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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDIA6_chr2_10778391_10817785 | 10806628 | C | CAGACAGA others(33): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0132 | 1 | 202 | 0.0050 | 40 | c.20- others(55): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
PDIA6_chr2_10778391_10817785 | 10806628 | C | CAGACAGA others(33): Show |
intron_variant | MODIFIER | HG01943.hp1 NA19030.hp2 |
a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0125 a0001c0005t0003g0240 |
2 | 203 | 0.0099 | 40 | c.20- others(55): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
PDILT_chr16_20354175_20409737 | 20402290 | A | ATCTTTTC others(33): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0187 | 1 | 27 | 0.0370 | 40 | c.-8+ others(55): Show |
PDILT | ENSG00000169340.10 | transcript | ENST00000302451.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
PDLIM1_chr10_95232572_95296003 | 95256994 | G | GAAAGAAA others(33): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0303 | 1 | 322 | 0.0031 | 40 | c.533 others(57): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
PDLIM1_chr10_95232572_95296003 | 95257038 | G | GAAAGAAA others(33): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02647.hp2 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0057 a0001c0001t0001g0181 a0001c0001t0005g0216 |
3 | 239 | 0.0126 | 40 | c.533 others(57): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39909040 | A | AAAAATAA others(33): Show |
intron_variant | MODIFIER | HG02109.hp2 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0125 a0001c0002t0003g0160 |
2 | 92 | 0.0217 | 40 | c.108 others(57): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 10/32 | chr4 | TogoVar | |||||||
PDS5B_chr13_32581452_32783019 | 32655374 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 117 | 0.0085 | 40 | c.313 others(57): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32655374 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 117 | 0.0085 | 40 | c.313 others(57): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32655374 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 117 | 0.0085 | 40 | c.313 others(57): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDSS1_chr10_26692701_26751798 | 26693079 | T | TTATATAT others(33): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG01074.hp2 HG02155.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0022 others(9): Show |
12 | 137 | 0.0876 | 40 | c.-46 others(51): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 4621 | chr10 | TogoVar | |||||||
PDSS1_chr10_26692701_26751798 | 26693079 | T | TTTTATAT others(33): Show |
upstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 126 | 0.0079 | 40 | c.-46 others(51): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 4621 | chr10 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107458412 | C | CAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 75 | 0.0133 | 40 | c.296 others(55): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
PDZD2_chr5_31634131_32115932 | 31689353 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0003 | a0003c0004 | a0003c0004t0026 | a0003c0004t0026g0104 | 1 | 30 | 0.0333 | 40 | c.-36 others(61): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZK1IP1_chr1_47178582_47195036 | 47191928 | C | CGGGGTGT others(33): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 424 | 0.0024 | 40 | c.-19 others(51): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 1893 | chr1 | TogoVar | |||||||
PDZRN4_chr12_41183320_41579745 | 41317048 | G | GTATACAT others(33): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0123 | 1 | 36 | 0.0278 | 40 | c.843 others(61): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEBP1_chr12_118131124_118150584 | 118133194 | A | ATTATTTT others(33): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0023 | 1 | 187 | 0.0053 | 40 | c.-30 others(51): Show |
PEBP1 | ENSG00000089220.5 | transcript | ENST00000261313.3 | protein_coding | 2929 | chr12 | TogoVar | |||||||
PEBP4_chr8_22708251_22932914 | 22728555 | T | TCTTCCTT others(33): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0004 | a0004c0010 | a0004c0010t0004 | a0004c0010t0004g0182 | 1 | 258 | 0.0039 | 40 | c.358 others(57): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | |||||||
PEBP4_chr8_22708251_22932914 | 22728559 | T | TCTTCCTT others(33): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0004 | a0004c0010 | a0004c0010t0004 | a0004c0010t0004g0190 | 1 | 83 | 0.0120 | 40 | c.358 others(57): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | |||||||
