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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2335): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0008 | a0008c0018 | a0008c0018t0001 | a0008c0018t0001g0089 | 1 | 276 | 0.0036 | 2342 | c.58- others(2359): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2335): Show |
downstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2342 | c.*44 others(2353): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35913964 | T | TAGTGAGT others(2335): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 420 | 0.0024 | 2342 | c.*32 others(2353): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar | ||||||
TECTA_chr11_121096243_121196490 | 121186127 | T | TAATGAAT others(2335): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0173 | 1 | 348 | 0.0029 | 2342 | c.600 others(2361): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TMEM242_chr6_157284025_157328519 | 157311861 | C | CGCTCACC others(2335): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0073 | 1 | 344 | 0.0029 | 2342 | c.327 others(2359): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157312131 | T | TGCACTAA others(2335): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0323 | 1 | 344 | 0.0029 | 2342 | c.327 others(2359): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917315 | G | GGAGGCTG others(2335): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0097 | 1 | 344 | 0.0029 | 2342 | c.218 others(2357): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
YES1_chr18_716588_817242 | 791087 | T | TAAAAATA others(2335): Show |
intron_variant | MODIFIER | NA18964.hp1 NA19058.hp2 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013 | a0001c0001t0003g0053a0001c0001t0003g0055a0001c0001t0013g0054 | 3 | 376 | 0.0080 | 2342 | c.-9+ others(2359): Show |
YES1 | ENSG00000176105.14 | transcript | ENST00000314574.5 | protein_coding | 1/11 | chr18 | TogoVar | ||||||
YES1_chr18_716588_817242 | 791087 | T | TAAAAATA others(2335): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0065 | 1 | 376 | 0.0027 | 2342 | c.-9+ others(2359): Show |
YES1 | ENSG00000176105.14 | transcript | ENST00000314574.5 | protein_coding | 1/11 | chr18 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411302 | T | TCACTGCT others(2336): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0083a0001c0001t0084 | a0001c0001t0083g0162a0001c0001t0084g0163 | 2 | 322 | 0.0062 | 2343 | c.-23 others(2354): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2156 | chr19 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2336): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG02080.hp2 others(7): Show |
a0001a0004 | a0001c0001a0001c0008a0004c0004 | a0001c0001t0001a0001c0008t0001a0004c0004t0001 | a0001c0001t0001g0008a0001c0001t0001g0036a0001c0001t0001g0057others(4): Show | 10 | 390 | 0.0256 | 2343 | c.972 others(2356): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2336): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 390 | 0.0026 | 2343 | c.972 others(2356): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
RAB3B_chr1_51902956_51995700 | 51906869 | A | AAGGGAAG others(2336): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0003 | 1 | 62 | 0.0161 | 2343 | c.*13 others(2356): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1086 | chr1 | TogoVar | ||||||
SCUBE2_chr11_9014476_9096599 | 9082987 | T | TAAAAAGT others(2336): Show |
intron_variant | MODIFIER | HG01517.hp2 HG02698.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0002 | a0001c0001t0003g0298a0003c0003t0002g0130 | 2 | 358 | 0.0056 | 2343 | c.257 others(2360): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 2/22 | chr11 | TogoVar | ||||||
YES1_chr18_716588_817242 | 791087 | T | TAAAAATA others(2336): Show |
intron_variant | MODIFIER | HG00423.hp1 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056a0001c0001t0003g0059 | 2 | 376 | 0.0053 | 2343 | c.-9+ others(2360): Show |
YES1 | ENSG00000176105.14 | transcript | ENST00000314574.5 | protein_coding | 1/11 | chr18 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2337): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 104 | 0.0096 | 2344 | c.354 others(2363): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2337): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0009 | 1 | 104 | 0.0096 | 2344 | c.354 others(2363): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2337): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 | 1 | 104 | 0.0096 | 2344 | c.354 others(2363): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2337): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0047 | 1 | 104 | 0.0096 | 2344 | c.354 others(2363): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2337): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 104 | 0.0096 | 2344 | c.354 others(2363): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169685706 | T | TAAGTTTT others(2337): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0112a0001c0001t0003g0113 | 2 | 390 | 0.0051 | 2344 | c.68- others(2359): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2337): Show |
downstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 345 | 0.0029 | 2344 | c.*17 others(2355): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2337): Show |
downstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 345 | 0.0029 | 2344 | c.*17 others(2355): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2337): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 421 | 0.0024 | 2344 | c.*22 others(2355): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2337): Show |
downstream_gene_variant | MODIFIER | NA18955.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003 | 2 | 421 | 0.0048 | 2344 | c.*22 others(2355): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | ||||||
SLC10A7_chr4_146248981_146526940 | 146286440 | C | CTGGAGTG others(2337): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01106.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0028a0001c0001t0006g0029a0001c0001t0006g0030 | 3 | 244 | 0.0123 | 2344 | c.774 others(2361): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | ||||||
SLC10A7_chr4_146248981_146526940 | 146286440 | C | CTGGAGTG others(2337): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0242 | 1 | 244 | 0.0041 | 2344 | c.774 others(2361): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | ||||||
SLC10A7_chr4_146248981_146526940 | 146286440 | C | CTGGAGTG others(2337): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02615.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0006a0001c0001t0009a0004c0005t0006 | a0001c0001t0006g0070a0001c0001t0006g0088a0001c0001t0006g0091others(5): Show | 8 | 244 | 0.0328 | 2344 | c.774 others(2361): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | ||||||
SLC10A7_chr4_146248981_146526940 | 146286440 | C | CTGGAGTG others(2337): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02451.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0177a0001c0001t0006g0178a0001c0001t0006g0179others(1): Show | 4 | 244 | 0.0164 | 2344 | c.774 others(2361): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169685706 | T | TAAGTTTT others(2338): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0118 | 1 | 390 | 0.0026 | 2345 | c.68- others(2360): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2338): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 390 | 0.0026 | 2345 | c.972 others(2358): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2338): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 390 | 0.0026 | 2345 | c.972 others(2358): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2338): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0130 | 1 | 186 | 0.0054 | 2345 | c.723 others(2362): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
LEFTY2_chr1_225931603_225946220 | 225931981 | T | TTTTTTTT others(2338): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 454 | 0.0022 | 2345 | c.*54 others(2356): Show |
LEFTY2 | ENSG00000143768.13 | transcript | ENST00000366820.10 | protein_coding | 4621 | chr1 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101311711 | C | CCCCTCAC others(2338): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 336 | 0.0030 | 2345 | c.269 others(2364): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2338): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0009 | a0009c0016 | a0009c0016t0008 | a0009c0016t0008g0002 | 1 | 216 | 0.0046 | 2345 | c.801 others(2362): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2338): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0004 | a0004c0002 | a0004c0002t0001 | a0004c0002t0001g0071 | 1 | 216 | 0.0046 | 2345 | c.801 others(2362): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
TRAPPC10_chr21_44007309_44111552 | 44110318 | C | CAACATTC others(2338): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0238 | 1 | 254 | 0.0039 | 2345 | c.*67 others(2356): Show |
TRAPPC10 | ENSG00000160218.13 | transcript | ENST00000291574.9 | protein_coding | 3767 | chr21 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(2338): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 356 | 0.0028 | 2345 | c.114 others(2362): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(2339): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0255 | 1 | 337 | 0.0030 | 2346 | c.179 others(2367): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591689 | A | ATGATGGT others(2339): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0029 | 1 | 344 | 0.0029 | 2346 | c.373 others(2363): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2339): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0021 | a0021c0030 | a0021c0030t0001 | a0021c0030t0001g0033 | 1 | 104 | 0.0096 | 2346 | c.354 others(2365): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(2339): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01081.hp1 HG01891.hp1 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0011a0002c0003others(4): Show | a0001c0001t0001a0001c0011t0031a0002c0003t0034others(4): Show | a0001c0001t0001g0069a0001c0011t0031g0035a0002c0003t0034g0059others(4): Show | 7 | 125 | 0.0560 | 2346 | c.219 others(2365): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2339): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 390 | 0.0026 | 2346 | c.972 others(2359): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GPIHBP1_chr8_143208218_143222170 | 143218216 | A | ACCCACAA others(2339): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 | 1 | 106 | 0.0094 | 2346 | c.*26 others(2357): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1047 | chr8 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591689 | A | ATGATGGT others(2339): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040 | 1 | 397 | 0.0025 | 2346 | c.*51 others(2357): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4112 | chr5 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585487 | C | CCTTTCCA others(2339): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 279 | 0.0036 | 2346 | c.215 others(2363): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHRF1_chr11_571470_617222 | 585487 | C | CCTTTCCA others(2339): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 279 | 0.0036 | 2346 | c.215 others(2363): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2339): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01243.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006 | 4 | 432 | 0.0093 | 2346 | c.-20 others(2357): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2339): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006 | 1 | 432 | 0.0023 | 2346 | c.-20 others(2357): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar |