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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP5S1_chr20_3815547_3833838 | 3831665 | G | GTGTGTGT others(5): Show |
downstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 412 | 0.0024 | 12 | c.*73 others(23): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 2828 | chr20 | TogoVar | ||||||
AP5S1_chr20_3815547_3833838 | 3831679 | A | ATATATAT others(5): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG01099.hp2 HG01168.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0001a0001c0001t0004g0003a0001c0001t0005g0003others(3): Show | 21 | 412 | 0.0510 | 12 | c.*73 others(23): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 2842 | chr20 | TogoVar | ||||||
AP5S1_chr20_3815547_3833838 | 3831679 | A | ATATATAT others(5): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008 | a0001c0001t0005g0003a0001c0001t0008g0003 | 3 | 412 | 0.0073 | 12 | c.*73 others(23): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 2842 | chr20 | TogoVar | ||||||
AP5S1_chr20_3815547_3833838 | 3832236 | C | CAAAAAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00735.hp2 others(19): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0002g0002a0001c0001t0002g0014a0001c0001t0004g0002others(8): Show | 22 | 412 | 0.0534 | 12 | c.*79 others(23): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 3399 | chr20 | TogoVar | ||||||
AP5S1_chr20_3815547_3833838 | 3832256 | A | AAAAAAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0002 | 1 | 412 | 0.0024 | 12 | c.*79 others(23): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 3419 | chr20 | TogoVar | ||||||
AP5Z1_chr7_4770623_4799397 | 4777353 | C | CTTTATTT others(5): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02809.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0003a0001c0006t0003 | a0001c0002t0003g0078a0001c0006t0003g0079 | 2 | 340 | 0.0059 | 12 | c.41+ others(27): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98644930 | C | CCCACAGC others(5): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(83): Show |
a0001a0005a0007 | a0001c0001a0001c0013a0005c0008others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(9): Show | a0001c0001t0003g0125a0001c0001t0003g0130a0001c0001t0003g0131others(83): Show | 86 | 366 | 0.2350 | 12 | c.-94 others(21): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 359 | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98653685 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0096 | 1 | 366 | 0.0027 | 12 | c.526 others(29): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98653689 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01496.hp2 HG02145.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0072a0001c0001t0001g0267others(1): Show | 4 | 366 | 0.0109 | 12 | c.526 others(29): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98653691 | A | AAAAAATA others(5): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 366 | 0.0027 | 12 | c.526 others(29): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98653691 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 366 | 0.0027 | 12 | c.526 others(29): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98665255 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0217 | 1 | 366 | 0.0027 | 12 | c.956 others(27): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98665278 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0355 | 1 | 366 | 0.0027 | 12 | c.956 others(27): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98707692 | C | CTATATAT others(5): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0320 | 1 | 366 | 0.0027 | 12 | c.272 others(29): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98715235 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0129 | 1 | 366 | 0.0027 | 12 | c.295 others(29): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98715281 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG00408.hp1 HG03239.hp2 HG04199.hp2 others(6): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0002a0001c0001t0006a0001c0001t0021others(1): Show | a0001c0001t0002g0314a0001c0001t0002g0326a0001c0001t0002g0328others(6): Show | 9 | 366 | 0.0246 | 12 | c.295 others(29): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 21/26 | chr12 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69436352 | C | CTATAAAT others(5): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02970.hp1 HG03098.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0028a0001c0006t0029a0002c0002t0017others(1): Show | a0001c0001t0028g0117a0001c0006t0029g0083a0002c0002t0017g0205others(2): Show | 5 | 210 | 0.0238 | 12 | c.230 others(31): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 11/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69523477 | G | GTATATAT others(5): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0142 | 1 | 210 | 0.0048 | 12 | c.-69 others(29): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69523489 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 210 | 0.0048 | 12 | c.-69 others(29): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69523511 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0208 | 1 | 210 | 0.0048 | 12 | c.-69 others(29): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69540122 | G | GCAACAAC others(5): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG01074.hp1 others(28): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0001g0050a0001c0001t0001g0058a0001c0001t0001g0064others(28): Show | 31 | 210 | 0.1476 | 12 | c.-69 others(31): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69600806 | T | TAATAAAT others(5): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0049 | 1 | 210 | 0.0048 | 12 | c.-70 others(31): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69636890 | A | AGAAGGAA others(5): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01515.hp1 HG02109.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0002g0039a0001c0001t0002g0080a0001c0001t0002g0105others(5): Show | 8 | 210 | 0.0381 | 12 | c.-70 others(31): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69636918 | G | GGAAAGAA others(5): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0017 | 1 | 210 | 0.0048 | 12 | c.-70 others(31): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69636922 | G | GGAAAGAA others(5): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02723.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0002c0002t0019 | a0001c0001t0012g0127a0002c0002t0019g0033 | 2 | 210 | 0.0095 | 12 | c.-70 others(31): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69636922 | G | GGAAGGAA others(5): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03130.hp1 NA18966.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0058a0001c0001t0001g0188a0001c0001t0002g0089others(2): Show | 5 | 210 | 0.0238 | 12 | c.-70 others(31): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69636922 | G | GGAAGGAA others(5): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0076a0001c0001t0006g0204 | 2 | 210 | 0.0095 | 12 | c.-70 others(31): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69658300 | C | CTCTTTCT others(5): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0190 | 1 | 210 | 0.0048 | 12 | c.-70 others(31): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28897182 | G | GACACACA others(5): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0163 | 1 | 204 | 0.0049 | 12 | c.-20 others(33): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 28901908 | A | ATGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02129.hp1 HG02818.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0030a0001c0001t0002g0149a0001c0001t0003g0168others(9): Show | 12 | 204 | 0.0588 | 12 | c.-20 others(33): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 28969126 | C | CTCTTTCT others(5): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 204 | 0.0049 | 12 | c.-94 others(31): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 28969128 | T | TTTTCTTT others(5): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03491.hp2 HG03710.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0039a0001c0001t0003g0131a0001c0001t0004g0079others(2): Show | 5 | 204 | 0.0245 | 12 | c.-94 others(31): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 29045069 | T | TTCTCTCT others(5): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01981.hp1 HG02293.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0155a0001c0001t0003g0164a0001c0001t0004g0015others(8): Show | 11 | 204 | 0.0539 | 12 | c.-40 others(29): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 29045079 | C | CTCTCTCT others(5): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0003 | 1 | 204 | 0.0049 | 12 | c.-40 others(29): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 29045103 | C | CTCTCTCT others(5): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01981.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0063a0001c0001t0001g0068a0001c0001t0002g0116others(7): Show | 10 | 204 | 0.0490 | 12 | c.-40 others(29): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29052454 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG01358.hp2 others(34): Show |
a0001a0002a0003 | a0001c0001a0001c0009a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0019a0001c0001t0001g0030a0001c0001t0002g0144others(34): Show | 37 | 204 | 0.1814 | 12 | c.-40 others(29): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 29052454 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0086 | 1 | 204 | 0.0049 | 12 | c.-40 others(29): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 29052454 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03540.hp1 |
a0002 | a0002c0004a0002c0016 | a0002c0004t0022a0002c0016t0036 | a0002c0004t0022g0080a0002c0016t0036g0001 | 2 | 204 | 0.0098 | 12 | c.-40 others(29): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 29055668 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02602.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0029a0001c0001t0031 | a0001c0001t0003g0159a0001c0001t0029g0046a0001c0001t0031g0055 | 3 | 204 | 0.0147 | 12 | c.951 others(27): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26443532 | C | CTTTATTT others(5): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01884.hp1 HG01891.hp2 others(10): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0006a0004c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0002c0006t0002others(2): Show | a0001c0001t0002g0310a0001c0001t0002g0313a0001c0001t0002g0314others(10): Show | 13 | 358 | 0.0363 | 12 | c.-1+ others(27): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26446895 | G | GAGATAGA others(5): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01123.hp2 HG01168.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189a0001c0001t0001g0190a0001c0001t0001g0191others(3): Show | 6 | 358 | 0.0168 | 12 | c.-1+ others(27): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26472569 | T | TTTCATTC others(5): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG01109.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0001g0029a0001c0001t0001g0070others(12): Show | 15 | 358 | 0.0419 | 12 | c.1-1 others(27): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26510734 | T | TCACACAC others(5): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 358 | 0.0028 | 12 | c.532 others(27): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26510734 | T | TCTCTCTC others(5): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00735.hp1 HG01891.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0010others(21): Show | 24 | 358 | 0.0670 | 12 | c.532 others(29): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26516543 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 358 | 0.0028 | 12 | c.813 others(29): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26524974 | T | TTTTTTTT others(5): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 358 | 0.0028 | 12 | c.814 others(29): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 8/14 | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26567308 | G | GCCCGCGC others(5): Show |
disruptive_inframe_insertion | MODERATE | HG02809.hp1 | a0010 | a0010c0010 | a0010c0010t0002 | a0010c0010t0002g0348 | 1 | 358 | 0.0028 | 12 | c.182 others(21): Show |
p.Ala others(13): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 15/15 | 2155/2633 | 1838/2001 | 613/666 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
APBB1_chr11_6390125_6424094 | 6390700 | C | CCTGGCGC others(5): Show |
downstream_gene_variant | MODIFIER | NA18979.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074a0001c0001t0001g0237 | 2 | 416 | 0.0048 | 12 | c.*48 others(23): Show |
APBB1 | ENSG00000166313.20 | transcript | ENST00000609360.6 | protein_coding | 4424 | chr11 | TogoVar | ||||||
APBB1_chr11_6390125_6424094 | 6421657 | C | CAAATAAA others(5): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 HG02976.hp1 NA19030.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268a0001c0001t0001g0269a0001c0001t0001g0288others(1): Show | 4 | 416 | 0.0096 | 12 | c.-26 others(23): Show |
APBB1 | ENSG00000166313.20 | transcript | ENST00000609360.6 | protein_coding | 2564 | chr11 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40811520 | C | CCAGCCTA others(5): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(154): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0004others(6): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(79): Show | a0001c0002t0001g0039a0001c0002t0001g0060a0001c0002t0001g0070others(154): Show | 157 | 192 | 0.8177 | 12 | c.*45 others(23): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 18/18 | 4571 | chr4 | TogoVar |