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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCDC7_chr10_32441140_32887864 | 32472494 | C | T | stop_gained | HIGH | NA18954.hp2 NA19076.hp2 |
a0011 | a0011c0017 | a0011c0017t0001 | a0011c0017t0001g0326a0011c0017t0001g0327 | 2 | 368 | 0.0054 | 0 | c.691 others(3): Show |
p.Arg others(4): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 8/44 | 1000/4826 | 691/4158 | 231/1385 | chr10 | TogoVar | ||
CCNA2_chr4_121811444_121828883 | 121823415 | C | G | splice_donor_variant others(1): Show |
HIGH | NA19076.hp1 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0053 | 1 | 414 | 0.0024 | 0 | c.213 others(5): Show |
CCNA2 | ENSG00000145386.11 | transcript | ENST00000274026.10 | protein_coding | 1/7 | chr4 | TogoVar | ||||||
CCNQ_chrX_153582925_153604139 | 153596053 | C | CT | frameshift_variant | HIGH | NA19076.hp1 | a0005 | a0005c0003 | a0005c0003t0004 | a0005c0003t0004g0054 | 1 | 302 | 0.0033 | 1 | c.246 others(4): Show |
p.Val others(4): Show |
CCNQ | ENSG00000262919.8 | transcript | ENST00000576892.8 | protein_coding | 2/5 | 312/1253 | 246/747 | 82/248 | chrX | TogoVar | ||
CCNQ_chrX_153582925_153604139 | 153596059 | C | CG | frameshift_variant | HIGH | NA19076.hp1 | a0005 | a0005c0003 | a0005c0003t0004 | a0005c0003t0004g0054 | 1 | 302 | 0.0033 | 1 | c.240 others(4): Show |
p.Gly others(4): Show |
CCNQ | ENSG00000262919.8 | transcript | ENST00000576892.8 | protein_coding | 2/5 | 306/1253 | 240/747 | 80/248 | chrX | TogoVar | ||
CD177_chr19_43348686_43368172 | 43362260 | G | A | stop_gained | HIGH | HG02015.hp1 NA18962.hp2 NA18995.hp2 others(2): Show |
a0010a0035 | a0010c0009a0035c0027 | a0010c0009t0003a0035c0027t0003 | a0010c0009t0003g0004a0010c0009t0003g0295a0010c0009t0003g0301others(1): Show | 5 | 466 | 0.0107 | 0 | c.125 others(4): Show |
p.Trp others(4): Show |
CD177 | ENSG00000204936.10 | transcript | ENST00000618265.5 | protein_coding | 9/9 | 1283/2195 | 1254/1314 | 418/437 | chr19 | TogoVar | ||
CDC40_chr6_110175427_110237232 | 110217724 | TATCTGCT others(48): Show |
T | frameshift_variant | HIGH | NA19076.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0030 | 1 | 330 | 0.0030 | -55 | c.101 others(64): Show |
p.Ile others(5): Show |
CDC40 | ENSG00000168438.15 | transcript | ENST00000307731.2 | protein_coding | 10/15 | 1030/3859 | 1012/1740 | 338/579 | chr6 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071370 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG00642.hp2 HG02145.hp2 NA18960.hp1 others(5): Show |
a0001a0007 | a0001c0068a0007c0113a0007c0115others(5): Show | a0001c0068t0001a0007c0113t0001a0007c0115t0002others(5): Show | a0001c0068t0001g0008a0007c0113t0001g0003a0007c0115t0002g0001others(5): Show | 8 | 416 | 0.0192 | -32 | c.187 others(41): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1898/2381 | 1876/2262 | 626/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071533 | G | GC | frameshift_variant | HIGH | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(179): Show |
a0001a0002a0004others(26): Show | a0001c0019a0001c0020a0001c0054others(112): Show | a0001c0019t0001a0001c0020t0001a0001c0054t0001others(112): Show | a0001c0019t0001g0001a0001c0019t0001g0003a0001c0020t0001g0001others(140): Show | 182 | 416 | 0.4375 | 1 | c.204 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2063/2381 | 2041/2262 | 681/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071567 | G | GC | frameshift_variant | HIGH | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(82): Show |
a0001a0002a0004others(19): Show | a0001c0054a0001c0055a0001c0056others(60): Show | a0001c0054t0001a0001c0055t0001a0001c0056t0001others(60): Show | a0001c0054t0001g0056a0001c0055t0001g0001a0001c0056t0001g0008others(73): Show | 85 | 416 | 0.2043 | 1 | c.207 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2096/2381 | 2074/2262 | 692/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071600 | G | GC | frameshift_variant | HIGH | HG00423.hp2 HG00544.hp2 HG00597.hp2 others(44): Show |
a0001a0002a0004others(11): Show | a0001c0019a0001c0055a0001c0058others(42): Show | a0001c0019t0001a0001c0055t0001a0001c0058t0001others(42): Show | a0001c0019t0001g0001a0001c0019t0001g0003a0001c0055t0001g0001others(44): Show | 47 | 416 | 0.1130 | 1 | c.210 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2129/2381 | 2107/2262 | 703/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEP295_chr11_93656682_93735358 | 93675578 | AAGTAAAA others(15): Show |
A | frameshift_variant | HIGH | NA19076.hp1 | a0014 | a0014c0044 | a0014c0044t0001 | a0014c0044t0001g0081 | 1 | 354 | 0.0028 | -22 | c.538 others(29): Show |
p.Val others(5): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 6/30 | 657/8014 | 538/7806 | 180/2601 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
CHAF1A_chr19_4397640_4448397 | 4409436 | G | GGCCCGAG others(13): Show |
frameshift_variant | HIGH | NA19076.hp2 | a0009 | a0009c0024 | a0009c0024t0002 | a0009c0024t0002g0102 | 1 | 384 | 0.0026 | 20 | c.638 others(27): Show |
p.Lys others(5): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 3/15 | 781/3366 | 658/2871 | 220/956 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
CHRDL2_chr11_74691429_74736426 | 74713457 | C | CG | frameshift_variant | HIGH | HG00558.hp2 HG02027.hp2 NA18972.hp2 others(6): Show |
a0002 | a0002c0010a0002c0011a0002c0012others(3): Show | a0002c0010t0001a0002c0010t0002a0002c0011t0001others(5): Show | a0002c0010t0001g0071a0002c0010t0002g0335a0002c0011t0001g0132others(6): Show | 9 | 392 | 0.0230 | 1 | c.217 others(4): Show |
p.Arg others(4): Show |
CHRDL2 | ENSG00000054938.17 | transcript | ENST00000376332.8 | protein_coding | 3/11 | 755/1908 | 217/1290 | 73/429 | chr11 | TogoVar | ||
CHTF18_chr16_783620_803074 | 794066 | C | CCAGGACC others(3): Show |
frameshift_variant | HIGH | NA19076.hp1 | a0029 | a0029c0076 | a0029c0076t0001 | a0029c0076t0001g0237 | 1 | 428 | 0.0023 | 10 | c.181 others(19): Show |
p.Leu others(5): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 15/22 | 1892/3092 | 1827/2928 | 609/975 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
CLIP3_chr19_36009660_36037873 | 36017389 | TCACTTGA others(19): Show |
T | frameshift_variant | HIGH | NA19076.hp2 | a0000 | a0000c0009 | a0000c0009t0002 | a0000c0009t0002g0091 | 1 | 416 | 0.0024 | -26 | c.148 others(35): Show |
p.Val others(5): Show |
CLIP3 | ENSG00000105270.15 | transcript | ENST00000360535.9 | protein_coding | 12/14 | 1720/3350 | 1487/1644 | 496/547 | chr19 | TogoVar | ||
COG6_chr13_39650662_39757628 | 39679963 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(131): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(123): Show | 134 | 370 | 0.3622 | 1 | c.624 others(6): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COPB1_chr11_14452512_14504811 | 14498987 | T | C | splice_acceptor_variant others(1): Show |
HIGH | NA18964.hp2 NA18966.hp1 NA18989.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0351a0001c0001t0001g0352a0001c0001t0001g0353others(5): Show | 8 | 386 | 0.0207 | 0 | c.-57 others(5): Show |
COPB1 | ENSG00000129083.13 | transcript | ENST00000439561.7 | protein_coding | 1/21 | chr11 | TogoVar | ||||||
CPN2_chr3_194334768_194356328 | 194341178 | G | A | stop_gained | HIGH | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(133): Show |
a0002a0005a0010others(4): Show | a0002c0002a0002c0011a0002c0014others(7): Show | a0002c0002t0003a0002c0002t0005a0002c0002t0007others(17): Show | a0002c0002t0003g0002a0002c0002t0003g0004a0002c0002t0003g0006others(62): Show | 136 | 440 | 0.3091 | 0 | c.152 others(4): Show |
p.Gln others(4): Show |
CPN2 | ENSG00000178772.7 | transcript | ENST00000323830.4 | protein_coding | 2/2 | 1615/3025 | 1525/1638 | 509/545 | chr3 | TogoVar | ||
CR1_chr1_207491157_207646765 | 207542737 | CACATGTG others(18550): Show |
C | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0021a0001c0037others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0039others(270): Show | 276 | 360 | 0.7667 | -18557 | c.223 others(19): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 14/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CRYBB1_chr22_26594278_26623027 | 26616256 | T | A | stop_gained | HIGH | NA19076.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0171 | 1 | 426 | 0.0024 | 0 | c.64A others(2): Show |
p.Lys others(3): Show |
CRYBB1 | ENSG00000100122.7 | transcript | ENST00000647684.1 | protein_coding | 2/6 | 134/1041 | 64/759 | 22/252 | chr22 | TogoVar | ||
CRYBB1_chr22_26594278_26623027 | 26616260 | G | GAAGGGGG others(7): Show |
frameshift_variant | HIGH | NA19076.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0171 | 1 | 426 | 0.0024 | 14 | c.59_ others(19): Show |
p.Asp others(4): Show |
CRYBB1 | ENSG00000100122.7 | transcript | ENST00000647684.1 | protein_coding | 2/6 | 129/1041 | 59/759 | 20/252 | chr22 | TogoVar | ||
CRYBB1_chr22_26594278_26623027 | 26616340 | T | G | splice_acceptor_variant others(1): Show |
HIGH | NA19076.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0171 | 1 | 426 | 0.0024 | 0 | c.-19 others(5): Show |
CRYBB1 | ENSG00000100122.7 | transcript | ENST00000647684.1 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
CTAG1A_chrX_154580133_154591816 | 154585252 | G | GA | frameshift_variant | HIGH | NA19076.hp1 | a0012 | a0012c0007 | a0012c0007t0007 | a0012c0007t0007g0025 | 1 | 293 | 0.0034 | 1 | c.47d others(3): Show |
p.Asp others(4): Show |
CTAG1A | ENSG00000268651.4 | transcript | ENST00000599837.3 | protein_coding | 1/3 | 122/769 | 48/543 | 16/180 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CTAG1A_chrX_154580133_154591816 | 154585263 | A | AG | frameshift_variant | HIGH | NA19076.hp1 | a0012 | a0012c0007 | a0012c0007t0007 | a0012c0007t0007g0025 | 1 | 293 | 0.0034 | 1 | c.59d others(3): Show |
p.Gly others(4): Show |
CTAG1A | ENSG00000268651.4 | transcript | ENST00000599837.3 | protein_coding | 1/3 | 134/769 | 60/543 | 20/180 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CTAG1A_chrX_154580133_154591816 | 154585342 | C | CCG | frameshift_variant | HIGH | NA19076.hp1 | a0012 | a0012c0007 | a0012c0007t0007 | a0012c0007t0007g0025 | 1 | 293 | 0.0034 | 2 | c.136 others(9): Show |
p.Arg others(4): Show |
CTAG1A | ENSG00000268651.4 | transcript | ENST00000599837.3 | protein_coding | 1/3 | 211/769 | 137/543 | 46/180 | chrX | TogoVar | ||
CTAG1A_chrX_154580133_154591816 | 154585352 | G | GGT | frameshift_variant | HIGH | NA19076.hp1 | a0012 | a0012c0007 | a0012c0007t0007 | a0012c0007t0007g0025 | 1 | 293 | 0.0034 | 2 | c.147 others(9): Show |
p.Ala others(4): Show |
CTAG1A | ENSG00000268651.4 | transcript | ENST00000599837.3 | protein_coding | 1/3 | 222/769 | 148/543 | 50/180 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CTAG1A_chrX_154580133_154591816 | 154585377 | A | AG | frameshift_variant | HIGH | NA19076.hp1 | a0012 | a0012c0007 | a0012c0007t0007 | a0012c0007t0007g0025 | 1 | 293 | 0.0034 | 1 | c.173 others(4): Show |
p.Gly others(4): Show |
CTAG1A | ENSG00000268651.4 | transcript | ENST00000599837.3 | protein_coding | 1/3 | 248/769 | 174/543 | 58/180 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CTAG1A_chrX_154580133_154591816 | 154585384 | G | GC | frameshift_variant | HIGH | NA19076.hp1 | a0012 | a0012c0007 | a0012c0007t0007 | a0012c0007t0007g0025 | 1 | 293 | 0.0034 | 1 | c.182 others(4): Show |
p.Arg others(4): Show |
CTAG1A | ENSG00000268651.4 | transcript | ENST00000599837.3 | protein_coding | 1/3 | 257/769 | 183/543 | 61/180 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CTAG1A_chrX_154580133_154591816 | 154585440 | C | CG | frameshift_variant | HIGH | NA19076.hp1 | a0012 | a0012c0007 | a0012c0007t0007 | a0012c0007t0007g0025 | 1 | 293 | 0.0034 | 1 | c.238 others(4): Show |
p.Ala others(4): Show |
CTAG1A | ENSG00000268651.4 | transcript | ENST00000599837.3 | protein_coding | 1/3 | 313/769 | 239/543 | 80/180 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CYLC2_chr9_102990333_103023488 | 103016962 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(409): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(65): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(317): Show | 412 | 448 | 0.9196 | 0 | c.*89 others(6): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 7/7 | chr9 | TogoVar | ||||||
CYP2C18_chr10_94678729_94741190 | 94687805 | T | A | stop_gained | HIGH | HG01884.hp1 HG02258.hp2 HG02630.hp2 others(21): Show |
a0003 | a0003c0003a0003c0007a0003c0010 | a0003c0003t0001a0003c0003t0006a0003c0007t0001others(1): Show | a0003c0003t0001g0048a0003c0003t0001g0236a0003c0003t0006g0014others(13): Show | 24 | 378 | 0.0635 | 0 | c.204 others(3): Show |
p.Tyr others(3): Show |
CYP2C18 | ENSG00000108242.13 | transcript | ENST00000285979.11 | protein_coding | 2/9 | 295/2310 | 204/1473 | 68/490 | chr10 | TogoVar | ||
CYP2C19_chr10_94757681_94860547 | 94780653 | G | A | stop_gained | HIGH | HG03490.hp1 HG03492.hp1 HG03831.hp2 others(14): Show |
a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0002a0003c0004t0006g0003a0003c0004t0006g0030others(10): Show | 17 | 364 | 0.0467 | 0 | c.636 others(3): Show |
p.Trp others(4): Show |
CYP2C19 | ENSG00000165841.11 | transcript | ENST00000371321.9 | protein_coding | 4/9 | 661/4131 | 636/1473 | 212/490 | chr10 | TogoVar | ||
CYP4A22_chr1_47132441_47154727 | 47144551 | TG | T | frameshift_variant | HIGH | HG00280.hp1 HG00408.hp2 HG02080.hp1 others(12): Show |
a0006 | a0006c0007 | a0006c0007t0004 | a0006c0007t0004g0008a0006c0007t0004g0010 | 15 | 440 | 0.0341 | -1 | c.901 others(4): Show |
p.Glu others(5): Show |
CYP4A22 | ENSG00000162365.13 | transcript | ENST00000371891.8 | protein_coding | 8/12 | 946/2535 | 901/1560 | 301/519 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
DAZ4_chrY_24828919_24912040 | 24868531 | CTCTAATT others(7126): Show |
C | exon_loss_variant | HIGH | HG00140.hp1 HG00609.hp1 HG01069.hp1 others(19): Show |
a0002a0003a0005others(5): Show | a0002c0002a0003c0004a0005c0005others(5): Show | a0002c0002t0001a0003c0004t0001a0005c0005t0001others(5): Show | a0002c0002t0001g0009a0002c0002t0001g0012a0002c0002t0001g0025others(19): Show | 22 | 41 | 0.5366 | -7133 | c.142 others(18): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 18/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DAZ4_chrY_24828919_24912040 | 24887215 | AATGGCAG others(4762): Show |
A | exon_loss_variant | HIGH | NA19072.hp1 NA19076.hp1 |
a0005a0011 | a0005c0005a0011c0010 | a0005c0005t0001a0011c0010t0001 | a0005c0005t0001g0001a0011c0010t0001g0038 | 2 | 41 | 0.0488 | -4769 | c.178 others(17): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 23/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DFFA_chr1_10451522_10477529 | 10472433 | A | AC | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(192): Show |
a0002 | a0002c0002a0002c0004a0002c0006others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(57): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0008others(124): Show | 195 | 438 | 0.4452 | 1 | c.25d others(3): Show |
p.Val others(3): Show |
DFFA | ENSG00000160049.12 | transcript | ENST00000377038.8 | protein_coding | 1/6 | 96/6035 | 25/996 | 9/331 | chr1 | TogoVar | ||
DGKK_chrX_50360409_50475825 | 50420422 | TG | T | frameshift_variant | HIGH | NA19076.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0080 | 1 | 248 | 0.0040 | -1 | c.922 others(4): Show |
p.Gln others(5): Show |
DGKK | ENSG00000274588.2 | transcript | ENST00000611977.2 | protein_coding | 4/28 | 1069/7494 | 922/3816 | 308/1271 | chrX | TogoVar | ||
DHDH_chr19_48928699_48949969 | 48939592 | T | TG | frameshift_variant | HIGH | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(129): Show |
a0002a0006a0019others(3): Show | a0002c0002a0002c0005a0002c0027others(7): Show | a0002c0002t0001a0002c0005t0001a0002c0027t0001others(7): Show | a0002c0002t0001g0002a0002c0002t0001g0007a0002c0002t0001g0019others(59): Show | 132 | 436 | 0.3028 | 1 | c.517 others(4): Show |
p.Ala others(5): Show |
DHDH | ENSG00000104808.8 | transcript | ENST00000221403.7 | protein_coding | 4/7 | 541/1064 | 518/1005 | 173/334 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
DOCK11_chrX_118490815_118691147 | 118542941 | C | CG | frameshift_variant | HIGH | NA19076.hp1 | a0009 | a0009c0006 | a0009c0006t0001 | a0009c0006t0001g0038 | 1 | 211 | 0.0047 | 1 | c.236 others(4): Show |
p.Gln others(4): Show |
DOCK11 | ENSG00000147251.16 | transcript | ENST00000276202.9 | protein_coding | 3/53 | 394/6719 | 237/6222 | 79/2073 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
DUSP13_chr10_75089436_75104512 | 75099203 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(161): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(16): Show | 164 | 404 | 0.4059 | -1 | c.234 others(4): Show |
p.Ala others(4): Show |
DUSP13 | ENSG00000079393.22 | transcript | ENST00000478873.7 | protein_coding | 1/4 | 309/1320 | 234/1005 | 78/334 | chr10 | TogoVar | ||
DUSP15_chr20_31856077_31875527 | 31870321 | G | GGGGTATT others(3): Show |
frameshift_variant | HIGH | NA19076.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0051 | 1 | 378 | 0.0027 | 10 | c.16_ others(15): Show |
p.Thr others(3): Show |
DUSP15 | ENSG00000149599.16 | transcript | ENST00000339738.10 | protein_coding | 1/7 | 206/1224 | 16/708 | 6/235 | chr20 | TogoVar | ||
DZANK1_chr20_18378367_18472030 | 18412855 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(210): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0007a0001c0015others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0285a0001c0001t0001g0293a0001c0001t0001g0333others(196): Show | 213 | 374 | 0.5695 | 0 | c.130 others(6): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 12/20 | chr20 | TogoVar | ||||||
EFCAB13_chr17_47318955_47446312 | 47370436 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp2 HG00544.hp1 HG00558.hp1 others(39): Show |
a0003a0007a0009others(1): Show | a0003c0004a0003c0008a0003c0016others(3): Show | a0003c0004t0001a0003c0004t0002a0003c0008t0003others(5): Show | a0003c0004t0001g0140a0003c0004t0002g0109a0003c0004t0002g0214others(38): Show | 42 | 356 | 0.1180 | 0 | c.806 others(5): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 10/24 | chr17 | TogoVar | ||||||
EGF_chr4_109907883_110018766 | 110011233 | G | GC | frameshift_variant | HIGH | HG00423.hp1 HG00609.hp2 HG00621.hp1 others(44): Show |
a0003a0013a0021 | a0003c0003a0013c0015a0021c0031 | a0003c0003t0005a0003c0003t0008a0003c0003t0018others(4): Show | a0003c0003t0005g0002a0003c0003t0005g0003a0003c0003t0005g0014others(43): Show | 47 | 388 | 0.1211 | 1 | c.340 others(5): Show |
p.Gln others(6): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 24/24 | 3860/6388 | 3407/3624 | 1136/1207 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
ELF4_chrX_130058955_130115497 | 130072361 | TGG | T | frameshift_variant | HIGH | NA19076.hp1 | a0007 | a0007c0003 | a0007c0003t0048 | a0007c0003t0048g0272 | 1 | 274 | 0.0037 | -2 | c.395 others(9): Show |
p.Pro others(5): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 5/9 | 778/5140 | 395/1992 | 132/663 | chrX | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143863761 | G | GGGGCGGC others(6): Show |
frameshift_variant | HIGH | NA19076.hp2 | a0266 | a0266c0098 | a0266c0098t0002 | a0266c0098t0002g0090 | 1 | 424 | 0.0024 | 13 | c.949 others(22): Show |
p.Arg others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9567/16005 | 9492/15267 | 3164/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143865788 | AGGGTGGC others(21): Show |
A | frameshift_variant | HIGH | NA19076.hp1 | a0226 | a0226c0326 | a0226c0326t0005 | a0226c0326t0005g0050 | 1 | 424 | 0.0024 | -28 | c.743 others(37): Show |
p.Leu others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 7540/16005 | 7438/15267 | 2480/5088 | chr8 | TogoVar | ||
ERV3-1_chr7_64985356_65011687 | 64992360 | G | A | stop_gained | HIGH | HG00140.hp1 HG00408.hp2 HG00558.hp2 others(60): Show |
a0003a0013 | a0003c0003a0013c0019 | a0003c0003t0001a0013c0019t0001 | a0003c0003t0001g0003a0003c0003t0001g0015a0003c0003t0001g0021others(12): Show | 63 | 458 | 0.1376 | 0 | c.667 others(3): Show |
p.Arg others(4): Show |
ERV3-1 | ENSG00000213462.5 | transcript | ENST00000394323.3 | protein_coding | 2/2 | 1202/3206 | 667/1815 | 223/604 | chr7 | TogoVar | ||
EXO5_chr1_40503767_40521038 | 40515335 | CTG | C | frameshift_variant | HIGH | HG00558.hp1 HG00597.hp1 HG00609.hp1 others(15): Show |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0002a0004c0004t0002g0048a0004c0004t0002g0050 | 18 | 406 | 0.0443 | -2 | c.794 others(9): Show |
p.Val others(5): Show |
EXO5 | ENSG00000164002.12 | transcript | ENST00000415550.6 | protein_coding | 4/4 | 1199/1899 | 794/1122 | 265/373 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
F8A2_chrX_155377095_155388801 | 155382366 | CG | C | frameshift_variant | HIGH | NA19076.hp1 | a0010 | a0010c0006 | a0010c0006t0008 | a0010c0006t0008g0000 | 1 | 267 | 0.0038 | -1 | c.256 others(4): Show |
p.Glu others(4): Show |
F8A2 | ENSG00000288709.1 | transcript | ENST00000369505.5 | protein_coding | 1/1 | 276/1707 | 256/1116 | 86/371 | INFO_REALIGN_3_PRIME | chrX | TogoVar |