| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCDC141_chr2_178824757_179055137 | 179015520 | C | CATATATC others(228): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0006 | a0002c0006t0084 | a0002c0006t0084g0273 | 1 | 274 | 0.0037 | 235 | c.225 others(254): Show |
CCDC141 | ENSG00000163492.16 | transcript | ENST00000443758.7 | protein_coding | 2/23 | chr2 | TogoVar | |||||||
| CDHR2_chr5_176544342_176600824 | 176591765 | G | GGTGTTGA others(228): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0115 | 1 | 344 | 0.0029 | 235 | c.373 others(252): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | chr5 | TogoVar | |||||||
| CEP72_chr5_607340_658553 | 629851 | G | GACCAGTC others(228): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0014 | 1 | 91 | 0.0110 | 235 | c.513 others(252): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | TogoVar | |||||||
| CFAP20DC_chr3_58737008_59055025 | 58856066 | T | TAAAAATA others(228): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0157 | 1 | 204 | 0.0049 | 235 | c.159 others(254): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 12/16 | chr3 | TogoVar | |||||||
| CFAP46_chr10_132803392_132947570 | 132888362 | G | GTACCCCT others(228): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0010 | a0010c0072 | a0010c0072t0002 | a0010c0072t0002g0004 | 1 | 246 | 0.0041 | 235 | c.330 others(254): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
| CHRM3_chr1_239381568_239920450 | 239732891 | A | ATCTCATT others(228): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0034 | 1 | 116 | 0.0086 | 235 | c.-14 others(256): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| CLEC1B_chr12_9988075_10004121 | 10002447 | T | TGACCAGA others(228): Show |
upstream_gene_variant | MODIFIER | NA18944.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 | 1 | 462 | 0.0022 | 235 | c.-33 others(246): Show |
CLEC1B | ENSG00000165682.15 | transcript | ENST00000298527.11 | protein_coding | 3327 | chr12 | TogoVar | |||||||
| CNR2_chr1_23865515_23918362 | 23899941 | G | GAAAGAAA others(228): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0159 | 1 | 268 | 0.0037 | 235 | c.-46 others(254): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
| COMMD10_chr5_116080025_116298287 | 116158474 | C | CCTCTCTC others(228): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0085 | 1 | 350 | 0.0029 | 235 | c.510 others(254): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| CREG1_chr1_167536013_167558762 | 167536857 | T | TAAAATTT others(228): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003a0001c0001t0002g0023 | 2 | 418 | 0.0048 | 235 | c.*54 others(246): Show |
CREG1 | ENSG00000143162.9 | transcript | ENST00000370509.5 | protein_coding | 4155 | chr1 | TogoVar | |||||||
| CSMD1_chr8_2930361_4999914 | 3448329 | A | AAGGGAGG others(228): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0028 | a0028c0097 | a0028c0097t0018 | a0028c0097t0018g0089 | 1 | 126 | 0.0079 | 235 | c.156 others(256): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | |||||||
| CUL4A_chr13_113204613_113272108 | 113232039 | C | CCACCACT others(228): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270a0001c0001t0001g0271 | 2 | 396 | 0.0051 | 235 | c.513 others(252): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| CUL4A_chr13_113204613_113272108 | 113232250 | G | GTCACCAC others(228): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0036 | 1 | 396 | 0.0025 | 235 | c.513 others(250): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
| CYP3A5_chr7_99643194_99684996 | 99675638 | T | TCTCCTCT others(228): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 292 | 0.0034 | 235 | c.165 others(250): Show |
CYP3A5 | ENSG00000106258.16 | transcript | ENST00000222982.8 | protein_coding | 2/12 | chr7 | TogoVar | |||||||
| CYP3A5_chr7_99643194_99684996 | 99675638 | T | TCTCCTCT others(228): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03225.hp1 HG06807.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0020a0001c0004t0001g0007 | 5 | 292 | 0.0171 | 235 | c.165 others(250): Show |
CYP3A5 | ENSG00000106258.16 | transcript | ENST00000222982.8 | protein_coding | 2/12 | chr7 | TogoVar | |||||||
| CYSLTR1_chrX_78266468_78332611 | 78269066 | T | TTATATAT others(228): Show |
downstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 240 | 0.0042 | 235 | c.*36 others(246): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 2401 | chrX | TogoVar | |||||||
| DCLK2_chr4_150073445_150262438 | 150251209 | T | TCCCCCAT others(228): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 116 | 0.0086 | 235 | c.207 others(254): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| DENND1B_chr1_197499748_197780480 | 197713905 | A | AATATATT others(228): Show |
intron_variant | MODIFIER | NA18954.hp1 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056a0001c0001t0003g0065 | 2 | 280 | 0.0071 | 235 | c.126 others(252): Show |
DENND1B | ENSG00000213047.13 | transcript | ENST00000620048.6 | protein_coding | 3/22 | chr1 | TogoVar | |||||||
| DFFB_chr1_3852476_3890429 | 3868659 | G | GCCACGCC others(228): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02559.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0007g0323 | 3 | 404 | 0.0074 | 235 | c.510 others(250): Show |
DFFB | ENSG00000169598.17 | transcript | ENST00000378209.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| DGAT1_chr8_144309584_144331852 | 144313665 | G | GCCTCCCC others(228): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0011 | a0001c0011t0018 | a0001c0011t0018g0040 | 1 | 370 | 0.0027 | 235 | c.*28 others(246): Show |
DGAT1 | ENSG00000185000.12 | transcript | ENST00000528718.6 | protein_coding | 918 | chr8 | TogoVar | |||||||
| DGKD_chr2_233349494_233477098 | 233397135 | A | ACCAGAGG others(228): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0054 | 1 | 336 | 0.0030 | 235 | c.348 others(252): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| DIP2B_chr12_50499985_50753657 | 50593816 | T | TCTCCCCT others(228): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 284 | 0.0035 | 235 | c.101 others(254): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| DIP2B_chr12_50499985_50753657 | 50593816 | T | TCTCCCCT others(228): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0006 | a0006c0017 | a0006c0017t0001 | a0006c0017t0001g0138 | 1 | 284 | 0.0035 | 235 | c.101 others(254): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 478386 | G | GGGGAGAA others(228): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0069 | 1 | 88 | 0.0114 | 235 | c.158 others(252): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
| DIP2C_chr10_269201_694668 | 478386 | G | GGGGAGAG others(228): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0042 | 1 | 88 | 0.0114 | 235 | c.158 others(252): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
| DIP2C_chr10_269201_694668 | 516522 | G | GAGGGGGG others(228): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0088 | 1 | 88 | 0.0114 | 235 | c.86- others(252): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1450273 | G | GGAGCTGT others(228): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0002 | a0002c0001 | a0002c0001t0011 | a0002c0001t0011g0001 | 1 | 40 | 0.0250 | 235 | c.107 others(254): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1450414 | T | TGAGCTGT others(228): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0011 | a0001c0011t0015 | a0001c0011t0015g0002 | 1 | 40 | 0.0250 | 235 | c.107 others(254): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| DOCK1_chr10_126900428_127457516 | 126947380 | A | ATGGTGGT others(228): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0037 | a0001c0037t0002 | a0001c0037t0002g0117 | 1 | 136 | 0.0074 | 235 | c.47- others(252): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| DOCK1_chr10_126900428_127457516 | 126947476 | G | GTGGTGAT others(228): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0086 | 1 | 136 | 0.0074 | 235 | c.47- others(252): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| DOCK1_chr10_126900428_127457516 | 126947881 | A | ATGGTGGT others(228): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 | 1 | 136 | 0.0074 | 235 | c.47- others(252): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| DOCK1_chr10_126900428_127457516 | 126947906 | T | TTGGTGGT others(228): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0007 | 1 | 136 | 0.0074 | 235 | c.47- others(252): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| DOK7_chr4_3458306_3499482 | 3490379 | C | CACCCCCT others(228): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 404 | 0.0025 | 235 | c.772 others(250): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| DPEP1_chr16_89608642_89643433 | 89634589 | T | TCCTTTCC others(228): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 250 | 0.0040 | 235 | c.105 others(252): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| DPYSL2_chr8_26509031_26663175 | 26556353 | T | TGTATATA others(228): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0121 | 1 | 316 | 0.0032 | 235 | c.355 others(254): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
| DYNC1LI1_chr3_32520974_32575858 | 32538048 | A | AATTATAT others(228): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01168.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0068a0001c0001t0005g0074a0001c0001t0005g0266 | 3 | 336 | 0.0089 | 235 | c.739 others(250): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 5/12 | chr3 | TogoVar | |||||||
| EHMT1_chr9_137614005_137841127 | 137810110 | C | CGGTGATG others(228): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG01891.hp2 others(25): Show |
a0001a0003 | a0001c0003a0001c0006a0001c0007others(3): Show | a0001c0003t0001a0001c0006t0001a0001c0007t0001others(3): Show | a0001c0003t0001g0001a0001c0003t0001g0057a0001c0003t0001g0058others(25): Show | 28 | 170 | 0.1647 | 235 | c.271 others(254): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| EIF4G3_chr1_20801479_21181897 | 21179788 | A | ATATATTA others(228): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0044 | 1 | 312 | 0.0032 | 235 | c.-35 others(246): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 2892 | chr1 | TogoVar | |||||||
| ENTR1_chr9_136396922_136415614 | 136403322 | G | GGGGGGAG others(228): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 412 | 0.0024 | 235 | c.120 others(252): Show |
ENTR1 | ENSG00000165689.17 | transcript | ENST00000357365.8 | protein_coding | 9/9 | chr9 | TogoVar | |||||||
| ENTR1_chr9_136396922_136415614 | 136403327 | G | GAGAAAGG others(228): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 412 | 0.0024 | 235 | c.120 others(252): Show |
ENTR1 | ENSG00000165689.17 | transcript | ENST00000357365.8 | protein_coding | 9/9 | chr9 | TogoVar | |||||||
| ENTR1_chr9_136396922_136415614 | 136403374 | G | GAGAAAGG others(228): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 412 | 0.0024 | 235 | c.120 others(252): Show |
ENTR1 | ENSG00000165689.17 | transcript | ENST00000357365.8 | protein_coding | 9/9 | chr9 | TogoVar | |||||||
| ERFL_chr19_41902704_41933449 | 41914546 | T | TTCCCTCC others(228): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 330 | 0.0030 | 235 | c.-13 others(252): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
| EXD3_chr9_137301896_137428162 | 137355513 | A | AGGAGGAT others(228): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0041 | 1 | 82 | 0.0122 | 235 | c.758 others(250): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
| EYS_chr6_63714980_65712226 | 64295352 | A | AGGAGGAG others(228): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0009 | a0009c0006 | a0009c0006t0001 | a0009c0006t0001g0004 | 1 | 24 | 0.0417 | 235 | c.619 others(256): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 30/42 | chr6 | TogoVar | |||||||
| FAM118B_chr11_126206782_126267968 | 126226100 | A | AAGGCCAG others(228): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 346 | 0.0029 | 235 | c.-76 others(252): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| FAM118B_chr11_126206782_126267968 | 126226100 | A | AAGGCCAG others(228): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG02572.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148a0001c0001t0001g0169a0001c0001t0001g0172others(7): Show | 10 | 346 | 0.0289 | 235 | c.-76 others(252): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| FAM118B_chr11_126206782_126267968 | 126226220 | T | TTCCTATC others(228): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 346 | 0.0029 | 235 | c.-76 others(252): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| FAM13A_chr4_88720960_89062185 | 89042101 | C | CAAGGTGA others(228): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 208 | 0.0048 | 235 | c.28- others(252): Show |
FAM13A | ENSG00000138640.15 | transcript | ENST00000264344.10 | protein_coding | 1/23 | chr4 | TogoVar | |||||||
| FAM3B_chr21_41311801_41362727 | 41313428 | A | AATTTGAT others(228): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG00733.hp1 others(62): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0052a0001c0001t0001g0060others(50): Show | 65 | 314 | 0.2070 | 235 | c.-34 others(246): Show |
FAM3B | ENSG00000183844.17 | transcript | ENST00000357985.7 | protein_coding | 3372 | chr21 | TogoVar | |||||||
| FAM3B_chr21_41311801_41362727 | 41313500 | C | CATACAGT others(228): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054a0001c0001t0001g0056 | 2 | 314 | 0.0064 | 235 | c.-33 others(246): Show |
FAM3B | ENSG00000183844.17 | transcript | ENST00000357985.7 | protein_coding | 3300 | chr21 | TogoVar |