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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL6A5_chr3_130340672_130489846 | 130471876 | AT | A | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(101): Show |
a0001a0004a0006others(18): Show | a0001c0001a0001c0014a0001c0040others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(98): Show | 104 | 292 | 0.3562 | -1 | c.777 others(5): Show |
p.Leu others(6): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/41 | 8110/8969 | 7772/7845 | 2591/2614 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
CR1_chr1_207491157_207646765 | 207555265 | AGCCTTCA others(17088): Show |
A | exon_loss_variant | HIGH | HG02258.hp2 HG02622.hp2 HG02965.hp2 others(4): Show |
a0013a0025 | a0013c0012a0025c0025 | a0013c0012t0001a0013c0012t0019a0025c0025t0001 | a0013c0012t0001g0015a0013c0012t0001g0019a0013c0012t0001g0021others(4): Show | 7 | 360 | 0.0194 | -17095 | c.310 others(19): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 20/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CT45A10_chrX_135876065_135898444 | 135882608 | A | AGCTTGTG others(28): Show |
frameshift_variant | HIGH | NA18906.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0101 | 1 | 258 | 0.0039 | 35 | c.439 others(42): Show |
p.Met others(5): Show |
CT45A10 | ENSG00000269586.8 | transcript | ENST00000682849.1 | protein_coding | 4/5 | 545/869 | 439/570 | 147/189 | chrX | TogoVar | ||
CT45A10_chrX_135876065_135898444 | 135882625 | A | AG | frameshift_variant | HIGH | NA18906.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0101 | 1 | 258 | 0.0039 | 1 | c.422 others(8): Show |
p.Glu others(5): Show |
CT45A10 | ENSG00000269586.8 | transcript | ENST00000682849.1 | protein_coding | 4/5 | 528/869 | 422/570 | 141/189 | 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 | ||||||
CYP2A7_chr19_40870439_40887231 | 40875778 | G | T | stop_gained | HIGH | HG00738.hp1 HG01070.hp1 HG01071.hp2 others(19): Show |
a0006a0023a0030 | a0006c0010a0006c0016a0006c0021others(4): Show | a0006c0010t0001a0006c0016t0001a0006c0021t0007others(4): Show | a0006c0010t0001g0014a0006c0010t0001g0032a0006c0010t0001g0199others(11): Show | 22 | 398 | 0.0553 | 0 | c.140 others(4): Show |
p.Ser others(4): Show |
CYP2A7 | ENSG00000198077.11 | transcript | ENST00000301146.9 | protein_coding | 9/9 | 1421/1760 | 1400/1485 | 467/494 | chr19 | 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 | ||
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 | ||
DCDC2C_chr2_3698575_3853008 | 3778886 | T | C | splice_donor_variant others(1): Show |
HIGH | HG01123.hp2 HG02145.hp1 HG02486.hp1 others(11): Show |
a0001a0005 | a0001c0005a0005c0010 | a0001c0005t0001a0001c0005t0002a0001c0005t0005others(4): Show | a0001c0005t0001g0229a0001c0005t0001g0231a0001c0005t0001g0248others(11): Show | 14 | 324 | 0.0432 | 0 | c.102 others(6): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 9/10 | chr2 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150256193 | T | TC | frameshift_variant | HIGH | HG00544.hp1 HG01255.hp1 HG01255.hp2 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0002a0003c0004t0003others(1): Show | a0003c0004t0001g0049a0003c0004t0001g0088a0003c0004t0002g0010others(3): Show | 6 | 116 | 0.0517 | 1 | c.225 others(5): Show |
p.Ala others(5): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 16/16 | 2834/4075 | 2251/2301 | 751/766 | INFO_REALIGN_3_PRIME | chr4 | 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 | |
DEFB128_chr20_182853_194711 | 189622 | A | T | start_lost | HIGH | HG02896.hp1 NA18906.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0011 | 2 | 470 | 0.0043 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
DEFB128 | ENSG00000185982.7 | transcript | ENST00000334391.5 | protein_coding | 1/2 | 90/403 | 2/282 | 1/93 | chr20 | 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 | ||
DGKH_chr13_42043648_42247896 | 42159244 | C | CTTTTTTT others(3): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00642.hp1 HG01993.hp1 HG02074.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0015a0001c0002t0012a0001c0003t0006others(8): Show | a0001c0001t0015g0163a0001c0002t0012g0049a0001c0003t0006g0262others(10): Show | 13 | 316 | 0.0411 | 10 | c.623 others(22): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | 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 | |
DIAPH2_chrX_96679842_97609997 | 96916417 | G | GTT | splice_acceptor_variant others(1): Show |
HIGH | HG01109.hp1 HG02071.hp1 HG02257.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0023a0001c0001t0002g0052a0001c0002t0001g0015others(3): Show | 6 | 147 | 0.0408 | 2 | c.733 others(13): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chrX | 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 | ||
DPRX_chr19_53626999_53642014 | 53636914 | G | T | stop_gained | HIGH | HG00639.hp1 HG02280.hp1 HG02486.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0029a0002c0002t0001g0056a0002c0002t0001g0057others(2): Show | 7 | 478 | 0.0146 | 0 | c.502 others(3): Show |
p.Glu others(4): Show |
DPRX | ENSG00000204595.3 | transcript | ENST00000376650.2 | protein_coding | 3/3 | 610/710 | 502/576 | 168/191 | chr19 | 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 | ||
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 | ||||||
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 | ||||||
EFCAB3_chr17_62375553_62421480 | 62395190 | T | C | splice_donor_variant others(1): Show |
HIGH | NA18522.hp1 NA18906.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117 | 3 | 368 | 0.0082 | 0 | c.488 others(5): Show |
EFCAB3 | ENSG00000172421.10 | transcript | ENST00000305286.8 | protein_coding | 6/9 | chr17 | 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 | ||||||
EPSTI1_chr13_42881388_42997241 | 42926429 | G | C | stop_gained others(1): Show |
HIGH | HG01243.hp1 HG02451.hp1 HG03471.hp2 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0006a0003c0004t0011 | a0003c0004t0006g0241a0003c0004t0006g0333a0003c0004t0006g0335others(1): Show | 4 | 352 | 0.0114 | 0 | c.564 others(3): Show |
p.Tyr others(4): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 7/11 | 640/3106 | 564/924 | 188/307 | chr13 | 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 | ||||||
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 | |||||
FIG4_chr6_109686296_109830426 | 109732621 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(276): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0001others(20): Show | a0001c0001t0002g0015a0001c0001t0002g0017a0001c0001t0002g0122others(274): Show | 279 | 370 | 0.7541 | 1 | c.447 others(6): Show |
FIG4 | ENSG00000112367.12 | transcript | ENST00000230124.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr6 | 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 | ||
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 | ||
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 | ||
FOXD4L5_chr9_65277101_65290209 | 65283162 | AG | A | frameshift_variant | HIGH | HG00323.hp1 HG00323.hp2 HG00597.hp1 others(52): Show |
a0000 | a0000c0001a0000c0007a0000c0008others(6): Show | a0000c0001t0001a0000c0001t0004a0000c0001t0005others(12): Show | a0000c0001t0001g0000a0000c0001t0004g0000a0000c0001t0005g0000others(12): Show | 55 | 81 | 0.6790 | -1 | c.121 others(5): Show |
p.Trp others(5): Show |
FOXD4L5 | ENSG00000204779.2 | transcript | ENST00000377420.1 | protein_coding | 1/1 | 2047/3109 | 1215/1251 | 405/416 | chr9 | TogoVar | ||
FXR2_chr17_7586230_7619897 | 7614454 | T | A | stop_gained others(1): Show |
HIGH | NA18906.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0058 | 1 | 426 | 0.0024 | 0 | c.79A others(2): Show |
p.Lys others(3): Show |
FXR2 | ENSG00000129245.13 | transcript | ENST00000250113.12 | protein_coding | 1/17 | 444/2987 | 79/2022 | 27/673 | chr17 | TogoVar | ||
FXR2_chr17_7586230_7619897 | 7614455 | G | GAAAGGAA others(3): Show |
frameshift_variant | HIGH | NA18906.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0058 | 1 | 426 | 0.0024 | 10 | c.77_ others(15): Show |
p.Lys others(4): Show |
FXR2 | ENSG00000129245.13 | transcript | ENST00000250113.12 | protein_coding | 1/17 | 442/2987 | 77/2022 | 26/673 | chr17 | TogoVar | ||
GABRR3_chr3_97980102_98040315 | 98007903 | A | T | stop_gained others(1): Show |
HIGH | HG00280.hp2 HG00323.hp2 HG00642.hp1 others(43): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(10): Show | a0002c0002t0001g0271a0002c0002t0002g0002a0002c0002t0002g0004others(40): Show | 46 | 382 | 0.1204 | 0 | c.615 others(3): Show |
p.Tyr others(4): Show |
GABRR3 | ENSG00000183185.10 | transcript | ENST00000472788.6 | protein_coding | 7/10 | 743/3113 | 615/1404 | 205/467 | chr3 | TogoVar | ||
GAL3ST3_chr11_66035765_66054161 | 66043477 | C | CG | frameshift_variant | HIGH | HG00621.hp1 HG00673.hp1 HG00673.hp2 others(19): Show |
a0003a0004a0006 | a0003c0005a0003c0015a0003c0016others(2): Show | a0003c0005t0001a0003c0005t0002a0003c0005t0005others(5): Show | a0003c0005t0001g0017a0003c0005t0001g0062a0003c0005t0002g0016others(11): Show | 22 | 394 | 0.0558 | 1 | c.325 others(4): Show |
p.Arg others(5): Show |
GAL3ST3 | ENSG00000175229.7 | transcript | ENST00000312006.5 | protein_coding | 3/3 | 588/3301 | 325/1296 | 109/431 | chr11 | 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 | |||||
GNLY_chr2_85689358_85703852 | 85694429 | G | A | stop_gained | HIGH | HG00735.hp2 HG01109.hp2 HG02572.hp1 others(5): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0007a0003c0003t0003g0020 | 8 | 398 | 0.0201 | 0 | c.11G others(2): Show |
p.Trp others(2): Show |
GNLY | ENSG00000115523.17 | transcript | ENST00000263863.9 | protein_coding | 1/5 | 72/777 | 11/438 | 4/145 | chr2 | TogoVar | ||
GOLGA6L1_chr15_23122066_23141822 | 23129472 | G | A | stop_gained others(1): Show |
HIGH | HG00408.hp1 HG00438.hp2 HG00544.hp2 others(52): Show |
a0002a0004a0006others(22): Show | a0002c0003a0002c0046a0002c0048others(24): Show | a0002c0003t0002a0002c0003t0018a0002c0046t0002others(27): Show | a0002c0003t0002g0005a0002c0003t0002g0015a0002c0003t0002g0016others(40): Show | 55 | 204 | 0.2696 | 0 | c.198 others(4): Show |
p.Gln others(4): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 2072/3822 | 1981/2007 | 661/668 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(409): Show |
frameshift_variant | HIGH | HG00621.hp1 HG01243.hp1 HG01884.hp1 others(16): Show |
a0001a0017a0018 | a0001c0003a0001c0017a0017c0043others(1): Show | a0001c0003t0001a0001c0017t0001a0017c0043t0001others(1): Show | a0001c0003t0001g0006a0001c0003t0001g0017a0001c0003t0001g0133others(4): Show | 19 | 396 | 0.0480 | 416 | c.239 others(425): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440318 | T | TCCCGCAT others(208): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(284): Show |
a0000a0001a0003others(22): Show | a0000c0051a0001c0001a0001c0003others(52): Show | a0000c0051t0001a0001c0001t0001a0001c0001t0003others(65): Show | a0000c0051t0001g0067a0001c0001t0001g0001a0001c0001t0001g0002others(92): Show | 287 | 396 | 0.7248 | 215 | c.215 others(224): Show |
p.Ser others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2218/3499 | 2156/2730 | 719/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440394 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(388): Show |
a0000a0001a0002others(27): Show | a0000c0002a0000c0004a0000c0010others(74): Show | a0000c0002t0002a0000c0002t0005a0000c0002t0011others(95): Show | a0000c0002t0002g0003a0000c0002t0002g0005a0000c0002t0002g0040others(132): Show | 391 | 396 | 0.9874 | -1 | c.208 others(5): Show |
p.Arg others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2142/3499 | 2080/2730 | 694/909 | chr15 | TogoVar |