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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
APLF_chr2_68462585_68585162 | 68516959 | TATA | T | intron_variant | MODIFIER | NA18966.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 a0001c0001t0001g0092 |
2 | 174 | 0.0115 | -3 | 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 | 68516987 | TATA | T | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02622.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0160 a0002c0002t0006g0161 a0002c0002t0006g0162 others(1): Show |
4 | 174 | 0.0230 | -3 | 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 | 68517050 | GTTA | G | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02486.hp1 others(2): Show |
a0002a0009 | a0002c0002a0009c0008 | a0002c0002t0006a0009c0008t0006 | a0002c0002t0006g0160 a0002c0002t0006g0161 a0002c0002t0006g0162 others(2): Show |
5 | 174 | 0.0287 | -3 | 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 | 68517083 | GTTA | G | intron_variant | MODIFIER | HG03098.hp1 HG03195.hp1 HG03486.hp1 others(2): Show |
a0006 | a0006c0007a0006c0013 | a0006c0007t0006a0006c0007t0017a0006c0013t0016 | a0006c0007t0006g0002 a0006c0007t0006g0033 a0006c0007t0017g0023 others(1): Show |
5 | 174 | 0.0287 | -3 | 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 | 68517172 | TATA | T | intron_variant | MODIFIER | HG02129.hp1 HG02293.hp1 HG02300.hp2 others(11): Show |
a0004a0012 | a0004c0004a0012c0015 | a0004c0004t0003a0012c0015t0013 | a0004c0004t0003g0009 a0004c0004t0003g0010 a0004c0004t0003g0011 others(11): Show |
14 | 174 | 0.0805 | -3 | 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 | 68517470 | GTTA | G | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01169.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0001 a0002c0002t0007g0029 a0002c0002t0007g0030 others(1): Show |
5 | 174 | 0.0287 | -3 | 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 | 68517612 | CTAA | C | intron_variant | MODIFIER | HG03098.hp1 HG03195.hp1 HG03486.hp2 others(1): Show |
a0006 | a0006c0007 | a0006c0007t0006a0006c0007t0017 | a0006c0007t0006g0002 a0006c0007t0006g0033 a0006c0007t0017g0023 |
4 | 174 | 0.0230 | -3 | 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 | 68517661 | TAAC | T | intron_variant | MODIFIER | HG01167.hp2 HG02055.hp1 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0024 a0002c0002t0008g0025 a0002c0002t0008g0026 |
3 | 174 | 0.0172 | -3 | 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 | 68518279 | TATA | T | intron_variant | MODIFIER | HG03098.hp1 HG03195.hp1 HG03486.hp1 others(2): Show |
a0006 | a0006c0007a0006c0013 | a0006c0007t0006a0006c0007t0017a0006c0013t0016 | a0006c0007t0006g0002 a0006c0007t0006g0033 a0006c0007t0017g0023 others(1): Show |
5 | 174 | 0.0287 | -3 | 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 | 68518467 | ATAT | A | intron_variant | MODIFIER | HG01109.hp1 HG03209.hp1 HG03540.hp1 others(1): Show |
a0002a0011 | a0002c0002a0011c0012 | a0002c0002t0007a0011c0012t0007 | a0002c0002t0007g0029 a0002c0002t0007g0030 a0002c0002t0007g0031 others(1): Show |
4 | 174 | 0.0230 | -3 | 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 | 68518627 | TATA | T | intron_variant | MODIFIER | HG00323.hp2 HG00673.hp2 HG00741.hp2 others(12): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0064 others(10): Show |
15 | 174 | 0.0862 | -3 | 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 | 68518711 | CAAT | C | intron_variant | MODIFIER | HG03098.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0088 a0001c0001t0015g0089 |
2 | 174 | 0.0115 | -3 | 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 | 68518764 | TTAA | T | intron_variant | MODIFIER | HG01884.hp2 HG03225.hp2 HG03516.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0012 | a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0012g0022 |
3 | 174 | 0.0172 | -3 | 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 | 68518962 | CATA | C | intron_variant | MODIFIER | HG02055.hp1 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0024 a0002c0002t0008g0026 |
2 | 174 | 0.0115 | -3 | 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 | 68519094 | TATA | T | intron_variant | MODIFIER | HG02129.hp1 HG02293.hp1 HG02300.hp2 others(11): Show |
a0004a0012 | a0004c0004a0012c0015 | a0004c0004t0003a0012c0015t0013 | a0004c0004t0003g0009 a0004c0004t0003g0010 a0004c0004t0003g0011 others(11): Show |
14 | 148 | 0.0946 | -3 | 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 | 68538002 | AAAG | A | disruptive_inframe_deletion | MODERATE | HG00639.hp2 HG01109.hp2 HG01192.hp2 others(2): Show |
a0005 | a0005c0005 | a0005c0005t0001a0005c0005t0014 | a0005c0005t0001g0143 a0005c0005t0001g0148 a0005c0005t0001g0152 others(2): Show |
5 | 174 | 0.0287 | -3 | c.938 others(10): Show |
p.Arg others(6): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 7/10 | 1085/3823 | 938/1536 | 313/511 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
APLF_chr2_68462585_68585162 | 68538642 | TTGA | T | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01169.hp1 others(27): Show |
a0002a0010a0011 | a0002c0002a0002c0011a0010c0014others(1): Show | a0002c0002t0002a0002c0002t0007a0002c0002t0009others(3): Show | a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 others(25): Show |
30 | 174 | 0.1724 | -3 | c.116 others(20): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 7/9 | chr2 | TogoVar | |||||||
APLF_chr2_68462585_68585162 | 68541339 | TAGA | T | intron_variant | MODIFIER | HG02451.hp2 HG03041.hp2 HG03516.hp2 |
a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0166 a0002c0002t0010g0167 a0002c0002t0010g0168 |
3 | 174 | 0.0172 | -3 | c.116 others(22): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
APLF_chr2_68462585_68585162 | 68548868 | TTCA | T | intron_variant | MODIFIER | HG01167.hp2 HG02055.hp1 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0024 a0002c0002t0008g0025 a0002c0002t0008g0026 |
3 | 174 | 0.0172 | -3 | c.128 others(22): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
APLF_chr2_68462585_68585162 | 68560989 | ATAT | A | intron_variant | MODIFIER | HG01167.hp2 HG02055.hp1 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0024 a0002c0002t0008g0025 a0002c0002t0008g0026 |
3 | 174 | 0.0172 | -3 | c.128 others(22): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
APLF_chr2_68462585_68585162 | 68570285 | TTAA | T | intron_variant | MODIFIER | HG02129.hp1 HG02293.hp1 HG02300.hp2 others(10): Show |
a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0009 a0004c0004t0003g0010 a0004c0004t0003g0011 others(10): Show |
13 | 174 | 0.0747 | -3 | c.133 others(22): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
APLNR_chr11_57228591_57242250 | 57239109 | CAAA | C | upstream_gene_variant | MODIFIER | HG01070.hp2 NA18965.hp1 NA18972.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(1): Show |
9 | 112 | 0.0804 | -3 | c.-21 others(14): Show |
APLNR | ENSG00000134817.12 | transcript | ENST00000606794.2 | protein_coding | 1860 | chr11 | TogoVar | |||||||
APLP2_chr11_130064894_130149805 | 130065427 | CTTT | C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01257.hp2 HG02280.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009 | a0001c0001t0001g0132 a0001c0001t0004g0010 a0001c0001t0004g0250 others(4): Show |
7 | 121 | 0.0579 | -3 | c.-45 others(14): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 4466 | chr11 | TogoVar | |||||||
APLP2_chr11_130064894_130149805 | 130067080 | CTTT | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG02074.hp1 HG02630.hp2 others(11): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0007 | a0001c0001t0001a0002c0002t0003a0002c0002t0008others(1): Show | a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0156 others(11): Show |
14 | 55 | 0.2545 | -3 | c.-28 others(14): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 2813 | chr11 | TogoVar | |||||||
APLP2_chr11_130064894_130149805 | 130067704 | CCTA | C | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02895.hp1 HG02897.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0002c0002t0001 | a0001c0001t0011g0244 a0002c0002t0001g0247 a0002c0002t0001g0248 |
3 | 272 | 0.0110 | -3 | c.-22 others(14): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 2189 | chr11 | TogoVar | |||||||
APLP2_chr11_130064894_130149805 | 130083023 | TTTC | T | intron_variant | MODIFIER | HG00408.hp1 HG01099.hp1 HG02080.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0145 a0001c0001t0001g0156 a0001c0001t0001g0166 others(6): Show |
9 | 272 | 0.0331 | -3 | c.105 others(22): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
APLP2_chr11_130064894_130149805 | 130083026 | CTTT | C | intron_variant | MODIFIER | HG00642.hp2 HG01257.hp2 HG01496.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0051 a0001c0001t0001g0052 others(18): Show |
22 | 174 | 0.1264 | -3 | c.105 others(22): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
APLP2_chr11_130064894_130149805 | 130084287 | ATAT | A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00673.hp1 others(51): Show |
a0001a0002a0009others(1): Show | a0001c0001a0002c0002a0009c0011others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(6): Show | a0001c0001t0001g0129 a0001c0001t0001g0144 a0001c0001t0001g0145 others(51): Show |
54 | 272 | 0.1985 | -3 | c.105 others(22): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
APLP2_chr11_130064894_130149805 | 130104206 | CTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00621.hp1 others(48): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0155 others(43): Show |
51 | 132 | 0.3864 | -3 | c.106 others(20): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
APLP2_chr11_130064894_130149805 | 130138753 | ATTT | A | intron_variant | MODIFIER | HG02040.hp2 HG02630.hp2 HG02818.hp2 others(4): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0008 | a0001c0001t0001a0001c0001t0002a0002c0002t0008others(2): Show | a0001c0001t0001g0100 a0001c0001t0002g0191 a0002c0002t0008g0258 others(4): Show |
7 | 120 | 0.0583 | -3 | c.183 others(22): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
APMAP_chr20_24957925_24997751 | 24959885 | ACCT | A | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02723.hp2 HG02896.hp2 others(7): Show |
a0001a0003a0005 | a0001c0018a0003c0005a0005c0006 | a0001c0018t0001a0003c0005t0001a0005c0006t0001 | a0001c0018t0001g0151 a0003c0005t0001g0021 a0003c0005t0001g0046 others(3): Show |
10 | 117 | 0.0855 | -3 | c.*39 others(14): Show |
APMAP | ENSG00000101474.12 | transcript | ENST00000217456.3 | protein_coding | 3039 | chr20 | TogoVar | |||||||
APMAP_chr20_24957925_24997751 | 24964443 | AGGC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(140): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0004a0004c0007others(5): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(73): Show |
143 | 288 | 0.4965 | -3 | c.104 others(20): Show |
APMAP | ENSG00000101474.12 | transcript | ENST00000217456.3 | protein_coding | 8/8 | chr20 | TogoVar | |||||||
APOA1_chr11_116830751_116842622 | 116831241 | CTTT | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01515.hp2 HG01517.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0003c0003t0001g0008 |
7 | 446 | 0.0157 | -3 | c.*45 others(14): Show |
APOA1 | ENSG00000118137.10 | transcript | ENST00000236850.5 | protein_coding | 4509 | chr11 | TogoVar | |||||||
APOA2_chr1_161217292_161228628 | 161220994 | TTTG | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00597.hp1 others(94): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
97 | 241 | 0.4025 | -3 | c.*14 others(14): Show |
APOA2 | ENSG00000158874.11 | transcript | ENST00000367990.7 | protein_coding | 1297 | chr1 | TogoVar | |||||||
APOA2_chr1_161217292_161228628 | 161221660 | CTTT | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01070.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 |
30 | 87 | 0.3448 | -3 | c.*74 others(12): Show |
APOA2 | ENSG00000158874.11 | transcript | ENST00000367990.7 | protein_coding | 631 | chr1 | TogoVar | |||||||
APOA2_chr1_161217292_161228628 | 161225919 | CTTT | C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01346.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 12 | 58 | 0.2069 | -3 | c.-23 others(14): Show |
APOA2 | ENSG00000158874.11 | transcript | ENST00000367990.7 | protein_coding | 2292 | chr1 | TogoVar | |||||||
APOA4_chr11_116815700_116828304 | 116824795 | ATTT | A | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01081.hp1 HG01099.hp2 others(39): Show |
a0001a0003a0010 | a0001c0001a0001c0010a0003c0007others(1): Show | a0001c0001t0001a0001c0010t0001a0003c0007t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0010t0001g0014 others(2): Show |
42 | 328 | 0.1280 | -3 | c.-16 others(14): Show |
APOA4 | ENSG00000110244.7 | transcript | ENST00000357780.5 | protein_coding | 1492 | chr11 | TogoVar | |||||||
APOA5_chr11_116784367_116796879 | 116795558 | AAAC | A | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01255.hp1 HG01346.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0006 | a0001c0001t0004g0004 a0002c0002t0006g0008 |
10 | 474 | 0.0211 | -3 | c.-37 others(14): Show |
APOA5 | ENSG00000110243.12 | transcript | ENST00000227665.9 | protein_coding | 3680 | chr11 | TogoVar | |||||||
APOBEC1_chr12_7644400_7670908 | 7651611 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(103): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0211 a0001c0003t0001g0002 a0001c0003t0001g0004 others(90): Show |
106 | 255 | 0.4157 | -3 | c.443 others(18): Show |
APOBEC1 | ENSG00000111701.7 | transcript | ENST00000229304.5 | protein_coding | 3/4 | chr12 | TogoVar | |||||||
APOBEC1_chr12_7644400_7670908 | 7653489 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(145): Show |
a0001a0002a0005 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(2): Show | a0001c0002t0001g0003 a0001c0002t0001g0011 a0001c0002t0001g0026 others(133): Show |
148 | 285 | 0.5193 | -3 | c.45- others(16): Show |
APOBEC1 | ENSG00000111701.7 | transcript | ENST00000229304.5 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
APOBEC1_chr12_7644400_7670908 | 7664900 | TAAA | T | intron_variant | MODIFIER | HG00558.hp1 HG00741.hp2 HG01192.hp2 others(14): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0070 a0001c0002t0001g0080 a0001c0002t0001g0085 others(14): Show |
17 | 309 | 0.0550 | -3 | c.16+ others(16): Show |
APOBEC1 | ENSG00000111701.7 | transcript | ENST00000229304.5 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
APOBEC1_chr12_7644400_7670908 | 7670754 | CAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00741.hp2 others(18): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0001a0002c0001t0001 | a0001c0002t0001g0070 a0001c0002t0001g0080 a0001c0002t0001g0086 others(17): Show |
21 | 322 | 0.0652 | -3 | c.-48 others(14): Show |
APOBEC1 | ENSG00000111701.7 | transcript | ENST00000229304.5 | protein_coding | 4847 | chr12 | TogoVar | |||||||
APOBEC2_chr6_41048202_41069891 | 41060143 | CTTG | C | intron_variant | MODIFIER | HG02896.hp2 HG02965.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 3 | 358 | 0.0084 | -3 | c.132 others(20): Show |
APOBEC2 | ENSG00000124701.6 | transcript | ENST00000244669.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
APOBEC3A_chr22_38952609_38968184 | 38958868 | TTTC | T | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02615.hp1 others(7): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0009 | 10 | 358 | 0.0279 | -3 | c.30- others(16): Show |
APOBEC3A | ENSG00000128383.14 | transcript | ENST00000249116.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
APOBEC3C_chr22_39009257_39025352 | 39009794 | CCTT | C | upstream_gene_variant | MODIFIER | NA18941.hp1 NA18950.hp2 NA18967.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0001 a0001c0001t0004g0001 |
3 | 458 | 0.0066 | -3 | c.-45 others(14): Show |
APOBEC3C | ENSG00000244509.4 | transcript | ENST00000361441.5 | protein_coding | 4462 | chr22 | TogoVar | |||||||
APOBEC3C_chr22_39009257_39025352 | 39018818 | CAAA | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00642.hp2 others(67): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0003a0001c0001t0008a0001c0001t0013others(10): Show | a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0007 others(40): Show |
70 | 134 | 0.5224 | -3 | c.*45 others(12): Show |
APOBEC3C | ENSG00000244509.4 | transcript | ENST00000361441.5 | protein_coding | 4/4 | 456 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
APOBEC3D_chr22_39016127_39038277 | 39018818 | CAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00642.hp2 others(67): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 others(37): Show |
70 | 134 | 0.5224 | -3 | c.-27 others(14): Show |
APOBEC3D | ENSG00000243811.12 | transcript | ENST00000216099.13 | protein_coding | 2308 | chr22 | TogoVar | |||||||
APOBEC3D_chr22_39016127_39038277 | 39025104 | GCTT | G | disruptive_inframe_deletion | MODERATE | HG00741.hp1 HG01081.hp1 HG01099.hp1 |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0010 | a0004c0004t0001g0173 a0004c0004t0001g0175 a0004c0004t0010g0172 |
3 | 456 | 0.0066 | -3 | c.249 others(10): Show |
p.Phe others(5): Show |
APOBEC3D | ENSG00000243811.12 | transcript | ENST00000216099.13 | protein_coding | 3/7 | 642/2515 | 249/1161 | 83/386 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
APOBEC3D_chr22_39016127_39038277 | 39032589 | CTTT | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(251): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(98): Show |
254 | 367 | 0.6921 | -3 | c.*29 others(12): Show |
APOBEC3D | ENSG00000243811.12 | transcript | ENST00000216099.13 | protein_coding | 7/7 | 293 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
APOBEC3D_chr22_39016127_39038277 | 39032756 | CTAA | C | 3_prime_UTR_variant | MODIFIER | HG01243.hp2 HG01496.hp1 HG02280.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0023a0001c0001t0028others(3): Show | a0001c0001t0008g0010 a0001c0001t0008g0015 a0001c0001t0008g0053 others(10): Show |
13 | 452 | 0.0288 | -3 | c.*44 others(12): Show |
APOBEC3D | ENSG00000243811.12 | transcript | ENST00000216099.13 | protein_coding | 7/7 | 442 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |