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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP4E1_chr15_50903683_51010895 | 50934070 | TAC | T | intron_variant | MODIFIER | HG01261.hp2 NA19001.hp2 NA19054.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 a0001c0001t0001g0265 a0001c0001t0001g0267 others(2): Show |
5 | 392 | 0.0128 | -2 | c.870 others(17): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 7/20 | chr15 | TogoVar | |||||||
AP4E1_chr15_50903683_51010895 | 50947415 | CAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00621.hp2 others(76): Show |
a0002a0003a0011 | a0002c0002a0002c0003a0003c0004others(1): Show | a0002c0002t0002a0002c0003t0003a0002c0003t0010others(7): Show | a0002c0002t0002g0043 a0002c0002t0002g0069 a0002c0002t0002g0108 others(75): Show |
79 | 392 | 0.2015 | -2 | c.117 others(19): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50948339 | CTT | C | intron_variant | MODIFIER | HG01167.hp2 HG01168.hp1 HG01169.hp1 others(14): Show |
a0002a0003 | a0002c0002a0002c0003a0002c0006others(1): Show | a0002c0002t0002a0002c0003t0003a0002c0003t0010others(5): Show | a0002c0002t0002g0015 a0002c0003t0003g0137 a0002c0003t0003g0170 others(14): Show |
17 | 392 | 0.0434 | -2 | c.131 others(19): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50962889 | CAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00609.hp1 others(44): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0002a0002c0003t0003a0002c0003t0013 | a0002c0002t0002g0016 a0002c0003t0003g0126 a0002c0003t0003g0127 others(43): Show |
47 | 392 | 0.1199 | -2 | c.185 others(21): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50963181 | CAG | C | intron_variant | MODIFIER | HG01109.hp1 HG01255.hp1 HG01496.hp1 others(20): Show |
a0001a0007a0008 | a0001c0001a0007c0011a0008c0013 | a0001c0001t0005a0001c0001t0009a0001c0001t0029others(2): Show | a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0305 others(20): Show |
23 | 392 | 0.0587 | -2 | c.185 others(21): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50966531 | CTT | C | intron_variant | MODIFIER | HG02922.hp2 NA18747.hp2 NA18946.hp2 others(5): Show |
a0002a0003a0009 | a0002c0002a0002c0003a0003c0004others(1): Show | a0002c0002t0002a0002c0003t0003a0003c0004t0007others(1): Show | a0002c0002t0002g0065 a0002c0002t0002g0070 a0002c0002t0002g0099 others(5): Show |
8 | 392 | 0.0204 | -2 | c.185 others(21): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50975552 | CTG | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00609.hp1 others(73): Show |
a0002a0011 | a0002c0003a0011c0009 | a0002c0003t0003a0002c0003t0010a0002c0003t0013others(4): Show | a0002c0003t0003g0025 a0002c0003t0003g0026 a0002c0003t0003g0027 others(72): Show |
76 | 392 | 0.1939 | -2 | c.196 others(21): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50975956 | CAG | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(175): Show |
a0001a0002a0003others(3): Show | a0001c0010a0002c0002a0002c0003others(4): Show | a0001c0010t0002a0002c0002t0002a0002c0002t0012others(17): Show | a0001c0010t0002g0355 a0002c0002t0002g0009 a0002c0002t0002g0010 others(174): Show |
178 | 392 | 0.4541 | -2 | c.196 others(21): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50979138 | GTA | G | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02922.hp2 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0007a0003c0004t0018 | a0003c0004t0007g0021 a0003c0004t0007g0022 a0003c0004t0007g0023 others(3): Show |
6 | 392 | 0.0153 | -2 | c.196 others(21): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50988407 | TGG | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(189): Show |
a0001a0002a0003others(3): Show | a0001c0010a0002c0002a0002c0003others(4): Show | a0001c0010t0002a0002c0002t0002a0002c0002t0012others(19): Show | a0001c0010t0002g0355 a0002c0002t0002g0009 a0002c0002t0002g0010 others(188): Show |
192 | 392 | 0.4898 | -2 | c.209 others(21): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50991962 | CTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG03195.hp1 others(3): Show |
a0002a0003 | a0002c0003a0002c0006a0003c0004 | a0002c0003t0003a0002c0003t0022a0002c0006t0015others(1): Show | a0002c0003t0003g0148 a0002c0003t0003g0183 a0002c0003t0022g0007 others(3): Show |
6 | 392 | 0.0153 | -2 | c.209 others(21): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50995980 | CTT | C | intron_variant | MODIFIER | HG00621.hp2 HG01167.hp2 HG01168.hp2 others(16): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0005a0002c0002t0002a0002c0003t0003others(4): Show | a0001c0001t0005g0341 a0002c0002t0002g0069 a0002c0003t0003g0025 others(16): Show |
19 | 392 | 0.0485 | -2 | c.234 others(21): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50996155 | ATT | A | intron_variant | MODIFIER | HG00558.hp2 HG01109.hp1 HG01167.hp1 others(34): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0029others(4): Show | a0001c0001t0005g0301 a0001c0001t0005g0302 a0001c0001t0005g0303 others(34): Show |
37 | 392 | 0.0944 | -2 | c.234 others(21): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4M1_chr7_100096643_100114039 | 100098910 | AAC | A | upstream_gene_variant | MODIFIER | HG02451.hp2 HG03130.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0011 |
3 | 416 | 0.0072 | -2 | c.-28 others(13): Show |
AP4M1 | ENSG00000221838.11 | transcript | ENST00000359593.9 | protein_coding | 2732 | chr7 | TogoVar | |||||||
AP4M1_chr7_100096643_100114039 | 100105784 | GAA | G | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02615.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0009 | a0001c0001t0001g0045 a0001c0001t0007g0016 a0001c0001t0007g0053 others(4): Show |
11 | 416 | 0.0264 | -2 | c.930 others(17): Show |
AP4M1 | ENSG00000221838.11 | transcript | ENST00000359593.9 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31028596 | TAC | T | intron_variant | MODIFIER | HG00741.hp2 HG02015.hp2 HG02071.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0048 | a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 others(2): Show |
5 | 346 | 0.0145 | -2 | c.-72 others(19): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31036133 | TTA | T | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG01168.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(2): Show | a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 others(19): Show |
22 | 346 | 0.0636 | -2 | c.-72 others(21): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
AP4S1_chr14_31020649_31101450 | 31049428 | AAT | A | intron_variant | MODIFIER | HG00558.hp1 HG02056.hp2 HG02647.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(4): Show | a0001c0001t0001g0093 a0001c0001t0001g0303 a0001c0001t0001g0306 others(9): Show |
12 | 346 | 0.0347 | -2 | c.-71 others(21): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31049471 | ATG | A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0023 others(47): Show |
50 | 346 | 0.1445 | -2 | c.-71 others(21): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31049474 | TAC | T | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02145.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012a0001c0001t0029others(1): Show | a0001c0001t0005g0241 a0001c0001t0012g0199 a0001c0001t0012g0200 others(3): Show |
6 | 346 | 0.0173 | -2 | c.-71 others(21): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31053589 | CTT | C | intron_variant | MODIFIER | HG00609.hp2 HG01891.hp1 HG02109.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0093 others(22): Show |
25 | 346 | 0.0723 | -2 | c.-71 others(21): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31054867 | CAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(100): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0036 others(99): Show |
103 | 346 | 0.2977 | -2 | c.-71 others(21): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31058525 | GTA | G | intron_variant | MODIFIER | HG00621.hp1 HG01081.hp2 HG02486.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0217 others(7): Show |
10 | 346 | 0.0289 | -2 | c.-71 others(19): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31058527 | ATG | A | intron_variant | MODIFIER | HG00544.hp1 HG02083.hp1 HG02155.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0001g0103 a0001c0001t0001g0124 a0001c0001t0001g0125 others(8): Show |
11 | 346 | 0.0318 | -2 | c.-71 others(19): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31088807 | CAA | C | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0016a0001c0001t0020others(2): Show | a0001c0001t0012g0199 a0001c0001t0012g0200 a0001c0001t0012g0201 others(5): Show |
8 | 346 | 0.0231 | -2 | c.307 others(19): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP5B1_chr11_65768898_65785976 | 65773560 | TTG | T | downstream_gene_variant | MODIFIER | HG01106.hp2 HG02818.hp1 HG02895.hp1 others(6): Show |
a0001 | a0001c0006 | a0001c0006t0005a0001c0006t0029 | a0001c0006t0005g0007 a0001c0006t0029g0038 |
9 | 424 | 0.0212 | -2 | c.*42 others(13): Show |
AP5B1 | ENSG00000254470.3 | transcript | ENST00000532090.3 | protein_coding | 337 | chr11 | TogoVar | |||||||
AP5M1_chr14_57263971_57303742 | 57266705 | TTA | T | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00544.hp2 others(200): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0009others(10): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(45): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0013 others(107): Show |
203 | 280 | 0.7250 | -2 | c.-26 others(13): Show |
AP5M1 | ENSG00000053770.12 | transcript | ENST00000261558.8 | protein_coding | 2265 | chr14 | TogoVar | |||||||
AP5M1_chr14_57263971_57303742 | 57266735 | GTA | G | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00544.hp2 others(176): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0009others(10): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(41): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0013 others(95): Show |
179 | 280 | 0.6393 | -2 | c.-25 others(13): Show |
AP5M1 | ENSG00000053770.12 | transcript | ENST00000261558.8 | protein_coding | 2235 | chr14 | TogoVar | |||||||
AP5M1_chr14_57263971_57303742 | 57286996 | TAC | T | intron_variant | MODIFIER | HG01243.hp2 HG01361.hp2 HG01891.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0001t0032a0001c0002t0002others(7): Show | a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 others(10): Show |
16 | 280 | 0.0571 | -2 | c.139 others(19): Show |
AP5M1 | ENSG00000053770.12 | transcript | ENST00000261558.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP5M1_chr14_57263971_57303742 | 57303026 | TAA | T | downstream_gene_variant | MODIFIER | HG00597.hp2 HG02015.hp1 HG02027.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0019others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0080 others(7): Show |
14 | 280 | 0.0500 | -2 | c.*14 others(15): Show |
AP5M1 | ENSG00000053770.12 | transcript | ENST00000261558.8 | protein_coding | 4285 | chr14 | TogoVar | |||||||
AP5S1_chr20_3815547_3833838 | 3819396 | CAA | C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(51): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0002g0002 a0001c0001t0002g0036 a0001c0001t0004g0002 others(13): Show |
54 | 412 | 0.1311 | -2 | c.-13 others(13): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 1150 | chr20 | TogoVar | |||||||
AP5S1_chr20_3815547_3833838 | 3829086 | CTT | C | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01123.hp1 HG01981.hp2 others(20): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0009a0001c0001t0015others(8): Show | a0001c0001t0001g0001 a0001c0001t0009g0003 a0001c0001t0009g0016 others(11): Show |
23 | 412 | 0.0558 | -2 | c.*47 others(13): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 249 | chr20 | TogoVar | |||||||
AP5S1_chr20_3815547_3833838 | 3829193 | TTC | T | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01123.hp1 HG01981.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0015others(3): Show | a0001c0001t0001g0001 a0001c0001t0009g0003 a0001c0001t0009g0016 others(6): Show |
17 | 412 | 0.0413 | -2 | c.*48 others(13): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 356 | chr20 | TogoVar | |||||||
AP5S1_chr20_3815547_3833838 | 3830903 | ATT | A | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01123.hp1 HG01981.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(7): Show | a0001c0001t0001g0001 a0001c0001t0004g0003 a0001c0001t0008g0003 others(10): Show |
22 | 412 | 0.0534 | -2 | c.*66 others(13): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 2066 | chr20 | TogoVar | |||||||
AP5Z1_chr7_4770623_4799397 | 4770864 | GGT | G | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01123.hp1 others(19): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0027others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0018 others(14): Show |
22 | 340 | 0.0647 | -2 | c.-48 others(13): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 4758 | chr7 | TogoVar | |||||||
AP5Z1_chr7_4770623_4799397 | 4771915 | GAC | G | upstream_gene_variant | MODIFIER | HG02717.hp2 HG02809.hp1 HG02976.hp2 others(4): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0032a0001c0006t0003 | a0001c0002t0032g0083 a0001c0006t0003g0010 a0001c0006t0003g0079 others(1): Show |
7 | 340 | 0.0206 | -2 | c.-38 others(13): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 3707 | chr7 | TogoVar | |||||||
AP5Z1_chr7_4770623_4799397 | 4776562 | CAA | C | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01361.hp2 others(33): Show |
a0001a0002a0004others(3): Show | a0001c0002a0001c0014a0002c0003others(5): Show | a0001c0002t0006a0001c0002t0038a0001c0014t0006others(8): Show | a0001c0002t0006g0011 a0001c0002t0006g0094 a0001c0002t0006g0095 others(19): Show |
36 | 340 | 0.1059 | -2 | c.41+ others(15): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AP5Z1_chr7_4770623_4799397 | 4777166 | GAT | G | intron_variant | MODIFIER | HG00597.hp1 HG01074.hp1 HG01261.hp2 others(27): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0030others(1): Show | a0001c0001t0002a0002c0003t0002a0002c0003t0011others(3): Show | a0001c0001t0002g0055 a0002c0003t0002g0003 a0002c0003t0002g0014 others(17): Show |
30 | 340 | 0.0882 | -2 | c.41+ others(17): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AP5Z1_chr7_4770623_4799397 | 4778759 | TTA | T | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02559.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0025 | a0001c0001t0002a0001c0001t0006a0001c0002t0003others(2): Show | a0001c0001t0002g0009 a0001c0001t0006g0009 a0001c0002t0003g0008 others(3): Show |
10 | 340 | 0.0294 | -2 | c.42- others(17): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AP5Z1_chr7_4770623_4799397 | 4779221 | CAT | C | intron_variant | MODIFIER | HG00738.hp2 HG01071.hp2 HG01123.hp1 others(4): Show |
a0001a0011a0017 | a0001c0001a0011c0013a0017c0023 | a0001c0001t0001a0011c0013t0021a0011c0013t0045others(1): Show | a0001c0001t0001g0021 a0001c0001t0001g0046 a0011c0013t0021g0030 others(2): Show |
7 | 340 | 0.0206 | -2 | c.42- others(17): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AP5Z1_chr7_4770623_4799397 | 4779316 | CAT | C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00741.hp2 others(17): Show |
a0001a0005a0009 | a0001c0001a0005c0008a0009c0010 | a0001c0001t0005a0001c0001t0014a0001c0001t0040others(3): Show | a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0112 others(10): Show |
20 | 340 | 0.0588 | -2 | c.42- others(17): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AP5Z1_chr7_4770623_4799397 | 4779342 | CAT | C | intron_variant | MODIFIER | HG01496.hp2 HG02896.hp1 HG03041.hp2 others(1): Show |
a0001a0014 | a0001c0001a0001c0002a0014c0028 | a0001c0001t0002a0001c0002t0006a0001c0002t0027others(1): Show | a0001c0001t0002g0123 a0001c0002t0006g0095 a0001c0002t0027g0088 others(1): Show |
4 | 340 | 0.0118 | -2 | c.42- others(17): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AP5Z1_chr7_4770623_4799397 | 4779436 | CAT | C | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp1 HG01081.hp2 others(15): Show |
a0001a0004a0005others(2): Show | a0001c0002a0001c0005a0004c0007others(3): Show | a0001c0002t0017a0001c0002t0027a0001c0005t0009others(5): Show | a0001c0002t0017g0024 a0001c0002t0027g0088 a0001c0005t0009g0031 others(10): Show |
18 | 340 | 0.0529 | -2 | c.42- others(17): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AP5Z1_chr7_4770623_4799397 | 4779457 | CAT | C | intron_variant | MODIFIER | HG01891.hp2 HG02886.hp2 HG03041.hp1 |
a0005 | a0005c0008 | a0005c0008t0013 | a0005c0008t0013g0033 a0005c0008t0013g0092 |
3 | 340 | 0.0088 | -2 | c.42- others(17): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AP5Z1_chr7_4770623_4799397 | 4784400 | CAG | C | intron_variant | MODIFIER | HG02109.hp2 NA19000.hp1 NA19012.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0036 | a0001c0001t0001g0100 a0001c0001t0001g0147 a0001c0002t0036g0053 |
3 | 340 | 0.0088 | -2 | c.790 others(15): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 6/16 | chr7 | TogoVar | |||||||
AP5Z1_chr7_4770623_4799397 | 4785760 | CTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02886.hp2 HG03041.hp1 others(3): Show |
a0005a0006a0009 | a0005c0008a0006c0009a0009c0010 | a0005c0008t0013a0006c0009t0001a0009c0010t0023others(1): Show | a0005c0008t0013g0033 a0005c0008t0013g0092 a0006c0009t0001g0134 others(2): Show |
6 | 340 | 0.0177 | -2 | c.113 others(17): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AP5Z1_chr7_4770623_4799397 | 4798137 | CTA | C | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02486.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0025 | a0001c0001t0002a0001c0001t0006a0001c0002t0002others(1): Show | a0001c0001t0002g0009 a0001c0001t0006g0009 a0001c0002t0002g0007 others(1): Show |
5 | 340 | 0.0147 | -2 | c.*67 others(13): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 3741 | chr7 | TogoVar | |||||||
APAF1_chr12_98640290_98740433 | 98650909 | AAT | A | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02486.hp2 others(1): Show |
a0001a0009 | a0001c0001a0009c0007 | a0001c0001t0013a0009c0007t0029 | a0001c0001t0013g0301 a0001c0001t0013g0302 a0001c0001t0013g0303 others(1): Show |
4 | 366 | 0.0109 | -2 | c.526 others(19): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98653656 | CAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG01109.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0001g0207 a0001c0001t0001g0274 a0001c0001t0004g0191 others(4): Show |
7 | 366 | 0.0191 | -2 | c.526 others(19): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98654816 | CTT | C | intron_variant | MODIFIER | HG00642.hp2 HG01069.hp1 HG01071.hp1 others(13): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0013a0001c0001t0019others(4): Show | a0001c0001t0002g0221 a0001c0001t0002g0315 a0001c0001t0002g0316 others(13): Show |
16 | 366 | 0.0437 | -2 | c.527 others(19): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |