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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNDP2_chr18_74491363_74528454 | 74518940 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(352): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(56): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(255): Show | 355 | 424 | 0.8373 | 1 | c.121 others(7): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNFN_chr19_42382019_42395297 | 42389037 | T | C | start_lost others(1): Show |
HIGH | HG03041.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0046 | 1 | 276 | 0.0036 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
CNFN | ENSG00000105427.10 | transcript | ENST00000222032.10 | protein_coding | 2/4 | 61/533 | 1/339 | 1/112 | chr19 | TogoVar | ||
CNOT10_chr3_32680188_32778875 | 32704796 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(12): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0338a0001c0001t0001g0339a0001c0001t0001g0340others(12): Show | 15 | 354 | 0.0424 | 1 | c.118 others(6): Show |
CNOT10 | ENSG00000182973.20 | transcript | ENST00000328834.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr3 | 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 | 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 | |||||
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 | ||||||
CYP3A43_chr7_99823013_99871093 | 99836454 | TA | T | frameshift_variant others(1): Show |
HIGH | HG01109.hp2 HG01516.hp1 HG01517.hp1 others(34): Show |
a0002 | a0002c0002a0002c0010a0002c0011others(3): Show | a0002c0002t0001a0002c0010t0001a0002c0011t0001others(3): Show | a0002c0002t0001g0037a0002c0002t0001g0039a0002c0002t0001g0040others(28): Show | 37 | 326 | 0.1135 | -1 | c.74d others(3): Show |
p.Tyr others(4): Show |
CYP3A43 | ENSG00000021461.18 | transcript | ENST00000354829.7 | protein_coding | 2/13 | 177/1707 | 74/1512 | 25/503 | chr7 | 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 | ||
CYP4A22_chr1_47132441_47154727 | 47143917 | G | T | splice_donor_variant others(1): Show |
HIGH | HG02922.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 2 | 440 | 0.0046 | 0 | c.790 others(5): Show |
CYP4A22 | ENSG00000162365.13 | transcript | ENST00000371891.8 | protein_coding | 6/11 | chr1 | TogoVar | ||||||
DBF4B_chr17_44703665_44757264 | 44708840 | G | T | splice_donor_variant others(1): Show |
HIGH | HG00558.hp2 HG02145.hp2 HG02630.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276a0001c0001t0001g0277a0001c0001t0001g0278others(8): Show | 11 | 288 | 0.0382 | 0 | c.19+ others(4): Show |
DBF4B | ENSG00000161692.18 | transcript | ENST00000315005.8 | protein_coding | 1/13 | chr17 | 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 | ||
DGKH_chr13_42043648_42247896 | 42159244 | C | CTTTTTTT others(2): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(66): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0015a0001c0001t0021others(40): Show | a0001c0001t0002g0052a0001c0001t0002g0083a0001c0001t0002g0139others(66): Show | 69 | 316 | 0.2184 | 9 | c.623 others(21): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DIDO1_chr20_62872743_62931505 | 62926430 | ACCGCAGG | A | splice_donor_variant others(2): Show |
HIGH | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(63): Show |
a0001a0002a0003others(3): Show | a0001c0009a0002c0002a0003c0003others(8): Show | a0001c0009t0001a0002c0002t0001a0003c0003t0001others(8): Show | a0001c0009t0001g0024a0002c0002t0001g0267a0003c0003t0001g0021others(55): Show | 66 | 320 | 0.2063 | -7 | c.-20 others(20): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 1/15 | chr20 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122581581 | CAGAAATG others(12696): Show |
C | exon_loss_variant | HIGH | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(37): Show |
a0003a0008a0011others(6): Show | a0003c0005a0003c0017a0003c0086others(10): Show | a0003c0005t0001a0003c0017t0001a0003c0086t0002others(12): Show | a0003c0005t0001g0091a0003c0005t0001g0092a0003c0005t0001g0094others(34): Show | 40 | 282 | 0.1418 | -12703 | c.142 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 15/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122600824 | GTGGATGA others(12170): Show |
G | exon_loss_variant | HIGH | HG02896.hp1 HG02897.hp2 HG03041.hp2 others(2): Show |
a0032a0036a0058 | a0032c0031a0036c0035a0058c0048 | a0032c0031t0003a0036c0035t0003a0058c0048t0002 | a0032c0031t0003g0013a0036c0035t0003g0172a0036c0035t0003g0173others(1): Show | 5 | 282 | 0.0177 | -12177 | c.334 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 29/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122601633 | CTTAACCT others(12170): Show |
C | exon_loss_variant | HIGH | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(96): Show |
a0003a0004a0007others(32): Show | a0003c0005a0003c0017a0003c0086others(38): Show | a0003c0005t0001a0003c0017t0001a0003c0086t0002others(44): Show | a0003c0005t0001g0091a0003c0005t0001g0092a0003c0005t0001g0094others(90): Show | 99 | 282 | 0.3511 | -12177 | c.350 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3523/7984 | INFO_REALIGN_3_PRIME | chr10 | 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 | ||
DNAI2_chr17_74269234_74319884 | 74314120 | G | T | splice_acceptor_variant others(1): Show |
HIGH | HG03041.hp2 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0260 | 1 | 398 | 0.0025 | 0 | c.172 others(6): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 12/13 | chr17 | TogoVar | ||||||
DNHD1_chr11_6492280_6577020 | 6558077 | C | T | stop_gained | HIGH | HG03041.hp1 | a0097 | a0097c0119 | a0097c0119t0002 | a0097c0119t0002g0153 | 1 | 342 | 0.0029 | 0 | c.878 others(4): Show |
p.Arg others(5): Show |
DNHD1 | ENSG00000179532.13 | transcript | ENST00000254579.11 | protein_coding | 25/43 | 9362/14876 | 8782/14262 | 2928/4753 | chr11 | 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 | ||
DYDC2_chr10_80351781_80373073 | 80362949 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG01243.hp2 HG02809.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0097 | 3 | 388 | 0.0077 | 0 | c.148 others(5): Show |
DYDC2 | ENSG00000133665.13 | transcript | ENST00000256039.3 | protein_coding | 3/4 | chr10 | TogoVar | ||||||
DYNLT5_chr1_66747459_66784047 | 66776404 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00544.hp1 others(52): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0010a0003c0003t0021 | a0003c0003t0002g0007a0003c0003t0002g0011a0003c0003t0002g0012others(30): Show | 55 | 402 | 0.1368 | 0 | c.336 others(5): Show |
DYNLT5 | ENSG00000152760.10 | transcript | ENST00000282670.7 | protein_coding | 4/4 | chr1 | 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 | ||||||
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 | ||||||
EPPK1_chr8_143852324_143883467 | 143863764 | C | CGGCGGCG others(17526): Show |
frameshift_variant others(1): Show |
HIGH | HG03041.hp2 | a0025 | a0025c0161 | a0025c0161t0001 | a0025c0161t0001g0196 | 1 | 424 | 0.0024 | 17533 | c.948 others(17542): Show |
p.Ala others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9564/16005 | 9489/15267 | 3163/5088 | chr8 | 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 | |
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 | ||||||
FAM187B_chr19_35219800_35233739 | 35228117 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(123): Show |
a0002a0007 | a0002c0002a0002c0005a0002c0006others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0005t0001others(4): Show | a0002c0002t0001g0002a0002c0002t0002g0018a0002c0005t0001g0006others(7): Show | 126 | 450 | 0.2800 | 0 | c.564 others(3): Show |
p.Trp others(4): Show |
FAM187B | ENSG00000177558.4 | transcript | ENST00000324675.4 | protein_coding | 1/2 | 623/1194 | 564/1110 | 188/369 | chr19 | 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 | ||
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 | |||||
FBXW10B_chr17_15578886_15624704 | 15605362 | G | A | stop_gained | HIGH | HG02145.hp2 HG02258.hp1 HG02970.hp1 others(3): Show |
a0015 | a0015c0013 | a0015c0013t0006a0015c0013t0049 | a0015c0013t0006g0026a0015c0013t0006g0028a0015c0013t0006g0029others(3): Show | 6 | 452 | 0.0133 | 0 | c.129 others(4): Show |
p.Arg others(4): Show |
FBXW10B | ENSG00000241322.11 | transcript | ENST00000395906.8 | protein_coding | 7/12 | 1486/7540 | 1294/2259 | 432/752 | chr17 | 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 | |||||
FIG4_chr6_109686296_109830426 | 109743192 | C | A | stop_gained | HIGH | HG03041.hp1 | a0006 | a0006c0013 | a0006c0013t0002 | a0006c0013t0002g0222 | 1 | 370 | 0.0027 | 0 | c.959 others(3): Show |
p.Ser others(4): Show |
FIG4 | ENSG00000112367.12 | transcript | ENST00000230124.8 | protein_coding | 9/23 | 1099/3025 | 959/2724 | 320/907 | 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 | ||
FMO2_chr1_171180300_171217686 | 171209118 | C | CT | frameshift_variant | HIGH | HG00140.hp2 HG00544.hp2 HG00741.hp2 others(78): Show |
a0002a0004 | a0002c0002a0002c0019a0004c0009 | a0002c0002t0004a0002c0002t0005a0002c0002t0025others(2): Show | a0002c0002t0004g0004a0002c0002t0004g0008a0002c0002t0004g0009others(40): Show | 81 | 366 | 0.2213 | 1 | c.158 others(5): Show |
p.Cys others(5): Show |
FMO2 | ENSG00000094963.14 | transcript | ENST00000209929.10 | protein_coding | 9/9 | 1655/5215 | 1589/1608 | 530/535 | INFO_REALIGN_3_PRIME | 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 | |
FOXD4L1_chr2_113493665_113506150 | 113500127 | AC | A | frameshift_variant | HIGH | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(96): Show |
a0000 | a0000c0002a0000c0005a0000c0009others(3): Show | a0000c0002t0002a0000c0002t0014a0000c0002t0016others(5): Show | a0000c0002t0002g0000a0000c0002t0014g0000a0000c0002t0016g0000others(5): Show | 99 | 326 | 0.3037 | -1 | c.876 others(4): Show |
p.Gly others(5): Show |
FOXD4L1 | ENSG00000184492.7 | transcript | ENST00000306507.7 | protein_coding | 1/1 | 1468/2486 | 876/1227 | 292/408 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
FOXD4L1_chr2_113493665_113506150 | 113500482 | A | G | stop_lost | HIGH | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(98): Show |
a0000 | a0000c0002a0000c0005a0000c0009others(4): Show | a0000c0002t0002a0000c0002t0014a0000c0002t0016others(6): Show | a0000c0002t0002g0000a0000c0002t0014g0000a0000c0002t0016g0000others(6): Show | 101 | 326 | 0.3098 | 0 | c.122 others(4): Show |
p.Ter others(11): Show |
FOXD4L1 | ENSG00000184492.7 | transcript | ENST00000306507.7 | protein_coding | 1/1 | 1818/2486 | 1226/1227 | 409/408 | chr2 | 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 | ||
FOXD4_chr9_111231_123417 | 116800 | C | G | stop_lost | HIGH | HG00423.hp1 HG00544.hp1 HG00639.hp1 others(105): Show |
a0000 | a0000c0002a0000c0006a0000c0016others(5): Show | a0000c0002t0001a0000c0002t0002a0000c0002t0009others(9): Show | a0000c0002t0001g0000a0000c0002t0002g0000a0000c0002t0009g0000others(9): Show | 108 | 452 | 0.2389 | 0 | c.132 others(4): Show |
p.Ter others(11): Show |
FOXD4 | ENSG00000170122.6 | transcript | ENST00000382500.4 | protein_coding | 1/1 | 1618/2187 | 1320/1320 | 440/439 | chr9 | 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 | ||
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 | |||||
GJB4_chr1_34754740_34767327 | 34761404 | CT | C | frameshift_variant | HIGH | HG01109.hp1 HG02258.hp1 HG02647.hp1 others(7): Show |
a0005 | a0005c0006a0005c0008a0005c0009 | a0005c0006t0001a0005c0006t0004a0005c0008t0001others(1): Show | a0005c0006t0001g0002a0005c0006t0004g0002a0005c0008t0001g0002others(1): Show | 10 | 462 | 0.0217 | -1 | c.153 others(4): Show |
p.Phe others(4): Show |
GJB4 | ENSG00000189433.7 | transcript | ENST00000339480.3 | protein_coding | 2/2 | 524/1444 | 153/801 | 51/266 | INFO_REALIGN_3_PRIME | chr1 | 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 | ||
GOLGA6L10_chr15_82334993_82354475 | 82344824 | G | A | stop_gained | HIGH | HG02572.hp2 HG02723.hp2 HG02970.hp2 others(3): Show |
a0011a0053 | a0011c0010a0053c0049 | a0011c0010t0010a0053c0049t0045 | a0011c0010t0010g0017a0011c0010t0010g0123a0011c0010t0010g0125others(1): Show | 6 | 301 | 0.0199 | 0 | c.103 others(4): Show |
p.Gln others(4): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 1136/4452 | 1036/1569 | 346/522 | chr15 | TogoVar |