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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ESR2_chr14_64223317_64299371 | 64246734 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0218 | 1 | 368 | 0.0027 | 13 | c.122 others(32): Show |
ESR2 | ENSG00000140009.19 | transcript | ENST00000341099.6 | protein_coding | 7/8 | chr14 | TogoVar | |||||||
ESRP1_chr8_94636174_94712466 | 94636525 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0368 | 1 | 374 | 0.0027 | 13 | c.-47 others(24): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 4648 | chr8 | TogoVar | |||||||
ESRP1_chr8_94636174_94712466 | 94682932 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 374 | 0.0027 | 13 | c.182 others(32): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94682933 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02280.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0269 a0001c0003t0001g0334 |
2 | 374 | 0.0054 | 13 | c.182 others(32): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 13/15 | chr8 | TogoVar | |||||||
ESRP1_chr8_94636174_94712466 | 94689811 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02738.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0003t0001a0001c0005t0001 | a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0003t0001g0333 others(2): Show |
5 | 374 | 0.0134 | 13 | c.182 others(32): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ESRRA_chr11_64300524_64321743 | 64311982 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(73): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0032 others(61): Show |
76 | 388 | 0.1959 | 13 | c.326 others(30): Show |
ESRRA | ENSG00000173153.17 | transcript | ENST00000000442.11 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ESRRB_chr14_76371137_76506837 | 76414668 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0044 | 1 | 318 | 0.0031 | 13 | c.51- others(30): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ESRRB_chr14_76371137_76506837 | 76420594 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0102 | 1 | 318 | 0.0031 | 13 | c.51- others(30): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
ESRRB_chr14_76371137_76506837 | 76460709 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0044 | 1 | 318 | 0.0031 | 13 | c.461 others(30): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ESRRB_chr14_76371137_76506837 | 76489480 | C | CACACACA others(6): Show |
intron_variant | MODIFIER | HG00642.hp2 NA19060.hp1 |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0019a0006c0010t0003 | a0001c0001t0019g0093 a0006c0010t0003g0205 |
2 | 318 | 0.0063 | 13 | c.851 others(30): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 5/6 | chr14 | TogoVar | |||||||
ESRRG_chr1_216498251_216728429 | 216625423 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02257.hp2 HG02486.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0197 others(14): Show |
17 | 286 | 0.0594 | 13 | c.589 others(32): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
ESYT2_chr7_158725997_158834509 | 158791983 | C | CAGTGTGC others(6): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00735.hp1 others(56): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0006a0003c0003others(5): Show | a0001c0001t0014a0001c0001t0017a0001c0006t0009others(14): Show | a0001c0001t0014g0186 a0001c0001t0014g0187 a0001c0001t0017g0192 others(56): Show |
59 | 370 | 0.1595 | 13 | c.584 others(30): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 4/22 | chr7 | TogoVar | |||||||
ETF1_chr5_138501095_138548236 | 138501222 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 HG02615.hp1 HG02698.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0043 a0001c0001t0001g0046 others(5): Show |
8 | 334 | 0.0240 | 13 | c.*70 others(24): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 4872 | chr5 | TogoVar | |||||||
ETF1_chr5_138501095_138548236 | 138510357 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 334 | 0.0030 | 13 | c.108 others(30): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 9/10 | chr5 | TogoVar | |||||||
ETF1_chr5_138501095_138548236 | 138512225 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 334 | 0.0030 | 13 | c.732 others(28): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
ETF1_chr5_138501095_138548236 | 138512225 | A | AAAAAAAT others(6): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 334 | 0.0030 | 13 | c.732 others(28): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
ETF1_chr5_138501095_138548236 | 138512225 | A | AAATATAT others(6): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 334 | 0.0030 | 13 | c.732 others(28): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
ETF1_chr5_138501095_138548236 | 138512259 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 334 | 0.0030 | 13 | c.732 others(28): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
ETFA_chr15_76210353_76316469 | 76227515 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(96): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(95): Show |
99 | 336 | 0.2946 | 13 | c.883 others(30): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
ETFA_chr15_76210353_76316469 | 76230218 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01496.hp2 HG01993.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008 | a0001c0001t0002g0167 a0001c0001t0002g0171 a0001c0001t0002g0183 others(6): Show |
9 | 336 | 0.0268 | 13 | c.882 others(30): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
ETFA_chr15_76210353_76316469 | 76310068 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02135.hp1 NA18989.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 others(3): Show |
6 | 336 | 0.0179 | 13 | c.39+ others(28): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 1/11 | chr15 | TogoVar | |||||||
ETFDH_chr4_158667296_158714623 | 158670028 | T | TTTTTCTT others(6): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 298 | 0.0034 | 13 | c.-24 others(24): Show |
ETFDH | ENSG00000171503.13 | transcript | ENST00000511912.6 | protein_coding | 2267 | chr4 | TogoVar | |||||||
ETFDH_chr4_158667296_158714623 | 158670028 | T | TTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(243): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(36): Show | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 others(226): Show |
246 | 298 | 0.8255 | 13 | c.-24 others(24): Show |
ETFDH | ENSG00000171503.13 | transcript | ENST00000511912.6 | protein_coding | 2267 | chr4 | TogoVar | |||||||
ETFDH_chr4_158667296_158714623 | 158680084 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00621.hp1 others(34): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0071 others(34): Show |
37 | 298 | 0.1242 | 13 | c.35- others(26): Show |
ETFDH | ENSG00000171503.13 | transcript | ENST00000511912.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ETFRF1_chr12_25190237_25210143 | 25202063 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0031 others(14): Show |
59 | 390 | 0.1513 | 13 | c.-37 others(30): Show |
ETFRF1 | ENSG00000205707.11 | transcript | ENST00000381356.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ETHE1_chr19_43501719_43532201 | 43531942 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 408 | 0.0025 | 13 | c.-47 others(24): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 4742 | chr19 | TogoVar | |||||||
ETNK2_chr1_204126062_204157044 | 204144345 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02129.hp2 HG03669.hp1 others(8): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0005 | a0001c0001t0001a0003c0003t0001a0004c0005t0001 | a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 others(8): Show |
11 | 422 | 0.0261 | 13 | c.641 others(30): Show |
ETNK2 | ENSG00000143845.15 | transcript | ENST00000367202.9 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
ETNPPL_chr4_108737053_108768053 | 108741276 | T | TGTGTGTG others(6): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0308 | 1 | 378 | 0.0027 | 13 | c.*12 others(24): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 776 | chr4 | TogoVar | |||||||
ETNPPL_chr4_108737053_108768053 | 108750614 | G | GATATATA others(6): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0034 | 1 | 378 | 0.0027 | 13 | c.701 others(28): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
ETNPPL_chr4_108737053_108768053 | 108753756 | G | GAAAGAAA others(6): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 378 | 0.0027 | 13 | c.502 others(28): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 5/12 | chr4 | TogoVar | |||||||
ETNPPL_chr4_108737053_108768053 | 108766100 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 NA19030.hp1 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0004 | a0002c0002t0001g0302 a0002c0004t0004g0034 |
2 | 378 | 0.0053 | 13 | c.-32 others(24): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 3048 | chr4 | TogoVar | |||||||
ETS1_chr11_128453765_128592558 | 128569318 | C | CTTCTTTT others(6): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0102 | 1 | 286 | 0.0035 | 13 | c.69+ others(28): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 2/9 | chr11 | TogoVar | |||||||
ETS1_chr11_128453765_128592558 | 128569318 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00639.hp1 others(63): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0049 others(63): Show |
66 | 286 | 0.2308 | 13 | c.69+ others(28): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 2/9 | chr11 | TogoVar | |||||||
ETV1_chr7_13886229_13994666 | 13896725 | A | AAGAAAGG others(6): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0261 | 1 | 320 | 0.0031 | 13 | c.121 others(30): Show |
ETV1 | ENSG00000006468.15 | transcript | ENST00000430479.6 | protein_coding | 13/13 | chr7 | TogoVar | |||||||
ETV2_chr19_35636745_35649871 | 35638908 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG01109.hp2 HG01123.hp2 others(16): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0013 others(2): Show |
19 | 438 | 0.0434 | 13 | c.-32 others(24): Show |
ETV2 | ENSG00000105672.15 | transcript | ENST00000402764.6 | protein_coding | 2836 | chr19 | TogoVar | |||||||
ETV4_chr17_43522846_43551340 | 43548656 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG01928.hp1 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 2 | 398 | 0.0050 | 13 | c.-25 others(24): Show |
ETV4 | ENSG00000175832.13 | transcript | ENST00000319349.10 | protein_coding | 2317 | chr17 | TogoVar | |||||||
ETV5_chr3_186041314_186114089 | 186066262 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0219 | 1 | 340 | 0.0029 | 13 | c.651 others(28): Show |
ETV5 | ENSG00000244405.8 | transcript | ENST00000306376.10 | protein_coding | 7/12 | chr3 | TogoVar | |||||||
ETV6_chr12_11644674_11900377 | 11650481 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0126 | a0001c0001t0126g0019 | 1 | 262 | 0.0038 | 13 | c.33+ others(26): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ETV6_chr12_11644674_11900377 | 11784862 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02145.hp2 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0071others(2): Show | a0001c0001t0004g0072 a0001c0001t0006g0036 a0001c0001t0071g0085 others(2): Show |
5 | 262 | 0.0191 | 13 | c.163 others(32): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ETV6_chr12_11644674_11900377 | 11859118 | G | GCTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0235 | 1 | 262 | 0.0038 | 13 | c.463 others(30): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 4/7 | chr12 | TogoVar | |||||||
ETV6_chr12_11644674_11900377 | 11883276 | C | CTTCTTCT others(6): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0181 | 1 | 262 | 0.0038 | 13 | c.101 others(32): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ETV6_chr12_11644674_11900377 | 11888398 | C | CTTTTCTT others(6): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01074.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0001t0017a0001c0001t0018others(17): Show | a0001c0001t0012g0105 a0001c0001t0017g0207 a0001c0001t0018g0004 others(18): Show |
21 | 262 | 0.0802 | 13 | c.125 others(32): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ETV6_chr12_11644674_11900377 | 11892210 | A | ATTTTTTT others(6): Show |
3_prime_UTR_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0005 | a0001c0005t0066 | a0001c0005t0066g0052 | 1 | 262 | 0.0038 | 13 | c.*11 others(24): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 8/8 | 1188 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EVA1A_chr2_75487318_75565939 | 75555337 | C | CTCTCTCT others(6): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 384 | 0.0026 | 13 | c.-19 others(32): Show |
EVA1A | ENSG00000115363.14 | transcript | ENST00000393913.8 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
EVA1C_chr21_32407706_32520387 | 32423070 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02622.hp1 NA18950.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0242 a0001c0002t0001g0005 a0001c0002t0001g0234 others(2): Show |
5 | 346 | 0.0145 | 13 | c.160 others(32): Show |
EVA1C | ENSG00000166979.13 | transcript | ENST00000300255.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
EVA1C_chr21_32407706_32520387 | 32430972 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 346 | 0.0029 | 13 | c.160 others(32): Show |
EVA1C | ENSG00000166979.13 | transcript | ENST00000300255.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
EVA1C_chr21_32407706_32520387 | 32439239 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02572.hp2 HG02896.hp2 others(4): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0284 a0001c0002t0001g0340 a0001c0003t0001g0261 others(4): Show |
7 | 346 | 0.0202 | 13 | c.161 others(32): Show |
EVA1C | ENSG00000166979.13 | transcript | ENST00000300255.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
EVA1C_chr21_32407706_32520387 | 32480302 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG00741.hp2 others(19): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0009t0001others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0043 a0001c0001t0001g0047 others(19): Show |
22 | 346 | 0.0636 | 13 | c.634 others(32): Show |
EVA1C | ENSG00000166979.13 | transcript | ENST00000300255.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5790180 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG01243.hp1 others(30): Show |
a0001a0002a0004others(12): Show | a0001c0004a0001c0008a0002c0003others(16): Show | a0001c0004t0007a0001c0004t0016a0001c0008t0005others(22): Show | a0001c0004t0007g0146 a0001c0004t0016g0189 a0001c0008t0005g0045 others(30): Show |
33 | 369 | 0.0894 | 13 | c.177 others(32): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EVI2A_chr17_31311410_31326622 | 31322501 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0020 | 1 | 378 | 0.0027 | 13 | c.-10 others(24): Show |
EVI2A | ENSG00000126860.12 | transcript | ENST00000462804.3 | protein_coding | 880 | chr17 | TogoVar |