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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDGFRL_chr8_17572216_17648144 | 17638738 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp2 HG02622.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0040 a0001c0001t0001g0228 a0001c0001t0001g0229 others(11): Show |
14 | 400 | 0.0350 | -26 | c.940 others(43): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDHX_chr11_34911618_35001128 | 34964813 | TTAGCTAT others(19): Show |
T | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 314 | 0.0032 | -26 | c.642 others(43): Show |
PDHX | ENSG00000110435.13 | transcript | ENST00000227868.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PDK4_chr7_95578499_95601516 | 95580039 | TTATATAT others(19): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(149): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(53): Show |
152 | 384 | 0.3958 | -26 | c.*55 others(37): Show |
PDK4 | ENSG00000004799.8 | transcript | ENST00000005178.6 | protein_coding | 3459 | chr7 | TogoVar | |||||||
PDLIM5_chr4_94446942_94673223 | 94543778 | CTGTGTGT others(19): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG03209.hp1 HG03471.hp2 |
a0006 | a0006c0010 | a0006c0010t0009 | a0006c0010t0009g0166 a0006c0010t0009g0201 a0006c0010t0009g0202 |
3 | 218 | 0.0138 | -26 | c.248 others(45): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39817880 | CTATATAT others(19): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp1 HG03579.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0061 a0001c0013t0001g0060 |
2 | 356 | 0.0056 | -26 | c.*75 others(37): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 4982 | chr4 | TogoVar | |||||||
PDS5B_chr13_32581452_32783019 | 32635170 | GTTTTTTT others(19): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02132.hp2 HG03209.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0023a0001c0001t0037a0006c0010t0001 | a0001c0001t0023g0298 a0001c0001t0023g0299 a0001c0001t0037g0293 others(1): Show |
4 | 334 | 0.0120 | -26 | c.-19 others(45): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107225149 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 260 | 0.0039 | -26 | c.703 others(45): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
PDXDC1_chr16_14970026_15043332 | 15035995 | GTCTGTCT others(19): Show |
G | splice_acceptor_variant others(3): Show |
HIGH | NA18969.hp1 | a0011 | a0011c0014 | a0011c0014t0001 | a0011c0014t0001g0066 | 1 | 279 | 0.0036 | -26 | c.210 others(38): Show |
p.Gly others(19): Show |
PDXDC1 | ENSG00000179889.20 | transcript | ENST00000396410.9 | protein_coding | 23/23 | 2108/2367 | 703/788 | chr16 | TogoVar | ||||
PDZD7_chr10_101002679_101036129 | 101017833 | AGGAAGGA others(19): Show |
A | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG01516.hp2 others(2): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0009 | a0001c0001t0003a0002c0002t0002a0007c0009t0001 | a0001c0001t0003g0386 a0001c0001t0003g0387 a0002c0002t0002g0415 others(1): Show |
5 | 432 | 0.0116 | -26 | c.152 others(43): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 9/16 | chr10 | TogoVar | |||||||
PDZD7_chr10_101002679_101036129 | 101017887 | GAAAGAAA others(19): Show |
G | intron_variant | MODIFIER | HG02572.hp2 | a0004 | a0004c0004 | a0004c0004t0010 | a0004c0004t0010g0141 | 1 | 432 | 0.0023 | -26 | c.152 others(43): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 9/16 | chr10 | TogoVar | |||||||
PDZD8_chr10_117272274_117380440 | 117281351 | CAAAAAAA others(19): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp2 others(99): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0016others(5): Show | a0001c0001t0001a0001c0001t0025a0001c0001t0053others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0188 a0001c0001t0001g0189 others(98): Show |
102 | 322 | 0.3168 | -26 | c.*18 others(37): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 5/5 | 1891 | chr10 | TogoVar | ||||||
PDZD8_chr10_117272274_117380440 | 117357765 | CCAAAAAA others(19): Show |
C | intron_variant | MODIFIER | HG01981.hp2 HG02027.hp2 HG02109.hp1 others(17): Show |
a0001a0006 | a0001c0002a0001c0004a0006c0007 | a0001c0002t0002a0001c0002t0004a0001c0002t0006others(8): Show | a0001c0002t0002g0046 a0001c0002t0002g0057 a0001c0002t0002g0070 others(17): Show |
20 | 322 | 0.0621 | -26 | c.872 others(45): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/4 | chr10 | TogoVar | |||||||
PDZD8_chr10_117272274_117380440 | 117357766 | CAAAAAAA others(19): Show |
C | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 322 | 0.0031 | -26 | c.872 others(45): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/4 | chr10 | TogoVar | |||||||
PDZRN4_chr12_41183320_41579745 | 41383969 | ATTTTTTT others(19): Show |
A | intron_variant | MODIFIER | HG02683.hp1 HG02895.hp1 NA19006.hp1 |
a0001a0006 | a0001c0001a0001c0010a0006c0006 | a0001c0001t0002a0001c0010t0001a0006c0006t0003 | a0001c0001t0002g0110 a0001c0010t0001g0122 a0006c0006t0003g0020 |
3 | 206 | 0.0146 | -26 | c.844 others(47): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEBP4_chr8_22708251_22932914 | 22855019 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0257 | 1 | 278 | 0.0036 | -26 | c.259 others(45): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
PEBP4_chr8_22708251_22932914 | 22860168 | GTATATAT others(19): Show |
G | intron_variant | MODIFIER | HG02809.hp1 HG03098.hp2 |
a0003a0004 | a0003c0007a0004c0003 | a0003c0007t0004a0004c0003t0003 | a0003c0007t0004g0253 a0004c0003t0003g0155 |
2 | 278 | 0.0072 | -26 | c.259 others(45): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
PEMT_chr17_17500563_17596708 | 17586197 | GGAAAGAA others(19): Show |
G | intron_variant | MODIFIER | HG01891.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0013 | 1 | 348 | 0.0029 | -26 | c.96+ others(41): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | TogoVar | |||||||
PEMT_chr17_17500563_17596708 | 17586268 | GAAAGAAA others(19): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0076 | 1 | 348 | 0.0029 | -26 | c.96+ others(41): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 977838 | AATCCCCC others(19): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG01361.hp2 HG01496.hp2 others(8): Show |
a0001 | a0001c0001a0001c0022 | a0001c0001t0002a0001c0001t0003a0001c0022t0002 | a0001c0001t0002g0008 a0001c0001t0002g0107 a0001c0001t0003g0001 others(4): Show |
11 | 408 | 0.0270 | -26 | c.214 others(45): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PERP_chr6_138083505_138112419 | 138083614 | AAAGAGCT others(19): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(322): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(81): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0028 others(198): Show |
325 | 430 | 0.7558 | -26 | c.*84 others(37): Show |
PERP | ENSG00000112378.12 | transcript | ENST00000421351.4 | protein_coding | 4890 | chr6 | TogoVar | |||||||
PET117_chr20_18132863_18148169 | 18139633 | CGTGTGTG others(19): Show |
C | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 424 | 0.0024 | -26 | c.96+ others(41): Show |
PET117 | ENSG00000232838.4 | transcript | ENST00000432901.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10577548 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01192.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 a0001c0001t0001g0156 |
2 | 258 | 0.0078 | -26 | c.170 others(45): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10577550 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG01256.hp1 NA18970.hp1 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 a0001c0001t0001g0241 a0001c0001t0001g0242 |
3 | 258 | 0.0116 | -26 | c.170 others(45): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10577552 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 258 | 0.0039 | -26 | c.170 others(45): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10577562 | ATTTTTTT others(19): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 258 | 0.0039 | -26 | c.170 others(45): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX1_chr7_92482025_92533520 | 92515067 | CTATATAT others(19): Show |
C | intron_variant | MODIFIER | HG03098.hp2 NA18522.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0180 a0001c0001t0002g0040 |
3 | 310 | 0.0097 | -26 | c.124 others(45): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 5/23 | chr7 | TogoVar | |||||||
PF4V1_chr4_73848296_73859483 | 73855056 | GATATATA others(19): Show |
G | downstream_gene_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 448 | 0.0022 | -26 | c.*93 others(35): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 574 | chr4 | TogoVar | |||||||
PF4V1_chr4_73848296_73859483 | 73855083 | ATATATAT others(19): Show |
A | downstream_gene_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01106.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0001 |
12 | 448 | 0.0268 | -26 | c.*96 others(35): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 601 | chr4 | TogoVar | |||||||
PF4V1_chr4_73848296_73859483 | 73855085 | ATATATAT others(19): Show |
A | downstream_gene_variant | MODIFIER | HG02132.hp1 HG02698.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 448 | 0.0045 | -26 | c.*96 others(35): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 603 | chr4 | TogoVar | |||||||
PF4_chr4_73975811_73987027 | 73982164 | CAAAAAAA others(19): Show |
C | upstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 366 | 0.0055 | -26 | c.-23 others(35): Show |
PF4 | ENSG00000163737.5 | transcript | ENST00000296029.4 | protein_coding | 138 | chr4 | TogoVar | |||||||
PFDN2_chr1_161095561_161123037 | 161097718 | CTCTCTCT others(19): Show |
C | downstream_gene_variant | MODIFIER | NA18962.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
2 | 370 | 0.0054 | -26 | c.*29 others(37): Show |
PFDN2 | ENSG00000143256.5 | transcript | ENST00000368010.4 | protein_coding | 2842 | chr1 | TogoVar | |||||||
PFKFB4_chr3_48512684_48561803 | 48559318 | GCTCTGAG others(19): Show |
G | upstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 246 | 0.0041 | -26 | c.-25 others(37): Show |
PFKFB4 | ENSG00000114268.12 | transcript | ENST00000232375.8 | protein_coding | 2516 | chr3 | TogoVar | |||||||
PFKFB4_chr3_48512684_48561803 | 48559898 | CCACACAC others(19): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG01884.hp1 others(53): Show |
a0001a0006 | a0001c0001a0001c0006a0006c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0049 a0001c0001t0001g0057 others(43): Show |
56 | 246 | 0.2276 | -26 | c.-31 others(37): Show |
PFKFB4 | ENSG00000114268.12 | transcript | ENST00000232375.8 | protein_coding | 3096 | chr3 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 379934 | GGGCTGGG others(19): Show |
G | intron_variant | MODIFIER | HG02056.hp1 | a0010 | a0010c0038 | a0010c0038t0022 | a0010c0038t0022g0176 | 1 | 376 | 0.0027 | -26 | c.121 others(43): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/12 | chr16 | TogoVar | |||||||
PGBD2_chr1_248901235_248924146 | 248915234 | GCCCCTGG others(19): Show |
G | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0175 | 1 | 422 | 0.0024 | -26 | c.17+ others(41): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
PGBD5_chr1_230309490_230431332 | 230325913 | ACACAGGG others(19): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01255.hp1 HG02015.hp1 others(15): Show |
a0001a0008 | a0001c0001a0008c0013 | a0001c0001t0004a0001c0001t0007a0001c0001t0045others(5): Show | a0001c0001t0004g0090 a0001c0001t0004g0137 a0001c0001t0004g0143 others(15): Show |
18 | 288 | 0.0625 | -26 | c.127 others(43): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
PGBD5_chr1_230309490_230431332 | 230408295 | TGACTTAA others(19): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(6): Show | a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0224 others(11): Show |
14 | 288 | 0.0486 | -26 | c.331 others(45): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
PGLYRP4_chr1_153325120_153353841 | 153350646 | AAAAAAGA others(19): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG02559.hp2 |
a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0006 | 2 | 392 | 0.0051 | -26 | c.-21 others(37): Show |
PGLYRP4 | ENSG00000163218.15 | transcript | ENST00000359650.10 | protein_coding | 1806 | chr1 | TogoVar | |||||||
PGM1_chr1_63588411_63665245 | 63647256 | TTACATAT others(19): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02258.hp1 others(6): Show |
a0006a0011 | a0006c0007a0006c0013a0011c0016 | a0006c0007t0001a0006c0013t0001a0011c0016t0001 | a0006c0007t0001g0163 a0006c0007t0001g0166 a0006c0007t0001g0231 others(6): Show |
9 | 366 | 0.0246 | -26 | c.114 others(45): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGM1_chr1_63588411_63665245 | 63647259 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0121 | 1 | 366 | 0.0027 | -26 | c.114 others(45): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGM2_chr4_37821686_37867937 | 37866341 | CGCCTCCC others(19): Show |
C | downstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0361 | 1 | 446 | 0.0022 | -26 | c.*47 others(37): Show |
PGM2 | ENSG00000169299.14 | transcript | ENST00000381967.9 | protein_coding | 3405 | chr4 | TogoVar | |||||||
PGM5_chr9_68351611_68536061 | 68406660 | GTATATAT others(19): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG02523.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0001g0097 a0001c0001t0001g0133 a0001c0001t0001g0170 others(4): Show |
7 | 246 | 0.0285 | -26 | c.104 others(47): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13064588 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG01261.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 a0001c0001t0001g0097 |
2 | 108 | 0.0185 | -26 | c.415 others(45): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13064592 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0106 | 1 | 108 | 0.0093 | -26 | c.415 others(45): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR2_chr6_143672965_143836185 | 143771148 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | NA19004.hp2 NA19009.hp1 |
a0001 | a0001c0003 | a0001c0003t0008a0001c0003t0021 | a0001c0003t0008g0165 a0001c0003t0021g0152 |
2 | 310 | 0.0065 | -26 | c.123 others(45): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59847033 | ATTTATTT others(19): Show |
A | intron_variant | MODIFIER | HG02886.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0036 |
2 | 250 | 0.0080 | -26 | c.166 others(41): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHC2_chr1_33318626_33436095 | 33379319 | TGCCCCCC others(19): Show |
T | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0231 | 1 | 370 | 0.0027 | -26 | c.-54 others(43): Show |
PHC2 | ENSG00000134686.21 | transcript | ENST00000683057.1 | protein_coding | 1/14 | chr1 | TogoVar | |||||||
PHF21B_chr22_44876162_45015005 | 45007694 | CGGGTGTG others(19): Show |
C | intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0005 | a0001c0005t0041 | a0001c0005t0041g0164 | 1 | 300 | 0.0033 | -26 | c.120 others(41): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | |||||||
PHIP_chr6_78929419_79083254 | 79043705 | ATCTAAAT others(19): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG03098.hp2 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0007 | a0002c0002t0003g0041 a0002c0002t0003g0042 a0002c0002t0007g0044 |
3 | 318 | 0.0094 | -26 | c.440 others(41): Show |
PHIP | ENSG00000146247.15 | transcript | ENST00000275034.5 | protein_coding | 6/39 | chr6 | TogoVar | |||||||
PHLDB1_chr11_118602615_118663028 | 118648269 | TTGTGTGT others(19): Show |
T | intron_variant | MODIFIER | HG03471.hp2 NA20129.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0010 | 2 | 356 | 0.0056 | -26 | c.365 others(43): Show |
PHLDB1 | ENSG00000019144.20 | transcript | ENST00000600882.6 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |