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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP4E1_chr15_50903683_51010895 | 50977706 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03225.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0302a0001c0001t0005g0303a0001c0001t0005g0305 | 3 | 392 | 0.0077 | 14 | c.196 others(33): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AP4M1_chr7_100096643_100114039 | 100099418 | C | CAAAAAAA others(7): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG01175.hp1 HG02055.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010a0001c0001t0003g0019a0001c0001t0003g0071others(1): Show | 8 | 416 | 0.0192 | 14 | c.-22 others(25): Show |
AP4M1 | ENSG00000221838.11 | transcript | ENST00000359593.9 | protein_coding | 2224 | chr7 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31049474 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01243.hp2 HG02056.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0040 | a0001c0001t0001g0283a0001c0001t0001g0284a0001c0001t0001g0285others(7): Show | 10 | 346 | 0.0289 | 14 | 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 | 31083496 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0264 | 1 | 346 | 0.0029 | 14 | c.306 others(31): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP5S1_chr20_3815547_3833838 | 3816995 | C | CTTTTTTT others(7): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 HG03195.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0028a0001c0001t0030 | a0001c0001t0019g0025a0001c0001t0028g0009a0001c0001t0030g0009 | 3 | 412 | 0.0073 | 14 | c.-37 others(25): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 3551 | chr20 | TogoVar | ||||||
AP5S1_chr20_3815547_3833838 | 3831665 | G | GTATATAT others(7): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0039 | a0001c0001t0005g0003a0001c0001t0039g0003 | 2 | 412 | 0.0049 | 14 | c.*73 others(25): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 2828 | chr20 | TogoVar | ||||||
AP5S1_chr20_3815547_3833838 | 3831665 | G | GTGTGTAT others(7): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02258.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(3): Show | a0001c0001t0002g0002a0001c0001t0004g0002a0001c0001t0010g0002others(3): Show | 18 | 412 | 0.0437 | 14 | c.*73 others(25): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 2828 | chr20 | TogoVar | ||||||
AP5S1_chr20_3815547_3833838 | 3831665 | G | GTGTGTGT others(7): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0017 | a0001c0001t0001g0001a0001c0001t0006g0006a0001c0001t0017g0002 | 3 | 412 | 0.0073 | 14 | c.*73 others(25): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 2828 | chr20 | TogoVar | ||||||
AP5S1_chr20_3815547_3833838 | 3831679 | A | ATATATAT others(7): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 HG01516.hp1 HG01517.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0001a0001c0001t0008g0003 | 4 | 412 | 0.0097 | 14 | c.*73 others(25): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 2842 | chr20 | TogoVar | ||||||
AP5Z1_chr7_4770623_4799397 | 4790150 | C | CCTCTTCA others(7): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0014 | a0001c0014t0006 | a0001c0014t0006g0096 | 1 | 340 | 0.0029 | 14 | c.180 others(31): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98653685 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 366 | 0.0027 | 14 | c.526 others(31): 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(7): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02738.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0118others(1): Show | 4 | 366 | 0.0109 | 14 | c.526 others(31): 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(7): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 366 | 0.0027 | 14 | c.526 others(31): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98653691 | A | ACTATATA others(7): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 366 | 0.0027 | 14 | c.526 others(31): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98715281 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02135.hp2 HG02148.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0324a0001c0001t0002g0332a0001c0001t0002g0344others(2): Show | 5 | 366 | 0.0137 | 14 | c.295 others(31): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 21/26 | chr12 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69523495 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0143 | 1 | 210 | 0.0048 | 14 | c.-69 others(31): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69636828 | A | AGGGAGGG others(7): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01358.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036a0001c0001t0002g0038a0001c0001t0002g0040 | 3 | 210 | 0.0143 | 14 | c.-70 others(33): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69658260 | C | CTTTCTTT others(7): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01255.hp2 HG01496.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0116a0001c0001t0002g0153a0001c0001t0002g0155others(3): Show | 6 | 210 | 0.0286 | 14 | c.-70 others(33): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69658264 | C | CTTTCTTT others(7): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01169.hp2 HG01361.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0021a0002c0002t0003 | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0157others(5): Show | 8 | 210 | 0.0381 | 14 | c.-70 others(33): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69658268 | C | CTTTCTTT others(7): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 210 | 0.0048 | 14 | c.-70 others(33): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69658272 | C | CTTTCTTT others(7): Show |
intron_variant | MODIFIER | HG01074.hp2 HG03209.hp2 HG03471.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0131a0002c0002t0003g0119a0002c0002t0003g0120 | 3 | 210 | 0.0143 | 14 | c.-70 others(33): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69658276 | C | CTTTCTTT others(7): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0036 | a0001c0001t0001g0179a0001c0001t0036g0208 | 2 | 210 | 0.0095 | 14 | c.-70 others(33): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69658282 | T | TTCTTTCT others(7): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0058a0001c0001t0002g0080 | 2 | 210 | 0.0095 | 14 | c.-70 others(33): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69658284 | C | CTTTCTTT others(7): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 210 | 0.0048 | 14 | c.-70 others(33): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69658304 | C | CTCTCTTT others(7): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02486.hp1 HG02809.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0008a0002c0002t0003others(1): Show | a0001c0001t0002g0076a0001c0001t0002g0079a0001c0001t0002g0085others(4): Show | 7 | 210 | 0.0333 | 14 | c.-70 others(33): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28901908 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG01071.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0014a0001c0001t0001g0038a0001c0001t0002g0144others(16): Show | 19 | 204 | 0.0931 | 14 | c.-20 others(35): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 28987725 | G | GATATATA others(7): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02486.hp1 HG04199.hp2 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0010 | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(1): Show | a0001c0001t0001g0019a0001c0001t0002g0183a0002c0002t0003g0182others(1): Show | 4 | 204 | 0.0196 | 14 | 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(7): Show |
intron_variant | MODIFIER | NA18956.hp2 NA18962.hp2 NA18970.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001 | a0001c0001t0001g0010a0001c0001t0005g0024a0001c0001t0005g0034others(1): Show | 4 | 204 | 0.0196 | 14 | c.-40 others(31): 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(7): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01934.hp2 HG01978.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0005a0001c0001t0002g0195a0001c0001t0005g0033others(7): Show | 10 | 204 | 0.0490 | 14 | c.-40 others(31): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29045103 | C | CTCTCTCT others(7): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01884.hp2 HG01891.hp1 others(14): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0003others(4): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(10): Show | a0001c0001t0003g0104a0001c0001t0006g0160a0001c0001t0008g0194others(14): Show | 17 | 204 | 0.0833 | 14 | c.-40 others(31): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29052454 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02572.hp1 HG02896.hp1 others(6): Show |
a0001a0002 | a0001c0007a0002c0002a0002c0003others(1): Show | a0001c0007t0004a0002c0002t0002a0002c0002t0003others(6): Show | a0001c0007t0004g0044a0002c0002t0002g0180a0002c0002t0003g0094others(6): Show | 9 | 204 | 0.0441 | 14 | c.-40 others(31): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 29119629 | T | TAAATAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 HG03453.hp2 HG06807.hp2 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0008a0002c0006t0017 | a0001c0001t0008g0194a0002c0006t0017g0114a0002c0006t0017g0203 | 3 | 204 | 0.0147 | 14 | c.*24 others(25): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 1315 | chr15 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26438460 | G | GGGAGGGA others(7): Show |
splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(245): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(245): Show | 248 | 358 | 0.6927 | 14 | c.-20 others(27): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26510734 | T | TCTCTCTC others(7): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0213 | 2 | 358 | 0.0056 | 14 | c.532 others(31): 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(7): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00639.hp2 HG00735.hp1 others(54): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0005a0001c0001t0001g0011a0001c0001t0001g0012others(54): Show | 57 | 358 | 0.1592 | 14 | c.813 others(31): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26558140 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0007 | a0007c0007 | a0007c0007t0002 | a0007c0007t0002g0309 | 1 | 358 | 0.0028 | 14 | c.115 others(33): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB2_chr4_40805027_41219542 | 40832013 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0105 | 1 | 192 | 0.0052 | 14 | c.153 others(33): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40832013 | T | TATACACA others(7): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01069.hp1 HG01071.hp1 others(5): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0018a0001c0003t0001others(3): Show | a0001c0002t0001g0137a0001c0002t0018g0003a0001c0002t0018g0005others(5): Show | 8 | 192 | 0.0417 | 14 | c.153 others(33): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40832013 | T | TATATACA others(7): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0002 | a0002c0001 | a0002c0001t0037 | a0002c0001t0037g0126 | 1 | 192 | 0.0052 | 14 | c.153 others(33): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40845588 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0001 | a0002c0001t0047 | a0002c0001t0047g0057 | 1 | 192 | 0.0052 | 14 | c.153 others(35): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40851717 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0005 | a0002c0005t0023 | a0002c0005t0023g0165 | 1 | 192 | 0.0052 | 14 | c.153 others(35): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40898880 | C | CACACACA others(7): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02970.hp1 HG02976.hp1 others(3): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0001 | a0001c0003t0001a0001c0004t0009a0002c0001t0001others(3): Show | a0001c0003t0001g0069a0001c0004t0009g0114a0002c0001t0001g0117others(3): Show | 6 | 192 | 0.0313 | 14 | c.125 others(33): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40901909 | A | ATATGTGT others(7): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0002 | a0002c0001 | a0002c0001t0050 | a0002c0001t0050g0188 | 1 | 192 | 0.0052 | 14 | c.125 others(33): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40907379 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0001 | a0002c0001t0014 | a0002c0001t0014g0128 | 1 | 192 | 0.0052 | 14 | c.125 others(35): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40946254 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0174 | 1 | 192 | 0.0052 | 14 | c.836 others(31): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40964753 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(55): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(39): Show | a0001c0002t0001g0110a0001c0002t0002g0085a0001c0002t0002g0122others(55): Show | 58 | 192 | 0.3021 | 14 | c.836 others(33): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40975753 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01169.hp1 HG01516.hp2 others(8): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0002a0001c0003t0006a0002c0001t0001others(8): Show | a0001c0002t0002g0122a0001c0003t0006g0134a0002c0001t0001g0065others(8): Show | 11 | 192 | 0.0573 | 14 | c.836 others(33): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41000105 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp2 others(9): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(7): Show | a0001c0002t0001g0099a0001c0002t0001g0173a0001c0002t0002g0084others(9): Show | 12 | 192 | 0.0625 | 14 | c.835 others(33): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41027364 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01109.hp2 |
a0003 | a0003c0006 | a0003c0006t0015 | a0003c0006t0015g0081a0003c0006t0015g0082a0003c0006t0015g0131 | 3 | 192 | 0.0156 | 14 | c.19+ others(29): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 5/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41033584 | T | TCACACAC others(7): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01891.hp1 HG02109.hp2 others(2): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0010a0001c0003t0011a0001c0003t0032others(1): Show | a0001c0003t0010g0007a0001c0003t0011g0015a0001c0003t0011g0016others(2): Show | 5 | 192 | 0.0260 | 14 | c.-50 others(29): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 4/17 | chr4 | TogoVar |