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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GALM_chr2_38661114_38739765 | 38711815 | T | TCATACCA others(1886): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03516.hp2 |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0211 a0003c0004t0004g0214 |
2 | 78 | 0.0256 | 1893 | c.635 others(1912): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38711815 | T | TCATACCA others(1886): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 77 | 0.0130 | 1893 | c.635 others(1912): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38711815 | T | TCATACCA others(1886): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0176 | 1 | 77 | 0.0130 | 1893 | c.635 others(1912): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38711815 | T | TCATACCA others(1886): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 77 | 0.0130 | 1893 | c.635 others(1912): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38711815 | T | TCATACCA others(1886): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0227 | 1 | 77 | 0.0130 | 1893 | c.635 others(1912): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38711815 | T | TCATACCA others(1886): Show |
intron_variant | MODIFIER | NA18953.hp2 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 a0001c0001t0001g0191 |
2 | 78 | 0.0256 | 1893 | c.635 others(1912): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38711815 | T | TCATACCA others(1886): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 77 | 0.0130 | 1893 | c.635 others(1912): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(1886): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0042 | a0042c0118 | a0042c0118t0001 | a0042c0118t0001g0070 | 1 | 31 | 0.0323 | 1893 | c.956 others(1910): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
MIER2_chr19_300573_349796 | 310052 | G | GCACACAG others(1886): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0253 | 1 | 376 | 0.0027 | 1893 | c.985 others(1910): Show |
MIER2 | ENSG00000105556.12 | transcript | ENST00000264819.7 | protein_coding | 10/13 | chr19 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1886): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03579.hp2 |
a0018a0020 | a0018c0048a0020c0045 | a0018c0048t0001a0020c0045t0001 | a0018c0048t0001g0003 a0020c0045t0001g0003 |
2 | 13 | 0.1538 | 1893 | c.228 others(1910): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178228 | C | CCCATCCA others(1886): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02895.hp2 others(3): Show |
a0008a0010a0014 | a0008c0114a0010c0022a0010c0074others(1): Show | a0008c0114t0001a0010c0022t0001a0010c0074t0001others(1): Show | a0008c0114t0001g0273 a0010c0022t0001g0014 a0010c0022t0001g0076 others(2): Show |
6 | 349 | 0.0172 | 1893 | c.228 others(1910): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178228 | C | CCCATCCA others(1886): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0010 | a0010c0097 | a0010c0097t0001 | a0010c0097t0001g0320 | 1 | 344 | 0.0029 | 1893 | c.228 others(1910): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393246 | T | TCTCTCTC others(1886): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0012 | a0001c0001t0009g0067 a0001c0001t0012g0019 a0001c0001t0012g0043 others(1): Show |
4 | 141 | 0.0284 | 1893 | c.107 others(1912): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393246 | T | TCTCTCTC others(1886): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0100 | 1 | 138 | 0.0072 | 1893 | c.107 others(1912): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393254 | T | TCTCTCTC others(1886): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0006 | 1 | 153 | 0.0065 | 1893 | c.107 others(1912): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1886): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0006 | a0006c0005 | a0006c0005t0009 | a0006c0005t0009g0077 | 1 | 126 | 0.0079 | 1893 | c.45- others(1908): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1886): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 277 | 0.0036 | 1893 | c.129 others(1910): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF404_chr19_43867365_43888964 | 43873778 | G | GGTGCAAA others(1886): Show |
stop_gained others(1): Show |
HIGH | HG02055.hp1 | a0003 | a0003c0023 | a0003c0023t0003 | a0003c0023t0003g0064 | 1 | 363 | 0.0028 | 1893 | c.435 others(1900): Show |
p.His others(1906): Show |
ZNF404 | ENSG00000176222.10 | transcript | ENST00000587539.2 | protein_coding | 3/3 | 435/1849 | 435/1659 | 145/552 | chr19 | TogoVar | |||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1887): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0040 | 1 | 89 | 0.0112 | 1894 | c.128 others(1909): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1887): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02258.hp2 NA18948.hp2 others(10): Show |
a0001a0002a0015 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0299 a0001c0001t0001g0360 a0001c0003t0001g0045 others(10): Show |
13 | 101 | 0.1287 | 1894 | c.128 others(1909): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1887): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03139.hp1 HG03209.hp1 others(1): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001 | a0001c0003t0001g0041 a0001c0003t0001g0046 a0001c0003t0001g0047 others(1): Show |
4 | 92 | 0.0435 | 1894 | c.128 others(1909): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1887): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0053 | 1 | 89 | 0.0112 | 1894 | c.128 others(1909): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1887): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18946.hp1 NA18946.hp2 others(3): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0001a0002c0002t0001 | a0001c0004t0001g0086 a0001c0004t0001g0194 a0001c0004t0001g0377 others(3): Show |
6 | 94 | 0.0638 | 1894 | c.128 others(1909): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1887): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0005 | a0005c0008 | a0005c0008t0004 | a0005c0008t0004g0033 | 1 | 89 | 0.0112 | 1894 | c.128 others(1909): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
DAAM2_chr6_39787376_39909869 | 39845369 | A | AACCCCAT others(1887): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0009 | a0001c0009t0009 | a0001c0009t0009g0163 | 1 | 73 | 0.0137 | 1894 | c.-56 others(1913): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DAAM2_chr6_39787376_39909869 | 39845369 | A | AACCCCAT others(1887): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0246 | 1 | 73 | 0.0137 | 1894 | c.-56 others(1913): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DAAM2_chr6_39787376_39909869 | 39845369 | A | AACCCCAT others(1887): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG03579.hp2 |
a0001a0008 | a0001c0002a0001c0003a0008c0038 | a0001c0002t0002a0001c0003t0003a0008c0038t0009 | a0001c0002t0002g0039 a0001c0003t0003g0117 a0008c0038t0009g0042 |
3 | 75 | 0.0400 | 1894 | c.-56 others(1913): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DAAM2_chr6_39787376_39909869 | 39845369 | A | AACCCCAT others(1887): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0033 | a0001c0033t0001 | a0001c0033t0001g0045 | 1 | 73 | 0.0137 | 1894 | c.-56 others(1913): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1887): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0197 | 1 | 32 | 0.0313 | 1894 | c.218 others(1909): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195760489 | G | GTGGAGGG others(1887): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0082 | a0082c0112 | a0082c0112t0001 | a0082c0112t0001g0019 | 1 | 243 | 0.0041 | 1894 | c.148 others(1913): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 16/24 | chr3 | TogoVar | |||||||
NFIA_chr1_61077561_61467788 | 61393237 | C | CCCTCTCT others(1887): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0071 | 1 | 151 | 0.0066 | 1894 | c.107 others(1913): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393244 | C | CCTCTCTC others(1887): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0002 | a0001c0002t0051 | a0001c0002t0051g0083 | 1 | 48 | 0.0208 | 1894 | c.107 others(1913): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393246 | T | TCTCTCTC others(1887): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0027 | 1 | 138 | 0.0072 | 1894 | c.107 others(1913): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393250 | T | TCTCTCTC others(1887): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0111 | 1 | 142 | 0.0070 | 1894 | c.107 others(1913): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1887): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 8 | 0.1250 | 1894 | c.-20 others(1905): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1887): Show |
upstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 8 | 0.1250 | 1894 | c.-20 others(1905): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1887): Show |
upstream_gene_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 1894 | c.-20 others(1905): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1887): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG02486.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0017 | 2 | 9 | 0.2222 | 1894 | c.-20 others(1905): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1887): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0304 | 1 | 126 | 0.0079 | 1894 | c.45- others(1909): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249340 | G | GAGGATGA others(1887): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0064 | 1 | 95 | 0.0105 | 1894 | c.206 others(1913): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
ZNF404_chr19_43867365_43888964 | 43873778 | G | GGTGCAAA others(1887): Show |
frameshift_variant others(1): Show |
HIGH | HG02145.hp1 | a0003 | a0003c0021 | a0003c0021t0003 | a0003c0021t0003g0067 | 1 | 363 | 0.0028 | 1894 | c.435 others(1901): Show |
p.Leu others(5): Show |
ZNF404 | ENSG00000176222.10 | transcript | ENST00000587539.2 | protein_coding | 3/3 | 435/1849 | 435/1659 | 145/552 | chr19 | TogoVar | |||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1888): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0007 | a0007c0013 | a0007c0013t0001 | a0007c0013t0001g0372 | 1 | 89 | 0.0112 | 1895 | c.128 others(1910): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1888): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02886.hp2 |
a0003 | a0003c0006 | a0003c0006t0004a0003c0006t0012 | a0003c0006t0004g0342 a0003c0006t0012g0340 |
2 | 90 | 0.0222 | 1895 | c.128 others(1910): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1888): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0039 | 1 | 89 | 0.0112 | 1895 | c.128 others(1910): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1888): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0004 | a0004c0007 | a0004c0007t0005 | a0004c0007t0005g0019 | 1 | 89 | 0.0112 | 1895 | c.128 others(1910): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1888): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 47 | 0.0213 | 1895 | c.338 others(1914): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1888): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0024 | a0001c0024t0026 | a0001c0024t0026g0148 | 1 | 192 | 0.0052 | 1895 | c.292 others(1914): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MIER2_chr19_300573_349796 | 310052 | G | GCACACAG others(1888): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0021 | a0001c0021t0014 | a0001c0021t0014g0108 | 1 | 376 | 0.0027 | 1895 | c.985 others(1912): Show |
MIER2 | ENSG00000105556.12 | transcript | ENST00000264819.7 | protein_coding | 10/13 | chr19 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50397738 | A | AGTGTGAC others(1888): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0014 | a0014c0032 | a0014c0032t0003 | a0014c0032t0003g0283 | 1 | 210 | 0.0048 | 1895 | c.227 others(1912): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1888): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 8 | 0.1250 | 1895 | c.-20 others(1906): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar |