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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC18B1_chr6_132764370_132803637 | 132792291 | G | GAAAGAAA others(166): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0065 | 1 | 304 | 0.0033 | 173 | c.184 others(190): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
SLC25A15_chr13_40784611_40817460 | 40808646 | G | GATACGGG others(166): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0149 a0001c0001t0018g0148 |
2 | 416 | 0.0048 | 173 | c.781 others(187): Show |
SLC25A15 | ENSG00000102743.16 | transcript | ENST00000338625.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249327 | A | AGGAGGGA others(166): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0005 | a0001c0005t0016 | a0001c0005t0016g0184 | 1 | 214 | 0.0047 | 173 | c.206 others(192): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
SLC66A2_chr18_79897420_79956653 | 79916262 | A | AGTGCTCC others(166): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0151 | 1 | 352 | 0.0028 | 173 | c.608 others(190): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 5/5 | chr18 | TogoVar | |||||||
SLC66A2_chr18_79897420_79956653 | 79916265 | G | GCTCCCGT others(166): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02040.hp2 HG02165.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0070 a0001c0001t0001g0071 |
3 | 352 | 0.0085 | 173 | c.608 others(190): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 5/5 | chr18 | TogoVar | |||||||
SLC9A3_chr5_465456_529449 | 495377 | G | GCTCCGCG others(166): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01358.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0017others(4): Show | a0001c0001t0001g0114 a0001c0001t0001g0137 a0001c0001t0011g0117 others(5): Show |
8 | 218 | 0.0367 | 173 | c.212 others(190): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
SLC9A3_chr5_465456_529449 | 502907 | C | CGCTGTAA others(166): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 218 | 0.0046 | 173 | c.212 others(192): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
SMIM13_chr6_11088834_11143733 | 11117329 | A | AATTTTTT others(166): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02040.hp1 NA19010.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 others(1): Show |
4 | 400 | 0.0100 | 173 | c.77- others(190): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246402367 | T | TAACAACG others(166): Show |
intron_variant | MODIFIER | NA19000.hp1 NA19090.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0090 a0001c0002t0002g0083 |
2 | 150 | 0.0133 | 173 | c.165 others(192): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157827182 | T | TTATAGTT others(166): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0263 | 1 | 302 | 0.0033 | 173 | c.12+ others(188): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230499510 | A | ATATATAT others(166): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18967.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 a0001c0001t0002g0070 |
2 | 290 | 0.0069 | 173 | c.172 others(190): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 19/28 | chr2 | TogoVar | |||||||
SPDYE4_chr17_8745853_8763546 | 8746874 | C | CCCTCCCC others(166): Show |
downstream_gene_variant | MODIFIER | HG01975.hp2 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 2 | 418 | 0.0048 | 173 | c.*54 others(184): Show |
SPDYE4 | ENSG00000183318.12 | transcript | ENST00000689094.1 | protein_coding | 3978 | chr17 | TogoVar | |||||||
SPDYE4_chr17_8745853_8763546 | 8746874 | C | CCCTTCCC others(166): Show |
downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 418 | 0.0024 | 173 | c.*54 others(184): Show |
SPDYE4 | ENSG00000183318.12 | transcript | ENST00000689094.1 | protein_coding | 3978 | chr17 | TogoVar | |||||||
STK32A_chr5_147230026_147392855 | 147234632 | C | CCCCCCCC others(166): Show |
upstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0229 | 1 | 316 | 0.0032 | 173 | c.-66 others(182): Show |
STK32A | ENSG00000169302.16 | transcript | ENST00000397936.8 | protein_coding | 393 | chr5 | TogoVar | |||||||
STMN3_chr20_63634712_63658424 | 63641825 | C | CCTCCGAG others(166): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0224 | 1 | 388 | 0.0026 | 173 | c.483 others(188): Show |
STMN3 | ENSG00000197457.10 | transcript | ENST00000370053.3 | protein_coding | 4/4 | chr20 | TogoVar | |||||||
TALDO1_chr11_742464_770012 | 763236 | C | CCCCCGCC others(166): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 416 | 0.0024 | 173 | c.462 others(186): Show |
TALDO1 | ENSG00000177156.11 | transcript | ENST00000319006.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82925985 | C | CTCCTCCC others(166): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01433.hp1 HG02004.hp2 others(1): Show |
a0001a0008a0018 | a0001c0002a0008c0045a0018c0039 | a0001c0002t0010a0008c0045t0010a0018c0039t0010 | a0001c0002t0010g0083 a0001c0002t0010g0099 a0008c0045t0010g0082 others(1): Show |
4 | 318 | 0.0126 | 173 | c.238 others(190): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 27/38 | chr17 | TogoVar | |||||||
TBCE_chr1_235362427_235457443 | 235412193 | C | CCCCTCCC others(166): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0050 | 1 | 268 | 0.0037 | 173 | c.186 others(190): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1627981 | C | CAGGGGGT others(166): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0135 | 1 | 352 | 0.0028 | 173 | c.299 others(188): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1627985 | G | GGTGGGGC others(166): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0010 | a0010c0023 | a0010c0023t0051 | a0010c0023t0051g0140 | 1 | 352 | 0.0028 | 173 | c.299 others(188): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1628186 | C | CAGGGGGT others(166): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0135 | 1 | 352 | 0.0028 | 173 | c.299 others(188): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1628288 | C | CAGGGGGT others(166): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0251 | 1 | 352 | 0.0028 | 173 | c.299 others(188): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1628580 | G | GGGGACAG others(166): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0098 | 1 | 352 | 0.0028 | 173 | c.299 others(190): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273788 | C | CCGCCATC others(166): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0216 | 1 | 392 | 0.0026 | 173 | c.228 others(192): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TEX19_chr17_82354247_82368775 | 82360453 | G | GTTCCCTC others(166): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 380 | 0.0026 | 173 | c.-27 others(192): Show |
TEX19 | ENSG00000182459.5 | transcript | ENST00000333437.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
THBS3_chr1_155190588_155212897 | 155190952 | G | GCCGAGGT others(166): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG02922.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 3 | 298 | 0.0101 | 173 | c.*48 others(184): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4635 | chr1 | TogoVar | |||||||
THOP1_chr19_2780503_2820807 | 2818263 | A | ACCAAGGA others(166): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0060 | 1 | 370 | 0.0027 | 173 | c.*49 others(184): Show |
THOP1 | ENSG00000172009.15 | transcript | ENST00000307741.11 | protein_coding | 2457 | chr19 | TogoVar | |||||||
TH_chr11_2158929_2176815 | 2161579 | G | GACCCCTG others(166): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 NA20129.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 a0001c0003t0001g0014 |
2 | 388 | 0.0052 | 173 | c.*26 others(184): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2349 | chr11 | TogoVar | |||||||
TIAM2_chr6_154990315_155262723 | 155029110 | A | ACATACAC others(166): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0161 | 1 | 230 | 0.0044 | 173 | c.-20 others(194): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 1/26 | chr6 | TogoVar | |||||||
TLN2_chr15_62385550_62849631 | 62825813 | T | TATTATAT others(166): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0039 | a0002c0039t0024 | a0002c0039t0024g0142 | 1 | 144 | 0.0069 | 173 | c.700 others(192): Show |
TLN2 | ENSG00000171914.17 | transcript | ENST00000636159.2 | protein_coding | 54/58 | chr15 | TogoVar | |||||||
TMEM266_chr15_76054985_76209963 | 76080304 | A | ATGCAGTG others(166): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0242 | 1 | 274 | 0.0037 | 173 | c.-12 others(194): Show |
TMEM266 | ENSG00000169758.13 | transcript | ENST00000388942.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TMEM67_chr8_93749894_93823121 | 93808464 | T | TATCTATT others(166): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0037 | 1 | 318 | 0.0031 | 173 | c.244 others(190): Show |
TMEM67 | ENSG00000164953.17 | transcript | ENST00000453321.8 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TMTC2_chr12_82681906_83139866 | 82876072 | A | ATGGTGAT others(166): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0087 | 1 | 96 | 0.0104 | 173 | c.654 others(192): Show |
TMTC2 | ENSG00000179104.9 | transcript | ENST00000321196.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143322048 | A | ACAAACGC others(166): Show |
intron_variant | MODIFIER | HG00738.hp2 NA18990.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0129 a0001c0008t0001g0069 |
2 | 430 | 0.0047 | 173 | c.961 others(188): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | |||||||
TPR_chr1_186306652_186380253 | 186327192 | T | TAAATATA others(166): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 408 | 0.0025 | 173 | c.588 others(190): Show |
TPR | ENSG00000047410.14 | transcript | ENST00000367478.9 | protein_coding | 40/50 | chr1 | TogoVar | |||||||
TSEN34_chr19_54186308_54199532 | 54188015 | C | CAGAAAGA others(166): Show |
upstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 431 | 0.0023 | 173 | c.-33 others(184): Show |
TSEN34 | ENSG00000170892.13 | transcript | ENST00000396388.3 | protein_coding | 3292 | chr19 | TogoVar | |||||||
TSPEAR_chr21_44492893_44716572 | 44534234 | G | GGGGTGGG others(166): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0023 others(2): Show |
5 | 294 | 0.0170 | 173 | c.304 others(188): Show |
TSPEAR | ENSG00000175894.18 | transcript | ENST00000323084.9 | protein_coding | 2/11 | chr21 | TogoVar | |||||||
TTC7B_chr14_90519564_90821430 | 90695851 | T | TAGAAGAG others(166): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0006 | a0001c0006t0012 | a0001c0006t0012g0003 | 1 | 200 | 0.0050 | 173 | c.699 others(188): Show |
TTC7B | ENSG00000165914.15 | transcript | ENST00000328459.11 | protein_coding | 5/19 | chr14 | TogoVar | |||||||
TTC7B_chr14_90519564_90821430 | 90797290 | T | TAAAAATA others(166): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG00639.hp1 others(62): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0060 a0001c0001t0001g0182 a0001c0001t0002g0187 others(61): Show |
65 | 200 | 0.3250 | 173 | c.122 others(192): Show |
TTC7B | ENSG00000165914.15 | transcript | ENST00000328459.11 | protein_coding | 1/19 | chr14 | TogoVar | |||||||
TTC7B_chr14_90519564_90821430 | 90797290 | T | TAAAAATA others(166): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03139.hp2 |
a0001 | a0001c0002 | a0001c0002t0072a0001c0002t0116 | a0001c0002t0072g0081 a0001c0002t0116g0056 |
2 | 200 | 0.0100 | 173 | c.122 others(192): Show |
TTC7B | ENSG00000165914.15 | transcript | ENST00000328459.11 | protein_coding | 1/19 | chr14 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50028623 | C | CCCCACAC others(166): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0172 | 1 | 224 | 0.0045 | 173 | c.225 others(192): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50029190 | A | ACCCCCAC others(166): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0201 | 1 | 224 | 0.0045 | 173 | c.225 others(192): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291344 | C | CCGTGTCC others(166): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 284 | 0.0035 | 173 | c.121 others(192): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
UHRF1_chr19_4904501_4967154 | 4965577 | G | GCCACTGC others(166): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0311 | 1 | 316 | 0.0032 | 173 | c.*47 others(184): Show |
UHRF1 | ENSG00000276043.5 | transcript | ENST00000650932.1 | protein_coding | 3424 | chr19 | TogoVar | |||||||
USF3_chr3_113643385_113701642 | 113683243 | C | CTCTTATC others(166): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18965.hp1 |
a0002a0014 | a0002c0003a0014c0034 | a0002c0003t0001a0014c0034t0001 | a0002c0003t0001g0081 a0014c0034t0001g0079 |
2 | 342 | 0.0059 | 173 | c.-13 others(192): Show |
USF3 | ENSG00000176542.10 | transcript | ENST00000316407.9 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
VCX2_chrX_8164944_8176267 | 8169109 | C | CCTCCCTC others(166): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0026 | 1 | 115 | 0.0087 | 173 | c.*92 others(182): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 834 | chrX | TogoVar | |||||||
VCX2_chrX_8164944_8176267 | 8169294 | C | CCACCTCT others(166): Show |
downstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 115 | 0.0087 | 173 | c.*73 others(182): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 649 | chrX | TogoVar | |||||||
VPS8_chr3_184807166_185057604 | 184895614 | C | CCCCCCCT others(166): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01261.hp1 HG01884.hp1 others(2): Show |
a0003a0004a0005 | a0003c0004a0004c0008a0005c0011 | a0003c0004t0005a0004c0008t0006a0005c0011t0004 | a0003c0004t0005g0005 a0004c0008t0006g0017 a0005c0011t0004g0258 others(2): Show |
5 | 274 | 0.0183 | 173 | c.200 others(190): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58137180 | A | ATCATATA others(166): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 1 | 340 | 0.0029 | 173 | c.856 others(190): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58137182 | C | CATATATG others(166): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0076 a0002c0002t0002g0077 |
2 | 340 | 0.0059 | 173 | c.856 others(190): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |