| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CTNNBL1_chr20_37689030_37877118 | 37712937 | T | TAAAAAAT others(341): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 266 | 0.0038 | 348 | c.30+ others(365): Show |
CTNNBL1 | ENSG00000132792.21 | transcript | ENST00000361383.11 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CTNNBL1_chr20_37689030_37877118 | 37856593 | A | ACACAAGT others(341): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 266 | 0.0038 | 348 | c.139 others(367): Show |
CTNNBL1 | ENSG00000132792.21 | transcript | ENST00000361383.11 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CTTNBP2_chr7_117705651_117878441 | 117740266 | T | TAAGTTTT others(341): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 164 | 0.0061 | 348 | c.353 others(367): Show |
CTTNBP2 | ENSG00000077063.11 | transcript | ENST00000160373.8 | protein_coding | 14/22 | chr7 | TogoVar | ||||||
| CUL4A_chr13_113204613_113272108 | 113232250 | G | GTCACCAC others(341): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0370 | 1 | 396 | 0.0025 | 348 | c.513 others(363): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | ||||||
| CXorf51A_chrX_146809106_146819744 | 146812263 | A | ATATGTGT others(341): Show |
downstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 264 | 0.0038 | 348 | c.*19 others(359): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1842 | chrX | TogoVar | ||||||
| CXorf51A_chrX_146809106_146819744 | 146812296 | T | TGTACATA others(341): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00597.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0012 | 37 | 264 | 0.1402 | 348 | c.*19 others(359): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1809 | chrX | TogoVar | ||||||
| CXorf51A_chrX_146809106_146819744 | 146812300 | C | CATATATA others(341): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG01884.hp2 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002 | 6 | 264 | 0.0227 | 348 | c.*19 others(359): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1805 | chrX | TogoVar | ||||||
| CXorf51B_chrX_146804771_146815411 | 146812263 | A | ATATGTGT others(341): Show |
downstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 272 | 0.0037 | 348 | c.*19 others(359): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1853 | chrX | TogoVar | ||||||
| CXorf51B_chrX_146804771_146815411 | 146812296 | T | TGTACATA others(341): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00597.hp2 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0001a0002c0002t0001g0001a0002c0002t0001g0004others(3): Show | 36 | 272 | 0.1324 | 348 | c.*19 others(359): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1886 | chrX | TogoVar | ||||||
| CXorf51B_chrX_146804771_146815411 | 146812300 | C | CATATATA others(341): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02717.hp1 HG02886.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 8 | 272 | 0.0294 | 348 | c.*19 others(359): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1890 | chrX | TogoVar | ||||||
| DCLK2_chr4_150073445_150262438 | 150251281 | A | ACCCCCCA others(341): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0023 | 1 | 116 | 0.0086 | 348 | c.207 others(367): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| DECR2_chr16_396885_417482 | 397703 | G | GGGGGGTG others(341): Show |
upstream_gene_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 367 | 0.0027 | 348 | c.-42 others(359): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4181 | chr16 | TogoVar | ||||||
| DECR2_chr16_396885_417482 | 397707 | T | TGTGGGGG others(341): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 367 | 0.0027 | 348 | c.-42 others(359): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4177 | chr16 | TogoVar | ||||||
| DECR2_chr16_396885_417482 | 397709 | T | TGGGGGGG others(341): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 367 | 0.0027 | 348 | c.-42 others(359): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4175 | chr16 | TogoVar | ||||||
| DGKB_chr7_14140049_14907751 | 14212365 | T | TATTTACT others(341): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0017 | a0001c0017t0024 | a0001c0017t0024g0146 | 1 | 148 | 0.0068 | 348 | c.212 others(369): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 321947 | C | CTGTTAGA others(341): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0062 | 1 | 88 | 0.0114 | 348 | c.392 others(367): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 608564 | C | CACACACA others(341): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0064 | 1 | 88 | 0.0114 | 348 | c.85+ others(365): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 965484 | A | ACTGTTCA others(341): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0028 | 1 | 40 | 0.0250 | 348 | c.73+ others(365): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1181203 | A | ACACTTAC others(341): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02647.hp2 HG03710.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0010a0002c0001t0002a0002c0001t0005 | a0001c0002t0010g0008a0002c0001t0002g0013a0002c0001t0005g0028 | 3 | 40 | 0.0750 | 348 | c.74- others(365): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1508511 | T | TGCAAACC others(341): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0022 | 1 | 40 | 0.0250 | 348 | c.172 others(365): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DNAH3_chr16_20928111_21155846 | 21009885 | G | GAAAAGAA others(341): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0119 | 1 | 234 | 0.0043 | 348 | c.588 others(367): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 41/61 | chr16 | TogoVar | ||||||
| DNAH8_chr6_38710311_39035792 | 38964350 | G | GGACGGGG others(341): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02273.hp1 HG02738.hp1 others(3): Show |
a0002a0004a0021others(1): Show | a0002c0013a0004c0006a0021c0032others(1): Show | a0002c0013t0001a0004c0006t0001a0021c0032t0001others(1): Show | a0002c0013t0001g0058a0002c0013t0001g0081a0004c0006t0001g0095others(3): Show | 6 | 284 | 0.0211 | 348 | c.124 others(369): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 82/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| DNAH8_chr6_38710311_39035792 | 38964350 | G | GGACGGGG others(341): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0008 | a0008c0127 | a0008c0127t0001 | a0008c0127t0001g0152 | 1 | 284 | 0.0035 | 348 | c.124 others(369): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 82/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| DNAH8_chr6_38710311_39035792 | 38964350 | G | GGACGGGG others(341): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0069 | a0069c0062 | a0069c0062t0001 | a0069c0062t0001g0007 | 1 | 284 | 0.0035 | 348 | c.124 others(369): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 82/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| DOCK3_chr3_50669927_51389198 | 50841728 | T | TTATTGTT others(341): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 212 | 0.0047 | 348 | c.162 others(361): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 3/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| DOCK3_chr3_50669927_51389198 | 50841728 | T | TTATTGTT others(341): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 212 | 0.0047 | 348 | c.162 others(361): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 3/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| DOCK8_chr9_209865_470255 | 262448 | T | TAAAAAAA others(341): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0003 | a0003c0138 | a0003c0138t0001 | a0003c0138t0001g0143 | 1 | 256 | 0.0039 | 348 | c.54- others(363): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DOCK8_chr9_209865_470255 | 400623 | C | CCACCAGC others(341): Show |
intron_variant | MODIFIER | NA18994.hp1 NA19005.hp1 |
a0017 | a0017c0023 | a0017c0023t0005 | a0017c0023t0005g0207a0017c0023t0005g0208 | 2 | 256 | 0.0078 | 348 | c.323 others(367): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DUSP16_chr12_12468282_12567863 | 12565835 | A | ATCTGGGA others(341): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 352 | 0.0028 | 348 | c.-40 others(359): Show |
DUSP16 | ENSG00000111266.9 | transcript | ENST00000298573.9 | protein_coding | 2973 | chr12 | TogoVar | ||||||
| DYNLRB1_chr20_34511422_34545958 | 34538492 | T | TAAAGCTG others(341): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 384 | 0.0026 | 348 | c.248 others(365): Show |
DYNLRB1 | ENSG00000125971.18 | transcript | ENST00000357156.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| EEF1A2_chr20_63483014_63504083 | 63486895 | C | CCCTCCAC others(341): Show |
downstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 374 | 0.0027 | 348 | c.*14 others(359): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1118 | chr20 | TogoVar | ||||||
| ELF2_chr4_139052265_139182218 | 139151028 | A | AAAGAAAG others(341): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0231 | 1 | 342 | 0.0029 | 348 | c.-25 others(369): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 1/9 | chr4 | TogoVar | ||||||
| ELMOD3_chr2_85349769_85396748 | 85362448 | T | TAAGATAA others(341): Show |
intron_variant | MODIFIER | NA18940.hp1 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250a0001c0001t0001g0251 | 2 | 386 | 0.0052 | 348 | c.129 others(363): Show |
ELMOD3 | ENSG00000115459.18 | transcript | ENST00000409013.8 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EML1_chr14_99788413_99947060 | 99928006 | A | AGGTGGTG others(341): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0079 | 1 | 288 | 0.0035 | 348 | c.190 others(367): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| ENPP3_chr6_131632302_131752410 | 131694954 | T | TTGGCTAA others(341): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0275 | 1 | 278 | 0.0036 | 348 | c.141 others(367): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 15/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| EPHA3_chr3_89102621_89487134 | 89246423 | T | TAGAATAA others(341): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0190 | 1 | 200 | 0.0050 | 348 | c.814 others(367): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| EVA1C_chr21_32407706_32520387 | 32477799 | C | CACCTCCC others(341): Show |
intron_variant | MODIFIER | NA18965.hp1 NA18975.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0111a0001c0002t0001g0114 | 2 | 346 | 0.0058 | 348 | c.634 others(365): Show |
EVA1C | ENSG00000166979.13 | transcript | ENST00000300255.7 | protein_coding | 4/7 | chr21 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137327802 | G | GATGAGTA others(341): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0031 | a0031c0033 | a0031c0033t0001 | a0031c0033t0001g0017 | 1 | 82 | 0.0122 | 348 | c.199 others(367): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137327802 | G | GATGAGTA others(341): Show |
intron_variant | MODIFIER | HG02165.hp1 HG02976.hp1 HG02976.hp2 others(4): Show |
a0001a0002a0010others(1): Show | a0001c0001a0002c0002a0010c0006others(1): Show | a0001c0001t0001a0002c0002t0001a0010c0006t0001others(1): Show | a0001c0001t0001g0042a0001c0001t0001g0044a0001c0001t0001g0063others(4): Show | 7 | 82 | 0.0854 | 348 | c.199 others(367): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| FAF1_chr1_50432028_50965267 | 50446976 | T | TCCCTAAT others(341): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0023 | 1 | 190 | 0.0053 | 348 | c.187 others(367): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 18/18 | chr1 | TogoVar | ||||||
| FAM174B_chr15_92612448_92660775 | 92630835 | A | ACATATTA others(341): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0344 | 1 | 394 | 0.0025 | 348 | c.345 others(363): Show |
FAM174B | ENSG00000185442.13 | transcript | ENST00000327355.6 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
| FAM174B_chr15_92612448_92660775 | 92630835 | A | ACATATTA others(341): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0334 | 1 | 394 | 0.0025 | 348 | c.345 others(363): Show |
FAM174B | ENSG00000185442.13 | transcript | ENST00000327355.6 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
| FBXL20_chr17_39247663_39406626 | 39249140 | T | TAAAACAC others(341): Show |
downstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 230 | 0.0044 | 348 | c.*12 others(361): Show |
FBXL20 | ENSG00000108306.13 | transcript | ENST00000264658.11 | protein_coding | 3522 | chr17 | TogoVar | ||||||
| FER1L5_chr2_96637764_96709883 | 96659337 | C | CTTCCTGT others(341): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0016 | a0016c0015 | a0016c0015t0001 | a0016c0015t0001g0136 | 1 | 226 | 0.0044 | 348 | c.748 others(365): Show |
FER1L5 | ENSG00000249715.13 | transcript | ENST00000624922.6 | protein_coding | 9/52 | chr2 | TogoVar | ||||||
| FKBP2_chr11_64236095_64249132 | 64237081 | C | CGAGAGAG others(341): Show |
upstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 332 | 0.0030 | 348 | c.-40 others(359): Show |
FKBP2 | ENSG00000173486.14 | transcript | ENST00000309366.9 | protein_coding | 4013 | chr11 | TogoVar | ||||||
| FRMPD3_chrX_107444652_107610251 | 107570243 | T | TGAAATGT others(341): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03041.hp2 HG03225.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0002a0002c0006t0002 | a0001c0002t0002g0026a0002c0006t0002g0174a0002c0006t0002g0179others(1): Show | 4 | 183 | 0.0219 | 348 | c.129 others(367): Show |
FRMPD3 | ENSG00000147234.11 | transcript | ENST00000683843.1 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| FTCD_chr21_46131779_46160579 | 46135873 | T | TCCCTCCC others(341): Show |
downstream_gene_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0094 | 1 | 230 | 0.0044 | 348 | c.*11 others(359): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 905 | chr21 | TogoVar | ||||||
| FURIN_chr15_90863588_90888457 | 90871538 | G | GCGGCGGG others(341): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 | 1 | 360 | 0.0028 | 348 | c.-16 others(367): Show |
FURIN | ENSG00000140564.13 | transcript | ENST00000268171.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| FURIN_chr15_90863588_90888457 | 90871538 | G | GCGGCGGG others(341): Show |
intron_variant | MODIFIER | HG01261.hp1 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042a0001c0001t0002g0093 | 2 | 360 | 0.0056 | 348 | c.-16 others(367): Show |
FURIN | ENSG00000140564.13 | transcript | ENST00000268171.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| GHR_chr5_42418439_42726878 | 42666179 | T | TAAGTTCT others(341): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0098 | 1 | 210 | 0.0048 | 348 | c.137 others(367): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |