regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ESRP1_chr8_94636174_94712466 | 94682933 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 374 | 0.0027 | 17 | c.182 others(36): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 13/15 | chr8 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94689811 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02015.hp2 HG02056.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0010 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0278a0001c0001t0001g0284a0001c0001t0001g0307others(6): Show | 9 | 374 | 0.0241 | 17 | c.182 others(36): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ESRRB_chr14_76371137_76506837 | 76413847 | T | TCACCCCT others(10): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0033 | 1 | 318 | 0.0031 | 17 | c.51- others(34): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ESRRB_chr14_76371137_76506837 | 76452626 | A | AAAAAACA others(10): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02083.hp1 HG03669.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0132a0001c0001t0001g0238a0001c0001t0002g0007others(3): Show | 6 | 318 | 0.0189 | 17 | c.461 others(34): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ESRRB_chr14_76371137_76506837 | 76460709 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01099.hp2 HG01106.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(3): Show | a0001c0001t0001g0165a0001c0001t0001g0283a0001c0001t0006g0137others(5): Show | 9 | 318 | 0.0283 | 17 | c.461 others(34): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ESRRB_chr14_76371137_76506837 | 76463445 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02486.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0003 | a0001c0001t0007a0001c0001t0032a0001c0008t0005others(1): Show | a0001c0001t0007g0125a0001c0001t0032g0273a0001c0008t0005g0171others(1): Show | 4 | 318 | 0.0126 | 17 | c.577 others(32): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ESRRB_chr14_76371137_76506837 | 76485660 | A | AGAGAGAG others(10): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0269 | 1 | 318 | 0.0031 | 17 | c.850 others(34): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 5/6 | chr14 | TogoVar | ||||||
ESRRB_chr14_76371137_76506837 | 76489480 | C | CACACACA others(10): Show |
intron_variant | MODIFIER | HG02647.hp1 NA19057.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0001 | a0001c0001t0005g0216a0001c0002t0001g0239 | 2 | 318 | 0.0063 | 17 | c.851 others(34): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 5/6 | chr14 | TogoVar | ||||||
ESS2_chr22_19125279_19149651 | 19136031 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02896.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0077a0001c0002t0002g0080a0001c0002t0002g0086 | 3 | 432 | 0.0069 | 17 | c.103 others(34): Show |
ESS2 | ENSG00000100056.12 | transcript | ENST00000252137.11 | protein_coding | 8/9 | chr22 | TogoVar | ||||||
ETDA_chrX_135247061_135258583 | 135258179 | A | ATACGTGC others(10): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 335 | 0.0030 | 17 | c.*47 others(28): Show |
ETDA | ENSG00000238210.4 | transcript | ENST00000427686.3 | protein_coding | 4597 | chrX | TogoVar | ||||||
ETDA_chrX_135247061_135258583 | 135258179 | A | ATATGTGC others(10): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00639.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003 | 29 | 335 | 0.0866 | 17 | c.*47 others(28): Show |
ETDA | ENSG00000238210.4 | transcript | ENST00000427686.3 | protein_coding | 4597 | chrX | TogoVar | ||||||
ETF1_chr5_138501095_138548236 | 138501149 | A | AGGAGGTG others(10): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 334 | 0.0030 | 17 | c.*71 others(28): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 4945 | chr5 | TogoVar | ||||||
ETF1_chr5_138501095_138548236 | 138501222 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268a0001c0001t0001g0269 | 2 | 334 | 0.0060 | 17 | c.*70 others(28): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 4872 | chr5 | TogoVar | ||||||
ETF1_chr5_138501095_138548236 | 138512225 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 334 | 0.0030 | 17 | c.732 others(32): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 6/10 | chr5 | TogoVar | ||||||
ETF1_chr5_138501095_138548236 | 138512225 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | HG00323.hp2 HG03710.hp2 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0134a0001c0001t0001g0142 | 3 | 334 | 0.0090 | 17 | c.732 others(32): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 6/10 | chr5 | TogoVar | ||||||
ETF1_chr5_138501095_138548236 | 138512258 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0297 | 1 | 334 | 0.0030 | 17 | c.732 others(32): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 6/10 | chr5 | TogoVar | ||||||
ETF1_chr5_138501095_138548236 | 138512259 | T | TTATTTTA others(10): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 334 | 0.0030 | 17 | c.732 others(32): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 6/10 | chr5 | TogoVar | ||||||
ETFA_chr15_76210353_76316469 | 76227515 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0264 | 1 | 336 | 0.0030 | 17 | c.883 others(34): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 10/11 | chr15 | TogoVar | ||||||
ETFA_chr15_76210353_76316469 | 76295936 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03239.hp2 NA18957.hp1 NA21309.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0002c0002t0004 | a0001c0001t0002g0143a0001c0001t0003g0276a0002c0002t0004g0262 | 3 | 336 | 0.0089 | 17 | c.40- others(30): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 1/11 | chr15 | TogoVar | ||||||
ETFA_chr15_76210353_76316469 | 76310068 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0283 | 1 | 336 | 0.0030 | 17 | c.39+ others(32): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 1/11 | chr15 | TogoVar | ||||||
ETFA_chr15_76210353_76316469 | 76310369 | G | GAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0332 | 1 | 336 | 0.0030 | 17 | c.39+ others(30): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 1/11 | chr15 | TogoVar | ||||||
ETFA_chr15_76210353_76316469 | 76311932 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG00738.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(34): Show | 37 | 336 | 0.1101 | 17 | c.-54 others(26): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 464 | chr15 | TogoVar | ||||||
ETFDH_chr4_158667296_158714623 | 158670023 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 | 1 | 298 | 0.0034 | 17 | c.-24 others(28): Show |
ETFDH | ENSG00000171503.13 | transcript | ENST00000511912.6 | protein_coding | 2272 | chr4 | TogoVar | ||||||
ETFDH_chr4_158667296_158714623 | 158709019 | T | TGTGTGTG others(10): Show |
3_prime_UTR_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0002 | a0002c0002t0035 | a0002c0002t0035g0082 | 1 | 298 | 0.0034 | 17 | c.*49 others(26): Show |
ETFDH | ENSG00000171503.13 | transcript | ENST00000511912.6 | protein_coding | 13/13 | 493 | chr4 | TogoVar | |||||
ETFDH_chr4_158667296_158714623 | 158713777 | G | GAACATCT others(10): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp2 others(98): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(30): Show | a0001c0001t0003g0018a0001c0001t0003g0021a0001c0001t0003g0072others(91): Show | 101 | 298 | 0.3389 | 17 | c.*52 others(28): Show |
ETFDH | ENSG00000171503.13 | transcript | ENST00000511912.6 | protein_coding | 4155 | chr4 | TogoVar | ||||||
ETFRF1_chr12_25190237_25210143 | 25202063 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02976.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0083a0001c0001t0002g0139 | 2 | 390 | 0.0051 | 17 | c.-37 others(34): Show |
ETFRF1 | ENSG00000205707.11 | transcript | ENST00000381356.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ETNK2_chr1_204126062_204157044 | 204144345 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00558.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0165others(8): Show | 20 | 422 | 0.0474 | 17 | c.641 others(34): Show |
ETNK2 | ENSG00000143845.15 | transcript | ENST00000367202.9 | protein_coding | 3/7 | chr1 | TogoVar | ||||||
ETNPPL_chr4_108737053_108768053 | 108753749 | T | TAAAGAAA others(10): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0003 | a0003c0005 | a0003c0005t0008 | a0003c0005t0008g0115 | 1 | 378 | 0.0027 | 17 | c.502 others(32): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 5/12 | chr4 | TogoVar | ||||||
ETNPPL_chr4_108737053_108768053 | 108753800 | G | GAAAGAAA others(10): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 378 | 0.0027 | 17 | c.502 others(32): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 5/12 | chr4 | TogoVar | ||||||
ETNPPL_chr4_108737053_108768053 | 108753807 | A | AGAAAGAA others(10): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 378 | 0.0027 | 17 | c.502 others(32): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 5/12 | chr4 | TogoVar | ||||||
ETS1_chr11_128453765_128592558 | 128569318 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02486.hp2 HG02572.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0001t0015a0001c0002t0001others(2): Show | a0001c0001t0005g0153a0001c0001t0005g0210a0001c0001t0015g0045others(5): Show | 8 | 286 | 0.0280 | 17 | c.69+ others(32): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 2/9 | chr11 | TogoVar | ||||||
ETV1_chr7_13886229_13994666 | 13975442 | A | AGGCTGAG others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02080.hp1 HG02738.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0019others(5): Show | a0001c0001t0001g0157a0001c0001t0004g0183a0001c0001t0019g0152others(14): Show | 17 | 320 | 0.0531 | 17 | c.235 others(34): Show |
ETV1 | ENSG00000006468.15 | transcript | ENST00000430479.6 | protein_coding | 6/13 | chr7 | TogoVar | ||||||
ETV2_chr19_35636745_35649871 | 35638908 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00673.hp2 HG00733.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0002g0002 | 17 | 438 | 0.0388 | 17 | c.-32 others(28): Show |
ETV2 | ENSG00000105672.15 | transcript | ENST00000402764.6 | protein_coding | 2836 | chr19 | TogoVar | ||||||
ETV2_chr19_35636745_35649871 | 35641171 | T | TGGGATTA others(10): Show |
upstream_gene_variant | MODIFIER | NA19059.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 438 | 0.0023 | 17 | c.-10 others(28): Show |
ETV2 | ENSG00000105672.15 | transcript | ENST00000402764.6 | protein_coding | 573 | chr19 | TogoVar | ||||||
ETV6_chr12_11644674_11900377 | 11897013 | C | CTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 HG01256.hp2 HG03927.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0008a0001c0001t0021others(1): Show | a0001c0001t0003g0041a0001c0001t0008g0127a0001c0001t0021g0033others(1): Show | 4 | 262 | 0.0153 | 17 | c.*59 others(28): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 1637 | chr12 | TogoVar | ||||||
EVA1A_chr2_75487318_75565939 | 75555337 | C | CTCTCTCT others(10): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0057 | 1 | 384 | 0.0026 | 17 | c.-19 others(36): Show |
EVA1A | ENSG00000115363.14 | transcript | ENST00000393913.8 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
EVA1C_chr21_32407706_32520387 | 32430972 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01975.hp2 HG01993.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(5): Show | a0001c0001t0001g0041a0001c0001t0001g0246a0001c0001t0001g0252others(16): Show | 19 | 346 | 0.0549 | 17 | c.160 others(36): Show |
EVA1C | ENSG00000166979.13 | transcript | ENST00000300255.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
EVI5_chr1_92503696_92790108 | 92550779 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 168 | 0.0060 | 17 | c.216 others(38): Show |
EVI5 | ENSG00000067208.17 | transcript | ENST00000684568.2 | protein_coding | 19/19 | chr1 | TogoVar | ||||||
EVI5_chr1_92503696_92790108 | 92550781 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 168 | 0.0060 | 17 | c.216 others(38): Show |
EVI5 | ENSG00000067208.17 | transcript | ENST00000684568.2 | protein_coding | 19/19 | chr1 | TogoVar | ||||||
EVI5_chr1_92503696_92790108 | 92565948 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0053a0001c0001t0023g0054 | 2 | 168 | 0.0119 | 17 | c.207 others(36): Show |
EVI5 | ENSG00000067208.17 | transcript | ENST00000684568.2 | protein_coding | 18/19 | chr1 | TogoVar | ||||||
EVI5_chr1_92503696_92790108 | 92669547 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02895.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0024a0001c0001t0041others(1): Show | a0001c0001t0012g0130a0001c0001t0012g0133a0001c0001t0024g0119others(2): Show | 5 | 168 | 0.0298 | 17 | c.115 others(36): Show |
EVI5 | ENSG00000067208.17 | transcript | ENST00000684568.2 | protein_coding | 10/19 | chr1 | TogoVar | ||||||
EVPLL_chr17_18372778_18394647 | 18373800 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG01256.hp1 HG01981.hp2 others(4): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0001a0002c0001t0001g0023a0002c0001t0001g0083 | 7 | 408 | 0.0172 | 17 | c.-42 others(28): Show |
EVPLL | ENSG00000214860.5 | transcript | ENST00000399134.5 | protein_coding | 3977 | chr17 | TogoVar | ||||||
EVX1_chr7_27237802_27252830 | 27252631 | T | TGTGTGTG others(10): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0005g0002 | 2 | 398 | 0.0050 | 17 | c.*62 others(28): Show |
EVX1 | ENSG00000106038.13 | transcript | ENST00000496902.7 | protein_coding | 4802 | chr7 | TogoVar | ||||||
EVX2_chr2_176072472_176088962 | 176084416 | G | GTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 430 | 0.0023 | 17 | c.-64 others(26): Show |
EVX2 | ENSG00000174279.5 | transcript | ENST00000308618.5 | protein_coding | 455 | chr2 | TogoVar | ||||||
EVX2_chr2_176072472_176088962 | 176084421 | G | GTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0061a0001c0001t0004g0010 | 2 | 430 | 0.0047 | 17 | c.-64 others(26): Show |
EVX2 | ENSG00000174279.5 | transcript | ENST00000308618.5 | protein_coding | 460 | chr2 | TogoVar | ||||||
EXD1_chr15_41177728_41235757 | 41186470 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0285 | 1 | 318 | 0.0031 | 17 | c.105 others(36): Show |
EXD1 | ENSG00000178997.12 | transcript | ENST00000458580.7 | protein_coding | 11/11 | chr15 | TogoVar | ||||||
EXD2_chr14_69186498_69249018 | 69191047 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 HG03225.hp1 |
a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0170a0001c0004t0007g0172 | 2 | 234 | 0.0086 | 17 | c.-67 others(26): Show |
EXD2 | ENSG00000081177.19 | transcript | ENST00000685843.1 | protein_coding | 450 | chr14 | TogoVar | ||||||
EXD2_chr14_69186498_69249018 | 69201672 | G | GTTTTTTG others(10): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01496.hp1 HG02451.hp2 |
a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0168a0001c0004t0007g0169a0001c0004t0007g0170 | 3 | 234 | 0.0128 | 17 | c.-13 others(36): Show |
EXD2 | ENSG00000081177.19 | transcript | ENST00000685843.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EXD2_chr14_69186498_69249018 | 69206455 | C | CCTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03195.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0001 | a0001c0001t0005g0165a0002c0002t0001g0162 | 2 | 234 | 0.0086 | 17 | c.-48 others(34): Show |
EXD2 | ENSG00000081177.19 | transcript | ENST00000685843.1 | protein_coding | 2/9 | chr14 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137346238 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0014 | 1 | 82 | 0.0122 | 17 | c.199 others(36): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar |