| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CPAMD8_chr19_16887951_17031810 | 16967893 | G | GTGTGTAT others(23): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01099.hp2 HG01168.hp2 others(35): Show |
a0001a0002a0003others(22): Show | a0001c0001a0002c0017a0003c0002others(28): Show | a0001c0001t0002a0002c0017t0001a0003c0002t0002others(28): Show | a0001c0001t0002g0277a0002c0017t0001g0112a0003c0002t0002g0196others(35): Show | 38 | 278 | 0.1367 | 30 | c.221 others(49): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 18/41 | chr19 | TogoVar | ||||||
| CPAMD8_chr19_16887951_17031810 | 17013512 | A | AAAAATAA others(23): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01168.hp1 HG01169.hp1 others(26): Show |
a0001a0002a0003others(16): Show | a0001c0001a0002c0019a0002c0058others(20): Show | a0001c0001t0002a0002c0019t0001a0002c0058t0002others(20): Show | a0001c0001t0002g0185a0002c0019t0001g0139a0002c0058t0002g0149others(26): Show | 29 | 278 | 0.1043 | 30 | c.268 others(47): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 3/41 | chr19 | TogoVar | ||||||
| CPB1_chr3_148822811_148865187 | 148846797 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 456 | 0.0022 | 30 | c.981 others(47): Show |
CPB1 | ENSG00000153002.12 | transcript | ENST00000282957.9 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CPB2_chr13_46048186_46110033 | 46108157 | T | TTATATAT others(23): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG00738.hp1 HG01993.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0160a0002c0002t0001g0108a0002c0002t0002g0002others(13): Show | 18 | 330 | 0.0546 | 30 | c.-31 others(41): Show |
CPB2 | ENSG00000080618.17 | transcript | ENST00000181383.10 | protein_coding | 3125 | chr13 | TogoVar | ||||||
| CPD_chr17_30373927_30474989 | 30470256 | C | CACACGTG others(23): Show |
downstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 296 | 0.0034 | 30 | c.*54 others(41): Show |
CPD | ENSG00000108582.12 | transcript | ENST00000225719.9 | protein_coding | 268 | chr17 | TogoVar | ||||||
| CPD_chr17_30373927_30474989 | 30470278 | T | TACATACA others(23): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 | 1 | 296 | 0.0034 | 30 | c.*54 others(41): Show |
CPD | ENSG00000108582.12 | transcript | ENST00000225719.9 | protein_coding | 290 | chr17 | TogoVar | ||||||
| CPLX1_chr4_779957_831129 | 826466 | C | CGGGGCGG others(23): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0337 | 1 | 416 | 0.0024 | 30 | c.-50 others(39): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 338 | chr4 | TogoVar | ||||||
| CPLX2_chr5_175866578_175889021 | 175871410 | G | GGAGAGAG others(23): Show |
upstream_gene_variant | MODIFIER | HG01071.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0002g0019 | 2 | 378 | 0.0053 | 30 | c.-38 others(39): Show |
CPLX2 | ENSG00000145920.15 | transcript | ENST00000393745.8 | protein_coding | 167 | chr5 | TogoVar | ||||||
| CPLX2_chr5_175866578_175889021 | 175871433 | C | CAGAGAGA others(23): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0008 | 1 | 378 | 0.0027 | 30 | c.-36 others(39): Show |
CPLX2 | ENSG00000145920.15 | transcript | ENST00000393745.8 | protein_coding | 144 | chr5 | TogoVar | ||||||
| CPLX2_chr5_175866578_175889021 | 175871433 | C | CAGAGAGA others(23): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 378 | 0.0027 | 30 | c.-36 others(39): Show |
CPLX2 | ENSG00000145920.15 | transcript | ENST00000393745.8 | protein_coding | 144 | chr5 | TogoVar | ||||||
| CPLX2_chr5_175866578_175889021 | 175871452 | A | AGAGAGAG others(23): Show |
upstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 378 | 0.0027 | 30 | c.-34 others(39): Show |
CPLX2 | ENSG00000145920.15 | transcript | ENST00000393745.8 | protein_coding | 125 | chr5 | TogoVar | ||||||
| CPLX2_chr5_175866578_175889021 | 175871458 | A | AGAGAGAG others(23): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 378 | 0.0027 | 30 | c.-33 others(39): Show |
CPLX2 | ENSG00000145920.15 | transcript | ENST00000393745.8 | protein_coding | 119 | chr5 | TogoVar | ||||||
| CPLX2_chr5_175866578_175889021 | 175871458 | A | AGAGAGAG others(23): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0002 | 1 | 378 | 0.0027 | 30 | c.-33 others(39): Show |
CPLX2 | ENSG00000145920.15 | transcript | ENST00000393745.8 | protein_coding | 119 | chr5 | TogoVar | ||||||
| CPLX2_chr5_175866578_175889021 | 175871464 | A | AGAGAGAG others(23): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 NA18969.hp2 NA19054.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0019a0002c0002t0004 | a0001c0001t0004g0004a0001c0001t0019g0004a0002c0002t0004g0004 | 4 | 378 | 0.0106 | 30 | c.-33 others(39): Show |
CPLX2 | ENSG00000145920.15 | transcript | ENST00000393745.8 | protein_coding | 113 | chr5 | TogoVar | ||||||
| CPM_chr12_68846175_68938171 | 68847196 | T | TTATATAT others(23): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00639.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0066a0001c0002t0001others(9): Show | a0001c0001t0001g0189a0001c0001t0001g0207a0001c0001t0001g0230others(15): Show | 18 | 340 | 0.0529 | 30 | c.*92 others(41): Show |
CPM | ENSG00000135678.12 | transcript | ENST00000551568.6 | protein_coding | 3978 | chr12 | TogoVar | ||||||
| CPM_chr12_68846175_68938171 | 68847210 | A | ATATATAT others(23): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 HG03225.hp2 |
a0001a0002 | a0001c0006a0002c0003 | a0001c0006t0012a0002c0003t0015 | a0001c0006t0012g0241a0002c0003t0015g0332 | 2 | 340 | 0.0059 | 30 | c.*92 others(41): Show |
CPM | ENSG00000135678.12 | transcript | ENST00000551568.6 | protein_coding | 3964 | chr12 | TogoVar | ||||||
| CPNE4_chr3_131528569_132040014 | 131978048 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 94 | 0.0106 | 30 | c.-2+ others(47): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
| CPNE7_chr16_89570758_89602246 | 89598099 | C | CCCATCCC others(23): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0292 | 1 | 348 | 0.0029 | 30 | c.*14 others(41): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 854 | chr16 | TogoVar | ||||||
| CPNE8_chr12_38647203_38910591 | 38704826 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01074.hp2 HG01433.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0010 | a0001c0002t0002g0005a0001c0002t0002g0019a0001c0002t0002g0034others(8): Show | 11 | 342 | 0.0322 | 30 | c.915 others(47): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 13/19 | chr12 | TogoVar | ||||||
| CPNE8_chr12_38647203_38910591 | 38717429 | G | GTGTATAT others(23): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 342 | 0.0029 | 30 | c.914 others(47): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 13/19 | chr12 | TogoVar | ||||||
| CPNE8_chr12_38647203_38910591 | 38760435 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02486.hp2 HG02572.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0007a0002c0005t0001 | a0001c0001t0001g0234a0001c0001t0001g0239a0001c0001t0001g0332others(2): Show | 5 | 342 | 0.0146 | 30 | c.722 others(45): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 10/19 | chr12 | TogoVar | ||||||
| CPNE8_chr12_38647203_38910591 | 38902417 | A | AAGAAAGA others(23): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 342 | 0.0029 | 30 | c.98+ others(45): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 1/19 | chr12 | TogoVar | ||||||
| CPNE9_chr3_9698833_9734908 | 9731752 | T | TCGCCGCC others(23): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0329 | 1 | 440 | 0.0023 | 30 | c.*20 others(41): Show |
CPNE9 | ENSG00000144550.14 | transcript | ENST00000383832.8 | protein_coding | 1845 | chr3 | TogoVar | ||||||
| CPPED1_chr16_12654799_12808887 | 12766256 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0154 | 1 | 290 | 0.0035 | 30 | c.289 others(49): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 2/3 | chr16 | TogoVar | ||||||
| CPQ_chr8_96640242_97148501 | 96730866 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 126 | 0.0079 | 30 | c.-34 others(49): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CPQ_chr8_96640242_97148501 | 96737355 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 126 | 0.0079 | 30 | c.-34 others(49): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CPQ_chr8_96640242_97148501 | 96926576 | C | CTCTTCCT others(23): Show |
intron_variant | MODIFIER | NA19060.hp2 NA19088.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049a0001c0002t0001g0101 | 2 | 126 | 0.0159 | 30 | c.850 others(49): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CPQ_chr8_96640242_97148501 | 96926576 | C | CTCTTCCT others(23): Show |
intron_variant | MODIFIER | NA18979.hp1 NA19057.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0097a0001c0002t0001g0106 | 2 | 126 | 0.0159 | 30 | c.850 others(49): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CPQ_chr8_96640242_97148501 | 96926576 | C | CTCTTCCT others(23): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02004.hp1 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0034a0001c0001t0002g0011a0001c0001t0002g0012 | 3 | 126 | 0.0238 | 30 | c.850 others(49): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CPQ_chr8_96640242_97148501 | 96926576 | C | CTCTTCTT others(23): Show |
intron_variant | MODIFIER | HG03195.hp1 HG04184.hp2 NA18945.hp2 others(1): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0011 | a0001c0001t0001a0001c0002t0001a0008c0011t0002 | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0002t0001g0124others(1): Show | 4 | 126 | 0.0318 | 30 | c.850 others(49): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CPSF2_chr14_92116969_92177145 | 92173331 | A | ATATATAT others(23): Show |
downstream_gene_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 388 | 0.0026 | 30 | c.*11 others(43): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 1187 | chr14 | TogoVar | ||||||
| CPSF2_chr14_92116969_92177145 | 92173388 | T | TACATATG others(23): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0113 | a0001c0001t0113g0253 | 1 | 388 | 0.0026 | 30 | c.*11 others(43): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 1244 | chr14 | TogoVar | ||||||
| CPSF6_chr12_69234569_69279358 | 69236163 | C | CTAAAATA others(23): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0182 | 1 | 392 | 0.0026 | 30 | c.-34 others(41): Show |
CPSF6 | ENSG00000111605.18 | transcript | ENST00000435070.7 | protein_coding | 3405 | chr12 | TogoVar | ||||||
| CPSF6_chr12_69234569_69279358 | 69236174 | A | ATAGCATA others(23): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0045 | 1 | 392 | 0.0026 | 30 | c.-34 others(41): Show |
CPSF6 | ENSG00000111605.18 | transcript | ENST00000435070.7 | protein_coding | 3394 | chr12 | TogoVar | ||||||
| CPSF6_chr12_69234569_69279358 | 69236204 | A | ATAGCATA others(23): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0265 | 1 | 392 | 0.0026 | 30 | c.-34 others(41): Show |
CPSF6 | ENSG00000111605.18 | transcript | ENST00000435070.7 | protein_coding | 3364 | chr12 | TogoVar | ||||||
| CPSF6_chr12_69234569_69279358 | 69236234 | A | ATAGCATA others(23): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG01167.hp1 HG01169.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0017 | a0001c0001t0002g0006a0001c0001t0002g0007a0001c0001t0002g0060others(5): Show | 9 | 392 | 0.0230 | 30 | c.-34 others(41): Show |
CPSF6 | ENSG00000111605.18 | transcript | ENST00000435070.7 | protein_coding | 3334 | chr12 | TogoVar | ||||||
| CPSF6_chr12_69234569_69279358 | 69236324 | G | GTAGCATA others(23): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 HG02148.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0057 | a0001c0001t0002g0050a0001c0001t0009g0202a0001c0001t0057g0226 | 3 | 392 | 0.0077 | 30 | c.-33 others(41): Show |
CPSF6 | ENSG00000111605.18 | transcript | ENST00000435070.7 | protein_coding | 3244 | chr12 | TogoVar | ||||||
| CPXM2_chr10_123740639_123896807 | 123881225 | A | ACCCTCCC others(23): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 288 | 0.0035 | 30 | c.305 others(45): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 1/13 | chr10 | TogoVar | ||||||
| CPXM2_chr10_123740639_123896807 | 123881225 | A | ACCCTCCC others(23): Show |
intron_variant | MODIFIER | HG01168.hp1 HG04228.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0062a0001c0003t0001g0064 | 2 | 288 | 0.0069 | 30 | c.305 others(45): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 1/13 | chr10 | TogoVar | ||||||
| CPXM2_chr10_123740639_123896807 | 123881232 | T | TCTTCCCT others(23): Show |
intron_variant | MODIFIER | NA19000.hp1 NA19058.hp1 |
a0001 | a0001c0004a0001c0013 | a0001c0004t0001a0001c0013t0018 | a0001c0004t0001g0212a0001c0013t0018g0213 | 2 | 288 | 0.0069 | 30 | c.305 others(45): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 1/13 | chr10 | TogoVar | ||||||
| CR1L_chr1_207640133_207728703 | 207683010 | T | TTCTTTCT others(23): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0285 | 1 | 346 | 0.0029 | 30 | c.378 others(45): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CR1_chr1_207491157_207646765 | 207617507 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0129 | 1 | 360 | 0.0028 | 30 | c.689 others(47): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CR1_chr1_207491157_207646765 | 207617507 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG00099.hp2 NA18994.hp1 NA19002.hp1 |
a0004a0005 | a0004c0004a0005c0005 | a0004c0004t0001a0005c0005t0002 | a0004c0004t0001g0098a0005c0005t0002g0325a0005c0005t0002g0350 | 3 | 360 | 0.0083 | 30 | c.689 others(47): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CR1_chr1_207491157_207646765 | 207617507 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02486.hp1 HG03831.hp2 others(1): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0001a0005c0005t0002 | a0002c0002t0001g0168a0002c0002t0001g0203a0005c0005t0002g0313others(1): Show | 4 | 360 | 0.0111 | 30 | c.689 others(47): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CR1_chr1_207491157_207646765 | 207617507 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02083.hp1 HG03654.hp2 others(1): Show |
a0002a0004a0005 | a0002c0002a0004c0004a0005c0005 | a0002c0002t0001a0004c0004t0003a0005c0005t0002 | a0002c0002t0001g0212a0004c0004t0003g0116a0005c0005t0002g0328others(1): Show | 4 | 360 | 0.0111 | 30 | c.689 others(47): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CR1_chr1_207491157_207646765 | 207617507 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0122 | 1 | 360 | 0.0028 | 30 | c.689 others(47): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CR2_chr1_207449328_207494892 | 207458075 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0187 | 1 | 378 | 0.0027 | 30 | c.58+ others(45): Show |
CR2 | ENSG00000117322.19 | transcript | ENST00000367057.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CR2_chr1_207449328_207494892 | 207458077 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 NA19011.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0181a0001c0003t0001g0182a0001c0003t0001g0183 | 3 | 378 | 0.0079 | 30 | c.58+ others(45): Show |
CR2 | ENSG00000117322.19 | transcript | ENST00000367057.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CRACDL_chr2_98788846_98941225 | 98795040 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 316 | 0.0032 | 30 | c.275 others(47): Show |
CRACDL | ENSG00000196872.12 | transcript | ENST00000397899.7 | protein_coding | 9/9 | chr2 | TogoVar | ||||||
| CRACD_chr4_56044098_56335609 | 56070847 | C | CTGTGTGT others(23): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0005 | a0005c0005 | a0005c0005t0007 | a0005c0005t0007g0055 | 1 | 250 | 0.0040 | 30 | c.-33 others(51): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |