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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DIP2C_chr10_269201_694668 | 321898 | C | CTGTTAGA others(91): Show |
intron_variant | MODIFIER | HG02300.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0042 |
2 | 75 | 0.0267 | 98 | c.392 others(117): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 322045 | C | CTGTTAGA others(91): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 | 1 | 64 | 0.0156 | 98 | c.392 others(117): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 322667 | G | GGCGAGAG others(91): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0018 | 1 | 62 | 0.0161 | 98 | c.392 others(117): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 322712 | C | CTCCGGCG others(91): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0020 | 1 | 76 | 0.0132 | 98 | c.392 others(117): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 322731 | C | CTGTTAGA others(91): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 69 | 0.0145 | 98 | c.392 others(117): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 322963 | T | TGAGAGAC others(91): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0052 | 1 | 45 | 0.0222 | 98 | c.392 others(117): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 322976 | C | CTGTTAGA others(91): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0018 | 1 | 79 | 0.0127 | 98 | c.392 others(117): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 323008 | C | CCAGTGAG others(91): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0020 | 1 | 88 | 0.0114 | 98 | c.392 others(117): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 323055 | C | CTCCGGCG others(91): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0083 | 1 | 88 | 0.0114 | 98 | c.392 others(117): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 323110 | C | CGAGAGGC others(91): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 76 | 0.0132 | 98 | c.392 others(117): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 323319 | C | CTGTTAGA others(91): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 67 | 0.0149 | 98 | c.392 others(117): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 323355 | C | CGAGAGAC others(91): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0053 | 1 | 79 | 0.0127 | 98 | c.392 others(117): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13218856 | T | TTATATAT others(91): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0041 | a0002c0002t0041g0040 | 1 | 68 | 0.0147 | 98 | c.134 others(119): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3741272 | A | ACCACCAT others(91): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0040 | 1 | 76 | 0.0132 | 98 | c.135 others(117): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 6/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 4265628 | T | TCCTTCCT others(91): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01981.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0005 | a0001c0001t0001g0018 a0001c0005t0005g0038 |
2 | 79 | 0.0253 | 98 | c.-26 others(121): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1456806 | C | CGTGAGCC others(91): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02071.hp2 HG02895.hp1 others(2): Show |
a0001a0003 | a0001c0003a0001c0012a0003c0005 | a0001c0003t0001a0001c0012t0004a0003c0005t0002others(1): Show | a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0012t0004g0036 others(2): Show |
5 | 6 | 0.8333 | 98 | c.107 others(117): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1456806 | C | CGTGAGCC others(91): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01071.hp1 others(31): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0001c0009others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(27): Show | a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0002g0022 others(31): Show |
34 | 35 | 0.9714 | 98 | c.107 others(117): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1456848 | G | GGCTGTGC others(91): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0001 | a0002c0001t0020 | a0002c0001t0020g0024 | 1 | 40 | 0.0250 | 98 | c.107 others(117): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLL3_chr19_39493947_39513469 | 39498176 | T | TGGATCTT others(91): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 HG02630.hp2 HG03225.hp2 |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0004c0004t0001 | a0002c0002t0001g0021 a0004c0004t0001g0002 |
3 | 426 | 0.0070 | 98 | c.-79 others(107): Show |
DLL3 | ENSG00000090932.11 | transcript | ENST00000356433.10 | protein_coding | 770 | chr19 | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33009977 | T | TATACACA others(91): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0021 | a0021c0060 | a0021c0060t0001 | a0021c0060t0001g0113 | 1 | 126 | 0.0079 | 98 | c.93+ others(115): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMRT1_chr9_836697_974090 | 902479 | C | CAGTGCTG others(91): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01928.hp2 HG02056.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0003others(2): Show | a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0004g0180 others(7): Show |
10 | 304 | 0.0329 | 98 | c.822 others(115): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 3/4 | chr9 | TogoVar | |||||||
DNAJC4_chr11_64225548_64239281 | 64237127 | G | GAGAGAGA others(91): Show |
downstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 288 | 0.0035 | 98 | c.*29 others(109): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2847 | chr11 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 277460 | A | AAGAGAAG others(91): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0049 | a0001c0049t0004 | a0001c0049t0004g0057 | 1 | 217 | 0.0046 | 98 | c.156 others(115): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 2/47 | chr9 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 277460 | A | AAGAGAAG others(91): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02886.hp2 |
a0005a0011 | a0005c0145a0011c0148 | a0005c0145t0001a0011c0148t0017 | a0005c0145t0001g0172 a0011c0148t0017g0070 |
2 | 218 | 0.0092 | 98 | c.156 others(115): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 2/47 | chr9 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89635185 | C | CCCTTCCT others(91): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02976.hp2 |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0049 a0003c0004t0002g0050 a0003c0004t0002g0233 |
3 | 246 | 0.0122 | 98 | c.105 others(113): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPH7_chr9_137549444_137583925 | 137551649 | C | CAGCCCCG others(91): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG00738.hp2 HG02630.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0101 a0001c0001t0001g0157 others(1): Show |
4 | 182 | 0.0220 | 98 | c.*35 others(109): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 2794 | chr9 | TogoVar | |||||||
EBF3_chr10_129830233_129969274 | 129920067 | G | GGTCTAGG others(91): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02572.hp2 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(1): Show | a0001c0001t0001g0190 a0001c0001t0004g0193 a0001c0001t0011g0260 others(1): Show |
4 | 321 | 0.0125 | 98 | c.554 others(117): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 6/16 | chr10 | TogoVar | |||||||
EBF3_chr10_129830233_129969274 | 129920077 | G | GAGTATCT others(91): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0198 | 1 | 138 | 0.0072 | 98 | c.554 others(117): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 6/16 | chr10 | TogoVar | |||||||
EBF3_chr10_129830233_129969274 | 129920116 | G | GGTCTAGG others(91): Show |
intron_variant | MODIFIER | HG02523.hp2 HG03491.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0034 | a0001c0001t0004g0158 a0001c0001t0034g0178 |
2 | 334 | 0.0060 | 98 | c.554 others(117): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 6/16 | chr10 | TogoVar | |||||||
EDA_chrX_69611113_70044472 | 69645586 | A | ATATATAT others(91): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01358.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0103 a0001c0001t0003g0039 |
2 | 219 | 0.0091 | 98 | c.396 others(117): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107476047 | T | TATATATA others(91): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0073 | a0001c0001t0073g0012 | 1 | 162 | 0.0062 | 98 | c.126 others(117): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EGFLAM_chr5_38253559_38470480 | 38396045 | T | TTCACTGT others(91): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0106 | 1 | 159 | 0.0063 | 98 | c.713 others(117): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
EIF2B3_chr1_44845522_44991595 | 44942386 | T | TATATATG others(91): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0314 | 1 | 320 | 0.0031 | 98 | c.295 others(113): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 3/11 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 20989056 | A | AGGAGAGG others(91): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 104 | 0.0096 | 98 | c.178 others(115): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 7/36 | chr1 | TogoVar | |||||||
ELF1_chr13_40926924_41024316 | 40955543 | T | TAGGTGGG others(91): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0143 a0001c0001t0008g0284 |
2 | 7 | 0.2857 | 98 | c.253 others(115): Show |
ELF1 | ENSG00000120690.16 | transcript | ENST00000239882.7 | protein_coding | 3/8 | chr13 | TogoVar | |||||||
ELF1_chr13_40926924_41024316 | 40955543 | T | TAGGTGGG others(91): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 6 | 0.1667 | 98 | c.253 others(115): Show |
ELF1 | ENSG00000120690.16 | transcript | ENST00000239882.7 | protein_coding | 3/8 | chr13 | TogoVar | |||||||
ELF1_chr13_40926924_41024316 | 40955543 | T | TAGGTGGG others(91): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG01168.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0096 a0001c0003t0001g0097 a0001c0003t0001g0167 |
3 | 8 | 0.3750 | 98 | c.253 others(115): Show |
ELF1 | ENSG00000120690.16 | transcript | ENST00000239882.7 | protein_coding | 3/8 | chr13 | TogoVar | |||||||
ELF1_chr13_40926924_41024316 | 40955543 | T | TAGGTGGG others(91): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(77): Show |
a0001a0011 | a0001c0001a0001c0003a0001c0014others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0040 others(75): Show |
80 | 85 | 0.9412 | 98 | c.253 others(115): Show |
ELF1 | ENSG00000120690.16 | transcript | ENST00000239882.7 | protein_coding | 3/8 | chr13 | TogoVar | |||||||
ELF1_chr13_40926924_41024316 | 40955543 | T | TAGGTGGG others(91): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00673.hp1 others(70): Show |
a0001a0004a0012 | a0001c0001a0001c0005a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(65): Show |
73 | 78 | 0.9359 | 98 | c.253 others(115): Show |
ELF1 | ENSG00000120690.16 | transcript | ENST00000239882.7 | protein_coding | 3/8 | chr13 | TogoVar | |||||||
ELF1_chr13_40926924_41024316 | 40955543 | T | TAGGTGGG others(91): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(63): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0003a0005c0007others(2): Show | a0001c0001t0001a0001c0001t0014a0001c0003t0001others(4): Show | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 others(62): Show |
66 | 71 | 0.9296 | 98 | c.253 others(115): Show |
ELF1 | ENSG00000120690.16 | transcript | ENST00000239882.7 | protein_coding | 3/8 | chr13 | TogoVar | |||||||
ELL2_chr5_95880098_95966851 | 95927452 | C | CACACACA others(91): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0233 | 1 | 225 | 0.0044 | 98 | c.196 others(115): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 2/11 | chr5 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110083967 | G | GATATAAC others(91): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0153 | 1 | 56 | 0.0179 | 98 | c.221 others(117): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
EMC10_chr19_50471507_50495871 | 50493653 | G | GACTCCTG others(91): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0002 | a0001c0002t0116 | a0001c0002t0116g0029 | 1 | 3 | 0.3333 | 98 | c.*11 others(111): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 2783 | chr19 | TogoVar | |||||||
EMC10_chr19_50471507_50495871 | 50493653 | G | GACTCCTG others(91): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0001 | 1 | 3 | 0.3333 | 98 | c.*11 others(111): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 2783 | chr19 | TogoVar | |||||||
EMC10_chr19_50471507_50495871 | 50493653 | G | GACTCCTG others(91): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0009 | a0002c0009t0008 | a0002c0009t0008g0001 | 1 | 3 | 0.3333 | 98 | c.*11 others(111): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 2783 | chr19 | TogoVar | |||||||
EMC10_chr19_50471507_50495871 | 50493653 | G | GACTCCTG others(91): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG02015.hp2 |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0138 | a0001c0001t0029g0002 a0001c0001t0138g0002 |
2 | 4 | 0.5000 | 98 | c.*11 others(111): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 2783 | chr19 | TogoVar | |||||||
EMC10_chr19_50471507_50495871 | 50493653 | G | GACTCCTG others(91): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(320): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(160): Show | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0025 others(197): Show |
323 | 325 | 0.9938 | 98 | c.*11 others(111): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 2783 | chr19 | TogoVar | |||||||
EMC10_chr19_50471507_50495871 | 50493653 | G | GACTCCTG others(91): Show |
downstream_gene_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0002 | a0001c0002t0052 | a0001c0002t0052g0050 | 1 | 3 | 0.3333 | 98 | c.*11 others(111): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 2783 | chr19 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43616091 | T | TATATCTA others(91): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01891.hp1 HG02135.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0063 a0001c0001t0003g0123 a0001c0001t0004g0044 others(19): Show |
22 | 141 | 0.1560 | 98 | c.-21 others(119): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | |||||||
EPDR1_chr7_37915640_37956936 | 37936005 | T | TATATATA others(91): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 446 | 0.0022 | 98 | c.270 others(117): Show |
EPDR1 | ENSG00000086289.13 | transcript | ENST00000199448.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |