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 | 82664387 | CTCCTCA | C | disruptive_inframe_deletion | MODERATE | HG00438.hp2 NA18944.hp2 NA18954.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0022 a0002c0003t0001g0087 a0002c0003t0001g0088 others(3): Show |
6 | 366 | 0.0164 | -6 | c.223 others(15): Show |
p.Asp others(13): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 19/27 | 2409/3754 | 2235/3306 | 745/1101 | chr15 | TogoVar | |||
AP3B2_chr15_82654281_82714875 | 82665376 | AACACAC | A | intron_variant | MODIFIER | HG00408.hp1 HG01891.hp1 HG01975.hp2 others(9): Show |
a0001 | a0001c0001a0001c0005a0001c0011 | a0001c0001t0001a0001c0005t0001a0001c0011t0005 | a0001c0001t0001g0161 a0001c0001t0001g0172 a0001c0001t0001g0199 others(9): Show |
12 | 39 | 0.3077 | -6 | c.197 others(21): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 16/26 | chr15 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82699641 | GCTGGCT | G | intron_variant | MODIFIER | HG01496.hp1 HG02257.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0166 a0001c0001t0001g0167 others(4): Show |
7 | 366 | 0.0191 | -6 | c.113 others(23): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 1/26 | chr15 | TogoVar | |||||||
AP3M1_chr10_74115255_74155828 | 74126970 | CAAAAAA | C | intron_variant | MODIFIER | HG02004.hp2 HG02055.hp1 HG02135.hp2 others(5): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0006a0001c0007t0022 | a0001c0001t0003g0233 a0001c0001t0003g0238 a0001c0001t0003g0241 others(5): Show |
8 | 84 | 0.0952 | -6 | c.804 others(21): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 6/8 | chr10 | TogoVar | |||||||
AP3M1_chr10_74115255_74155828 | 74128120 | AAAAAGG | A | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG00735.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014a0001c0001t0021others(1): Show | a0001c0001t0003g0008 a0001c0001t0003g0012 a0001c0001t0003g0013 others(33): Show |
47 | 332 | 0.1416 | -6 | c.803 others(21): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 6/8 | chr10 | TogoVar | |||||||
AP3S1_chr5_115836935_115919081 | 115845836 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(91): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(77): Show |
94 | 162 | 0.5802 | -6 | 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 | 115851983 | GAGATTA | G | intron_variant | MODIFIER | HG00735.hp1 HG01358.hp1 HG01496.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0195 a0001c0001t0001g0208 a0001c0001t0001g0209 others(12): Show |
15 | 376 | 0.0399 | -6 | c.69+ others(21): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89844279 | CTCTCTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00733.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0046 others(5): Show |
9 | 310 | 0.0290 | -6 | c.346 others(23): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89854894 | TGGGGGG | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(156): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 others(144): Show |
159 | 293 | 0.5427 | -6 | c.345 others(25): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89866979 | CCCCTCT | C | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01106.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0003g0143 others(17): Show |
22 | 309 | 0.0712 | -6 | c.345 others(23): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP4B1_chr1_113889194_113909799 | 113907204 | GTTTTTT | G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00438.hp1 others(143): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(22): Show |
146 | 262 | 0.5573 | -6 | c.-24 others(17): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 2406 | chr1 | TogoVar | |||||||
AP4E1_chr15_50903683_51010895 | 50912657 | ATTTTTT | A | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02965.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0002 a0001c0001t0001g0208 a0001c0001t0001g0209 others(2): Show |
6 | 222 | 0.0270 | -6 | c.222 others(21): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50964955 | CCACACA | C | intron_variant | MODIFIER | HG00140.hp2 HG01099.hp2 HG01978.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 a0001c0001t0001g0344 a0001c0001t0001g0345 others(1): Show |
4 | 81 | 0.0494 | -6 | c.185 others(25): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31032071 | CAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(150): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(149): Show |
153 | 297 | 0.5152 | -6 | c.-72 others(23): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31049428 | AATATAT | A | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG00621.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 others(29): Show |
32 | 210 | 0.1524 | -6 | 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 | 31049467 | ATATATG | A | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01952.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0320 a0001c0001t0002g0001 a0001c0001t0002g0163 others(7): Show |
11 | 342 | 0.0322 | -6 | 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 | 31049474 | TACACAC | T | intron_variant | MODIFIER | HG02074.hp2 NA18971.hp2 NA18989.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0271 a0001c0001t0010g0272 a0001c0001t0010g0273 others(2): Show |
5 | 81 | 0.0617 | -6 | 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 | 31058527 | ATGTGTG | A | intron_variant | MODIFIER | HG00544.hp2 HG01243.hp2 HG01346.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0289 others(6): Show |
9 | 96 | 0.0938 | -6 | c.-71 others(23): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP5M1_chr14_57263971_57303742 | 57275420 | GGAGAGA | G | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp1 HG02559.hp1 others(8): Show |
a0003 | a0003c0004 | a0003c0004t0004a0003c0004t0011a0003c0004t0022others(1): Show | a0003c0004t0004g0008 a0003c0004t0004g0019 a0003c0004t0004g0101 others(4): Show |
11 | 273 | 0.0403 | -6 | c.720 others(21): Show |
AP5M1 | ENSG00000053770.12 | transcript | ENST00000261558.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP5M1_chr14_57263971_57303742 | 57286996 | TACACAC | T | intron_variant | MODIFIER | HG00609.hp2 HG00642.hp1 HG00733.hp1 others(63): Show |
a0001a0002a0006others(1): Show | a0001c0002a0001c0009a0001c0011others(3): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(12): Show | a0001c0002t0002g0003 a0001c0002t0002g0005 a0001c0002t0002g0009 others(35): Show |
66 | 231 | 0.2857 | -6 | c.139 others(23): Show |
AP5M1 | ENSG00000053770.12 | transcript | ENST00000261558.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP5S1_chr20_3815547_3833838 | 3821878 | CTTTTTT | C | intron_variant | MODIFIER | HG02486.hp1 HG02486.hp2 HG02818.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0018a0001c0001t0028others(2): Show | a0001c0001t0013g0011 a0001c0001t0018g0008 a0001c0001t0028g0008 others(2): Show |
8 | 384 | 0.0208 | -6 | c.-16 others(21): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
AP5Z1_chr7_4770623_4799397 | 4776562 | CAAAAAA | C | intron_variant | MODIFIER | HG01071.hp1 HG01109.hp1 HG01243.hp1 others(34): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0025others(3): Show | a0001c0001t0002a0001c0001t0006a0001c0002t0002others(8): Show | a0001c0001t0002g0010 a0001c0001t0006g0010 a0001c0002t0002g0008 others(14): Show |
37 | 235 | 0.1574 | -6 | c.41+ others(19): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98653656 | CAAAAAA | C | intron_variant | MODIFIER | HG02293.hp1 HG02922.hp1 NA18946.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0003g0007 a0001c0001t0006g0137 a0001c0001t0006g0212 others(3): Show |
7 | 235 | 0.0298 | -6 | c.526 others(23): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98689435 | TGAGAGA | T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(54): Show |
a0001a0005 | a0001c0001a0001c0013a0005c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0011 a0001c0001t0002g0199 a0001c0001t0002g0211 others(54): Show |
57 | 96 | 0.5938 | -6 | c.230 others(25): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98715235 | CATATAT | C | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00741.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0001g0033 others(23): Show |
26 | 98 | 0.2653 | -6 | c.295 others(23): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69501629 | AACACAC | A | intron_variant | MODIFIER | HG02040.hp2 HG02155.hp1 HG02486.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(5): Show | a0001c0001t0001g0190 a0001c0001t0002g0042 a0001c0001t0002g0076 others(6): Show |
9 | 43 | 0.2093 | -6 | c.120 others(27): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 2/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69530306 | GTATATA | G | intron_variant | MODIFIER | HG00597.hp2 HG01074.hp1 HG01074.hp2 others(37): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0008a0001c0001t0014others(2): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0058 others(37): Show |
40 | 160 | 0.2500 | -6 | c.-69 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69530329 | TACACAC | T | intron_variant | MODIFIER | HG01255.hp1 HG02895.hp2 HG02897.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0002c0002t0003 | a0001c0001t0002g0079 a0001c0001t0007g0044 a0001c0001t0007g0046 others(10): Show |
13 | 99 | 0.1313 | -6 | c.-69 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69569448 | AGTGTGT | A | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG01070.hp1 others(76): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(17): Show | a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0001g0075 others(76): Show |
79 | 88 | 0.8977 | -6 | c.-69 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69636826 | AGAGAGG | A | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01070.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0130 others(13): Show |
16 | 190 | 0.0842 | -6 | c.-70 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69658276 | CTTTCTT | C | intron_variant | MODIFIER | HG02922.hp2 HG02976.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0007 | a0001c0001t0005g0056 a0002c0002t0007g0039 |
2 | 201 | 0.0100 | -6 | c.-70 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69658288 | CTCTCTT | C | intron_variant | MODIFIER | HG02615.hp1 HG02886.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0098 |
3 | 201 | 0.0149 | -6 | c.-70 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69658302 | CTCTCTT | C | intron_variant | MODIFIER | HG03098.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0092 a0001c0001t0006g0093 |
2 | 207 | 0.0097 | -6 | c.-70 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69658310 | CTTTCTT | C | intron_variant | MODIFIER | HG02886.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 a0001c0001t0002g0095 |
2 | 207 | 0.0097 | -6 | c.-70 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA2_chr15_28880974_29123315 | 28927344 | TTTTTTG | T | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG00738.hp2 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0009a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0057 others(37): Show |
40 | 202 | 0.1980 | -6 | c.-95 others(23): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29039098 | GGTGTGT | G | intron_variant | MODIFIER | HG00738.hp1 HG01071.hp2 HG01258.hp1 others(40): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0063 others(40): Show |
43 | 58 | 0.7414 | -6 | 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 | 29074767 | TTAAGTA | T | intron_variant | MODIFIER | HG02622.hp2 HG02717.hp1 HG02895.hp1 others(2): Show |
a0002 | a0002c0002a0002c0003a0002c0014 | a0002c0002t0006a0002c0002t0008a0002c0002t0011others(2): Show | a0002c0002t0006g0178 a0002c0002t0008g0198 a0002c0002t0011g0110 others(2): Show |
5 | 202 | 0.0248 | -6 | c.952 others(21): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26481826 | CGTGTGT | C | intron_variant | MODIFIER | HG00673.hp2 HG01069.hp1 HG01071.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0059 a0001c0001t0001g0060 others(4): Show |
7 | 111 | 0.0631 | -6 | c.1-1 others(21): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1_chr11_6390125_6424094 | 6390705 | TGCTGGC | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00639.hp1 others(106): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 others(92): Show |
109 | 156 | 0.6987 | -6 | c.*48 others(17): Show |
APBB1 | ENSG00000166313.20 | transcript | ENST00000609360.6 | protein_coding | 4419 | chr11 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40838136 | CATTATT | C | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01109.hp2 others(12): Show |
a0001a0002a0003 | a0001c0003a0002c0001a0002c0005others(1): Show | a0001c0003t0001a0001c0003t0058a0002c0001t0001others(8): Show | a0001c0003t0001g0038 a0001c0003t0058g0089 a0002c0001t0001g0059 others(12): Show |
15 | 77 | 0.1948 | -6 | c.153 others(25): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40846015 | GGTGTGT | G | intron_variant | MODIFIER | HG02630.hp2 HG02965.hp1 HG02976.hp2 others(4): Show |
a0001a0002 | a0001c0003a0002c0001a0002c0005 | a0001c0003t0005a0001c0003t0006a0002c0001t0005others(1): Show | a0001c0003t0005g0131 a0001c0003t0006g0134 a0002c0001t0005g0152 others(4): Show |
7 | 15 | 0.4667 | -6 | c.153 others(27): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40854790 | CAAAAAA | C | intron_variant | MODIFIER | HG00544.hp1 HG00733.hp2 HG01099.hp2 others(40): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0014others(17): Show | a0001c0002t0001g0039 a0001c0002t0001g0070 a0001c0002t0001g0101 others(40): Show |
43 | 85 | 0.5059 | -6 | c.153 others(27): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40901909 | ATGTGTG | A | intron_variant | MODIFIER | HG02258.hp2 HG02622.hp2 HG02818.hp2 others(4): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0001 | a0001c0003t0009a0001c0003t0035a0001c0004t0051others(4): Show | a0001c0003t0009g0162 a0001c0003t0035g0026 a0001c0004t0051g0141 others(4): Show |
7 | 80 | 0.0875 | -6 | c.125 others(25): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40930420 | AGTGTGT | A | intron_variant | MODIFIER | HG01981.hp2 HG02630.hp1 HG02647.hp1 others(1): Show |
a0001a0002 | a0001c0003a0002c0001a0002c0005 | a0001c0003t0001a0001c0003t0014a0002c0001t0014others(1): Show | a0001c0003t0001g0053 a0001c0003t0014g0068 a0002c0001t0014g0128 others(1): Show |
4 | 161 | 0.0248 | -6 | c.125 others(25): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40930444 | TGTGTGC | T | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp2 HG02559.hp2 others(4): Show |
a0001a0002a0004 | a0001c0002a0001c0004a0002c0001others(1): Show | a0001c0002t0001a0001c0004t0009a0001c0004t0019others(4): Show | a0001c0002t0001g0173 a0001c0004t0009g0114 a0001c0004t0019g0073 others(4): Show |
7 | 178 | 0.0393 | -6 | c.125 others(25): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40930446 | TGTGCGC | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00597.hp2 others(19): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0001others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(15): Show | a0001c0003t0001g0054 a0001c0003t0002g0096 a0001c0003t0004g0139 others(19): Show |
22 | 165 | 0.1333 | -6 | c.125 others(25): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40930448 | TGCGCGC | T | intron_variant | MODIFIER | HG02922.hp1 HG03098.hp1 HG03098.hp2 |
a0001a0002 | a0001c0004a0002c0005a0002c0008 | a0001c0004t0005a0002c0005t0028a0002c0008t0046 | a0001c0004t0005g0163 a0002c0005t0028g0012 a0002c0008t0046g0090 |
3 | 156 | 0.0192 | -6 | c.125 others(25): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40930462 | CGCGCGT | C | intron_variant | MODIFIER | HG02622.hp1 HG02622.hp2 HG02630.hp1 others(6): Show |
a0001a0002 | a0001c0004a0002c0001a0002c0005others(1): Show | a0001c0004t0005a0001c0004t0051a0002c0001t0003others(5): Show | a0001c0004t0005g0163 a0001c0004t0051g0141 a0002c0001t0003g0151 others(6): Show |
9 | 178 | 0.0506 | -6 | c.125 others(25): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40961667 | TAAAAAA | T | intron_variant | MODIFIER | HG00438.hp2 HG01099.hp2 HG01192.hp2 others(21): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0004a0001c0003t0001a0001c0003t0007others(19): Show | a0001c0002t0004g0028 a0001c0003t0001g0159 a0001c0003t0001g0164 others(21): Show |
24 | 26 | 0.9231 | -6 | c.836 others(25): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 41000069 | ATGTGTG | A | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00597.hp2 others(22): Show |
a0001a0002 | a0001c0003a0002c0001a0002c0005 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(13): Show | a0001c0003t0001g0029 a0001c0003t0001g0043 a0001c0003t0001g0050 others(22): Show |
25 | 91 | 0.2747 | -6 | c.835 others(25): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar |