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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PARVG_chr22_44175925_44213469 | 44198944 | A | ATCCATCC others(97): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0143 | 1 | 403 | 0.0025 | 104 | c.813 others(119): Show |
PARVG | ENSG00000138964.17 | transcript | ENST00000444313.8 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241115957 | C | CAGGGCCA others(97): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG01081.hp1 others(37): Show |
a0004a0005 | a0004c0004a0004c0018a0004c0058others(2): Show | a0004c0004t0001a0004c0018t0002a0004c0058t0002others(3): Show | a0004c0004t0001g0008 a0004c0004t0001g0025 a0004c0004t0001g0089 others(34): Show |
40 | 369 | 0.1084 | 104 | c.307 others(121): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PATJ_chr1_61737480_62168915 | 61871412 | T | TACATATA others(97): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0151 | 1 | 155 | 0.0065 | 104 | c.283 others(123): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 20/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79639881 | T | TATTCCTA others(97): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0169 | 1 | 153 | 0.0065 | 104 | c.517 others(123): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721514 | T | TATAGTGT others(97): Show |
downstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 396 | 0.0025 | 104 | c.*69 others(115): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3034 | chr20 | TogoVar | |||||||
PAX8_chr2_113210997_113283921 | 113255305 | G | GGAGGGAG others(97): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0081 | 1 | 286 | 0.0035 | 104 | c.26- others(119): Show |
PAX8 | ENSG00000125618.18 | transcript | ENST00000429538.8 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45898286 | C | CCCCTCTG others(97): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0262 a0001c0001t0004g0017 |
2 | 157 | 0.0127 | 104 | c.166 others(121): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCED1A_chr20_2830314_2845655 | 2842829 | T | TATAGATG others(97): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG01261.hp2 HG01496.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0012 |
6 | 364 | 0.0165 | 104 | c.-26 others(115): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2175 | chr20 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 82806880 | T | TGGGCTTT others(97): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 186 | 0.0054 | 104 | c.147 others(125): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 20/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 82806959 | T | TCTCAAGG others(97): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00597.hp2 others(82): Show |
a0001a0002a0003others(22): Show | a0001c0003a0001c0004a0001c0007others(49): Show | a0001c0003t0019a0001c0004t0004a0001c0004t0007others(57): Show | a0001c0003t0019g0021 a0001c0004t0004g0145 a0001c0004t0007g0085 others(82): Show |
85 | 186 | 0.4570 | 104 | c.147 others(125): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 20/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 82806970 | C | CCCCACTC others(97): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0002 | a0002c0022 | a0002c0022t0003 | a0002c0022t0003g0167 | 1 | 186 | 0.0054 | 104 | c.147 others(125): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 20/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 82807203 | G | GTCAACAG others(97): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02257.hp2 others(5): Show |
a0001a0005a0017others(4): Show | a0001c0016a0001c0018a0005c0044others(5): Show | a0001c0016t0011a0001c0018t0011a0005c0044t0016others(5): Show | a0001c0016t0011g0057 a0001c0018t0011g0183 a0005c0044t0016g0038 others(5): Show |
8 | 186 | 0.0430 | 104 | c.147 others(125): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 20/24 | chr7 | TogoVar | |||||||
PCMT1_chr6_149744741_149816419 | 149786272 | C | CCCCCCCA others(97): Show |
intron_variant | MODIFIER | HG01109.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 a0001c0001t0001g0155 |
2 | 331 | 0.0060 | 104 | c.193 others(121): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 135928489 | A | ATATATAT others(97): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 110 | 0.0091 | 104 | c.22- others(121): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42769691 | C | CACATGCA others(97): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02735.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 a0001c0002t0001g0318 |
2 | 166 | 0.0120 | 104 | c.159 others(121): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDIA5_chr3_123062025_123167104 | 123152003 | T | TCCTGCCT others(97): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 306 | 0.0033 | 104 | c.127 others(123): Show |
PDIA5 | ENSG00000065485.20 | transcript | ENST00000316218.12 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PDIA5_chr3_123062025_123167104 | 123152080 | C | CCTGCCTT others(97): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0046 | 1 | 313 | 0.0032 | 104 | c.127 others(123): Show |
PDIA5 | ENSG00000065485.20 | transcript | ENST00000316218.12 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741314 | C | CGGGGGGC others(97): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0252 | 1 | 294 | 0.0034 | 104 | c.143 others(119): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDZK1IP1_chr1_47178582_47195036 | 47179107 | T | TTCTCTCT others(97): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 HG02165.hp2 NA18943.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0066 |
6 | 19 | 0.3158 | 104 | c.*48 others(115): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 4474 | chr1 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47179107 | T | TTCTCTCT others(97): Show |
downstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 14 | 0.0714 | 104 | c.*48 others(115): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 4474 | chr1 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47179107 | T | TTCTCTCT others(97): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 14 | 0.0714 | 104 | c.*48 others(115): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 4474 | chr1 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47179107 | T | TTCTCTCT others(97): Show |
downstream_gene_variant | MODIFIER | HG02293.hp1 HG03942.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0002t0001g0008 |
2 | 15 | 0.1333 | 104 | c.*48 others(115): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 4474 | chr1 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47179107 | T | TTCTCTCT others(97): Show |
downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 14 | 0.0714 | 104 | c.*48 others(115): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 4474 | chr1 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47179107 | T | TTCTCTCT others(97): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0002t0001g0044 |
2 | 15 | 0.1333 | 104 | c.*48 others(115): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 4474 | chr1 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47179107 | T | TTCTCTCT others(97): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 14 | 0.0714 | 104 | c.*48 others(115): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 4474 | chr1 | TogoVar | |||||||
PEBP1_chr12_118131124_118150584 | 118133224 | T | TTCATTTC others(97): Show |
upstream_gene_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 392 | 0.0026 | 104 | c.-29 others(115): Show |
PEBP1 | ENSG00000089220.5 | transcript | ENST00000261313.3 | protein_coding | 2899 | chr12 | TogoVar | |||||||
PEBP4_chr8_22708251_22932914 | 22728555 | T | TCTTCCTT others(97): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0147 | 1 | 258 | 0.0039 | 104 | c.358 others(121): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | |||||||
PEX5_chr12_7184686_7216459 | 7197440 | T | TAATTATA others(97): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02735.hp1 NA20752.hp2 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0022 | 3 | 389 | 0.0077 | 104 | c.449 others(121): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | chr12 | TogoVar | |||||||
PFKP_chr10_3062548_3141802 | 3106698 | C | CTCACCCC others(97): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0042 | 1 | 152 | 0.0066 | 104 | c.775 others(119): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3106734 | C | CCTTCACC others(97): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0302 | 1 | 394 | 0.0025 | 104 | c.775 others(119): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PGS1_chr17_78373649_78429659 | 78397289 | A | ACAGACGG others(97): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(77): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(8): Show | a0001c0001t0001g0152 a0001c0002t0001g0001 a0001c0002t0001g0007 others(72): Show |
80 | 396 | 0.2020 | 104 | c.411 others(119): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PGS1_chr17_78373649_78429659 | 78397291 | A | GGACGGGC others(97): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0173 | 1 | 225 | 0.0044 | 104 | c.411 others(119): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
PIBF1_chr13_72777133_73021461 | 72927996 | C | CATATATA others(97): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01256.hp2 HG01981.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 |
3 | 295 | 0.0102 | 104 | c.173 others(123): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIEZO2_chr18_10665247_11154569 | 10716651 | C | CCGCCCCT others(97): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0007 | a0007c0004 | a0007c0004t0003 | a0007c0004t0003g0149 | 1 | 158 | 0.0063 | 104 | c.509 others(121): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 37/55 | chr18 | TogoVar | |||||||
PIGQ_chr16_564968_589109 | 565736 | A | AGGAGAGC others(97): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0310 | 1 | 342 | 0.0029 | 104 | c.-43 others(115): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 4231 | chr16 | TogoVar | |||||||
PIGQ_chr16_564968_589109 | 584944 | A | ACCTCCCG others(97): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(142): Show |
a0002a0005a0007others(2): Show | a0002c0001a0002c0006a0002c0007others(6): Show | a0002c0001t0001a0002c0001t0005a0002c0001t0011others(14): Show | a0002c0001t0001g0004 a0002c0001t0001g0014 a0002c0001t0001g0015 others(131): Show |
145 | 177 | 0.8192 | 104 | c.*19 others(115): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 836 | chr16 | TogoVar | |||||||
PIGQ_chr16_564968_589109 | 584944 | A | ACCTCCCG others(97): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0145 | 1 | 33 | 0.0303 | 104 | c.*19 others(115): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 836 | chr16 | TogoVar | |||||||
PIK3C3_chr18_41950234_42092830 | 41952015 | A | AGGGAAGG others(97): Show |
upstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 100 | 0.0100 | 104 | c.-32 others(115): Show |
PIK3C3 | ENSG00000078142.14 | transcript | ENST00000262039.9 | protein_coding | 3218 | chr18 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109340619 | C | CCTCTCCC others(97): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0111 | 1 | 163 | 0.0061 | 104 | c.200 others(123): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | |||||||
PLCG2_chr16_81774291_81967685 | 81776079 | C | CTCGTTCT others(97): Show |
upstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 77 | 0.0130 | 104 | c.-33 others(115): Show |
PLCG2 | ENSG00000197943.12 | transcript | ENST00000564138.6 | protein_coding | 3211 | chr16 | TogoVar | |||||||
PLCG2_chr16_81774291_81967685 | 81776079 | C | CTCGTTCT others(97): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 NA19000.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0008 | a0001c0001t0001g0070 a0001c0002t0008g0105 |
2 | 78 | 0.0256 | 104 | c.-33 others(115): Show |
PLCG2 | ENSG00000197943.12 | transcript | ENST00000564138.6 | protein_coding | 3211 | chr16 | TogoVar | |||||||
PLCG2_chr16_81774291_81967685 | 81776079 | C | CTCGTTCT others(97): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0039 | a0001c0039t0016 | a0001c0039t0016g0007 | 1 | 77 | 0.0130 | 104 | c.-33 others(115): Show |
PLCG2 | ENSG00000197943.12 | transcript | ENST00000564138.6 | protein_coding | 3211 | chr16 | TogoVar | |||||||
PLD3_chr19_40343695_40383485 | 40377299 | C | CACAGGCA others(97): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(137): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0003c0009others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(96): Show |
140 | 283 | 0.4947 | 104 | c.118 others(121): Show |
PLD3 | ENSG00000105223.21 | transcript | ENST00000409735.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PLEKHG7_chr12_92697989_92777455 | 92745329 | C | CCACTTTT others(97): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02572.hp1 HG03098.hp1 others(2): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0006a0002c0003t0004a0002c0003t0022 | a0002c0002t0006g0026 a0002c0003t0004g0023 a0002c0003t0004g0024 others(2): Show |
5 | 250 | 0.0200 | 104 | c.113 others(121): Show |
PLEKHG7 | ENSG00000187510.11 | transcript | ENST00000344636.6 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLEKHH1_chr14_67528290_67594612 | 67569373 | G | GTCCCACC others(97): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01167.hp1 HG01993.hp1 others(8): Show |
a0002a0007a0020 | a0002c0011a0002c0025a0002c0067others(2): Show | a0002c0011t0001a0002c0011t0005a0002c0025t0005others(3): Show | a0002c0011t0001g0262 a0002c0011t0001g0263 a0002c0011t0005g0133 others(8): Show |
11 | 412 | 0.0267 | 104 | c.134 others(121): Show |
PLEKHH1 | ENSG00000054690.14 | transcript | ENST00000329153.10 | protein_coding | 8/28 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PLVAP_chr19_17346455_17382342 | 17349191 | T | TCTTTCTT others(97): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 419 | 0.0024 | 104 | c.*31 others(115): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 2263 | chr19 | TogoVar | |||||||
PNLDC1_chr6_159795276_159825704 | 159816140 | G | GCCACACC others(97): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0148 | 1 | 135 | 0.0074 | 104 | c.106 others(121): Show |
PNLDC1 | ENSG00000146453.13 | transcript | ENST00000392167.4 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNLDC1_chr6_159795276_159825704 | 159816154 | C | CCACCCAC others(97): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 397 | 0.0025 | 104 | c.106 others(121): Show |
PNLDC1 | ENSG00000146453.13 | transcript | ENST00000392167.4 | protein_coding | 13/18 | chr6 | TogoVar | |||||||
PNMA5_chrX_152983824_152999116 | 152998672 | A | AAATATAT others(97): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 4 | 0.2500 | 104 | c.-49 others(115): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4557 | chrX | TogoVar | |||||||
PNPLA3_chr22_43918805_43952582 | 43948714 | T | TGCATTTG others(97): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0143 | 1 | 418 | 0.0024 | 104 | c.*23 others(115): Show |
PNPLA3 | ENSG00000100344.11 | transcript | ENST00000216180.8 | protein_coding | 1133 | chr22 | TogoVar |