| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PLIN4_chr19_4497192_4523486 | 4509310 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18966.hp2 NA19091.hp1 |
a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0038 | 2 | 412 | 0.0049 | 30 | c.351 others(47): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/7 | chr19 | TogoVar | ||||||
| PLK3_chr1_44795377_44810990 | 44795660 | A | AATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(41): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0010others(7): Show | 44 | 384 | 0.1146 | 30 | c.-48 others(41): Show |
PLK3 | ENSG00000173846.13 | transcript | ENST00000372201.5 | protein_coding | 4716 | chr1 | TogoVar | ||||||
| PLK3_chr1_44795377_44810990 | 44795754 | A | AATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 384 | 0.0026 | 30 | c.-47 others(41): Show |
PLK3 | ENSG00000173846.13 | transcript | ENST00000372201.5 | protein_coding | 4622 | chr1 | TogoVar | ||||||
| PLK3_chr1_44795377_44810990 | 44795764 | A | AATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 384 | 0.0026 | 30 | c.-47 others(41): Show |
PLK3 | ENSG00000173846.13 | transcript | ENST00000372201.5 | protein_coding | 4612 | chr1 | TogoVar | ||||||
| PLK3_chr1_44795377_44810990 | 44797983 | A | AAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 | 1 | 384 | 0.0026 | 30 | c.-24 others(41): Show |
PLK3 | ENSG00000173846.13 | transcript | ENST00000372201.5 | protein_coding | 2393 | chr1 | TogoVar | ||||||
| PLK3_chr1_44795377_44810990 | 44797983 | A | AAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 | 1 | 384 | 0.0026 | 30 | c.-24 others(41): Show |
PLK3 | ENSG00000173846.13 | transcript | ENST00000372201.5 | protein_coding | 2393 | chr1 | TogoVar | ||||||
| PLK3_chr1_44795377_44810990 | 44797983 | A | AAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | NA18939.hp2 NA19068.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 2 | 384 | 0.0052 | 30 | c.-24 others(41): Show |
PLK3 | ENSG00000173846.13 | transcript | ENST00000372201.5 | protein_coding | 2393 | chr1 | TogoVar | ||||||
| PLK3_chr1_44795377_44810990 | 44797983 | A | AAAAAATA others(23): Show |
upstream_gene_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 1 | 384 | 0.0026 | 30 | c.-24 others(41): Show |
PLK3 | ENSG00000173846.13 | transcript | ENST00000372201.5 | protein_coding | 2393 | chr1 | TogoVar | ||||||
| PLK3_chr1_44795377_44810990 | 44797983 | A | AAAATATA others(23): Show |
upstream_gene_variant | MODIFIER | NA18948.hp2 NA19057.hp2 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 3 | 384 | 0.0078 | 30 | c.-24 others(41): Show |
PLK3 | ENSG00000173846.13 | transcript | ENST00000372201.5 | protein_coding | 2393 | chr1 | TogoVar | ||||||
| PLOD1_chr1_11929717_11980537 | 11967595 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00735.hp1 HG03927.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0166a0002c0003t0001g0206a0002c0003t0001g0275others(3): Show | 6 | 380 | 0.0158 | 30 | c.175 others(47): Show |
PLOD1 | ENSG00000083444.17 | transcript | ENST00000196061.5 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PLOD1_chr1_11929717_11980537 | 11967597 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01243.hp2 HG01884.hp2 others(5): Show |
a0001a0003 | a0001c0002a0003c0005a0003c0007 | a0001c0002t0001a0003c0005t0001a0003c0007t0003 | a0001c0002t0001g0139a0001c0002t0001g0163a0001c0002t0001g0220others(5): Show | 8 | 380 | 0.0211 | 30 | c.175 others(47): Show |
PLOD1 | ENSG00000083444.17 | transcript | ENST00000196061.5 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PLOD1_chr1_11929717_11980537 | 11967597 | G | GTGTATAT others(23): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02027.hp2 HG02451.hp2 |
a0001a0003 | a0001c0002a0003c0004a0003c0016 | a0001c0002t0001a0003c0004t0001a0003c0016t0001 | a0001c0002t0001g0185a0003c0004t0001g0131a0003c0016t0001g0325 | 3 | 380 | 0.0079 | 30 | c.175 others(47): Show |
PLOD1 | ENSG00000083444.17 | transcript | ENST00000196061.5 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PLPP1_chr5_55419854_55539964 | 55444741 | T | TTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 294 | 0.0034 | 30 | c.492 others(47): Show |
PLPP1 | ENSG00000067113.17 | transcript | ENST00000307259.9 | protein_coding | 3/5 | chr5 | TogoVar | ||||||
| PLPP3_chr1_56489761_56584563 | 56518715 | T | TTTTATAT others(23): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 336 | 0.0030 | 30 | c.633 others(47): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 4/5 | chr1 | TogoVar | ||||||
| PLPP3_chr1_56489761_56584563 | 56538959 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0225 | 1 | 336 | 0.0030 | 30 | c.140 others(47): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
| PLPP3_chr1_56489761_56584563 | 56557036 | G | GAAAGAAA others(23): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0281 | 1 | 336 | 0.0030 | 30 | c.140 others(49): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
| PLPPR1_chr9_101023727_101330135 | 101078087 | G | GAGGAGAA others(23): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02976.hp2 HG04204.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0154a0001c0001t0001g0157a0001c0001t0001g0165others(4): Show | 7 | 203 | 0.0345 | 30 | c.-46 others(49): Show |
PLPPR1 | ENSG00000148123.15 | transcript | ENST00000374874.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PLPPR1_chr9_101023727_101330135 | 101078102 | G | GAGAAGGA others(23): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0076 | 1 | 203 | 0.0049 | 30 | c.-46 others(49): Show |
PLPPR1 | ENSG00000148123.15 | transcript | ENST00000374874.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PLPPR1_chr9_101023727_101330135 | 101167141 | G | GGGGTGTG others(23): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0185 | 1 | 203 | 0.0049 | 30 | c.-45 others(49): Show |
PLPPR1 | ENSG00000148123.15 | transcript | ENST00000374874.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PLPPR1_chr9_101023727_101330135 | 101167141 | G | GGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 203 | 0.0049 | 30 | c.-45 others(49): Show |
PLPPR1 | ENSG00000148123.15 | transcript | ENST00000374874.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PLPPR1_chr9_101023727_101330135 | 101316616 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG01255.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0002g0001a0001c0001t0002g0010a0001c0001t0002g0020others(21): Show | 24 | 203 | 0.1182 | 30 | c.814 others(45): Show |
PLPPR1 | ENSG00000148123.15 | transcript | ENST00000374874.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PLPPR3_chr19_807488_826955 | 814169 | A | ACCCTGGG others(23): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02647.hp2 HG02922.hp1 others(4): Show |
a0004 | a0004c0006 | a0004c0006t0001a0004c0006t0003 | a0004c0006t0001g0009a0004c0006t0003g0046 | 7 | 398 | 0.0176 | 30 | c.831 others(45): Show |
PLPPR3 | ENSG00000129951.19 | transcript | ENST00000520876.8 | protein_coding | 7/7 | chr19 | TogoVar | ||||||
| PLPPR5_chr1_98885245_99009861 | 98920593 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0091 | 1 | 280 | 0.0036 | 30 | c.798 others(47): Show |
PLPPR5 | ENSG00000117598.14 | transcript | ENST00000263177.5 | protein_coding | 4/5 | chr1 | TogoVar | ||||||
| PLPPR5_chr1_98885245_99009861 | 98928548 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00673.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0039a0001c0001t0001g0051a0001c0001t0001g0179others(8): Show | 11 | 280 | 0.0393 | 30 | c.622 others(47): Show |
PLPPR5 | ENSG00000117598.14 | transcript | ENST00000263177.5 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
| PLS1_chr3_142591393_142718664 | 142600916 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 276 | 0.0036 | 30 | c.-37 others(47): Show |
PLS1 | ENSG00000120756.13 | transcript | ENST00000457734.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PLVAP_chr19_17346455_17382342 | 17382276 | A | AAGAAAGA others(23): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 HG01258.hp1 HG01346.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0272a0001c0001t0001g0308others(6): Show | 9 | 436 | 0.0206 | 30 | c.-49 others(41): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 4935 | chr19 | TogoVar | ||||||
| PLXDC2_chr10_19811432_20294856 | 20129529 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03017.hp1 NA18959.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0004a0003c0003t0008 | a0002c0002t0004g0111a0003c0003t0008g0114 | 2 | 180 | 0.0111 | 30 | c.542 others(49): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PLXDC2_chr10_19811432_20294856 | 20238668 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0110 | 1 | 180 | 0.0056 | 30 | c.131 others(49): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PLXDC2_chr10_19811432_20294856 | 20238668 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG03098.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0055a0001c0001t0071 | a0001c0001t0055g0024a0001c0001t0071g0074 | 2 | 180 | 0.0111 | 30 | c.131 others(49): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PLXDC2_chr10_19811432_20294856 | 20238668 | T | TATATATG others(23): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02559.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0046a0001c0001t0087others(1): Show | a0001c0001t0001g0132a0001c0001t0046g0008a0001c0001t0087g0095others(1): Show | 4 | 180 | 0.0222 | 30 | c.131 others(49): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PLXDC2_chr10_19811432_20294856 | 20238679 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0076 | 1 | 180 | 0.0056 | 30 | c.131 others(49): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PLXDC2_chr10_19811432_20294856 | 20238687 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03041.hp1 |
a0002 | a0002c0002 | a0002c0002t0019a0002c0002t0026 | a0002c0002t0019g0102a0002c0002t0026g0159 | 2 | 180 | 0.0111 | 30 | c.131 others(49): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PLXDC2_chr10_19811432_20294856 | 20284330 | T | TATATATA others(23): Show |
3_prime_UTR_variant | MODIFIER | HG02809.hp1 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0066a0001c0001t0122 | a0001c0001t0066g0170a0001c0001t0122g0051 | 2 | 180 | 0.0111 | 30 | c.*45 others(41): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 14/14 | 4513 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
| PLXNA4_chr7_132118340_132581470 | 132365360 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 88 | 0.0114 | 30 | c.137 others(51): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 3/31 | chr7 | TogoVar | ||||||
| PLXNA4_chr7_132118340_132581470 | 132562930 | C | CCCTCCTC others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG01081.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0004a0001c0003t0002others(10): Show | a0001c0001t0001g0019a0001c0001t0001g0038a0001c0002t0004g0025others(13): Show | 16 | 88 | 0.1818 | 30 | c.-87 others(49): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 1/31 | chr7 | TogoVar | ||||||
| PM20D1_chr1_205823025_205855132 | 205853436 | A | AATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG01256.hp1 others(18): Show |
a0002a0004a0011others(2): Show | a0002c0001a0002c0009a0002c0016others(5): Show | a0002c0001t0001a0002c0001t0002a0002c0009t0001others(6): Show | a0002c0001t0001g0169a0002c0001t0001g0170a0002c0001t0002g0001others(15): Show | 21 | 416 | 0.0505 | 30 | c.-33 others(41): Show |
PM20D1 | ENSG00000162877.13 | transcript | ENST00000367136.5 | protein_coding | 3305 | chr1 | TogoVar | ||||||
| PM20D1_chr1_205823025_205855132 | 205853447 | A | ATATATAT others(23): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 HG03579.hp2 |
a0002a0009 | a0002c0009a0009c0011 | a0002c0009t0001a0009c0011t0001 | a0002c0009t0001g0028a0009c0011t0001g0125 | 2 | 416 | 0.0048 | 30 | c.-33 others(41): Show |
PM20D1 | ENSG00000162877.13 | transcript | ENST00000367136.5 | protein_coding | 3316 | chr1 | TogoVar | ||||||
| PM20D2_chr6_89141055_89170565 | 89141977 | A | ATTTATTT others(23): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00639.hp2 HG00733.hp2 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021 | a0001c0001t0003g0002a0001c0001t0003g0008a0001c0001t0003g0016others(18): Show | 56 | 372 | 0.1505 | 30 | c.-41 others(41): Show |
PM20D2 | ENSG00000146281.6 | transcript | ENST00000275072.5 | protein_coding | 4077 | chr6 | TogoVar | ||||||
| PMM2_chr16_8792839_8854325 | 8827859 | T | TATATATT others(23): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02559.hp1 HG02615.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009 | a0001c0001t0006g0024a0001c0001t0006g0025a0001c0001t0006g0026others(2): Show | 5 | 408 | 0.0123 | 30 | c.639 others(49): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0075 | 1 | 408 | 0.0025 | 30 | c.-95 others(39): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | ||||||
| PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0115 | 1 | 408 | 0.0025 | 30 | c.-95 others(39): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | ||||||
| PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 NA20129.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0032a0001c0003t0001 | a0001c0002t0032g0064a0001c0003t0001g0004 | 2 | 408 | 0.0049 | 30 | c.-95 others(39): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | ||||||
| PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 NA20752.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0039 | a0001c0003t0001g0070a0001c0003t0039g0277 | 2 | 408 | 0.0049 | 30 | c.-95 others(39): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | ||||||
| PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAAATA others(23): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 | 1 | 408 | 0.0025 | 30 | c.-95 others(39): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | ||||||
| PMS2_chr7_5965925_6014049 | 6009974 | A | AAAATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0003 | 1 | 408 | 0.0025 | 30 | c.-95 others(39): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | ||||||
| PNKD_chr2_218265519_218351793 | 218315038 | T | TTCTTTCT others(23): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02615.hp1 HG03098.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(1): Show | a0001c0001t0001g0087a0001c0001t0001g0093a0001c0001t0001g0260others(3): Show | 6 | 280 | 0.0214 | 30 | c.237 others(49): Show |
PNKD | ENSG00000127838.15 | transcript | ENST00000273077.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PNLIPRP1_chr10_116585959_116614175 | 116599256 | G | GAAAATAA others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01081.hp2 others(24): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0004c0005others(2): Show | a0001c0001t0001a0001c0002t0001a0004c0005t0001others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0032a0001c0001t0001g0106others(13): Show | 27 | 420 | 0.0643 | 30 | c.815 others(45): Show |
PNLIPRP1 | ENSG00000187021.15 | transcript | ENST00000358834.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PNMA6E_chrX_153390639_153406350 | 153399278 | A | ATATTGAT others(23): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0016 | a0016c0020 | a0016c0020t0021 | a0016c0020t0021g0139 | 1 | 346 | 0.0029 | 30 | c.-71 others(45): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 1/1 | chrX | TogoVar | ||||||
| PNMA8A_chr19_46461503_46476563 | 46473260 | G | GTTTTTTT others(23): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0007 | 1 | 454 | 0.0022 | 30 | c.-20 others(41): Show |
PNMA8A | ENSG00000182013.18 | transcript | ENST00000313683.15 | protein_coding | 1698 | chr19 | TogoVar | ||||||
| PNOC_chr8_28312268_28348351 | 28330362 | C | CTTTATTT others(23): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0202 | 1 | 424 | 0.0024 | 30 | c.126 others(47): Show |
PNOC | ENSG00000168081.9 | transcript | ENST00000301908.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |