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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP3M2_chr8_42148063_42176183 | 42166591 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00621.hp2 others(66): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0003g0002 a0001c0001t0003g0026 a0001c0001t0003g0043 others(26): Show |
69 | 240 | 0.2875 | 8 | c.804 others(23): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AP3S1_chr5_115836935_115919081 | 115842963 | A | AATAGTAG others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01891.hp1 HG02486.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 others(8): Show |
11 | 376 | 0.0293 | 8 | c.69+ others(21): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AP3S1_chr5_115836935_115919081 | 115855019 | A | ATATCTAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0027 others(15): Show |
20 | 258 | 0.0775 | 8 | c.70- others(25): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AP3S1_chr5_115836935_115919081 | 115868947 | A | AAGGGAGG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01978.hp1 HG02083.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0218 a0001c0001t0001g0280 others(3): Show |
7 | 262 | 0.0267 | 8 | c.162 others(25): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89858523 | G | GAGAAAGA others(1): Show |
intron_variant | MODIFIER | HG03831.hp1 NA18522.hp2 NA19056.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0068 a0001c0001t0001g0081 a0001c0001t0003g0139 others(3): Show |
6 | 232 | 0.0259 | 8 | c.345 others(27): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89858523 | G | GAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02055.hp1 HG02258.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(1): Show | a0001c0001t0001g0046 a0001c0001t0003g0113 a0001c0001t0003g0122 others(2): Show |
5 | 231 | 0.0216 | 8 | c.345 others(27): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89894969 | C | CATATATA others(1): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02280.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009a0001c0001t0017others(1): Show | a0001c0001t0007g0005 a0001c0001t0007g0024 a0001c0001t0007g0026 others(6): Show |
10 | 250 | 0.0400 | 8 | c.-10 others(19): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 976 | chr15 | TogoVar | |||||||
AP4B1_chr1_113889194_113909799 | 113897142 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(267): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0007others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(40): Show |
270 | 348 | 0.7759 | 8 | c.130 others(25): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 7/9 | chr1 | TogoVar | |||||||
AP4B1_chr1_113889194_113909799 | 113907204 | G | GTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG01109.hp2 others(32): Show |
a0002a0008 | a0002c0002a0002c0008a0008c0015 | a0002c0002t0002a0002c0002t0003a0002c0002t0006others(2): Show | a0002c0002t0002g0003 a0002c0002t0002g0016 a0002c0002t0002g0018 others(13): Show |
35 | 151 | 0.2318 | 8 | c.-24 others(19): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 2406 | chr1 | TogoVar | |||||||
AP4E1_chr15_50903683_51010895 | 50964955 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01109.hp1 HG01884.hp2 others(18): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0003g0342 a0001c0001t0004g0350 a0001c0001t0004g0351 others(18): Show |
21 | 98 | 0.2143 | 8 | c.185 others(27): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50977708 | T | TTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00609.hp1 others(62): Show |
a0002a0003a0011 | a0002c0003a0003c0004a0011c0009 | a0002c0003t0003a0002c0003t0013a0003c0004t0007others(2): Show | a0002c0003t0003g0126 a0002c0003t0003g0127 a0002c0003t0003g0128 others(61): Show |
65 | 390 | 0.1667 | 8 | c.196 others(27): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50977709 | T | TTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01891.hp2 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0010a0002c0003t0014a0002c0003t0022 | a0002c0003t0010g0032 a0002c0003t0010g0033 a0002c0003t0010g0034 others(3): Show |
6 | 379 | 0.0158 | 8 | c.196 others(27): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31028596 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0016 | a0001c0001t0012g0199 a0001c0001t0016g0197 a0001c0001t0016g0198 |
3 | 192 | 0.0156 | 8 | c.-72 others(25): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31058527 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00738.hp1 HG01069.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0142 a0001c0001t0001g0206 a0001c0001t0003g0247 others(4): Show |
7 | 94 | 0.0745 | 8 | c.-71 others(25): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31096676 | C | CATATATA others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 others(37): Show |
40 | 287 | 0.1394 | 8 | c.*36 others(19): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 227 | chr14 | TogoVar | |||||||
AP5S1_chr20_3815547_3833838 | 3831679 | A | ATTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG02451.hp2 NA18612.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0022 | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0022g0002 |
7 | 235 | 0.0298 | 8 | c.*73 others(19): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 2842 | chr20 | TogoVar | |||||||
AP5Z1_chr7_4770623_4799397 | 4777353 | C | CTTTATTT others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02074.hp1 others(27): Show |
a0001a0006a0010others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0006others(7): Show | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0002t0003g0009 others(14): Show |
30 | 260 | 0.1154 | 8 | c.41+ others(23): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98689495 | T | TGTGTGAG others(1): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02717.hp1 HG02886.hp1 |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0012a0001c0001t0033a0006c0009t0012 | a0001c0001t0012g0203 a0001c0001t0033g0204 a0006c0009t0012g0202 |
3 | 276 | 0.0109 | 8 | c.230 others(27): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98715235 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02723.hp1 HG03195.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0115 a0001c0001t0001g0218 a0001c0001t0001g0226 others(7): Show |
10 | 82 | 0.1220 | 8 | c.295 others(25): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69483135 | T | TCAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00597.hp2 others(109): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0040 others(109): Show |
112 | 208 | 0.5385 | 8 | c.120 others(27): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 2/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69512070 | T | TAATAAAT others(1): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03516.hp1 HG03579.hp2 |
a0002 | a0002c0002 | a0002c0002t0017a0002c0002t0030 | a0002c0002t0017g0205 a0002c0002t0017g0206 a0002c0002t0030g0067 |
3 | 165 | 0.0182 | 8 | c.120 others(27): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 2/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69523477 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0031 | a0001c0001t0002g0098 a0001c0001t0031g0064 |
2 | 152 | 0.0132 | 8 | c.-69 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69530306 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02258.hp2 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0060 a0001c0001t0004g0062 a0001c0001t0004g0063 |
3 | 123 | 0.0244 | 8 | c.-69 others(27): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69600806 | T | TAATAAAT others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01255.hp1 HG01361.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0059 a0001c0001t0003g0087 a0001c0001t0004g0019 others(20): Show |
23 | 196 | 0.1173 | 8 | c.-70 others(27): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69606446 | A | AAACAAGG others(1): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0069 a0001c0001t0008g0072 |
2 | 208 | 0.0096 | 8 | c.-70 others(27): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69636890 | A | AGAAGGAA others(1): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03491.hp2 HG04204.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0002g0030 a0001c0001t0002g0042 a0001c0001t0002g0077 others(3): Show |
6 | 69 | 0.0870 | 8 | c.-70 others(27): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69636922 | G | GGAAAGAA others(1): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02615.hp2 HG04204.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0036a0001c0001t0037 | a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0119 others(3): Show |
6 | 118 | 0.0508 | 8 | c.-70 others(27): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69636922 | G | GGAAGGAA others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02055.hp1 HG02257.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0006a0002c0002t0003 | a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 others(5): Show |
8 | 120 | 0.0667 | 8 | c.-70 others(27): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69658300 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | NA18953.hp2 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 a0001c0001t0001g0191 |
2 | 161 | 0.0124 | 8 | c.-70 others(27): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69658304 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02970.hp2 HG03579.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0020a0002c0002t0030 | a0001c0001t0001g0152 a0001c0001t0020g0068 a0002c0002t0030g0067 |
3 | 108 | 0.0278 | 8 | c.-70 others(27): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA2_chr15_28880974_29123315 | 28897182 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02622.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0144 others(5): Show |
8 | 76 | 0.1053 | 8 | c.-20 others(29): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28901908 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02451.hp1 HG02630.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0012a0001c0001t0039a0002c0002t0003others(4): Show | a0001c0001t0012g0199 a0001c0001t0039g0188 a0002c0002t0003g0204 others(4): Show |
7 | 14 | 0.5000 | 8 | c.-20 others(29): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28969128 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01169.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0002a0001c0001t0028a0002c0002t0003others(1): Show | a0001c0001t0002g0122 a0001c0001t0028g0049 a0002c0002t0003g0143 others(2): Show |
5 | 14 | 0.3571 | 8 | c.-94 others(27): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28987725 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01081.hp2 HG01884.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0012a0002c0002t0003others(2): Show | a0001c0001t0001g0021 a0001c0001t0012g0199 a0002c0002t0003g0103 others(5): Show |
8 | 108 | 0.0741 | 8 | c.-94 others(25): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29039098 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03098.hp1 HG03225.hp1 others(1): Show |
a0002 | a0002c0002a0002c0003a0002c0014 | a0002c0002t0009a0002c0003t0018a0002c0014t0035 | a0002c0002t0009g0111 a0002c0003t0018g0145 a0002c0003t0018g0146 others(1): Show |
4 | 19 | 0.2105 | 8 | c.-40 others(27): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29045069 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG02293.hp2 NA18954.hp1 NA18971.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0027a0002c0002t0002 | a0001c0001t0003g0166 a0001c0001t0027g0011 a0002c0002t0002g0128 |
3 | 138 | 0.0217 | 8 | c.-40 others(25): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29045103 | C | CTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03669.hp2 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0183 a0001c0001t0002g0197 a0001c0001t0005g0009 |
3 | 86 | 0.0349 | 8 | c.-40 others(25): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | chr15 | TogoVar | |||||||
APBA2_chr15_28880974_29123315 | 29055668 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG03195.hp2 NA19002.hp1 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0005a0002c0006t0017 | a0001c0001t0005g0009 a0002c0006t0017g0203 |
2 | 75 | 0.0267 | 8 | c.951 others(23): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29065004 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03540.hp1 |
a0002 | a0002c0004a0002c0016 | a0002c0004t0022a0002c0016t0036 | a0002c0004t0022g0080 a0002c0016t0036g0001 |
2 | 191 | 0.0105 | 8 | c.952 others(25): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29117668 | G | GTGATTGA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01167.hp1 HG01891.hp2 HG03540.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0016 | a0001c0001t0040a0002c0002t0041a0002c0002t0045others(1): Show | a0001c0001t0040g0147 a0002c0002t0041g0119 a0002c0002t0045g0113 others(1): Show |
4 | 100 | 0.0400 | 8 | c.*54 others(17): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 15/15 | 554 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26443532 | C | CTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00609.hp2 others(138): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(138): Show |
141 | 341 | 0.4135 | 8 | c.-1+ others(23): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26472569 | T | TTTCATTC others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00673.hp1 HG00738.hp1 others(72): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0020 others(71): Show |
75 | 167 | 0.4491 | 8 | c.1-1 others(23): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26472934 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp2 others(58): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0014a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0026 others(57): Show |
61 | 355 | 0.1718 | 8 | c.1-1 others(23): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26495663 | G | GCCTTCAC others(1): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02109.hp2 HG02145.hp1 others(20): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0014a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(9): Show | a0001c0001t0001g0009 a0001c0001t0001g0103 a0001c0001t0001g0111 others(20): Show |
23 | 356 | 0.0646 | 8 | c.73- others(21): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26510734 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01884.hp2 HG02257.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(4): Show | a0001c0001t0001g0087 a0001c0001t0001g0106 a0001c0001t0003g0310 others(7): Show |
10 | 189 | 0.0529 | 8 | c.532 others(23): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26510734 | T | TCTCTCTC others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 NA18981.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0051 a0001c0001t0001g0083 |
3 | 182 | 0.0165 | 8 | c.532 others(25): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26524955 | C | CTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02717.hp2 HG02818.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0001others(1): Show | a0001c0001t0002g0278 a0001c0001t0004g0151 a0002c0002t0001g0161 others(3): Show |
6 | 122 | 0.0492 | 8 | c.814 others(25): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26558140 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00597.hp2 others(58): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0014a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0006others(7): Show | a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0020 others(58): Show |
61 | 118 | 0.5169 | 8 | c.115 others(27): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40832011 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03453.hp1 NA19056.hp1 |
a0001a0002 | a0001c0003a0002c0001a0002c0005 | a0001c0003t0032a0002c0001t0008a0002c0005t0008 | a0001c0003t0032g0008 a0002c0001t0008g0079 a0002c0005t0008g0127 |
3 | 185 | 0.0162 | 8 | c.153 others(27): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40832013 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01258.hp1 HG02723.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0005 | a0001c0002t0002a0001c0002t0048a0002c0001t0029others(1): Show | a0001c0002t0002g0175 a0001c0002t0048g0067 a0002c0001t0029g0002 others(1): Show |
4 | 69 | 0.0580 | 8 | c.153 others(27): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar |