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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCDC6_chr10_59783747_59911556 | 59882003 | T | TGGGGGGA others(2299): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 211 | 0.0047 | 2306 | c.303 others(2325): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2299): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0005 | a0005c0053 | a0005c0053t0001 | a0005c0053t0001g0089 | 1 | 13 | 0.0769 | 2306 | c.354 others(2325): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2299): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0027 | a0027c0057 | a0027c0057t0004 | a0027c0057t0004g0096 | 1 | 13 | 0.0769 | 2306 | c.354 others(2325): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2299): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 13 | 0.0769 | 2306 | c.354 others(2325): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2299): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0045 | a0045c0037 | a0045c0037t0008 | a0045c0037t0008g0026 | 1 | 13 | 0.0769 | 2306 | c.354 others(2325): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2299): Show |
downstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 88 | 0.0114 | 2306 | c.*92 others(2317): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2299): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 88 | 0.0114 | 2306 | c.*92 others(2317): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2299): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0152 | 1 | 88 | 0.0114 | 2306 | c.*92 others(2317): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2299): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0118 | 1 | 88 | 0.0114 | 2306 | c.*92 others(2317): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2299): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0105 | 1 | 88 | 0.0114 | 2306 | c.*92 others(2317): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251277 | C | CCACACCC others(2299): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 68 | 0.0147 | 2306 | c.207 others(2325): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13384464 | G | GAAATGCT others(2299): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0007 | 1 | 192 | 0.0052 | 2306 | c.131 others(2325): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 4/17 | chr8 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2299): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0207 | 1 | 249 | 0.0040 | 2306 | c.228 others(2323): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2299): Show |
upstream_gene_variant | MODIFIER | NA19012.hp2 | a0003 | a0003c0001 | a0003c0001t0002 | a0003c0001t0002g0298 | 1 | 318 | 0.0031 | 2306 | c.-50 others(2317): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29731769 | A | AAATGTAT others(2299): Show |
downstream_gene_variant | MODIFIER | HG02155.hp2 HG02735.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 2 | 418 | 0.0048 | 2306 | c.*45 others(2317): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 4474 | chr6 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46076598 | T | TAAACCAA others(2299): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0003 | a0003c0004 | a0003c0004t0025 | a0003c0004t0025g0321 | 1 | 299 | 0.0033 | 2306 | c.153 others(2325): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 4/14 | chr17 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29120084 | T | TGGAGGAG others(2299): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0178 | 1 | 106 | 0.0094 | 2306 | c.353 others(2323): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MFAP5_chr12_8640943_8667826 | 8663973 | T | TTTTTTTT others(2299): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 370 | 0.0027 | 2306 | c.-13 others(2317): Show |
MFAP5 | ENSG00000197614.11 | transcript | ENST00000359478.7 | protein_coding | 1148 | chr12 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2299): Show |
frameshift_variant others(1): Show |
HIGH | NA18955.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0116 | 1 | 129 | 0.0078 | 2306 | c.381 others(2315): Show |
p.Val others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | |||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(2299): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 82 | 0.0122 | 2306 | c.147 others(2323): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2299): Show |
downstream_gene_variant | MODIFIER | NA18982.hp1 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 222 | 0.0090 | 2306 | c.*44 others(2317): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2299): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 89 | 0.0112 | 2306 | c.-48 others(2317): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | |||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2299): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 89 | 0.0112 | 2306 | c.-48 others(2317): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311861 | C | CGCTCACC others(2299): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 291 | 0.0034 | 2306 | c.327 others(2323): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
C12orf57_chr12_6939022_6951002 | 6949994 | C | CTGGTCTC others(2300): Show |
downstream_gene_variant | MODIFIER | NA19011.hp1 NA19074.hp1 NA19076.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 |
4 | 13 | 0.3077 | 2307 | c.*40 others(2318): Show |
C12orf57 | ENSG00000111678.11 | transcript | ENST00000229281.6 | protein_coding | 3993 | chr12 | TogoVar | |||||||
C12orf57_chr12_6939022_6951002 | 6949994 | C | CTGGTCTC others(2300): Show |
downstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 10 | 0.1000 | 2307 | c.*40 others(2318): Show |
C12orf57 | ENSG00000111678.11 | transcript | ENST00000229281.6 | protein_coding | 3993 | chr12 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(2300): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0086 | a0001c0086t0001 | a0001c0086t0001g0021 | 1 | 194 | 0.0052 | 2307 | c.300 others(2324): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13384464 | G | GAAATGCT others(2300): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01167.hp1 others(1): Show |
a0001a0002a0014 | a0001c0001a0002c0020a0014c0036 | a0001c0001t0001a0002c0020t0002a0014c0036t0001 | a0001c0001t0001g0083 a0001c0001t0001g0101 a0002c0020t0002g0046 others(1): Show |
4 | 195 | 0.0205 | 2307 | c.131 others(2326): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 4/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13384464 | G | GAAATGCT others(2300): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0208 | 1 | 192 | 0.0052 | 2307 | c.131 others(2326): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 4/17 | chr8 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 400506 | T | TCACCACC others(2300): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0061 | a0061c0123 | a0061c0123t0001 | a0061c0123t0001g0240 | 1 | 181 | 0.0055 | 2307 | c.323 others(2326): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HLA-F_chr6_29718434_29732296 | 29731769 | A | AAATGTAT others(2300): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 417 | 0.0024 | 2307 | c.*45 others(2318): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 4474 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29731769 | A | AAATGTAT others(2300): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00741.hp1 HG02027.hp2 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 a0002c0002t0001g0036 |
13 | 429 | 0.0303 | 2307 | c.*45 others(2318): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 4474 | chr6 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2300): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0009 | a0001c0009t0015 | a0001c0009t0015g0147 | 1 | 2 | 0.5000 | 2307 | c.801 others(2324): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TTTATACA others(2300): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0014 | 1 | 8 | 0.1250 | 2307 | c.-20 others(2318): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PTPN6_chr12_6946356_6966316 | 6949994 | C | CTGGTCTC others(2300): Show |
upstream_gene_variant | MODIFIER | NA19011.hp2 NA19074.hp1 NA19076.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0012 | 4 | 11 | 0.3636 | 2307 | c.-15 others(2318): Show |
PTPN6 | ENSG00000111679.17 | transcript | ENST00000318974.14 | protein_coding | 1361 | chr12 | TogoVar | |||||||
PTPN6_chr12_6946356_6966316 | 6949994 | C | CTGGTCTC others(2300): Show |
upstream_gene_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 2307 | c.-15 others(2318): Show |
PTPN6 | ENSG00000111679.17 | transcript | ENST00000318974.14 | protein_coding | 1361 | chr12 | TogoVar | |||||||
PTPN6_chr12_6946356_6966316 | 6949994 | C | CTGGTCTC others(2300): Show |
upstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 8 | 0.1250 | 2307 | c.-15 others(2318): Show |
PTPN6 | ENSG00000111679.17 | transcript | ENST00000318974.14 | protein_coding | 1361 | chr12 | TogoVar | |||||||
RAPGEF1_chr9_131571775_131745076 | 131571834 | T | TAAAATCT others(2300): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 366 | 0.0027 | 2307 | c.*76 others(2318): Show |
RAPGEF1 | ENSG00000107263.19 | transcript | ENST00000683357.1 | protein_coding | 4940 | chr9 | TogoVar | |||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2300): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 89 | 0.0112 | 2307 | c.-48 others(2318): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | |||||||
UCK2_chr1_165822614_165916618 | 165892146 | T | TCTGAAAC others(2300): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 201 | 0.0050 | 2307 | c.356 others(2322): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2301): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 50 | 0.0200 | 2308 | c.147 others(2325): 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(2301): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006 a0001c0001t0002g0009 |
7 | 16 | 0.4375 | 2308 | c.*40 others(2319): Show |
C12orf57 | ENSG00000111678.11 | transcript | ENST00000229281.6 | protein_coding | 3993 | chr12 | TogoVar | |||||||
C12orf57_chr12_6939022_6951002 | 6949994 | C | CTGGTCTC others(2301): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG01975.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
3 | 12 | 0.2500 | 2308 | c.*40 others(2319): Show |
C12orf57 | ENSG00000111678.11 | transcript | ENST00000229281.6 | protein_coding | 3993 | chr12 | TogoVar | |||||||
C12orf57_chr12_6939022_6951002 | 6949994 | C | CTGGTCTC others(2301): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG01943.hp2 HG02897.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 |
8 | 17 | 0.4706 | 2308 | c.*40 others(2319): Show |
C12orf57 | ENSG00000111678.11 | transcript | ENST00000229281.6 | protein_coding | 3993 | chr12 | TogoVar | |||||||
C12orf57_chr12_6939022_6951002 | 6949994 | C | CTGGTCTC others(2301): Show |
downstream_gene_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 10 | 0.1000 | 2308 | c.*40 others(2319): Show |
C12orf57 | ENSG00000111678.11 | transcript | ENST00000229281.6 | protein_coding | 3993 | chr12 | TogoVar | |||||||
C12orf57_chr12_6939022_6951002 | 6949994 | C | CTGGTCTC others(2301): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 10 | 0.1000 | 2308 | c.*40 others(2319): Show |
C12orf57 | ENSG00000111678.11 | transcript | ENST00000229281.6 | protein_coding | 3993 | chr12 | TogoVar | |||||||
C12orf57_chr12_6939022_6951002 | 6949994 | C | CTGGTCTC others(2301): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG02015.hp2 HG02027.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 |
13 | 22 | 0.5909 | 2308 | c.*40 others(2319): Show |
C12orf57 | ENSG00000111678.11 | transcript | ENST00000229281.6 | protein_coding | 3993 | chr12 | TogoVar | |||||||
C12orf57_chr12_6939022_6951002 | 6949994 | C | CTGGTCTC others(2301): Show |
downstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 10 | 0.1000 | 2308 | c.*40 others(2319): Show |
C12orf57 | ENSG00000111678.11 | transcript | ENST00000229281.6 | protein_coding | 3993 | chr12 | TogoVar | |||||||
C12orf57_chr12_6939022_6951002 | 6949994 | C | CTGGTCTC others(2301): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 10 | 0.1000 | 2308 | c.*40 others(2319): Show |
C12orf57 | ENSG00000111678.11 | transcript | ENST00000229281.6 | protein_coding | 3993 | chr12 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469984 | A | AGGGGAGG others(2301): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0004 | a0004c0013 | a0004c0013t0001 | a0004c0013t0001g0023 | 1 | 99 | 0.0101 | 2308 | c.354 others(2327): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar |