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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EIF2AK1_chr7_6017247_6064175 | 6056613 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0047 | 1 | 129 | 0.0078 | 37 | c.119 others(54): Show |
EIF2AK1 | ENSG00000086232.13 | transcript | ENST00000199389.11 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
EIF2B2_chr14_74997921_75017366 | 75017201 | T | TCTATGGG others(30): Show |
downstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0045 | 1 | 324 | 0.0031 | 37 | c.*80 others(48): Show |
EIF2B2 | ENSG00000119718.11 | transcript | ENST00000266126.10 | protein_coding | 4836 | chr14 | TogoVar | |||||||
EIF2B3_chr1_44845522_44991595 | 44951954 | A | ATTTTTTT others(30): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 100 | 0.0100 | 37 | c.295 others(56): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 3/11 | chr1 | TogoVar | |||||||
EIF3A_chr10_119028670_119085817 | 119084844 | G | GCTGTACA others(30): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0277 | 1 | 348 | 0.0029 | 37 | c.-41 others(48): Show |
EIF3A | ENSG00000107581.14 | transcript | ENST00000369144.8 | protein_coding | 4028 | chr10 | TogoVar | |||||||
EIF3K_chr19_38614188_38641954 | 38637325 | C | CTTTTTTT others(30): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 308 | 0.0032 | 37 | c.*40 others(46): Show |
EIF3K | ENSG00000178982.10 | transcript | ENST00000248342.9 | protein_coding | 372 | chr19 | TogoVar | |||||||
EIF3K_chr19_38614188_38641954 | 38637330 | T | TTTTTTTT others(30): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0191 | 1 | 398 | 0.0025 | 37 | c.*41 others(46): Show |
EIF3K | ENSG00000178982.10 | transcript | ENST00000248342.9 | protein_coding | 377 | chr19 | TogoVar | |||||||
EIF3L_chr22_37844419_37894407 | 37868634 | C | CTTTTTTT others(30): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0289 | 1 | 57 | 0.0175 | 37 | c.580 others(54): Show |
EIF3L | ENSG00000100129.18 | transcript | ENST00000652021.1 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EIF4ENIF1_chr22_31434367_31494842 | 31464699 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0350 | 1 | 195 | 0.0051 | 37 | c.299 others(52): Show |
EIF4ENIF1 | ENSG00000184708.18 | transcript | ENST00000330125.10 | protein_coding | 4/18 | chr22 | TogoVar | |||||||
EIF4ENIF1_chr22_31434367_31494842 | 31464699 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0325 | 1 | 195 | 0.0051 | 37 | c.299 others(52): Show |
EIF4ENIF1 | ENSG00000184708.18 | transcript | ENST00000330125.10 | protein_coding | 4/18 | chr22 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21180024 | T | TATATTAC others(30): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp1 others(59): Show |
a0001a0002a0007 | a0001c0001a0001c0009a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(6): Show | a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 others(59): Show |
62 | 280 | 0.2214 | 37 | c.-37 others(48): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3128 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21180024 | T | TATATTAC others(30): Show |
upstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 219 | 0.0046 | 37 | c.-37 others(48): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3128 | chr1 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315186 | C | CATCACCA others(30): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02145.hp1 HG02258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0165 a0001c0001t0001g0178 a0001c0001t0001g0246 others(5): Show |
8 | 248 | 0.0323 | 37 | c.259 others(56): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315187 | A | ATCACCAC others(30): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02717.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 others(1): Show |
4 | 242 | 0.0165 | 37 | c.259 others(56): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315320 | C | CCCCCTAC others(30): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00621.hp2 others(28): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0023 others(28): Show |
31 | 230 | 0.1348 | 37 | c.259 others(56): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315335 | A | ATCACCAC others(30): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 244 | 0.0041 | 37 | c.259 others(56): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315463 | C | CCACACCC others(30): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 245 | 0.0041 | 37 | c.259 others(56): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315483 | A | ATCACCAC others(30): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 221 | 0.0045 | 37 | c.259 others(56): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315500 | C | CCACACCC others(30): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 242 | 0.0041 | 37 | c.259 others(56): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315594 | A | ATCACCAC others(30): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03225.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0001 | a0001c0001t0002g0010 a0001c0005t0001g0104 |
2 | 247 | 0.0081 | 37 | c.259 others(56): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315654 | C | CCCCCTAC others(30): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0247 | 1 | 229 | 0.0044 | 37 | c.259 others(56): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315836 | C | CCCCCTAC others(30): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 199 | 0.0050 | 37 | c.259 others(56): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ELAC2_chr17_12986612_13023027 | 13022550 | C | CTTCCTTC others(30): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG02055.hp1 HG02109.hp1 |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0006a0002c0002t0027 | a0002c0002t0005g0095 a0002c0002t0006g0020 a0002c0002t0027g0078 |
3 | 223 | 0.0135 | 37 | c.-46 others(48): Show |
ELAC2 | ENSG00000006744.19 | transcript | ENST00000338034.9 | protein_coding | 4524 | chr17 | TogoVar | |||||||
ELF2_chr4_139052265_139182218 | 139114561 | T | TCCAGTCT others(30): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01257.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 a0001c0001t0001g0313 |
2 | 70 | 0.0286 | 37 | c.238 others(56): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
ELFN1_chr7_1665277_1752946 | 1719298 | G | GCCCCGCC others(30): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(35): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0238 others(33): Show |
38 | 297 | 0.1279 | 37 | c.-29 others(58): Show |
ELFN1 | ENSG00000225968.8 | transcript | ENST00000424383.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ELL_chr19_18437663_18527070 | 18454840 | C | CAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01261.hp2 NA18970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0231 others(1): Show |
4 | 109 | 0.0367 | 37 | c.870 others(54): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 6/11 | chr19 | TogoVar | |||||||
ELMO2_chr20_46361050_46411615 | 46411193 | G | GCGGGTGT others(30): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 72 | 0.0139 | 37 | c.-47 others(48): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4579 | chr20 | TogoVar | |||||||
ELMO2_chr20_46361050_46411615 | 46411193 | G | GGGCGGGG others(30): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 72 | 0.0139 | 37 | c.-47 others(48): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4579 | chr20 | TogoVar | |||||||
ELMO2_chr20_46361050_46411615 | 46411193 | G | GGGCGGGT others(30): Show |
upstream_gene_variant | MODIFIER | HG01517.hp1 HG02273.hp2 NA18994.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0088 a0001c0001t0003g0050 a0001c0001t0004g0018 others(1): Show |
4 | 75 | 0.0533 | 37 | c.-47 others(48): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4579 | chr20 | TogoVar | |||||||
ELMO2_chr20_46361050_46411615 | 46411193 | G | GGGGGGGC others(30): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0007 | 1 | 72 | 0.0139 | 37 | c.-47 others(48): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4579 | chr20 | TogoVar | |||||||
ELMO2_chr20_46361050_46411615 | 46411193 | G | GGGGGGGG others(30): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0024 | 1 | 72 | 0.0139 | 37 | c.-47 others(48): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4579 | chr20 | TogoVar | |||||||
ELSPBP1_chr19_47989632_48030154 | 48023447 | A | AAAGGGGA others(30): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0351 | 1 | 380 | 0.0026 | 37 | c.*7+ others(52): Show |
ELSPBP1 | ENSG00000169393.10 | transcript | ENST00000339841.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ELSPBP1_chr19_47989632_48030154 | 48028497 | C | CTTTTTTT others(30): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 222 | 0.0045 | 37 | c.*35 others(48): Show |
ELSPBP1 | ENSG00000169393.10 | transcript | ENST00000339841.7 | protein_coding | 3344 | chr19 | TogoVar | |||||||
EML4_chr2_42164353_42337548 | 42245094 | C | CTTTTTTT others(30): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0207 | 1 | 47 | 0.0213 | 37 | c.26- others(50): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54882857 | C | CAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG01516.hp1 HG02738.hp1 NA18951.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0011a0001c0003t0001a0001c0003t0009 | a0001c0002t0011g0108 a0001c0003t0001g0261 a0001c0003t0009g0100 |
3 | 96 | 0.0313 | 37 | c.243 others(56): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 17/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54882873 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03834.hp1 |
a0001 | a0001c0002 | a0001c0002t0020a0001c0002t0023 | a0001c0002t0020g0162 a0001c0002t0023g0142 |
2 | 223 | 0.0090 | 37 | c.243 others(56): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 17/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54961184 | G | GTTGTTTT others(30): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 22 | 0.0455 | 37 | c.496 others(54): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 35/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43416204 | C | CAGCCGGG others(30): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02559.hp1 HG02615.hp1 others(6): Show |
a0001a0002 | a0001c0002a0002c0004a0002c0006others(1): Show | a0001c0002t0001a0002c0004t0001a0002c0004t0015others(5): Show | a0001c0002t0001g0030 a0002c0004t0001g0069 a0002c0004t0015g0070 others(6): Show |
9 | 144 | 0.0625 | 37 | c.-74 others(54): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43651695 | T | TAAAAAAA others(30): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0175 | 1 | 117 | 0.0085 | 37 | c.-21 others(58): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | |||||||
ENPP6_chr4_184083706_184222873 | 184174629 | T | TAACCTGC others(30): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0169 | 1 | 318 | 0.0031 | 37 | c.242 others(56): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 1/7 | chr4 | TogoVar | |||||||
ENPP6_chr4_184083706_184222873 | 184174631 | C | CCCTGCCA others(30): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(224): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0001c0005others(9): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(23): Show | a0001c0002t0001g0041 a0001c0002t0001g0076 a0001c0002t0001g0152 others(221): Show |
227 | 317 | 0.7161 | 37 | c.242 others(56): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 1/7 | chr4 | TogoVar | |||||||
ENPP6_chr4_184083706_184222873 | 184174644 | T | TGTCAGAA others(30): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01167.hp2 HG01884.hp2 others(36): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(8): Show | a0001c0002t0001g0063 a0001c0002t0001g0139 a0001c0002t0002g0082 others(36): Show |
39 | 318 | 0.1226 | 37 | c.242 others(56): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 1/7 | chr4 | TogoVar | |||||||
ENTPD7_chr10_99654509_99716241 | 99691749 | G | GTAATATT others(30): Show |
intron_variant | MODIFIER | NA19006.hp2 NA19080.hp2 NA19085.hp1 |
a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0132 a0002c0002t0013g0137 a0002c0002t0013g0144 |
3 | 406 | 0.0074 | 37 | c.843 others(52): Show |
ENTPD7 | ENSG00000198018.7 | transcript | ENST00000370489.5 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ENTPD8_chr9_137429364_137446357 | 137441092 | C | CCCCCCAG others(30): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02630.hp1 HG02647.hp1 others(4): Show |
a0001a0004 | a0001c0007a0004c0004 | a0001c0007t0003a0004c0004t0002 | a0001c0007t0003g0022 a0004c0004t0002g0017 a0004c0004t0002g0023 |
7 | 386 | 0.0181 | 37 | c.-21 others(52): Show |
ENTPD8 | ENSG00000188833.10 | transcript | ENST00000371506.7 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
EPB41L4B_chr9_109166974_109326059 | 109288722 | C | CAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0076 | 1 | 11 | 0.0909 | 37 | c.307 others(54): Show |
EPB41L4B | ENSG00000095203.15 | transcript | ENST00000374566.8 | protein_coding | 1/25 | chr9 | TogoVar | |||||||
EPB41_chr1_28909569_29125041 | 28935467 | A | ACACACAC others(30): Show |
intron_variant | MODIFIER | HG01175.hp1 NA18962.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0025a0001c0001t0035 | a0001c0001t0024g0147 a0001c0001t0025g0114 a0001c0001t0035g0044 |
3 | 154 | 0.0195 | 37 | c.-8+ others(54): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPB41_chr1_28909569_29125041 | 28935467 | A | ACACACAC others(30): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0022 a0001c0001t0002g0116 |
2 | 153 | 0.0131 | 37 | c.-8+ others(54): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPB41_chr1_28909569_29125041 | 28935467 | A | ACACACAC others(30): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02683.hp1 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0002a0004c0007t0001 | a0001c0001t0002g0244 a0004c0007t0001g0017 |
2 | 153 | 0.0131 | 37 | c.-8+ others(54): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPB41_chr1_28909569_29125041 | 28935468 | C | CACACACA others(30): Show |
intron_variant | MODIFIER | HG02738.hp2 NA18959.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0072 a0001c0001t0002g0109 |
2 | 275 | 0.0073 | 37 | c.-8+ others(54): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | chr1 | TogoVar | |||||||
EPC2_chr2_148639751_148792569 | 148774622 | T | TTATATTA others(30): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0119 | 1 | 210 | 0.0048 | 37 | c.172 others(56): Show |
EPC2 | ENSG00000135999.12 | transcript | ENST00000258484.11 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EPHA6_chr3_96809594_97766532 | 97311804 | T | TTTCAAAA others(30): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01192.hp1 HG01256.hp2 others(19): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0006others(14): Show | a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0043 others(19): Show |
22 | 82 | 0.2683 | 37 | c.160 others(58): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |