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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
APELA_chr4_164872178_164902527 | 164899631 | GGAGAGA | G | downstream_gene_variant | MODIFIER | HG01168.hp2 HG01433.hp2 HG01981.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0239others(1): Show | 4 | 434 | 0.0092 | -6 | c.*42 others(17): Show |
APELA | ENSG00000248329.6 | transcript | ENST00000507152.6 | protein_coding | 2105 | chr4 | TogoVar | ||||||
APELA_chr4_164872178_164902527 | 164899666 | GAGAGAA | G | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG01109.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0029a0001c0002t0003others(1): Show | a0001c0001t0003g0010a0001c0001t0003g0085a0001c0001t0003g0115others(4): Show | 9 | 434 | 0.0207 | -6 | c.*42 others(17): Show |
APELA | ENSG00000248329.6 | transcript | ENST00000507152.6 | protein_coding | 2140 | chr4 | TogoVar | ||||||
APEX2_chrX_54995363_55014057 | 55012794 | AAAAAAC | A | downstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 303 | 0.0033 | -6 | c.*53 others(17): Show |
APEX2 | ENSG00000169188.5 | transcript | ENST00000374987.4 | protein_coding | 3738 | chrX | TogoVar | ||||||
APH1B_chr15_63272605_63314126 | 63298840 | TAATATA | T | intron_variant | MODIFIER | HG02258.hp1 HG02809.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224a0001c0001t0001g0225a0001c0001t0001g0226others(1): Show | 4 | 422 | 0.0095 | -6 | c.479 others(23): Show |
APH1B | ENSG00000138613.14 | transcript | ENST00000261879.10 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
API5_chr11_43306996_43349529 | 43310387 | CTTTTCT | C | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00735.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0046a0001c0001t0001g0070others(10): Show | 23 | 384 | 0.0599 | -6 | c.-17 others(17): Show |
API5 | ENSG00000166181.13 | transcript | ENST00000531273.6 | protein_coding | 1608 | chr11 | TogoVar | ||||||
APIP_chr11_34877295_34921379 | 34898785 | GGTTTTT | G | intron_variant | MODIFIER | HG01361.hp1 HG01496.hp1 HG02451.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0007a0001c0001t0003g0012a0001c0001t0003g0031others(7): Show | 19 | 355 | 0.0535 | -6 | c.58- others(21): Show |
APIP | ENSG00000149089.13 | transcript | ENST00000395787.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
APLF_chr2_68462585_68585162 | 68468989 | GGTGTGT | G | intron_variant | MODIFIER | HG02300.hp2 HG02738.hp1 HG03195.hp1 others(6): Show |
a0004a0006 | a0004c0004a0006c0007 | a0004c0004t0003a0006c0007t0017 | a0004c0004t0003g0013a0004c0004t0003g0014a0004c0004t0003g0015others(6): Show | 9 | 176 | 0.0511 | -6 | c.96+ others(21): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
APLF_chr2_68462585_68585162 | 68501436 | AAACACC | A | intron_variant | MODIFIER | HG02129.hp1 HG02293.hp1 HG02300.hp2 others(11): Show |
a0004a0011 | a0004c0004a0011c0015 | a0004c0004t0003a0011c0015t0013 | a0004c0004t0003g0008a0004c0004t0003g0009a0004c0004t0003g0010others(11): Show | 14 | 176 | 0.0796 | -6 | c.169 others(23): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
APLF_chr2_68462585_68585162 | 68513770 | TATAGAG | T | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01167.hp2 others(53): Show |
a0002a0004a0008others(3): Show | a0002c0002a0002c0011a0004c0004others(4): Show | a0002c0002t0002a0002c0002t0006a0002c0002t0007others(10): Show | a0002c0002t0002g0033a0002c0002t0002g0034a0002c0002t0002g0035others(51): Show | 56 | 176 | 0.3182 | -6 | c.622 others(20): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
APLF_chr2_68462585_68585162 | 68518466 | CATATTA | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0001 | 2 | 176 | 0.0114 | -6 | c.622 others(23): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
APLP2_chr11_130064894_130149805 | 130121757 | TGAAGAG | T | disruptive_inframe_deletion | MODERATE | HG00408.hp1 HG01109.hp2 HG01243.hp1 others(21): Show |
a0003a0004a0006 | a0003c0003a0004c0004a0006c0006 | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(7): Show | a0003c0003t0001g0001a0003c0003t0001g0005a0003c0003t0001g0077others(20): Show | 24 | 274 | 0.0876 | -6 | c.678 others(13): Show |
p.Glu others(13): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 5/17 | 762/3697 | 678/2256 | 226/751 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
APOA1_chr11_116830751_116842622 | 116831191 | TTCTTTC | T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG01070.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005 | 25 | 448 | 0.0558 | -6 | c.*46 others(17): Show |
APOA1 | ENSG00000118137.10 | transcript | ENST00000236850.5 | protein_coding | 4559 | chr11 | TogoVar | ||||||
APOA1_chr11_116830751_116842622 | 116831277 | TTCTTTC | T | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG01255.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0005t0001a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0005t0001g0011others(1): Show | 23 | 448 | 0.0513 | -6 | c.*45 others(17): Show |
APOA1 | ENSG00000118137.10 | transcript | ENST00000236850.5 | protein_coding | 4473 | chr11 | TogoVar | ||||||
APOA2_chr1_161217292_161228628 | 161221660 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG02004.hp1 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0011 | 58 | 430 | 0.1349 | -6 | c.*73 others(15): Show |
APOA2 | ENSG00000158874.11 | transcript | ENST00000367990.7 | protein_coding | 631 | chr1 | TogoVar | ||||||
APOA2_chr1_161217292_161228628 | 161223055 | CCACACA | C | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG00544.hp1 HG00544.hp2 others(152): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001a0002c0003t0001g0014 | 155 | 430 | 0.3605 | -6 | c.53- others(16): Show |
APOA2 | ENSG00000158874.11 | transcript | ENST00000367990.7 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
APOA2_chr1_161217292_161228628 | 161225919 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01099.hp2 HG01168.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005 | 9 | 430 | 0.0209 | -6 | c.-23 others(17): Show |
APOA2 | ENSG00000158874.11 | transcript | ENST00000367990.7 | protein_coding | 2292 | chr1 | TogoVar | ||||||
APOA4_chr11_116815700_116828304 | 116824768 | AAAAAAT | A | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01123.hp2 HG01243.hp2 others(16): Show |
a0001 | a0001c0001a0001c0003a0001c0021 | a0001c0001t0001a0001c0003t0001a0001c0021t0001 | a0001c0001t0001g0004a0001c0003t0001g0005a0001c0021t0001g0030 | 19 | 462 | 0.0411 | -6 | c.-15 others(17): Show |
APOA4 | ENSG00000110244.7 | transcript | ENST00000357780.5 | protein_coding | 1465 | chr11 | TogoVar | ||||||
APOA4_chr11_116815700_116828304 | 116824795 | ATTTTTT | A | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01243.hp1 HG02148.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0007a0001c0001t0002g0001a0001c0001t0004g0038others(1): Show | 8 | 462 | 0.0173 | -6 | c.-16 others(17): Show |
APOA4 | ENSG00000110244.7 | transcript | ENST00000357780.5 | protein_coding | 1492 | chr11 | TogoVar | ||||||
APOA4_chr11_116815700_116828304 | 116828132 | ATCTCTC | A | upstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0010a0001c0001t0004g0038 | 3 | 462 | 0.0065 | -6 | c.-49 others(17): Show |
APOA4 | ENSG00000110244.7 | transcript | ENST00000357780.5 | protein_coding | 4829 | chr11 | TogoVar | ||||||
APOBEC1_chr12_7644400_7670908 | 7657043 | CGTGTGT | C | intron_variant | MODIFIER | HG00099.hp1 HG01192.hp1 HG01257.hp1 others(11): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0001a0002c0001t0001 | a0001c0002t0001g0321a0001c0002t0001g0322a0001c0002t0001g0323others(11): Show | 14 | 432 | 0.0324 | -6 | c.17- others(21): Show |
APOBEC1 | ENSG00000111701.7 | transcript | ENST00000229304.5 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
APOBEC1_chr12_7644400_7670908 | 7659294 | CAAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG01070.hp1 others(22): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0001a0002c0001t0001 | a0001c0002t0001g0341a0001c0002t0001g0364a0001c0002t0001g0397others(19): Show | 25 | 432 | 0.0579 | -6 | c.17- others(21): Show |
APOBEC1 | ENSG00000111701.7 | transcript | ENST00000229304.5 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
APOBEC1_chr12_7644400_7670908 | 7659318 | AAAAAAT | A | intron_variant | MODIFIER | HG00408.hp1 HG01074.hp1 HG01192.hp1 others(16): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0036a0001c0003t0001g0004a0001c0003t0001g0005others(13): Show | 19 | 432 | 0.0440 | -6 | c.17- others(21): Show |
APOBEC1 | ENSG00000111701.7 | transcript | ENST00000229304.5 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
APOBEC1_chr12_7644400_7670908 | 7665752 | GACACAC | G | intron_variant | MODIFIER | HG01433.hp1 HG02055.hp2 HG02280.hp2 others(5): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0001a0002c0001t0001 | a0001c0002t0001g0106a0001c0002t0001g0107a0001c0003t0001g0109others(5): Show | 8 | 432 | 0.0185 | -6 | c.16+ others(18): Show |
APOBEC1 | ENSG00000111701.7 | transcript | ENST00000229304.5 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
APOBEC2_chr6_41048202_41069891 | 41058149 | CCCCACA | C | intron_variant | MODIFIER | HG00099.hp2 HG01884.hp2 HG01891.hp2 others(47): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0015others(21): Show | 50 | 360 | 0.1389 | -6 | c.132 others(23): Show |
APOBEC2 | ENSG00000124701.6 | transcript | ENST00000244669.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
APOBEC2_chr6_41048202_41069891 | 41058399 | CCACACA | C | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG01069.hp2 others(6): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0012t0001 | a0001c0001t0001g0033a0001c0001t0001g0116a0001c0001t0002g0030others(3): Show | 9 | 360 | 0.0250 | -6 | c.132 others(23): Show |
APOBEC2 | ENSG00000124701.6 | transcript | ENST00000244669.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
APOBEC3C_chr22_39009257_39025352 | 39009421 | AAAAAAC | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(236): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0014others(135): Show | 239 | 460 | 0.5196 | -6 | c.-49 others(17): Show |
APOBEC3C | ENSG00000244509.4 | transcript | ENST00000361441.5 | protein_coding | 4835 | chr22 | TogoVar | ||||||
APOBEC3C_chr22_39009257_39025352 | 39014028 | CCTTTCT | C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0014 | a0001c0001t0002g0001a0001c0001t0005g0002a0001c0001t0014g0002others(1): Show | 6 | 460 | 0.0130 | -6 | c.-33 others(15): Show |
APOBEC3C | ENSG00000244509.4 | transcript | ENST00000361441.5 | protein_coding | 228 | chr22 | TogoVar | ||||||
APOBEC3D_chr22_39016127_39038277 | 39034949 | GTTTTGT | G | downstream_gene_variant | MODIFIER | HG01175.hp2 HG01884.hp2 HG01891.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0018a0002c0002t0016a0002c0005t0008others(1): Show | a0001c0001t0018g0049a0001c0001t0018g0143a0002c0002t0016g0178others(2): Show | 6 | 458 | 0.0131 | -6 | c.*26 others(17): Show |
APOBEC3D | ENSG00000243811.12 | transcript | ENST00000216099.13 | protein_coding | 1673 | chr22 | TogoVar | ||||||
APOBEC3G_chr22_39072275_39092743 | 39073807 | GAAAAGA | G | upstream_gene_variant | MODIFIER | HG02559.hp2 HG02717.hp1 NA18522.hp2 |
a0001a0002 | a0001c0001a0001c0014a0002c0003 | a0001c0001t0001a0001c0014t0002a0002c0003t0001 | a0001c0001t0001g0092a0001c0014t0002g0045a0002c0003t0001g0004 | 3 | 424 | 0.0071 | -6 | c.-35 others(17): Show |
APOBEC3G | ENSG00000239713.9 | transcript | ENST00000407997.4 | protein_coding | 3467 | chr22 | TogoVar | ||||||
APOBEC3H_chr22_39092244_39109067 | 39093582 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01243.hp2 HG02723.hp1 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0011a0002c0002t0003a0002c0002t0004others(4): Show | a0001c0001t0011g0065a0002c0002t0003g0006a0002c0002t0003g0047others(7): Show | 13 | 418 | 0.0311 | -6 | c.-37 others(17): Show |
APOBEC3H | ENSG00000100298.16 | transcript | ENST00000442487.8 | protein_coding | 3661 | chr22 | TogoVar | ||||||
APOBR_chr16_28489643_28503964 | 28492313 | GGCTTCA | G | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(29): Show |
a0001a0017 | a0001c0001a0017c0032 | a0001c0001t0001a0001c0001t0002a0017c0032t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0002g0001others(1): Show | 32 | 406 | 0.0788 | -6 | c.-23 others(17): Show |
APOBR | ENSG00000184730.12 | transcript | ENST00000564831.6 | protein_coding | 2329 | chr16 | TogoVar | ||||||
APOC2_chr19_44941051_44954565 | 44946191 | CTGTGTG | C | intron_variant | MODIFIER | HG01074.hp1 HG02109.hp1 HG02886.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017a0001c0001t0001g0023a0001c0001t0001g0025others(1): Show | 8 | 398 | 0.0201 | -6 | c.-14 others(21): Show |
APOC2 | ENSG00000234906.11 | transcript | ENST00000252490.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
APOC3_chr11_116824907_116838072 | 116828132 | ATCTCTC | A | upstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0044 | 3 | 450 | 0.0067 | -6 | c.-18 others(17): Show |
APOC3 | ENSG00000110245.12 | transcript | ENST00000227667.8 | protein_coding | 1774 | chr11 | TogoVar | ||||||
APOC3_chr11_116824907_116838072 | 116831191 | TTCTTTC | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG01070.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0003a0001c0001t0001g0042a0001c0001t0001g0043others(4): Show | 28 | 450 | 0.0622 | -6 | c.179 others(21): Show |
APOC3 | ENSG00000110245.12 | transcript | ENST00000227667.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
APOC3_chr11_116824907_116838072 | 116831277 | TTCTTTC | T | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp1 HG01243.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0016others(15): Show | 34 | 450 | 0.0756 | -6 | c.179 others(21): Show |
APOC3 | ENSG00000110245.12 | transcript | ENST00000227667.8 | protein_coding | 3/3 | chr11 | TogoVar | ||||||
APOC4_chr19_44937237_44950496 | 44946191 | CTGTGTG | C | downstream_gene_variant | MODIFIER | HG01074.hp1 HG02109.hp1 HG02886.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0002g0003a0001c0001t0002g0018others(2): Show | 7 | 398 | 0.0176 | -6 | c.*88 others(15): Show |
APOC4 | ENSG00000267467.4 | transcript | ENST00000592954.2 | protein_coding | 696 | chr19 | TogoVar | ||||||
APOD_chr3_195563705_195588940 | 195584157 | CGCGCGT | C | upstream_gene_variant | MODIFIER | HG02622.hp1 HG03225.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0106a0001c0001t0003g0171a0001c0001t0003g0179 | 3 | 438 | 0.0069 | -6 | c.-32 others(15): Show |
APOD | ENSG00000189058.9 | transcript | ENST00000343267.8 | protein_coding | 218 | chr3 | TogoVar | ||||||
APOD_chr3_195563705_195588940 | 195587794 | TACACAC | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(261): Show |
a0001a0004 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(143): Show | 264 | 438 | 0.6027 | -6 | c.-39 others(17): Show |
APOD | ENSG00000189058.9 | transcript | ENST00000343267.8 | protein_coding | 3855 | chr3 | TogoVar | ||||||
APOH_chr17_66207033_66234415 | 66209868 | ACACAAC | A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(79): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(5): Show | a0001c0001t0001g0200a0001c0001t0001g0266a0001c0001t0001g0342others(70): Show | 82 | 386 | 0.2124 | -6 | c.*22 others(17): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 2164 | chr17 | TogoVar | ||||||
APOL1_chr22_36248133_36272525 | 36265995 | AATAATT | A | disruptive_inframe_deletion | MODERATE | HG01891.hp1 HG02258.hp2 HG02572.hp2 others(8): Show |
a0005 | a0005c0005 | a0005c0005t0001a0005c0005t0007 | a0005c0005t0001g0136a0005c0005t0007g0013a0005c0005t0007g0047others(3): Show | 11 | 414 | 0.0266 | -6 | c.116 others(15): Show |
p.Asn others(13): Show |
APOL1 | ENSG00000100342.22 | transcript | ENST00000397278.8 | protein_coding | 6/6 | 1270/2795 | 1164/1197 | 388/398 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
APOL2_chr22_36221209_36244527 | 36235746 | TGGGTGG | T | intron_variant | MODIFIER | HG02965.hp1 HG03041.hp1 HG03098.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0025a0001c0001t0037others(3): Show | a0001c0001t0008g0030a0001c0001t0025g0216a0001c0001t0037g0210others(3): Show | 7 | 384 | 0.0182 | -6 | c.-13 others(25): Show |
APOL2 | ENSG00000128335.14 | transcript | ENST00000358502.10 | protein_coding | 1/4 | chr22 | TogoVar | ||||||
APOL2_chr22_36221209_36244527 | 36235750 | TGGGTGG | T | intron_variant | MODIFIER | HG00639.hp1 HG01361.hp1 HG02109.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0052 | a0002c0002t0006g0048a0002c0002t0006g0062a0002c0002t0052g0213 | 4 | 384 | 0.0104 | -6 | c.-13 others(25): Show |
APOL2 | ENSG00000128335.14 | transcript | ENST00000358502.10 | protein_coding | 1/4 | chr22 | TogoVar | ||||||
APOL3_chr22_36135329_36165755 | 36145980 | TTCTCTC | T | intron_variant | MODIFIER | HG01243.hp1 HG02572.hp1 HG02723.hp2 others(5): Show |
a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0023a0003c0007t0001g0047a0003c0007t0001g0160others(2): Show | 8 | 366 | 0.0219 | -6 | c.11- others(19): Show |
APOL3 | ENSG00000128284.20 | transcript | ENST00000424878.4 | protein_coding | 2/3 | chr22 | TogoVar | ||||||
APOL3_chr22_36135329_36165755 | 36158966 | CGTGTGT | C | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01074.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0005a0002c0009 | a0001c0001t0001a0001c0001t0005a0002c0005t0005others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0012a0001c0001t0001g0024others(12): Show | 26 | 366 | 0.0710 | -6 | c.-88 others(23): Show |
APOL3 | ENSG00000128284.20 | transcript | ENST00000424878.4 | protein_coding | 1/3 | chr22 | TogoVar | ||||||
APOL4_chr22_36184128_36206809 | 36190212 | AGGGTGT | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(301): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0007a0003c0004others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(137): Show | 304 | 434 | 0.7005 | -6 | c.*85 others(15): Show |
APOL4 | ENSG00000100336.18 | transcript | ENST00000683024.1 | protein_coding | 4/4 | 857 | chr22 | TogoVar | |||||
APOL4_chr22_36184128_36206809 | 36195772 | TCTCTCA | T | intron_variant | MODIFIER | HG00621.hp1 HG03209.hp1 NA18522.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0046a0001c0001t0001g0080a0001c0001t0001g0148others(2): Show | 6 | 434 | 0.0138 | -6 | c.83- others(19): Show |
APOL4 | ENSG00000100336.18 | transcript | ENST00000683024.1 | protein_coding | 2/3 | chr22 | TogoVar | ||||||
APOL4_chr22_36184128_36206809 | 36195776 | TCACACA | T | intron_variant | MODIFIER | HG01192.hp2 HG01261.hp2 HG01361.hp2 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0031 | a0002c0002t0002g0007a0002c0002t0002g0024a0002c0002t0002g0081others(3): Show | 14 | 434 | 0.0323 | -6 | c.83- others(19): Show |
APOL4 | ENSG00000100336.18 | transcript | ENST00000683024.1 | protein_coding | 2/3 | chr22 | TogoVar | ||||||
APOL5_chr22_35712872_35734483 | 35716995 | GTTGTGT | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(274): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0008others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0031others(96): Show | 277 | 401 | 0.6908 | -6 | c.-87 others(15): Show |
APOL5 | ENSG00000128313.2 | transcript | ENST00000249044.2 | protein_coding | 876 | chr22 | TogoVar | ||||||
APOL5_chr22_35712872_35734483 | 35718593 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(220): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0008others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0009a0001c0001t0001g0031a0001c0001t0001g0084others(71): Show | 223 | 401 | 0.5561 | -6 | c.55+ others(19): Show |
APOL5 | ENSG00000128313.2 | transcript | ENST00000249044.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
APOL6_chr22_35643446_35673404 | 35643499 | AACACAC | A | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02486.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0027others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0043a0001c0001t0001g0056others(11): Show | 15 | 386 | 0.0389 | -6 | c.-51 others(17): Show |
APOL6 | ENSG00000221963.6 | transcript | ENST00000409652.5 | protein_coding | 4946 | chr22 | TogoVar |