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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PERP_chr6_138083505_138112419 | 138086314 | A | AATATATA others(17): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01261.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0039 a0001c0001t0001g0069 others(12): Show |
18 | 430 | 0.0419 | 24 | c.*57 others(35): Show |
PERP | ENSG00000112378.12 | transcript | ENST00000421351.4 | protein_coding | 2190 | chr6 | TogoVar | |||||||
PEX11G_chr19_7471875_7494035 | 7474754 | A | AGTGTGTG others(17): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 HG02723.hp2 HG02965.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0001a0001c0003t0001a0001c0005t0001 | a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0003t0001g0004 others(1): Show |
6 | 416 | 0.0144 | 24 | c.*24 others(35): Show |
PEX11G | ENSG00000104883.8 | transcript | ENST00000221480.6 | protein_coding | 2120 | chr19 | TogoVar | |||||||
PEX16_chr11_45904663_45922877 | 45905906 | A | AATATATG others(17): Show |
downstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 370 | 0.0027 | 24 | c.*43 others(35): Show |
PEX16 | ENSG00000121680.16 | transcript | ENST00000378750.10 | protein_coding | 3756 | chr11 | TogoVar | |||||||
PEX1_chr7_92482025_92533520 | 92516038 | G | GAAAAAAG others(17): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0068 | 1 | 310 | 0.0032 | 24 | c.123 others(43): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 5/23 | chr7 | TogoVar | |||||||
PEX1_chr7_92482025_92533520 | 92516060 | G | GAGAAGAG others(17): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0248 | 1 | 310 | 0.0032 | 24 | c.123 others(43): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 5/23 | chr7 | TogoVar | |||||||
PEX5L_chr3_179789958_180041937 | 179797601 | A | AATATATA others(17): Show |
3_prime_UTR_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0103 | 1 | 220 | 0.0046 | 24 | c.*42 others(35): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 15/15 | 4226 | chr3 | TogoVar | ||||||
PEX5L_chr3_179789958_180041937 | 180024347 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG02258.hp1 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0058 | a0001c0001t0012g0055 a0001c0001t0058g0069 |
2 | 220 | 0.0091 | 24 | c.21+ others(41): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
PEX5_chr12_7184686_7216459 | 7196999 | A | ATAATTAT others(17): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02129.hp1 NA18946.hp2 others(5): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0002a0001c0001t0006a0005c0008t0002 | a0001c0001t0002g0017 a0001c0001t0002g0039 a0001c0001t0002g0247 others(4): Show |
8 | 428 | 0.0187 | 24 | c.449 others(41): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7197144 | A | ATAATTAT others(17): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01934.hp2 HG02083.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0174 a0001c0001t0002g0265 a0001c0001t0002g0278 others(3): Show |
7 | 428 | 0.0164 | 24 | c.449 others(41): 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(17): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0003 | a0001c0003t0027 | a0001c0003t0027g0206 | 1 | 342 | 0.0029 | 24 | c.86- others(37): Show |
PFKFB2 | ENSG00000123836.15 | transcript | ENST00000367080.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3084693 | C | CAGTCCTC others(17): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00597.hp2 others(79): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(38): Show | a0001c0001t0002g0191 a0001c0001t0002g0266 a0001c0001t0002g0303 others(79): Show |
82 | 402 | 0.2040 | 24 | c.186 others(41): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3084751 | G | GCCCCTCC others(17): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01928.hp1 HG01975.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0003t0001 | a0001c0001t0002g0338 a0001c0001t0003g0286 a0001c0001t0003g0295 others(6): Show |
9 | 402 | 0.0224 | 24 | c.186 others(41): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3084904 | T | TCCAGCAC others(17): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 402 | 0.0025 | 24 | c.186 others(41): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085080 | G | GGTCCCCC others(17): Show |
intron_variant | MODIFIER | HG01074.hp1 NA19030.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0004a0001c0006t0007 | a0001c0002t0004g0195 a0001c0006t0007g0402 |
2 | 402 | 0.0050 | 24 | c.186 others(41): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085121 | T | TCCAGCAC others(17): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG00741.hp1 others(16): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0122 a0001c0001t0002g0381 a0001c0001t0003g0380 others(16): Show |
19 | 402 | 0.0473 | 24 | c.186 others(41): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085283 | C | CCCCCTCC others(17): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0320 | 1 | 402 | 0.0025 | 24 | c.186 others(41): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | chr10 | TogoVar | |||||||
PFKP_chr10_3062548_3141802 | 3085455 | A | ACTCCACT others(17): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0023 | a0001c0023t0019 | a0001c0023t0019g0254 | 1 | 402 | 0.0025 | 24 | c.186 others(41): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | chr10 | TogoVar | |||||||
PFKP_chr10_3062548_3141802 | 3085479 | A | ACTCCACT others(17): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02109.hp1 HG02257.hp1 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0003a0001c0001t0004a0001c0003t0001others(9): Show | a0001c0001t0003g0382 a0001c0001t0003g0383 a0001c0001t0003g0392 others(15): Show |
18 | 402 | 0.0448 | 24 | c.186 others(41): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | chr10 | TogoVar | |||||||
PFKP_chr10_3062548_3141802 | 3085512 | T | TCCAGCAC others(17): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01168.hp1 HG01169.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0003t0001others(6): Show | a0001c0001t0002g0122 a0001c0001t0002g0251 a0001c0001t0004g0369 others(10): Show |
13 | 402 | 0.0323 | 24 | c.186 others(41): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085557 | C | CTCCCCAG others(17): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02886.hp2 HG03486.hp1 |
a0001 | a0001c0004a0001c0059 | a0001c0004t0004a0001c0059t0004 | a0001c0004t0004g0237 a0001c0004t0004g0238 a0001c0059t0004g0240 |
3 | 402 | 0.0075 | 24 | c.186 others(41): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085617 | G | GTCCCCCA others(17): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02717.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0009a0001c0010others(1): Show | a0001c0001t0006a0001c0009t0007a0001c0010t0001others(1): Show | a0001c0001t0006g0223 a0001c0009t0007g0081 a0001c0010t0001g0216 others(1): Show |
4 | 402 | 0.0100 | 24 | c.186 others(41): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085651 | C | CCTTCCCC others(17): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02723.hp2 HG02809.hp2 |
a0001 | a0001c0003a0001c0005a0001c0007 | a0001c0003t0001a0001c0005t0010a0001c0007t0005 | a0001c0003t0001g0169 a0001c0005t0010g0167 a0001c0007t0005g0172 |
3 | 402 | 0.0075 | 24 | c.186 others(41): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085731 | C | CCAGCACA others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00642.hp2 others(4): Show |
a0001a0002 | a0001c0002a0001c0005a0001c0027others(1): Show | a0001c0002t0004a0001c0005t0007a0001c0027t0005others(1): Show | a0001c0002t0004g0102 a0001c0002t0004g0184 a0001c0005t0007g0032 others(4): Show |
7 | 402 | 0.0174 | 24 | c.186 others(41): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085757 | C | CAGCACAG others(17): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01891.hp1 HG02055.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0003a0001c0002t0004a0001c0003t0001others(17): Show | a0001c0001t0003g0170 a0001c0002t0004g0195 a0001c0003t0001g0169 others(18): Show |
21 | 402 | 0.0522 | 24 | c.186 others(41): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085774 | C | CCCTCCCT others(17): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0070 | 1 | 402 | 0.0025 | 24 | c.186 others(41): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3104138 | T | TACTGATG others(17): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0229 | 1 | 402 | 0.0025 | 24 | c.620 others(39): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 5/21 | chr10 | TogoVar | |||||||
PFKP_chr10_3062548_3141802 | 3128627 | G | GTACGCCT others(17): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0222 | 1 | 402 | 0.0025 | 24 | c.168 others(43): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PGAM5_chr12_132705842_132727734 | 132720130 | C | CAGTCATC others(17): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0152 | 1 | 394 | 0.0025 | 24 | c.720 others(39): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PGAP1_chr2_196828004_196931707 | 196927409 | T | TAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0166 | 1 | 188 | 0.0053 | 24 | c.-81 others(33): Show |
PGAP1 | ENSG00000197121.15 | transcript | ENST00000354764.9 | protein_coding | 703 | chr2 | TogoVar | |||||||
PGAP3_chr17_39666122_39693057 | 39691574 | T | TATATATA others(17): Show |
upstream_gene_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0180 | 1 | 376 | 0.0027 | 24 | c.-35 others(35): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3518 | chr17 | TogoVar | |||||||
PGAP3_chr17_39666122_39693057 | 39691866 | G | GATAGATA others(17): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0064 | 1 | 376 | 0.0027 | 24 | c.-38 others(35): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3810 | chr17 | TogoVar | |||||||
PGAP3_chr17_39666122_39693057 | 39691904 | T | TAGATATA others(17): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 376 | 0.0027 | 24 | c.-38 others(35): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3848 | chr17 | TogoVar | |||||||
PGAP3_chr17_39666122_39693057 | 39691934 | C | CATATACA others(17): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 376 | 0.0027 | 24 | c.-39 others(35): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3878 | chr17 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 370394 | C | CCCCGCCC others(17): Show |
downstream_gene_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0030 | a0001c0030t0003 | a0001c0030t0003g0113 | 1 | 376 | 0.0027 | 24 | c.*15 others(35): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 393 | chr16 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 378516 | T | TGCCATCG others(17): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00621.hp1 others(55): Show |
a0002a0003a0010others(3): Show | a0002c0010a0003c0003a0003c0008others(4): Show | a0002c0010t0001a0003c0003t0001a0003c0003t0004others(6): Show | a0002c0010t0001g0036 a0003c0003t0001g0002 a0003c0003t0001g0034 others(24): Show |
58 | 376 | 0.1543 | 24 | c.122 others(39): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/12 | chr16 | TogoVar | |||||||
PGGT1B_chr5_115199012_115267877 | 115207180 | C | CATATATA others(17): Show |
3_prime_UTR_variant | MODIFIER | HG00642.hp2 HG02071.hp2 HG02293.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0073a0001c0001t0117 | a0001c0001t0020g0087 a0001c0001t0020g0101 a0001c0001t0020g0105 others(2): Show |
5 | 372 | 0.0134 | 24 | c.*51 others(35): Show |
PGGT1B | ENSG00000164219.10 | transcript | ENST00000419445.6 | protein_coding | 9/9 | 5221 | chr5 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15470241 | T | TTTCCTTC others(17): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01928.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 a0001c0001t0001g0301 |
2 | 382 | 0.0052 | 24 | c.134 others(41): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15470293 | C | CTTCCTTC others(17): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0195 | 1 | 382 | 0.0026 | 24 | c.134 others(41): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15482539 | C | CCTTCCTT others(17): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0206 | 1 | 382 | 0.0026 | 24 | c.-31 others(35): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3039 | chr19 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15482539 | C | CCTTTCTT others(17): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0031 | 1 | 382 | 0.0026 | 24 | c.-31 others(35): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3039 | chr19 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15482563 | T | TCTTTCTT others(17): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 382 | 0.0026 | 24 | c.-31 others(35): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3063 | chr19 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15482612 | C | CTTCCTTC others(17): Show |
upstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 382 | 0.0026 | 24 | c.-32 others(35): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3112 | chr19 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15482612 | C | CTTCTTTC others(17): Show |
upstream_gene_variant | MODIFIER | NA19077.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 382 | 0.0026 | 24 | c.-32 others(35): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3112 | chr19 | TogoVar | |||||||
PGLYRP3_chr1_153292116_153317952 | 153297499 | A | AAAGGAAG others(17): Show |
3_prime_UTR_variant | MODIFIER | HG02165.hp2 HG02602.hp1 HG02615.hp1 others(5): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0028a0001c0001t0043a0001c0001t0059others(2): Show | a0001c0001t0028g0089 a0001c0001t0028g0094 a0001c0001t0028g0103 others(4): Show |
8 | 434 | 0.0184 | 24 | c.*43 others(33): Show |
PGLYRP3 | ENSG00000159527.4 | transcript | ENST00000683862.1 | protein_coding | 8/8 | 456 | chr1 | TogoVar | ||||||
PGLYRP4_chr1_153325120_153353841 | 153334464 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02809.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 a0001c0001t0002g0035 |
4 | 392 | 0.0102 | 24 | c.943 others(41): Show |
PGLYRP4 | ENSG00000163218.15 | transcript | ENST00000359650.10 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
PGM1_chr1_63588411_63665245 | 63647259 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 366 | 0.0027 | 24 | c.114 others(43): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGM2L1_chr11_74325316_74403433 | 74355553 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0004 | a0001c0004t0015 | a0001c0004t0015g0247 | 1 | 380 | 0.0026 | 24 | c.556 others(41): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 5/13 | chr11 | TogoVar | |||||||
PGM2L1_chr11_74325316_74403433 | 74383824 | A | AATAAATA others(17): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0009 | a0009c0011 | a0009c0011t0026 | a0009c0011t0026g0280 | 1 | 380 | 0.0026 | 24 | c.112 others(41): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 1/13 | chr11 | TogoVar | |||||||
PGM2L1_chr11_74325316_74403433 | 74383824 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG01516.hp1 HG02559.hp1 NA18960.hp1 others(3): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0024a0002c0002t0004a0002c0002t0005 | a0001c0004t0024g0261 a0002c0002t0004g0102 a0002c0002t0004g0214 others(3): Show |
6 | 380 | 0.0158 | 24 | c.112 others(41): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 1/13 | chr11 | TogoVar | |||||||
PGM2_chr4_37821686_37867937 | 37841072 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02273.hp1 HG03831.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0012 | a0001c0001t0001a0002c0012t0002 | a0001c0001t0001g0032 a0001c0001t0001g0323 a0001c0001t0001g0324 others(3): Show |
7 | 446 | 0.0157 | 24 | c.719 others(39): Show |
PGM2 | ENSG00000169299.14 | transcript | ENST00000381967.9 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |