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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C12orf57_chr12_6939022_6951002 | 6949994 | C | CTGGTCTC others(2303): Show |
downstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 10 | 0.1000 | 2310 | c.*40 others(2321): Show |
C12orf57 | ENSG00000111678.11 | transcript | ENST00000229281.6 | protein_coding | 3993 | chr12 | TogoVar | |||||||
C12orf57_chr12_6939022_6951002 | 6949994 | C | CTGGTCTC others(2303): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG02165.hp2 NA18747.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
12 | 21 | 0.5714 | 2310 | c.*40 others(2321): Show |
C12orf57 | ENSG00000111678.11 | transcript | ENST00000229281.6 | protein_coding | 3993 | chr12 | TogoVar | |||||||
C12orf57_chr12_6939022_6951002 | 6949994 | C | CTGGTCTC others(2303): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02258.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0002c0002t0001g0001 |
13 | 22 | 0.5909 | 2310 | c.*40 others(2321): Show |
C12orf57 | ENSG00000111678.11 | transcript | ENST00000229281.6 | protein_coding | 3993 | chr12 | TogoVar | |||||||
C12orf57_chr12_6939022_6951002 | 6949994 | C | CTGGTCTC others(2303): Show |
downstream_gene_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 10 | 0.1000 | 2310 | c.*40 others(2321): Show |
C12orf57 | ENSG00000111678.11 | transcript | ENST00000229281.6 | protein_coding | 3993 | chr12 | TogoVar | |||||||
C12orf57_chr12_6939022_6951002 | 6949994 | C | CTGGTCTC others(2303): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 10 | 0.1000 | 2310 | c.*40 others(2321): Show |
C12orf57 | ENSG00000111678.11 | transcript | ENST00000229281.6 | protein_coding | 3993 | chr12 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648068 | G | GGACCCAG others(2303): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0076 | 1 | 189 | 0.0053 | 2310 | c.253 others(2325): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13384464 | G | GAAATGCT others(2303): Show |
intron_variant | MODIFIER | HG02280.hp2 NA19240.hp1 |
a0012 | a0012c0038a0012c0039 | a0012c0038t0032a0012c0039t0003 | a0012c0038t0032g0081 a0012c0039t0003g0080 |
2 | 193 | 0.0104 | 2310 | c.131 others(2329): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 4/17 | chr8 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29731769 | A | AAATGTAT others(2303): Show |
downstream_gene_variant | MODIFIER | NA18980.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 417 | 0.0024 | 2310 | c.*45 others(2321): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 4474 | chr6 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29120383 | A | GATGGAAA others(2303): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03041.hp2 |
a0001 | a0001c0005 | a0001c0005t0014 | a0001c0005t0014g0304 a0001c0005t0014g0306 |
2 | 179 | 0.0112 | 2310 | c.353 others(2325): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | chr22 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45924480 | T | TGAGGAGA others(2303): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 219 | 0.0046 | 2310 | c.718 others(2327): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924646 | G | GTAGAAAC others(2303): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 172 | 0.0058 | 2310 | c.718 others(2327): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924646 | G | GTAGAAAC others(2303): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 172 | 0.0058 | 2310 | c.718 others(2327): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924666 | A | ATCGGGTG others(2303): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 242 | 0.0041 | 2310 | c.718 others(2327): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2303): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0003 | a0003c0042 | a0003c0042t0011 | a0003c0042t0011g0203 | 1 | 2 | 0.5000 | 2310 | c.801 others(2327): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PTPN6_chr12_6946356_6966316 | 6949994 | C | CTGGTCTC others(2303): Show |
upstream_gene_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 8 | 0.1250 | 2310 | c.-15 others(2321): Show |
PTPN6 | ENSG00000111679.17 | transcript | ENST00000318974.14 | protein_coding | 1361 | chr12 | TogoVar | |||||||
PTPN6_chr12_6946356_6966316 | 6949994 | C | CTGGTCTC others(2303): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG02165.hp1 NA18747.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0014 |
9 | 16 | 0.5625 | 2310 | c.-15 others(2321): Show |
PTPN6 | ENSG00000111679.17 | transcript | ENST00000318974.14 | protein_coding | 1361 | chr12 | TogoVar | |||||||
PTPN6_chr12_6946356_6966316 | 6949994 | C | CTGGTCTC others(2303): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02258.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0001 | a0001c0001t0001g0004 a0001c0001t0001g0046 a0001c0001t0001g0093 others(4): Show |
11 | 18 | 0.6111 | 2310 | c.-15 others(2321): Show |
PTPN6 | ENSG00000111679.17 | transcript | ENST00000318974.14 | protein_coding | 1361 | chr12 | TogoVar | |||||||
PTPN6_chr12_6946356_6966316 | 6949994 | C | CTGGTCTC others(2303): Show |
upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 8 | 0.1250 | 2310 | c.-15 others(2321): Show |
PTPN6 | ENSG00000111679.17 | transcript | ENST00000318974.14 | protein_coding | 1361 | chr12 | TogoVar | |||||||
ZDHHC11B_chr5_705355_789729 | 721255 | T | TAAAGATT others(2303): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0051 | 1 | 229 | 0.0044 | 2310 | c.105 others(2329): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 12/13 | chr5 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2304): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 50 | 0.0200 | 2311 | c.147 others(2328): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C12orf57_chr12_6939022_6951002 | 6949994 | C | CTGGTCTC others(2304): Show |
downstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 10 | 0.1000 | 2311 | c.*40 others(2322): Show |
C12orf57 | ENSG00000111678.11 | transcript | ENST00000229281.6 | protein_coding | 3993 | chr12 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13384464 | G | GAAATGCT others(2304): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 192 | 0.0052 | 2311 | c.131 others(2330): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 4/17 | chr8 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2304): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 4 | 0.2500 | 2311 | c.972 others(2324): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LPIN1_chr2_11741632_11832409 | 11775777 | T | TTCTTTAT others(2304): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 271 | 0.0037 | 2311 | c.723 others(2326): Show |
LPIN1 | ENSG00000134324.12 | transcript | ENST00000674199.1 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2304): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0071 | a0071c0122 | a0071c0122t0001 | a0071c0122t0001g0111 | 1 | 2 | 0.5000 | 2311 | c.801 others(2328): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2304): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0003 | a0003c0043 | a0003c0043t0001 | a0003c0043t0001g0206 | 1 | 2 | 0.5000 | 2311 | c.801 others(2328): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2304): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 2 | 0.5000 | 2311 | c.801 others(2328): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PTPN6_chr12_6946356_6966316 | 6949994 | C | CTGGTCTC others(2304): Show |
upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 8 | 0.1250 | 2311 | c.-15 others(2322): Show |
PTPN6 | ENSG00000111679.17 | transcript | ENST00000318974.14 | protein_coding | 1361 | chr12 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 415395 | G | GTCTGCCT others(2305): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0007 | 1 | 233 | 0.0043 | 2312 | c.441 others(2329): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200733 | C | CAGGGTCA others(2305): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0292 | 1 | 278 | 0.0036 | 2312 | c.955 others(2329): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | chr18 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29731769 | A | AAATGTAT others(2305): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 417 | 0.0024 | 2312 | c.*45 others(2323): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 4474 | chr6 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2305): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0141 | 1 | 8 | 0.1250 | 2312 | c.723 others(2329): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LPIN1_chr2_11741632_11832409 | 11775777 | T | TTCTTTAT others(2305): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02717.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 |
3 | 273 | 0.0110 | 2312 | c.723 others(2327): Show |
LPIN1 | ENSG00000134324.12 | transcript | ENST00000674199.1 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGAG others(2305): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0028 | a0028c0056 | a0028c0056t0002 | a0028c0056t0002g0102 | 1 | 2 | 0.5000 | 2312 | c.801 others(2329): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2305): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0062 | 1 | 2 | 0.5000 | 2312 | c.801 others(2329): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2305): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0025 | a0025c0029 | a0025c0029t0001 | a0025c0029t0001g0159 | 1 | 2 | 0.5000 | 2312 | c.801 others(2329): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2305): Show |
downstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 221 | 0.0045 | 2312 | c.*44 others(2323): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
RTEL1_chr20_63653312_63701245 | 63693582 | A | ACCTCCAC others(2305): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 | 1 | 44 | 0.0227 | 2312 | c.299 others(2329): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TNFRSF6B_chr20_63691652_63703684 | 63693582 | A | ACCTCCAC others(2305): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 25 | 0.0400 | 2312 | c.-31 others(2323): Show |
TNFRSF6B | ENSG00000243509.6 | transcript | ENST00000369996.3 | protein_coding | 3069 | chr20 | TogoVar | |||||||
TRIM66_chr11_8607040_8687665 | 8653897 | C | CAAGAACA others(2305): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0011 | a0011c0012 | a0011c0012t0007 | a0011c0012t0007g0211 | 1 | 380 | 0.0026 | 2312 | c.341 others(2329): Show |
TRIM66 | ENSG00000166436.18 | transcript | ENST00000646038.2 | protein_coding | 6/24 | chr11 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51740560 | A | AATTAGGC others(2306): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0181 | 1 | 221 | 0.0045 | 2313 | c.69- others(2330): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | |||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(2306): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02622.hp1 HG02818.hp1 others(1): Show |
a0002a0012a0018 | a0002c0009a0012c0031a0012c0102others(1): Show | a0002c0009t0009a0012c0031t0004a0012c0102t0004others(1): Show | a0002c0009t0009g0185 a0012c0031t0004g0018 a0012c0102t0004g0017 others(1): Show |
4 | 45 | 0.0889 | 2313 | c.179 others(2328): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2306): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 2 | 0.5000 | 2313 | c.44- others(2326): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CTU2_chr16_88701503_88720396 | 88713164 | A | ACCCGAGA others(2306): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0011 | a0011c0018 | a0011c0018t0001 | a0011c0018t0001g0149 | 1 | 225 | 0.0044 | 2313 | c.738 others(2328): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13384464 | G | GAAATGCT others(2306): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02895.hp2 HG02922.hp1 others(2): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0001c0011others(2): Show | a0001c0001t0009a0001c0004t0003a0001c0011t0005others(2): Show | a0001c0001t0009g0009 a0001c0004t0003g0049 a0001c0011t0005g0195 others(2): Show |
5 | 196 | 0.0255 | 2313 | c.131 others(2332): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 4/17 | chr8 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29731769 | A | AAATGTAT others(2306): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 417 | 0.0024 | 2313 | c.*45 others(2324): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 4474 | chr6 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2306): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0081 | a0002c0081t0001 | a0002c0081t0001g0086 | 1 | 8 | 0.1250 | 2313 | c.723 others(2330): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LPIN1_chr2_11741632_11832409 | 11775777 | T | TTCTTTAT others(2306): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0066 | 1 | 271 | 0.0037 | 2313 | c.723 others(2328): Show |
LPIN1 | ENSG00000134324.12 | transcript | ENST00000674199.1 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952686 | T | TGGGGGGG others(2306): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0233 | 1 | 208 | 0.0048 | 2313 | c.360 others(2332): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88713164 | A | ACCCGAGA others(2306): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0025 | a0025c0037 | a0025c0037t0012 | a0025c0037t0012g0268 | 1 | 158 | 0.0063 | 2313 | c.*24 others(2324): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2173 | chr16 | TogoVar |