PECAM1_chr17_64314415_64395860 | 64377613 | A | AAAGGAAG others(33): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0019 | 1 | 286 | 0.0035 | 40 | c.385 others(55): Show |
PECAM1 | ENSG00000261371.6 | transcript | ENST00000563924.6 | protein_coding | 3/15 | chr17 | TogoVar | |||||||
PECAM1_chr17_64314415_64395860 | 64377617 | A | AAAGGAAG others(33): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01070.hp1 others(35): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0030 a0001c0001t0001g0031 others(34): Show |
38 | 180 | 0.2111 | 40 | c.385 others(55): Show |
PECAM1 | ENSG00000261371.6 | transcript | ENST00000563924.6 | protein_coding | 3/15 | chr17 | TogoVar | |||||||
PERP_chr6_138083505_138112419 | 138086314 | A | AATATATA others(33): Show |
downstream_gene_variant | MODIFIER | NA18969.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0021 | 1 | 196 | 0.0051 | 40 | c.*57 others(51): Show |
PERP | ENSG00000112378.12 | transcript | ENST00000421351.4 | protein_coding | 2190 | chr6 | TogoVar | |||||||
PEX11B_chr1_145906350_145923717 | 145909445 | C | CTATATAA others(33): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 HG03831.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0070 |
3 | 365 | 0.0082 | 40 | c.*26 others(51): Show |
PEX11B | ENSG00000131779.11 | transcript | ENST00000369306.8 | protein_coding | 1904 | chr1 | TogoVar | |||||||
PEX11G_chr19_7471875_7494035 | 7474080 | T | TGTAATCC others(33): Show |
downstream_gene_variant | MODIFIER | NA18943.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0002 | 1 | 414 | 0.0024 | 40 | c.*31 others(51): Show |
PEX11G | ENSG00000104883.8 | transcript | ENST00000221480.6 | protein_coding | 2794 | chr19 | TogoVar | |||||||
PEX5L_chr3_179789958_180041937 | 180024347 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0063 | 1 | 112 | 0.0089 | 40 | c.21+ others(57): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
PFKFB3_chr10_6197932_6240532 | 6206807 | G | GGCCGGGC others(33): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0037 | 1 | 430 | 0.0023 | 40 | c.76+ others(55): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3062688 | C | CATTCATT others(33): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0066 | 1 | 336 | 0.0030 | 40 | c.-49 others(51): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 4859 | chr10 | TogoVar | |||||||
PFKP_chr10_3062548_3141802 | 3106606 | C | CTCGCCCC others(33): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(153): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0002g0007 a0001c0001t0002g0023 a0001c0001t0002g0037 others(152): Show |
156 | 397 | 0.3929 | 40 | c.775 others(55): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230315917 | T | TGTATATG others(33): Show |
3_prime_UTR_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0163 | 1 | 201 | 0.0050 | 40 | c.*74 others(51): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 7/7 | 7507 | chr1 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230315935 | T | TATGTATG others(33): Show |
3_prime_UTR_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0098 | a0001c0002t0098g0111 | 1 | 286 | 0.0035 | 40 | c.*74 others(51): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 7/7 | 7489 | chr1 | TogoVar | ||||||
PGPEP1_chr19_18335598_18374950 | 18364079 | G | GCTTTCTT others(33): Show |
3_prime_UTR_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0208 | a0001c0001t0208g0115 | 1 | 409 | 0.0024 | 40 | c.*49 others(49): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 5/5 | 499 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PGPEP1_chr19_18335598_18374950 | 18364083 | G | GCTTTCTT others(33): Show |
3_prime_UTR_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0198 | a0001c0001t0198g0042 | 1 | 172 | 0.0058 | 40 | c.*53 others(49): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 5/5 | 532 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PGPEP1_chr19_18335598_18374950 | 18364083 | G | GCTTTTCT others(33): Show |
3_prime_UTR_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0224 | a0001c0001t0224g0193 | 1 | 172 | 0.0058 | 40 | c.*50 others(49): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 5/5 | 505 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PGPEP1_chr19_18335598_18374950 | 18364103 | T | TCTTTCTT others(33): Show |
3_prime_UTR_variant | MODIFIER | HG02897.hp1 HG03453.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0079a0001c0001t0158a0001c0001t0159 | a0001c0001t0079g0172 a0001c0001t0158g0022 a0001c0001t0159g0120 |
3 | 298 | 0.0101 | 40 | c.*53 others(49): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 5/5 | 532 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 13000614 | G | GAGGAAGG others(33): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 33 | 0.0303 | 40 | c.251 others(59): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59668870 | T | TTTTTATT others(33): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 88 | 0.0114 | 40 | c.118 others(59): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59821975 | G | GCAGCGAT others(33): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0037 a0001c0001t0003g0128 |
2 | 239 | 0.0084 | 40 | c.132 others(61): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59821980 | G | GATCCCAC others(33): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012 | a0001c0001t0004g0197 a0001c0001t0012g0006 |
2 | 116 | 0.0172 | 40 | c.132 others(61): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59821980 | G | GATCCCAC others(33): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02622.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0200 a0001c0001t0002g0072 a0001c0001t0003g0130 others(3): Show |
6 | 120 | 0.0500 | 40 | c.132 others(61): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59822000 | A | AATCCCAC others(33): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG02165.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0016 | a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0036 others(5): Show |
8 | 204 | 0.0392 | 40 | c.132 others(61): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59822000 | A | AATCCCAC others(33): Show |
intron_variant | MODIFIER | HG01928.hp2 HG02015.hp1 HG02486.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0142 others(4): Show |
7 | 203 | 0.0345 | 40 | c.132 others(61): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59822090 | C | CCAGCGAT others(33): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0116 | 1 | 241 | 0.0041 | 40 | c.132 others(61): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHC2_chr1_33318626_33436095 | 33356275 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18979.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0222 a0001c0003t0003g0223 |
2 | 203 | 0.0099 | 40 | c.977 others(57): Show |
PHC2 | ENSG00000134686.21 | transcript | ENST00000683057.1 | protein_coding | 7/14 | chr1 | TogoVar | |||||||
PHF12_chr17_28900250_28956518 | 28923653 | C | CAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 63 | 0.0159 | 40 | c.715 others(55): Show |
PHF12 | ENSG00000109118.14 | transcript | ENST00000332830.9 | protein_coding | 4/14 | chr17 | TogoVar | |||||||
PHF14_chr7_10968872_11174618 | 11122352 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG01981.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0239 a0001c0002t0001g0064 a0001c0002t0001g0084 others(1): Show |
4 | 112 | 0.0357 | 40 | c.277 others(61): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PHKA2_chrX_18887298_18989114 | 18957738 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 | 1 | 171 | 0.0058 | 40 | c.79- others(55): Show |
PHKA2 | ENSG00000044446.12 | transcript | ENST00000379942.5 | protein_coding | 1/32 | chrX | TogoVar | |||||||
PHLDA3_chr1_201459278_201474188 | 201473464 | A | ACAGTCCT others(33): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 | a0004 | a0004c0005 | a0004c0005t0025 | a0004c0005t0025g0058 | 1 | 440 | 0.0023 | 40 | c.-46 others(51): Show |
PHLDA3 | ENSG00000174307.7 | transcript | ENST00000367311.5 | protein_coding | 4277 | chr1 | TogoVar | |||||||
PHLDB2_chr3_111854265_111981517 | 111866014 | A | ATTTTTTT others(33): Show |
intron_variant | MODIFIER | HG02647.hp1 NA18975.hp1 |
a0001a0011 | a0001c0001a0011c0029 | a0001c0001t0001a0011c0029t0025 | a0001c0001t0001g0207 a0011c0029t0025g0227 |
2 | 28 | 0.0714 | 40 | c.-15 others(57): Show |
PHLDB2 | ENSG00000144824.21 | transcript | ENST00000431670.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62849826 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 161 | 0.0062 | 40 | c.190 others(61): 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(33): Show |
intron_variant | MODIFIER | HG03540.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0079 a0001c0001t0003g0157 |
2 | 12 | 0.1667 | 40 | c.190 others(61): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHLPP2_chr16_71639924_71729701 | 71719964 | A | ATTTTTTT others(33): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0276 a0001c0001t0004g0277 |
2 | 8 | 0.2500 | 40 | c.-7+ others(55): Show |
PHLPP2 | ENSG00000040199.18 | transcript | ENST00000568954.5 | protein_coding | 1/18 | chr16 | TogoVar |