.1206 | 1038 | c.162 others(1057): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63486887 | C | CCTGCCCA others(1031): Show |
downstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 366 | 0.0027 | 1038 | c.*14 others(1049): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1126 | chr20 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63492086 | G | GTGGATGG others(1031): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02896.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0021 |
6 | 365 | 0.0164 | 1038 | c.772 others(1055): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1031): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0027 | a0027c0077 | a0027c0077t0002 | a0027c0077t0002g0230 | 1 | 229 | 0.0044 | 1038 | c.228 others(1055): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1031): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0015 | a0015c0027 | a0015c0027t0002 | a0015c0027t0002g0232 | 1 | 229 | 0.0044 | 1038 | c.228 others(1055): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1031): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 HG03195.hp2 |
a0001 | a0001c0009 | a0001c0009t0006a0001c0009t0023 | a0001c0009t0006g0075 a0001c0009t0023g0012 |
2 | 290 | 0.0069 | 1038 | c.-49 others(1049): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1031): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0070 | 1 | 289 | 0.0035 | 1038 | c.-49 others(1049): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(1031): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0144 | 1 | 83 | 0.0120 | 1038 | c.377 others(1055): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
NME8_chr7_37843597_37905397 | 37848245 | G | GAAGAAGG others(1031): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 294 | 0.0034 | 1038 | c.-72 others(1047): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 351 | chr7 | TogoVar | |||||||
NXN_chr17_794310_984776 | 948839 | C | CCCCCCGG others(1031): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0175 | 1 | 228 | 0.0044 | 1038 | c.360 others(1057): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 949673 | C | CCCCCCTG others(1031): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0209 | 1 | 214 | 0.0047 | 1038 | c.360 others(1057): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344611 | G | AGGGGGTT others(1031): Show |
intron_variant | MODIFIER | NA18747.hp2 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 2 | 224 | 0.0089 | 1038 | c.4-1 others(1051): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACAC others(1031): Show |
intron_variant | MODIFIER | NA18948.hp2 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021 | a0001c0001t0002g0074 a0001c0001t0021g0217 |
2 | 137 | 0.0146 | 1038 | c.127 others(1055): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACAC others(1031): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01261.hp2 others(14): Show |
a0001a0006 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0005a0001c0001t0013a0001c0001t0029others(5): Show | a0001c0001t0005g0022 a0001c0001t0005g0053 a0001c0001t0005g0098 others(14): Show |
17 | 152 | 0.1118 | 1038 | c.127 others(1055): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | AAATATAT others(1031): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0007 | 1 | 28 | 0.0357 | 1038 | c.-50 others(1049): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(1031): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 2 | 29 | 0.0690 | 1038 | c.-50 others(1049): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
TMC2_chr20_2531573_2648580 | 2546636 | T | TGATCAAC others(1031): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0023 | a0023c0039 | a0023c0039t0001 | a0023c0039t0001g0232 | 1 | 342 | 0.0029 | 1038 | c.82+ others(1053): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747431 | G | GCTGGGGT others(1031): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02293.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0075 | a0001c0001t0011g0002 a0001c0001t0075g0181 |
2 | 283 | 0.0071 | 1038 | c.189 others(1053): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1031): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0014 | 1 | 50 | 0.0200 | 1038 | c.*24 others(1049): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(1031): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 62 | 0.0161 | 1038 | c.*53 others(1049): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | |||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CTCCTCTC others(1031): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0004 | 1 | 2 | 0.5000 | 1038 | c.*53 others(1049): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(1031): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0003 | a0003c0008 | a0003c0008t0005 | a0003c0008t0005g0024 | 1 | 119 | 0.0084 | 1038 | c.*51 others(1049): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(1031): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 100 | 0.0100 | 1038 | c.-10 others(1055): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(1032): Show |
3_prime_UTR_variant | MODIFIER | HG03927.hp1 NA19067.hp1 |
a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0016 a0001c0002t0034g0074 |
2 | 14 | 0.1429 | 1039 | c.*23 others(1050): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(1032): Show |
3_prime_UTR_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0087 | a0001c0002t0087g0303 | 1 | 13 | 0.0769 | 1039 | c.*23 others(1050): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GGCGCCTG others(1032): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0063 | 1 | 197 | 0.0051 | 1039 | c.578 others(1052): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1032): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 3 | 0.3333 | 1039 | c.787 others(1054): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1032): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 3 | 0.3333 | 1039 | c.787 others(1054): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar |