| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AP2S1_chr19_46833167_46855846 | 46839286 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG02055.hp2 HG02293.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0040a0001c0001t0001g0067a0001c0001t0001g0145others(8): Show | 12 | 424 | 0.0283 | -12 | c.267 others(27): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
| AP2S1_chr19_46833167_46855846 | 46855092 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | NA18982.hp1 NA18993.hp2 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073a0001c0001t0001g0074a0001c0001t0001g0149 | 3 | 424 | 0.0071 | -12 | c.-43 others(23): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4247 | chr19 | TogoVar | ||||||
| AP3B1_chr5_77997326_78299698 | 78055016 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00735.hp1 others(87): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(87): Show | 90 | 226 | 0.3982 | -12 | c.257 others(33): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | ||||||
| AP3B1_chr5_77997326_78299698 | 78151832 | CTCCCCTC others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(46): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0012a0003c0007others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0012t0001others(3): Show | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(46): Show | 49 | 226 | 0.2168 | -12 | c.147 others(31): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | TogoVar | ||||||
| AP3B1_chr5_77997326_78299698 | 78166117 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(43): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0002others(5): Show | a0001c0001t0001g0042a0001c0001t0001g0082a0001c0001t0001g0126others(43): Show | 46 | 226 | 0.2035 | -12 | c.116 others(29): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | ||||||
| AP3B1_chr5_77997326_78299698 | 78166162 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 226 | 0.0044 | -12 | c.116 others(29): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | ||||||
| AP3B1_chr5_77997326_78299698 | 78202552 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG01934.hp2 HG01981.hp2 HG02451.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0202a0001c0001t0001g0212a0001c0001t0001g0213others(3): Show | 6 | 226 | 0.0266 | -12 | c.786 others(31): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | ||||||
| AP3B1_chr5_77997326_78299698 | 78247282 | GATAATAT others(5): Show |
G | intron_variant | MODIFIER | NA18956.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0090 | 1 | 226 | 0.0044 | -12 | c.205 others(29): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | TogoVar | ||||||
| AP3B2_chr15_82654281_82714875 | 82665376 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG03209.hp2 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162a0001c0001t0001g0304a0001c0001t0001g0321 | 3 | 368 | 0.0082 | -12 | c.197 others(27): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 16/26 | chr15 | TogoVar | ||||||
| AP3D1_chr19_2095988_2156566 | 2102728 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00609.hp2 others(53): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(12): Show | a0001c0001t0001g0119a0001c0001t0001g0131a0001c0001t0001g0139others(53): Show | 56 | 406 | 0.1379 | -12 | c.355 others(29): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 31/31 | chr19 | TogoVar | ||||||
| AP3D1_chr19_2095988_2156566 | 2139059 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0052 | 1 | 406 | 0.0025 | -12 | c.97- others(25): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
| AP3M1_chr10_74115255_74155828 | 74149267 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02622.hp1 HG02818.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0024 | a0001c0003t0004g0195a0001c0003t0004g0196a0001c0003t0004g0197others(1): Show | 4 | 334 | 0.0120 | -12 | c.-4+ others(27): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
| AP3M2_chr8_42148063_42176183 | 42152404 | GGTGGAGA others(5): Show |
G | upstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 392 | 0.0026 | -12 | c.-77 others(21): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 658 | chr8 | TogoVar | ||||||
| AP3S1_chr5_115836935_115919081 | 115845836 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02738.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0198a0001c0001t0001g0199 | 4 | 378 | 0.0106 | -12 | c.69+ others(27): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| AP3S2_chr15_89825599_89898994 | 89844209 | CTCTTTCT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG01071.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0003g0091a0001c0001t0003g0105a0001c0001t0003g0122others(9): Show | 12 | 312 | 0.0385 | -12 | c.346 others(29): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
| AP3S2_chr15_89825599_89898994 | 89844261 | TTCTTTCT others(5): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00735.hp1 HG01081.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0203a0001c0001t0001g0211a0001c0001t0001g0230others(26): Show | 29 | 312 | 0.0930 | -12 | c.346 others(29): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
| AP3S2_chr15_89825599_89898994 | 89858485 | AAGAAAGA others(5): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0003 | a0003c0004 | a0003c0004t0016 | a0003c0004t0016g0304 | 1 | 312 | 0.0032 | -12 | c.345 others(31): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
| AP3S2_chr15_89825599_89898994 | 89859170 | CCTTCCTT others(5): Show |
C | intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 312 | 0.0032 | -12 | c.345 others(31): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
| AP4E1_chr15_50903683_51010895 | 50908713 | GGCCGGGC others(5): Show |
G | 5_prime_UTR_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0304 | 1 | 392 | 0.0026 | -12 | c.-58 others(19): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 1/21 | 47 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||
| AP4E1_chr15_50903683_51010895 | 50919535 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG02109.hp1 HG02257.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0006 | a0001c0001t0001a0001c0001t0004a0002c0003t0006others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0208a0001c0001t0001g0209others(11): Show | 15 | 392 | 0.0383 | -12 | c.346 others(29): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| AP4E1_chr15_50903683_51010895 | 51008016 | TTTTTTTT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0342 | 1 | 392 | 0.0026 | -12 | c.*53 others(23): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 2122 | chr15 | TogoVar | ||||||
| AP4S1_chr14_31020649_31101450 | 31049426 | AAAATATA others(5): Show |
A | intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0275 | 1 | 346 | 0.0029 | -12 | c.-71 others(31): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| AP4S1_chr14_31020649_31101450 | 31049428 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG02074.hp2 NA18971.hp2 NA19057.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0271a0001c0001t0010g0272a0001c0001t0010g0273others(1): Show | 4 | 346 | 0.0116 | -12 | c.-71 others(31): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| AP4S1_chr14_31020649_31101450 | 31049461 | ATGTATAT others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0211 | 1 | 346 | 0.0029 | -12 | c.-71 others(31): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| AP4S1_chr14_31020649_31101450 | 31049464 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0242 | 1 | 346 | 0.0029 | -12 | c.-71 others(31): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| AP4S1_chr14_31020649_31101450 | 31054867 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0090 | 1 | 346 | 0.0029 | -12 | c.-71 others(31): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| AP4S1_chr14_31020649_31101450 | 31058517 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0327a0001c0001t0006g0328 | 2 | 346 | 0.0058 | -12 | c.-71 others(29): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| AP4S1_chr14_31020649_31101450 | 31074324 | CAAATAAA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp2 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(1): Show | a0001c0001t0001g0093a0001c0001t0001g0118a0001c0001t0001g0141others(55): Show | 58 | 346 | 0.1676 | -12 | c.294 others(29): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| AP5B1_chr11_65768898_65785976 | 65769257 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG01346.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 424 | 0.0047 | -12 | c.*85 others(23): Show |
AP5B1 | ENSG00000254470.3 | transcript | ENST00000532090.3 | protein_coding | 4640 | chr11 | TogoVar | ||||||
| AP5M1_chr14_57263971_57303742 | 57300718 | ATTTTTTT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00639.hp2 HG00738.hp1 others(45): Show |
a0001a0005a0008 | a0001c0001a0001c0002a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(28): Show | 48 | 280 | 0.1714 | -12 | c.*11 others(25): Show |
AP5M1 | ENSG00000053770.12 | transcript | ENST00000261558.8 | protein_coding | 1977 | chr14 | TogoVar | ||||||
| AP5Z1_chr7_4770623_4799397 | 4789990 | TCTCCCCT others(5): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01175.hp1 HG01496.hp1 others(10): Show |
a0001a0005a0014 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0049a0001c0002t0017a0001c0005t0009others(3): Show | a0001c0001t0049g0087a0001c0002t0017g0024a0001c0005t0009g0031others(7): Show | 13 | 340 | 0.0382 | -12 | c.180 others(27): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AP5Z1_chr7_4770623_4799397 | 4791165 | CCAGCTCC others(5): Show |
C | conservative_inframe_deletion | MODERATE | HG01070.hp2 HG01071.hp1 HG01243.hp2 others(22): Show |
a0003a0007a0011others(1): Show | a0003c0004a0007c0011a0007c0018others(2): Show | a0003c0004t0004a0003c0004t0007a0007c0011t0007others(4): Show | a0003c0004t0004g0004a0003c0004t0004g0016a0003c0004t0004g0056others(11): Show | 25 | 340 | 0.0735 | -12 | c.220 others(21): Show |
p.Ser others(13): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 17/17 | 2302/5529 | 2209/2424 | 737/807 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| APAF1_chr12_98640290_98740433 | 98653656 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0323 | 1 | 366 | 0.0027 | -12 | c.526 others(29): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| APAF1_chr12_98640290_98740433 | 98653685 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0301a0001c0001t0013g0302 | 2 | 366 | 0.0055 | -12 | c.526 others(29): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| APAF1_chr12_98640290_98740433 | 98715235 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG02083.hp2 HG02135.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0001g0031a0001c0001t0001g0056a0001c0001t0001g0104others(13): Show | 16 | 366 | 0.0437 | -12 | c.295 others(29): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| APBA1_chr9_69422532_69677371 | 69501629 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG01070.hp1 HG01099.hp1 others(50): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0001g0009a0001c0001t0001g0050a0001c0001t0001g0058others(50): Show | 53 | 210 | 0.2524 | -12 | c.120 others(33): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 2/12 | chr9 | TogoVar | ||||||
| APBA1_chr9_69422532_69677371 | 69523485 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02897.hp2 HG03041.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0015a0002c0002t0002others(1): Show | a0001c0001t0006g0088a0001c0001t0015g0054a0002c0002t0002g0023others(2): Show | 5 | 210 | 0.0238 | -12 | c.-69 others(29): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
| APBA1_chr9_69422532_69677371 | 69569448 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG02451.hp1 HG02451.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0007a0001c0001t0015others(2): Show | a0001c0001t0006g0169a0001c0001t0007g0051a0001c0001t0015g0020others(3): Show | 6 | 210 | 0.0286 | -12 | c.-69 others(31): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
| APBA1_chr9_69422532_69677371 | 69606479 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG02451.hp1 HG02897.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0015a0002c0002t0002 | a0001c0001t0001g0064a0001c0001t0015g0020a0001c0001t0015g0054others(1): Show | 4 | 210 | 0.0191 | -12 | c.-70 others(31): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
| APBA1_chr9_69422532_69677371 | 69636820 | AGAGAGAG others(5): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG02055.hp1 HG02257.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0052a0001c0001t0002g0053a0001c0001t0002g0055others(5): Show | 8 | 210 | 0.0381 | -12 | c.-70 others(31): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
| APBA1_chr9_69422532_69677371 | 69636824 | AGAGAGAG others(5): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG02040.hp2 HG02056.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0002c0002t0003 | a0001c0001t0001g0022a0001c0001t0001g0191a0001c0001t0001g0192others(5): Show | 8 | 210 | 0.0381 | -12 | c.-70 others(31): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
| APBA1_chr9_69422532_69677371 | 69636918 | GGAAGGAA others(5): Show |
G | intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0030 | a0002c0002t0030g0067 | 1 | 210 | 0.0048 | -12 | c.-70 others(31): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
| APBA2_chr15_28880974_29123315 | 28940356 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02572.hp1 HG02717.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0004a0001c0001t0005a0001c0001t0029others(4): Show | a0001c0001t0004g0065a0001c0001t0005g0077a0001c0001t0029g0046others(5): Show | 8 | 204 | 0.0392 | -12 | c.-95 others(31): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| APBA2_chr15_28880974_29123315 | 28969128 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0159 | 1 | 204 | 0.0049 | -12 | c.-94 others(31): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| APBA2_chr15_28880974_29123315 | 29039098 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG02145.hp2 HG02622.hp1 others(11): Show |
a0001a0002a0005 | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0003a0001c0001t0030a0001c0007t0004others(8): Show | a0001c0001t0003g0169a0001c0001t0003g0173a0001c0001t0030g0064others(11): Show | 14 | 204 | 0.0686 | -12 | c.-40 others(31): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| APBB1IP_chr10_26433341_26572803 | 26445128 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(34): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0013others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(34): Show | 37 | 358 | 0.1034 | -12 | c.-1+ others(27): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| APBB1IP_chr10_26433341_26572803 | 26481826 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0270a0001c0001t0003g0269 | 2 | 358 | 0.0056 | -12 | c.1-1 others(27): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| APBB1IP_chr10_26433341_26572803 | 26510732 | TCTCACAC others(5): Show |
T | intron_variant | MODIFIER | HG02735.hp2 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0237a0001c0001t0002g0254 | 2 | 358 | 0.0056 | -12 | c.532 others(29): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| APBB1IP_chr10_26433341_26572803 | 26510734 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG03704.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0044 | 2 | 358 | 0.0056 | -12 | c.532 others(27): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| APBB1IP_chr10_26433341_26572803 | 26550368 | TCTTTAAA others(5): Show |
T | intron_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 358 | 0.0028 | -12 | c.115 others(31): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 11/14 | chr10 | TogoVar |