view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPP6R2_chr22_50338327_50450090 | 50424341 | TGTCCGCG others(12): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG02080.hp1 HG02083.hp1 others(16): Show |
a0001a0016 | a0001c0001a0016c0026 | a0001c0001t0006a0001c0001t0014a0001c0001t0031others(2): Show | a0001c0001t0006g0001 a0001c0001t0006g0046 a0001c0001t0006g0051 others(16): Show |
19 | 340 | 0.0559 | -19 | c.112 others(36): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50424440 | CGCGTGTG others(12): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(174): Show |
a0001a0002a0005others(10): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(37): Show | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0223 others(174): Show |
177 | 340 | 0.5206 | -19 | c.112 others(36): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPP6R3_chr11_68455752_68620334 | 68580746 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG02897.hp2 HG02970.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0013a0001c0001t0018a0002c0002t0015 | a0001c0001t0013g0234 a0001c0001t0018g0168 a0002c0002t0015g0024 others(1): Show |
4 | 252 | 0.0159 | -19 | c.154 others(38): Show |
PPP6R3 | ENSG00000110075.15 | transcript | ENST00000393800.7 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PQBP1_chrX_48892930_48908143 | 48898785 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 307 | 0.0033 | -19 | c.67+ others(32): Show |
PQBP1 | ENSG00000102103.18 | transcript | ENST00000447146.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PRAMEF14_chr1_13336892_13352134 | 13342615 | CTGCCTGA others(12): Show |
C | frameshift_variant | HIGH | NA19055.hp1 | a0013 | a0013c0012 | a0013c0012t0001 | a0013c0012t0001g0056 | 1 | 256 | 0.0039 | -19 | c.131 others(28): Show |
p.Thr others(5): Show |
PRAMEF14 | ENSG00000204481.8 | transcript | ENST00000334600.7 | protein_coding | 4/4 | 1440/2164 | 1319/1425 | 440/474 | chr1 | TogoVar | |||
PRAMEF15_chr1_13310581_13327598 | 13327498 | TCTCTCCC others(12): Show |
T | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01261.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0057 others(2): Show |
6 | 302 | 0.0199 | -19 | c.*52 others(30): Show |
PRAMEF15 | ENSG00000204501.7 | transcript | ENST00000376152.2 | protein_coding | 4901 | chr1 | TogoVar | |||||||
PRAMEF20_chr1_13405450_13426328 | 13424960 | TCACTCCA others(12): Show |
T | downstream_gene_variant | MODIFIER | HG02293.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0100 | 1 | 442 | 0.0023 | -19 | c.*37 others(30): Show |
PRAMEF20 | ENSG00000204478.11 | transcript | ENST00000602960.2 | protein_coding | 3633 | chr1 | TogoVar | |||||||
PRAMEF26_chr1_13143907_13161009 | 13155273 | TTTTGGGA others(12): Show |
T | intron_variant | MODIFIER | NA19012.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0099 | 1 | 229 | 0.0044 | -19 | c.-17 others(34): Show |
PRAMEF26 | ENSG00000280267.7 | transcript | ENST00000624207.2 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
PRAMEF6_chr1_12933472_12952580 | 12945980 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | NA19077.hp2 | a0018 | a0018c0011 | a0018c0011t0008 | a0018c0011t0008g0015 | 1 | 90 | 0.0111 | -19 | c.-23 others(36): Show |
PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
PRC1_chr15_90961040_90999535 | 90964822 | CAAAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0023 | 1 | 376 | 0.0027 | -19 | c.*22 others(30): Show |
PRC1 | ENSG00000198901.14 | transcript | ENST00000394249.8 | protein_coding | 1217 | chr15 | TogoVar | |||||||
PRC1_chr15_90961040_90999535 | 90969762 | ACATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0247 | 1 | 376 | 0.0027 | -19 | c.157 others(36): Show |
PRC1 | ENSG00000198901.14 | transcript | ENST00000394249.8 | protein_coding | 12/14 | chr15 | TogoVar | |||||||
PRDM10_chr11_129894711_130007835 | 129963377 | AAAAAGAG others(12): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG01074.hp1 others(50): Show |
a0003a0004a0007others(1): Show | a0003c0002a0003c0006a0003c0010others(13): Show | a0003c0002t0001a0003c0006t0001a0003c0006t0002others(17): Show | a0003c0002t0001g0055 a0003c0002t0001g0056 a0003c0002t0001g0058 others(50): Show |
53 | 326 | 0.1626 | -19 | c.-11 others(38): Show |
PRDM10 | ENSG00000170325.16 | transcript | ENST00000360871.8 | protein_coding | 1/20 | chr11 | TogoVar | |||||||
PRDM10_chr11_129894711_130007835 | 129985792 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG02965.hp2 HG03453.hp1 others(1): Show |
a0002 | a0002c0008 | a0002c0008t0010a0002c0008t0032 | a0002c0008t0010g0037 a0002c0008t0010g0301 a0002c0008t0010g0302 others(1): Show |
4 | 326 | 0.0123 | -19 | c.-11 others(40): Show |
PRDM10 | ENSG00000170325.16 | transcript | ENST00000360871.8 | protein_coding | 1/20 | chr11 | TogoVar | |||||||
PRDM10_chr11_129894711_130007835 | 129985794 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02027.hp1 HG02071.hp1 HG02135.hp1 others(15): Show |
a0001a0003a0004others(1): Show | a0001c0003a0003c0002a0003c0006others(4): Show | a0001c0003t0001a0003c0002t0001a0003c0006t0002others(6): Show | a0001c0003t0001g0305 a0003c0002t0001g0092 a0003c0002t0001g0093 others(15): Show |
18 | 326 | 0.0552 | -19 | c.-11 others(40): Show |
PRDM10 | ENSG00000170325.16 | transcript | ENST00000360871.8 | protein_coding | 1/20 | chr11 | TogoVar | |||||||
PRDM10_chr11_129894711_130007835 | 129985796 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02015.hp1 HG02109.hp2 HG02145.hp1 |
a0003a0004 | a0003c0022a0004c0015a0004c0047 | a0003c0022t0011a0004c0015t0002a0004c0047t0008 | a0003c0022t0011g0142 a0004c0015t0002g0292 a0004c0047t0008g0143 |
3 | 326 | 0.0092 | -19 | c.-11 others(40): Show |
PRDM10 | ENSG00000170325.16 | transcript | ENST00000360871.8 | protein_coding | 1/20 | chr11 | TogoVar | |||||||
PRDM14_chr8_70046651_70076252 | 70054648 | AGCTGGGA others(12): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00558.hp2 others(114): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0013others(3): Show | a0001c0001t0004a0001c0001t0008a0001c0001t0009others(10): Show | a0001c0001t0004g0072 a0001c0001t0004g0091 a0001c0001t0004g0092 others(75): Show |
117 | 422 | 0.2773 | -19 | c.148 others(36): Show |
PRDM14 | ENSG00000147596.4 | transcript | ENST00000276594.3 | protein_coding | 7/7 | chr8 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41837774 | TCCTGAGC others(12): Show |
T | intron_variant | MODIFIER | NA18985.hp1 | a0013 | a0013c0054 | a0013c0054t0001 | a0013c0054t0001g0243 | 1 | 406 | 0.0025 | -19 | c.100 others(36): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 8/23 | chr21 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3325912 | CCTTGGCC others(12): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00673.hp1 others(28): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0096 a0001c0001t0002g0176 a0001c0001t0003g0013 others(28): Show |
31 | 210 | 0.1476 | -19 | c.439 others(38): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDX1_chr1_45506051_45526884 | 45513879 | TGGCCTCG others(12): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 364 | 0.0028 | -19 | c.514 others(34): Show |
PRDX1 | ENSG00000117450.15 | transcript | ENST00000319248.13 | protein_coding | 5/5 | chr1 | TogoVar | |||||||
PRDX5_chr11_64313121_64326811 | 64321120 | CTGTGGGA others(12): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00621.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(4): Show |
47 | 386 | 0.1218 | -19 | c.539 others(32): Show |
PRDX5 | ENSG00000126432.14 | transcript | ENST00000265462.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRELID2_chr5_145751344_145840342 | 145825225 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG02280.hp1 HG02280.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(14): Show | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 others(22): Show |
27 | 258 | 0.1047 | -19 | c.76- others(34): Show |
PRELID2 | ENSG00000186314.12 | transcript | ENST00000683046.1 | protein_coding | 1/6 | chr5 | TogoVar | |||||||
PRICKLE1_chr12_42451757_42594746 | 42484011 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 300 | 0.0033 | -19 | c.-48 others(38): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | |||||||
PRICKLE2_chr3_64087236_64230466 | 64179019 | CTTTCTTT others(12): Show |
C | intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 | 1 | 340 | 0.0029 | -19 | c.145 others(38): Show |
PRICKLE2 | ENSG00000163637.13 | transcript | ENST00000638394.2 | protein_coding | 2/7 | chr3 | TogoVar | |||||||
PRKAA2_chr1_56640314_56720335 | 56690616 | CTCTTAAG others(12): Show |
C | intron_variant | MODIFIER | HG00621.hp2 NA18971.hp1 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0160a0001c0001t0161 | a0001c0001t0003g0093 a0001c0001t0160g0092 a0001c0001t0161g0091 |
3 | 412 | 0.0073 | -19 | c.237 others(34): Show |
PRKAA2 | ENSG00000162409.12 | transcript | ENST00000371244.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKAB1_chr12_119663133_119686619 | 119666017 | CTCCTGGC others(12): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 2 | 374 | 0.0054 | -19 | c.-22 others(30): Show |
PRKAB1 | ENSG00000111725.11 | transcript | ENST00000229328.10 | protein_coding | 2115 | chr12 | TogoVar | |||||||
PRKACA_chr19_14086688_14122762 | 14109958 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0302 | 1 | 358 | 0.0028 | -19 | c.47- others(34): Show |
PRKACA | ENSG00000072062.16 | transcript | ENST00000308677.9 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
PRKACA_chr19_14086688_14122762 | 14109966 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 358 | 0.0028 | -19 | c.47- others(34): Show |
PRKACA | ENSG00000072062.16 | transcript | ENST00000308677.9 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151831205 | CACAATAT others(12): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0006 | 1 | 252 | 0.0040 | -19 | c.115 others(38): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151870472 | CCAGCAAA others(12): Show |
C | intron_variant | MODIFIER | NA19011.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0121 | 1 | 252 | 0.0040 | -19 | c.114 others(36): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKCA_chr17_66297613_66815743 | 66563990 | CCTTCCTT others(12): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02630.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0061a0001c0001t0081a0001c0001t0095 | a0001c0001t0061g0154 a0001c0001t0081g0127 a0001c0001t0095g0037 |
3 | 178 | 0.0169 | -19 | c.288 others(38): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23866976 | TCCCTTCC others(12): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG02015.hp1 HG02015.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0029others(14): Show | a0001c0001t0003g0075 a0001c0001t0004g0087 a0001c0001t0029g0083 others(14): Show |
17 | 148 | 0.1149 | -19 | c.205 others(38): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23982097 | TTTCCCTT others(12): Show |
T | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0062 | 1 | 148 | 0.0068 | -19 | c.206 others(36): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | chr16 | TogoVar | |||||||
PRKCE_chr2_45646675_46192990 | 45958808 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0096 | 1 | 168 | 0.0060 | -19 | c.413 others(38): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PRKCE_chr2_45646675_46192990 | 45958816 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0045 | 1 | 168 | 0.0060 | -19 | c.413 others(38): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PRKCE_chr2_45646675_46192990 | 46192083 | TAAAATAA others(12): Show |
T | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0057 a0001c0001t0010g0098 |
2 | 168 | 0.0119 | -19 | c.*72 others(30): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 4094 | chr2 | TogoVar | |||||||
PRKCSH_chr19_11430635_11455968 | 11439605 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | NA19081.hp1 NA19081.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0117 a0002c0002t0002g0118 |
2 | 346 | 0.0058 | -19 | c.350 others(36): Show |
PRKCSH | ENSG00000130175.10 | transcript | ENST00000677123.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRKD1_chr14_29571479_29932847 | 29877354 | TCATACAT others(12): Show |
T | intron_variant | MODIFIER | NA18747.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0129 | 1 | 156 | 0.0064 | -19 | c.264 others(38): Show |
PRKD1 | ENSG00000184304.17 | transcript | ENST00000331968.11 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
PRKD3_chr2_37245502_37329833 | 37287255 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0164 a0001c0003t0006g0165 a0001c0003t0006g0168 others(2): Show |
5 | 388 | 0.0129 | -19 | c.718 others(34): Show |
PRKD3 | ENSG00000115825.11 | transcript | ENST00000234179.8 | protein_coding | 5/18 | chr2 | TogoVar | |||||||
PRKG1_chr10_51069487_52303350 | 51375764 | TTACTATT others(12): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01099.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0038 a0001c0001t0002g0043 a0001c0001t0003g0001 others(16): Show |
19 | 64 | 0.2969 | -19 | c.479 others(38): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 2/17 | chr10 | TogoVar | |||||||
PRKG1_chr10_51069487_52303350 | 51381256 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp2 HG02109.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0047 a0001c0001t0001g0051 others(5): Show |
8 | 64 | 0.1250 | -19 | c.479 others(38): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRKG1_chr10_51069487_52303350 | 51601721 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG02818.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0006 a0001c0001t0003g0001 a0001c0001t0003g0029 others(5): Show |
8 | 64 | 0.1250 | -19 | c.592 others(40): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 161573740 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0006 | a0006c0010 | a0006c0010t0005 | a0006c0010t0005g0013 | 1 | 32 | 0.0313 | -19 | c.872 others(36): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 7/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161680757 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG03195.hp1 |
a0001a0002 | a0001c0008a0002c0002 | a0001c0008t0010a0002c0002t0001 | a0001c0008t0010g0014 a0002c0002t0001g0016 |
2 | 32 | 0.0625 | -19 | c.871 others(40): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 7/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162553830 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0003 | 1 | 32 | 0.0313 | -19 | c.8-1 others(36): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
PRLR_chr5_35050702_35235487 | 35191048 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01169.hp1 HG01169.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0013 a0001c0001t0001g0070 a0001c0001t0001g0074 others(33): Show |
36 | 214 | 0.1682 | -19 | c.-10 others(40): Show |
PRLR | ENSG00000113494.17 | transcript | ENST00000618457.5 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
PRMT3_chr11_20382716_20514338 | 20398316 | GTTTTTTA others(12): Show |
G | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 380 | 0.0026 | -19 | c.705 others(34): Show |
PRMT3 | ENSG00000185238.13 | transcript | ENST00000331079.11 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRMT3_chr11_20382716_20514338 | 20473751 | TCTCAGCC others(12): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0355 | 1 | 380 | 0.0026 | -19 | c.134 others(38): Show |
PRMT3 | ENSG00000185238.13 | transcript | ENST00000331079.11 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRMT3_chr11_20382716_20514338 | 20503199 | GTCTGGCT others(12): Show |
G | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 380 | 0.0026 | -19 | c.148 others(38): Show |
PRMT3 | ENSG00000185238.13 | transcript | ENST00000331079.11 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PROC_chr2_127413427_127434242 | 127430465 | CTTTTTTT others(12): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(144): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0006others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(6): Show | a0001c0002t0001g0002 a0001c0002t0001g0009 a0001c0002t0001g0013 others(22): Show |
147 | 418 | 0.3517 | -19 | c.*15 others(30): Show |
PROC | ENSG00000115718.18 | transcript | ENST00000234071.8 | protein_coding | 1224 | chr2 | TogoVar | |||||||
PROC_chr2_127413427_127434242 | 127434221 | TTCAAGAC others(12): Show |
T | downstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0006 | 1 | 418 | 0.0024 | -19 | c.*52 others(30): Show |
PROC | ENSG00000115718.18 | transcript | ENST00000234071.8 | protein_coding | 4980 | chr2 | TogoVar |