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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLGAP2_chr8_732628_1713476 | 977716 | A | ATGTGGGG others(205): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0008 | 1 | 40 | 0.0250 | 212 | c.73+ others(229): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 977853 | G | GGCTGGGT others(205): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0007 | 1 | 40 | 0.0250 | 212 | c.73+ others(229): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1384950 | G | GCACAGTT others(205): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0014 | a0001c0014t0004 | a0001c0014t0004g0036 | 1 | 40 | 0.0250 | 212 | c.107 others(233): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1384950 | G | GCACAGTT others(205): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0003 | a0003c0007 | a0003c0007t0007 | a0003c0007t0007g0038 | 1 | 40 | 0.0250 | 212 | c.107 others(233): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33010108 | A | ATGTGTAT others(205): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 126 | 0.0079 | 212 | c.93+ others(229): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89619226 | T | TCCCCTCC others(205): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 250 | 0.0040 | 212 | c.-10 others(231): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49440638 | T | TTATATAT others(205): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0093 | 1 | 290 | 0.0035 | 212 | c.-53 others(231): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49440994 | A | ATTTATAT others(205): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0137 | 1 | 290 | 0.0035 | 212 | c.-53 others(231): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21180050 | A | ATATTACA others(205): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095 | 1 | 312 | 0.0032 | 212 | c.-37 others(223): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3154 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21180050 | A | ATATTACA others(205): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01109.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0002t0012others(2): Show | a0001c0001t0001g0114 a0001c0002t0001g0094 a0001c0002t0001g0096 others(16): Show |
19 | 312 | 0.0609 | 212 | c.-37 others(223): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3154 | chr1 | TogoVar | |||||||
ELF2_chr4_139052265_139182218 | 139135152 | C | CTGATTAC others(205): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0030 | 1 | 342 | 0.0029 | 212 | c.72+ others(227): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084076 | C | CTATATAT others(205): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0153 | 1 | 338 | 0.0030 | 212 | c.221 others(231): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1122523 | A | ATCTCTAT others(205): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0120 | a0001c0001t0120g0024 | 1 | 162 | 0.0062 | 212 | c.156 others(231): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355462 | A | AAAGGAGG others(205): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0019 | a0019c0015 | a0019c0015t0001 | a0019c0015t0001g0019 | 1 | 82 | 0.0122 | 212 | c.758 others(227): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
FAM53A_chr4_1634887_1689313 | 1671447 | C | CCACAGCC others(205): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00642.hp1 others(26): Show |
a0001a0008 | a0001c0002a0001c0021a0008c0022 | a0001c0002t0004a0001c0002t0015a0001c0002t0017others(3): Show | a0001c0002t0004g0140 a0001c0002t0004g0144 a0001c0002t0004g0158 others(26): Show |
29 | 350 | 0.0829 | 212 | c.-16 others(231): Show |
FAM53A | ENSG00000174137.14 | transcript | ENST00000308132.11 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
FAM53A_chr4_1634887_1689313 | 1671447 | C | CCACAGCC others(205): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00738.hp1 others(20): Show |
a0001a0007a0010 | a0001c0002a0007c0008a0010c0020 | a0001c0002t0003a0001c0002t0032a0001c0002t0041others(3): Show | a0001c0002t0003g0153 a0001c0002t0003g0160 a0001c0002t0003g0161 others(20): Show |
23 | 350 | 0.0657 | 212 | c.-16 others(231): Show |
FAM53A | ENSG00000174137.14 | transcript | ENST00000308132.11 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
FAM53A_chr4_1634887_1689313 | 1671447 | C | CCACAGCC others(205): Show |
intron_variant | MODIFIER | HG00099.hp2 NA20752.hp2 |
a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0003 | 2 | 350 | 0.0057 | 212 | c.-16 others(231): Show |
FAM53A | ENSG00000174137.14 | transcript | ENST00000308132.11 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128540067 | C | CATATATC others(205): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0020 | a0020c0026 | a0020c0026t0008 | a0020c0026t0008g0020 | 1 | 236 | 0.0042 | 212 | c.-24 others(223): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1823 | chr5 | TogoVar | |||||||
FBRSL1_chr12_132485151_132590188 | 132556657 | T | TCCAACCG others(205): Show |
intron_variant | MODIFIER | HG02056.hp2 HG03669.hp1 |
a0002a0020 | a0002c0003a0020c0112 | a0002c0003t0004a0020c0112t0009 | a0002c0003t0004g0021 a0020c0112t0009g0129 |
2 | 348 | 0.0058 | 212 | c.645 others(229): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FBXO11_chr2_47801920_47911498 | 47900693 | T | TGTATATA others(205): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0107 | 1 | 318 | 0.0031 | 212 | c.232 others(229): Show |
FBXO11 | ENSG00000138081.22 | transcript | ENST00000403359.8 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
FBXO34_chr14_55266421_55358611 | 55331803 | T | TATATATA others(205): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0321 | 1 | 334 | 0.0030 | 212 | c.-10 others(231): Show |
FBXO34 | ENSG00000178974.11 | transcript | ENST00000313833.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FIGN_chr2_163597611_163741008 | 163660791 | G | GTATACAC others(205): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0102 | 1 | 266 | 0.0038 | 212 | c.26- others(229): Show |
FIGN | ENSG00000182263.14 | transcript | ENST00000333129.4 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
FIRRM_chr1_169790040_169859080 | 169811811 | G | GATTATCT others(205): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02155.hp1 NA18945.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0249 others(3): Show |
6 | 420 | 0.0143 | 212 | c.702 others(229): Show |
FIRRM | ENSG00000000460.17 | transcript | ENST00000359326.9 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FLT4_chr5_180596506_180654600 | 180634974 | G | GTGGGTGG others(205): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0007 | a0002c0007t0004 | a0002c0007t0004g0296 | 1 | 388 | 0.0026 | 212 | c.59- others(227): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | |||||||
FOXQ1_chr6_1307098_1319758 | 1317072 | G | GCACCACC others(205): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 | a0011 | a0011c0036 | a0011c0036t0001 | a0011c0036t0001g0000 | 1 | 406 | 0.0025 | 212 | c.*31 others(223): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 2315 | chr6 | TogoVar | |||||||
GADL1_chr3_30721197_30899661 | 30763599 | G | GCTCAGAC others(205): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0241 | 1 | 282 | 0.0036 | 212 | c.139 others(233): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 14/14 | chr3 | TogoVar | |||||||
GAK_chr4_844277_937316 | 927418 | G | GTCCGCAC others(205): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02280.hp2 HG03471.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0002 | a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0005t0002g0257 |
3 | 390 | 0.0077 | 212 | c.145 others(229): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241805963 | T | TCTGCAGG others(205): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 314 | 0.0032 | 212 | c.*17 others(223): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1677 | chr2 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77259174 | G | GATGGTGG others(205): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 366 | 0.0027 | 212 | c.732 others(229): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GFPT2_chr5_180295698_180358336 | 180299909 | C | CTGGTGGA others(205): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02976.hp1 HG03130.hp1 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0006 | a0001c0004t0001g0185 a0001c0004t0001g0190 a0001c0004t0006g0382 |
3 | 412 | 0.0073 | 212 | c.*16 others(223): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 788 | chr5 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55033081 | T | TAGACACG others(205): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0022 | a0022c0039 | a0022c0039t0010 | a0022c0039t0010g0084 | 1 | 441 | 0.0023 | 212 | c.35- others(225): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 1/7 | chr19 | TogoVar | |||||||
GPC5_chr13_91393621_92872237 | 91571886 | C | CGTGTGTG others(205): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 42 | 0.0238 | 212 | c.326 others(233): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591689 | A | ATGATGGT others(205): Show |
downstream_gene_variant | MODIFIER | HG02015.hp1 HG02056.hp1 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0022 |
3 | 397 | 0.0076 | 212 | c.*51 others(223): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4112 | chr5 | TogoVar | |||||||
GPRIN1_chr5_176590802_176615156 | 176591787 | G | GTGGTGTT others(205): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0003 | 1 | 397 | 0.0025 | 212 | c.*50 others(223): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4014 | chr5 | TogoVar | |||||||
GRP_chr18_59215158_59235771 | 59233701 | A | ATATATAA others(205): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0094 | 1 | 408 | 0.0025 | 212 | c.*32 others(223): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 2931 | chr18 | TogoVar | |||||||
GRP_chr18_59215158_59235771 | 59233701 | A | ATATATAA others(205): Show |
downstream_gene_variant | MODIFIER | NA19086.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0007 | 1 | 408 | 0.0025 | 212 | c.*32 others(223): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 2931 | chr18 | TogoVar | |||||||
GRP_chr18_59215158_59235771 | 59233701 | A | ATATATAA others(205): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 HG03579.hp1 |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0001 | a0001c0001t0001g0169 a0006c0008t0001g0170 |
2 | 408 | 0.0049 | 212 | c.*32 others(223): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 2931 | chr18 | TogoVar | |||||||
GRP_chr18_59215158_59235771 | 59233701 | A | ATATATAA others(205): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00544.hp2 others(105): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0003t0002others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0030 others(42): Show |
108 | 408 | 0.2647 | 212 | c.*32 others(223): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 2931 | chr18 | TogoVar | |||||||
GRP_chr18_59215158_59235771 | 59233723 | T | TATAATAT others(205): Show |
downstream_gene_variant | MODIFIER | NA19082.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0007 | 1 | 408 | 0.0025 | 212 | c.*32 others(223): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 2953 | chr18 | TogoVar | |||||||
GSE1_chr16_85608322_85681200 | 85653217 | C | CTCCTCCC others(205): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0002 | a0002c0052 | a0002c0052t0003 | a0002c0052t0003g0023 | 1 | 290 | 0.0035 | 212 | c.427 others(229): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | chr16 | TogoVar | |||||||
HERC6_chr4_88373852_88448097 | 88380374 | T | TATATATA others(205): Show |
intron_variant | MODIFIER | HG03704.hp2 NA18612.hp1 NA18941.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0120 a0001c0001t0001g0133 a0002c0002t0001g0134 |
3 | 174 | 0.0172 | 212 | c.199 others(229): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HHIPL1_chr14_99640129_99685569 | 99673657 | G | GTGGTGCA others(205): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0300 | 1 | 374 | 0.0027 | 212 | c.181 others(231): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 8/8 | chr14 | TogoVar | |||||||
HMGN1_chr21_39337315_39354088 | 39337376 | A | ATATATAA others(205): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0102 | 1 | 414 | 0.0024 | 212 | c.*57 others(223): Show |
HMGN1 | ENSG00000205581.11 | transcript | ENST00000380749.10 | protein_coding | 4938 | chr21 | TogoVar | |||||||
HS3ST2_chr16_22809162_22921338 | 22819134 | T | TCCTTCCT others(205): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01993.hp1 HG03492.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0007 | a0001c0001t0001g0185 a0001c0001t0001g0319 a0001c0002t0007g0044 |
3 | 350 | 0.0086 | 212 | c.485 others(229): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HTR2C_chrX_114579086_114915061 | 114761888 | T | TGTGTATA others(205): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 176 | 0.0057 | 212 | c.349 others(231): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323277 | A | ATGTATAT others(205): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 323 | 0.0031 | 212 | c.-17 others(223): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1692 | chr21 | TogoVar | |||||||
INF2_chr14_104684618_104727535 | 104685973 | G | GGGTGGGT others(205): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0092 | 1 | 380 | 0.0026 | 212 | c.-37 others(223): Show |
INF2 | ENSG00000203485.14 | transcript | ENST00000392634.9 | protein_coding | 3644 | chr14 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132772426 | A | ACACTCAG others(205): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 204 | 0.0049 | 212 | c.978 others(229): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INS_chr11_2154779_2166209 | 2161948 | C | CACCCCTG others(205): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 376 | 0.0027 | 212 | c.-79 others(221): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 740 | chr11 | TogoVar | |||||||
IRAK2_chr3_10159919_10248745 | 10224728 | C | CCATCCAT others(205): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0095 | 1 | 292 | 0.0034 | 212 | c.121 others(231): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |