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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL5A1_chr9_134636803_134849843 | 134714467 | G | GTTGTGGA others(2290): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0142 | 1 | 272 | 0.0037 | 2297 | c.655 others(2316): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 4/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134714467 | G | GTTGTGGA others(2290): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00609.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0027others(10): Show | a0001c0001t0002g0069a0001c0001t0002g0122a0001c0001t0002g0139others(17): Show | 20 | 272 | 0.0735 | 2297 | c.655 others(2316): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 4/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2290): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 316 | 0.0032 | 2297 | c.44- others(2310): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2290): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0002 | a0002c0002t0044 | a0002c0002t0044g0308 | 1 | 322 | 0.0031 | 2297 | c.439 others(2314): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2290): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00642.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0011a0001c0001t0049others(1): Show | a0001c0001t0001g0168a0001c0001t0011g0316a0001c0001t0011g0319others(4): Show | 7 | 322 | 0.0217 | 2297 | c.439 others(2314): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2290): Show |
intron_variant | MODIFIER | HG01175.hp2 NA19240.hp2 NA20752.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0030 | a0001c0001t0001g0149a0001c0001t0011g0318a0001c0001t0011g0321others(1): Show | 4 | 322 | 0.0124 | 2297 | c.439 others(2314): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2290): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 322 | 0.0031 | 2297 | c.439 others(2314): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
HLA-F_chr6_29718434_29732296 | 29731769 | A | AAATGTAT others(2290): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 443 | 0.0023 | 2297 | c.*45 others(2308): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 4474 | chr6 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2290): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 2 | 301 | 0.0066 | 2297 | c.-11 others(2308): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2290): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 301 | 0.0033 | 2297 | c.-11 others(2308): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2290): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0005 | a0005c0019 | a0005c0019t0024 | a0005c0019t0024g0038 | 1 | 292 | 0.0034 | 2297 | c.218 others(2312): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(2290): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 282 | 0.0036 | 2297 | c.299 others(2312): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATT others(2290): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006 | 2 | 432 | 0.0046 | 2297 | c.-20 others(2308): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2290): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2297 | c.*44 others(2308): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2290): Show |
upstream_gene_variant | MODIFIER | NA19081.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0045 | a0001c0001t0001g0084a0001c0001t0045g0058 | 2 | 361 | 0.0055 | 2297 | c.-48 others(2308): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2291): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0064 | a0064c0104 | a0064c0104t0020 | a0064c0104t0020g0198 | 1 | 216 | 0.0046 | 2298 | c.801 others(2315): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50028986 | A | ACTCGTAA others(2291): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019 | 1 | 224 | 0.0045 | 2298 | c.225 others(2317): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2292): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0272 | 1 | 371 | 0.0027 | 2299 | c.*92 others(2310): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2292): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG02523.hp2 HG03491.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031a0001c0001t0003g0199a0001c0001t0003g0206others(2): Show | 5 | 371 | 0.0135 | 2299 | c.*92 others(2310): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2292): Show |
downstream_gene_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 371 | 0.0027 | 2299 | c.*92 others(2310): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2292): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(5): Show |
a0001a0002 | a0001c0004a0001c0006a0001c0022others(2): Show | a0001c0004t0013a0001c0006t0009a0001c0022t0007others(3): Show | a0001c0004t0013g0230a0001c0006t0009g0243a0001c0022t0007g0020others(5): Show | 8 | 322 | 0.0248 | 2299 | c.439 others(2316): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2292): Show |
intron_variant | MODIFIER | HG03540.hp1 NA18522.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0004t0013 | a0001c0001t0005g0231a0001c0004t0013g0232 | 2 | 322 | 0.0062 | 2299 | c.439 others(2316): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2292): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0307a0001c0001t0020g0309 | 2 | 322 | 0.0062 | 2299 | c.439 others(2316): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2292): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0019 | a0001c0019t0020 | a0001c0019t0020g0310 | 1 | 322 | 0.0031 | 2299 | c.439 others(2316): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2292): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG02523.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0014 | 3 | 361 | 0.0083 | 2299 | c.-48 others(2310): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67079173 | T | TGTGTGTG others(2292): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0306 | 1 | 364 | 0.0028 | 2299 | c.127 others(2318): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
VPS13D_chr1_12225030_12517047 | 12415597 | T | TGAACTTG others(2292): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0048 | 1 | 154 | 0.0065 | 2299 | c.121 others(2318): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 64/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP72_chr5_607340_658553 | 650720 | G | GACTGTGA others(2293): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 91 | 0.0110 | 2300 | c.177 others(2319): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2293): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 HG01243.hp2 HG01257.hp2 others(7): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(3): Show | a0001c0001t0001g0002a0001c0001t0003g0045a0001c0001t0003g0100others(7): Show | 10 | 371 | 0.0270 | 2300 | c.*92 others(2311): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2293): Show |
downstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0335 | 1 | 371 | 0.0027 | 2300 | c.*92 others(2311): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2293): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0111 | 1 | 371 | 0.0027 | 2300 | c.*92 others(2311): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2293): Show |
downstream_gene_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0103 | a0001c0001t0103g0338 | 1 | 371 | 0.0027 | 2300 | c.*92 others(2311): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3315984 | G | GCCCCTAC others(2293): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 250 | 0.0040 | 2300 | c.259 others(2319): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2293): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0193 | 1 | 322 | 0.0031 | 2300 | c.439 others(2317): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2293): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03098.hp1 HG03225.hp1 |
a0001a0002a0005 | a0001c0004a0002c0021a0005c0012 | a0001c0004t0009a0002c0021t0010a0005c0012t0010 | a0001c0004t0009g0228a0002c0021t0010g0225a0005c0012t0010g0198 | 3 | 322 | 0.0093 | 2300 | c.439 others(2317): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2293): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02896.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0010 | a0001c0001t0005g0192a0002c0002t0010g0191 | 2 | 322 | 0.0062 | 2300 | c.439 others(2317): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2293): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0014 | a0014c0017 | a0014c0017t0002 | a0014c0017t0002g0188 | 1 | 216 | 0.0046 | 2300 | c.801 others(2317): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2293): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0020 | 1 | 276 | 0.0036 | 2300 | c.58- others(2317): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SAR1B_chr5_134596149_134637828 | 134619330 | C | CAAAAAAA others(2293): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0123 | 1 | 322 | 0.0031 | 2300 | c.178 others(2317): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 3/6 | chr5 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2293): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 HG01175.hp2 HG01243.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0015others(7): Show | 15 | 361 | 0.0416 | 2300 | c.-48 others(2311): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2293): Show |
upstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 361 | 0.0028 | 2300 | c.-48 others(2311): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2293): Show |
upstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 361 | 0.0028 | 2300 | c.-48 others(2311): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2293): Show |
upstream_gene_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 361 | 0.0028 | 2300 | c.-48 others(2311): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311140 | C | CAGTATGC others(2293): Show |
intron_variant | MODIFIER | HG01106.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0294a0001c0001t0003g0296 | 2 | 344 | 0.0058 | 2300 | c.327 others(2317): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311140 | C | CAGTATGC others(2293): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0280 | 1 | 344 | 0.0029 | 2300 | c.327 others(2317): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12415597 | T | TGAACTTG others(2293): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0049 | 1 | 154 | 0.0065 | 2300 | c.121 others(2319): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 64/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
VPS13D_chr1_12225030_12517047 | 12415597 | T | TGAACTTG others(2293): Show |
intron_variant | MODIFIER | NA18951.hp1 NA18971.hp2 NA18977.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0021a0001c0003t0024 | a0001c0003t0004g0050a0001c0003t0004g0051a0001c0003t0004g0052others(3): Show | 6 | 154 | 0.0390 | 2300 | c.121 others(2319): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 64/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
VPS13D_chr1_12225030_12517047 | 12415597 | T | TGAACTTG others(2293): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0053 | 1 | 154 | 0.0065 | 2300 | c.121 others(2319): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 64/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ADAM22_chr7_87929251_88207889 | 88046907 | T | TTACTCTT others(2294): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0011 | 1 | 230 | 0.0044 | 2301 | c.324 others(2320): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(2294): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 268 | 0.0037 | 2301 | c.137 others(2318): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |