| view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | a0005c0007t0004a0005c0007t0009a0005c0012t0004others(4): Show | a0005c0007t0004g0028 a0005c0007t0004g0031 a0005c0007t0004g0032 others(7): Show |
10 | 174 | 0.0575 | 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 | |||
| FAM86B1_chr8_12177106_12199082 | 12186829 | G | C | stop_gained | HIGH | HG01070.hp2 HG01257.hp1 |
a0009 | a0009c0011 | a0009c0011t0005 | a0009c0011t0005g0026 a0009c0011t0005g0027 |
2 | 174 | 0.0115 | 0 | c.245 others(3): Show |
p.Ser others(3): Show |
FAM86B1 | ENSG00000186523.15 | transcript | ENST00000448228.7 | protein_coding | 4/7 | 257/2403 | 245/891 | 82/296 | chr8 | TogoVar | |||
| FAM86B1_chr8_12177106_12199082 | 12189832 | G | T | stop_gained | HIGH | HG02109.hp2 HG02486.hp2 HG02572.hp2 others(5): Show |
a0005a0011 | a0005c0007a0005c0012a0011c0013 | a0005c0007t0004a0005c0007t0009a0005c0012t0004others(2): Show | a0005c0007t0004g0028 a0005c0007t0004g0031 a0005c0007t0004g0032 others(5): Show |
8 | 174 | 0.0460 | 0 | c.216 others(3): Show |
p.Cys others(3): Show |
FAM86B1 | ENSG00000186523.15 | transcript | ENST00000448228.7 | protein_coding | 3/7 | 228/2403 | 216/891 | 72/296 | chr8 | TogoVar | |||
| FAM86B1_chr8_12177106_12199082 | 12193979 | C | T | stop_gained | HIGH | HG02109.hp2 HG02486.hp2 HG02572.hp2 others(3): Show |
a0005 | a0005c0007a0005c0012 | a0005c0007t0004a0005c0007t0009a0005c0012t0004 | a0005c0007t0004g0028 a0005c0007t0004g0031 a0005c0007t0004g0032 others(3): Show |
6 | 174 | 0.0345 | 0 | c.92G others(2): Show |
p.Trp others(3): Show |
FAM86B1 | ENSG00000186523.15 | transcript | ENST00000448228.7 | protein_coding | 1/7 | 104/2403 | 92/891 | 31/296 | chr8 | TogoVar | |||
| FAM86B2_chr8_12419421_12441400 | 12428702 | G | A | stop_gained | HIGH | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
a0006a0009a0012 | a0006c0006a0006c0012a0009c0008others(1): Show | a0006c0006t0008a0006c0012t0011a0009c0008t0012others(2): Show | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(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 | |||
| FAM86B2_chr8_12419421_12441400 | 12432106 | G | T | stop_gained | HIGH | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
a0006 | a0006c0006a0006c0012 | a0006c0006t0008a0006c0012t0011 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | 50 | 0.0600 | 0 | c.216 others(3): Show |
p.Cys others(3): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/8 | 273/2518 | 216/993 | 72/330 | chr8 | TogoVar | |||
| FAM8A1_chr6_17595302_17616715 | 17600887 | C | T | stop_gained | HIGH | NA19006.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0009 | 1 | 372 | 0.0027 | 0 | c.478 others(3): Show |
p.Gln others(4): Show |
FAM8A1 | ENSG00000137414.7 | transcript | ENST00000259963.4 | protein_coding | 1/5 | 586/4726 | 478/1242 | 160/413 | chr6 | TogoVar | |||
| FAM90A18_chr8_7718091_7731101 | 7726079 | A | ACAGCGAT others(6): Show |
frameshift_variant others(1): Show |
HIGH | HG03486.hp2 | a0029 | a0029c0019 | a0029c0019t0001 | a0029c0019t0001g0008 | 1 | 44 | 0.0227 | 13 | c.137 others(22): Show |
p.Leu others(5): Show |
FAM90A18 | ENSG00000285913.1 | transcript | ENST00000647769.1 | protein_coding | 4/4 | 1388/1395 | 1388/1395 | 463/464 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||
| FAM90A1_chr12_8216260_8232618 | 8222185 | C | CACGGTAC others(29444): Show |
stop_gained others(1): Show |
HIGH | HG02559.hp2 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0260 | 1 | 255 | 0.0039 | 29451 | c.103 others(29460): Show |
p.Thr others(29464): Show |
FAM90A1 | ENSG00000171847.11 | transcript | ENST00000538603.6 | protein_coding | 7/7 | 1590/2516 | 1031/1395 | 344/464 | chr12 | TogoVar | |||
| FAM90A1_chr12_8216260_8232618 | 8224731 | C | CGGGGGAG others(29440): Show |
frameshift_variant others(1): Show |
HIGH | NA18983.hp2 | a0026 | a0026c0016 | a0026c0016t0011 | a0026c0016t0011g0250 | 1 | 462 | 0.0022 | 29447 | c.101 others(29454): Show |
p.Leu others(4): Show |
FAM90A1 | ENSG00000171847.11 | transcript | ENST00000538603.6 | protein_coding | 4/7 | 660/2516 | 101/1395 | 34/464 | chr12 | TogoVar | |||
| FAM90A22_chr8_7566995_7580006 | 7572944 | G | GGCCCGCT others(11614): Show |
frameshift_variant others(1): Show |
HIGH | HG00438.hp1 | a0018 | a0018c0027 | a0018c0027t0001 | a0018c0027t0001g0026 | 1 | 86 | 0.0116 | 11621 | c.445 others(11628): Show |
p.Pro others(5): Show |
FAM90A22 | ENSG00000285687.1 | transcript | ENST00000648590.1 | protein_coding | 4/4 | 445/1395 | 445/1395 | 149/464 | chr8 | TogoVar | |||
| FAM90A23_chr8_7574644_7587653 | 7579760 | T | TCTGAGCG others(5437): Show |
frameshift_variant others(1): Show |
HIGH | NA18949.hp1 | a0033 | a0033c0028 | a0033c0028t0001 | a0033c0028t0001g0032 | 1 | 122 | 0.0082 | 5444 | c.127 others(5453): Show |
p.Ser others(5): Show |
FAM90A23 | ENSG00000285765.1 | transcript | ENST00000648435.1 | protein_coding | 4/4 | 1278/1395 | 1278/1395 | 426/464 | chr8 | TogoVar | |||
| FAM90A23_chr8_7574644_7587653 | 7579810 | G | GCCAGGAG others(5438): Show |
stop_gained others(1): Show |
HIGH | NA19087.hp1 | a0038 | a0038c0027 | a0038c0027t0001 | a0038c0027t0001g0031 | 1 | 128 | 0.0078 | 5445 | c.122 others(5454): Show |
p.Leu others(5458): Show |
FAM90A23 | ENSG00000285765.1 | transcript | ENST00000648435.1 | protein_coding | 4/4 | 1228/1395 | 1228/1395 | 410/464 | chr8 | TogoVar | |||
| FANCG_chr9_35068839_35084942 | 35075282 | G | A | stop_gained | HIGH | HG02129.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0030 | 1 | 424 | 0.0024 | 0 | c.147 others(4): Show |
p.Gln others(4): Show |
FANCG | ENSG00000221829.11 | transcript | ENST00000378643.8 | protein_coding | 11/14 | 1895/2556 | 1477/1869 | 493/622 | chr9 | TogoVar | |||
| FANCG_chr9_35068839_35084942 | 35075294 | C | A | stop_gained | HIGH | HG02129.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0030 | 1 | 424 | 0.0024 | 0 | c.146 others(4): Show |
p.Glu others(4): Show |
FANCG | ENSG00000221829.11 | transcript | ENST00000378643.8 | protein_coding | 11/14 | 1883/2556 | 1465/1869 | 489/622 | chr9 | TogoVar | |||
| FBN3_chr19_8060402_8154592 | 8144965 | A | T | stop_gained | HIGH | NA18522.hp1 | a0127 | a0127c0058 | a0127c0058t0001 | a0127c0058t0001g0032 | 1 | 378 | 0.0026 | 0 | c.453 others(3): Show |
p.Cys others(4): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 6/64 | 614/9108 | 453/8430 | 151/2809 | chr19 | TogoVar | |||
| FBP1_chr9_94598133_94644518 | 94605547 | A | C | stop_gained | HIGH | NA19090.hp2 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0193 | 1 | 356 | 0.0028 | 0 | c.735 others(3): Show |
p.Tyr others(4): Show |
FBP1 | ENSG00000165140.12 | transcript | ENST00000375326.9 | protein_coding | 6/7 | 943/1473 | 735/1017 | 245/338 | chr9 | TogoVar | |||
| FBP2_chr9_94553720_94598824 | 94559087 | G | A | stop_gained | HIGH | NA18973.hp1 | a0007 | a0007c0014 | a0007c0014t0001 | a0007c0014t0001g0297 | 1 | 378 | 0.0026 | 0 | c.871 others(3): Show |
p.Gln others(4): Show |
FBP2 | ENSG00000130957.5 | transcript | ENST00000375337.4 | protein_coding | 7/7 | 969/1336 | 871/1020 | 291/339 | chr9 | TogoVar | |||
| FBXL13_chr7_102806189_103079796 | 103027475 | T | A | stop_gained | HIGH | HG02027.hp1 | a0009 | a0009c0020 | a0009c0020t0001 | a0009c0020t0001g0031 | 1 | 326 | 0.0031 | 0 | c.571 others(3): Show |
p.Lys others(4): Show |
FBXL13 | ENSG00000161040.19 | transcript | ENST00000440067.4 | protein_coding | 6/21 | 597/4657 | 571/2478 | 191/825 | chr7 | TogoVar | |||
| FBXO24_chr7_100581328_100606117 | 100600846 | C | T | stop_gained | HIGH | NA18964.hp2 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0122 | 1 | 338 | 0.0030 | 0 | c.169 others(4): Show |
p.Gln others(4): Show |
FBXO24 | ENSG00000106336.13 | transcript | ENST00000241071.11 | protein_coding | 10/10 | 1988/2259 | 1690/1743 | 564/580 | chr7 | TogoVar | |||
| FBXO40_chr3_121588379_121635295 | 121621613 | C | T | stop_gained | HIGH | HG03688.hp2 | a0007 | a0007c0014 | a0007c0014t0003 | a0007c0014t0003g0105 | 1 | 406 | 0.0025 | 0 | c.184 others(3): Show |
p.Gln others(3): Show |
FBXO40 | ENSG00000163833.8 | transcript | ENST00000338040.6 | protein_coding | 3/4 | 338/5669 | 184/2130 | 62/709 | chr3 | TogoVar | |||
| FBXW10B_chr17_15578886_15624704 | 15605362 | G | A | stop_gained | HIGH | HG02145.hp2 HG02258.hp1 HG02970.hp1 others(3): Show |
a0015 | a0015c0013 | a0015c0013t0006a0015c0013t0049 | a0015c0013t0006g0036 a0015c0013t0006g0038 a0015c0013t0006g0039 others(3): Show |
6 | 450 | 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 | |||
| FBXW10_chr17_18739054_18784349 | 18766815 | C | T | stop_gained | HIGH | HG02132.hp2 NA18955.hp2 |
a0013 | a0013c0013 | a0013c0013t0003 | a0013c0013t0003g0076 a0013c0013t0003g0077 |
2 | 384 | 0.0052 | 0 | c.165 others(4): Show |
p.Arg others(4): Show |
FBXW10 | ENSG00000171931.13 | transcript | ENST00000395665.9 | protein_coding | 9/14 | 1848/3401 | 1657/3159 | 553/1052 | chr17 | TogoVar | |||
| FCF1_chr14_74708144_74743620 | 74734121 | A | T | stop_gained | HIGH | NA19084.hp1 | a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0115 | 1 | 362 | 0.0028 | 0 | c.499 others(3): Show |
p.Arg others(4): Show |
FCF1 | ENSG00000119616.11 | transcript | ENST00000341162.8 | protein_coding | 7/8 | 553/4341 | 499/597 | 167/198 | chr14 | TogoVar | |||
| FCGR1A_chr1_149777694_149796675 | 149784224 | C | T | stop_gained | HIGH | HG02735.hp1 | a0009 | a0009c0015 | a0009c0015t0001 | a0009c0015t0001g0001 | 1 | 412 | 0.0024 | 0 | c.274 others(3): Show |
p.Arg others(3): Show |
FCGR1A | ENSG00000150337.14 | transcript | ENST00000369168.5 | protein_coding | 3/6 | 324/1333 | 274/1125 | 92/374 | chr1 | TogoVar | |||
| FCGR2A_chr1_161500457_161524829 | 161506414 | C | T | stop_gained | HIGH | HG01081.hp1 HG01106.hp2 HG01167.hp1 others(10): Show |
a0003a0005 | a0003c0005a0005c0017 | a0003c0005t0001a0003c0005t0007a0003c0005t0011others(1): Show | a0003c0005t0001g0074 a0003c0005t0001g0076 a0003c0005t0001g0077 others(6): Show |
13 | 454 | 0.0286 | 0 | c.187 others(3): Show |
p.Gln others(3): Show |
FCGR2A | ENSG00000143226.16 | transcript | ENST00000271450.12 | protein_coding | 3/7 | 198/2646 | 187/954 | 63/317 | chr1 | TogoVar | |||
| FCRL2_chr1_157740733_157782132 | 157767441 | C | A | stop_gained | HIGH | HG01981.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0186 | 1 | 378 | 0.0026 | 0 | c.952 others(3): Show |
p.Glu others(4): Show |
FCRL2 | ENSG00000132704.16 | transcript | ENST00000361516.8 | protein_coding | 6/12 | 1011/2589 | 952/1527 | 318/508 | chr1 | TogoVar | |||
| FCRL3_chr1_157671481_157705769 | 157689798 | C | A | stop_gained others(1): Show |
HIGH | NA19066.hp1 | a0019 | a0019c0013 | a0019c0013t0001 | a0019c0013t0001g0143 | 1 | 380 | 0.0026 | 0 | c.181 others(4): Show |
p.Gly others(4): Show |
FCRL3 | ENSG00000160856.21 | transcript | ENST00000368184.8 | protein_coding | 10/15 | 2014/4638 | 1810/2205 | 604/734 | chr1 | TogoVar | |||
| FCRL6_chr1_159797360_159821257 | 159809008 | C | T | stop_gained | HIGH | HG03710.hp1 | a0007 | a0007c0020 | a0007c0020t0002 | a0007c0020t0002g0078 | 1 | 450 | 0.0022 | 0 | c.367 others(3): Show |
p.Arg others(4): Show |
FCRL6 | ENSG00000181036.14 | transcript | ENST00000368106.4 | protein_coding | 4/10 | 432/1966 | 367/1305 | 123/434 | chr1 | TogoVar | |||
| FCRL6_chr1_159797360_159821257 | 159815623 | C | T | stop_gained | HIGH | HG00099.hp2 HG00280.hp2 HG00639.hp1 others(14): Show |
a0003a0007a0015 | a0003c0003a0007c0018a0007c0020others(1): Show | a0003c0003t0002a0007c0018t0002a0007c0020t0002others(1): Show | a0003c0003t0002g0013 a0003c0003t0002g0022 a0003c0003t0002g0025 others(5): Show |
17 | 450 | 0.0378 | 0 | c.126 others(4): Show |
p.Gln others(4): Show |
FCRL6 | ENSG00000181036.14 | transcript | ENST00000368106.4 | protein_coding | 10/10 | 1332/1966 | 1267/1305 | 423/434 | chr1 | TogoVar | |||
| FCSK_chr16_70449595_70485274 | 70469284 | C | T | stop_gained | HIGH | NA19030.hp2 | a0017 | a0017c0025 | a0017c0025t0001 | a0017c0025t0001g0108 | 1 | 354 | 0.0028 | 0 | c.916 others(3): Show |
p.Gln others(4): Show |
FCSK | ENSG00000157353.17 | transcript | ENST00000288078.11 | protein_coding | 10/24 | 974/3907 | 916/3255 | 306/1084 | chr16 | TogoVar | |||
| FER1L5_chr2_96637764_96709883 | 96654488 | A | T | stop_gained | HIGH | NA19011.hp1 | a0016 | a0016c0026 | a0016c0026t0001 | a0016c0026t0001g0219 | 1 | 224 | 0.0045 | 0 | c.739 others(3): Show |
p.Arg others(4): Show |
FER1L5 | ENSG00000249715.13 | transcript | ENST00000624922.6 | protein_coding | 9/53 | 812/6438 | 739/6174 | 247/2057 | chr2 | TogoVar | |||
| FER1L5_chr2_96637764_96709883 | 96661751 | C | G | stop_gained | HIGH | HG00099.hp1 | a0009 | a0009c0025 | a0009c0025t0001 | a0009c0025t0001g0153 | 1 | 224 | 0.0045 | 0 | c.978 others(3): Show |
p.Tyr others(4): Show |
FER1L5 | ENSG00000249715.13 | transcript | ENST00000624922.6 | protein_coding | 12/53 | 1051/6438 | 978/6174 | 326/2057 | chr2 | TogoVar | |||
| FER1L5_chr2_96637764_96709883 | 96661753 | T | G | stop_gained | HIGH | HG00099.hp1 | a0009 | a0009c0025 | a0009c0025t0001 | a0009c0025t0001g0153 | 1 | 224 | 0.0045 | 0 | c.980 others(3): Show |
p.Leu others(4): Show |
FER1L5 | ENSG00000249715.13 | transcript | ENST00000624922.6 | protein_coding | 12/53 | 1053/6438 | 980/6174 | 327/2057 | chr2 | TogoVar | |||
| FER1L5_chr2_96637764_96709883 | 96661769 | C | G | stop_gained | HIGH | HG00099.hp1 | a0009 | a0009c0025 | a0009c0025t0001 | a0009c0025t0001g0153 | 1 | 224 | 0.0045 | 0 | c.996 others(3): Show |
p.Tyr others(4): Show |
FER1L5 | ENSG00000249715.13 | transcript | ENST00000624922.6 | protein_coding | 12/53 | 1069/6438 | 996/6174 | 332/2057 | chr2 | TogoVar | |||
| FER1L5_chr2_96637764_96709883 | 96661776 | G | T | stop_gained | HIGH | HG00099.hp1 | a0009 | a0009c0025 | a0009c0025t0001 | a0009c0025t0001g0153 | 1 | 223 | 0.0045 | 0 | c.100 others(4): Show |
p.Glu others(4): Show |
FER1L5 | ENSG00000249715.13 | transcript | ENST00000624922.6 | protein_coding | 12/53 | 1076/6438 | 1003/6174 | 335/2057 | chr2 | TogoVar | |||
| FFAR3_chr19_35353460_35365489 | 35359914 | G | GCCTGTGC others(60): Show |
frameshift_variant others(1): Show |
HIGH | HG02280.hp1 HG03471.hp2 |
a0011 | a0011c0011 | a0011c0011t0003 | a0011c0011t0003g0001 | 2 | 414 | 0.0048 | 67 | c.103 others(76): Show |
p.Ser others(5): Show |
FFAR3 | ENSG00000185897.7 | transcript | ENST00000327809.5 | protein_coding | 2/2 | 1238/1800 | 1037/1041 | 346/346 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
| FGF5_chr4_80261664_80296017 | 80286463 | C | T | stop_gained | HIGH | NA20300.hp2 | a0006 | a0006c0005 | a0006c0005t0079 | a0006c0005t0079g0103 | 1 | 454 | 0.0022 | 0 | c.598 others(3): Show |
p.Arg others(4): Show |
FGF5 | ENSG00000138675.17 | transcript | ENST00000312465.12 | protein_coding | 3/3 | 759/5313 | 598/807 | 200/268 | chr4 | TogoVar | |||
| FGFRL1_chr4_1006626_1031898 | 1025338 | T | G | stop_gained | HIGH | NA19079.hp2 | a0016 | a0016c0021 | a0016c0021t0001 | a0016c0021t0001g0072 | 1 | 412 | 0.0024 | 0 | c.150 others(4): Show |
p.Tyr others(4): Show |
FGFRL1 | ENSG00000127418.15 | transcript | ENST00000510644.6 | protein_coding | 7/7 | 1851/3411 | 1506/1515 | 502/504 | chr4 | TogoVar | |||
| FHAD1_chr1_15242223_15403328 | 15391209 | G | GAGACGAG others(16): Show |
frameshift_variant others(1): Show |
HIGH | HG03704.hp1 | a0055 | a0055c0052 | a0055c0052t0004 | a0055c0052t0004g0120 | 1 | 292 | 0.0034 | 23 | c.427 others(32): Show |
p.Lys others(6): Show |
FHAD1 | ENSG00000142621.21 | transcript | ENST00000688493.1 | protein_coding | 33/34 | 4480/5542 | 4293/4440 | 1431/1479 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
| FIBCD1_chr9_130897440_130944247 | 130938591 | C | T | stop_gained | HIGH | HG01433.hp2 | a0006 | a0006c0006 | a0006c0006t0012 | a0006c0006t0012g0043 | 1 | 380 | 0.0026 | 0 | c.17G others(2): Show |
p.Trp others(2): Show |
FIBCD1 | ENSG00000130720.13 | transcript | ENST00000372338.9 | protein_coding | 1/7 | 657/3650 | 17/1386 | 6/461 | chr9 | TogoVar | |||
| FIG4_chr6_109686296_109830426 | 109743192 | C | A | stop_gained | HIGH | HG03041.hp1 | a0007 | a0007c0013 | a0007c0013t0002 | a0007c0013t0002g0222 | 1 | 368 | 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 | |||
| FKBP7_chr2_178458664_178483600 | 178465916 | G | A | stop_gained | HIGH | HG03490.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0056 | 1 | 396 | 0.0025 | 0 | c.523 others(3): Show |
p.Gln others(4): Show |
FKBP7 | ENSG00000079150.19 | transcript | ENST00000424785.7 | protein_coding | 4/4 | 624/2876 | 523/669 | 175/222 | chr2 | TogoVar | |||
| FLG2_chr1_152343735_152365006 | 152350656 | G | T | stop_gained | HIGH | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(152): Show |
a0003a0004a0005others(9): Show | a0003c0002a0003c0042a0003c0043others(12): Show | a0003c0002t0002a0003c0002t0012a0003c0002t0019others(16): Show | a0003c0002t0002g0002 a0003c0002t0002g0072 a0003c0002t0002g0074 others(20): Show |
155 | 420 | 0.3690 | 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 | 152302822 | T | A | stop_gained | HIGH | HG02132.hp1 NA18979.hp1 |
a0002 | a0002c0047 | a0002c0047t0001 | a0002c0047t0001g0162 a0002c0047t0001g0188 |
2 | 424 | 0.0047 | 0 | c.120 others(5): Show |
p.Lys others(5): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 12136/12793 | 12064/12186 | 4022/4061 | chr1 | TogoVar | |||
| FLG_chr1_152297165_152330239 | 152304352 | G | A | stop_gained | HIGH | HG01243.hp1 HG01433.hp2 HG01884.hp2 others(55): Show |
a0005a0008a0009others(21): Show | a0005c0006a0005c0132a0008c0010others(25): Show | a0005c0006t0001a0005c0132t0001a0008c0010t0001others(25): Show | a0005c0006t0001g0003 a0005c0132t0001g0117 a0008c0010t0001g0026 others(32): Show |
58 | 424 | 0.1368 | 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 |
a0008a0009a0022others(15): Show | a0008c0010a0008c0125a0009c0013others(18): Show | a0008c0010t0001a0008c0125t0001a0009c0013t0002others(18): Show | a0008c0010t0001g0026 a0008c0010t0001g0064 a0008c0010t0001g0131 others(25): Show |
37 | 424 | 0.0873 | 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 |
a0008a0009a0022others(15): Show | a0008c0010a0008c0125a0009c0013others(18): Show | a0008c0010t0001a0008c0125t0001a0009c0013t0002others(18): Show | a0008c0010t0001g0026 a0008c0010t0001g0064 a0008c0010t0001g0131 others(25): Show |
37 | 424 | 0.0873 | 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 |
a0008a0009a0022others(15): Show | a0008c0010a0008c0125a0009c0013others(18): Show | a0008c0010t0001a0008c0125t0001a0009c0013t0002others(18): Show | a0008c0010t0001g0026 a0008c0010t0001g0064 a0008c0010t0001g0131 others(25): Show |
37 | 424 | 0.0873 | 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 | a0061 | a0061c0126 | a0061c0126t0001 | a0061c0126t0001g0146 | 1 | 424 | 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 |