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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PEBP4_chr8_22708251_22932914 | 22860194 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02258.hp2 NA21309.hp2 |
a0001a0003 | a0001c0001a0003c0007a0003c0033 | a0001c0001t0001a0003c0007t0003a0003c0033t0008 | a0001c0001t0001g0049 a0003c0007t0003g0076 a0003c0033t0008g0026 |
3 | 278 | 0.0108 | 22 | c.259 others(41): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
PECAM1_chr17_64314415_64395860 | 64361127 | A | ATGTGTGT others(15): Show |
intron_variant | MODIFIER | NA20129.hp1 NA21309.hp1 |
a0003 | a0003c0005a0003c0018 | a0003c0005t0004a0003c0018t0037 | a0003c0005t0004g0159 a0003c0018t0037g0138 |
2 | 288 | 0.0069 | 22 | c.121 others(39): Show |
PECAM1 | ENSG00000261371.6 | transcript | ENST00000563924.6 | protein_coding | 6/15 | chr17 | TogoVar | |||||||
PECAM1_chr17_64314415_64395860 | 64361129 | A | ATGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03195.hp1 |
a0003 | a0003c0005a0003c0019 | a0003c0005t0001a0003c0019t0003 | a0003c0005t0001g0280 a0003c0019t0003g0095 |
2 | 288 | 0.0069 | 22 | c.121 others(39): Show |
PECAM1 | ENSG00000261371.6 | transcript | ENST00000563924.6 | protein_coding | 6/15 | chr17 | TogoVar | |||||||
PELP1_chr17_4664774_4709137 | 4668021 | C | CACACACA others(15): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0218 | 1 | 316 | 0.0032 | 22 | c.*34 others(33): Show |
PELP1 | ENSG00000141456.16 | transcript | ENST00000572293.7 | protein_coding | 1752 | chr17 | TogoVar | |||||||
PELP1_chr17_4664774_4709137 | 4694497 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03516.hp1 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0221 a0001c0002t0006g0225 |
2 | 316 | 0.0063 | 22 | c.250 others(39): Show |
PELP1 | ENSG00000141456.16 | transcript | ENST00000572293.7 | protein_coding | 1/16 | chr17 | TogoVar | |||||||
PEPD_chr19_33381950_33526791 | 33431992 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01358.hp1 HG02071.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(1): Show | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0081 others(22): Show |
25 | 314 | 0.0796 | 22 | c.672 others(41): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 9/14 | chr19 | TogoVar | |||||||
PER3_chr1_7779291_7850177 | 7806806 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02056.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0364 a0001c0007t0001g0262 |
2 | 410 | 0.0049 | 22 | c.113 others(41): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7806810 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 | 1 | 410 | 0.0024 | 22 | c.113 others(41): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7806812 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02027.hp1 NA18968.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0117 a0001c0003t0001g0139 |
2 | 410 | 0.0049 | 22 | c.113 others(41): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7806812 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA18986.hp2 NA18987.hp1 NA19010.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0111 a0001c0003t0001g0123 a0001c0003t0001g0147 |
3 | 410 | 0.0073 | 22 | c.113 others(41): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7806812 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 NA19081.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0103 a0001c0003t0001g0112 a0001c0003t0001g0152 |
3 | 410 | 0.0073 | 22 | c.113 others(41): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7806812 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0093 | 1 | 410 | 0.0024 | 22 | c.113 others(41): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7806812 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0301 | 1 | 410 | 0.0024 | 22 | c.113 others(41): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7815991 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01167.hp1 HG01192.hp2 others(9): Show |
a0001a0006 | a0001c0003a0006c0010 | a0001c0003t0001a0001c0003t0004a0001c0003t0016others(1): Show | a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0121 others(9): Show |
12 | 410 | 0.0293 | 22 | c.152 others(41): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PERP_chr6_138083505_138112419 | 138086314 | A | AATATATA others(15): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00609.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(5): Show | a0001c0001t0001g0072 a0001c0001t0004g0043 a0001c0001t0004g0161 others(7): Show |
12 | 430 | 0.0279 | 22 | c.*57 others(33): Show |
PERP | ENSG00000112378.12 | transcript | ENST00000421351.4 | protein_coding | 2190 | chr6 | TogoVar | |||||||
PES1_chr22_30571625_30596910 | 30574711 | A | ACCCCTCC others(15): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 | 1 | 432 | 0.0023 | 22 | c.*23 others(33): Show |
PES1 | ENSG00000100029.18 | transcript | ENST00000354694.12 | protein_coding | 1913 | chr22 | TogoVar | |||||||
PES1_chr22_30571625_30596910 | 30574728 | G | GCCGGCCC others(15): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(149): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0013a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0073 a0001c0001t0002g0006 others(58): Show |
152 | 432 | 0.3519 | 22 | c.*23 others(33): Show |
PES1 | ENSG00000100029.18 | transcript | ENST00000354694.12 | protein_coding | 1896 | chr22 | TogoVar | |||||||
PEX10_chr1_2398974_2417564 | 2401385 | T | TCCCTCCT others(15): Show |
downstream_gene_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 358 | 0.0028 | 22 | c.*43 others(33): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 2588 | chr1 | TogoVar | |||||||
PEX11G_chr19_7471875_7494035 | 7474754 | A | AGTGAGTG others(15): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0115 | 1 | 416 | 0.0024 | 22 | c.*24 others(33): Show |
PEX11G | ENSG00000104883.8 | transcript | ENST00000221480.6 | protein_coding | 2120 | chr19 | TogoVar | |||||||
PEX11G_chr19_7471875_7494035 | 7474754 | A | AGTGTGTG others(15): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 HG02717.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0007 a0001c0002t0001g0126 a0001c0004t0001g0003 others(1): Show |
5 | 416 | 0.0120 | 22 | c.*24 others(33): Show |
PEX11G | ENSG00000104883.8 | transcript | ENST00000221480.6 | protein_coding | 2120 | chr19 | TogoVar | |||||||
PEX5L_chr3_179789958_180041937 | 180024347 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02451.hp1 HG03139.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012a0001c0001t0014others(3): Show | a0001c0001t0006g0071 a0001c0001t0012g0070 a0001c0001t0014g0059 others(4): Show |
7 | 220 | 0.0318 | 22 | c.21+ others(39): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
PEX5_chr12_7184686_7216459 | 7196536 | A | ATACATAA others(15): Show |
intron_variant | MODIFIER | NA18946.hp1 NA18949.hp1 NA18954.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 a0001c0001t0003g0031 a0001c0001t0003g0183 others(1): Show |
9 | 428 | 0.0210 | 22 | c.449 others(39): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | chr12 | TogoVar | |||||||
PEX5_chr12_7184686_7216459 | 7196807 | T | TACAATGT others(15): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02559.hp2 HG02886.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0004 | a0001c0001t0004g0037 a0001c0001t0004g0212 a0001c0001t0004g0298 others(1): Show |
5 | 428 | 0.0117 | 22 | c.449 others(39): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7197029 | A | ATATATGT others(15): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02451.hp2 HG02723.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 a0001c0001t0004g0302 a0001c0001t0004g0305 |
9 | 428 | 0.0210 | 22 | c.449 others(39): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7197174 | A | ATATATGT others(15): Show |
intron_variant | MODIFIER | HG02055.hp2 NA18949.hp2 NA18968.hp2 others(1): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0001t0004a0001c0010t0002 | a0001c0001t0002g0019 a0001c0001t0004g0302 a0001c0010t0002g0019 |
4 | 428 | 0.0094 | 22 | c.449 others(39): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7197264 | A | ATATATGT others(15): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0321 | 1 | 428 | 0.0023 | 22 | c.449 others(39): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PFKFB2_chr1_207048275_207082817 | 207061165 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02965.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0012a0001c0003t0003 | a0001c0001t0012g0172 a0001c0003t0003g0207 |
2 | 342 | 0.0059 | 22 | c.86- others(35): Show |
PFKFB2 | ENSG00000123836.15 | transcript | ENST00000367080.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PFKFB2_chr1_207048275_207082817 | 207063888 | G | GGGGTGTG others(15): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01361.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050 | 2 | 342 | 0.0059 | 22 | c.507 others(35): Show |
PFKFB2 | ENSG00000123836.15 | transcript | ENST00000367080.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PFKFB3_chr10_6197932_6240532 | 6208371 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | NA18906.hp2 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0041 | a0001c0001t0013g0076 a0001c0002t0041g0075 |
2 | 432 | 0.0046 | 22 | c.76+ others(37): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKL_chr21_44295053_44332373 | 44311333 | T | TGCACACA others(15): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0302 others(2): Show |
7 | 392 | 0.0179 | 22 | c.237 others(37): Show |
PFKL | ENSG00000141959.17 | transcript | ENST00000349048.9 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085421 | A | ACAGTCCC others(15): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0287 | 1 | 402 | 0.0025 | 22 | c.186 others(39): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085492 | C | CACAGTCC others(15): Show |
intron_variant | MODIFIER | NA18957.hp2 NA21309.hp2 |
a0001 | a0001c0016a0001c0052 | a0001c0016t0001a0001c0052t0006 | a0001c0016t0001g0222 a0001c0052t0006g0099 |
2 | 402 | 0.0050 | 22 | c.186 others(39): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3110898 | T | TTGTGTGC others(15): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0309 | 1 | 402 | 0.0025 | 22 | c.109 others(41): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3120395 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0023 | 1 | 402 | 0.0025 | 22 | c.168 others(39): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PGAM5_chr12_132705842_132727734 | 132717291 | C | CGTGTTTG others(15): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0108 | 1 | 394 | 0.0025 | 22 | c.371 others(36): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PGAM5_chr12_132705842_132727734 | 132720098 | T | TGTCGATC others(15): Show |
intron_variant | MODIFIER | NA18979.hp1 NA19089.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 a0001c0001t0001g0138 |
2 | 394 | 0.0051 | 22 | c.720 others(37): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PGAP1_chr2_196828004_196931707 | 196832775 | A | ATTTTTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160 | 1 | 188 | 0.0053 | 22 | c.*84 others(33): Show |
PGAP1 | ENSG00000197121.15 | transcript | ENST00000354764.9 | protein_coding | 228 | chr2 | TogoVar | |||||||
PGAP1_chr2_196828004_196931707 | 196927409 | T | TAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 | 1 | 188 | 0.0053 | 22 | c.-81 others(31): Show |
PGAP1 | ENSG00000197121.15 | transcript | ENST00000354764.9 | protein_coding | 703 | chr2 | TogoVar | |||||||
PGAP4_chr9_101468170_101492173 | 101490596 | A | ACTTGTTA others(15): Show |
upstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 460 | 0.0022 | 22 | c.-37 others(33): Show |
PGAP4 | ENSG00000165152.9 | transcript | ENST00000374848.8 | protein_coding | 3424 | chr9 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 369614 | C | CCCGACCT others(15): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(8): Show |
a0001a0002a0004 | a0001c0004a0002c0002a0002c0005others(1): Show | a0001c0004t0002a0002c0002t0001a0002c0002t0009others(2): Show | a0001c0004t0002g0022 a0001c0004t0002g0041 a0001c0004t0002g0042 others(4): Show |
11 | 376 | 0.0293 | 22 | c.*23 others(33): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1173 | chr16 | TogoVar | |||||||
PGBD5_chr1_230309490_230431332 | 230315916 | G | GTGTATAT others(15): Show |
3_prime_UTR_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01109.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0001t0091a0001c0001t0112others(1): Show | a0001c0001t0014g0001 a0001c0001t0014g0039 a0001c0001t0014g0040 others(4): Show |
8 | 288 | 0.0278 | 22 | c.*75 others(33): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 7/7 | 7508 | chr1 | TogoVar | ||||||
PGC_chr6_41731711_41752397 | 41738205 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 | 2 | 464 | 0.0043 | 22 | c.916 others(37): Show |
PGC | ENSG00000096088.16 | transcript | ENST00000373025.7 | protein_coding | 7/8 | chr6 | TogoVar | |||||||
PGGT1B_chr5_115199012_115267877 | 115207180 | C | CATATATA others(15): Show |
3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG01123.hp2 HG01928.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0001t0069a0001c0001t0074others(5): Show | a0001c0001t0012g0222 a0001c0001t0012g0223 a0001c0001t0012g0226 others(8): Show |
11 | 372 | 0.0296 | 22 | c.*52 others(33): Show |
PGGT1B | ENSG00000164219.10 | transcript | ENST00000419445.6 | protein_coding | 9/9 | 5221 | chr5 | TogoVar | ||||||
PGGT1B_chr5_115199012_115267877 | 115238291 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02622.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0029a0001c0001t0049 | a0001c0001t0026g0277 a0001c0001t0029g0286 a0001c0001t0049g0274 |
3 | 372 | 0.0081 | 22 | c.328 others(37): Show |
PGGT1B | ENSG00000164219.10 | transcript | ENST00000419445.6 | protein_coding | 3/8 | chr5 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15467838 | T | TTTTTCCT others(15): Show |
downstream_gene_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0073 | 1 | 382 | 0.0026 | 22 | c.*82 others(31): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 806 | chr19 | TogoVar | |||||||
PGLYRP4_chr1_153325120_153353841 | 153334464 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 392 | 0.0026 | 22 | c.943 others(39): Show |
PGLYRP4 | ENSG00000163218.15 | transcript | ENST00000359650.10 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
PGLYRP4_chr1_153325120_153353841 | 153334464 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(97): Show |
a0001a0010 | a0001c0001a0010c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0071 a0001c0001t0001g0093 a0001c0001t0001g0099 others(29): Show |
100 | 392 | 0.2551 | 22 | c.943 others(39): Show |
PGLYRP4 | ENSG00000163218.15 | transcript | ENST00000359650.10 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
PGLYRP4_chr1_153325120_153353841 | 153334464 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02486.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 5 | 392 | 0.0128 | 22 | c.943 others(39): Show |
PGLYRP4 | ENSG00000163218.15 | transcript | ENST00000359650.10 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
PGM1_chr1_63588411_63665245 | 63647259 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0290 | 1 | 366 | 0.0027 | 22 | c.114 others(41): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGM2L1_chr11_74325316_74403433 | 74383824 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | NA18747.hp2 NA18962.hp1 NA18994.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0004a0002c0002t0005others(1): Show | a0001c0001t0003g0158 a0002c0002t0004g0216 a0002c0002t0005g0175 others(3): Show |
6 | 380 | 0.0158 | 22 | c.112 others(39): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 1/13 | chr11 | TogoVar |