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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP4S1_chr14_31020649_31101450 | 31028596 | T | TACACAC | intron_variant | MODIFIER | HG00323.hp2 HG01081.hp2 HG01168.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0280 a0001c0001t0001g0281 others(14): Show |
17 | 206 | 0.0825 | 6 | c.-72 others(23): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31049477 | A | ATATATG | intron_variant | MODIFIER | HG02257.hp1 HG02630.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0042 | a0001c0001t0001g0011 a0001c0001t0006g0016 a0001c0001t0006g0018 others(3): Show |
6 | 343 | 0.0175 | 6 | c.-71 others(25): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
AP4S1_chr14_31020649_31101450 | 31058527 | A | ATGTGTG | intron_variant | MODIFIER | HG00099.hp2 HG02486.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0019 | a0001c0001t0001g0140 a0001c0001t0003g0024 a0001c0001t0019g0007 others(1): Show |
4 | 91 | 0.0440 | 6 | c.-71 others(23): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31083496 | C | CTTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00741.hp1 HG01074.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 others(13): Show |
17 | 127 | 0.1339 | 6 | c.306 others(23): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP5S1_chr20_3815547_3833838 | 3824931 | C | CAAAAAA | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(70): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(8): Show | a0001c0001t0004g0002 a0001c0001t0004g0003 a0001c0001t0004g0012 others(12): Show |
73 | 278 | 0.2626 | 6 | c.*64 others(15): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 3/3 | 651 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
AP5S1_chr20_3815547_3833838 | 3832236 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02818.hp1 HG03225.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0018a0001c0001t0028others(2): Show | a0001c0001t0009g0003 a0001c0001t0018g0008 a0001c0001t0028g0008 others(2): Show |
6 | 202 | 0.0297 | 6 | c.*79 others(17): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 3399 | chr20 | TogoVar | |||||||
AP5Z1_chr7_4770623_4799397 | 4770864 | G | GGTGTGT | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01243.hp1 others(7): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0002a0001c0002t0003a0001c0002t0031others(4): Show | a0001c0001t0002g0053 a0001c0002t0003g0068 a0001c0002t0031g0058 others(5): Show |
10 | 104 | 0.0962 | 6 | c.-48 others(17): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 4758 | chr7 | TogoVar | |||||||
APAF1_chr12_98640290_98740433 | 98665255 | C | CATATAT | intron_variant | MODIFIER | HG00140.hp2 HG01099.hp1 HG01109.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0020 | a0001c0001t0019g0205 a0001c0001t0019g0206 a0001c0001t0020g0338 others(1): Show |
4 | 188 | 0.0213 | 6 | c.956 others(21): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98665276 | A | ATTTTTT | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 NA18940.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0014 | a0001c0001t0010g0281 a0001c0001t0010g0283 a0001c0001t0010g0285 others(4): Show |
7 | 347 | 0.0202 | 6 | c.956 others(21): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98689474 | C | CTGTGTG | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01884.hp2 others(10): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0006a0001c0001t0008a0001c0001t0013others(2): Show | a0001c0001t0006g0154 a0001c0001t0008g0003 a0001c0001t0008g0295 others(9): Show |
13 | 290 | 0.0448 | 6 | c.230 others(25): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98689495 | T | TGTGTGA | intron_variant | MODIFIER | HG02132.hp2 HG02451.hp1 HG02717.hp2 others(13): Show |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0003a0001c0001t0010a0001c0001t0014others(3): Show | a0001c0001t0003g0131 a0001c0001t0003g0136 a0001c0001t0003g0160 others(13): Show |
16 | 289 | 0.0554 | 6 | c.230 others(25): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98707692 | C | CTATATA | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG01884.hp2 others(2): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0013a0001c0001t0036a0005c0007t0029 | a0001c0001t0013g0291 a0001c0001t0013g0292 a0001c0001t0013g0293 others(2): Show |
5 | 155 | 0.0323 | 6 | c.272 others(23): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98715235 | C | CATATAT | intron_variant | MODIFIER | HG02809.hp1 HG02976.hp1 HG03017.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0009 a0001c0001t0001g0225 a0001c0001t0001g0264 others(3): Show |
7 | 79 | 0.0886 | 6 | c.295 others(23): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69522068 | T | TACACAC | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00609.hp2 others(40): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0058 others(40): Show |
43 | 111 | 0.3874 | 6 | c.-69 others(23): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69523477 | G | GTATATA | intron_variant | MODIFIER | HG01175.hp2 HG02155.hp1 HG02630.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0035a0003c0003t0002 | a0001c0001t0002g0096 a0001c0001t0035g0209 a0003c0003t0002g0174 |
3 | 153 | 0.0196 | 6 | c.-69 others(23): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69523495 | A | ATATATG | intron_variant | MODIFIER | HG02683.hp1 NA18964.hp2 NA19004.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0164 others(1): Show |
4 | 202 | 0.0198 | 6 | c.-69 others(23): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69540122 | G | GCAACAA | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02257.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0001a0002c0002t0003others(6): Show | a0001c0001t0005g0150 a0002c0002t0001g0011 a0002c0002t0003g0014 others(11): Show |
14 | 92 | 0.1522 | 6 | c.-69 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69558561 | C | CATATAT | intron_variant | MODIFIER | HG02809.hp1 HG02976.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0069 a0001c0001t0008g0070 a0001c0001t0008g0071 others(2): Show |
5 | 130 | 0.0385 | 6 | c.-69 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69636828 | A | AGAGAGG | intron_variant | MODIFIER | NA18944.hp2 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200 a0001c0001t0002g0201 |
2 | 156 | 0.0128 | 6 | c.-70 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69636828 | A | AGGGAGG | intron_variant | MODIFIER | HG01074.hp2 HG02074.hp1 HG03704.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0180 a0001c0001t0002g0045 a0001c0001t0002g0074 others(2): Show |
5 | 159 | 0.0314 | 6 | c.-70 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69636855 | G | GAAAGAA | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp2 HG02698.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0104 a0001c0001t0001g0124 a0001c0001t0001g0136 others(8): Show |
11 | 198 | 0.0556 | 6 | c.-70 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69636870 | A | AAGGAAG | intron_variant | MODIFIER | HG02055.hp2 HG02976.hp2 NA18961.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0010a0002c0002t0007 | a0001c0001t0001g0124 a0001c0001t0001g0136 a0001c0001t0010g0125 others(2): Show |
5 | 140 | 0.0357 | 6 | c.-70 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69658264 | C | CTTTCTT | intron_variant | MODIFIER | HG01346.hp2 HG01358.hp2 HG01978.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0003 | a0001c0001t0001g0136 a0001c0001t0001g0158 a0001c0001t0005g0138 others(3): Show |
6 | 192 | 0.0313 | 6 | c.-70 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69658272 | C | CTTTCTT | intron_variant | MODIFIER | HG01123.hp2 HG01346.hp1 HG02004.hp1 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0007 | a0001c0001t0001a0002c0002t0003a0004c0007t0001 | a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0120 others(6): Show |
9 | 185 | 0.0486 | 6 | c.-70 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69658276 | C | CTTTCTT | intron_variant | MODIFIER | HG01433.hp1 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0173 a0001c0001t0006g0132 |
2 | 201 | 0.0100 | 6 | c.-70 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69658282 | T | TTCTTTC | intron_variant | MODIFIER | HG01361.hp2 HG02300.hp2 HG02486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0021 a0001c0001t0002g0057 a0001c0001t0002g0076 others(4): Show |
7 | 150 | 0.0467 | 6 | c.-70 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69658304 | C | CTCTCTT | intron_variant | MODIFIER | HG01169.hp2 HG02040.hp1 HG02145.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0058 a0001c0001t0001g0154 a0001c0001t0001g0159 others(6): Show |
9 | 114 | 0.0789 | 6 | c.-70 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69658304 | C | CTTTCTT | intron_variant | MODIFIER | HG00597.hp1 HG01884.hp1 |
a0002 | a0002c0002 | a0002c0002t0016a0002c0002t0019 | a0002c0002t0016g0168 a0002c0002t0019g0049 |
2 | 107 | 0.0187 | 6 | c.-70 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69672285 | T | TGCCGCC | 5_prime_UTR_variant | MODIFIER | HG01175.hp2 HG02615.hp2 HG03098.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0034a0001c0001t0035a0001c0001t0036others(1): Show | a0001c0001t0034g0207 a0001c0001t0035g0209 a0001c0001t0036g0208 others(2): Show |
5 | 208 | 0.0240 | 6 | c.-20 others(15): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/13 | 155076 | chr9 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28897182 | G | GACACAC | intron_variant | MODIFIER | HG00738.hp2 HG02109.hp2 HG02615.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0003a0002c0002t0006a0002c0002t0007others(5): Show | a0001c0001t0003g0131 a0002c0002t0006g0003 a0002c0002t0006g0124 others(7): Show |
10 | 78 | 0.1282 | 6 | c.-20 others(27): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28987725 | G | GATATAT | intron_variant | MODIFIER | HG02257.hp2 HG02922.hp1 NA18522.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0005others(4): Show | a0001c0001t0001g0063 a0001c0001t0006g0160 a0002c0002t0005g0012 others(4): Show |
7 | 107 | 0.0654 | 6 | c.-94 others(23): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29030729 | A | ATGTGTG | intron_variant | MODIFIER | HG01981.hp2 HG02074.hp2 HG02165.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0003g0186 a0001c0001t0004g0017 a0001c0001t0007g0162 others(3): Show |
6 | 121 | 0.0496 | 6 | c.-40 others(25): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29039098 | G | GGTGTGT | intron_variant | MODIFIER | HG01255.hp1 HG02109.hp2 HG02257.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0002a0002c0002t0002a0002c0002t0006others(3): Show | a0001c0001t0002g0116 a0002c0002t0002g0180 a0002c0002t0006g0161 others(3): Show |
6 | 21 | 0.2857 | 6 | c.-40 others(25): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29045069 | T | TTCTCTC | intron_variant | MODIFIER | HG02074.hp1 NA18950.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0109 a0001c0001t0004g0058 |
2 | 137 | 0.0146 | 6 | c.-40 others(23): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29055668 | A | AGTGTGT | intron_variant | MODIFIER | HG02129.hp1 HG02145.hp1 HG02257.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0030 a0001c0001t0002g0116 a0001c0001t0002g0117 |
3 | 76 | 0.0395 | 6 | c.951 others(21): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29065004 | A | AGTGTGT | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03195.hp2 others(1): Show |
a0002 | a0002c0006 | a0002c0006t0016a0002c0006t0017 | a0002c0006t0016g0099 a0002c0006t0016g0100 a0002c0006t0017g0114 others(1): Show |
4 | 193 | 0.0207 | 6 | c.952 others(23): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA3_chr19_3745772_3766692 | 3755559 | C | CGGGGGG | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp2 others(22): Show |
a0001a0013 | a0001c0002a0001c0004a0001c0005others(1): Show | a0001c0002t0002a0001c0004t0001a0001c0004t0002others(4): Show | a0001c0002t0002g0017 a0001c0002t0002g0063 a0001c0002t0002g0072 others(14): Show |
25 | 214 | 0.1168 | 6 | c.617 others(23): Show |
APBA3 | ENSG00000011132.12 | transcript | ENST00000316757.4 | protein_coding | 3/10 | chr19 | TogoVar | |||||||
APBB1IP_chr10_26433341_26572803 | 26446889 | G | GAGAGAT | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG01167.hp2 others(40): Show |
a0001a0006a0011 | a0001c0001a0006c0008a0011c0012 | a0001c0001t0001a0006c0008t0001a0011c0012t0001 | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 others(40): Show |
43 | 356 | 0.1208 | 6 | c.-1+ others(21): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26456737 | T | TAAAAAA | intron_variant | MODIFIER | HG01123.hp1 HG01884.hp1 HG02148.hp1 others(7): Show |
a0001a0002a0011 | a0001c0001a0002c0006a0011c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0188 a0001c0001t0001g0198 a0001c0001t0001g0235 others(7): Show |
10 | 24 | 0.4167 | 6 | c.-1+ others(23): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26481826 | C | CGTGTGT | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp2 NA19003.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0111 a0001c0001t0001g0170 a0001c0001t0001g0171 others(1): Show |
4 | 108 | 0.0370 | 6 | c.1-1 others(21): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26491715 | T | TGGGTAA | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00609.hp1 others(66): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0019 others(65): Show |
69 | 356 | 0.1938 | 6 | c.1-6 others(17): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26510734 | T | TCACACA | intron_variant | MODIFIER | HG01069.hp2 HG02622.hp2 HG02723.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0073 a0001c0001t0001g0220 a0001c0001t0002g0280 others(3): Show |
6 | 185 | 0.0324 | 6 | c.532 others(21): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26558140 | A | AACACAC | intron_variant | MODIFIER | HG01261.hp1 HG01346.hp1 HG02148.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0078 others(11): Show |
14 | 71 | 0.1972 | 6 | c.115 others(25): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26561064 | C | CTTTCTT | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG01167.hp2 others(14): Show |
a0001a0006a0010 | a0001c0001a0006c0008a0010c0010 | a0001c0001t0001a0001c0001t0002a0006c0008t0001others(1): Show | a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0069 others(14): Show |
17 | 119 | 0.1429 | 6 | c.136 others(23): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1_chr11_6390125_6424094 | 6390700 | C | CCTGGCG | downstream_gene_variant | MODIFIER | HG01496.hp1 HG01975.hp2 HG04115.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0208 others(2): Show |
5 | 388 | 0.0129 | 6 | c.*48 others(17): Show |
APBB1 | ENSG00000166313.20 | transcript | ENST00000609360.6 | protein_coding | 4424 | chr11 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40829803 | G | GCAGGAC | intron_variant | MODIFIER | HG02622.hp2 NA18983.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0049a0001c0004t0051 | a0001c0002t0049g0097 a0001c0004t0051g0141 |
2 | 190 | 0.0105 | 6 | c.164 others(23): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 13/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40832008 | T | TTATATA | intron_variant | MODIFIER | HG02109.hp1 HG02717.hp2 NA19043.hp1 |
a0002 | a0002c0001a0002c0005 | a0002c0001t0001a0002c0001t0014a0002c0005t0001 | a0002c0001t0001g0078 a0002c0001t0014g0063 a0002c0005t0001g0155 |
3 | 128 | 0.0234 | 6 | c.153 others(25): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40832013 | T | TACACAC | intron_variant | MODIFIER | HG00597.hp2 NA18955.hp2 NA18960.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002a0001c0003t0012 | a0001c0002t0002g0071 a0001c0003t0002g0096 a0001c0003t0012g0010 |
3 | 68 | 0.0441 | 6 | c.153 others(25): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40832013 | T | TATACAC | intron_variant | MODIFIER | HG01261.hp2 HG01975.hp1 HG02015.hp2 others(12): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0002a0001c0002t0017a0001c0002t0019others(7): Show | a0001c0002t0002g0061 a0001c0002t0002g0084 a0001c0002t0002g0085 others(12): Show |
15 | 80 | 0.1875 | 6 | c.153 others(25): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40832013 | T | TATATAC | intron_variant | MODIFIER | HG01516.hp2 HG02451.hp2 HG02630.hp2 others(5): Show |
a0001a0002 | a0001c0003a0002c0001a0002c0005 | a0001c0003t0005a0001c0003t0006a0002c0001t0003others(3): Show | a0001c0003t0005g0131 a0001c0003t0006g0134 a0002c0001t0003g0049 others(5): Show |
8 | 73 | 0.1096 | 6 | c.153 others(25): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar |