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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM236B_chrX_72776865_72787660 | 72777021 | C | CCTCCTCC others(32): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 87 | 0.0115 | 39 | c.*49 others(50): Show |
FAM236B | ENSG00000268994.3 | transcript | ENST00000596535.3 | protein_coding | 4843 | chrX | TogoVar | |||||||
FAM241A_chr4_112140454_112200256 | 112197333 | T | TAAAAAAA others(32): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG01928.hp2 HG02300.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0127 others(2): Show |
8 | 15 | 0.5333 | 39 | c.*10 others(52): Show |
FAM241A | ENSG00000174749.6 | transcript | ENST00000309733.6 | protein_coding | 2078 | chr4 | TogoVar | |||||||
FAM47A_chrX_34124752_34137314 | 34130688 | C | CGAGACTG others(32): Show |
conservative_inframe_insertion | MODERATE | HG02818.hp2 HG03195.hp1 |
a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0000 | 2 | 295 | 0.0068 | 39 | c.155 others(48): Show |
p.Leu others(52): Show |
FAM47A | ENSG00000185448.12 | transcript | ENST00000346193.5 | protein_coding | 1/1 | 1626/2563 | 1590/2376 | 530/791 | chrX | TogoVar | |||
FAM83H_chr8_143718933_143738779 | 143723150 | G | GGGCGCGG others(32): Show |
downstream_gene_variant | MODIFIER | NA19082.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0002 | 1 | 396 | 0.0025 | 39 | c.*27 others(50): Show |
FAM83H | ENSG00000180921.7 | transcript | ENST00000388913.4 | protein_coding | 782 | chr8 | TogoVar | |||||||
FAM86B2_chr8_12419421_12441400 | 12436505 | A | AGATGAAC others(32): Show |
upstream_gene_variant | MODIFIER | HG03490.hp1 NA18950.hp1 |
a0006 | a0006c0006 | a0006c0006t0008 | a0006c0006t0008g0001 | 2 | 50 | 0.0400 | 39 | c.-16 others(48): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 106 | chr8 | TogoVar | |||||||
FAM9B_chrX_9019232_9039127 | 9022351 | A | ATGTATAA others(32): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0036 | 1 | 219 | 0.0046 | 39 | c.*30 others(50): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 1880 | chrX | TogoVar | |||||||
FARP1_chr13_98138094_98460176 | 98404043 | A | ACATCACC others(32): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0115 | 1 | 155 | 0.0065 | 39 | c.141 others(58): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5392930 | A | ATGTGTGT others(32): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 102 | 0.0098 | 39 | c.613 others(58): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5407066 | T | TATATATA others(32): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 106 | 0.0094 | 39 | c.772 others(56): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAT1_chr4_186582794_186728856 | 186723801 | T | TCCCGCGC others(32): Show |
5_prime_UTR_variant | MODIFIER | HG03579.hp1 | a0040 | a0040c0034 | a0040c0034t0060 | a0040c0034t0060g0336 | 1 | 288 | 0.0035 | 39 | c.-15 others(48): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 1/27 | 13975 | chr4 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92478953 | T | TCTCTTTC others(32): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03098.hp1 NA18522.hp2 |
a0004a0032a0035 | a0004c0012a0032c0082a0035c0040 | a0004c0012t0002a0032c0082t0073a0035c0040t0002 | a0004c0012t0002g0052 a0032c0082t0073g0013 a0035c0040t0002g0115 |
3 | 79 | 0.0380 | 39 | c.329 others(60): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | chr11 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92478953 | T | TTTCTTTC others(32): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0009 | a0009c0021 | a0009c0021t0023 | a0009c0021t0023g0099 | 1 | 77 | 0.0130 | 39 | c.329 others(60): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FBLN7_chr2_112133385_112193218 | 112167869 | C | CGTTATGT others(32): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02074.hp2 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0213 a0001c0001t0001g0219 a0001c0001t0001g0280 others(1): Show |
4 | 45 | 0.0889 | 39 | c.406 others(56): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128539884 | T | TCATATAT others(32): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(76): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0021others(14): Show | a0001c0001t0001a0001c0001t0030a0001c0003t0001others(20): Show | a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0141 others(76): Show |
79 | 141 | 0.5603 | 39 | c.-22 others(50): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1640 | chr5 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128539967 | T | TATATATC others(32): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG02886.hp1 HG03139.hp1 |
a0001a0003 | a0001c0003a0001c0008a0003c0059 | a0001c0003t0005a0001c0008t0029a0003c0059t0005 | a0001c0003t0005g0099 a0001c0008t0029g0116 a0003c0059t0005g0091 |
3 | 206 | 0.0146 | 39 | c.-23 others(50): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1723 | chr5 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128539992 | T | TATATATC others(32): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0013 | 1 | 190 | 0.0053 | 39 | c.-23 others(50): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1748 | chr5 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128539992 | T | TATATATC others(32): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0009 | a0009c0063 | a0009c0063t0012 | a0009c0063t0012g0095 | 1 | 190 | 0.0053 | 39 | c.-23 others(50): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1748 | chr5 | TogoVar | |||||||
FBN3_chr19_8060402_8154592 | 8130636 | G | GGAAGGAA others(32): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0117 | a0117c0180 | a0117c0180t0001 | a0117c0180t0001g0231 | 1 | 146 | 0.0068 | 39 | c.204 others(56): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar | |||||||
FBN3_chr19_8060402_8154592 | 8130636 | G | GGAAGGAA others(32): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0019 | a0019c0014 | a0019c0014t0002 | a0019c0014t0002g0050 | 1 | 146 | 0.0068 | 39 | c.204 others(56): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar | |||||||
FBN3_chr19_8060402_8154592 | 8130636 | G | GGAAGGAA others(32): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0003 | a0003c0074 | a0003c0074t0001 | a0003c0074t0001g0093 | 1 | 146 | 0.0068 | 39 | c.204 others(56): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar | |||||||
FBRSL1_chr12_132485151_132590188 | 132550045 | C | CGAGTTTG others(32): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02027.hp1 HG02040.hp2 others(19): Show |
a0002a0006a0010others(6): Show | a0002c0081a0006c0013a0010c0010others(6): Show | a0002c0081t0001a0006c0013t0004a0010c0010t0004others(10): Show | a0002c0081t0001g0341 a0006c0013t0004g0314 a0006c0013t0004g0319 others(19): Show |
22 | 346 | 0.0636 | 39 | c.645 others(56): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132562572 | C | CCCCTGCC others(32): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01074.hp2 HG01109.hp2 others(19): Show |
a0001a0002a0004others(5): Show | a0001c0005a0001c0006a0002c0004others(8): Show | a0001c0005t0004a0001c0005t0008a0001c0006t0006others(11): Show | a0001c0005t0004g0100 a0001c0005t0004g0112 a0001c0005t0008g0141 others(19): Show |
22 | 346 | 0.0636 | 39 | c.646 others(56): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FBXL17_chr5_107854035_108387098 | 107980664 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0131 | 1 | 54 | 0.0185 | 39 | c.182 others(60): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
FBXL17_chr5_107854035_108387098 | 107980664 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0096 | 1 | 54 | 0.0185 | 39 | c.182 others(60): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
FBXL17_chr5_107854035_108387098 | 107980664 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | HG02132.hp1 HG03831.hp1 NA18970.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0006a0001c0002t0013others(1): Show | a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0002t0006g0209 others(2): Show |
5 | 58 | 0.0862 | 39 | c.182 others(60): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
FBXL17_chr5_107854035_108387098 | 107980664 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | HG01934.hp2 NA18965.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0019 | a0001c0001t0001g0152 a0001c0002t0019g0013 |
2 | 55 | 0.0364 | 39 | c.182 others(60): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
FBXL17_chr5_107854035_108387098 | 107980664 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0237 | 1 | 54 | 0.0185 | 39 | c.182 others(60): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
FBXL17_chr5_107854035_108387098 | 107980664 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01934.hp1 HG01978.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0002g0165 a0001c0001t0002g0172 a0001c0001t0003g0164 others(5): Show |
8 | 61 | 0.1311 | 39 | c.182 others(60): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
FBXL17_chr5_107854035_108387098 | 107980664 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | HG01258.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 a0001c0001t0001g0163 |
2 | 55 | 0.0364 | 39 | c.182 others(60): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
FBXL17_chr5_107854035_108387098 | 107980664 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 54 | 0.0185 | 39 | c.182 others(60): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
FBXL17_chr5_107854035_108387098 | 108232794 | T | TATATATA others(32): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0127 | 1 | 235 | 0.0043 | 39 | c.150 others(58): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 4/8 | chr5 | TogoVar | |||||||
FBXO25_chr8_401958_482967 | 477744 | C | CCATCCGC others(32): Show |
3_prime_UTR_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0002 | a0002c0002t0080 | a0002c0002t0080g0153 | 1 | 410 | 0.0024 | 39 | c.*89 others(50): Show |
FBXO25 | ENSG00000147364.17 | transcript | ENST00000350302.8 | protein_coding | 10/10 | 8941 | chr8 | TogoVar | ||||||
FBXO27_chr19_39019021_39037549 | 39031684 | C | CCTCCGAC others(32): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 422 | 0.0024 | 39 | c.364 others(54): Show |
FBXO27 | ENSG00000161243.10 | transcript | ENST00000292853.9 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
FBXO27_chr19_39019021_39037549 | 39031690 | G | GCACCTCA others(32): Show |
intron_variant | MODIFIER | HG01358.hp1 NA18945.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 2 | 230 | 0.0087 | 39 | c.364 others(54): Show |
FBXO27 | ENSG00000161243.10 | transcript | ENST00000292853.9 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
FBXO34_chr14_55266421_55358611 | 55323218 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0171 | 1 | 80 | 0.0125 | 39 | c.-10 others(58): Show |
FBXO34 | ENSG00000178974.11 | transcript | ENST00000313833.5 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
FBXO34_chr14_55266421_55358611 | 55323226 | T | TATATATA others(32): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0179 | 1 | 156 | 0.0064 | 39 | c.-10 others(58): Show |
FBXO34 | ENSG00000178974.11 | transcript | ENST00000313833.5 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
FBXO34_chr14_55266421_55358611 | 55338048 | C | CTTTTTTT others(32): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0188 a0001c0001t0004g0180 |
2 | 135 | 0.0148 | 39 | c.-10 others(58): Show |
FBXO34 | ENSG00000178974.11 | transcript | ENST00000313833.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FBXO42_chr1_16241840_16357480 | 16350757 | A | AAAGAAAG others(32): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 26 | 0.0385 | 39 | c.-18 others(56): Show |
FBXO42 | ENSG00000037637.11 | transcript | ENST00000375592.8 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
FCGR1A_chr1_149777694_149796675 | 149785733 | C | CCAGGCGT others(32): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 412 | 0.0024 | 39 | c.307 others(56): Show |
FCGR1A | ENSG00000150337.14 | transcript | ENST00000369168.5 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
FCN1_chr9_134898232_134922912 | 134905810 | C | CTCTTCTT others(32): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG02155.hp2 HG03654.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0045a0001c0001t0177a0001c0001t0197others(3): Show | a0001c0001t0045g0085 a0001c0001t0045g0137 a0001c0001t0177g0090 others(4): Show |
7 | 243 | 0.0288 | 39 | c.*39 others(50): Show |
FCN1 | ENSG00000085265.12 | transcript | ENST00000371806.4 | protein_coding | 9/9 | 3987 | chr9 | TogoVar | ||||||
FCN1_chr9_134898232_134922912 | 134905822 | T | TTCTTCTT others(32): Show |
3_prime_UTR_variant | MODIFIER | NA19070.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0206a0001c0001t0207 | a0001c0001t0206g0130 a0001c0001t0207g0111 |
2 | 367 | 0.0054 | 39 | c.*39 others(50): Show |
FCN1 | ENSG00000085265.12 | transcript | ENST00000371806.4 | protein_coding | 9/9 | 3975 | chr9 | TogoVar | ||||||
FCN1_chr9_134898232_134922912 | 134905919 | T | TCTTCTCC others(32): Show |
3_prime_UTR_variant | MODIFIER | HG02572.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0064a0001c0001t0069 | a0001c0001t0064g0227 a0001c0001t0069g0250 |
2 | 213 | 0.0094 | 39 | c.*38 others(50): Show |
FCN1 | ENSG00000085265.12 | transcript | ENST00000371806.4 | protein_coding | 9/9 | 3878 | chr9 | TogoVar | ||||||
FERMT2_chr14_52852273_52956050 | 52902868 | C | CAAAAAAA others(32): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 53 | 0.0189 | 39 | c.392 others(56): Show |
FERMT2 | ENSG00000073712.15 | transcript | ENST00000341590.8 | protein_coding | 3/14 | chr14 | TogoVar | |||||||
FER_chr5_108742897_109201841 | 108927252 | C | CTTTTTTT others(32): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0006 | a0001c0006t0047 | a0001c0006t0047g0004 | 1 | 32 | 0.0313 | 39 | c.123 others(60): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FER_chr5_108742897_109201841 | 109146253 | A | AATATATA others(32): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0046 a0001c0001t0005g0084 |
2 | 46 | 0.0435 | 39 | c.204 others(60): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FGD4_chr12_32394558_32651050 | 32599494 | C | CAAAAAAA others(32): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0157 | 1 | 134 | 0.0075 | 39 | c.110 others(56): Show |
FGD4 | ENSG00000139132.16 | transcript | ENST00000534526.7 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FGD6_chr12_95071749_95222467 | 95149124 | A | ATTATATA others(32): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01070.hp1 HG01071.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0021others(1): Show | a0001c0001t0001g0115 a0001c0001t0006g0095 a0001c0001t0006g0098 others(7): Show |
10 | 343 | 0.0292 | 39 | c.268 others(58): Show |
FGD6 | ENSG00000180263.14 | transcript | ENST00000343958.9 | protein_coding | 5/20 | chr12 | TogoVar | |||||||
FGD6_chr12_95071749_95222467 | 95149205 | T | TATTATAT others(32): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 329 | 0.0030 | 39 | c.268 others(58): Show |
FGD6 | ENSG00000180263.14 | transcript | ENST00000343958.9 | protein_coding | 5/20 | chr12 | TogoVar | |||||||
FGF11_chr17_7434512_7449937 | 7441765 | T | TCCACCTG others(32): Show |
disruptive_inframe_insertion others(1): Show |
MODERATE | HG00408.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0026 | 1 | 348 | 0.0029 | 39 | c.305 others(48): Show |
p.Thr others(51): Show |
FGF11 | ENSG00000161958.11 | transcript | ENST00000293829.9 | protein_coding | 3/5 | 414/2578 | 305/678 | 102/225 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
FGF12_chr3_192134390_192732541 | 192158675 | T | TTCCTTCT others(32): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0004 | 1 | 70 | 0.0143 | 39 | c.427 others(58): Show |
FGF12 | ENSG00000114279.15 | transcript | ENST00000445105.7 | protein_coding | 5/5 | chr3 | TogoVar |