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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRDM16_chr1_3064203_3443621 | 3361940 | A | AGGAGGGC others(26): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02970.hp1 |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0007a0002c0003t0004 | a0001c0004t0007g0038a0002c0003t0004g0068 | 2 | 210 | 0.0095 | 33 | c.439 others(52): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM5_chr4_120686915_120927726 | 120872150 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0097 | 1 | 298 | 0.0034 | 33 | c.178 others(52): Show |
PRDM5 | ENSG00000138738.11 | transcript | ENST00000264808.8 | protein_coding | 2/15 | chr4 | TogoVar | ||||||
PRDX4_chrX_23662493_23691397 | 23665838 | A | AAAAAAAA others(26): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG02257.hp1 HG02922.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0143others(2): Show | 5 | 349 | 0.0143 | 33 | c.-17 others(44): Show |
PRDX4 | ENSG00000123131.13 | transcript | ENST00000379341.9 | protein_coding | 1654 | chrX | TogoVar | ||||||
PRDX4_chrX_23662493_23691397 | 23665838 | A | AAAAAAAA others(26): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 349 | 0.0029 | 33 | c.-17 others(44): Show |
PRDX4 | ENSG00000123131.13 | transcript | ENST00000379341.9 | protein_coding | 1654 | chrX | TogoVar | ||||||
PRIMA1_chr14_93713298_93793485 | 93783858 | A | AACCACCA others(26): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02896.hp2 HG02897.hp1 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0006a0001c0001t0018others(2): Show | a0001c0001t0002g0008a0001c0001t0006g0320a0001c0001t0018g0216others(3): Show | 7 | 397 | 0.0176 | 33 | c.93+ others(48): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 2/4 | chr14 | TogoVar | ||||||
PRIMPOL_chr4_184644738_184699952 | 184676815 | C | CCCTTCCT others(26): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG01074.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0302a0002c0002t0001g0303a0002c0002t0001g0304others(4): Show | 7 | 328 | 0.0213 | 33 | c.845 others(50): Show |
PRIMPOL | ENSG00000164306.11 | transcript | ENST00000314970.11 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PRKACB_chr1_84139271_84243498 | 84198840 | T | TATATATG others(26): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 320 | 0.0031 | 33 | c.783 others(50): Show |
PRKACB | ENSG00000142875.21 | transcript | ENST00000370685.7 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKAR2A_chr3_48741586_48852874 | 48836419 | T | TAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA19000.hp1 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0031a0001c0001t0005g0034 | 2 | 166 | 0.0121 | 33 | c.262 others(52): Show |
PRKAR2A | ENSG00000114302.17 | transcript | ENST00000265563.13 | protein_coding | 1/10 | chr3 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66798407 | A | ATGGTGGT others(26): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0002 | 1 | 178 | 0.0056 | 33 | c.185 others(52): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PRKCA_chr17_66297613_66815743 | 66799583 | A | ATGGTGGT others(26): Show |
intron_variant | MODIFIER | HG02258.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0086a0001c0001t0095 | a0001c0001t0086g0122a0001c0001t0095g0037 | 2 | 178 | 0.0112 | 33 | c.185 others(52): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PRKCB_chr16_23830983_24225611 | 23882021 | T | TCTCTCTC others(26): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0017 | a0002c0017t0027 | a0002c0017t0027g0077 | 1 | 148 | 0.0068 | 33 | c.205 others(52): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PRKCB_chr16_23830983_24225611 | 23982038 | A | ACCTTCCC others(26): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01167.hp2 HG01243.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0028a0001c0002t0002a0001c0002t0059others(10): Show | a0001c0001t0028g0051a0001c0002t0002g0017a0001c0002t0059g0096others(11): Show | 14 | 148 | 0.0946 | 33 | c.206 others(50): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PRKCG_chr19_53877197_53912652 | 53906069 | C | CCTTCTTC others(26): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0201 | 1 | 362 | 0.0028 | 33 | c.176 others(50): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PRKCG_chr19_53877197_53912652 | 53906081 | C | CCTTCTTC others(26): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 | 1 | 362 | 0.0028 | 33 | c.176 others(50): 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(26): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0146 | 1 | 362 | 0.0028 | 33 | c.176 others(50): 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(26): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0114 | 1 | 362 | 0.0028 | 33 | c.176 others(50): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PRKCG_chr19_53877197_53912652 | 53906084 | C | CCTTCTTC others(26): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02723.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0113a0001c0002t0001g0302 | 2 | 362 | 0.0055 | 33 | c.176 others(50): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2121515 | C | CTTAGGGT others(26): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02056.hp1 HG02080.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0080a0001c0001t0001g0082a0001c0001t0004g0079others(4): Show | 7 | 286 | 0.0245 | 33 | c.335 others(52): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2121519 | A | AGGTCATG others(26): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(169): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0048a0001c0001t0001g0049a0001c0001t0001g0050others(169): Show | 172 | 286 | 0.6014 | 33 | c.335 others(52): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2121898 | G | GGTGGTGG others(26): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0186 | 1 | 286 | 0.0035 | 33 | c.335 others(52): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2121969 | C | CGGCGGTG others(26): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0232 | 1 | 286 | 0.0035 | 33 | c.335 others(52): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2122913 | G | GGCTGTAG others(26): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02735.hp2 NA18961.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0016 | a0001c0001t0001g0081a0001c0001t0001g0089a0003c0005t0016g0180 | 3 | 286 | 0.0105 | 33 | c.335 others(52): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2123307 | G | GGCTGTAG others(26): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 286 | 0.0035 | 33 | c.335 others(52): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2124029 | C | CTGTAGTT others(26): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0047 | 1 | 286 | 0.0035 | 33 | c.335 others(52): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 162010579 | T | TTATATTA others(26): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0004 | 1 | 32 | 0.0313 | 33 | c.619 others(52): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 5/11 | chr6 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 162010720 | A | ATTATATA others(26): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0004 | 1 | 32 | 0.0313 | 33 | c.619 others(52): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 5/11 | chr6 | TogoVar | ||||||
PRMT8_chr12_3486203_3598973 | 3496214 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02109.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040a0001c0001t0001g0177 | 2 | 364 | 0.0055 | 33 | c.75+ others(48): Show |
PRMT8 | ENSG00000111218.12 | transcript | ENST00000382622.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PRMT8_chr12_3486203_3598973 | 3496214 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 364 | 0.0028 | 33 | c.75+ others(48): Show |
PRMT8 | ENSG00000111218.12 | transcript | ENST00000382622.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PROKR1_chr2_68638579_68663251 | 68660672 | C | CAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | NA18963.hp2 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0016 | 1 | 442 | 0.0023 | 33 | c.*50 others(44): Show |
PROKR1 | ENSG00000169618.7 | transcript | ENST00000303786.5 | protein_coding | 2422 | chr2 | TogoVar | ||||||
PROM1_chr4_15963228_16089023 | 16004829 | T | TTTCTTTC others(26): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0019 | a0001c0019t0005 | a0001c0019t0005g0017 | 1 | 374 | 0.0027 | 33 | c.145 others(52): Show |
PROM1 | ENSG00000007062.12 | transcript | ENST00000447510.7 | protein_coding | 13/27 | chr4 | TogoVar | ||||||
PRORP_chr14_35117552_35282622 | 35172453 | C | CTTCTTTC others(26): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0263 | 1 | 314 | 0.0032 | 33 | c.116 others(52): Show |
PRORP | ENSG00000100890.16 | transcript | ENST00000534898.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PROSER2_chr10_11818356_11877277 | 11840955 | A | AAAAATAT others(26): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0007 | a0001c0007t0012 | a0001c0007t0012g0179 | 1 | 348 | 0.0029 | 33 | c.-81 others(52): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PROZ_chr13_113153648_113177386 | 113154196 | G | GAGGCGGG others(26): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 378 | 0.0027 | 33 | c.-44 others(44): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4451 | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113154293 | A | AGGGCGCG others(26): Show |
upstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 378 | 0.0027 | 33 | c.-43 others(44): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4354 | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113154395 | C | CGGGGGAG others(26): Show |
upstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0172 | 1 | 378 | 0.0027 | 33 | c.-42 others(44): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4252 | chr13 | TogoVar | ||||||
PRPH2_chr6_42691598_42727597 | 42705599 | A | AAAAATAT others(26): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0235 | 1 | 392 | 0.0026 | 33 | c.582 others(48): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | ||||||
PRPH_chr12_49290147_49303686 | 49299542 | T | TAATAATA others(26): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0007 | 1 | 382 | 0.0026 | 33 | c.*11 others(44): Show |
PRPH | ENSG00000135406.15 | transcript | ENST00000257860.9 | protein_coding | 857 | chr12 | TogoVar | ||||||
PRPS1L1_chr7_18021770_18032846 | 18030651 | T | TATATATA others(26): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 462 | 0.0022 | 33 | c.-28 others(44): Show |
PRPS1L1 | ENSG00000229937.9 | transcript | ENST00000506618.5 | protein_coding | 2806 | WARNING_TRANSCRIPT_NO_START_CODON | chr7 | TogoVar | |||||
PRR12_chr19_49586182_49631439 | 49623898 | C | CTGGTTAG others(26): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0050 | 1 | 322 | 0.0031 | 33 | c.572 others(50): Show |
PRR12 | ENSG00000126464.15 | transcript | ENST00000418929.7 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PRR12_chr19_49586182_49631439 | 49624262 | A | ATAGGTGG others(26): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 322 | 0.0031 | 33 | c.572 others(50): Show |
PRR12 | ENSG00000126464.15 | transcript | ENST00000418929.7 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PRR12_chr19_49586182_49631439 | 49624416 | A | AGAATTCT others(26): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 | 1 | 322 | 0.0031 | 33 | c.572 others(50): Show |
PRR12 | ENSG00000126464.15 | transcript | ENST00000418929.7 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PRR12_chr19_49586182_49631439 | 49624466 | G | GGTTAGGA others(26): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 322 | 0.0031 | 33 | c.572 others(50): Show |
PRR12 | ENSG00000126464.15 | transcript | ENST00000418929.7 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PRR14L_chr22_31676347_31755132 | 31677604 | A | AAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | NA18968.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0072 | 1 | 316 | 0.0032 | 33 | c.*79 others(44): Show |
PRR14L | ENSG00000183530.14 | transcript | ENST00000327423.11 | protein_coding | 3742 | chr22 | TogoVar | ||||||
PRR14L_chr22_31676347_31755132 | 31677604 | A | AAAAAAAT others(26): Show |
downstream_gene_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0070 | 1 | 316 | 0.0032 | 33 | c.*79 others(44): Show |
PRR14L | ENSG00000183530.14 | transcript | ENST00000327423.11 | protein_coding | 3742 | chr22 | TogoVar | ||||||
PRR14L_chr22_31676347_31755132 | 31677604 | A | AAAAATAT others(26): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0073 | 1 | 316 | 0.0032 | 33 | c.*79 others(44): Show |
PRR14L | ENSG00000183530.14 | transcript | ENST00000327423.11 | protein_coding | 3742 | chr22 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131420493 | C | CTTTCTTT others(26): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01069.hp2 NA18906.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0031 | a0001c0001t0001a0001c0001t0011a0001c0001t0045others(2): Show | a0001c0001t0001g0114a0001c0001t0011g0155a0001c0001t0045g0121others(2): Show | 5 | 216 | 0.0232 | 33 | c.-51 others(50): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131420493 | C | CTTTCTTT others(26): Show |
intron_variant | MODIFIER | HG01255.hp2 NA18951.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0050a0001c0001t0016g0079 | 2 | 216 | 0.0093 | 33 | c.-51 others(50): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131448543 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 216 | 0.0046 | 33 | c.112 others(50): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRRC2C_chr1_171480530_171598511 | 171518495 | T | TTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01167.hp2 HG03704.hp1 |
a0001 | a0001c0005a0001c0031 | a0001c0005t0004a0001c0031t0004 | a0001c0005t0004g0167a0001c0005t0004g0169a0001c0031t0004g0168 | 3 | 336 | 0.0089 | 33 | c.750 others(48): Show |
PRRC2C | ENSG00000117523.18 | transcript | ENST00000647382.2 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRSS55_chr8_10520532_10543819 | 10543415 | T | TTTCTTTT others(26): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0032 | 1 | 480 | 0.0021 | 33 | c.*46 others(44): Show |
PRSS55 | ENSG00000184647.11 | transcript | ENST00000328655.8 | protein_coding | 4597 | chr8 | TogoVar |