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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CXCL6_chr4_73831678_73843760 | 73842184 | T | TAATTATA others(301): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG02071.hp2 NA18962.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 6 | 444 | 0.0135 | 308 | c.*45 others(319): Show |
CXCL6 | ENSG00000124875.10 | transcript | ENST00000226317.10 | protein_coding | 3425 | chr4 | TogoVar | ||||||
CXorf51A_chrX_146809106_146819744 | 146812296 | T | TGTACATA others(301): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00733.hp1 others(42): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0002c0003t0001a0003c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0002c0003t0001g0007others(1): Show | 45 | 264 | 0.1705 | 308 | c.*19 others(319): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1809 | chrX | TogoVar | ||||||
CXorf51A_chrX_146809106_146819744 | 146812296 | T | TGTACATA others(301): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 264 | 0.0038 | 308 | c.*19 others(319): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1809 | chrX | TogoVar | ||||||
CXorf51A_chrX_146809106_146819744 | 146812300 | C | CATATATA others(301): Show |
downstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 264 | 0.0038 | 308 | c.*19 others(319): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1805 | chrX | TogoVar | ||||||
CXorf51B_chrX_146804771_146815411 | 146812296 | T | TGTACATA others(301): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00738.hp1 others(35): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0002c0002t0001a0003c0004t0001 | a0001c0001t0001g0001a0002c0002t0001g0001a0003c0004t0001g0001 | 38 | 272 | 0.1397 | 308 | c.*19 others(319): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1886 | chrX | TogoVar | ||||||
CXorf51B_chrX_146804771_146815411 | 146812296 | T | TGTACATA others(301): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 272 | 0.0037 | 308 | c.*19 others(319): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1886 | chrX | TogoVar | ||||||
CXorf51B_chrX_146804771_146815411 | 146812300 | C | CATATATA others(301): Show |
downstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 272 | 0.0037 | 308 | c.*19 others(319): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1890 | chrX | TogoVar | ||||||
CYP3A5_chr7_99643194_99684996 | 99675638 | T | TCTCCTCT others(301): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 292 | 0.0034 | 308 | c.165 others(323): Show |
CYP3A5 | ENSG00000106258.16 | transcript | ENST00000222982.8 | protein_coding | 2/12 | chr7 | TogoVar | ||||||
CYTIP_chr2_157409619_157449089 | 157423466 | T | TAAAAAAA others(301): Show |
intron_variant | MODIFIER | HG02165.hp1 NA18967.hp1 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0008a0001c0001t0005g0144 | 3 | 320 | 0.0094 | 308 | c.546 others(325): Show |
CYTIP | ENSG00000115165.10 | transcript | ENST00000264192.8 | protein_coding | 6/7 | chr2 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251171 | C | CACCCCCC others(301): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 116 | 0.0086 | 308 | c.207 others(327): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DCUN1D4_chr4_51838153_51921837 | 51897576 | T | TAAAAATA others(301): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0111 | 1 | 262 | 0.0038 | 308 | c.507 others(325): Show |
DCUN1D4 | ENSG00000109184.15 | transcript | ENST00000334635.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DDX51_chr12_132131594_132149319 | 132148957 | A | ACTCACAC others(301): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 | 1 | 334 | 0.0030 | 308 | c.-46 others(319): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4639 | chr12 | TogoVar | ||||||
DDX51_chr12_132131594_132149319 | 132148992 | C | CGCCGCCT others(301): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0077 | 1 | 334 | 0.0030 | 308 | c.-46 others(319): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4674 | chr12 | TogoVar | ||||||
DECR2_chr16_396885_417482 | 397707 | T | TGTGGGGG others(301): Show |
upstream_gene_variant | MODIFIER | NA18947.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 | 1 | 367 | 0.0027 | 308 | c.-42 others(319): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4177 | chr16 | TogoVar | ||||||
DENND1A_chr9_123374658_123935126 | 123577672 | A | AAAGAAAT others(301): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 162 | 0.0062 | 308 | c.867 others(325): Show |
DENND1A | ENSG00000119522.18 | transcript | ENST00000394215.7 | protein_coding | 12/23 | chr9 | TogoVar | ||||||
DHTKD1_chr10_12063954_12128221 | 12076056 | T | TAGAACTG others(301): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 374 | 0.0027 | 308 | c.155 others(325): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DIDO1_chr20_62872743_62931505 | 62875245 | C | CCCCCACC others(301): Show |
downstream_gene_variant | MODIFIER | NA18977.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0026 | 1 | 320 | 0.0031 | 308 | c.*39 others(319): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2497 | chr20 | TogoVar | ||||||
DIRAS1_chr19_2709567_2726372 | 2713254 | A | ACCTCACT others(301): Show |
downstream_gene_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 412 | 0.0024 | 308 | c.*39 others(319): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 1312 | chr19 | TogoVar | ||||||
DIRAS1_chr19_2709567_2726372 | 2713405 | T | TCACCTCC others(301): Show |
downstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0013 | 1 | 412 | 0.0024 | 308 | c.*38 others(319): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 1161 | chr19 | TogoVar | ||||||
DIRAS1_chr19_2709567_2726372 | 2713578 | G | GCACCACC others(301): Show |
downstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0029 | 1 | 412 | 0.0024 | 308 | c.*36 others(319): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 988 | chr19 | TogoVar | ||||||
DIRAS1_chr19_2709567_2726372 | 2713578 | G | GCACCACC others(301): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00738.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0001a0001c0001t0002g0038a0001c0001t0006g0007others(1): Show | 20 | 412 | 0.0485 | 308 | c.*36 others(319): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 988 | chr19 | TogoVar | ||||||
DIRAS1_chr19_2709567_2726372 | 2713669 | C | CCACCTCC others(301): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007 | 1 | 412 | 0.0024 | 308 | c.*35 others(319): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 897 | chr19 | TogoVar | ||||||
DIRAS1_chr19_2709567_2726372 | 2713757 | C | CCACCTCC others(301): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 412 | 0.0024 | 308 | c.*34 others(319): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 809 | chr19 | TogoVar | ||||||
DIRAS1_chr19_2709567_2726372 | 2713915 | C | CGTCACTG others(301): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0023 | 1 | 412 | 0.0024 | 308 | c.*32 others(319): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 651 | chr19 | TogoVar | ||||||
DIRAS1_chr19_2709567_2726372 | 2713937 | C | CTCCTCCA others(301): Show |
downstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 412 | 0.0024 | 308 | c.*32 others(319): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 629 | chr19 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522629 | G | GCCCAGCC others(301): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0118 | 1 | 358 | 0.0028 | 308 | c.236 others(327): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 262448 | T | TAAAAAAA others(301): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG02145.hp2 others(7): Show |
a0003a0005a0021others(5): Show | a0003c0135a0005c0145a0005c0155others(7): Show | a0003c0135t0001a0005c0145t0001a0005c0155t0001others(7): Show | a0003c0135t0001g0173a0005c0145t0001g0172a0005c0155t0001g0176others(7): Show | 10 | 256 | 0.0391 | 308 | c.54- others(323): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DOP1B_chr21_36151824_36299274 | 36285426 | A | ACTACGTG others(301): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0025 | a0001c0025t0002 | a0001c0025t0002g0057 | 1 | 292 | 0.0034 | 308 | c.616 others(327): Show |
DOP1B | ENSG00000142197.13 | transcript | ENST00000691173.1 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89617661 | C | CGCGGCGG others(301): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02622.hp2 HG02818.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0004 | a0001c0001t0001a0003c0003t0002a0003c0004t0002 | a0001c0001t0001g0035a0001c0001t0001g0043a0001c0001t0001g0044others(5): Show | 8 | 250 | 0.0320 | 308 | c.-10 others(327): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89617675 | C | CCTGTAAT others(301): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00609.hp2 others(28): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0008 | a0001c0001t0001a0002c0002t0001a0006c0008t0001 | a0001c0001t0001g0036a0001c0001t0001g0097a0001c0001t0001g0098others(28): Show | 31 | 250 | 0.1240 | 308 | c.-10 others(327): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89617675 | C | CCTGTAAT others(301): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01167.hp1 HG01891.hp1 others(16): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0084others(16): Show | 19 | 250 | 0.0760 | 308 | c.-10 others(327): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89617675 | C | CCTGTAAT others(301): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0082 | 2 | 250 | 0.0080 | 308 | c.-10 others(327): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89617675 | C | CCTGTAAT others(301): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02818.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(1): Show | 4 | 250 | 0.0160 | 308 | c.-10 others(327): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89617675 | C | CCTGTAAT others(301): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 250 | 0.0040 | 308 | c.-10 others(327): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89617675 | C | CCTGTAAT others(301): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059a0001c0001t0001g0205a0001c0001t0001g0209 | 3 | 250 | 0.0120 | 308 | c.-10 others(327): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89617675 | C | CCTGTAAT others(301): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG00733.hp2 others(13): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0010 | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(2): Show | a0001c0001t0001g0135a0001c0001t0001g0151a0001c0001t0001g0157others(13): Show | 16 | 250 | 0.0640 | 308 | c.-10 others(327): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89617675 | C | CCTGTAAT others(301): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02735.hp1 NA18612.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0004 | a0001c0001t0001g0056a0002c0002t0001g0148a0002c0002t0004g0149 | 3 | 250 | 0.0120 | 308 | c.-10 others(327): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89617675 | C | CCTGTAAT others(301): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 250 | 0.0040 | 308 | c.-10 others(327): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89617675 | C | CCTGTAAT others(301): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG01071.hp2 others(40): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0086a0001c0001t0001g0087others(40): Show | 43 | 250 | 0.1720 | 308 | c.-10 others(327): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89617675 | C | CCTGTAAT others(301): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 250 | 0.0040 | 308 | c.-10 others(327): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89617711 | G | GGCTCACA others(301): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 250 | 0.0040 | 308 | c.-10 others(327): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DST_chr6_56452996_56959830 | 56890108 | C | CAAAAACG others(301): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0010 | a0010c0057 | a0010c0057t0001 | a0010c0057t0001g0015 | 1 | 84 | 0.0119 | 308 | c.417 others(327): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 3/103 | chr6 | TogoVar | ||||||
ECHDC2_chr1_52890910_52926740 | 52923161 | T | TAAAAAAA others(301): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 HG03453.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0040 | 2 | 314 | 0.0064 | 308 | c.-14 others(319): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 1422 | chr1 | TogoVar | ||||||
ENY2_chr8_109329347_109350954 | 109337068 | T | TCATTTAA others(301): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02630.hp2 HG03239.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0032 | 4 | 428 | 0.0094 | 308 | c.83+ others(321): Show |
ENY2 | ENSG00000120533.13 | transcript | ENST00000521688.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EPSTI1_chr13_42881388_42997241 | 42885377 | T | TAAAAAAA others(301): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0018 | 1 | 352 | 0.0028 | 308 | c.*31 others(319): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 1010 | chr13 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64312983 | G | GGATCACA others(301): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02451.hp1 HG02622.hp2 others(3): Show |
a0001a0003a0013others(3): Show | a0001c0012a0003c0002a0013c0020others(3): Show | a0001c0012t0002a0003c0002t0002a0013c0020t0002others(3): Show | a0001c0012t0002g0021a0003c0002t0002g0019a0013c0020t0002g0022others(3): Show | 6 | 24 | 0.2500 | 308 | c.607 others(327): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 29/42 | chr6 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170398809 | T | TCTTAGGA others(301): Show |
intron_variant | MODIFIER | HG00323.hp2 HG03710.hp1 NA18959.hp2 others(1): Show |
a0001 | a0001c0001a0001c0018 | a0001c0001t0005a0001c0001t0006a0001c0001t0014others(1): Show | a0001c0001t0005g0258a0001c0001t0006g0201a0001c0001t0014g0212others(1): Show | 4 | 289 | 0.0138 | 308 | c.269 others(327): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FAM83D_chr20_38921417_38958106 | 38955477 | A | AAAAAAAA others(301): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 | a0013 | a0013c0017 | a0013c0017t0003 | a0013c0017t0003g0125 | 1 | 342 | 0.0029 | 308 | c.*29 others(319): Show |
FAM83D | ENSG00000101447.15 | transcript | ENST00000619850.2 | protein_coding | 2372 | chr20 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132576199 | T | TTTTTTTT others(301): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0000 | a0000c0019 | a0000c0019t0011 | a0000c0019t0011g0313 | 1 | 348 | 0.0029 | 308 | c.170 others(325): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
FBRSL1_chr12_132485151_132590188 | 132576199 | T | TTTTTTTT others(301): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02723.hp1 |
a0000a0008 | a0000c0043a0008c0027 | a0000c0043t0011a0008c0027t0026 | a0000c0043t0011g0177a0008c0027t0026g0175 | 2 | 348 | 0.0058 | 308 | c.170 others(325): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |