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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP3B1_chr5_77997326_78299698 | 78181507 | C | T | splice_region_variant others(1): Show |
LOW | NA18970.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0024 | 1 | 224 | 0.0045 | 0 | c.942 others(3): Show |
p.Ala others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 8/27 | 1061/3980 | 942/3285 | 314/1094 | chr5 | TogoVar | |||
AP3B1_chr5_77997326_78299698 | 78228244 | T | TA | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(82): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 others(82): Show |
85 | 224 | 0.3795 | 1 | c.280 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82677266 | TC | T | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00323.hp1 HG00423.hp1 others(76): Show |
a0001a0005 | a0001c0001a0001c0013a0001c0014others(1): Show | a0001c0001t0001a0001c0013t0001a0001c0014t0001others(1): Show | a0001c0001t0001g0030 a0001c0001t0001g0160 a0001c0001t0001g0169 others(76): Show |
79 | 366 | 0.2158 | -1 | c.148 others(7): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 13/26 | chr15 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82681025 | G | A | splice_region_variant others(1): Show |
LOW | HG02895.hp2 HG03139.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 |
3 | 366 | 0.0082 | 0 | c.589 others(5): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 6/26 | chr15 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82681112 | C | G | splice_region_variant others(1): Show |
LOW | HG03098.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0319 | 1 | 366 | 0.0027 | 0 | c.588 others(3): Show |
p.Thr others(6): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 6/27 | 757/3754 | 588/3306 | 196/1101 | chr15 | TogoVar | |||
AP3B2_chr15_82654281_82714875 | 82689150 | G | T | splice_region_variant others(1): Show |
LOW | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 366 | 0.0027 | 0 | c.264 others(5): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 3/26 | chr15 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2109964 | G | A | splice_region_variant others(1): Show |
LOW | HG02922.hp1 | a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0276 | 1 | 404 | 0.0025 | 0 | c.326 others(6): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 28/31 | chr19 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2111340 | T | C | splice_region_variant others(1): Show |
LOW | HG02257.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0010 | 1 | 403 | 0.0025 | 0 | c.293 others(6): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 25/31 | chr19 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2111340 | T | G | splice_region_variant others(1): Show |
LOW | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0349 | 1 | 403 | 0.0025 | 0 | c.293 others(6): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 25/31 | chr19 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2115423 | G | A | splice_region_variant others(1): Show |
LOW | HG02886.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0192 | 1 | 404 | 0.0025 | 0 | c.215 others(6): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 19/31 | chr19 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2116282 | T | C | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(125): Show |
a0001a0005a0006 | a0001c0003a0001c0004a0001c0005others(8): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0005others(15): Show | a0001c0003t0001g0072 a0001c0003t0001g0192 a0001c0003t0002g0026 others(125): Show |
128 | 404 | 0.3168 | 0 | c.200 others(6): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 17/31 | chr19 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2121317 | C | T | splice_region_variant others(1): Show |
LOW | HG00735.hp1 HG01515.hp2 HG01517.hp1 others(7): Show |
a0002 | a0002c0007 | a0002c0007t0004 | a0002c0007t0004g0385 a0002c0007t0004g0386 a0002c0007t0004g0387 others(7): Show |
10 | 404 | 0.0248 | 0 | c.110 others(6): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 12/31 | chr19 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2121727 | C | T | splice_region_variant others(1): Show |
LOW | HG02145.hp2 HG02559.hp2 NA19030.hp1 |
a0001 | a0001c0008 | a0001c0008t0002a0001c0008t0011 | a0001c0008t0002g0182 a0001c0008t0011g0397 a0001c0008t0011g0398 |
3 | 404 | 0.0074 | 0 | c.110 others(6): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 12/31 | chr19 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2123882 | G | A | splice_region_variant others(1): Show |
LOW | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 404 | 0.0025 | 0 | c.857 others(5): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 9/31 | chr19 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2129161 | G | A | splice_region_variant others(1): Show |
LOW | HG03579.hp1 | a0001 | a0001c0023 | a0001c0023t0005 | a0001c0023t0005g0060 | 1 | 404 | 0.0025 | 0 | c.735 others(3): Show |
p.Phe others(6): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/32 | 967/5065 | 735/3648 | 245/1215 | chr19 | TogoVar | |||
AP3D1_chr19_2095988_2156566 | 2130541 | C | T | splice_region_variant others(1): Show |
LOW | HG03225.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0207 | 1 | 404 | 0.0025 | 0 | c.463 others(5): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 5/31 | chr19 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2138720 | A | G | splice_region_variant others(1): Show |
LOW | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 404 | 0.0025 | 0 | c.97- others(4): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
AP3M2_chr8_42148063_42176183 | 42153111 | G | T | splice_region_variant others(1): Show |
LOW | HG01891.hp1 HG02622.hp1 HG02723.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0027 a0001c0001t0004g0157 |
4 | 390 | 0.0103 | 0 | c.-73 others(5): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
AP3M2_chr8_42148063_42176183 | 42158120 | A | G | splice_region_variant others(1): Show |
LOW | HG02559.hp2 HG02622.hp2 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0028 a0001c0001t0009g0029 a0001c0001t0009g0047 others(1): Show |
6 | 390 | 0.0154 | 0 | c.445 others(5): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
AP3S1_chr5_115836935_115919081 | 115895080 | T | C | splice_region_variant others(1): Show |
LOW | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 376 | 0.0027 | 0 | c.274 others(5): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 3/5 | chr5 | TogoVar | |||||||
AP3S1_chr5_115836935_115919081 | 115913362 | G | A | missense_variant others(1): Show |
MODERATE | HG03130.hp1 NA18906.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0228 a0002c0002t0001g0229 |
2 | 376 | 0.0053 | 0 | c.454 others(3): Show |
p.Ala others(6): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 6/6 | 557/1276 | 454/582 | 152/193 | chr5 | TogoVar | |||
AP4E1_chr15_50903683_51010895 | 50948016 | A | G | splice_region_variant others(1): Show |
LOW | NA19002.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0054 | 1 | 390 | 0.0026 | 0 | c.117 others(6): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 10/20 | chr15 | TogoVar | |||||||
AP4E1_chr15_50903683_51010895 | 50999064 | A | G | splice_region_variant others(1): Show |
LOW | HG01167.hp1 HG02109.hp1 HG02486.hp1 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0186 a0002c0003t0006g0187 a0002c0003t0006g0188 others(4): Show |
7 | 390 | 0.0179 | 0 | c.290 others(6): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 18/20 | chr15 | TogoVar | |||||||
AP5M1_chr14_57263971_57303742 | 57274246 | G | A | missense_variant others(1): Show |
MODERATE | HG03195.hp1 NA18522.hp2 |
a0007 | a0007c0007 | a0007c0007t0002 | a0007c0007t0002g0003 a0007c0007t0002g0004 |
2 | 278 | 0.0072 | 0 | c.77G others(2): Show |
p.Arg others(5): Show |
AP5M1 | ENSG00000053770.12 | transcript | ENST00000261558.8 | protein_coding | 2/8 | 421/11675 | 77/1473 | 26/490 | chr14 | TogoVar | |||
AP5M1_chr14_57263971_57303742 | 57286319 | C | T | missense_variant others(1): Show |
MODERATE | HG02896.hp1 HG02897.hp1 |
a0006 | a0006c0008 | a0006c0008t0003 | a0006c0008t0003g0020 | 2 | 278 | 0.0072 | 0 | c.139 others(4): Show |
p.His others(6): Show |
AP5M1 | ENSG00000053770.12 | transcript | ENST00000261558.8 | protein_coding | 7/8 | 1734/11675 | 1390/1473 | 464/490 | chr14 | TogoVar | |||
AP5Z1_chr7_4770623_4799397 | 4783318 | T | C | splice_region_variant others(1): Show |
LOW | HG03139.hp2 NA18522.hp2 NA20300.hp1 |
a0011a0018 | a0011c0010a0018c0017 | a0011c0010t0023a0011c0010t0025a0018c0017t0024 | a0011c0010t0023g0033 a0011c0010t0025g0033 a0018c0017t0024g0091 |
3 | 338 | 0.0089 | 0 | c.369 others(3): Show |
p.Gly others(6): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 4/17 | 462/5529 | 369/2424 | 123/807 | chr7 | TogoVar | |||
AP5Z1_chr7_4770623_4799397 | 4783682 | A | G | splice_region_variant others(1): Show |
LOW | HG01070.hp2 HG01071.hp1 HG01243.hp1 others(41): Show |
a0001a0003a0005others(4): Show | a0001c0001a0001c0002a0003c0004others(6): Show | a0001c0001t0035a0001c0002t0002a0001c0002t0003others(11): Show | a0001c0001t0035g0150 a0001c0002t0002g0008 a0001c0002t0003g0008 others(21): Show |
44 | 338 | 0.1302 | 0 | c.512 others(5): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 4/16 | chr7 | TogoVar | |||||||
AP5Z1_chr7_4770623_4799397 | 4784903 | C | T | splice_region_variant others(1): Show |
LOW | HG03579.hp2 NA21309.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0031 | a0001c0002t0003g0070 a0001c0002t0031g0058 |
2 | 338 | 0.0059 | 0 | c.791 others(5): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 6/16 | chr7 | TogoVar | |||||||
AP5Z1_chr7_4770623_4799397 | 4785683 | C | T | splice_region_variant others(1): Show |
LOW | HG00597.hp1 HG01074.hp1 HG01261.hp2 others(28): Show |
a0002 | a0002c0003a0002c0030a0002c0033 | a0002c0003t0002a0002c0003t0011a0002c0003t0043others(2): Show | a0002c0003t0002g0004 a0002c0003t0002g0014 a0002c0003t0002g0026 others(17): Show |
31 | 338 | 0.0917 | 0 | c.113 others(4): Show |
p.His others(6): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 9/17 | 1224/5529 | 1131/2424 | 377/807 | chr7 | TogoVar | |||
AP5Z1_chr7_4770623_4799397 | 4788959 | C | T | splice_region_variant others(1): Show |
LOW | HG01358.hp1 | a0008 | a0008c0034 | a0008c0034t0001 | a0008c0034t0001g0126 | 1 | 338 | 0.0030 | 0 | c.170 others(6): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 13/16 | chr7 | TogoVar | |||||||
AP5Z1_chr7_4770623_4799397 | 4789827 | C | T | splice_region_variant others(1): Show |
LOW | HG04115.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0063 | 1 | 338 | 0.0030 | 0 | c.170 others(6): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 13/16 | chr7 | TogoVar | |||||||
APAF1_chr12_98640290_98740433 | 98683140 | T | C | splice_region_variant others(1): Show |
LOW | HG01109.hp1 HG01884.hp2 HG02486.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0013a0005c0007t0029 | a0001c0001t0013g0291 a0001c0001t0013g0292 a0001c0001t0013g0293 others(1): Show |
4 | 364 | 0.0110 | 0 | c.204 others(6): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 14/26 | chr12 | TogoVar | |||||||
APAF1_chr12_98640290_98740433 | 98723619 | G | GT | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00408.hp2 HG00558.hp2 others(66): Show |
a0001a0007a0009 | a0001c0001a0007c0011a0009c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0077 a0001c0001t0001g0113 a0001c0001t0001g0115 others(64): Show |
69 | 309 | 0.2233 | 1 | c.320 others(7): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98723619 | GT | G | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00408.hp1 HG00621.hp2 others(52): Show |
a0001a0003 | a0001c0001a0001c0013a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0056 a0001c0001t0002g0199 a0001c0001t0002g0211 others(52): Show |
55 | 295 | 0.1864 | -1 | c.320 others(7): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69432683 | G | A | splice_region_variant others(1): Show |
LOW | HG00423.hp2 HG00609.hp2 HG01070.hp2 others(53): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0013others(5): Show | a0001c0001t0002g0018 a0001c0001t0002g0030 a0001c0001t0002g0031 others(53): Show |
56 | 208 | 0.2692 | 0 | c.230 others(6): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 11/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69517283 | G | A | splice_region_variant others(1): Show |
LOW | HG00597.hp2 HG00609.hp1 HG00609.hp2 others(82): Show |
a0001a0004 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0040 others(82): Show |
85 | 208 | 0.4087 | 0 | c.-69 others(5): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA3_chr19_3745772_3766692 | 3752508 | G | A | splice_region_variant others(1): Show |
LOW | NA18970.hp1 | a0002 | a0002c0035 | a0002c0035t0001 | a0002c0035t0001g0133 | 1 | 448 | 0.0022 | 0 | c.139 others(4): Show |
p.Arg others(6): Show |
APBA3 | ENSG00000011132.12 | transcript | ENST00000316757.4 | protein_coding | 8/11 | 1589/2176 | 1395/1728 | 465/575 | chr19 | TogoVar | |||
APBA3_chr19_3745772_3766692 | 3752994 | C | T | splice_region_variant others(1): Show |
LOW | NA19058.hp2 | a0026 | a0026c0024 | a0026c0024t0003 | a0026c0024t0003g0181 | 1 | 448 | 0.0022 | 0 | c.101 others(6): Show |
APBA3 | ENSG00000011132.12 | transcript | ENST00000316757.4 | protein_coding | 6/10 | chr19 | TogoVar | |||||||
APBA3_chr19_3745772_3766692 | 3754340 | A | C | missense_variant others(1): Show |
MODERATE | HG01891.hp2 HG02055.hp2 HG02145.hp1 others(14): Show |
a0003a0010a0011others(2): Show | a0003c0006a0003c0017a0003c0021others(4): Show | a0003c0006t0002a0003c0006t0015a0003c0017t0009others(5): Show | a0003c0006t0002g0021 a0003c0006t0002g0083 a0003c0006t0002g0084 others(10): Show |
17 | 448 | 0.0379 | 0 | c.617 others(3): Show |
p.Val others(6): Show |
APBA3 | ENSG00000011132.12 | transcript | ENST00000316757.4 | protein_coding | 4/11 | 811/2176 | 617/1728 | 206/575 | chr19 | TogoVar | |||
APBA3_chr19_3745772_3766692 | 3759557 | T | TTCACCCC others(3): Show |
splice_region_variant others(1): Show |
LOW | NA19058.hp2 | a0026 | a0026c0024 | a0026c0024t0003 | a0026c0024t0003g0181 | 1 | 448 | 0.0022 | 10 | c.616 others(21): Show |
APBA3 | ENSG00000011132.12 | transcript | ENST00000316757.4 | protein_coding | 3/10 | chr19 | TogoVar | |||||||
APBA3_chr19_3745772_3766692 | 3759607 | G | T | splice_region_variant others(1): Show |
LOW | NA19085.hp1 NA19088.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0129 a0001c0004t0001g0130 |
2 | 448 | 0.0045 | 0 | c.577 others(5): Show |
APBA3 | ENSG00000011132.12 | transcript | ENST00000316757.4 | protein_coding | 2/10 | chr19 | TogoVar | |||||||
APBB1IP_chr10_26433341_26572803 | 26438460 | G | GGGAGGGA others(7): Show |
splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(244): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(243): Show |
247 | 356 | 0.6938 | 14 | c.-20 others(27): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26438463 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(244): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(243): Show |
247 | 356 | 0.6938 | 0 | c.-20 others(6): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40934606 | T | G | splice_region_variant others(1): Show |
LOW | NA19009.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0069 | 1 | 190 | 0.0053 | 0 | c.119 others(6): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 9/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40935145 | C | T | splice_region_variant others(1): Show |
LOW | HG03209.hp2 | a0002 | a0002c0001 | a0002c0001t0044 | a0002c0001t0044g0190 | 1 | 190 | 0.0053 | 0 | c.104 others(6): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 7/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 41014404 | G | A | splice_region_variant others(1): Show |
LOW | HG01169.hp1 HG02630.hp2 HG02647.hp1 others(8): Show |
a0002 | a0002c0005 | a0002c0005t0001a0002c0005t0005a0002c0005t0006others(4): Show | a0002c0005t0001g0100 a0002c0005t0001g0142 a0002c0005t0001g0149 others(8): Show |
11 | 190 | 0.0579 | 0 | c.20- others(4): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 5/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 41214399 | G | C | splice_region_variant others(1): Show |
LOW | HG00733.hp1 HG01099.hp1 HG01106.hp2 others(1): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0001 | a0001c0003t0013a0001c0004t0013a0002c0001t0010others(1): Show | a0001c0003t0013g0024 a0001c0004t0013g0022 a0002c0001t0010g0025 others(1): Show |
4 | 190 | 0.0211 | 0 | c.-41 others(6): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
APBB3_chr5_140553268_140569598 | 140560760 | G | A | splice_region_variant others(1): Show |
LOW | HG02615.hp2 HG03195.hp1 HG03471.hp2 |
a0001 | a0001c0002a0001c0012 | a0001c0002t0004a0001c0012t0007 | a0001c0002t0004g0024 a0001c0012t0007g0027 |
3 | 410 | 0.0073 | 0 | c.917 others(5): Show |
APBB3 | ENSG00000113108.20 | transcript | ENST00000357560.9 | protein_coding | 10/12 | chr5 | TogoVar | |||||||
APBB3_chr5_140553268_140569598 | 140561857 | G | A | splice_region_variant others(1): Show |
LOW | HG00597.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0044 | 1 | 410 | 0.0024 | 0 | c.627 others(5): Show |
APBB3 | ENSG00000113108.20 | transcript | ENST00000357560.9 | protein_coding | 6/12 | chr5 | TogoVar | |||||||
APBB3_chr5_140553268_140569598 | 140562656 | T | A | splice_region_variant others(1): Show |
LOW | HG01496.hp2 HG02717.hp2 HG02809.hp1 others(4): Show |
a0001a0003 | a0001c0002a0003c0006 | a0001c0002t0002a0003c0006t0002 | a0001c0002t0002g0053 a0003c0006t0002g0014 a0003c0006t0002g0049 others(1): Show |
7 | 410 | 0.0171 | 0 | c.351 others(5): Show |
APBB3 | ENSG00000113108.20 | transcript | ENST00000357560.9 | protein_coding | 4/12 | chr5 | TogoVar |