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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP3B2_chr15_82654281_82714875 | 82709783 | G | GCCGGT | 5_prime_UTR_variant | MODIFIER | HG02083.hp2 NA18975.hp2 NA18979.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 others(2): Show |
5 | 366 | 0.0137 | 5 | c.-82 others(12): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 1/27 | 78 | chr15 | TogoVar | ||||||
AP3M1_chr10_74115255_74155828 | 74119872 | T | TAAAGA | downstream_gene_variant | MODIFIER | HG01884.hp1 HG03041.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 a0001c0001t0003g0224 a0001c0001t0003g0257 |
4 | 332 | 0.0120 | 5 | c.*39 others(16): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 382 | chr10 | TogoVar | |||||||
AP3M1_chr10_74115255_74155828 | 74137239 | C | CAAACA | intron_variant | MODIFIER | HG01069.hp1 HG02145.hp1 HG02615.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0093 a0001c0001t0008g0094 a0001c0001t0008g0095 others(4): Show |
7 | 274 | 0.0255 | 5 | c.274 others(20): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 2/8 | chr10 | TogoVar | |||||||
AP3M1_chr10_74115255_74155828 | 74137474 | C | CAAGAG | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00673.hp2 others(55): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0003a0001c0001t0006a0001c0001t0014others(4): Show | a0001c0001t0003g0008 a0001c0001t0003g0012 a0001c0001t0003g0013 others(41): Show |
58 | 332 | 0.1747 | 5 | c.273 others(20): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 2/8 | chr10 | TogoVar | |||||||
AP3M2_chr8_42148063_42176183 | 42150870 | G | GTTTTT | upstream_gene_variant | MODIFIER | HG00609.hp2 HG02074.hp1 NA18906.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0009 others(7): Show |
14 | 229 | 0.0611 | 5 | c.-23 others(16): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 2192 | chr8 | TogoVar | |||||||
AP3M2_chr8_42148063_42176183 | 42162943 | C | CAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01074.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0013 | a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0023 others(13): Show |
33 | 183 | 0.1803 | 5 | c.583 others(20): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89854796 | T | TGGGGG | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(42): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0128 others(41): Show |
45 | 159 | 0.2830 | 5 | c.345 others(24): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89856883 | A | AAAAAG | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0277 a0001c0001t0002g0257 a0001c0001t0012g0278 others(3): Show |
6 | 310 | 0.0194 | 5 | c.345 others(24): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP4E1_chr15_50903683_51010895 | 50962017 | A | AAATAC | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(96): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0010a0002c0002others(3): Show | a0001c0001t0003a0001c0010t0002a0002c0002t0002others(10): Show | a0001c0001t0003g0313 a0001c0010t0002g0355 a0002c0002t0002g0009 others(96): Show |
99 | 358 | 0.2765 | 5 | c.185 others(24): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50969512 | A | AATTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(227): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0010a0002c0002others(7): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(25): Show | a0001c0001t0003g0307 a0001c0001t0003g0309 a0001c0001t0003g0310 others(226): Show |
230 | 390 | 0.5897 | 5 | c.196 others(24): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31083496 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG01169.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(1): Show | a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0001t0001g0224 others(7): Show |
10 | 120 | 0.0833 | 5 | c.306 others(22): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP5M1_chr14_57263971_57303742 | 57300718 | A | ATTTTT | downstream_gene_variant | MODIFIER | HG02630.hp2 HG02723.hp2 HG02922.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0007 | a0001c0002t0003g0003 a0001c0002t0003g0006 a0001c0002t0003g0009 others(1): Show |
5 | 10 | 0.5000 | 5 | c.*11 others(18): Show |
AP5M1 | ENSG00000053770.12 | transcript | ENST00000261558.8 | protein_coding | 1977 | chr14 | TogoVar | |||||||
AP5S1_chr20_3815547_3833838 | 3816995 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00642.hp2 HG00735.hp1 others(38): Show |
a0001a0006 | a0001c0001a0006c0004 | a0001c0001t0005a0001c0001t0006a0001c0001t0009others(9): Show | a0001c0001t0005g0003 a0001c0001t0005g0025 a0001c0001t0006g0005 others(14): Show |
41 | 325 | 0.1262 | 5 | c.-37 others(16): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 3551 | chr20 | TogoVar | |||||||
AP5S1_chr20_3815547_3833838 | 3818084 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00738.hp2 HG02027.hp1 HG02055.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0002g0002 a0001c0001t0004g0002 a0001c0001t0004g0003 others(9): Show |
23 | 37 | 0.6216 | 5 | c.-26 others(16): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 2462 | chr20 | TogoVar | |||||||
AP5S1_chr20_3815547_3833838 | 3824931 | C | CAAAAA | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(49): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0002a0001c0001t0016a0001c0001t0017others(6): Show | a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0002g0031 others(8): Show |
52 | 257 | 0.2023 | 5 | c.*64 others(14): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 3/3 | 651 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98640441 | T | TCAAAA | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01952.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0052 others(14): Show |
18 | 194 | 0.0928 | 5 | c.-54 others(16): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4848 | chr12 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69427832 | A | AAATAC | 3_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02970.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0028a0001c0006t0029 | a0001c0001t0028g0137 a0001c0006t0029g0082 |
2 | 208 | 0.0096 | 5 | c.*34 others(16): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 13/13 | 3494 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69658293 | T | TCTCTC | intron_variant | MODIFIER | HG03491.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0027 a0001c0001t0008g0071 |
2 | 207 | 0.0097 | 5 | c.-70 others(24): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA2_chr15_28880974_29123315 | 29056606 | C | CTTCCT | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(3): Show |
a0002 | a0002c0002a0002c0003a0002c0006 | a0002c0002t0011a0002c0003t0013a0002c0006t0016others(1): Show | a0002c0002t0011g0123 a0002c0003t0013g0081 a0002c0006t0016g0099 others(3): Show |
6 | 198 | 0.0303 | 5 | c.951 others(22): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29056610 | C | CTCCCT | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00597.hp1 others(67): Show |
a0001a0002a0004 | a0001c0001a0001c0009a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0014 others(67): Show |
70 | 80 | 0.8750 | 5 | c.951 others(22): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29109946 | T | TCTGTC | intron_variant | MODIFIER | HG01255.hp1 HG01891.hp2 HG02145.hp1 others(13): Show |
a0001a0002a0005 | a0001c0001a0001c0013a0002c0002others(5): Show | a0001c0001t0002a0001c0013t0009a0002c0002t0003others(9): Show | a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0013t0009g0127 others(13): Show |
16 | 202 | 0.0792 | 5 | c.203 others(24): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26438484 | T | TTAAAA | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02809.hp1 others(10): Show |
a0001a0002a0010 | a0001c0001a0001c0014a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0008a0001c0014t0006others(3): Show | a0001c0001t0002g0337 a0001c0001t0002g0339 a0001c0001t0002g0340 others(10): Show |
13 | 100 | 0.1300 | 5 | c.-20 others(20): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26445128 | A | AAAAAG | intron_variant | MODIFIER | HG01243.hp1 HG02165.hp1 NA18948.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0171 others(3): Show |
6 | 181 | 0.0331 | 5 | c.-1+ others(20): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26456737 | T | TAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG01175.hp1 HG01358.hp2 others(25): Show |
a0001a0002a0004 | a0001c0001a0002c0006a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0086 a0001c0001t0001g0117 others(25): Show |
28 | 42 | 0.6667 | 5 | c.-1+ others(22): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26476446 | C | CAAAAA | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG00735.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0032 others(48): Show |
51 | 101 | 0.5050 | 5 | c.1-1 others(20): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26476466 | G | GAAGAA | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02055.hp2 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0192 a0001c0001t0002g0278 a0002c0002t0001g0143 others(3): Show |
6 | 337 | 0.0178 | 5 | c.1-1 others(20): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26484295 | G | GTTTGT | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02055.hp2 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0192 a0001c0001t0002g0278 a0001c0001t0003g0303 others(4): Show |
7 | 335 | 0.0209 | 5 | c.1-8 others(18): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26516543 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00741.hp1 others(24): Show |
a0001a0002a0006 | a0001c0001a0002c0006a0006c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0071 a0001c0001t0001g0118 others(24): Show |
27 | 52 | 0.5192 | 5 | c.813 others(22): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40846326 | C | CAAAAA | intron_variant | MODIFIER | HG02976.hp2 HG03130.hp1 HG03486.hp2 others(2): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0001 | a0001c0003t0005a0001c0003t0006a0001c0003t0009others(2): Show | a0001c0003t0005g0131 a0001c0003t0006g0134 a0001c0003t0009g0162 others(2): Show |
5 | 83 | 0.0602 | 5 | c.153 others(26): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40851739 | T | TATATA | intron_variant | MODIFIER | HG00438.hp2 NA18983.hp1 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0049 | a0001c0002t0004g0028 a0001c0002t0049g0097 |
2 | 159 | 0.0126 | 5 | c.153 others(26): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40863891 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00735.hp1 others(11): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0001 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(8): Show | a0001c0002t0001g0099 a0001c0002t0001g0137 a0001c0002t0003g0174 others(11): Show |
14 | 112 | 0.1250 | 5 | c.152 others(26): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40864256 | A | AAAAAC | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02109.hp2 others(3): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0048a0001c0002t0049a0001c0003t0011others(2): Show | a0001c0002t0048g0067 a0001c0002t0049g0097 a0001c0003t0011g0015 others(3): Show |
6 | 123 | 0.0488 | 5 | c.152 others(26): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40903228 | A | AGCTGG | intron_variant | MODIFIER | HG00735.hp1 HG01071.hp2 HG01099.hp2 others(26): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0021others(19): Show | a0001c0002t0001g0137 a0001c0002t0001g0173 a0001c0002t0002g0104 others(26): Show |
29 | 190 | 0.1526 | 5 | c.125 others(24): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40928428 | A | ACACAC | intron_variant | MODIFIER | HG02970.hp1 HG04204.hp1 NA19065.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0001c0002t0002a0002c0001t0031 | a0001c0002t0001g0099 a0001c0002t0002g0061 a0002c0001t0031g0017 |
3 | 147 | 0.0204 | 5 | c.125 others(24): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40932881 | C | CGTTTT | intron_variant | MODIFIER | HG02451.hp2 HG02647.hp2 HG02886.hp2 others(8): Show |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0006a0002c0001t0001a0002c0001t0003others(7): Show | a0001c0004t0006g0160 a0002c0001t0001g0075 a0002c0001t0001g0148 others(8): Show |
11 | 190 | 0.0579 | 5 | c.125 others(24): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40946460 | A | ATACGT | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG00733.hp1 others(22): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0022others(16): Show | a0001c0002t0002g0098 a0001c0002t0004g0028 a0001c0002t0022g0031 others(22): Show |
25 | 162 | 0.1543 | 5 | c.836 others(22): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40946460 | A | ATATGT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(25): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(15): Show | a0001c0002t0001g0101 a0001c0002t0002g0061 a0001c0002t0002g0104 others(25): Show |
28 | 165 | 0.1697 | 5 | c.836 others(22): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 41194665 | A | AAAAAT | intron_variant | MODIFIER | HG01255.hp2 HG02451.hp2 HG02622.hp2 others(6): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0001others(1): Show | a0001c0003t0001a0001c0004t0004a0001c0004t0006others(6): Show | a0001c0003t0001g0159 a0001c0004t0004g0144 a0001c0004t0006g0160 others(6): Show |
9 | 190 | 0.0474 | 5 | c.-41 others(26): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
APC2_chr19_1445121_1478244 | 1462655 | C | CAAAAA | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02615.hp2 others(13): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0009others(2): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0044others(3): Show | a0001c0001t0001g0259 a0001c0001t0001g0261 a0002c0002t0002g0027 others(12): Show |
16 | 242 | 0.0661 | 5 | c.185 others(22): Show |
APC2 | ENSG00000115266.12 | transcript | ENST00000590469.6 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
APCDD1L_chr20_58454101_58520399 | 58469348 | C | CAGACA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(266): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0009a0001c0011others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(86): Show | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0136 others(259): Show |
269 | 374 | 0.7193 | 5 | c.188 others(22): Show |
APCDD1L | ENSG00000198768.11 | transcript | ENST00000371149.8 | protein_coding | 2/3 | chr20 | TogoVar | |||||||
APCDD1L_chr20_58454101_58520399 | 58486854 | G | GTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(134): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0011a0001c0017others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0009 a0001c0001t0001g0144 a0001c0001t0001g0150 others(130): Show |
137 | 223 | 0.6144 | 5 | c.50- others(22): Show |
APCDD1L | ENSG00000198768.11 | transcript | ENST00000371149.8 | protein_coding | 1/3 | chr20 | TogoVar | |||||||
APC_chr5_112732885_112851239 | 112836165 | T | TCCCCC | intron_variant | MODIFIER | HG01884.hp2 HG02155.hp2 HG02258.hp2 others(10): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0004a0001c0003t0002 | a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0025 others(10): Show |
13 | 99 | 0.1313 | 5 | c.195 others(24): Show |
APC | ENSG00000134982.18 | transcript | ENST00000257430.9 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
APC_chr5_112732885_112851239 | 112836165 | T | TTCCCC | intron_variant | MODIFIER | HG01358.hp2 NA19009.hp1 NA19070.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 a0001c0001t0001g0223 a0001c0001t0001g0257 others(1): Show |
4 | 90 | 0.0444 | 5 | c.195 others(24): Show |
APC | ENSG00000134982.18 | transcript | ENST00000257430.9 | protein_coding | 15/15 | chr5 | TogoVar | |||||||
APC_chr5_112732885_112851239 | 112846419 | A | AGAGTT | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00609.hp1 others(195): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(25): Show | a0001c0001t0001g0075 a0001c0001t0001g0122 a0001c0001t0001g0194 others(193): Show |
198 | 292 | 0.6781 | 5 | c.*22 others(16): Show |
APC | ENSG00000134982.18 | transcript | ENST00000257430.9 | protein_coding | 181 | chr5 | TogoVar | |||||||
APH1A_chr1_150260404_150274016 | 150260751 | G | GACTTT | downstream_gene_variant | MODIFIER | NA18977.hp2 NA19054.hp1 NA19057.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 176 | 0.0227 | 5 | c.*53 others(16): Show |
APH1A | ENSG00000117362.13 | transcript | ENST00000369109.8 | protein_coding | 4652 | chr1 | TogoVar | |||||||
APH1A_chr1_150260404_150274016 | 150260751 | G | GATTTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp2 others(70): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0018 others(2): Show |
73 | 245 | 0.2980 | 5 | c.*53 others(16): Show |
APH1A | ENSG00000117362.13 | transcript | ENST00000369109.8 | protein_coding | 4652 | chr1 | TogoVar | |||||||
APH1A_chr1_150260404_150274016 | 150267790 | C | CTGGGG | splice_acceptor_variant others(1): Show |
HIGH | HG02451.hp1 HG02572.hp2 HG02622.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0015 |
9 | 438 | 0.0205 | 5 | c.285 others(16): Show |
APH1A | ENSG00000117362.13 | transcript | ENST00000369109.8 | protein_coding | 2/6 | chr1 | TogoVar | |||||||
APLF_chr2_68462585_68585162 | 68481361 | A | AGTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(163): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0009a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0015others(20): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(155): Show |
166 | 171 | 0.9708 | 5 | c.97- others(20): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
APLF_chr2_68462585_68585162 | 68551601 | T | TCCTTC | intron_variant | MODIFIER | HG02055.hp1 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0024 a0002c0002t0008g0026 |
2 | 174 | 0.0115 | 5 | c.128 others(24): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 8/9 | chr2 | TogoVar | |||||||
APLF_chr2_68462585_68585162 | 68551603 | C | CTTCTT | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02486.hp1 others(5): Show |
a0002a0004a0009 | a0002c0002a0004c0004a0009c0008 | a0002c0002t0006a0004c0004t0003a0009c0008t0006 | a0002c0002t0006g0160 a0002c0002t0006g0161 a0002c0002t0006g0162 others(5): Show |
8 | 129 | 0.0620 | 5 | c.128 others(24): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |