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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP2S1_chr19_46833167_46855846 | 46839286 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 424 | 0.0024 | -16 | c.267 others(31): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78152019 | CCCCTCCC others(9): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0006 | 1 | 226 | 0.0044 | -16 | c.147 others(35): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78152083 | TTCCTTTC others(9): Show |
T | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0007 | 1 | 226 | 0.0044 | -16 | c.147 others(35): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78166117 | TCACACAC others(9): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG01361.hp1 HG01496.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0098others(13): Show | 16 | 226 | 0.0708 | -16 | c.116 others(33): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78174190 | TCATCAAA others(9): Show |
T | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 226 | 0.0044 | -16 | c.116 others(35): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78193732 | GTATATAT others(9): Show |
G | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0185 | 1 | 226 | 0.0044 | -16 | c.787 others(35): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | ||||||
AP3B2_chr15_82654281_82714875 | 82665376 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 | 1 | 368 | 0.0027 | -16 | c.197 others(31): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 16/26 | chr15 | TogoVar | ||||||
AP3D1_chr19_2095988_2156566 | 2102728 | AAAATAAA others(9): Show |
A | intron_variant | MODIFIER | HG03017.hp1 HG03239.hp2 HG03688.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0102a0001c0001t0001g0126a0001c0001t0001g0127others(3): Show | 6 | 406 | 0.0148 | -16 | c.355 others(33): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 31/31 | chr19 | TogoVar | ||||||
AP3D1_chr19_2095988_2156566 | 2139059 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0253 | 1 | 406 | 0.0025 | -16 | c.97- others(29): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
AP3M1_chr10_74115255_74155828 | 74149267 | GTTTTTTT others(9): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG01943.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208a0001c0001t0001g0209 | 2 | 334 | 0.0060 | -16 | c.-4+ others(31): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
AP3M2_chr8_42148063_42176183 | 42162943 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0133 | 1 | 392 | 0.0026 | -16 | c.583 others(31): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
AP3S1_chr5_115836935_115919081 | 115845836 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02559.hp1 HG02615.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0334a0001c0001t0001g0335a0001c0001t0001g0336others(12): Show | 15 | 378 | 0.0397 | -16 | c.69+ others(31): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AP3S1_chr5_115836935_115919081 | 115855019 | ATATCTAT others(9): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0351 | 1 | 378 | 0.0027 | -16 | c.70- others(33): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AP3S2_chr15_89825599_89898994 | 89844209 | CTCTTTCT others(9): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02257.hp1 HG02258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0003g0069a0001c0001t0005g0076a0001c0001t0005g0077others(7): Show | 10 | 312 | 0.0321 | -16 | c.346 others(33): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89844257 | TTCTTTCT others(9): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG01109.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0207a0001c0001t0001g0209a0001c0001t0001g0222others(27): Show | 30 | 312 | 0.0962 | -16 | c.346 others(33): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89844300 | TTTCTTTC others(9): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00741.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0023a0002c0002t0013 | a0001c0001t0001g0014a0001c0001t0001g0033a0001c0001t0001g0034others(8): Show | 11 | 312 | 0.0353 | -16 | c.346 others(33): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89858481 | AAGAAAGA others(9): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0074 | 1 | 312 | 0.0032 | -16 | c.345 others(35): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89858485 | AAGAAAGA others(9): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG02717.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0076a0001c0001t0005g0078a0001c0001t0005g0081others(1): Show | 4 | 312 | 0.0128 | -16 | c.345 others(35): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50919535 | AAAATAAA others(9): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG01106.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0380a0001c0001t0004g0381a0001c0001t0004g0382others(4): Show | 7 | 392 | 0.0179 | -16 | c.346 others(33): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AP4E1_chr15_50903683_51010895 | 50975956 | CAGAGAGA others(9): Show |
C | intron_variant | MODIFIER | HG01975.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0043 | 1 | 392 | 0.0026 | -16 | c.196 others(35): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AP4S1_chr14_31020649_31101450 | 31049426 | AAAATATA others(9): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0010 | 1 | 346 | 0.0029 | -16 | c.-71 others(35): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP4S1_chr14_31020649_31101450 | 31049428 | AATATATA others(9): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0047 | a0001c0001t0001g0206a0001c0001t0047g0264 | 2 | 346 | 0.0058 | -16 | c.-71 others(35): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP4S1_chr14_31020649_31101450 | 31058527 | ATGTGTGT others(9): Show |
A | intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 346 | 0.0029 | -16 | c.-71 others(33): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP4S1_chr14_31020649_31101450 | 31061987 | CCACATTT others(9): Show |
C | intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 346 | 0.0029 | -16 | c.-71 others(33): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP5B1_chr11_65768898_65785976 | 65779948 | ACAGGGCC others(9): Show |
A | frameshift_variant | HIGH | NA18955.hp1 | a0013 | a0013c0015 | a0013c0015t0027 | a0013c0015t0027g0030 | 1 | 424 | 0.0024 | -16 | c.529 others(23): Show |
p.Gly others(5): Show |
AP5B1 | ENSG00000254470.3 | transcript | ENST00000532090.3 | protein_coding | 2/2 | 929/6980 | 529/2637 | 177/878 | chr11 | TogoVar | ||
APAF1_chr12_98640290_98740433 | 98653656 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0324 | 1 | 366 | 0.0027 | -16 | c.526 others(33): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98653681 | AAAAAAAA others(9): Show |
A | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0170 | 1 | 366 | 0.0027 | -16 | c.526 others(33): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98653689 | AAAATATA others(9): Show |
A | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 366 | 0.0027 | -16 | c.526 others(33): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98669884 | CCCCTCCC others(9): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01109.hp1 HG01884.hp2 others(2): Show |
a0001a0009 | a0001c0001a0009c0007 | a0001c0001t0004a0001c0001t0013a0009c0007t0029 | a0001c0001t0004g0191a0001c0001t0013g0301a0001c0001t0013g0302others(2): Show | 5 | 366 | 0.0137 | -16 | c.149 others(35): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98715235 | CATATATA others(9): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00639.hp1 others(46): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(46): Show | 49 | 366 | 0.1339 | -16 | c.295 others(33): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APBA1_chr9_69422532_69677371 | 69501629 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG04204.hp2 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0086a0001c0001t0001g0131a0001c0001t0006g0149 | 3 | 210 | 0.0143 | -16 | c.120 others(37): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 2/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69523481 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02683.hp2 HG02976.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0005g0175a0001c0001t0006g0146a0001c0001t0006g0149others(3): Show | 6 | 210 | 0.0286 | -16 | c.-69 others(33): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69636820 | AGAGAGAG others(9): Show |
A | intron_variant | MODIFIER | HG02970.hp2 HG03579.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0020a0002c0002t0030 | a0001c0001t0020g0068a0002c0002t0030g0067 | 2 | 210 | 0.0095 | -16 | c.-70 others(35): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69636824 | AGAGAGAG others(9): Show |
A | intron_variant | MODIFIER | HG01169.hp2 HG02004.hp1 HG02132.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0003 | a0001c0001t0001g0147a0001c0001t0002g0153a0002c0002t0003g0132others(2): Show | 5 | 210 | 0.0238 | -16 | c.-70 others(35): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69636922 | GGAAAGAA others(9): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0084 | 1 | 210 | 0.0048 | -16 | c.-70 others(35): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69658222 | CTCTTTCT others(9): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0011 | 1 | 210 | 0.0048 | -16 | c.-70 others(35): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69658292 | CTTTCTCT others(9): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0016 | 1 | 210 | 0.0048 | -16 | c.-70 others(35): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69658304 | CTCTTTCT others(9): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 | 1 | 210 | 0.0048 | -16 | c.-70 others(35): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28969128 | TTTTCTTT others(9): Show |
T | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0053a0002c0005t0001g0054 | 2 | 204 | 0.0098 | -16 | c.-94 others(35): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 28987725 | GAGAGATA others(9): Show |
G | intron_variant | MODIFIER | HG02630.hp1 NA19030.hp1 |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0041 | a0002c0002t0006g0108a0002c0002t0041g0119 | 2 | 204 | 0.0098 | -16 | c.-94 others(33): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 29039098 | GGTGTGTG others(9): Show |
G | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0071 | 1 | 204 | 0.0049 | -16 | c.-40 others(35): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 29055668 | AGTGTGTG others(9): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0002 | a0002c0006 | a0002c0006t0016 | a0002c0006t0016g0099a0002c0006t0016g0100 | 2 | 204 | 0.0098 | -16 | c.951 others(31): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26445128 | AAAAGAAA others(9): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00639.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(17): Show | 20 | 358 | 0.0559 | -16 | c.-1+ others(31): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB2_chr4_40805027_41219542 | 40904428 | CAAATAAA others(9): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02451.hp2 HG02559.hp2 others(9): Show |
a0001a0002 | a0001c0003a0002c0001a0002c0005 | a0001c0003t0001a0002c0001t0001a0002c0001t0003others(7): Show | a0001c0003t0001g0106a0001c0003t0001g0159a0002c0001t0001g0148others(9): Show | 12 | 192 | 0.0625 | -16 | c.125 others(37): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40907371 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG03130.hp1 HG03471.hp1 others(1): Show |
a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0005a0001c0003t0006a0001c0003t0030others(1): Show | a0001c0003t0005g0130a0001c0003t0006g0134a0001c0003t0030g0021others(1): Show | 4 | 192 | 0.0208 | -16 | c.125 others(37): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40930458 | CGCGCGCG others(9): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0001 | a0002c0001t0016 | a0002c0001t0016g0154 | 1 | 192 | 0.0052 | -16 | c.125 others(35): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40982323 | AAAAGAAA others(9): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0004 | a0001c0004t0051 | a0001c0004t0051g0141 | 1 | 192 | 0.0052 | -16 | c.835 others(35): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40982330 | AGAAGGAA others(9): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0004 | a0001c0004t0020 | a0001c0004t0020g0161 | 1 | 192 | 0.0052 | -16 | c.835 others(35): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41027364 | CATATATA others(9): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG02559.hp2 HG02723.hp1 others(7): Show |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0012a0001c0004t0020a0001c0004t0039others(7): Show | a0001c0004t0012g0001a0001c0004t0020g0036a0001c0004t0039g0180others(7): Show | 10 | 192 | 0.0521 | -16 | c.19+ others(31): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 5/17 | chr4 | TogoVar | ||||||
APC_chr5_112732885_112851239 | 112806552 | CTTTATTT others(9): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG03225.hp2 |
a0001 | a0001c0010a0001c0014 | a0001c0010t0007a0001c0014t0007 | a0001c0010t0007g0132a0001c0014t0007g0133 | 2 | 294 | 0.0068 | -16 | c.834 others(33): Show |
APC | ENSG00000134982.18 | transcript | ENST00000257430.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |