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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(1912): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG01243.hp1 HG02055.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0051a0001c0001t0052others(1): Show | a0001c0001t0015g0017 a0001c0001t0015g0134 a0001c0001t0015g0135 others(4): Show |
7 | 15 | 0.4667 | 1919 | c.*39 others(1930): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(1912): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0005 | 1 | 9 | 0.1111 | 1919 | c.*39 others(1930): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(1912): Show |
downstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0178 | 1 | 9 | 0.1111 | 1919 | c.*39 others(1930): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAC others(1912): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 82 | 0.0122 | 1919 | c.147 others(1936): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1912): Show |
upstream_gene_variant | MODIFIER | HG02523.hp2 NA18950.hp2 NA19063.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 4 | 11 | 0.3636 | 1919 | c.-20 others(1930): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
SPAG17_chr1_117948590_118190228 | 118043133 | T | TTAAAAGC others(1912): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0110 | 1 | 264 | 0.0038 | 1919 | c.281 others(1938): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 20/48 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1913): Show |
intron_variant | MODIFIER | HG00423.hp2 NA18747.hp1 NA18953.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0273 a0001c0001t0002g0003 a0001c0001t0002g0098 others(6): Show |
10 | 98 | 0.1020 | 1920 | c.128 others(1935): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(1913): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0013 | 1 | 176 | 0.0057 | 1920 | c.373 others(1937): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(1913): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0061 | 1 | 2 | 0.5000 | 1920 | c.126 others(1937): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586397 | T | TAGGCGGA others(1913): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0295 | 1 | 300 | 0.0033 | 1920 | c.157 others(1937): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
GALM_chr2_38661114_38739765 | 38711815 | T | TCATACCA others(1913): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0206 | 1 | 77 | 0.0130 | 1920 | c.635 others(1939): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(1913): Show |
downstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 209 | 0.0048 | 1920 | c.*50 others(1931): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | |||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(1913): Show |
downstream_gene_variant | MODIFIER | NA19002.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 2 | 210 | 0.0095 | 1920 | c.*50 others(1931): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399439 | C | CCACCGCC others(1913): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 297 | 0.0034 | 1920 | c.-25 others(1937): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(1913): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 13 | 0.0769 | 1920 | c.978 others(1937): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997496 | A | ATCTGCAG others(1913): Show |
upstream_gene_variant | MODIFIER | NA19004.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0345 | 1 | 162 | 0.0062 | 1920 | c.-19 others(1931): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 174 | chr6 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195784498 | A | ACTGAGGA others(1913): Show |
conservative_inframe_insertion | MODERATE | HG03041.hp2 NA19043.hp1 |
a0021 | a0021c0024 | a0021c0024t0004 | a0021c0024t0004g0232 a0021c0024t0004g0233 |
2 | 124 | 0.0161 | 1920 | c.708 others(1929): Show |
p.Ser others(1935): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7193/16756 | 7081/16239 | 2361/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195784834 | G | GCTGAGGA others(1913): Show |
conservative_inframe_insertion | MODERATE | HG03688.hp1 | a0095 | a0095c0151 | a0095c0151t0011 | a0095c0151t0011g0205 | 1 | 240 | 0.0042 | 1920 | c.674 others(1929): Show |
p.Ser others(1935): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 6857/16756 | 6745/16239 | 2249/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(1913): Show |
conservative_inframe_insertion | MODERATE | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 118 | 0.0085 | 1920 | c.390 others(1929): Show |
p.Thr others(1935): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | |||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(1913): Show |
downstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0005 | 1 | 9 | 0.1111 | 1920 | c.*39 others(1931): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
PLPP2_chr19_276043_296403 | 282449 | C | CGCTCCCC others(1913): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 277 | 0.0036 | 1920 | c.541 others(1935): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50397547 | A | AGGGGGGC others(1913): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0022 | 1 | 181 | 0.0055 | 1920 | c.227 others(1937): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397973 | A | AGGGGGGC others(1913): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0006 | a0006c0011 | a0006c0011t0008 | a0006c0011t0008g0310 | 1 | 257 | 0.0039 | 1920 | c.227 others(1937): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130646433 | A | ACCTCCCT others(1913): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0075 | 1 | 136 | 0.0074 | 1920 | c.-35 others(1941): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
GLIS2_chr16_4311067_4344595 | 4344388 | G | GTGAGAGG others(1914): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 HG02886.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0005a0001c0002t0023 | a0001c0002t0004g0066 a0001c0002t0004g0177 a0001c0002t0005g0044 others(3): Show |
6 | 374 | 0.0160 | 1921 | c.*68 others(1932): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4794 | chr16 | TogoVar | |||||||
GLIS2_chr16_4311067_4344595 | 4344388 | G | GTGAGAGG others(1914): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG03098.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0005 | a0001c0002t0004g0069 a0001c0002t0005g0272 |
2 | 370 | 0.0054 | 1921 | c.*68 others(1932): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4794 | chr16 | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143218345 | C | CAACACCA others(1914): Show |
downstream_gene_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0004 | 1 | 12 | 0.0833 | 1921 | c.*28 others(1932): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1176 | chr8 | TogoVar | |||||||
MAPK3_chr16_30109105_30128220 | 30124000 | A | AGACCAGC others(1914): Show |
upstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 10 | 0.1000 | 1921 | c.-79 others(1930): Show |
MAPK3 | ENSG00000102882.12 | transcript | ENST00000263025.9 | protein_coding | 781 | chr16 | TogoVar | |||||||
MAPK3_chr16_30109105_30128220 | 30124000 | A | AGACCAGC others(1914): Show |
upstream_gene_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 10 | 0.1000 | 1921 | c.-79 others(1930): Show |
MAPK3 | ENSG00000102882.12 | transcript | ENST00000263025.9 | protein_coding | 781 | chr16 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1914): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0003 | a0003c0082 | a0003c0082t0001 | a0003c0082t0001g0091 | 1 | 12 | 0.0833 | 1921 | c.228 others(1938): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1914): Show |
intron_variant | MODIFIER | NA18973.hp2 NA19000.hp2 NA19009.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0064 a0002c0002t0001g0094 a0002c0002t0001g0170 |
3 | 14 | 0.2143 | 1921 | c.228 others(1938): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79532251 | C | CTGCAGCC others(1914): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0034 | a0001c0034t0011 | a0001c0034t0011g0129 | 1 | 279 | 0.0036 | 1921 | c.*46 others(1932): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2929 | chr18 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344388 | G | GTGAGAGG others(1914): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 2 | 350 | 0.0057 | 1921 | c.4-1 others(1934): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1914): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 HG03453.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0013a0002c0002t0025 | a0001c0001t0013g0043 a0002c0002t0025g0005 |
2 | 211 | 0.0095 | 1921 | c.*22 others(1932): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1914): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0042 | 1 | 210 | 0.0048 | 1921 | c.*22 others(1932): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(1915): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 HG02735.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 a0001c0001t0002g0022 a0001c0001t0002g0111 |
7 | 10 | 0.7000 | 1922 | c.972 others(1935): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LKAAEAR1_chr20_64078376_64089398 | 64088734 | G | GGAGGCCA others(1915): Show |
upstream_gene_variant | MODIFIER | HG02071.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 1 | 8 | 0.1250 | 1922 | c.-45 others(1933): Show |
LKAAEAR1 | ENSG00000171695.11 | transcript | ENST00000302096.5 | protein_coding | 4337 | chr20 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1915): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0089 | a0089c0082 | a0089c0082t0001 | a0089c0082t0001g0185 | 1 | 32 | 0.0313 | 1922 | c.218 others(1937): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731952 | T | TGGGGAGG others(1915): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0009 | a0009c0139 | a0009c0139t0001 | a0009c0139t0001g0212 | 1 | 267 | 0.0037 | 1922 | c.299 others(1937): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1915): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0002 | 1 | 210 | 0.0048 | 1922 | c.*22 others(1933): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114099725 | C | CCCCCCCA others(1915): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 63 | 0.0159 | 1922 | c.56- others(1939): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168562338 | G | GCATTCTT others(1915): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0040 a0001c0002t0002g0041 |
2 | 178 | 0.0112 | 1922 | c.637 others(1941): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35714092 | A | ATATAGTA others(1915): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0020 | a0020c0053 | a0020c0053t0001 | a0020c0053t0001g0132 | 1 | 32 | 0.0313 | 1922 | c.291 others(1941): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 20/36 | chr5 | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 420937 | A | ATACACAC others(1916): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 202 | 0.0050 | 1923 | c.413 others(1940): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | chr12 | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 422064 | C | CCTCCATG others(1916): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0019 | 1 | 347 | 0.0029 | 1923 | c.413 others(1940): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(1916): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0057 | a0002c0057t0001 | a0002c0057t0001g0033 | 1 | 2 | 0.5000 | 1923 | c.126 others(1940): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400011 | C | CATCACCA others(1916): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0114 | 1 | 247 | 0.0040 | 1923 | c.323 others(1940): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377913 | C | CATGGAGG others(1916): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 190 | 0.0053 | 1923 | c.215 others(1940): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | chr7 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399335 | C | CACCACCA others(1916): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0024 | 1 | 291 | 0.0034 | 1923 | c.-25 others(1940): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1916): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0002 a0001c0001t0014g0002 |
2 | 211 | 0.0095 | 1923 | c.*22 others(1934): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar |