| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CFAP52_chr17_9571642_9648447 | 9631030 | G | GAAAGAAA others(231): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0101 | 1 | 316 | 0.0032 | 238 | c.117 others(257): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| CFAP61_chr20_20047532_20365698 | 20356858 | C | CTGAGGGG others(231): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0021 | 1 | 236 | 0.0042 | 238 | c.351 others(257): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CFAP61_chr20_20047532_20365698 | 20357497 | G | GGGAGGTG others(231): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 236 | 0.0042 | 238 | c.351 others(257): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CFAP61_chr20_20047532_20365698 | 20357593 | C | CTGAGGAG others(231): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0099 | 1 | 236 | 0.0042 | 238 | c.351 others(257): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CFAP61_chr20_20047532_20365698 | 20357800 | G | GAGGTGGT others(231): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03098.hp2 |
a0001a0018 | a0001c0003a0018c0036 | a0001c0003t0007a0018c0036t0003 | a0001c0003t0007g0016a0018c0036t0003g0094 | 2 | 236 | 0.0085 | 238 | c.351 others(257): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CHM_chrX_85856180_86052558 | 85911212 | T | TGAATATA others(231): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0080 | 1 | 245 | 0.0041 | 238 | c.124 others(253): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar | ||||||
| CHST11_chr12_104451948_104767014 | 104544134 | A | AAGAAAGA others(231): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0061 | 1 | 240 | 0.0042 | 238 | c.119 others(257): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CIP2A_chr3_108544864_108594438 | 108575519 | C | CATATATA others(231): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0156 | 1 | 372 | 0.0027 | 238 | c.894 others(253): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | ||||||
| CIP2A_chr3_108544864_108594438 | 108575529 | C | CGTATATA others(231): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0042 | 1 | 372 | 0.0027 | 238 | c.894 others(253): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | ||||||
| CIP2A_chr3_108544864_108594438 | 108575612 | A | ATACATGT others(231): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0316 | 1 | 372 | 0.0027 | 238 | c.894 others(253): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | ||||||
| CIP2A_chr3_108544864_108594438 | 108575820 | A | ATGTGTAT others(231): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0320 | 1 | 372 | 0.0027 | 238 | c.894 others(253): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | ||||||
| CLPTM1L_chr5_1312752_1350099 | 1333076 | C | CTGTATAC others(231): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0345 | 1 | 370 | 0.0027 | 238 | c.892 others(255): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
| CNTNAP5_chr2_124020287_124926219 | 124812034 | A | ATATATAA others(231): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 64 | 0.0156 | 238 | c.321 others(259): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| COL4A2_chr13_110302284_110518209 | 110481128 | A | AGTTCTGT others(231): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0013 | a0002c0013t0006 | a0002c0013t0006g0118 | 1 | 372 | 0.0027 | 238 | c.275 others(255): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| COL4A2_chr13_110302284_110518209 | 110481920 | G | GTTGCTGG others(231): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0021 | a0021c0053 | a0021c0053t0007 | a0021c0053t0007g0241 | 1 | 372 | 0.0027 | 238 | c.275 others(255): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| COMMD10_chr5_116080025_116298287 | 116158170 | C | CCTCCCTC others(231): Show |
intron_variant | MODIFIER | NA18977.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271a0001c0001t0001g0273 | 2 | 350 | 0.0057 | 238 | c.510 others(257): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| COMMD10_chr5_116080025_116298287 | 116158291 | C | CTCCCTCT others(231): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 350 | 0.0029 | 238 | c.510 others(257): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | chr5 | TogoVar | ||||||
| COMMD10_chr5_116080025_116298287 | 116158291 | C | CTCCCTCT others(231): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 350 | 0.0029 | 238 | c.510 others(257): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | chr5 | TogoVar | ||||||
| CPNE7_chr16_89570758_89602246 | 89587785 | C | CCCGTGTC others(231): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 348 | 0.0029 | 238 | c.927 others(253): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CREG1_chr1_167536013_167558762 | 167536857 | T | TAAAATTT others(231): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 418 | 0.0024 | 238 | c.*54 others(249): Show |
CREG1 | ENSG00000143162.9 | transcript | ENST00000370509.5 | protein_coding | 4155 | chr1 | TogoVar | ||||||
| CRKL_chr22_20912407_20958747 | 20955490 | A | ATATATAT others(231): Show |
downstream_gene_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0293 | 1 | 370 | 0.0027 | 238 | c.*56 others(249): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 1744 | chr22 | TogoVar | ||||||
| CRKL_chr22_20912407_20958747 | 20955490 | A | ATATATAT others(231): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 370 | 0.0027 | 238 | c.*56 others(249): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 1744 | chr22 | TogoVar | ||||||
| CSF2RA_chrX_1263814_1314935 | 1307640 | C | CTTCGACT others(231): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02109.hp2 HG02559.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0005a0001c0002t0009a0002c0004t0005 | a0001c0002t0005g0123a0001c0002t0009g0011a0002c0004t0005g0125others(2): Show | 5 | 159 | 0.0315 | 238 | c.112 others(257): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CSF2RA_chrX_1263814_1314935 | 1307640 | C | CTTCGACT others(231): Show |
intron_variant | MODIFIER | HG03453.hp2 NA18906.hp1 NA19030.hp1 |
a0001a0002 | a0001c0002a0001c0007a0002c0003 | a0001c0002t0005a0001c0007t0001a0002c0003t0001 | a0001c0002t0005g0134a0001c0007t0001g0106a0002c0003t0001g0003 | 3 | 159 | 0.0189 | 238 | c.112 others(257): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CSMD1_chr8_2930361_4999914 | 3448345 | G | GAAGGAAG others(231): Show |
intron_variant | MODIFIER | NA18971.hp2 NA18983.hp1 NA18995.hp2 |
a0001a0023a0039 | a0001c0061a0023c0095a0039c0009 | a0001c0061t0001a0023c0095t0002a0039c0009t0001 | a0001c0061t0001g0021a0023c0095t0002g0124a0039c0009t0001g0002 | 3 | 126 | 0.0238 | 238 | c.156 others(259): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
| CUL4A_chr13_113204613_113272108 | 113232265 | C | CGCCCACC others(231): Show |
intron_variant | MODIFIER | HG00597.hp1 NA18966.hp1 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319a0001c0001t0001g0320a0001c0001t0001g0321 | 3 | 396 | 0.0076 | 238 | c.513 others(253): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| CXorf51A_chrX_146809106_146819744 | 146812146 | C | CATGTGTA others(231): Show |
downstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 264 | 0.0038 | 238 | c.*20 others(249): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1959 | chrX | TogoVar | ||||||
| CXorf51B_chrX_146804771_146815411 | 146812146 | C | CATGTGTA others(231): Show |
downstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 272 | 0.0037 | 238 | c.*18 others(249): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1736 | chrX | TogoVar | ||||||
| CYP20A1_chr2_203234018_203311026 | 203251815 | A | ATATATAT others(231): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0207 | 1 | 334 | 0.0030 | 238 | c.290 others(253): Show |
CYP20A1 | ENSG00000119004.17 | transcript | ENST00000356079.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CYP20A1_chr2_203234018_203311026 | 203251815 | A | ATATATAT others(231): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0274 | 1 | 334 | 0.0030 | 238 | c.290 others(253): Show |
CYP20A1 | ENSG00000119004.17 | transcript | ENST00000356079.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CYP20A1_chr2_203234018_203311026 | 203251815 | A | ATATATGT others(231): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0002 | a0002c0002 | a0002c0002t0147 | a0002c0002t0147g0249 | 1 | 334 | 0.0030 | 238 | c.290 others(253): Show |
CYP20A1 | ENSG00000119004.17 | transcript | ENST00000356079.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DCC_chr18_52335197_53540899 | 53429030 | A | AATAAATT others(231): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0097 | 1 | 114 | 0.0088 | 238 | c.316 others(257): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| DGKB_chr7_14140049_14907751 | 14212342 | A | ATTTTACT others(231): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 148 | 0.0068 | 238 | c.212 others(259): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
| DGKD_chr2_233349494_233477098 | 233463490 | G | GCACGCAT others(231): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0232 | 1 | 336 | 0.0030 | 238 | c.318 others(255): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DGKD_chr2_233349494_233477098 | 233463507 | G | GCACGCAT others(231): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02145.hp1 HG02602.hp2 |
a0001a0005 | a0001c0002a0005c0006 | a0001c0002t0004a0001c0002t0025a0005c0006t0004 | a0001c0002t0004g0027a0001c0002t0025g0174a0005c0006t0004g0026 | 3 | 336 | 0.0089 | 238 | c.318 others(255): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DGKD_chr2_233349494_233477098 | 233463515 | G | GTCCTCAC others(231): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0138 | 1 | 336 | 0.0030 | 238 | c.318 others(255): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DGKD_chr2_233349494_233477098 | 233463606 | A | ACTCCACG others(231): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0092 | 1 | 336 | 0.0030 | 238 | c.318 others(255): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DGLUCY_chr14_91109073_91230632 | 91205793 | T | TTCTTCTT others(231): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0013 | a0013c0014 | a0013c0014t0001 | a0013c0014t0001g0164 | 1 | 216 | 0.0046 | 238 | c.156 others(255): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| DMD_chrX_31114222_33216549 | 32554924 | A | AGAAAGAA others(231): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0060 | 1 | 126 | 0.0079 | 238 | c.199 others(257): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 16/78 | chrX | TogoVar | ||||||
| DNAH10_chr12_123757301_123940714 | 123912126 | C | CGGGGGGG others(231): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0053 | 1 | 170 | 0.0059 | 238 | c.101 others(257): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| DNAH17_chr17_78418697_78582396 | 78541095 | T | TGGGTGAG others(231): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0027 | 1 | 252 | 0.0040 | 238 | c.253 others(257): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | ||||||
| DNAI7_chr12_25103289_25200160 | 25106528 | T | TCAGACTC others(231): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(134): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(1): Show | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0033others(133): Show | 137 | 336 | 0.4077 | 238 | c.*20 others(249): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 1760 | chr12 | TogoVar | ||||||
| DNAI7_chr12_25103289_25200160 | 25106550 | G | GTACAGTA others(231): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG01099.hp2 HG01243.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0005t0001a0002c0002t0001 | a0001c0001t0001g0029a0001c0001t0001g0033a0001c0001t0001g0049others(19): Show | 22 | 336 | 0.0655 | 238 | c.*19 others(249): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 1738 | chr12 | TogoVar | ||||||
| DNAI7_chr12_25103289_25200160 | 25174371 | G | GATATATA others(231): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229a0001c0001t0001g0231 | 2 | 336 | 0.0060 | 238 | c.22- others(255): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
| DNAI7_chr12_25103289_25200160 | 25174371 | G | GATATATA others(231): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 336 | 0.0030 | 238 | c.22- others(255): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
| DOCK1_chr10_126900428_127457516 | 126947374 | G | GTGGTGGT others(231): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0068 | 1 | 136 | 0.0074 | 238 | c.47- others(255): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| EFCAB6_chr22_43523778_43817305 | 43784556 | T | TACACATA others(231): Show |
intron_variant | MODIFIER | NA18999.hp1 NA19009.hp1 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203a0001c0001t0001g0204a0001c0001t0001g0205 | 3 | 290 | 0.0103 | 238 | c.-7- others(253): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 2/31 | chr22 | TogoVar | ||||||
| ENTR1_chr9_136396922_136415614 | 136403298 | A | AGGGAGCA others(231): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0219 | 1 | 412 | 0.0024 | 238 | c.120 others(255): Show |
ENTR1 | ENSG00000165689.17 | transcript | ENST00000357365.8 | protein_coding | 9/9 | chr9 | TogoVar | ||||||
| EPHB1_chr3_134790260_135265467 | 135192301 | A | AAAAACAA others(231): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 134 | 0.0075 | 238 | c.188 others(255): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ESPNL_chr2_238095340_238138287 | 238098609 | C | CCGCCCAC others(231): Show |
upstream_gene_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0003 | 1 | 408 | 0.0025 | 238 | c.-18 others(249): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 1730 | chr2 | TogoVar |