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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPH3A_chr12_112786748_112903881 | 112791901 | A | AGAGAGAG others(35): Show |
5_prime_UTR_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0157 | a0001c0003t0157g0006 | 1 | 266 | 0.0038 | 42 | c.-24 others(51): Show |
RPH3A | ENSG00000089169.15 | transcript | ENST00000389385.9 | protein_coding | 1/22 | 36413 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
RPL10_chrX_154393377_154407332 | 154396712 | A | ATATATAT others(35): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0023 | 1 | 276 | 0.0036 | 42 | c.-17 others(53): Show |
RPL10 | ENSG00000147403.18 | transcript | ENST00000369817.7 | protein_coding | 1664 | chrX | TogoVar | ||||||
RPL13_chr16_89555682_89569542 | 89566206 | C | CTGATCGG others(35): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG01123.hp2 HG06807.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001a0002c0003t0001g0001 | 3 | 386 | 0.0078 | 42 | c.*31 others(53): Show |
RPL13 | ENSG00000167526.14 | transcript | ENST00000311528.10 | protein_coding | 1665 | chr16 | TogoVar | ||||||
RPL13_chr16_89555682_89569542 | 89566206 | C | CTGATCGG others(35): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 NA19088.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0001a0001c0002t0002g0002 | 2 | 386 | 0.0052 | 42 | c.*31 others(53): Show |
RPL13 | ENSG00000167526.14 | transcript | ENST00000311528.10 | protein_coding | 1665 | chr16 | TogoVar | ||||||
RPL13_chr16_89555682_89569542 | 89566240 | G | GTGCCCCG others(35): Show |
downstream_gene_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 386 | 0.0026 | 42 | c.*31 others(53): Show |
RPL13 | ENSG00000167526.14 | transcript | ENST00000311528.10 | protein_coding | 1699 | chr16 | TogoVar | ||||||
RPL38_chr17_74198678_74215655 | 74199262 | G | GAGAGAGA others(35): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0017 | 1 | 446 | 0.0022 | 42 | c.-45 others(53): Show |
RPL38 | ENSG00000172809.13 | transcript | ENST00000311111.11 | protein_coding | 4415 | chr17 | TogoVar | ||||||
RPL38_chr17_74198678_74215655 | 74199262 | G | GAGAGAGA others(35): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG01934.hp1 HG03579.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0004g0002a0001c0001t0005g0025 | 5 | 446 | 0.0112 | 42 | c.-45 others(53): Show |
RPL38 | ENSG00000172809.13 | transcript | ENST00000311111.11 | protein_coding | 4415 | chr17 | TogoVar | ||||||
RPL38_chr17_74198678_74215655 | 74199262 | G | GAGAGAGA others(35): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG01993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0002g0002 | 2 | 446 | 0.0045 | 42 | c.-45 others(53): Show |
RPL38 | ENSG00000172809.13 | transcript | ENST00000311111.11 | protein_coding | 4415 | chr17 | TogoVar | ||||||
RPRD1A_chr18_35984824_36072559 | 36008571 | G | GTATATAT others(35): Show |
intron_variant | MODIFIER | HG01346.hp2 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013a0001c0001t0002g0074 | 2 | 318 | 0.0063 | 42 | c.790 others(61): Show |
RPRD1A | ENSG00000141425.18 | transcript | ENST00000399022.9 | protein_coding | 6/6 | chr18 | TogoVar | ||||||
RPRD1A_chr18_35984824_36072559 | 36008575 | G | GTATATAT others(35): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0279a0001c0001t0003g0282 | 2 | 318 | 0.0063 | 42 | c.790 others(61): Show |
RPRD1A | ENSG00000141425.18 | transcript | ENST00000399022.9 | protein_coding | 6/6 | chr18 | TogoVar | ||||||
RPRD1A_chr18_35984824_36072559 | 36008577 | G | GTGTATAT others(35): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0269 | 1 | 318 | 0.0031 | 42 | c.790 others(61): Show |
RPRD1A | ENSG00000141425.18 | transcript | ENST00000399022.9 | protein_coding | 6/6 | chr18 | TogoVar | ||||||
RPRD1A_chr18_35984824_36072559 | 36008577 | G | GTGTGTAT others(35): Show |
intron_variant | MODIFIER | HG00735.hp1 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0186a0001c0001t0004g0230 | 2 | 318 | 0.0063 | 42 | c.790 others(61): Show |
RPRD1A | ENSG00000141425.18 | transcript | ENST00000399022.9 | protein_coding | 6/6 | chr18 | TogoVar | ||||||
RPRD1A_chr18_35984824_36072559 | 36008577 | G | GTGTGTAT others(35): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 318 | 0.0031 | 42 | c.790 others(61): Show |
RPRD1A | ENSG00000141425.18 | transcript | ENST00000399022.9 | protein_coding | 6/6 | chr18 | TogoVar | ||||||
RPRD1A_chr18_35984824_36072559 | 36008577 | G | GTGTGTGT others(35): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262a0001c0001t0001g0263 | 2 | 318 | 0.0063 | 42 | c.790 others(61): Show |
RPRD1A | ENSG00000141425.18 | transcript | ENST00000399022.9 | protein_coding | 6/6 | chr18 | TogoVar | ||||||
RPRD1A_chr18_35984824_36072559 | 36008577 | G | GTGTGTGT others(35): Show |
intron_variant | MODIFIER | HG01952.hp2 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0140a0001c0001t0004g0203 | 2 | 318 | 0.0063 | 42 | c.790 others(61): Show |
RPRD1A | ENSG00000141425.18 | transcript | ENST00000399022.9 | protein_coding | 6/6 | chr18 | TogoVar | ||||||
RPS3_chr11_75394518_75411907 | 75411494 | A | ATTCTCCT others(35): Show |
downstream_gene_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 412 | 0.0024 | 42 | c.*58 others(53): Show |
RPS3 | ENSG00000149273.15 | transcript | ENST00000531188.6 | protein_coding | 4588 | chr11 | TogoVar | ||||||
RPS6KA6_chrX_84053350_84193199 | 84191895 | T | TATATATA others(35): Show |
upstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0205 | 1 | 272 | 0.0037 | 42 | c.-39 others(53): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 3697 | chrX | TogoVar | ||||||
RPS6KC1_chr1_213046241_213279774 | 213118021 | C | CAAAAAAA others(35): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 | 1 | 330 | 0.0030 | 42 | c.472 others(57): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80699700 | T | TAGAGGTG others(35): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG03209.hp2 others(4): Show |
a0001a0002 | a0001c0005a0001c0012a0001c0067others(3): Show | a0001c0005t0026a0001c0005t0067a0001c0012t0018others(4): Show | a0001c0005t0026g0109a0001c0005t0067g0111a0001c0012t0018g0194others(4): Show | 7 | 196 | 0.0357 | 42 | c.349 others(59): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80699760 | T | TGCCCTGG others(35): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01516.hp1 HG02273.hp2 others(3): Show |
a0001 | a0001c0003a0001c0018a0001c0030others(2): Show | a0001c0003t0004a0001c0018t0016a0001c0030t0003others(2): Show | a0001c0003t0004g0119a0001c0018t0016g0120a0001c0030t0003g0115others(3): Show | 6 | 196 | 0.0306 | 42 | c.349 others(59): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80841199 | G | GGCAGCTC others(35): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp1 others(25): Show |
a0001 | a0001c0001a0001c0003a0001c0010others(17): Show | a0001c0001t0092a0001c0003t0001a0001c0003t0013others(22): Show | a0001c0001t0092g0029a0001c0003t0001g0154a0001c0003t0001g0182others(25): Show | 28 | 196 | 0.1429 | 42 | c.121 others(61): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 10/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RRAGD_chr6_89359616_89417273 | 89382400 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 NA18612.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022 | a0001c0001t0002g0009a0001c0001t0002g0129a0001c0001t0022g0249others(1): Show | 5 | 372 | 0.0134 | 42 | c.445 others(59): Show |
RRAGD | ENSG00000025039.15 | transcript | ENST00000369415.9 | protein_coding | 2/6 | chr6 | TogoVar | ||||||
RRAS2_chr11_14272922_14364183 | 14293124 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 | 1 | 279 | 0.0036 | 42 | c.408 others(59): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 4/5 | chr11 | TogoVar | ||||||
RRP7A_chr22_42503344_42524796 | 42509850 | G | GGTGTGTG others(35): Show |
3_prime_UTR_variant | MODIFIER | NA19002.hp1 | a0002 | a0002c0001 | a0002c0001t0067 | a0002c0001t0067g0085 | 1 | 388 | 0.0026 | 42 | c.*30 others(53): Show |
RRP7A | ENSG00000189306.11 | transcript | ENST00000323013.7 | protein_coding | 7/7 | 3059 | chr22 | TogoVar | |||||
RSF1_chr11_77655009_77825722 | 77686408 | C | CAAAAAAA others(35): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0122 | 1 | 352 | 0.0028 | 42 | c.290 others(61): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 9/15 | chr11 | TogoVar | ||||||
RSPH14_chr22_23054415_23146990 | 23106109 | C | CCCGCCAC others(35): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0056 | 1 | 314 | 0.0032 | 42 | c.421 others(61): Show |
RSPH14 | ENSG00000100218.12 | transcript | ENST00000216036.9 | protein_coding | 4/6 | chr22 | TogoVar | ||||||
RSPH14_chr22_23054415_23146990 | 23130496 | A | AAGAAAGA others(35): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01358.hp2 HG02155.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0250a0001c0001t0001g0271a0001c0001t0001g0280others(5): Show | 8 | 314 | 0.0255 | 42 | c.421 others(59): Show |
RSPH14 | ENSG00000100218.12 | transcript | ENST00000216036.9 | protein_coding | 4/6 | chr22 | TogoVar | ||||||
RSPH1_chr21_42467486_42501224 | 42477043 | G | GTGCCCCA others(35): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 408 | 0.0025 | 42 | c.727 others(57): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158106571 | C | CAGAGAGA others(35): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0266 | 1 | 276 | 0.0036 | 42 | c.-36 others(53): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3517 | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158106624 | G | GAGAGAGA others(35): Show |
upstream_gene_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0203 | 1 | 276 | 0.0036 | 42 | c.-36 others(53): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3464 | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158202562 | T | TTATATAT others(35): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 276 | 0.0036 | 42 | c.321 others(57): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RSRC1_chr3_158105089_158550730 | 158202562 | T | TTTTATAT others(35): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0008 | 1 | 276 | 0.0036 | 42 | c.321 others(57): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RSRC1_chr3_158105089_158550730 | 158202562 | T | TTTTATAT others(35): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02922.hp1 NA18944.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0204a0001c0001t0001g0208a0001c0001t0002g0028 | 3 | 276 | 0.0109 | 42 | c.321 others(57): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RSRC1_chr3_158105089_158550730 | 158477798 | T | TTATATAT others(35): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0022 | a0001c0001t0009g0010a0001c0001t0022g0008 | 2 | 276 | 0.0073 | 42 | c.652 others(61): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RSRC1_chr3_158105089_158550730 | 158477798 | T | TTTTATAT others(35): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01981.hp2 HG03195.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0023 | a0001c0001t0002g0229a0001c0001t0002g0242a0001c0001t0007g0037others(3): Show | 6 | 276 | 0.0217 | 42 | c.652 others(61): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RSU1_chr10_16585611_16822424 | 16688879 | G | GTGCCTGT others(35): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02451.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0016a0001c0002t0040others(1): Show | a0001c0002t0006g0132a0001c0002t0016g0012a0001c0002t0040g0063others(1): Show | 4 | 190 | 0.0211 | 42 | c.731 others(59): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 8/8 | chr10 | TogoVar | ||||||
RTEL1_chr20_63653312_63701245 | 63693528 | T | TCCACCTC others(35): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0036 | 1 | 60 | 0.0167 | 42 | c.299 others(59): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
RTL8A_chrX_135045932_135057135 | 135055284 | A | AAAAAATA others(35): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 318 | 0.0031 | 42 | c.-31 others(53): Show |
RTL8A | ENSG00000203950.7 | transcript | ENST00000370775.3 | protein_coding | 3150 | chrX | TogoVar | ||||||
RTP3_chr3_46492976_46505950 | 46493833 | G | GCTCTCCC others(35): Show |
upstream_gene_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 426 | 0.0024 | 42 | c.-42 others(53): Show |
RTP3 | ENSG00000163825.5 | transcript | ENST00000296142.4 | protein_coding | 4142 | chr3 | TogoVar | ||||||
RTP5_chr2_241864729_241878823 | 241873426 | G | GCCCCCCC others(35): Show |
3_prime_UTR_variant | MODIFIER | HG01928.hp2 | a0002 | a0002c0002 | a0002c0002t0028 | a0002c0002t0028g0002 | 1 | 365 | 0.0027 | 42 | c.*15 others(51): Show |
RTP5 | ENSG00000188011.5 | transcript | ENST00000343216.3 | protein_coding | 2/2 | 159 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
RTP5_chr2_241864729_241878823 | 241873426 | G | GCCCCCCG others(35): Show |
3_prime_UTR_variant | MODIFIER | HG00621.hp1 | a0002 | a0002c0002 | a0002c0002t0031 | a0002c0002t0031g0002 | 1 | 365 | 0.0027 | 42 | c.*17 others(51): Show |
RTP5 | ENSG00000188011.5 | transcript | ENST00000343216.3 | protein_coding | 2/2 | 173 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
RUFY1_chr5_179545554_179615012 | 179550512 | T | TGCCCGCC others(35): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG02280.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0018a0001c0002t0002g0328a0001c0002t0002g0344others(7): Show | 10 | 376 | 0.0266 | 42 | c.-58 others(49): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 41 | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179550528 | C | CCCCGCGC others(35): Show |
upstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0375a0001c0002t0002g0376 | 2 | 376 | 0.0053 | 42 | c.-42 others(49): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 25 | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179550536 | C | CCGCCCGC others(35): Show |
upstream_gene_variant | MODIFIER | NA18950.hp1 NA18968.hp2 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045a0001c0001t0001g0071a0001c0001t0001g0075 | 3 | 376 | 0.0080 | 42 | c.-34 others(49): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 17 | chr5 | TogoVar | ||||||
RWDD4_chr4_183634635_183664185 | 183643415 | C | CAAAAAAA others(35): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 480 | 0.0021 | 42 | c.535 others(59): Show |
RWDD4 | ENSG00000182552.15 | transcript | ENST00000326397.10 | protein_coding | 7/7 | chr4 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237237945 | C | CCCTTTCC others(35): Show |
intron_variant | MODIFIER | HG01081.hp2 HG03579.hp1 |
a0001 | a0001c0003a0001c0049 | a0001c0003t0001a0001c0049t0009 | a0001c0003t0001g0063a0001c0049t0009g0044 | 2 | 100 | 0.0200 | 42 | c.49- others(59): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RYR2_chr1_237037184_237838988 | 237408392 | T | TTATATAT others(35): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0031 | a0002c0031t0025 | a0002c0031t0025g0056 | 1 | 100 | 0.0100 | 42 | c.774 others(59): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 10/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RYR2_chr1_237037184_237838988 | 237473442 | T | TTTCTTTC others(35): Show |
intron_variant | MODIFIER | HG01496.hp2 NA20300.hp1 |
a0001 | a0001c0003a0001c0047 | a0001c0003t0003a0001c0047t0002 | a0001c0003t0003g0084a0001c0047t0002g0077 | 2 | 100 | 0.0200 | 42 | c.170 others(61): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 17/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RYR3_chr15_33305967_33871102 | 33379687 | C | CTCTCTCT others(35): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0010 | a0010c0055 | a0010c0055t0005 | a0010c0055t0005g0061 | 1 | 154 | 0.0065 | 42 | c.51+ others(59): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
RYR3_chr15_33305967_33871102 | 33794348 | A | ACATATAT others(35): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(71): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0002a0001c0003others(53): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(63): Show | a0001c0001t0001g0044a0001c0001t0001g0096a0001c0001t0001g0140others(71): Show | 74 | 154 | 0.4805 | 42 | c.983 others(61): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 67/103 | chr15 | TogoVar |