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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDE3B_chr11_14638804_14877044 | 14749899 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG02027.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0139a0001c0001t0001g0256a0001c0001t0002g0034others(9): Show | 12 | 332 | 0.0361 | 40 | c.979 others(59): Show |
PDE3B | ENSG00000152270.9 | transcript | ENST00000282096.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PDE4B_chr1_65787895_66379574 | 65887247 | T | TTTCTTTC others(33): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 | 1 | 118 | 0.0085 | 40 | c.-70 others(59): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PDE6A_chr5_149852953_149949793 | 149900375 | G | GTATATAT others(33): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 328 | 0.0031 | 40 | c.111 others(57): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 8/21 | chr5 | TogoVar | ||||||
PDE6A_chr5_149852953_149949793 | 149900375 | G | GTATATAT others(33): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02735.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0277a0001c0002t0001g0278 | 2 | 328 | 0.0061 | 40 | c.111 others(57): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 8/21 | chr5 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 510722 | G | GGGAGAGG others(33): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0107 | 1 | 302 | 0.0033 | 40 | c.453 others(53): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 4/5 | chr7 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 510767 | A | AGGAGGGG others(33): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0007 | a0001c0007t0088 | a0001c0007t0088g0204 | 1 | 302 | 0.0033 | 40 | c.453 others(53): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 4/5 | chr7 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39220461 | G | GGATGGAT others(33): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198 | 1 | 386 | 0.0026 | 40 | c.*48 others(51): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2897 | chr22 | TogoVar | ||||||
PDGFRA_chr4_54224293_54303245 | 54284577 | A | AGAGAGAG others(33): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0005 | a0002c0005t0022 | a0002c0005t0022g0011 | 1 | 300 | 0.0033 | 40 | c.232 others(57): Show |
PDGFRA | ENSG00000134853.12 | transcript | ENST00000257290.10 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDIA5_chr3_123062025_123167104 | 123117374 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02132.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140a0001c0001t0001g0206 | 2 | 332 | 0.0060 | 40 | c.609 others(57): Show |
PDIA5 | ENSG00000065485.20 | transcript | ENST00000316218.12 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PDIA5_chr3_123062025_123167104 | 123151782 | G | GGCCTGCC others(33): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0284 | 1 | 332 | 0.0030 | 40 | c.127 others(59): Show |
PDIA5 | ENSG00000065485.20 | transcript | ENST00000316218.12 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PDIA6_chr2_10778391_10817785 | 10806628 | C | CAGACAGA others(33): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0145 | 1 | 342 | 0.0029 | 40 | c.20- others(55): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
PDIA6_chr2_10778391_10817785 | 10806628 | C | CAGACAGA others(33): Show |
intron_variant | MODIFIER | HG01943.hp1 NA19030.hp2 |
a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0138a0001c0005t0003g0254 | 2 | 342 | 0.0059 | 40 | c.20- others(55): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
PDILT_chr16_20354175_20409737 | 20402290 | A | ATCTTTTC others(33): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0187 | 1 | 406 | 0.0025 | 40 | c.-8+ others(55): Show |
PDILT | ENSG00000169340.10 | transcript | ENST00000302451.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
PDLIM1_chr10_95232572_95296003 | 95256994 | G | GAAAGAAA others(33): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0306 | 1 | 338 | 0.0030 | 40 | c.533 others(57): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 4/6 | chr10 | TogoVar | ||||||
PDLIM1_chr10_95232572_95296003 | 95257038 | G | GAAAGAAA others(33): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02647.hp2 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0057a0001c0001t0001g0178a0001c0001t0005g0216 | 3 | 338 | 0.0089 | 40 | c.533 others(57): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 4/6 | chr10 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39909040 | A | AAAAATAA others(33): Show |
intron_variant | MODIFIER | HG02109.hp2 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0132a0001c0002t0003g0162 | 2 | 356 | 0.0056 | 40 | c.108 others(57): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 10/32 | chr4 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32655374 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 334 | 0.0030 | 40 | c.313 others(57): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PDS5B_chr13_32581452_32783019 | 32655374 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 334 | 0.0030 | 40 | c.313 others(57): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PDS5B_chr13_32581452_32783019 | 32655374 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 334 | 0.0030 | 40 | c.313 others(57): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PDSS1_chr10_26692701_26751798 | 26693079 | T | TTATATAT others(33): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG01074.hp2 HG02155.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0040a0001c0001t0001g0047others(9): Show | 12 | 416 | 0.0289 | 40 | c.-46 others(51): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 4621 | chr10 | TogoVar | ||||||
PDSS1_chr10_26692701_26751798 | 26693079 | T | TTTTATAT others(33): Show |
upstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 416 | 0.0024 | 40 | c.-46 others(51): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 4621 | chr10 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107458412 | C | CAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 260 | 0.0039 | 40 | c.296 others(55): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31689353 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0003 | a0003c0004 | a0003c0004t0026 | a0003c0004t0026g0065 | 1 | 216 | 0.0046 | 40 | c.-36 others(61): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZK1IP1_chr1_47178582_47195036 | 47191928 | C | CGGGGTGT others(33): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023 | 1 | 426 | 0.0024 | 40 | c.-19 others(51): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 1893 | chr1 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41317048 | G | GTATACAT others(33): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0123 | 1 | 206 | 0.0049 | 40 | c.843 others(61): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PEBP1_chr12_118131124_118150584 | 118133194 | A | ATTATTTT others(33): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024 | 1 | 426 | 0.0024 | 40 | c.-30 others(51): Show |
PEBP1 | ENSG00000089220.5 | transcript | ENST00000261313.3 | protein_coding | 2929 | chr12 | TogoVar | ||||||
PEBP4_chr8_22708251_22932914 | 22728555 | T | TCTTCCTT others(33): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0008 | a0008c0010 | a0008c0010t0004 | a0008c0010t0004g0182 | 1 | 278 | 0.0036 | 40 | c.358 others(57): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | ||||||
PEBP4_chr8_22708251_22932914 | 22728559 | T | TCTTCCTT others(33): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0008 | a0008c0010 | a0008c0010t0004 | a0008c0010t0004g0190 | 1 | 278 | 0.0036 | 40 | c.358 others(57): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | ||||||
PECAM1_chr17_64314415_64395860 | 64377613 | A | AAAGGAAG others(33): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0018 | 1 | 288 | 0.0035 | 40 | c.385 others(55): Show |
PECAM1 | ENSG00000261371.6 | transcript | ENST00000563924.6 | protein_coding | 3/15 | chr17 | TogoVar | ||||||
PECAM1_chr17_64314415_64395860 | 64377617 | A | AAAGGAAG others(33): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01070.hp1 others(35): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0029a0001c0001t0001g0030others(34): Show | 38 | 288 | 0.1319 | 40 | c.385 others(55): Show |
PECAM1 | ENSG00000261371.6 | transcript | ENST00000563924.6 | protein_coding | 3/15 | chr17 | TogoVar | ||||||
PERP_chr6_138083505_138112419 | 138086314 | A | AATATATA others(33): Show |
downstream_gene_variant | MODIFIER | NA18969.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0020 | 1 | 430 | 0.0023 | 40 | c.*57 others(51): Show |
PERP | ENSG00000112378.12 | transcript | ENST00000421351.4 | protein_coding | 2190 | chr6 | TogoVar | ||||||
PEX11B_chr1_145906350_145923717 | 145909445 | C | CTATATAA others(33): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 HG03831.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0032a0001c0001t0001g0070 | 3 | 368 | 0.0082 | 40 | c.*26 others(51): Show |
PEX11B | ENSG00000131779.11 | transcript | ENST00000369306.8 | protein_coding | 1904 | chr1 | TogoVar | ||||||
PEX11G_chr19_7471875_7494035 | 7474080 | T | TGTAATCC others(33): Show |
downstream_gene_variant | MODIFIER | NA18943.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0002 | 1 | 416 | 0.0024 | 40 | c.*31 others(51): Show |
PEX11G | ENSG00000104883.8 | transcript | ENST00000221480.6 | protein_coding | 2794 | chr19 | TogoVar | ||||||
PEX5L_chr3_179789958_180041937 | 180024347 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0063 | 1 | 220 | 0.0046 | 40 | c.21+ others(57): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
PFKFB3_chr10_6197932_6240532 | 6206807 | G | GGCCGGGC others(33): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0027 | 1 | 432 | 0.0023 | 40 | c.76+ others(55): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3062688 | C | CATTCATT others(33): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0065 | 1 | 402 | 0.0025 | 40 | c.-49 others(51): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 4859 | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3106606 | C | CTCGCCCC others(33): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(154): Show |
a0001a0003a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0002g0006a0001c0001t0002g0022a0001c0001t0002g0036others(154): Show | 157 | 402 | 0.3906 | 40 | c.775 others(55): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PGBD5_chr1_230309490_230431332 | 230315917 | T | TGTATATG others(33): Show |
3_prime_UTR_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0161 | 1 | 288 | 0.0035 | 40 | c.*74 others(51): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 7/7 | 7507 | chr1 | TogoVar | |||||
PGBD5_chr1_230309490_230431332 | 230315935 | T | TATGTATG others(33): Show |
3_prime_UTR_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0123 | a0001c0002t0123g0110 | 1 | 288 | 0.0035 | 40 | c.*74 others(51): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 7/7 | 7489 | chr1 | TogoVar | |||||
PGPEP1_chr19_18335598_18374950 | 18364079 | G | GCTTTCTT others(33): Show |
3_prime_UTR_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0272 | a0001c0001t0272g0117 | 1 | 412 | 0.0024 | 40 | c.*49 others(49): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 5/5 | 499 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
PGPEP1_chr19_18335598_18374950 | 18364083 | G | GCTTTCTT others(33): Show |
3_prime_UTR_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0262 | a0001c0001t0262g0040 | 1 | 412 | 0.0024 | 40 | c.*53 others(49): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 5/5 | 532 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
PGPEP1_chr19_18335598_18374950 | 18364083 | G | GCTTTTCT others(33): Show |
3_prime_UTR_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0199 | 1 | 412 | 0.0024 | 40 | c.*50 others(49): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 5/5 | 505 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
PGPEP1_chr19_18335598_18374950 | 18364103 | T | TCTTTCTT others(33): Show |
3_prime_UTR_variant | MODIFIER | HG02897.hp1 HG03453.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0143a0001c0001t0222a0001c0001t0223 | a0001c0001t0143g0181a0001c0001t0222g0019a0001c0001t0223g0122 | 3 | 412 | 0.0073 | 40 | c.*53 others(49): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 5/5 | 532 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
PHACTR1_chr6_12711767_13292837 | 13000614 | G | GAGGAAGG others(33): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 108 | 0.0093 | 40 | c.251 others(59): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59668870 | T | TTTTTATT others(33): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 250 | 0.0040 | 40 | c.118 others(59): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59821975 | G | GCAGCGAT others(33): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0037a0001c0001t0003g0128 | 2 | 250 | 0.0080 | 40 | c.132 others(61): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59821980 | G | GATCCCAC others(33): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012 | a0001c0001t0004g0197a0001c0001t0012g0006 | 2 | 250 | 0.0080 | 40 | c.132 others(61): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59821980 | G | GATCCCAC others(33): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02622.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0200a0001c0001t0002g0072a0001c0001t0003g0130others(3): Show | 6 | 250 | 0.0240 | 40 | c.132 others(61): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59822000 | A | AATCCCAC others(33): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG02165.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0016 | a0001c0001t0001g0014a0001c0001t0001g0025a0001c0001t0001g0036others(5): Show | 8 | 250 | 0.0320 | 40 | c.132 others(61): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59822000 | A | AATCCCAC others(33): Show |
intron_variant | MODIFIER | HG01928.hp2 HG02015.hp1 HG02486.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0109a0001c0001t0001g0116a0001c0001t0001g0142others(4): Show | 7 | 250 | 0.0280 | 40 | c.132 others(61): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |