| 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 | 57539638 | GTGTGTGT others(17): Show |
G | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 300 | 0.0033 | -24 | c.102 others(43): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PRIM2_chr6_57312630_57651850 | 57645321 | TCACACAC others(17): Show |
T | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 300 | 0.0033 | -24 | c.130 others(41): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PRIMA1_chr14_93713298_93793485 | 93722499 | GTGGTGGT others(17): Show |
G | intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0250 | 1 | 397 | 0.0025 | -24 | c.360 others(39): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 4/4 | chr14 | TogoVar | ||||||
| PRIMPOL_chr4_184644738_184699952 | 184675732 | ACTTGAAT others(17): Show |
A | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 328 | 0.0031 | -24 | c.845 others(41): Show |
PRIMPOL | ENSG00000164306.11 | transcript | ENST00000314970.11 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PRIMPOL_chr4_184644738_184699952 | 184676750 | TTCCCCCT others(17): Show |
T | intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 328 | 0.0031 | -24 | c.845 others(41): Show |
PRIMPOL | ENSG00000164306.11 | transcript | ENST00000314970.11 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PRIMPOL_chr4_184644738_184699952 | 184676976 | TTTCCCCC others(17): Show |
T | intron_variant | MODIFIER | HG02723.hp1 HG03453.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0054a0003c0003t0001g0062 | 2 | 328 | 0.0061 | -24 | c.845 others(41): Show |
PRIMPOL | ENSG00000164306.11 | transcript | ENST00000314970.11 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PRIMPOL_chr4_184644738_184699952 | 184676987 | ACTTCCCT others(17): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG02145.hp1 HG02622.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0016a0001c0001t0001g0017a0004c0004t0001g0034others(2): Show | 5 | 328 | 0.0152 | -24 | c.845 others(41): Show |
PRIMPOL | ENSG00000164306.11 | transcript | ENST00000314970.11 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PRKACA_chr19_14086688_14122762 | 14095136 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0306 | 1 | 358 | 0.0028 | -24 | c.766 others(41): Show |
PRKACA | ENSG00000072062.16 | transcript | ENST00000308677.9 | protein_coding | 8/9 | chr19 | TogoVar | ||||||
| PRKAG2_chr7_151551127_151882115 | 151703845 | AACACACA others(17): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG03471.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0009a0001c0002t0007 | a0001c0001t0002g0156a0001c0001t0002g0157a0001c0001t0002g0195others(2): Show | 5 | 252 | 0.0198 | -24 | c.467 others(43): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 3/15 | chr7 | TogoVar | ||||||
| PRKAG2_chr7_151551127_151882115 | 151703887 | CACACACA others(17): Show |
C | intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0233 | 1 | 252 | 0.0040 | -24 | c.467 others(43): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 3/15 | chr7 | TogoVar | ||||||
| PRKAG2_chr7_151551127_151882115 | 151773046 | AGAGAGAG others(17): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01071.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0026a0001c0001t0001g0044a0001c0001t0001g0072others(8): Show | 11 | 252 | 0.0437 | -24 | c.466 others(41): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 3/15 | chr7 | TogoVar | ||||||
| PRKAG2_chr7_151551127_151882115 | 151782323 | AGGAAGGA others(17): Show |
A | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 252 | 0.0040 | -24 | c.187 others(39): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 2/15 | chr7 | TogoVar | ||||||
| PRKAG2_chr7_151551127_151882115 | 151782327 | AGGAAGGA others(17): Show |
A | intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 252 | 0.0040 | -24 | c.187 others(39): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 2/15 | chr7 | TogoVar | ||||||
| PRKAG2_chr7_151551127_151882115 | 151782331 | AGGAAGGA others(17): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01074.hp1 HG03831.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0027a0001c0001t0001g0113a0001c0001t0001g0197others(7): Show | 10 | 252 | 0.0397 | -24 | c.187 others(39): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 2/15 | chr7 | TogoVar | ||||||
| PRKAG2_chr7_151551127_151882115 | 151795846 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0082a0001c0001t0008g0093 | 2 | 252 | 0.0079 | -24 | c.115 others(41): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
| PRKAG2_chr7_151551127_151882115 | 151832226 | GGGAAGGA others(17): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02293.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0172a0001c0001t0002g0133a0001c0001t0005g0228others(4): Show | 7 | 252 | 0.0278 | -24 | c.114 others(43): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
| PRKAG2_chr7_151551127_151882115 | 151875562 | GGTGTGTG others(17): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG01074.hp2 HG01081.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0175a0001c0001t0001g0176a0001c0001t0002g0173others(3): Show | 6 | 252 | 0.0238 | -24 | c.114 others(39): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
| PRKAR2A_chr3_48741586_48852874 | 48824542 | TAAGAAAG others(17): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02451.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(2): Show | a0001c0001t0002g0051a0001c0001t0002g0060a0001c0001t0002g0069others(6): Show | 9 | 166 | 0.0542 | -24 | c.263 others(43): Show |
PRKAR2A | ENSG00000114302.17 | transcript | ENST00000265563.13 | protein_coding | 1/10 | chr3 | TogoVar | ||||||
| PRKAR2B_chr7_107039705_107166811 | 107127442 | GGACTCGA others(17): Show |
G | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 282 | 0.0036 | -24 | c.397 others(39): Show |
PRKAR2B | ENSG00000005249.14 | transcript | ENST00000265717.5 | protein_coding | 3/10 | chr7 | TogoVar | ||||||
| PRKCA_chr17_66297613_66815743 | 66302332 | GGCCGCCG others(17): Show |
G | upstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 | 1 | 178 | 0.0056 | -24 | c.-51 others(33): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 280 | chr17 | TogoVar | ||||||
| PRKCA_chr17_66297613_66815743 | 66563951 | TTTCCTTC others(17): Show |
T | intron_variant | MODIFIER | HG02273.hp2 NA18942.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0093a0001c0003t0008a0001c0003t0011 | a0001c0001t0093g0139a0001c0003t0008g0030a0001c0003t0011g0152 | 3 | 178 | 0.0169 | -24 | c.288 others(43): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| PRKCA_chr17_66297613_66815743 | 66765418 | CTATATAT others(17): Show |
C | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0151 | 1 | 178 | 0.0056 | -24 | c.152 others(43): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| PRKCB_chr16_23830983_24225611 | 23847354 | ATCTATCT others(17): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01168.hp2 HG01169.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0005a0001c0001t0046a0001c0002t0005others(16): Show | a0001c0001t0005g0078a0001c0001t0046g0029a0001c0002t0005g0065others(17): Show | 20 | 148 | 0.1351 | -24 | c.205 others(41): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| PRKCB_chr16_23830983_24225611 | 23847357 | TATCTATC others(17): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG02155.hp2 NA18943.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0003g0075a0001c0001t0004g0087a0001c0001t0007g0005others(2): Show | 5 | 148 | 0.0338 | -24 | c.205 others(41): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| PRKCB_chr16_23830983_24225611 | 23863171 | TGTATATA others(17): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG01167.hp2 HG01192.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0005a0001c0001t0008a0001c0001t0010others(26): Show | a0001c0001t0005g0078a0001c0001t0008g0054a0001c0001t0010g0053others(26): Show | 29 | 148 | 0.1960 | -24 | c.205 others(43): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| PRKCB_chr16_23830983_24225611 | 23865511 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0117 | 1 | 148 | 0.0068 | -24 | c.205 others(43): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| PRKCB_chr16_23830983_24225611 | 23865515 | ATATGTGT others(17): Show |
A | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0011 | a0001c0011t0063 | a0001c0011t0063g0067 | 1 | 148 | 0.0068 | -24 | c.205 others(43): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| PRKCB_chr16_23830983_24225611 | 23865547 | GTGTGTGT others(17): Show |
G | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0010 | a0001c0010t0061 | a0001c0010t0061g0111 | 1 | 148 | 0.0068 | -24 | c.205 others(43): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| PRKCB_chr16_23830983_24225611 | 23889116 | GTCCATCC others(17): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG02145.hp2 HG02615.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0010a0001c0002t0035a0001c0002t0083others(8): Show | a0001c0001t0010g0053a0001c0002t0035g0139a0001c0002t0083g0068others(8): Show | 11 | 148 | 0.0743 | -24 | c.205 others(43): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| PRKCB_chr16_23830983_24225611 | 24021293 | CCCTTCCT others(17): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG03130.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0065a0001c0005t0006 | a0001c0003t0065g0119a0001c0005t0006g0028 | 2 | 148 | 0.0135 | -24 | c.289 others(43): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| PRKCB_chr16_23830983_24225611 | 24158527 | CATGTATA others(17): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0003a0001c0004a0001c0009others(2): Show | a0001c0003t0074a0001c0003t0075a0001c0004t0009others(3): Show | a0001c0003t0074g0141a0001c0003t0075g0019a0001c0004t0009g0092others(3): Show | 6 | 148 | 0.0405 | -24 | c.123 others(43): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| PRKCE_chr2_45646675_46192990 | 45716712 | AAGGAAGG others(17): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(53): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0081others(53): Show | 56 | 168 | 0.3333 | -24 | c.348 others(43): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PRKCE_chr2_45646675_46192990 | 45744413 | TTTTCTTT others(17): Show |
T | intron_variant | MODIFIER | HG01981.hp1 HG02132.hp1 HG02300.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0116a0001c0001t0002g0033a0001c0001t0004g0133others(2): Show | 5 | 168 | 0.0298 | -24 | c.348 others(43): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PRKCE_chr2_45646675_46192990 | 45976857 | CTGTGTGT others(17): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0048 | 1 | 168 | 0.0060 | -24 | c.572 others(39): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PRKCG_chr19_53877197_53912652 | 53909824 | CCCAGGCC others(17): Show |
C | downstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057 | 1 | 362 | 0.0028 | -24 | c.*29 others(35): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 2173 | chr19 | TogoVar | ||||||
| PRKCI_chr3_170217424_170310977 | 170229112 | GGGATATT others(17): Show |
G | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 342 | 0.0029 | -24 | c.102 others(41): Show |
PRKCI | ENSG00000163558.13 | transcript | ENST00000295797.5 | protein_coding | 1/17 | chr3 | TogoVar | ||||||
| PRKCI_chr3_170217424_170310977 | 170263293 | GTTTCTTT others(17): Show |
G | intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0326 | 1 | 342 | 0.0029 | -24 | c.314 others(37): Show |
PRKCI | ENSG00000163558.13 | transcript | ENST00000295797.5 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PRKCZ_chr1_2045411_2190395 | 2099022 | CCGTTGTC others(17): Show |
C | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 286 | 0.0035 | -24 | c.335 others(43): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRKCZ_chr1_2045411_2190395 | 2123453 | GGGTTGTG others(17): Show |
G | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0221 | 1 | 286 | 0.0035 | -24 | c.335 others(43): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRKCZ_chr1_2045411_2190395 | 2175551 | ACTCCAAC others(17): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG01517.hp2 HG01891.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0008 | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(2): Show | a0001c0001t0001g0153a0001c0001t0001g0160a0001c0001t0001g0226others(11): Show | 14 | 286 | 0.0490 | -24 | c.157 others(41): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRKD1_chr14_29571479_29932847 | 29920044 | GGAAGGAA others(17): Show |
G | intron_variant | MODIFIER | HG02818.hp2 HG03130.hp1 HG03209.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(2): Show | a0001c0001t0001g0124a0001c0001t0006g0001a0001c0002t0001g0093others(2): Show | 5 | 156 | 0.0321 | -24 | c.264 others(41): Show |
PRKD1 | ENSG00000184304.17 | transcript | ENST00000331968.11 | protein_coding | 1/17 | chr14 | TogoVar | ||||||
| PRKDC_chr8_47768111_47965136 | 47827118 | TCACACAC others(17): Show |
T | intron_variant | MODIFIER | HG02965.hp1 | a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0060 | 1 | 198 | 0.0051 | -24 | c.857 others(41): Show |
PRKDC | ENSG00000253729.9 | transcript | ENST00000314191.7 | protein_coding | 62/85 | chr8 | TogoVar | ||||||
| PRKG1_chr10_51069487_52303350 | 51078590 | ATATTTAT others(17): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0024 | 1 | 64 | 0.0156 | -24 | c.311 others(41): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PRKG1_chr10_51069487_52303350 | 51172640 | GTATGTAT others(17): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02965.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0019a0001c0001t0003g0023a0001c0001t0005g0018 | 3 | 64 | 0.0469 | -24 | c.478 others(43): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PRKG1_chr10_51069487_52303350 | 51172644 | GTATGTAT others(17): Show |
G | intron_variant | MODIFIER | HG03579.hp1 NA18522.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0005a0001c0006t0007 | a0001c0001t0002g0005a0001c0001t0005g0031a0001c0006t0007g0050 | 3 | 64 | 0.0469 | -24 | c.478 others(43): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PRKG1_chr10_51069487_52303350 | 51172648 | GTATCTAT others(17): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG03195.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0002g0036a0001c0001t0003g0001 | 3 | 64 | 0.0469 | -24 | c.478 others(43): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PRKG1_chr10_51069487_52303350 | 51970001 | TACACACA others(17): Show |
T | intron_variant | MODIFIER | HG02886.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0064a0001c0001t0007g0007 | 2 | 64 | 0.0313 | -24 | c.762 others(43): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PRKG1_chr10_51069487_52303350 | 52302484 | GCACATAT others(17): Show |
G | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01099.hp1 HG01123.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0055a0001c0001t0003g0001a0001c0001t0003g0009others(15): Show | 18 | 64 | 0.2813 | -24 | c.*85 others(35): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 4135 | chr10 | TogoVar | ||||||
| PRKG1_chr10_51069487_52303350 | 52302502 | CTATATAC others(17): Show |
C | downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 64 | 0.0156 | -24 | c.*86 others(35): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 4153 | chr10 | TogoVar | ||||||
| PRKN_chr6_161342417_162732766 | 161655866 | GCACACAC others(17): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02647.hp1 HG02922.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0003t0001others(3): Show | a0001c0001t0002g0011a0001c0001t0008g0010a0001c0003t0001g0032others(3): Show | 6 | 32 | 0.1875 | -24 | c.872 others(43): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 7/11 | chr6 | TogoVar |