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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPL10_chrX_154393377_154407332 | 154396712 | A | ATATATAT others(41): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 276 | 0.0036 | 48 | c.-17 others(59): Show |
RPL10 | ENSG00000147403.18 | transcript | ENST00000369817.7 | protein_coding | 1664 | chrX | TogoVar | |||||||
RPL23_chr17_38842860_38858721 | 38842871 | G | GTCTGTCT others(41): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp1 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0005 a0001c0001t0006g0006 |
3 | 418 | 0.0072 | 48 | c.*72 others(59): Show |
RPL23 | ENSG00000125691.14 | transcript | ENST00000479035.7 | protein_coding | 4988 | chr17 | TogoVar | |||||||
RPL38_chr17_74198678_74215655 | 74199262 | G | GAGAGAGA others(41): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0066 | 1 | 446 | 0.0022 | 48 | c.-45 others(59): Show |
RPL38 | ENSG00000172809.13 | transcript | ENST00000311111.11 | protein_coding | 4415 | chr17 | TogoVar | |||||||
RPL5_chr1_92827040_92846924 | 92846848 | T | TATACACA others(41): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 331 | 0.0030 | 48 | c.*49 others(59): Show |
RPL5 | ENSG00000122406.14 | transcript | ENST00000370321.8 | protein_coding | 4925 | chr1 | TogoVar | |||||||
RPRD1A_chr18_35984824_36072559 | 36008577 | G | GTGTGTAT others(41): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02071.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010 | a0001c0001t0001g0153 a0001c0001t0001g0226 a0001c0001t0001g0244 others(5): Show |
8 | 318 | 0.0252 | 48 | c.790 others(67): Show |
RPRD1A | ENSG00000141425.18 | transcript | ENST00000399022.9 | protein_coding | 6/6 | chr18 | TogoVar | |||||||
RPRD1A_chr18_35984824_36072559 | 36008577 | G | GTGTGTAT others(41): Show |
intron_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 318 | 0.0031 | 48 | c.790 others(67): Show |
RPRD1A | ENSG00000141425.18 | transcript | ENST00000399022.9 | protein_coding | 6/6 | chr18 | TogoVar | |||||||
RPRD1A_chr18_35984824_36072559 | 36008577 | G | GTGTGTAT others(41): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 318 | 0.0031 | 48 | c.790 others(67): Show |
RPRD1A | ENSG00000141425.18 | transcript | ENST00000399022.9 | protein_coding | 6/6 | chr18 | TogoVar | |||||||
RPRD1A_chr18_35984824_36072559 | 36008577 | G | GTGTGTGT others(41): Show |
intron_variant | MODIFIER | HG02683.hp2 HG02698.hp1 HG02698.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012 | a0001c0001t0001g0189 a0001c0001t0001g0204 a0001c0001t0001g0208 others(2): Show |
5 | 318 | 0.0157 | 48 | c.790 others(67): Show |
RPRD1A | ENSG00000141425.18 | transcript | ENST00000399022.9 | protein_coding | 6/6 | chr18 | TogoVar | |||||||
RPRD1A_chr18_35984824_36072559 | 36008577 | G | GTGTGTGT others(41): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 318 | 0.0031 | 48 | c.790 others(67): Show |
RPRD1A | ENSG00000141425.18 | transcript | ENST00000399022.9 | protein_coding | 6/6 | chr18 | TogoVar | |||||||
RPRD1A_chr18_35984824_36072559 | 36008577 | G | GTGTGTGT others(41): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0177 | 1 | 318 | 0.0031 | 48 | c.790 others(67): Show |
RPRD1A | ENSG00000141425.18 | transcript | ENST00000399022.9 | protein_coding | 6/6 | chr18 | TogoVar | |||||||
RPS6KB2_chr11_67423494_67440401 | 67430720 | C | CACTGCGC others(41): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 378 | 0.0027 | 48 | c.310 others(63): Show |
RPS6KB2 | ENSG00000175634.15 | transcript | ENST00000312629.10 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RPS6KC1_chr1_213046241_213279774 | 213205536 | T | TTATATAT others(41): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0230 | 1 | 330 | 0.0030 | 48 | c.104 others(69): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80876081 | G | GTGTGTGT others(41): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0071 | a0001c0071t0088 | a0001c0071t0088g0035 | 1 | 196 | 0.0051 | 48 | c.151 others(67): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 13/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80876081 | G | GTGTGTGT others(41): Show |
intron_variant | MODIFIER | HG03486.hp2 NA18980.hp1 |
a0001 | a0001c0006 | a0001c0006t0022a0001c0006t0082 | a0001c0006t0022g0090 a0001c0006t0082g0015 |
2 | 196 | 0.0102 | 48 | c.151 others(67): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 13/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80876133 | G | GTGTGTCA others(41): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01070.hp1 HG01074.hp2 others(45): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0006others(19): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(37): Show | a0001c0001t0002g0038 a0001c0001t0005g0042 a0001c0001t0005g0044 others(45): Show |
48 | 196 | 0.2449 | 48 | c.151 others(67): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 13/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80876946 | T | TCAGGGTG others(41): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00735.hp2 HG01070.hp1 others(49): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0006others(21): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(41): Show | a0001c0001t0002g0038 a0001c0001t0005g0042 a0001c0001t0005g0044 others(49): Show |
52 | 196 | 0.2653 | 48 | c.151 others(67): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 13/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RRP7A_chr22_42503344_42524796 | 42509848 | G | GGTGTGTG others(41): Show |
3_prime_UTR_variant | MODIFIER | HG01069.hp2 | a0003 | a0003c0004 | a0003c0004t0128 | a0003c0004t0128g0208 | 1 | 388 | 0.0026 | 48 | c.*30 others(59): Show |
RRP7A | ENSG00000189306.11 | transcript | ENST00000323013.7 | protein_coding | 7/7 | 3061 | chr22 | TogoVar | ||||||
RSAD1_chr17_50473860_50490974 | 50476078 | C | CCAGCGCG others(41): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02895.hp2 others(1): Show |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0003a0003c0004t0006 | a0001c0003t0003g0010 a0003c0004t0006g0008 a0003c0004t0006g0025 |
4 | 382 | 0.0105 | 48 | c.-28 others(59): Show |
RSAD1 | ENSG00000136444.10 | transcript | ENST00000258955.7 | protein_coding | 2781 | chr17 | TogoVar | |||||||
RSAD1_chr17_50473860_50490974 | 50476102 | C | CCAGCGCG others(41): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0003 | 1 | 382 | 0.0026 | 48 | c.-27 others(59): Show |
RSAD1 | ENSG00000136444.10 | transcript | ENST00000258955.7 | protein_coding | 2757 | chr17 | TogoVar | |||||||
RSAD1_chr17_50473860_50490974 | 50476150 | G | GCAGCGCG others(41): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01099.hp1 others(23): Show |
a0001a0002 | a0001c0003a0001c0010a0002c0001 | a0001c0003t0002a0001c0003t0003a0001c0010t0003others(1): Show | a0001c0003t0002g0003 a0001c0003t0003g0009 a0001c0003t0003g0010 others(9): Show |
26 | 382 | 0.0681 | 48 | c.-27 others(59): Show |
RSAD1 | ENSG00000136444.10 | transcript | ENST00000258955.7 | protein_coding | 2709 | chr17 | TogoVar | |||||||
RSAD1_chr17_50473860_50490974 | 50476222 | G | GCAGCGCG others(41): Show |
upstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0009 | 1 | 382 | 0.0026 | 48 | c.-26 others(59): Show |
RSAD1 | ENSG00000136444.10 | transcript | ENST00000258955.7 | protein_coding | 2637 | chr17 | TogoVar | |||||||
RSAD1_chr17_50473860_50490974 | 50476342 | G | GCAGCGCG others(41): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0003 | 1 | 382 | 0.0026 | 48 | c.-25 others(59): Show |
RSAD1 | ENSG00000136444.10 | transcript | ENST00000258955.7 | protein_coding | 2517 | chr17 | TogoVar | |||||||
RSPRY1_chr16_57181329_57245469 | 57200652 | G | GGGCTGGG others(41): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0287 | 1 | 358 | 0.0028 | 48 | c.-15 others(67): Show |
RSPRY1 | ENSG00000159579.14 | transcript | ENST00000394420.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RSPRY1_chr16_57181329_57245469 | 57200661 | G | GCTGACCC others(41): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(334): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(333): Show |
337 | 358 | 0.9413 | 48 | c.-15 others(67): Show |
RSPRY1 | ENSG00000159579.14 | transcript | ENST00000394420.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RSPRY1_chr16_57181329_57245469 | 57200661 | G | GCTGACCC others(41): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01070.hp2 HG01515.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0021 | a0001c0001t0006g0129 a0001c0001t0006g0133 a0001c0001t0006g0142 others(4): Show |
7 | 358 | 0.0196 | 48 | c.-15 others(67): Show |
RSPRY1 | ENSG00000159579.14 | transcript | ENST00000394420.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158202562 | T | TTATATAT others(41): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 276 | 0.0036 | 48 | c.321 others(63): 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(41): Show |
intron_variant | MODIFIER | HG01243.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0173 a0001c0001t0002g0024 |
2 | 276 | 0.0073 | 48 | c.321 others(63): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158477798 | T | TTTTATAT others(41): Show |
intron_variant | MODIFIER | HG02056.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0237 a0001c0001t0011g0089 |
2 | 276 | 0.0073 | 48 | c.652 others(67): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSU1_chr10_16585611_16822424 | 16722855 | T | TATACATA others(41): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0088 | 1 | 190 | 0.0053 | 48 | c.599 others(67): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 7/8 | chr10 | TogoVar | |||||||
RSU1_chr10_16585611_16822424 | 16722855 | T | TATACATA others(41): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0061 | 1 | 190 | 0.0053 | 48 | c.599 others(67): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 7/8 | chr10 | TogoVar | |||||||
RSU1_chr10_16585611_16822424 | 16785431 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0075 | 1 | 190 | 0.0053 | 48 | c.110 others(65): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 2/8 | chr10 | TogoVar | |||||||
RTEL1_chr20_63653312_63701245 | 63693459 | A | ACCACCTC others(41): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0032 | 1 | 60 | 0.0167 | 48 | c.299 others(65): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RTEL1_chr20_63653312_63701245 | 63693531 | A | ACCACCTC others(41): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 60 | 0.0167 | 48 | c.299 others(65): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112236398 | A | AATATAGA others(41): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02717.hp1 HG03139.hp1 others(6): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0002a0001c0002t0018a0001c0003t0005others(3): Show | a0001c0002t0002g0060 a0001c0002t0018g0126 a0001c0003t0005g0016 others(6): Show |
9 | 134 | 0.0672 | 48 | c.-44 others(69): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL5_chrX_72122110_72136915 | 72128397 | C | CAGTGTCC others(41): Show |
3_prime_UTR_variant | MODIFIER | NA19077.hp2 | a0002 | a0002c0002 | a0002c0002t0027 | a0002c0002t0027g0000 | 1 | 308 | 0.0033 | 48 | c.*13 others(59): Show |
RTL5 | ENSG00000242732.6 | transcript | ENST00000609883.3 | protein_coding | 1/1 | 1433 | chrX | TogoVar | ||||||
RTN1_chr14_59590983_59875776 | 59606125 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 a0001c0001t0001g0135 |
2 | 172 | 0.0116 | 48 | c.197 others(65): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 4/8 | chr14 | TogoVar | |||||||
RTN1_chr14_59590983_59875776 | 59750212 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00639.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 others(20): Show |
23 | 172 | 0.1337 | 48 | c.242 others(65): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RTN4IP1_chr6_106565771_106634498 | 106582587 | T | TATAAGTC others(41): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 396 | 0.0025 | 48 | c.108 others(65): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 8/8 | chr6 | TogoVar | |||||||
RTP3_chr3_46492976_46505950 | 46493833 | G | GCTCTCCC others(41): Show |
upstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 426 | 0.0024 | 48 | c.-42 others(59): Show |
RTP3 | ENSG00000163825.5 | transcript | ENST00000296142.4 | protein_coding | 4142 | chr3 | TogoVar | |||||||
RTP3_chr3_46492976_46505950 | 46493833 | G | GCTCTCGC others(41): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 426 | 0.0024 | 48 | c.-42 others(59): Show |
RTP3 | ENSG00000163825.5 | transcript | ENST00000296142.4 | protein_coding | 4142 | chr3 | TogoVar | |||||||
RTP5_chr2_241864729_241878823 | 241878107 | G | GCCCCCCC others(41): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0002 | 1 | 365 | 0.0027 | 48 | c.*48 others(59): Show |
RTP5 | ENSG00000188011.5 | transcript | ENST00000343216.3 | protein_coding | 4285 | chr2 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626091 | T | TATATATA others(41): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0095 | 1 | 202 | 0.0050 | 48 | c.-27 others(59): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2306 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626348 | T | TATATATG others(41): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0043 | 1 | 202 | 0.0050 | 48 | c.-24 others(59): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2049 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87715251 | T | TATTATAT others(41): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03139.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0025a0001c0001t0075 | a0001c0001t0024g0003 a0001c0001t0025g0004 a0001c0001t0075g0006 |
3 | 202 | 0.0149 | 48 | c.458 others(65): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38502786 | C | CAGGGGGA others(41): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0035 | a0001c0035t0001 | a0001c0035t0001g0113 | 1 | 218 | 0.0046 | 48 | c.783 others(63): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38502792 | C | CAGGGGCA others(41): Show |
intron_variant | MODIFIER | NA18955.hp1 NA18970.hp2 |
a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0074 a0001c0029t0001g0083 |
2 | 218 | 0.0092 | 48 | c.783 others(63): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38502798 | C | CAGGGGCA others(41): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0116 | a0001c0116t0001 | a0001c0116t0001g0121 | 1 | 218 | 0.0046 | 48 | c.783 others(63): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237307920 | T | TTTGAGTG others(41): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG01074.hp1 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0003a0001c0001t0041a0001c0002t0013others(20): Show | a0001c0001t0003g0023 a0001c0001t0003g0089 a0001c0001t0041g0001 others(22): Show |
25 | 100 | 0.2500 | 48 | c.169 others(67): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 2/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237307920 | T | TTTGAGTG others(41): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0007 | a0007c0046 | a0007c0046t0010 | a0007c0046t0010g0080 | 1 | 100 | 0.0100 | 48 | c.169 others(67): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 2/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237307920 | T | TTTGAGTG others(41): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0015 | a0001c0015t0006 | a0001c0015t0006g0034 | 1 | 100 | 0.0100 | 48 | c.169 others(67): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 2/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |