regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PER3_chr1_7779291_7850177 | 7806808 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0088 | 1 | 410 | 0.0024 | 18 | c.113 others(37): 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(11): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 | 1 | 410 | 0.0024 | 18 | c.113 others(37): 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(11): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0151 | 1 | 410 | 0.0024 | 18 | c.113 others(37): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PERP_chr6_138083505_138112419 | 138086314 | A | AATAAATA others(11): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 HG02895.hp2 HG03486.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0057a0002c0002t0039 | a0001c0001t0057g0178a0002c0002t0039g0132a0002c0002t0039g0188 | 3 | 430 | 0.0070 | 18 | c.*57 others(29): Show |
PERP | ENSG00000112378.12 | transcript | ENST00000421351.4 | protein_coding | 2190 | chr6 | TogoVar | ||||||
PERP_chr6_138083505_138112419 | 138086314 | A | AATATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02572.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0016a0001c0001t0036a0001c0001t0091others(1): Show | a0001c0001t0016g0025a0001c0001t0016g0168a0001c0001t0016g0170others(5): Show | 9 | 430 | 0.0209 | 18 | c.*57 others(29): Show |
PERP | ENSG00000112378.12 | transcript | ENST00000421351.4 | protein_coding | 2190 | chr6 | TogoVar | ||||||
PET117_chr20_18132863_18148169 | 18139633 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 424 | 0.0024 | 18 | c.96+ others(33): Show |
PET117 | ENSG00000232838.4 | transcript | ENST00000432901.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PEX11G_chr19_7471875_7494035 | 7474754 | A | AGTGAGTG others(11): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0014 | 1 | 416 | 0.0024 | 18 | c.*24 others(29): Show |
PEX11G | ENSG00000104883.8 | transcript | ENST00000221480.6 | protein_coding | 2120 | chr19 | TogoVar | ||||||
PEX11G_chr19_7471875_7494035 | 7474754 | A | AGTGTGTG others(11): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01346.hp1 others(17): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0002t0008a0001c0003t0001others(3): Show | a0001c0002t0001g0026a0001c0002t0008g0073a0001c0003t0001g0010others(8): Show | 20 | 416 | 0.0481 | 18 | c.*24 others(29): Show |
PEX11G | ENSG00000104883.8 | transcript | ENST00000221480.6 | protein_coding | 2120 | chr19 | TogoVar | ||||||
PEX12_chr17_35569795_35583571 | 35581315 | T | TATATATA others(11): Show |
upstream_gene_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 436 | 0.0023 | 18 | c.-32 others(29): Show |
PEX12 | ENSG00000108733.11 | transcript | ENST00000225873.9 | protein_coding | 2745 | chr17 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10520148 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0210 | 1 | 258 | 0.0039 | 18 | c.85- others(35): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX26_chr22_18072990_18110396 | 18081243 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0144 | a0001c0001t0144g0098 | 1 | 398 | 0.0025 | 18 | c.371 others(35): Show |
PEX26 | ENSG00000215193.14 | transcript | ENST00000399744.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PEX2_chr8_76975258_77005078 | 77000360 | T | TGAGGACA others(11): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(110): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0015others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0023others(37): Show | 113 | 412 | 0.2743 | 18 | c.-53 others(27): Show |
PEX2 | ENSG00000164751.15 | transcript | ENST00000357039.9 | protein_coding | 283 | chr8 | TogoVar | ||||||
PEX5L_chr3_179789958_180041937 | 180010246 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0029 | 1 | 220 | 0.0046 | 18 | c.21+ others(35): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
PEX5L_chr3_179789958_180041937 | 180024347 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG03471.hp1 NA18955.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0051a0001c0001t0068 | a0001c0001t0023g0075a0001c0001t0051g0076a0001c0001t0068g0095 | 3 | 220 | 0.0136 | 18 | c.21+ others(35): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7196750 | A | ATATACAA others(11): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0220 | 1 | 428 | 0.0023 | 18 | c.449 others(35): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | chr12 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7196829 | A | ATATACAA others(11): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02257.hp1 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0215a0001c0001t0004g0217a0001c0001t0004g0218others(3): Show | 6 | 428 | 0.0140 | 18 | c.449 others(35): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | chr12 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7196849 | A | ATATGTCA others(11): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0219 | 1 | 428 | 0.0023 | 18 | c.449 others(35): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PEX5_chr12_7184686_7216459 | 7196876 | A | ATATGTCA others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0213 | 1 | 428 | 0.0023 | 18 | c.449 others(35): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PEX5_chr12_7184686_7216459 | 7196910 | A | ATATACAA others(11): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0219 | 1 | 428 | 0.0023 | 18 | c.449 others(35): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | chr12 | TogoVar | ||||||
PFDN1_chr5_140240035_140308101 | 140279998 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02559.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084a0001c0001t0001g0092a0001c0001t0001g0116 | 3 | 330 | 0.0091 | 18 | c.285 others(35): Show |
PFDN1 | ENSG00000113068.10 | transcript | ENST00000261813.9 | protein_coding | 3/3 | chr5 | TogoVar | ||||||
PFDN1_chr5_140240035_140308101 | 140279999 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0071a0001c0001t0001g0081a0001c0001t0001g0090others(3): Show | 6 | 330 | 0.0182 | 18 | c.285 others(35): Show |
PFDN1 | ENSG00000113068.10 | transcript | ENST00000261813.9 | protein_coding | 3/3 | chr5 | TogoVar | ||||||
PFDN2_chr1_161095561_161123037 | 161097736 | C | CTCTCTCT others(11): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 370 | 0.0027 | 18 | c.*29 others(29): Show |
PFDN2 | ENSG00000143256.5 | transcript | ENST00000368010.4 | protein_coding | 2824 | chr1 | TogoVar | ||||||
PFDN2_chr1_161095561_161123037 | 161097736 | C | CTCTCTCT others(11): Show |
downstream_gene_variant | MODIFIER | NA18967.hp1 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0095 | 2 | 370 | 0.0054 | 18 | c.*29 others(29): Show |
PFDN2 | ENSG00000143256.5 | transcript | ENST00000368010.4 | protein_coding | 2824 | chr1 | TogoVar | ||||||
PFKFB2_chr1_207048275_207082817 | 207061165 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01070.hp2 HG01071.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0012a0001c0003t0003others(1): Show | a0001c0001t0003g0217a0001c0001t0003g0223a0001c0001t0012g0096others(8): Show | 14 | 342 | 0.0409 | 18 | c.86- others(31): 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(11): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG01167.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0003a0001c0001t0022a0001c0001t0028others(3): Show | a0001c0001t0003g0004a0001c0001t0003g0044a0001c0001t0003g0188others(16): Show | 25 | 342 | 0.0731 | 18 | c.507 others(31): Show |
PFKFB2 | ENSG00000123836.15 | transcript | ENST00000367080.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PFKFB2_chr1_207048275_207082817 | 207063888 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02622.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0205a0001c0001t0003g0217 | 2 | 342 | 0.0059 | 18 | c.507 others(31): Show |
PFKFB2 | ENSG00000123836.15 | transcript | ENST00000367080.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PFKFB3_chr10_6197932_6240532 | 6216429 | G | GCCCTTCC others(11): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03942.hp2 HG04204.hp2 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0019 | a0001c0003t0002g0288a0001c0003t0019g0280a0001c0003t0019g0292 | 3 | 432 | 0.0069 | 18 | c.366 others(33): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3093638 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02970.hp2 |
a0001 | a0001c0007a0001c0011 | a0001c0007t0005a0001c0011t0004 | a0001c0007t0005g0172a0001c0011t0004g0196 | 2 | 402 | 0.0050 | 18 | c.187 others(35): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3100277 | G | GCCCTGCT others(11): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0142 | 1 | 402 | 0.0025 | 18 | c.264 others(33): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3100862 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0177 | 1 | 402 | 0.0025 | 18 | c.265 others(33): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3106626 | T | TTCACCCC others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG01255.hp2 others(5): Show |
a0001 | a0001c0005a0001c0007a0001c0010 | a0001c0005t0004a0001c0005t0007a0001c0007t0005others(2): Show | a0001c0005t0004g0175a0001c0005t0007g0032a0001c0007t0005g0093others(5): Show | 8 | 402 | 0.0199 | 18 | c.775 others(33): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3120369 | C | CTTTGTGT others(11): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0017 | a0001c0017t0011 | a0001c0017t0011g0396 | 1 | 402 | 0.0025 | 18 | c.168 others(35): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3133659 | G | GACCTCAG others(11): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02135.hp2 others(6): Show |
a0001 | a0001c0002a0001c0005a0001c0017others(2): Show | a0001c0002t0010a0001c0005t0010a0001c0017t0011others(2): Show | a0001c0002t0010g0023a0001c0005t0010g0167a0001c0005t0010g0192others(6): Show | 9 | 402 | 0.0224 | 18 | c.202 others(35): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PGAP1_chr2_196828004_196931707 | 196832775 | A | ATTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 HG01884.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0133a0001c0001t0002g0135a0001c0001t0002g0139others(3): Show | 6 | 188 | 0.0319 | 18 | c.*84 others(29): Show |
PGAP1 | ENSG00000197121.15 | transcript | ENST00000354764.9 | protein_coding | 228 | chr2 | TogoVar | ||||||
PGAP1_chr2_196828004_196931707 | 196927409 | T | TAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 188 | 0.0053 | 18 | c.-81 others(27): Show |
PGAP1 | ENSG00000197121.15 | transcript | ENST00000354764.9 | protein_coding | 703 | chr2 | TogoVar | ||||||
PGAP2_chr11_3803560_3831371 | 3814887 | T | TCCCTTTC others(11): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 418 | 0.0024 | 18 | c.166 others(35): Show |
PGAP2 | ENSG00000148985.20 | transcript | ENST00000278243.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PGAP3_chr17_39666122_39693057 | 39691546 | T | TAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG02895.hp2 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0041a0001c0001t0004g0043a0001c0001t0004g0176 | 4 | 376 | 0.0106 | 18 | c.-35 others(29): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3490 | chr17 | TogoVar | ||||||
PGAP3_chr17_39666122_39693057 | 39691556 | A | AAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0173a0001c0001t0004g0177 | 2 | 376 | 0.0053 | 18 | c.-35 others(29): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3500 | chr17 | TogoVar | ||||||
PGAP3_chr17_39666122_39693057 | 39691866 | G | GATAGATA others(11): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0065 | 1 | 376 | 0.0027 | 18 | c.-38 others(29): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3810 | chr17 | TogoVar | ||||||
PGAP3_chr17_39666122_39693057 | 39691928 | C | CATATATA others(11): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 376 | 0.0027 | 18 | c.-39 others(29): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3872 | chr17 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 378181 | C | CCCACCCG others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0100 | 1 | 376 | 0.0027 | 18 | c.122 others(33): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 378204 | C | CCGCACTG others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(57): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0005a0002c0021others(3): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0004others(14): Show | a0002c0002t0001g0003a0002c0002t0001g0018a0002c0002t0001g0019others(32): Show | 60 | 376 | 0.1596 | 18 | c.122 others(33): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 378261 | C | CACTGCCA others(11): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0174 | 1 | 376 | 0.0027 | 18 | c.122 others(33): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 378279 | C | CACTGCCA others(11): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0020 | 1 | 376 | 0.0027 | 18 | c.122 others(33): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 378302 | C | CCATCCCC others(11): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0020 | 1 | 376 | 0.0027 | 18 | c.122 others(33): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 378351 | G | GACTGCCA others(11): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG01981.hp2 others(4): Show |
a0002a0004 | a0002c0005a0004c0006 | a0002c0005t0014a0004c0006t0001a0004c0006t0008 | a0002c0005t0014g0167a0004c0006t0001g0020a0004c0006t0001g0161others(3): Show | 7 | 376 | 0.0186 | 18 | c.122 others(33): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 378397 | G | GCCACCCA others(11): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03041.hp2 HG03195.hp1 |
a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0016a0001c0007t0005g0027 | 3 | 376 | 0.0080 | 18 | c.122 others(33): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230310875 | C | CTCTGTTA others(11): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG01255.hp1 HG02155.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0045a0001c0001t0054others(2): Show | a0001c0001t0004g0092a0001c0001t0004g0139a0001c0001t0004g0145others(8): Show | 11 | 288 | 0.0382 | 18 | c.*12 others(31): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 3614 | chr1 | TogoVar | ||||||
PGC_chr6_41731711_41752397 | 41738193 | T | TATATATG others(11): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 464 | 0.0022 | 18 | c.916 others(33): Show |
PGC | ENSG00000096088.16 | transcript | ENST00000373025.7 | protein_coding | 7/8 | chr6 | TogoVar | ||||||
PGD_chr1_10394064_10425511 | 10405401 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0002a0001c0001t0003a0001c0014t0003 | a0001c0001t0002g0182a0001c0001t0003g0030a0001c0014t0003g0030 | 4 | 394 | 0.0102 | 18 | c.449 others(35): Show |
PGD | ENSG00000142657.21 | transcript | ENST00000270776.13 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |