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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSMD1_chr8_2930361_4999914 | 3795704 | TCTATCAA others(62): Show |
T | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0061 | a0001c0061t0001 | a0001c0061t0001g0021 | 1 | 126 | 0.0079 | -69 | c.819 others(88): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3795890 | TACAGATA others(62): Show |
T | intron_variant | MODIFIER | HG02055.hp1 | a0006 | a0006c0083 | a0006c0083t0004 | a0006c0083t0004g0006 | 1 | 126 | 0.0079 | -69 | c.819 others(88): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4920877 | AAAAGAAA others(62): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp2 HG02056.hp2 others(4): Show |
a0001a0002a0022others(1): Show | a0001c0001a0001c0071a0001c0073others(4): Show | a0001c0001t0002a0001c0071t0069a0001c0073t0007others(4): Show | a0001c0001t0002g0125a0001c0071t0069g0115a0001c0073t0007g0108others(4): Show | 7 | 126 | 0.0556 | -69 | c.85+ others(86): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
CYFIP1_chr15_22862052_22985368 | 22964284 | ACACACAC others(62): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG03540.hp1 |
a0001a0003 | a0001c0007a0003c0027 | a0001c0007t0023a0003c0027t0013 | a0001c0007t0023g0099a0003c0027t0013g0078 | 2 | 342 | 0.0059 | -69 | c.-7+ others(86): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 1/30 | chr15 | TogoVar | ||||||
DACT2_chr6_168301904_168324777 | 168321856 | TCTTCCTC others(62): Show |
T | upstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142 | 1 | 476 | 0.0021 | -69 | c.-22 others(80): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 2080 | chr6 | TogoVar | ||||||
DDX51_chr12_132131594_132149319 | 132134840 | ACGGTGCC others(62): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp2 NA18906.hp2 |
a0004 | a0004c0012 | a0004c0012t0013 | a0004c0012t0013g0018 | 2 | 334 | 0.0060 | -69 | c.*43 others(80): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1753 | chr12 | TogoVar | ||||||
DDX51_chr12_132131594_132149319 | 132135167 | GCTCCTCC others(62): Show |
G | downstream_gene_variant | MODIFIER | NA18983.hp2 NA19005.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0006 | 2 | 334 | 0.0060 | -69 | c.*40 others(80): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1426 | chr12 | TogoVar | ||||||
DDX51_chr12_132131594_132149319 | 132135766 | CGCTCCTC others(62): Show |
C | downstream_gene_variant | MODIFIER | HG01099.hp2 HG01123.hp1 HG01167.hp2 others(3): Show |
a0002 | a0002c0005a0002c0032 | a0002c0005t0005a0002c0032t0005 | a0002c0005t0005g0008a0002c0032t0005g0092 | 6 | 334 | 0.0180 | -69 | c.*34 others(80): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 827 | chr12 | TogoVar | ||||||
DDX51_chr12_132131594_132149319 | 132135895 | CCGGTGCC others(62): Show |
C | downstream_gene_variant | MODIFIER | HG04204.hp2 | a0003 | a0003c0003 | a0003c0003t0032 | a0003c0003t0032g0046 | 1 | 334 | 0.0030 | -69 | c.*33 others(80): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 698 | chr12 | TogoVar | ||||||
DDX51_chr12_132131594_132149319 | 132136164 | CCCCGAGT others(62): Show |
C | downstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01884.hp2 others(14): Show |
a0001a0002a0019 | a0001c0001a0002c0002a0019c0030 | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0073a0002c0002t0002g0003others(5): Show | 17 | 334 | 0.0509 | -69 | c.*30 others(80): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 429 | chr12 | TogoVar | ||||||
DDX60_chr4_168211294_168323752 | 168297269 | AAAAGAAA others(62): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02895.hp1 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0044 | 3 | 270 | 0.0111 | -69 | c.724 others(86): Show |
DDX60 | ENSG00000137628.18 | transcript | ENST00000393743.8 | protein_coding | 6/37 | chr4 | TogoVar | ||||||
DEFB126_chr20_137590_150751 | 149013 | ACCATATT others(62): Show |
A | downstream_gene_variant | MODIFIER | HG00621.hp2 NA18747.hp1 NA18941.hp2 others(20): Show |
a0000a0001 | a0000c0004a0001c0001 | a0000c0004t0001a0001c0001t0001 | a0000c0004t0001g0005a0000c0004t0001g0019a0001c0001t0001g0001 | 23 | 460 | 0.0500 | -69 | c.*33 others(80): Show |
DEFB126 | ENSG00000125788.6 | transcript | ENST00000382398.4 | protein_coding | 3263 | chr20 | TogoVar | ||||||
DGKG_chr3_186142201_186367234 | 186355309 | CCCACCAC others(62): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0198 | 1 | 234 | 0.0043 | -69 | c.-24 others(88): Show |
DGKG | ENSG00000058866.15 | transcript | ENST00000265022.8 | protein_coding | 1/24 | chr3 | TogoVar | ||||||
DHRS12_chr13_51762993_51809163 | 51774950 | TGTATTCT others(62): Show |
T | intron_variant | MODIFIER | HG01934.hp1 HG01978.hp2 HG02145.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0072a0002c0002t0003g0074a0002c0002t0003g0244others(3): Show | 6 | 420 | 0.0143 | -69 | c.364 others(84): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | ||||||
DHRS12_chr13_51762993_51809163 | 51775500 | TGTATTCT others(62): Show |
T | intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0049 | 1 | 420 | 0.0024 | -69 | c.363 others(86): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2485749 | GGGAAGGA others(62): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00673.hp1 HG01261.hp1 others(16): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0012a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0011a0001c0012t0010others(7): Show | a0001c0001t0001g0012a0001c0001t0001g0023a0001c0001t0001g0024others(16): Show | 19 | 50 | 0.3800 | -69 | c.109 others(88): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 1/6 | chrX | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 418036 | GTTCCTGT others(62): Show |
G | intron_variant | MODIFIER | HG02004.hp2 HG02647.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0002t0003a0001c0008t0001others(1): Show | a0001c0001t0001g0008a0001c0002t0003g0005a0001c0002t0003g0006others(2): Show | 5 | 88 | 0.0568 | -69 | c.739 others(85): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 6/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 418047 | GGCTTCGA others(62): Show |
G | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0003 | 1 | 88 | 0.0114 | -69 | c.739 others(85): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 6/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 418052 | CGATAGGC others(62): Show |
C | intron_variant | MODIFIER | HG01952.hp1 HG03225.hp2 |
a0001 | a0001c0002a0001c0015 | a0001c0002t0003a0001c0015t0002 | a0001c0002t0003g0036a0001c0015t0002g0083 | 2 | 88 | 0.0227 | -69 | c.739 others(85): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 6/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 540980 | GTGGGGAG others(62): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp2 HG01099.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0013a0001c0001t0001g0022a0001c0001t0001g0026others(27): Show | 30 | 88 | 0.3409 | -69 | c.86- others(86): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 608113 | ACCACACA others(62): Show |
A | intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0075 | 1 | 88 | 0.0114 | -69 | c.85+ others(86): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1316714 | TAGTGGTC others(62): Show |
T | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0039 | 1 | 40 | 0.0250 | -69 | c.106 others(88): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLK1_chr14_100721892_100743224 | 100737017 | CCCCCACC others(62): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0001 | 1 | 424 | 0.0024 | -69 | c.*21 others(80): Show |
DLK1 | ENSG00000185559.16 | transcript | ENST00000341267.9 | protein_coding | 5/5 | 2143 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||
DNAAF5_chr7_721699_791475 | 739046 | CACCTGTT others(62): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(137): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0016others(15): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0002g0025a0001c0001t0002g0026a0001c0001t0002g0090others(130): Show | 140 | 378 | 0.3704 | -69 | c.781 others(86): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNM1_chr9_128198379_128260244 | 128241616 | ACAGATAA others(62): Show |
A | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0184 | 1 | 350 | 0.0029 | -69 | c.155 others(86): Show |
DNM1 | ENSG00000106976.22 | transcript | ENST00000372923.8 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DOCK5_chr8_25179689_25420711 | 25251277 | GGTGAGCT others(62): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG03491.hp1 HG03492.hp1 others(4): Show |
a0001a0002a0007 | a0001c0002a0001c0004a0001c0005others(2): Show | a0001c0002t0008a0001c0002t0018a0001c0004t0003others(3): Show | a0001c0002t0008g0028a0001c0002t0018g0042a0001c0004t0003g0012others(4): Show | 7 | 210 | 0.0333 | -69 | c.127 others(86): Show |
DOCK5 | ENSG00000147459.18 | transcript | ENST00000276440.12 | protein_coding | 2/51 | chr8 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400869 | TCACCACC others(62): Show |
T | intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 256 | 0.0039 | -69 | c.323 others(88): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DOK4_chr16_57466922_57491493 | 57486753 | CCCTTCAC others(62): Show |
C | upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0108 | 1 | 410 | 0.0024 | -69 | c.-69 others(78): Show |
DOK4 | ENSG00000125170.11 | transcript | ENST00000340099.10 | protein_coding | 261 | chr16 | TogoVar | ||||||
DR1_chr1_93340907_93374493 | 93355555 | TATGCTTA others(62): Show |
T | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 360 | 0.0028 | -69 | c.384 others(86): Show |
DR1 | ENSG00000117505.13 | transcript | ENST00000370272.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DVL3_chr3_184150377_184178614 | 184174054 | ATTTCAAA others(62): Show |
A | downstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 400 | 0.0025 | -69 | c.*33 others(80): Show |
DVL3 | ENSG00000161202.20 | transcript | ENST00000313143.9 | protein_coding | 441 | chr3 | TogoVar | ||||||
DYNLT2B_chr3_196286219_196323240 | 196317401 | TAAAGTTA others(62): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0173 | 3 | 330 | 0.0091 | -69 | c.113 others(84): Show |
DYNLT2B | ENSG00000213123.11 | transcript | ENST00000325318.10 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 26027813 | ACATGGAG others(62): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0005 | 1 | 220 | 0.0046 | -69 | c.551 others(86): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
ECSIT_chr19_11500929_11534134 | 11531626 | ACCACACC others(62): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 312 | 0.0032 | -69 | c.-26 others(80): Show |
ECSIT | ENSG00000130159.15 | transcript | ENST00000270517.12 | protein_coding | 2493 | chr19 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3284396 | GTAAGCTG others(62): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG02273.hp2 NA18945.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0035a0001c0001t0001g0082others(5): Show | 8 | 250 | 0.0320 | -69 | c.260 others(88): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
ELOVL5_chr6_53262404_53353950 | 53306230 | AGGGGAGA others(62): Show |
A | intron_variant | MODIFIER | HG02135.hp2 HG02145.hp1 HG02280.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0058others(2): Show | 5 | 320 | 0.0156 | -69 | c.-8- others(86): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54907900 | TTAGATAG others(62): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00642.hp2 others(22): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0178a0001c0001t0001g0202a0001c0001t0003g0145others(22): Show | 25 | 264 | 0.0947 | -69 | c.341 others(88): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 24/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EPHA8_chr1_22558489_22608595 | 22599653 | AGGAAAGG others(62): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG03225.hp2 |
a0001a0006 | a0001c0001a0006c0038 | a0001c0001t0024a0006c0038t0024 | a0001c0001t0024g0162a0006c0038t0024g0161 | 2 | 342 | 0.0059 | -69 | c.238 others(86): Show |
EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ERC2_chr3_55503311_56473467 | 55720120 | CCTTCTTC others(62): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG03195.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0013 | a0001c0001t0001g0052a0001c0002t0013g0074 | 2 | 74 | 0.0270 | -69 | c.271 others(90): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 15/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55720176 | TTCTTCTT others(62): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG03710.hp1 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0059a0001c0001t0003g0068a0001c0001t0005g0053 | 3 | 74 | 0.0405 | -69 | c.271 others(90): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 15/17 | chr3 | TogoVar | ||||||
ERFL_chr19_41902704_41933449 | 41914769 | TGTCTCTC others(62): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02683.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0233a0001c0002t0002g0196 | 2 | 330 | 0.0061 | -69 | c.-13 others(86): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ERGIC3_chr20_35537078_35562634 | 35539263 | ATATATAA others(62): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00642.hp1 HG01074.hp2 others(53): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0001g0058a0001c0001t0001g0117a0001c0001t0004g0061others(34): Show | 56 | 364 | 0.1539 | -69 | c.-28 others(80): Show |
ERGIC3 | ENSG00000125991.21 | transcript | ENST00000348547.7 | protein_coding | 2814 | chr20 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98073476 | ATATATAT others(62): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02922.hp2 HG03209.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0002g0137others(3): Show | 6 | 442 | 0.0136 | -69 | c.58+ others(84): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | chr8 | TogoVar | ||||||
ETS1_chr11_128453765_128592558 | 128584986 | GAAAGGAA others(62): Show |
G | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 | 1 | 286 | 0.0035 | -69 | c.-15 others(86): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
ETS2_chr21_38800929_38829955 | 38815988 | AAGGAAGG others(62): Show |
A | intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0170 | 1 | 426 | 0.0024 | -69 | c.505 others(85): Show |
ETS2 | ENSG00000157557.13 | transcript | ENST00000360938.8 | protein_coding | 5/9 | chr21 | TogoVar | ||||||
ETS2_chr21_38800929_38829955 | 38815989 | AGGAAGGA others(62): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG03130.hp2 HG03516.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0018others(1): Show | a0001c0001t0001g0029a0001c0001t0010g0141a0001c0001t0018g0172others(1): Show | 5 | 426 | 0.0117 | -69 | c.505 others(85): Show |
ETS2 | ENSG00000157557.13 | transcript | ENST00000360938.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
EYS_chr6_63714980_65712226 | 65204918 | CTTTATAT others(62): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0017 | a0017c0013 | a0017c0013t0001 | a0017c0013t0001g0017 | 1 | 24 | 0.0417 | -69 | c.202 others(90): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | ||||||
FAM167A_chr8_11416476_11471753 | 11456979 | GGGATGTA others(62): Show |
G | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 374 | 0.0027 | -69 | c.-39 others(88): Show |
FAM167A | ENSG00000154319.16 | transcript | ENST00000284486.9 | protein_coding | 1/2 | chr8 | TogoVar | ||||||
FAM174B_chr15_92612448_92660775 | 92630786 | ATTACATA others(62): Show |
A | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0021a0001c0001t0030 | a0001c0001t0007g0044a0001c0001t0021g0042a0001c0001t0030g0045 | 3 | 394 | 0.0076 | -69 | c.345 others(84): Show |
FAM174B | ENSG00000185442.13 | transcript | ENST00000327355.6 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
FAT1_chr4_186582794_186728856 | 186610642 | ATAATTTA others(62): Show |
A | intron_variant | MODIFIER | NA18990.hp2 | a0059 | a0059c0067 | a0059c0067t0001 | a0059c0067t0001g0160 | 1 | 338 | 0.0030 | -69 | c.985 others(86): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 14/26 | chr4 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132587370 | AGCTGGAG others(62): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00558.hp2 others(61): Show |
a0000a0001a0004others(12): Show | a0000c0019a0000c0039a0000c0043others(25): Show | a0000c0019t0006a0000c0019t0011a0000c0039t0005others(34): Show | a0000c0019t0006g0098a0000c0019t0006g0127a0000c0019t0011g0313others(61): Show | 64 | 348 | 0.1839 | -69 | c.*35 others(80): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 2183 | chr12 | TogoVar |