view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRIM2_chr6_57312630_57651850 | 57542939 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01516.hp2 HG01934.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0222a0001c0001t0003g0155a0001c0001t0004g0154others(4): Show | 7 | 300 | 0.0233 | 18 | c.102 others(37): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRIM2_chr6_57312630_57651850 | 57639620 | A | ACACCTCT others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(216): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0040a0001c0001t0001g0041others(216): Show | 219 | 300 | 0.7300 | 18 | c.130 others(37): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRIMA1_chr14_93713298_93793485 | 93771049 | A | AGTGCATG others(11): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0013 | 1 | 397 | 0.0025 | 18 | c.229 others(35): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 3/4 | chr14 | TogoVar | |||||||
PRIMPOL_chr4_184644738_184699952 | 184676802 | T | TCCCCCTT others(11): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0014 | 1 | 328 | 0.0031 | 18 | c.845 others(35): Show |
PRIMPOL | ENSG00000164306.11 | transcript | ENST00000314970.11 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PRKAA1_chr5_40754389_40803374 | 40785837 | C | CAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 402 | 0.0025 | 18 | c.128 others(35): Show |
PRKAA1 | ENSG00000132356.12 | transcript | ENST00000397128.7 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
PRKAA1_chr5_40754389_40803374 | 40785878 | A | AGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0294 | 1 | 402 | 0.0025 | 18 | c.128 others(35): Show |
PRKAA1 | ENSG00000132356.12 | transcript | ENST00000397128.7 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
PRKAA1_chr5_40754389_40803374 | 40795004 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 402 | 0.0025 | 18 | c.127 others(35): Show |
PRKAA1 | ENSG00000132356.12 | transcript | ENST00000397128.7 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
PRKAA1_chr5_40754389_40803374 | 40795006 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02080.hp1 NA18977.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273a0001c0001t0001g0280a0001c0001t0001g0281others(1): Show | 4 | 402 | 0.0100 | 18 | c.127 others(35): Show |
PRKAA1 | ENSG00000132356.12 | transcript | ENST00000397128.7 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
PRKAA2_chr1_56640314_56720335 | 56655260 | T | TTATATAC others(11): Show |
intron_variant | MODIFIER | HG02523.hp1 HG02897.hp2 HG03139.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0045a0001c0003t0085 | a0001c0001t0001g0272a0001c0001t0045g0117a0001c0003t0085g0278 | 3 | 412 | 0.0073 | 18 | c.94+ others(33): Show |
PRKAA2 | ENSG00000162409.12 | transcript | ENST00000371244.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKAA2_chr1_56640314_56720335 | 56655280 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 412 | 0.0024 | 18 | c.94+ others(33): Show |
PRKAA2 | ENSG00000162409.12 | transcript | ENST00000371244.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKAA2_chr1_56640314_56720335 | 56655280 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0005 | a0001c0001t0003g0057a0001c0002t0005g0007 | 3 | 412 | 0.0073 | 18 | c.94+ others(33): Show |
PRKAA2 | ENSG00000162409.12 | transcript | ENST00000371244.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKAA2_chr1_56640314_56720335 | 56664855 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG01167.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0042a0001c0003t0044a0001c0003t0085others(1): Show | a0001c0003t0042g0282a0001c0003t0044g0274a0001c0003t0044g0280others(2): Show | 5 | 412 | 0.0121 | 18 | c.95- others(33): Show |
PRKAA2 | ENSG00000162409.12 | transcript | ENST00000371244.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKAA2_chr1_56640314_56720335 | 56697012 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01256.hp2 HG01257.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0012others(25): Show | a0001c0001t0002g0328a0001c0001t0002g0336a0001c0001t0008g0307others(28): Show | 33 | 412 | 0.0801 | 18 | c.788 others(33): Show |
PRKAA2 | ENSG00000162409.12 | transcript | ENST00000371244.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKACB_chr1_84139271_84243498 | 84180183 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00738.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0010a0001c0001t0001g0013a0001c0001t0001g0036others(30): Show | 35 | 320 | 0.1094 | 18 | c.249 others(33): Show |
PRKACB | ENSG00000142875.21 | transcript | ENST00000370685.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKACB_chr1_84139271_84243498 | 84180204 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0169 | 1 | 320 | 0.0031 | 18 | c.249 others(33): Show |
PRKACB | ENSG00000142875.21 | transcript | ENST00000370685.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKACB_chr1_84139271_84243498 | 84199115 | G | GCATATAT others(11): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01255.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0173a0001c0001t0017g0119 | 2 | 320 | 0.0063 | 18 | c.783 others(35): Show |
PRKACB | ENSG00000142875.21 | transcript | ENST00000370685.7 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151855488 | C | CCACACAC others(11): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 252 | 0.0040 | 18 | c.114 others(37): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151874525 | G | GATGTATA others(11): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0217 | 1 | 252 | 0.0040 | 18 | c.114 others(35): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151875562 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03486.hp2 HG03710.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0007a0001c0006t0003 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0002t0007g0144others(1): Show | 4 | 252 | 0.0159 | 18 | c.114 others(33): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKAR1A_chr17_68507430_68538431 | 68510159 | C | CAGAGAGA others(11): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG01516.hp2 HG01517.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0002g0007others(7): Show | 18 | 412 | 0.0437 | 18 | c.-23 others(29): Show |
PRKAR1A | ENSG00000108946.17 | transcript | ENST00000589228.6 | protein_coding | 2270 | chr17 | TogoVar | |||||||
PRKAR2B_chr7_107039705_107166811 | 107065313 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 282 | 0.0036 | 18 | c.308 others(35): Show |
PRKAR2B | ENSG00000005249.14 | transcript | ENST00000265717.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PRKAR2B_chr7_107039705_107166811 | 107066301 | G | GGGGTGTG others(11): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0174a0001c0007t0001g0175 | 2 | 282 | 0.0071 | 18 | c.308 others(35): Show |
PRKAR2B | ENSG00000005249.14 | transcript | ENST00000265717.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PRKAR2B_chr7_107039705_107166811 | 107126420 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02809.hp2 HG02897.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0152a0001c0001t0001g0261a0001c0002t0001g0105 | 3 | 282 | 0.0106 | 18 | c.397 others(35): Show |
PRKAR2B | ENSG00000005249.14 | transcript | ENST00000265717.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PRKAR2B_chr7_107039705_107166811 | 107161979 | G | GGTGTGTG others(11): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG03540.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0007a0001c0008 | a0001c0001t0001a0001c0007t0001a0001c0008t0001 | a0001c0001t0001g0051a0001c0007t0001g0172a0001c0008t0001g0001 | 3 | 282 | 0.0106 | 18 | c.*23 others(29): Show |
PRKAR2B | ENSG00000005249.14 | transcript | ENST00000265717.5 | protein_coding | 169 | chr7 | TogoVar | |||||||
PRKCA_chr17_66297613_66815743 | 66347941 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0008 | 1 | 178 | 0.0056 | 18 | c.205 others(37): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66406585 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02922.hp1 HG03017.hp1 |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0021a0001c0003t0012a0001c0005t0039 | a0001c0002t0021g0115a0001c0003t0012g0151a0001c0005t0039g0108 | 3 | 178 | 0.0169 | 18 | c.206 others(37): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66424565 | T | TCAGACAC others(11): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0176 | 1 | 178 | 0.0056 | 18 | c.206 others(37): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66424568 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0002a0001c0002t0026a0001c0006t0024 | a0001c0001t0002g0166a0001c0002t0026g0123a0001c0006t0024g0137 | 3 | 178 | 0.0169 | 18 | c.206 others(37): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66592343 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0049 | a0001c0002t0049g0145 | 1 | 178 | 0.0056 | 18 | c.289 others(37): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66798848 | G | GTGGTGGT others(11): Show |
intron_variant | MODIFIER | HG02809.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0061 | a0001c0001t0009g0092a0001c0001t0061g0154 | 2 | 178 | 0.0112 | 18 | c.185 others(37): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66799157 | G | GTGATGGT others(11): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0058 | 1 | 178 | 0.0056 | 18 | c.185 others(37): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66812993 | C | CTCTCTCT others(11): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0006 | a0001c0006t0053 | a0001c0006t0053g0091 | 1 | 178 | 0.0056 | 18 | c.*89 others(29): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 2251 | chr17 | TogoVar | |||||||
PRKCB_chr16_23830983_24225611 | 23866951 | T | TCTTCCTT others(11): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0057 | 1 | 148 | 0.0068 | 18 | c.205 others(37): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23882000 | T | TTCTTTCT others(11): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0082 | 1 | 148 | 0.0068 | 18 | c.205 others(37): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23911128 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01070.hp2 HG03225.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0023a0001c0006t0002 | a0001c0002t0023g0080a0001c0006t0002g0035 | 2 | 148 | 0.0135 | 18 | c.205 others(37): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 24021040 | C | CTTTCTTT others(11): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0068 | a0001c0002t0068g0050 | 1 | 148 | 0.0068 | 18 | c.289 others(37): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 24089789 | T | TCTCTCTC others(11): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0035 | a0001c0002t0035g0139 | 1 | 148 | 0.0068 | 18 | c.530 others(35): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 24096662 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0083 | 1 | 148 | 0.0068 | 18 | c.821 others(35): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 24096666 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0082 | 1 | 148 | 0.0068 | 18 | c.821 others(35): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 24158535 | T | TGTATATG others(11): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0126 | 1 | 148 | 0.0068 | 18 | c.123 others(37): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 24182872 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0018 | a0001c0018t0008 | a0001c0018t0008g0048 | 1 | 148 | 0.0068 | 18 | c.153 others(37): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 13/16 | chr16 | TogoVar | |||||||
PRKCB_chr16_23830983_24225611 | 24182873 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02055.hp2 HG02132.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0005a0001c0001t0008a0001c0001t0049others(6): Show | a0001c0001t0005g0078a0001c0001t0008g0054a0001c0001t0049g0101others(6): Show | 9 | 148 | 0.0608 | 18 | c.153 others(37): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 24224969 | A | ATGTGTGT others(11): Show |
downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0054 | 1 | 148 | 0.0068 | 18 | c.*10 others(31): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 4359 | chr16 | TogoVar | |||||||
PRKCD_chr3_53156209_53197717 | 53156244 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 HG03453.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0008a0001c0005t0003 | a0001c0001t0008g0204a0001c0005t0003g0043 | 2 | 322 | 0.0062 | 18 | c.-53 others(29): Show |
PRKCD | ENSG00000163932.16 | transcript | ENST00000330452.8 | protein_coding | 4964 | chr3 | TogoVar | |||||||
PRKCE_chr2_45646675_46192990 | 45958791 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02523.hp1 NA18959.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0007a0001c0001t0002g0160a0001c0002t0002g0046 | 3 | 168 | 0.0179 | 18 | c.413 others(37): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PRKCE_chr2_45646675_46192990 | 46135746 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0057 | 1 | 168 | 0.0060 | 18 | c.159 others(37): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PRKCG_chr19_53877197_53912652 | 53878690 | T | TATATATA others(11): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 HG02818.hp2 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0350a0001c0004t0002g0355 | 2 | 362 | 0.0055 | 18 | c.-38 others(29): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 3506 | chr19 | TogoVar | |||||||
PRKCG_chr19_53877197_53912652 | 53893756 | A | ATTTATTT others(11): Show |
intron_variant | MODIFIER | NA18985.hp1 NA19084.hp2 NA19091.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0135a0001c0002t0001g0136a0001c0002t0001g0137 | 3 | 362 | 0.0083 | 18 | c.939 others(33): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRKCG_chr19_53877197_53912652 | 53906081 | C | CCTTCTTC others(11): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0206 | 1 | 362 | 0.0028 | 18 | c.176 others(35): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRKCG_chr19_53877197_53912652 | 53906084 | C | CCTCCTCC others(11): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0345 | 1 | 362 | 0.0028 | 18 | c.176 others(35): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |