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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||||
CSNKA2IP_chr3_88333456_88472594 | 88467516 | G | A | stop_gained | HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(240): Show |
a0001a0005a0007others(8): Show | a0001c0001a0001c0004a0001c0012others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0049others(237): Show | 243 | 386 | 0.6295 | 0 | c.215 others(4): Show |
p.Trp others(4): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 2/2 | 2617/2695 | 2159/2205 | 720/734 | chr3 | 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 | ||
CYP2F1_chr19_41109432_41133381 | 41116202 | G | GC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(111): Show |
a0002a0013 | a0002c0002a0002c0003a0002c0005others(11): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0011others(17): Show | a0002c0002t0001g0063a0002c0002t0002g0002a0002c0002t0002g0003others(101): Show | 114 | 374 | 0.3048 | 1 | c.15d others(3): Show |
p.Thr others(3): Show |
CYP2F1 | ENSG00000197446.9 | transcript | ENST00000331105.7 | protein_coding | 2/10 | 88/1847 | 16/1476 | 6/491 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
CYP3A43_chr7_99823013_99871093 | 99863766 | AAAAATTA others(2166): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | HG01109.hp2 HG01243.hp1 HG01884.hp2 others(25): Show |
a0002a0003a0007 | a0002c0010a0002c0011a0002c0014others(3): Show | a0002c0010t0001a0002c0011t0001a0002c0014t0001others(3): Show | a0002c0010t0001g0035a0002c0010t0001g0180a0002c0011t0001g0036others(13): Show | 28 | 326 | 0.0859 | -2173 | c.141 others(12): Show |
p.Ile others(13): Show |
CYP3A43 | ENSG00000021461.18 | transcript | ENST00000354829.7 | protein_coding | 13/13 | 1417/1512 | 473/503 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
DALRD3_chr3_49010488_49023580 | 49017227 | C | T | splice_donor_variant others(1): Show |
HIGH | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 258 | 0.0039 | 0 | c.927 others(5): Show |
DALRD3 | ENSG00000178149.17 | transcript | ENST00000341949.9 | protein_coding | 5/11 | chr3 | TogoVar | ||||||
DCANP1_chr5_135439214_135452348 | 135446760 | T | A | stop_gained | HIGH | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(265): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0003a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(28): Show | 268 | 456 | 0.5877 | 0 | c.349 others(3): Show |
p.Arg others(4): Show |
DCANP1 | ENSG00000251380.3 | transcript | ENST00000503143.3 | protein_coding | 1/1 | 589/3135 | 349/735 | 117/244 | chr5 | TogoVar | ||
DDX49_chr19_18914715_18933630 | 18928221 | C | T | stop_gained | HIGH | HG01884.hp2 HG01891.hp1 HG02109.hp2 others(3): Show |
a0004 | a0004c0007a0004c0010 | a0004c0007t0002a0004c0010t0001a0004c0010t0002 | a0004c0007t0002g0042a0004c0007t0002g0051a0004c0007t0002g0109others(2): Show | 6 | 398 | 0.0151 | 0 | c.135 others(4): Show |
p.Arg others(4): Show |
DDX49 | ENSG00000105671.12 | transcript | ENST00000247003.9 | protein_coding | 13/13 | 1384/1793 | 1357/1452 | 453/483 | chr19 | TogoVar | ||
DEFB126_chr20_137590_150751 | 145514 | GCAAA | G | frameshift_variant | HIGH | HG00323.hp1 HG00642.hp2 HG00673.hp1 others(59): Show |
a0002 | a0002c0003a0002c0006a0002c0009 | a0002c0003t0001a0002c0006t0001a0002c0009t0001 | a0002c0003t0001g0004a0002c0003t0001g0009a0002c0003t0001g0012others(5): Show | 62 | 460 | 0.1348 | -4 | c.163 others(11): Show |
p.Gln others(4): Show |
DEFB126 | ENSG00000125788.6 | transcript | ENST00000382398.4 | protein_coding | 2/2 | 202/434 | 163/336 | 55/111 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
DEFB126_chr20_137590_150751 | 145669 | ACC | A | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(230): Show |
a0000a0002 | a0000c0002a0000c0004a0002c0003others(2): Show | a0000c0002t0001a0000c0004t0001a0002c0003t0001others(2): Show | a0000c0002t0001g0001a0000c0002t0001g0002a0000c0002t0001g0003others(16): Show | 233 | 460 | 0.5065 | -2 | c.317 others(9): Show |
p.Pro others(5): Show |
DEFB126 | ENSG00000125788.6 | transcript | ENST00000382398.4 | protein_coding | 2/2 | 356/434 | 317/336 | 106/111 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
DFFA_chr1_10451522_10477529 | 10463536 | G | A | stop_gained | HIGH | HG01884.hp2 | a0006 | a0006c0017 | a0006c0017t0005 | a0006c0017t0005g0176 | 1 | 438 | 0.0023 | 0 | c.526 others(3): Show |
p.Gln others(4): Show |
DFFA | ENSG00000160049.12 | transcript | ENST00000377038.8 | protein_coding | 4/6 | 597/6035 | 526/996 | 176/331 | chr1 | TogoVar | ||
DGKH_chr13_42043648_42247896 | 42159244 | C | CTTTTTTT others(23): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG01256.hp2 HG01258.hp2 HG01884.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016a0001c0001t0103 | a0001c0001t0001g0234a0001c0001t0016g0002a0001c0001t0016g0037others(1): Show | 4 | 316 | 0.0127 | 30 | c.623 others(41): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21543345 | G | T | stop_gained | HIGH | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(104): Show |
a0008a0009a0016others(81): Show | a0008c0214a0008c0262a0008c0266others(98): Show | a0008c0214t0006a0008c0262t0001a0008c0266t0005others(99): Show | a0008c0214t0006g0175a0008c0262t0001g0139a0008c0266t0005g0137others(104): Show | 107 | 298 | 0.3591 | 0 | c.100 others(3): Show |
p.Glu others(3): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 1/82 | 307/14343 | 100/13551 | 34/4516 | chr7 | TogoVar | ||
DNHD1_chr11_6492280_6577020 | 6563801 | C | T | stop_gained | HIGH | HG01243.hp2 HG01884.hp2 HG02965.hp2 |
a0046a0056 | a0046c0037a0056c0058 | a0046c0037t0001a0056c0058t0001 | a0046c0037t0001g0089a0046c0037t0001g0090a0056c0058t0001g0206 | 3 | 342 | 0.0088 | 0 | c.996 others(4): Show |
p.Arg others(5): Show |
DNHD1 | ENSG00000179532.13 | transcript | ENST00000254579.11 | protein_coding | 31/43 | 10541/14876 | 9961/14262 | 3321/4753 | chr11 | TogoVar | ||
DPPA4_chr3_109321144_109342546 | 109337516 | A | G | start_lost | HIGH | HG01081.hp1 HG01175.hp2 HG01884.hp2 others(22): Show |
a0003a0005 | a0003c0004a0003c0006a0003c0010others(1): Show | a0003c0004t0002a0003c0004t0004a0003c0006t0002others(2): Show | a0003c0004t0002g0018a0003c0004t0002g0026a0003c0004t0002g0048others(17): Show | 25 | 416 | 0.0601 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
DPPA4 | ENSG00000121570.13 | transcript | ENST00000335658.7 | protein_coding | 1/7 | 31/2788 | 2/915 | 1/304 | chr3 | TogoVar | ||
DSP_chr6_7536671_7591714 | 7541915 | C | CA | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(109): Show |
a0001a0002a0003others(12): Show | a0001c0007a0001c0011a0001c0014others(22): Show | a0001c0007t0001a0001c0011t0001a0001c0014t0001others(24): Show | a0001c0007t0001g0046a0001c0007t0001g0049a0001c0007t0001g0162others(104): Show | 112 | 396 | 0.2828 | 1 | c.1du others(2): Show |
p.Met others(3): Show |
DSP | ENSG00000096696.16 | transcript | ENST00000379802.8 | protein_coding | 1/24 | 247/9697 | 2/8616 | 1/2871 | INFO_REALIGN_3_PRIME | chr6 | 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 | ||||||
DZANK1_chr20_18378367_18472030 | 18465378 | C | A | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG01106.hp1 HG01167.hp2 others(27): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0006a0001c0007others(6): Show | a0001c0001t0002a0001c0006t0001a0001c0007t0004others(6): Show | a0001c0001t0002g0026a0001c0001t0002g0261a0001c0001t0002g0334others(23): Show | 30 | 374 | 0.0802 | 0 | c.-19 others(5): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 1/20 | chr20 | TogoVar | ||||||
EBLN2_chr3_73056659_73068337 | 73062330 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00423.hp2 HG00597.hp1 others(111): Show |
a0002a0005a0006 | a0002c0002a0002c0009a0005c0006others(1): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0009others(8): Show | a0002c0002t0002g0000a0002c0002t0003g0000a0002c0002t0009g0000others(8): Show | 114 | 428 | 0.2664 | 1 | c.250 others(4): Show |
p.Arg others(4): Show |
EBLN2 | ENSG00000255423.1 | transcript | ENST00000533473.1 | protein_coding | 1/1 | 674/1679 | 251/819 | 84/272 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
ECD_chr10_73128668_73173008 | 73163951 | CTA | C | splice_acceptor_variant others(2): Show |
HIGH | HG01074.hp1 HG01346.hp2 HG01884.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0014a0002c0002t0003g0041a0002c0002t0003g0042others(5): Show | 9 | 272 | 0.0331 | -2 | c.-13 others(13): Show |
ECD | ENSG00000122882.11 | transcript | ENST00000372979.9 | protein_coding | 1/13 | chr10 | TogoVar | ||||||
ECT2L_chr6_138791087_138909070 | 138876471 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG01884.hp2 HG02109.hp1 HG02257.hp2 others(4): Show |
a0004a0005 | a0004c0006a0005c0007a0005c0024 | a0004c0006t0015a0005c0007t0001a0005c0024t0005 | a0004c0006t0015g0213a0005c0007t0001g0300a0005c0007t0001g0301others(4): Show | 7 | 326 | 0.0215 | 0 | c.157 others(6): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 13/21 | chr6 | TogoVar | ||||||
EFCAB5_chr17_29936634_30113452 | 29941799 | G | A | start_lost | HIGH | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(20): Show |
a0003 | a0003c0003a0003c0006a0003c0013others(1): Show | a0003c0003t0002a0003c0006t0002a0003c0013t0002others(1): Show | a0003c0003t0002g0132a0003c0003t0002g0133a0003c0003t0002g0134others(20): Show | 23 | 248 | 0.0927 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 1/23 | 166/5103 | 3/4512 | 1/1503 | chr17 | TogoVar | ||
EPB41L4A_chr5_112157619_112424277 | 112165119 | C | CTAAAA | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(219): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0021others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(82): Show | a0001c0001t0001g0086a0001c0001t0001g0100a0001c0001t0001g0103others(217): Show | 222 | 228 | 0.9737 | 5 | c.193 others(18): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 22/22 | chr5 | TogoVar | ||||||
ESYT3_chr3_138429616_138484925 | 138451869 | G | GCCAGGGC others(173): Show |
stop_gained others(1): Show |
HIGH | HG01884.hp1 HG02451.hp1 HG02486.hp2 others(9): Show |
a0001a0002a0003 | a0001c0004a0001c0005a0002c0002others(1): Show | a0001c0004t0003a0001c0005t0001a0002c0002t0001others(1): Show | a0001c0004t0003g0102a0001c0005t0001g0125a0002c0002t0001g0041others(5): Show | 12 | 338 | 0.0355 | 180 | c.328 others(191): Show |
p.Ile others(193): Show |
ESYT3 | ENSG00000158220.14 | transcript | ENST00000389567.9 | protein_coding | 2/23 | 516/5915 | 333/2661 | 111/886 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
EXD3_chr9_137301896_137428162 | 137307024 | G | A | stop_gained | HIGH | HG01884.hp2 | a0019 | a0019c0019 | a0019c0019t0001 | a0019c0019t0001g0022 | 1 | 82 | 0.0122 | 0 | c.255 others(4): Show |
p.Arg others(4): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 22/22 | 2653/2781 | 2557/2631 | 853/876 | chr9 | TogoVar | ||
FAM166A_chr9_137238599_137252751 | 137245305 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(415): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0005others(22): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(68): Show | 418 | 418 | 1.0000 | 0 | c.522 others(5): Show |
FAM166A | ENSG00000188163.8 | transcript | ENST00000344774.6 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
FAM86B1_chr8_12177106_12199082 | 12186421 | G | A | stop_gained | HIGH | HG01884.hp1 HG02109.hp2 HG02486.hp2 others(7): Show |
a0005a0011a0014others(1): Show | a0005c0007a0005c0012a0011c0013others(2): Show | a0005c0007t0004a0005c0007t0012a0005c0012t0004others(5): Show | a0005c0007t0004g0025a0005c0007t0004g0028a0005c0007t0004g0029others(7): Show | 10 | 176 | 0.0568 | 0 | c.571 others(3): Show |
p.Gln others(4): Show |
FAM86B1 | ENSG00000186523.15 | transcript | ENST00000448228.7 | protein_coding | 5/7 | 583/2403 | 571/891 | 191/296 | chr8 | TogoVar | ||
FAM86B2_chr8_12419421_12441400 | 12428702 | G | A | stop_gained | HIGH | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
a0006a0008a0011 | a0006c0006a0006c0012a0008c0008others(1): Show | a0006c0006t0008a0006c0012t0011a0008c0008t0012others(2): Show | a0006c0006t0008g0001a0006c0012t0011g0005a0008c0008t0012g0009others(2): Show | 6 | 50 | 0.1200 | 0 | c.673 others(3): Show |
p.Gln others(4): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/8 | 730/2518 | 673/993 | 225/330 | chr8 | TogoVar | ||
FAM90A19_chr8_7748682_7761692 | 7755067 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(70): Show |
a0001a0003a0005others(25): Show | a0001c0001a0001c0033a0003c0003others(26): Show | a0001c0001t0000a0001c0033t0000a0003c0003t0000others(26): Show | a0001c0001t0000g0002a0001c0001t0000g0004a0001c0001t0000g0005others(48): Show | 73 | 116 | 0.6293 | 0 | c.432 others(5): Show |
FAM90A19 | ENSG00000285657.1 | transcript | ENST00000647903.1 | protein_coding | 3/3 | chr8 | TogoVar | ||||||
FANCM_chr14_45130930_45205890 | 45185207 | TCTTA | T | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(111): Show |
a0002a0003a0004others(16): Show | a0002c0003a0002c0006a0002c0007others(22): Show | a0002c0003t0001a0002c0003t0002a0002c0006t0002others(24): Show | a0002c0003t0001g0167a0002c0003t0001g0169a0002c0003t0001g0170others(107): Show | 114 | 238 | 0.4790 | -4 | c.451 others(17): Show |
FANCM | ENSG00000187790.12 | transcript | ENST00000267430.10 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FER_chr5_108742897_109201841 | 108867763 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG01884.hp2 HG02559.hp2 HG02572.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0002a0001c0001t0009a0001c0004t0006others(2): Show | a0001c0001t0002g0115a0001c0001t0009g0082a0001c0004t0006g0078others(4): Show | 7 | 138 | 0.0507 | 1 | c.482 others(6): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FLG2_chr1_152343735_152365006 | 152350656 | G | T | stop_gained | HIGH | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(152): Show |
a0002a0004a0006others(10): Show | a0002c0002a0002c0045a0004c0004others(13): Show | a0002c0002t0002a0002c0002t0011a0002c0002t0018others(16): Show | a0002c0002t0002g0002a0002c0002t0002g0074a0002c0002t0002g0076others(20): Show | 155 | 422 | 0.3673 | 0 | c.713 others(4): Show |
p.Ser others(5): Show |
FLG2 | ENSG00000143520.6 | transcript | ENST00000388718.5 | protein_coding | 3/3 | 7203/9124 | 7130/7176 | 2377/2391 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304352 | G | A | stop_gained | HIGH | HG01243.hp1 HG01433.hp2 HG01884.hp2 others(55): Show |
a0006a0010a0012others(22): Show | a0006c0006a0006c0136a0010c0010others(25): Show | a0006c0006t0001a0006c0136t0001a0010c0010t0001others(25): Show | a0006c0006t0001g0003a0006c0136t0001g0124a0010c0010t0001g0026others(32): Show | 58 | 426 | 0.1362 | 0 | c.105 others(5): Show |
p.Gln others(5): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10606/12793 | 10534/12186 | 3512/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304887 | C | T | stop_gained | HIGH | HG01433.hp2 HG01884.hp2 HG02109.hp1 others(34): Show |
a0010a0012a0019others(16): Show | a0010c0010a0012c0012a0012c0063others(18): Show | a0010c0010t0001a0012c0012t0002a0012c0063t0002others(18): Show | a0010c0010t0001g0026a0010c0010t0001g0063a0010c0010t0001g0138others(25): Show | 37 | 426 | 0.0869 | 0 | c.999 others(4): Show |
p.Trp others(5): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10071/12793 | 9999/12186 | 3333/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152305571 | G | C | stop_gained | HIGH | HG01433.hp2 HG01884.hp2 HG02109.hp1 others(34): Show |
a0010a0012a0019others(16): Show | a0010c0010a0012c0012a0012c0063others(18): Show | a0010c0010t0001a0012c0012t0002a0012c0063t0002others(18): Show | a0010c0010t0001g0026a0010c0010t0001g0063a0010c0010t0001g0138others(25): Show | 37 | 426 | 0.0869 | 0 | c.931 others(4): Show |
p.Tyr others(5): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 9387/12793 | 9315/12186 | 3105/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152305861 | G | A | stop_gained | HIGH | HG01433.hp2 HG01884.hp2 HG02109.hp1 others(34): Show |
a0010a0012a0019others(16): Show | a0010c0010a0012c0012a0012c0063others(18): Show | a0010c0010t0001a0012c0012t0002a0012c0063t0002others(18): Show | a0010c0010t0001g0026a0010c0010t0001g0063a0010c0010t0001g0138others(25): Show | 37 | 426 | 0.0869 | 0 | c.902 others(4): Show |
p.Arg others(5): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 9097/12793 | 9025/12186 | 3009/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152305911 | G | C | stop_gained | HIGH | HG01884.hp2 | a0068 | a0068c0130 | a0068c0130t0001 | a0068c0130t0001g0153 | 1 | 426 | 0.0024 | 0 | c.897 others(4): Show |
p.Ser others(5): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 9047/12793 | 8975/12186 | 2992/4061 | chr1 | TogoVar | ||
FMNL2_chr2_152330174_152654826 | 152619552 | G | GCCAC | frameshift_variant | HIGH | HG00438.hp1 HG00438.hp2 HG00735.hp1 others(72): Show |
a0002a0004a0008 | a0002c0002a0002c0004a0002c0007others(13): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(32): Show | a0002c0002t0001g0002a0002c0002t0001g0022a0002c0002t0001g0031others(72): Show | 75 | 200 | 0.3750 | 4 | c.167 others(13): Show |
p.Pro others(5): Show |
FMNL2 | ENSG00000157827.20 | transcript | ENST00000288670.14 | protein_coding | 15/26 | 2104/5630 | 1674/3279 | 558/1092 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
FMO2_chr1_171180300_171217686 | 171196663 | TG | T | frameshift_variant | HIGH | HG01123.hp1 HG01192.hp1 HG01243.hp1 others(21): Show |
a0006 | a0006c0006 | a0006c0006t0006a0006c0006t0011a0006c0006t0016 | a0006c0006t0006g0007a0006c0006t0006g0036a0006c0006t0006g0112others(13): Show | 24 | 366 | 0.0656 | -1 | c.337 others(4): Show |
p.Val others(5): Show |
FMO2 | ENSG00000094963.14 | transcript | ENST00000209929.10 | protein_coding | 4/9 | 403/5215 | 337/1608 | 113/535 | chr1 | TogoVar | ||
FMO2_chr1_171180300_171217686 | 171208951 | C | T | stop_gained | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(346): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0015a0002c0002others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(30): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(195): Show | 349 | 366 | 0.9536 | 0 | c.141 others(4): Show |
p.Gln others(4): Show |
FMO2 | ENSG00000094963.14 | transcript | ENST00000209929.10 | protein_coding | 9/9 | 1480/5215 | 1414/1608 | 472/535 | chr1 | TogoVar | ||
FOLR3_chr11_72130725_72144892 | 72139110 | CTA | C | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(333): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(24): Show | 336 | 384 | 0.8750 | -2 | c.320 others(9): Show |
p.Tyr others(5): Show |
FOLR3 | ENSG00000110203.10 | transcript | ENST00000611028.3 | protein_coding | 3/5 | 370/849 | 320/738 | 107/245 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
FOXD4L3_chr9_68297867_68310084 | 68303273 | A | T | stop_gained | HIGH | HG00423.hp1 HG00544.hp2 HG00621.hp1 others(81): Show |
a0001a0007 | a0001c0002a0001c0003a0001c0014others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(3): Show | a0001c0002t0001g0000a0001c0002t0003g0000a0001c0003t0001g0000others(3): Show | 84 | 175 | 0.4800 | 0 | c.322 others(3): Show |
p.Lys others(4): Show |
FOXD4L3 | ENSG00000187559.6 | transcript | ENST00000342833.4 | protein_coding | 1/1 | 407/2218 | 322/1254 | 108/417 | chr9 | TogoVar | ||
FOXD4L6_chr9_41121435_41133681 | 41127295 | G | T | stop_gained | HIGH | HG01884.hp2 | a0008 | a0008c0009 | a0008c0009t0015 | a0008c0009t0015g0000 | 1 | 325 | 0.0031 | 0 | c.108 others(4): Show |
p.Cys others(4): Show |
FOXD4L6 | ENSG00000273514.2 | transcript | ENST00000622588.2 | protein_coding | 1/1 | 1387/2247 | 1089/1254 | 363/417 | chr9 | TogoVar | ||
FUT2_chr19_48690971_48710951 | 48703417 | G | A | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(88): Show |
a0002 | a0002c0002a0002c0008a0002c0022 | a0002c0002t0003a0002c0002t0005a0002c0002t0008others(13): Show | a0002c0002t0003g0004a0002c0002t0003g0008a0002c0002t0003g0017others(51): Show | 91 | 394 | 0.2310 | 0 | c.461 others(3): Show |
p.Trp others(4): Show |
FUT2 | ENSG00000176920.14 | transcript | ENST00000425340.3 | protein_coding | 2/2 | 582/3116 | 461/1032 | 154/343 | chr19 | TogoVar | ||
GATA5_chr20_62458497_62480995 | 62475520 | A | C | start_lost | HIGH | HG01884.hp1 | a0006 | a0006c0022 | a0006c0022t0003 | a0006c0022t0003g0047 | 1 | 382 | 0.0026 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 2/7 | 89/2620 | 2/1194 | 1/397 | chr20 | TogoVar | ||
GBGT1_chr9_133147948_133168914 | 133154258 | G | T | stop_gained | HIGH | HG01243.hp2 HG01261.hp2 HG01884.hp2 others(5): Show |
a0004a0010a0018others(1): Show | a0004c0008a0004c0026a0010c0032others(2): Show | a0004c0008t0001a0004c0008t0002a0004c0008t0009others(4): Show | a0004c0008t0001g0063a0004c0008t0001g0192a0004c0008t0002g0183others(5): Show | 8 | 446 | 0.0179 | 0 | c.363 others(3): Show |
p.Tyr others(4): Show |
GBGT1 | ENSG00000148288.13 | transcript | ENST00000372040.9 | protein_coding | 7/7 | 644/1954 | 363/1044 | 121/347 | chr9 | TogoVar | ||
GBP3_chr1_89001680_89027866 | 89010225 | GATTCTCC others(2709): Show |
G | exon_loss_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(79): Show |
a0002a0016a0018 | a0002c0002a0016c0013a0018c0020 | a0002c0002t0003a0002c0002t0006a0002c0002t0009others(2): Show | a0002c0002t0003g0013a0002c0002t0003g0034a0002c0002t0003g0035others(67): Show | 82 | 436 | 0.1881 | -2716 | c.868 others(16): Show |
GBP3 | ENSG00000117226.12 | transcript | ENST00000370481.9 | protein_coding | 8/11 | chr1 | TogoVar | ||||||
GCSAML_chr1_247544134_247582690 | 247556467 | G | A | splice_donor_variant others(1): Show |
HIGH | HG01074.hp2 HG01123.hp2 HG01361.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(1): Show | a0001c0001t0001g0182a0001c0001t0001g0194a0001c0001t0001g0212others(10): Show | 22 | 412 | 0.0534 | 0 | c.89+ others(4): Show |
GCSAML | ENSG00000169224.13 | transcript | ENST00000366488.5 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42628209 | TTTATATG others(2672): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG00280.hp2 HG00423.hp2 HG00621.hp2 others(87): Show |
a0001a0004a0008 | a0001c0001a0001c0008a0001c0012others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0002g0016a0001c0001t0002g0017a0001c0001t0002g0021others(87): Show | 90 | 210 | 0.4286 | -2679 | c.71- others(15): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |