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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDXK_chr21_43714129_43767299 | 43741151 | G | GCGGGGGG others(25): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0189 | 1 | 358 | 0.0028 | 32 | c.143 others(47): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741165 | G | GGGGGGCT others(25): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01074.hp1 |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0074 | a0001c0001t0030g0013a0001c0001t0030g0015a0001c0001t0074g0014 | 3 | 358 | 0.0084 | 32 | c.143 others(47): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43741200 | G | GGGGGGCT others(25): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0346 | 1 | 358 | 0.0028 | 32 | c.143 others(47): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43741280 | G | GGGGGGCT others(25): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0269 | 1 | 358 | 0.0028 | 32 | c.143 others(47): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43741292 | G | GGGGGGCT others(25): Show |
intron_variant | MODIFIER | NA19003.hp1 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130a0001c0001t0002g0154 | 2 | 358 | 0.0056 | 32 | c.143 others(47): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43755172 | T | TTGACTCT others(25): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0250a0001c0001t0005g0251 | 2 | 358 | 0.0056 | 32 | c.760 others(47): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31689353 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 216 | 0.0046 | 32 | c.-36 others(53): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31689353 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0003 | a0003c0004 | a0003c0004t0027 | a0003c0004t0027g0101 | 1 | 216 | 0.0046 | 32 | c.-36 others(53): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31694792 | T | TTATTTTA others(25): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0005 | a0001c0005t0048 | a0001c0005t0048g0002 | 1 | 216 | 0.0046 | 32 | c.-36 others(53): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31837016 | A | AAAAGAAA others(25): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0032 | a0032c0061 | a0032c0061t0016 | a0032c0061t0016g0193 | 1 | 216 | 0.0046 | 32 | c.476 others(51): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD4_chrX_153797166_153835544 | 153830174 | C | CGCGGGAT others(25): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0203 | 1 | 281 | 0.0036 | 32 | c.60+ others(43): Show |
PDZD4 | ENSG00000067840.13 | transcript | ENST00000393758.7 | protein_coding | 1/7 | chrX | TogoVar | ||||||
PDZRN3_chr3_73377431_73629941 | 73563013 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0073 | 1 | 216 | 0.0046 | 32 | c.918 others(51): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41241429 | T | TAAAAATC others(25): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02922.hp2 HG03130.hp1 others(5): Show |
a0002a0005a0008 | a0002c0017a0002c0027a0002c0030others(3): Show | a0002c0017t0001a0002c0017t0002a0002c0027t0001others(4): Show | a0002c0017t0001g0092a0002c0017t0002g0019a0002c0017t0002g0091others(5): Show | 8 | 206 | 0.0388 | 32 | c.843 others(51): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDZRN4_chr12_41183320_41579745 | 41317048 | G | GTATACAT others(25): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01256.hp1 HG01258.hp1 others(3): Show |
a0001a0003a0004 | a0001c0004a0003c0005a0003c0006others(1): Show | a0001c0004t0001a0003c0005t0001a0003c0006t0001others(1): Show | a0001c0004t0001g0077a0001c0004t0001g0078a0003c0005t0001g0074others(3): Show | 6 | 206 | 0.0291 | 32 | c.843 others(53): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDZRN4_chr12_41183320_41579745 | 41317048 | G | GTATACAT others(25): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0082 | 1 | 206 | 0.0049 | 32 | c.843 others(53): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PEAK1_chr15_77103158_77425104 | 77313704 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0312 | 1 | 326 | 0.0031 | 32 | c.-60 others(53): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 2/9 | chr15 | TogoVar | ||||||
PEBP1_chr12_118131124_118150584 | 118133225 | T | TCATTTCA others(25): Show |
upstream_gene_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0002 | 1 | 426 | 0.0024 | 32 | c.-29 others(43): Show |
PEBP1 | ENSG00000089220.5 | transcript | ENST00000261313.3 | protein_coding | 2898 | chr12 | TogoVar | ||||||
PEBP4_chr8_22708251_22932914 | 22728559 | T | TCTTCCTT others(25): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0008 | a0008c0010 | a0008c0010t0004 | a0008c0010t0004g0189 | 1 | 278 | 0.0036 | 32 | c.358 others(49): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | ||||||
PEBP4_chr8_22708251_22932914 | 22728559 | T | TCTTTCTT others(25): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0005 | a0005c0032 | a0005c0032t0005 | a0005c0032t0005g0031 | 1 | 278 | 0.0036 | 32 | c.358 others(49): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | ||||||
PECAM1_chr17_64314415_64395860 | 64377617 | A | AAAGGAAG others(25): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01256.hp2 HG01346.hp1 others(10): Show |
a0001a0003 | a0001c0001a0003c0005a0003c0007 | a0001c0001t0001a0001c0001t0005a0003c0005t0004others(1): Show | a0001c0001t0001g0167a0001c0001t0001g0228a0001c0001t0001g0229others(9): Show | 13 | 288 | 0.0451 | 32 | c.385 others(47): Show |
PECAM1 | ENSG00000261371.6 | transcript | ENST00000563924.6 | protein_coding | 3/15 | chr17 | TogoVar | ||||||
PEPD_chr19_33381950_33526791 | 33422818 | A | ATATCTAT others(25): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0115 | 1 | 314 | 0.0032 | 32 | c.672 others(49): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 9/14 | chr19 | TogoVar | ||||||
PEPD_chr19_33381950_33526791 | 33485491 | T | TAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 314 | 0.0032 | 32 | c.503 others(49): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 6/14 | chr19 | TogoVar | ||||||
PER1_chr17_8135472_8157404 | 8141688 | T | TCCCTTGA others(25): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0135 | 1 | 426 | 0.0024 | 32 | c.360 others(48): Show |
PER1 | ENSG00000179094.16 | transcript | ENST00000317276.9 | protein_coding | 22/22 | chr17 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7815991 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0094 | 1 | 410 | 0.0024 | 32 | c.152 others(51): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PERM1_chr1_970198_987093 | 974418 | A | ACACATCT others(25): Show |
downstream_gene_variant | MODIFIER | HG02083.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 | 1 | 408 | 0.0025 | 32 | c.*17 others(43): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 779 | chr1 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 976708 | A | ACCCCCAC others(25): Show |
intron_variant | MODIFIER | HG01884.hp1 NA18522.hp1 |
a0002 | a0002c0005 | a0002c0005t0005a0002c0005t0009 | a0002c0005t0005g0222a0002c0005t0009g0190 | 2 | 408 | 0.0049 | 32 | c.215 others(47): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 976714 | A | ACCAACCC others(25): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0005 | a0005c0006 | a0005c0006t0004 | a0005c0006t0004g0220 | 1 | 408 | 0.0025 | 32 | c.215 others(48): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 976938 | G | GCCAACCC others(25): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01433.hp1 |
a0005a0017 | a0005c0006a0017c0029 | a0005c0006t0005a0017c0029t0001 | a0005c0006t0005g0218a0017c0029t0001g0086 | 2 | 408 | 0.0049 | 32 | c.215 others(49): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977001 | G | GCAACCCC others(25): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143a0001c0001t0001g0167a0001c0001t0001g0175 | 3 | 408 | 0.0074 | 32 | c.215 others(49): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977084 | C | CCCACTCC others(25): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0241 | 1 | 408 | 0.0025 | 32 | c.215 others(49): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977096 | G | GCAACCCC others(25): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02630.hp2 others(4): Show |
a0002a0005 | a0002c0005a0005c0006 | a0002c0005t0008a0005c0006t0005 | a0002c0005t0008g0046a0005c0006t0005g0212a0005c0006t0005g0215others(3): Show | 7 | 408 | 0.0172 | 32 | c.215 others(49): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977247 | C | CTCCCCCC others(25): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG01106.hp2 others(6): Show |
a0001a0006 | a0001c0001a0001c0007a0006c0008 | a0001c0001t0001a0001c0001t0017a0001c0007t0001others(1): Show | a0001c0001t0001g0143a0001c0001t0001g0163a0001c0001t0001g0165others(4): Show | 9 | 408 | 0.0221 | 32 | c.215 others(49): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977247 | C | CTCCCCCC others(25): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02970.hp1 HG03041.hp2 others(1): Show |
a0002 | a0002c0002a0002c0009 | a0002c0002t0002a0002c0009t0002 | a0002c0002t0002g0048a0002c0002t0002g0244a0002c0009t0002g0260 | 4 | 408 | 0.0098 | 32 | c.215 others(49): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977316 | G | GCAACCCC others(25): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02280.hp1 others(4): Show |
a0002a0005 | a0002c0005a0005c0006 | a0002c0005t0005a0005c0006t0004a0005c0006t0005 | a0002c0005t0005g0045a0002c0005t0005g0225a0002c0005t0005g0226others(3): Show | 7 | 408 | 0.0172 | 32 | c.215 others(49): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977604 | C | GCAACCCC others(25): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0013 | 1 | 408 | 0.0025 | 32 | c.215 others(49): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977677 | G | GGAACCGC others(25): Show |
intron_variant | MODIFIER | HG02559.hp1 NA18957.hp2 NA19005.hp1 |
a0002a0005a0021 | a0002c0002a0005c0006a0021c0024 | a0002c0002t0002a0005c0006t0005a0021c0024t0002 | a0002c0002t0002g0254a0005c0006t0005g0213a0021c0024t0002g0239 | 3 | 408 | 0.0074 | 32 | c.215 others(51): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977844 | C | CCCACCAA others(25): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0089 | 1 | 408 | 0.0025 | 32 | c.214 others(51): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PERP_chr6_138083505_138112419 | 138086314 | A | AATATATA others(25): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG01261.hp2 HG01433.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0009a0001c0001t0018others(4): Show | a0001c0001t0004g0010a0001c0001t0004g0193a0001c0001t0009g0013others(6): Show | 10 | 430 | 0.0233 | 32 | c.*57 others(43): Show |
PERP | ENSG00000112378.12 | transcript | ENST00000421351.4 | protein_coding | 2190 | chr6 | TogoVar | ||||||
PET100_chr19_7624793_7636956 | 7627395 | C | CGGAGGGC others(25): Show |
upstream_gene_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 402 | 0.0025 | 32 | c.-24 others(43): Show |
PET100 | ENSG00000229833.11 | transcript | ENST00000594797.6 | protein_coding | 2397 | chr19 | TogoVar | ||||||
PEX11G_chr19_7471875_7494035 | 7474754 | A | AGTGTGTG others(25): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 1 | 416 | 0.0024 | 32 | c.*24 others(43): Show |
PEX11G | ENSG00000104883.8 | transcript | ENST00000221480.6 | protein_coding | 2120 | chr19 | TogoVar | ||||||
PEX5L_chr3_179789958_180041937 | 180024347 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG02723.hp1 NA18941.hp1 NA18959.hp2 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0020a0001c0001t0022 | a0001c0001t0019g0089a0001c0001t0020g0080a0001c0001t0022g0118 | 3 | 220 | 0.0136 | 32 | c.21+ others(49): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
PEX5L_chr3_179789958_180041937 | 180024373 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0104 | 1 | 220 | 0.0046 | 32 | c.21+ others(49): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
PEX5L_chr3_179789958_180041937 | 180024373 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0079a0001c0001t0010g0097 | 2 | 220 | 0.0091 | 32 | c.21+ others(49): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7203229 | C | CACTAACT others(25): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02630.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0160a0001c0001t0008g0004a0001c0001t0008g0225others(1): Show | 9 | 428 | 0.0210 | 32 | c.847 others(47): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PEX5_chr12_7184686_7216459 | 7209608 | G | GCTGAGTC others(25): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(414): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0010others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(327): Show | 417 | 428 | 0.9743 | 32 | c.156 others(47): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PFKFB2_chr1_207048275_207082817 | 207061121 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02258.hp2 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0168a0001c0002t0007g0169 | 2 | 342 | 0.0059 | 32 | c.86- others(45): Show |
PFKFB2 | ENSG00000123836.15 | transcript | ENST00000367080.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PFKFB2_chr1_207048275_207082817 | 207061129 | C | CTATATAT others(25): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0003 | a0001c0003t0027 | a0001c0003t0027g0206 | 1 | 342 | 0.0029 | 32 | c.86- others(45): Show |
PFKFB2 | ENSG00000123836.15 | transcript | ENST00000367080.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PFKFB2_chr1_207048275_207082817 | 207076629 | A | ACTGACTG others(25): Show |
3_prime_UTR_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0099 | 1 | 342 | 0.0029 | 32 | c.*42 others(43): Show |
PFKFB2 | ENSG00000123836.15 | transcript | ENST00000367080.8 | protein_coding | 15/15 | 4287 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
PFKFB2_chr1_207048275_207082817 | 207076629 | A | ACTGACTG others(25): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(155): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(112): Show | 158 | 342 | 0.4620 | 32 | c.*42 others(43): Show |
PFKFB2 | ENSG00000123836.15 | transcript | ENST00000367080.8 | protein_coding | 15/15 | 4304 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
PFKP_chr10_3062548_3141802 | 3062574 | C | CTCACTCA others(25): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(259): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(46): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(87): Show | a0001c0001t0002g0006a0001c0001t0002g0022a0001c0001t0002g0036others(259): Show | 262 | 402 | 0.6517 | 32 | c.-50 others(43): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 4973 | chr10 | TogoVar |