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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PHACTR1_chr6_12711767_13292837 | 13003961 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 104 | 0.0096 | 30 | c.251 others(49): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13003963 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02055.hp2 HG02300.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0002g0005 others(5): Show |
8 | 68 | 0.1176 | 30 | c.251 others(49): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13003968 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 108 | 0.0093 | 30 | c.251 others(49): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13195757 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 47 | 0.0213 | 30 | c.665 others(49): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13196422 | T | TTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02486.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0002g0072 a0001c0001t0003g0099 a0001c0002t0001g0013 others(5): Show |
8 | 108 | 0.0741 | 30 | c.665 others(47): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59635194 | C | CTTTCTTT others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00621.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0123 others(20): Show |
23 | 83 | 0.2771 | 30 | c.118 others(49): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59668870 | T | TTTTTATT others(23): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 88 | 0.0114 | 30 | c.118 others(49): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHC2_chr1_33318626_33436095 | 33356273 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02074.hp1 HG02698.hp2 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0031 a0002c0004t0004g0056 a0002c0004t0004g0057 others(2): Show |
5 | 272 | 0.0184 | 30 | c.977 others(47): Show |
PHC2 | ENSG00000134686.21 | transcript | ENST00000683057.1 | protein_coding | 7/14 | chr1 | TogoVar | |||||||
PHETA1_chr12_111355679_111374095 | 111358247 | C | CTTTTTTT others(23): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG02559.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0006a0003c0005t0003 | a0001c0001t0006g0013 a0003c0005t0003g0035 |
2 | 100 | 0.0200 | 30 | c.*44 others(41): Show |
PHETA1 | ENSG00000198324.14 | transcript | ENST00000683047.1 | protein_coding | 2431 | chr12 | TogoVar | |||||||
PHEX_chrX_22027325_22256310 | 22249455 | A | AAAAAATA others(23): Show |
3_prime_UTR_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0081 | a0001c0001t0081g0018 | 1 | 70 | 0.0143 | 30 | c.*15 others(41): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 1504 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHF14_chr7_10968872_11174618 | 10985636 | C | CCGGTTTT others(23): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 282 | 0.0035 | 30 | c.900 others(47): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 3/17 | chr7 | TogoVar | |||||||
PHF14_chr7_10968872_11174618 | 11122331 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 268 | 0.0037 | 30 | c.277 others(51): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PHF14_chr7_10968872_11174618 | 11122352 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 109 | 0.0092 | 30 | c.277 others(51): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PHF14_chr7_10968872_11174618 | 11122352 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 a0001c0001t0001g0294 |
2 | 110 | 0.0182 | 30 | c.277 others(51): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PHF14_chr7_10968872_11174618 | 11122410 | C | CACGTATA others(23): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 296 | 0.0034 | 30 | c.277 others(51): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PHF20_chr20_35767015_35955370 | 35903048 | G | GTTTCCTT others(23): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158 | 1 | 126 | 0.0079 | 30 | c.156 others(49): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHF21A_chr11_45924319_46126454 | 45971890 | C | CTTTCTTT others(23): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 1 | 6 | 0.1667 | 30 | c.361 others(45): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 7/18 | chr11 | TogoVar | |||||||
PHF21A_chr11_45924319_46126454 | 45975377 | T | TAAAATAA others(23): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0097 | 1 | 37 | 0.0270 | 30 | c.361 others(47): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 7/18 | chr11 | TogoVar | |||||||
PHLDB2_chr3_111854265_111981517 | 111866014 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02257.hp1 HG02735.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0001a0002c0002t0001a0003c0006t0001others(1): Show | a0001c0001t0001g0193 a0002c0002t0001g0192 a0003c0006t0001g0194 others(1): Show |
4 | 30 | 0.1333 | 30 | c.-15 others(47): Show |
PHLDB2 | ENSG00000144824.21 | transcript | ENST00000431670.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PHLDB3_chr19_43470103_43509746 | 43487591 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02056.hp1 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0069 |
3 | 312 | 0.0096 | 30 | c.115 others(47): Show |
PHLDB3 | ENSG00000176531.11 | transcript | ENST00000292140.10 | protein_coding | 9/15 | chr19 | TogoVar | |||||||
PHLPP1_chr18_62710541_62985433 | 62766072 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0171 | 1 | 187 | 0.0053 | 30 | c.157 others(51): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62766074 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0166 | 1 | 179 | 0.0056 | 30 | c.157 others(51): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62766076 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0072 | 1 | 22 | 0.0455 | 30 | c.157 others(51): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62766076 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 22 | 0.0455 | 30 | c.157 others(51): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62766076 | A | AAAAAATA others(23): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 1 | 22 | 0.0455 | 30 | c.157 others(51): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62766076 | A | AAAATATA others(23): Show |
intron_variant | MODIFIER | HG02738.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0047 a0001c0001t0010g0099 |
2 | 23 | 0.0870 | 30 | c.157 others(51): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62849826 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 161 | 0.0062 | 30 | c.190 others(51): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62849828 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG06807.hp2 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0024 a0001c0001t0003g0090 |
2 | 132 | 0.0152 | 30 | c.190 others(51): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62849830 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01884.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0087 a0001c0001t0002g0158 |
2 | 92 | 0.0217 | 30 | c.190 others(51): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62849832 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG03453.hp1 NA20300.hp1 |
a0001a0012 | a0001c0001a0012c0011 | a0001c0001t0002a0012c0011t0007 | a0001c0001t0002g0102 a0012c0011t0007g0053 |
2 | 12 | 0.1667 | 30 | c.190 others(51): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHLPP2_chr16_71639924_71729701 | 71670695 | A | AACACACA others(23): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02818.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0016 | a0001c0001t0005g0120 a0001c0001t0005g0128 a0001c0001t0016g0123 |
3 | 41 | 0.0732 | 30 | c.153 others(49): Show |
PHLPP2 | ENSG00000040199.18 | transcript | ENST00000568954.5 | protein_coding | 10/18 | chr16 | TogoVar | |||||||
PHRF1_chr11_571470_617222 | 613610 | A | AGCTGTGA others(23): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0167 | 1 | 276 | 0.0036 | 30 | c.*18 others(41): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 1389 | chr11 | TogoVar | |||||||
PHYKPL_chr5_178203471_178237802 | 178203504 | T | TAAAAAAA others(23): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 46 | 0.0217 | 30 | c.*54 others(41): Show |
PHYKPL | ENSG00000175309.15 | transcript | ENST00000308158.10 | protein_coding | 4966 | chr5 | TogoVar | |||||||
PI4K2A_chr10_97635671_97681434 | 97642865 | T | TTCTTTCT others(23): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0315 | 1 | 183 | 0.0055 | 30 | c.435 others(47): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97642887 | T | TTCTTTCT others(23): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0280 | 1 | 345 | 0.0029 | 30 | c.435 others(47): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
PIAS1_chr15_68049315_68198847 | 68050434 | T | TATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 HG02622.hp1 HG03453.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0023 a0001c0001t0001g0039 a0002c0004t0001g0040 others(1): Show |
4 | 258 | 0.0155 | 30 | c.-38 others(41): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 3880 | chr15 | TogoVar | |||||||
PIAS1_chr15_68049315_68198847 | 68088176 | G | GTGTATAT others(23): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 28 | 0.0357 | 30 | c.469 others(47): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PIAS2_chr18_46798218_46922507 | 46807383 | A | ATATATAT others(23): Show |
3_prime_UTR_variant | MODIFIER | HG01123.hp1 HG01884.hp1 HG02970.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0133a0001c0001t0137a0001c0003t0017 | a0001c0001t0133g0107 a0001c0001t0137g0101 a0001c0003t0017g0121 |
3 | 43 | 0.0698 | 30 | c.*50 others(41): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 5049 | chr18 | TogoVar | ||||||
PIAS2_chr18_46798218_46922507 | 46807383 | A | ATATATAT others(23): Show |
3_prime_UTR_variant | MODIFIER | HG02280.hp1 HG03831.hp2 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0139a0001c0001t0149 | a0001c0001t0002g0276 a0001c0001t0139g0041 a0001c0001t0149g0316 |
3 | 43 | 0.0698 | 30 | c.*50 others(41): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 5049 | chr18 | TogoVar | ||||||
PIAS2_chr18_46798218_46922507 | 46807383 | A | ATATATAT others(23): Show |
3_prime_UTR_variant | MODIFIER | HG01516.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0051a0001c0001t0117 | a0001c0001t0051g0064 a0001c0001t0117g0038 |
2 | 42 | 0.0476 | 30 | c.*50 others(41): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 5049 | chr18 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72844728 | T | TACACACA others(23): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 1 | 149 | 0.0067 | 30 | c.122 others(49): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72902006 | A | ATATGTGT others(23): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 86 | 0.0116 | 30 | c.148 others(49): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72902006 | A | ATGTGTGT others(23): Show |
intron_variant | MODIFIER | NA18970.hp2 NA18995.hp2 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 a0001c0001t0001g0267 a0001c0001t0001g0328 |
3 | 88 | 0.0341 | 30 | c.148 others(49): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72904433 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01993.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0056 others(8): Show |
11 | 26 | 0.4231 | 30 | c.148 others(49): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72927996 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0001 | 1 | 293 | 0.0034 | 30 | c.173 others(49): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72928028 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 a0001c0001t0001g0196 |
2 | 242 | 0.0083 | 30 | c.173 others(49): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72931718 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG03041.hp1 NA19083.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0107 a0002c0002t0001g0123 |
2 | 33 | 0.0606 | 30 | c.183 others(47): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PICALM_chr11_85952175_86074084 | 85986365 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 27 | 0.0370 | 30 | c.140 others(49): Show |
PICALM | ENSG00000073921.18 | transcript | ENST00000393346.8 | protein_coding | 13/19 | chr11 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229145155 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 75 | 0.0133 | 30 | c.177 others(49): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229184820 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 others(35): Show |
38 | 223 | 0.1704 | 30 | c.31- others(47): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 1/2 | chr2 | TogoVar |