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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRAMEF13_chr1_13191188_13206409 | 13203403 | A | AAGAAGAA others(25): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 53 | 0.0189 | 32 | c.-20 others(43): Show |
PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 1995 | chr1 | TogoVar | ||||||
PRAMEF14_chr1_13336892_13352134 | 13349098 | A | AAAGAAAG others(25): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0054 | 1 | 256 | 0.0039 | 32 | c.-20 others(43): Show |
PRAMEF14 | ENSG00000204481.8 | transcript | ENST00000334600.7 | protein_coding | 1965 | chr1 | TogoVar | ||||||
PRAMEF14_chr1_13336892_13352134 | 13349272 | A | AAAGAAAG others(25): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0061 | 1 | 256 | 0.0039 | 32 | c.-22 others(43): Show |
PRAMEF14 | ENSG00000204481.8 | transcript | ENST00000334600.7 | protein_coding | 2139 | chr1 | TogoVar | ||||||
PRAMEF15_chr1_13310581_13327598 | 13327499 | C | CTCTCCCT others(25): Show |
downstream_gene_variant | MODIFIER | NA19007.hp1 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 302 | 0.0066 | 32 | c.*52 others(43): Show |
PRAMEF15 | ENSG00000204501.7 | transcript | ENST00000376152.2 | protein_coding | 4902 | chr1 | TogoVar | ||||||
PRAMEF15_chr1_13310581_13327598 | 13327527 | T | TCACCGTC others(25): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 302 | 0.0033 | 32 | c.*52 others(43): Show |
PRAMEF15 | ENSG00000204501.7 | transcript | ENST00000376152.2 | protein_coding | 4930 | chr1 | TogoVar | ||||||
PRAMEF20_chr1_13405450_13426328 | 13417908 | A | ATGTGTGT others(25): Show |
intron_variant | MODIFIER | NA18952.hp2 NA18969.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0032 | 2 | 442 | 0.0045 | 32 | c.288 others(47): Show |
PRAMEF20 | ENSG00000204478.11 | transcript | ENST00000602960.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRAMEF8_chr1_13276304_13290137 | 13286146 | A | AAGGAAGG others(25): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 HG01515.hp2 HG02071.hp1 others(24): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0003a0002c0001t0001g0055a0002c0001t0001g0058 | 27 | 332 | 0.0813 | 32 | c.-10 others(43): Show |
PRAMEF8 | ENSG00000182330.11 | transcript | ENST00000357367.7 | protein_coding | 1010 | chr1 | TogoVar | ||||||
PRC1_chr15_90961040_90999535 | 90969763 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0211 | 1 | 376 | 0.0027 | 32 | c.157 others(49): Show |
PRC1 | ENSG00000198901.14 | transcript | ENST00000394249.8 | protein_coding | 12/14 | chr15 | TogoVar | ||||||
PRCC_chr1_156762535_156805815 | 156779103 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316a0001c0001t0001g0317a0001c0001t0001g0318 | 3 | 350 | 0.0086 | 32 | c.469 others(49): Show |
PRCC | ENSG00000143294.15 | transcript | ENST00000271526.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRCC_chr1_156762535_156805815 | 156792053 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 350 | 0.0029 | 32 | c.117 others(49): Show |
PRCC | ENSG00000143294.15 | transcript | ENST00000271526.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRCP_chr11_82817936_82905430 | 82882875 | A | ACACACAC others(25): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 | 1 | 320 | 0.0031 | 32 | c.168 others(51): Show |
PRCP | ENSG00000137509.12 | transcript | ENST00000313010.8 | protein_coding | 1/8 | chr11 | TogoVar | ||||||
PRDM12_chr9_130659594_130687983 | 130680659 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | NA18945.hp2 NA19058.hp1 |
a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0049a0002c0001t0004g0273 | 2 | 392 | 0.0051 | 32 | c.683 others(47): Show |
PRDM12 | ENSG00000130711.5 | transcript | ENST00000253008.3 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRDM12_chr9_130659594_130687983 | 130680659 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0255 | 1 | 392 | 0.0026 | 32 | c.683 others(47): Show |
PRDM12 | ENSG00000130711.5 | transcript | ENST00000253008.3 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRDM15_chr21_41793225_41884344 | 41835984 | T | TCCCCCCA others(25): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01257.hp2 HG01258.hp2 others(13): Show |
a0001a0005 | a0001c0009a0001c0020a0001c0048others(4): Show | a0001c0009t0008a0001c0009t0024a0001c0020t0005others(5): Show | a0001c0009t0008g0262a0001c0009t0008g0286a0001c0009t0008g0295others(13): Show | 16 | 406 | 0.0394 | 32 | c.127 others(49): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 10/23 | chr21 | TogoVar | ||||||
PRDM6_chr5_123084241_123199266 | 123147279 | A | AAGAGAGA others(25): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0008 | a0008c0009 | a0008c0009t0019 | a0008c0009t0019g0279 | 1 | 312 | 0.0032 | 32 | c.901 others(49): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PRDX4_chrX_23662493_23691397 | 23665838 | A | AAAAAAAA others(25): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 349 | 0.0029 | 32 | c.-17 others(43): Show |
PRDX4 | ENSG00000123131.13 | transcript | ENST00000379341.9 | protein_coding | 1654 | chrX | TogoVar | ||||||
PRELID2_chr5_145751344_145840342 | 145821152 | G | GGTGTGTG others(25): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01106.hp1 HG01243.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0001g0142a0001c0001t0001g0188a0001c0001t0001g0204others(11): Show | 14 | 258 | 0.0543 | 32 | c.134 others(49): Show |
PRELID2 | ENSG00000186314.12 | transcript | ENST00000683046.1 | protein_coding | 2/6 | chr5 | TogoVar | ||||||
PREX1_chr20_48619252_48832999 | 48634168 | A | ATGGATGG others(25): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG02015.hp2 others(7): Show |
a0001a0019 | a0001c0006a0001c0024a0019c0025 | a0001c0006t0005a0001c0024t0005a0019c0025t0018 | a0001c0006t0005g0062a0001c0006t0005g0136a0001c0006t0005g0139others(7): Show | 10 | 268 | 0.0373 | 32 | c.426 others(49): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 33/39 | chr20 | TogoVar | ||||||
PREX1_chr20_48619252_48832999 | 48659262 | A | AAGGAAGG others(25): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01070.hp2 HG01109.hp1 others(1): Show |
a0002a0006 | a0002c0002a0006c0009 | a0002c0002t0003a0006c0009t0001 | a0002c0002t0003g0035a0002c0002t0003g0045a0006c0009t0001g0072others(1): Show | 4 | 268 | 0.0149 | 32 | c.188 others(49): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 16/39 | chr20 | TogoVar | ||||||
PREX1_chr20_48619252_48832999 | 48661444 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0011 | a0001c0011t0004 | a0001c0011t0004g0166 | 1 | 268 | 0.0037 | 32 | c.173 others(51): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 15/39 | chr20 | TogoVar | ||||||
PREX1_chr20_48619252_48832999 | 48661468 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0003 | a0003c0040 | a0003c0040t0001 | a0003c0040t0001g0234 | 1 | 268 | 0.0037 | 32 | c.173 others(51): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 15/39 | chr20 | TogoVar | ||||||
PRIM2_chr6_57312630_57651850 | 57542939 | A | ATTTTTTT others(25): Show |
intron_variant | MODIFIER | HG03540.hp1 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165a0001c0001t0002g0176 | 2 | 300 | 0.0067 | 32 | c.102 others(51): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PRKAA2_chr1_56640314_56720335 | 56690015 | T | TTCAACAG others(25): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02572.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0024a0001c0001t0162 | a0001c0001t0011g0068a0001c0001t0011g0381a0001c0001t0024g0110others(1): Show | 4 | 412 | 0.0097 | 32 | c.237 others(49): Show |
PRKAA2 | ENSG00000162409.12 | transcript | ENST00000371244.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKACA_chr19_14086688_14122762 | 14109999 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0314 | 1 | 358 | 0.0028 | 32 | c.47- others(47): Show |
PRKACA | ENSG00000072062.16 | transcript | ENST00000308677.9 | protein_coding | 1/9 | chr19 | TogoVar | ||||||
PRKACB_chr1_84139271_84243498 | 84180183 | G | GATATATA others(25): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02071.hp2 HG02735.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0046a0001c0001t0001g0075a0001c0001t0001g0133others(3): Show | 6 | 320 | 0.0188 | 32 | c.249 others(47): Show |
PRKACB | ENSG00000142875.21 | transcript | ENST00000370685.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKAG2_chr7_151551127_151882115 | 151795860 | T | TATATACA others(25): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 252 | 0.0040 | 32 | c.115 others(49): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151854983 | G | GCTCCACA others(25): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0225 | 1 | 252 | 0.0040 | 32 | c.114 others(51): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
PRKAR2A_chr3_48741586_48852874 | 48829590 | A | ATATACAC others(25): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0024 | 1 | 166 | 0.0060 | 32 | c.262 others(51): Show |
PRKAR2A | ENSG00000114302.17 | transcript | ENST00000265563.13 | protein_coding | 1/10 | chr3 | TogoVar | ||||||
PRKAR2A_chr3_48741586_48852874 | 48829608 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00609.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(4): Show | a0001c0001t0001g0079a0001c0001t0001g0080a0001c0001t0001g0081others(34): Show | 37 | 166 | 0.2229 | 32 | c.262 others(51): Show |
PRKAR2A | ENSG00000114302.17 | transcript | ENST00000265563.13 | protein_coding | 1/10 | chr3 | TogoVar | ||||||
PRKAR2A_chr3_48741586_48852874 | 48829646 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02809.hp1 HG06807.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0022a0001c0001t0006g0021a0001c0001t0006g0023others(3): Show | 6 | 166 | 0.0361 | 32 | c.262 others(51): Show |
PRKAR2A | ENSG00000114302.17 | transcript | ENST00000265563.13 | protein_coding | 1/10 | chr3 | TogoVar | ||||||
PRKAR2A_chr3_48741586_48852874 | 48836419 | T | TAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 | 1 | 166 | 0.0060 | 32 | c.262 others(51): Show |
PRKAR2A | ENSG00000114302.17 | transcript | ENST00000265563.13 | protein_coding | 1/10 | chr3 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66677075 | T | TTTTATTT others(25): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01496.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(10): Show | a0001c0001t0001g0160a0001c0001t0005g0173a0001c0001t0007g0026others(10): Show | 13 | 178 | 0.0730 | 32 | c.530 others(51): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PRKCA_chr17_66297613_66815743 | 66677075 | T | TTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG01884.hp2 NA18986.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0064 | a0001c0001t0001g0065a0001c0002t0064g0038 | 2 | 178 | 0.0112 | 32 | c.530 others(51): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PRKCA_chr17_66297613_66815743 | 66765420 | A | ATCTATAT others(25): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02698.hp1 NA19043.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015a0001c0001t0057others(1): Show | a0001c0001t0002g0072a0001c0001t0015g0100a0001c0001t0057g0054others(1): Show | 4 | 178 | 0.0225 | 32 | c.152 others(51): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PRKCB_chr16_23830983_24225611 | 23902732 | C | CCCTCCCT others(25): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0003 | a0001c0003t0044 | a0001c0003t0044g0131 | 1 | 148 | 0.0068 | 32 | c.205 others(51): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PRKCB_chr16_23830983_24225611 | 23902732 | C | CCCTCCCT others(25): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01123.hp2 HG02155.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005a0001c0009 | a0001c0001t0004a0001c0001t0029a0001c0005t0013others(1): Show | a0001c0001t0004g0106a0001c0001t0029g0083a0001c0005t0013g0032others(1): Show | 4 | 148 | 0.0270 | 32 | c.205 others(51): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PRKCB_chr16_23830983_24225611 | 23902732 | C | CCCTCCCT others(25): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01071.hp1 HG01192.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0003a0001c0001t0005a0001c0001t0021others(6): Show | a0001c0001t0003g0105a0001c0001t0005g0104a0001c0001t0021g0118others(7): Show | 10 | 148 | 0.0676 | 32 | c.205 others(51): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PRKCB_chr16_23830983_24225611 | 23902732 | C | CCCTCCCT others(25): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02300.hp1 HG02602.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0003g0075a0001c0001t0004g0087a0001c0001t0005g0078others(10): Show | 13 | 148 | 0.0878 | 32 | c.205 others(51): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PRKCB_chr16_23830983_24225611 | 23980798 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0079 | 1 | 148 | 0.0068 | 32 | c.206 others(49): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PRKCB_chr16_23830983_24225611 | 24021297 | T | TCCCTTCC others(25): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01123.hp1 HG01168.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0011others(7): Show | a0001c0001t0004g0087a0001c0001t0004g0106a0001c0001t0007g0005others(9): Show | 12 | 148 | 0.0811 | 32 | c.289 others(51): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PRKCB_chr16_23830983_24225611 | 24182873 | T | TTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG02738.hp2 HG02895.hp1 HG02965.hp1 others(4): Show |
a0001 | a0001c0002a0001c0003a0001c0011 | a0001c0002t0001a0001c0002t0050a0001c0002t0055others(4): Show | a0001c0002t0001g0003a0001c0002t0050g0008a0001c0002t0055g0114others(4): Show | 7 | 148 | 0.0473 | 32 | c.153 others(51): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PRKD2_chr19_46669316_46722114 | 46680924 | C | CTATATAT others(25): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0352 | 1 | 378 | 0.0027 | 32 | c.207 others(49): Show |
PRKD2 | ENSG00000105287.13 | transcript | ENST00000291281.9 | protein_coding | 15/17 | chr19 | TogoVar | ||||||
PRKD3_chr2_37245502_37329833 | 37249643 | G | GACACACA others(25): Show |
downstream_gene_variant | MODIFIER | NA18973.hp2 NA19065.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0016 | a0001c0002t0001g0322a0001c0002t0016g0150 | 2 | 388 | 0.0052 | 32 | c.*35 others(43): Show |
PRKD3 | ENSG00000115825.11 | transcript | ENST00000234179.8 | protein_coding | 858 | chr2 | TogoVar | ||||||
PRKG1_chr10_51069487_52303350 | 51115372 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01496.hp2 HG02109.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0002g0041others(4): Show | 7 | 64 | 0.1094 | 32 | c.312 others(51): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PRKG1_chr10_51069487_52303350 | 51554003 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0027 | 1 | 64 | 0.0156 | 32 | c.592 others(51): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 3/17 | chr10 | TogoVar | ||||||
PRKG1_chr10_51069487_52303350 | 51614918 | T | TCTTTGAA others(25): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02559.hp1 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0008 | a0001c0001t0003g0009a0001c0001t0005g0018a0001c0001t0008g0004others(1): Show | 4 | 64 | 0.0625 | 32 | c.592 others(53): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PRKN_chr6_161342417_162732766 | 161873982 | A | ATATATGT others(25): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03209.hp2 HG03704.hp1 |
a0001a0002 | a0001c0001a0001c0003a0002c0007 | a0001c0001t0001a0001c0003t0001a0002c0007t0013 | a0001c0001t0001g0028a0001c0003t0001g0032a0002c0007t0013g0018 | 3 | 32 | 0.0938 | 32 | c.735 others(51): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 161874287 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 32 | 0.0313 | 32 | c.735 others(51): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 161874329 | C | CATGTAAA others(25): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(1): Show | a0001c0001t0002g0011a0001c0001t0003g0022a0001c0001t0014g0012others(1): Show | 4 | 32 | 0.1250 | 32 | c.735 others(51): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 161900639 | A | ATTATATA others(25): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 32 | 0.0313 | 32 | c.734 others(51): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar |