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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FARP2_chr2_241351285_241499841 | 241402881 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 378 | 0.0027 | 15 | c.184 others(30): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 2/26 | chr2 | TogoVar | |||||||
FARS2_chr6_5256513_5776583 | 5341235 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 170 | 0.0059 | 15 | c.-21 others(34): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5341235 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158 | 1 | 170 | 0.0059 | 15 | c.-21 others(34): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5405480 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 170 | 0.0059 | 15 | c.772 others(30): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5532771 | T | TAAGAAGA others(8): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 170 | 0.0059 | 15 | c.905 others(34): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5532774 | T | TAAGAAGA others(8): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0134 | 1 | 170 | 0.0059 | 15 | c.905 others(34): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5532780 | T | TAAGAAGA others(8): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 170 | 0.0059 | 15 | c.905 others(34): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5546929 | G | GTTATTTT others(8): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0002g0098 a0001c0001t0002g0106 |
3 | 170 | 0.0177 | 15 | c.106 others(34): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARSA_chr19_12917479_12938711 | 12920124 | C | CACACACA others(8): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 HG01361.hp1 HG02074.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 |
4 | 346 | 0.0116 | 15 | c.*26 others(26): Show |
FARSA | ENSG00000179115.11 | transcript | ENST00000314606.9 | protein_coding | 2354 | chr19 | TogoVar | |||||||
FARSA_chr19_12917479_12938711 | 12920125 | A | ACACACAC others(8): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00558.hp1 others(56): Show |
a0001a0006 | a0001c0001a0006c0018 | a0001c0001t0001a0001c0001t0002a0006c0018t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(24): Show |
59 | 346 | 0.1705 | 15 | c.*26 others(26): Show |
FARSA | ENSG00000179115.11 | transcript | ENST00000314606.9 | protein_coding | 2353 | chr19 | TogoVar | |||||||
FARSB_chr2_222561899_222661092 | 222562385 | T | TGTAAGTG others(8): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0302 a0001c0001t0011g0303 |
2 | 344 | 0.0058 | 15 | c.*94 others(26): Show |
FARSB | ENSG00000116120.11 | transcript | ENST00000281828.8 | protein_coding | 4513 | chr2 | TogoVar | |||||||
FARSB_chr2_222561899_222661092 | 222605161 | T | TCTCTCTC others(8): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02027.hp2 HG03942.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0035 a0001c0001t0001g0120 a0001c0001t0001g0141 others(3): Show |
6 | 344 | 0.0174 | 15 | c.146 others(34): Show |
FARSB | ENSG00000116120.11 | transcript | ENST00000281828.8 | protein_coding | 15/16 | chr2 | TogoVar | |||||||
FASTKD2_chr2_206760606_206801189 | 206793220 | C | CAAAAAAA others(8): Show |
3_prime_UTR_variant | MODIFIER | NA18940.hp1 NA18941.hp1 NA18947.hp2 |
a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0009 a0002c0002t0022g0027 a0002c0002t0022g0066 |
3 | 394 | 0.0076 | 15 | c.*14 others(26): Show |
FASTKD2 | ENSG00000118246.14 | transcript | ENST00000402774.8 | protein_coding | 12/12 | 1450 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FASTK_chr7_151071624_151085809 | 151073252 | C | CTTTATTT others(8): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00597.hp2 others(51): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0002g0002 others(4): Show |
54 | 420 | 0.1286 | 15 | c.*34 others(26): Show |
FASTK | ENSG00000164896.21 | transcript | ENST00000297532.11 | protein_coding | 3371 | chr7 | TogoVar | |||||||
FASTK_chr7_151071624_151085809 | 151073289 | T | TTATTTTA others(8): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02280.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 11 | 420 | 0.0262 | 15 | c.*34 others(26): Show |
FASTK | ENSG00000164896.21 | transcript | ENST00000297532.11 | protein_coding | 3334 | chr7 | TogoVar | |||||||
FAT1_chr4_186582794_186728856 | 186682526 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01099.hp2 HG01433.hp2 others(17): Show |
a0001a0002a0003others(14): Show | a0001c0001a0002c0155a0003c0002others(14): Show | a0001c0001t0002a0002c0155t0016a0003c0002t0009others(16): Show | a0001c0001t0002g0169 a0002c0155t0016g0140 a0003c0002t0009g0305 others(17): Show |
20 | 338 | 0.0592 | 15 | c.326 others(36): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 2/26 | chr4 | TogoVar | |||||||
FAT2_chr5_151499092_151596331 | 151518348 | C | CTAATAAT others(8): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02055.hp2 HG02818.hp1 others(4): Show |
a0002a0010a0013others(2): Show | a0002c0001a0010c0011a0013c0035others(2): Show | a0002c0001t0017a0010c0011t0001a0013c0035t0010others(2): Show | a0002c0001t0017g0009 a0010c0011t0001g0032 a0010c0011t0001g0034 others(4): Show |
7 | 398 | 0.0176 | 15 | c.113 others(34): Show |
FAT2 | ENSG00000086570.13 | transcript | ENST00000261800.6 | protein_coding | 19/23 | chr5 | TogoVar | |||||||
FAT2_chr5_151499092_151596331 | 151518362 | A | AATTATTA others(8): Show |
intron_variant | MODIFIER | HG00609.hp1 NA18939.hp2 NA18943.hp2 others(3): Show |
a0002a0009a0018 | a0002c0001a0009c0008a0018c0027others(1): Show | a0002c0001t0001a0002c0001t0002a0009c0008t0001others(2): Show | a0002c0001t0001g0132 a0002c0001t0002g0361 a0009c0008t0001g0195 others(3): Show |
6 | 398 | 0.0151 | 15 | c.113 others(34): Show |
FAT2 | ENSG00000086570.13 | transcript | ENST00000261800.6 | protein_coding | 19/23 | chr5 | TogoVar | |||||||
FAT2_chr5_151499092_151596331 | 151518365 | A | AATTATTA others(8): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00673.hp2 others(48): Show |
a0001a0002a0003others(12): Show | a0001c0003a0001c0004a0001c0010others(24): Show | a0001c0003t0001a0001c0003t0002a0001c0004t0001others(28): Show | a0001c0003t0001g0123 a0001c0003t0001g0147 a0001c0003t0001g0183 others(45): Show |
51 | 398 | 0.1281 | 15 | c.113 others(34): Show |
FAT2 | ENSG00000086570.13 | transcript | ENST00000261800.6 | protein_coding | 19/23 | chr5 | TogoVar | |||||||
FAT2_chr5_151499092_151596331 | 151518368 | A | AATTATTA others(8): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00609.hp2 others(108): Show |
a0001a0002a0003others(24): Show | a0001c0003a0001c0004a0001c0010others(51): Show | a0001c0003t0001a0001c0003t0012a0001c0003t0020others(61): Show | a0001c0003t0001g0013 a0001c0003t0001g0121 a0001c0003t0001g0204 others(106): Show |
111 | 398 | 0.2789 | 15 | c.113 others(34): Show |
FAT2 | ENSG00000086570.13 | transcript | ENST00000261800.6 | protein_coding | 19/23 | chr5 | TogoVar | |||||||
FAT2_chr5_151499092_151596331 | 151518371 | A | AATTATTA others(8): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01261.hp1 HG01891.hp2 others(36): Show |
a0001a0002a0003others(4): Show | a0001c0004a0001c0010a0001c0016others(23): Show | a0001c0004t0001a0001c0010t0001a0001c0016t0001others(30): Show | a0001c0004t0001g0253 a0001c0004t0001g0284 a0001c0010t0001g0212 others(36): Show |
39 | 398 | 0.0980 | 15 | c.113 others(34): Show |
FAT2 | ENSG00000086570.13 | transcript | ENST00000261800.6 | protein_coding | 19/23 | chr5 | TogoVar | |||||||
FAT2_chr5_151499092_151596331 | 151518374 | A | AATTATTA others(8): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02135.hp2 HG02165.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0004a0002c0001a0002c0006others(2): Show | a0001c0004t0001a0002c0001t0002a0002c0006t0002others(2): Show | a0001c0004t0001g0265 a0002c0001t0002g0345 a0002c0006t0002g0367 others(3): Show |
6 | 398 | 0.0151 | 15 | c.113 others(34): Show |
FAT2 | ENSG00000086570.13 | transcript | ENST00000261800.6 | protein_coding | 19/23 | chr5 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92267052 | A | ACACTGCC others(8): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01099.hp1 HG01169.hp2 others(28): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0006others(25): Show | a0001c0001t0078a0001c0001t0079a0001c0001t0081others(28): Show | a0001c0001t0078g0009 a0001c0001t0079g0003 a0001c0001t0081g0002 others(28): Show |
31 | 118 | 0.2627 | 15 | c.-18 others(34): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92442111 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0024 | a0024c0037 | a0024c0037t0056 | a0024c0037t0056g0100 | 1 | 118 | 0.0085 | 15 | c.329 others(36): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92442111 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0042 | a0042c0055 | a0042c0055t0025 | a0042c0055t0025g0040 | 1 | 118 | 0.0085 | 15 | c.329 others(36): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92478948 | C | CTTTCTTT others(8): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0038 | 1 | 118 | 0.0085 | 15 | c.329 others(36): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92478953 | T | TTTCTTTC others(8): Show |
intron_variant | MODIFIER | HG00673.hp1 NA19060.hp1 |
a0012a0013 | a0012c0023a0013c0018 | a0012c0023t0003a0013c0018t0063 | a0012c0023t0003g0092 a0013c0018t0063g0012 |
2 | 118 | 0.0170 | 15 | c.329 others(36): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92551414 | T | TTGTTTTG others(8): Show |
intron_variant | MODIFIER | HG02922.hp1 HG04115.hp1 |
a0001a0004 | a0001c0053a0004c0009 | a0001c0053t0040a0004c0009t0001 | a0001c0053t0040g0050 a0004c0009t0001g0098 |
2 | 118 | 0.0170 | 15 | c.360 others(36): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92551445 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0048 | a0048c0056 | a0048c0056t0075 | a0048c0056t0075g0023 | 1 | 118 | 0.0085 | 15 | c.360 others(36): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 3/27 | chr11 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92608720 | C | CAATAATA others(8): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02809.hp1 HG02886.hp1 others(4): Show |
a0001a0003a0013others(1): Show | a0001c0050a0003c0010a0003c0019others(4): Show | a0001c0050t0085a0003c0010t0026a0003c0019t0058others(4): Show | a0001c0050t0085g0022 a0003c0010t0026g0048 a0003c0019t0058g0110 others(4): Show |
7 | 118 | 0.0593 | 15 | c.360 others(36): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92705542 | T | TGTGATGG others(8): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0039 | a0039c0070 | a0039c0070t0046 | a0039c0070t0046g0056 | 1 | 118 | 0.0085 | 15 | c.366 others(34): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92754627 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02965.hp2 NA20300.hp2 |
a0017a0031a0049 | a0017c0071a0031c0057a0049c0059 | a0017c0071t0001a0031c0057t0070a0049c0059t0044 | a0017c0071t0001g0031 a0031c0057t0070g0021 a0049c0059t0044g0082 |
3 | 118 | 0.0254 | 15 | c.367 others(34): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAXDC2_chr5_154813492_154855603 | 154825650 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01123.hp1 HG01516.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012 | a0001c0001t0001g0166 a0001c0001t0002g0013 a0001c0001t0002g0014 others(17): Show |
22 | 310 | 0.0710 | 15 | c.367 others(32): Show |
FAXDC2 | ENSG00000170271.11 | transcript | ENST00000326080.10 | protein_coding | 5/8 | chr5 | TogoVar | |||||||
FAXDC2_chr5_154813492_154855603 | 154825668 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02615.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0044 a0001c0001t0004g0046 a0001c0001t0004g0047 |
3 | 310 | 0.0097 | 15 | c.367 others(32): Show |
FAXDC2 | ENSG00000170271.11 | transcript | ENST00000326080.10 | protein_coding | 5/8 | chr5 | TogoVar | |||||||
FBLIM1_chr1_15753795_15791589 | 15787953 | A | ATATATAT others(8): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0040 | 1 | 354 | 0.0028 | 15 | c.*32 others(26): Show |
FBLIM1 | ENSG00000162458.13 | transcript | ENST00000375766.8 | protein_coding | 1365 | chr1 | TogoVar | |||||||
FBLIM1_chr1_15753795_15791589 | 15787959 | A | ATATATAT others(8): Show |
downstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 354 | 0.0028 | 15 | c.*32 others(26): Show |
FBLIM1 | ENSG00000162458.13 | transcript | ENST00000375766.8 | protein_coding | 1371 | chr1 | TogoVar | |||||||
FBLIM1_chr1_15753795_15791589 | 15787963 | A | AAAAAAAT others(8): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0262 | 1 | 354 | 0.0028 | 15 | c.*33 others(26): Show |
FBLIM1 | ENSG00000162458.13 | transcript | ENST00000375766.8 | protein_coding | 1375 | chr1 | TogoVar | |||||||
FBLIM1_chr1_15753795_15791589 | 15787963 | A | AAAAATAT others(8): Show |
downstream_gene_variant | MODIFIER | HG02738.hp2 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0127 |
2 | 354 | 0.0057 | 15 | c.*33 others(26): Show |
FBLIM1 | ENSG00000162458.13 | transcript | ENST00000375766.8 | protein_coding | 1375 | chr1 | TogoVar | |||||||
FBLL1_chr5_168524305_168535634 | 168524976 | A | ATATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 NA18906.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 2 | 460 | 0.0044 | 15 | c.-45 others(26): Show |
FBLL1 | ENSG00000188573.8 | transcript | ENST00000338333.5 | protein_coding | 4328 | chr5 | TogoVar | |||||||
FBLN1_chr22_45497883_45606135 | 45508286 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(60): Show |
a0001a0011 | a0001c0001a0001c0002a0011c0019 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(60): Show |
63 | 346 | 0.1821 | 15 | c.79+ others(30): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FBLN1_chr22_45497883_45606135 | 45534292 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00544.hp2 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 a0001c0001t0001g0091 |
2 | 346 | 0.0058 | 15 | c.784 others(30): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FBLN1_chr22_45497883_45606135 | 45569642 | A | AAAGAAGA others(8): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 346 | 0.0029 | 15 | c.169 others(34): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FBLN2_chr3_13544125_13643404 | 13610897 | A | AATTATTA others(8): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02015.hp1 others(2): Show |
a0001 | a0001c0004a0001c0022a0001c0033 | a0001c0004t0001a0001c0022t0004a0001c0033t0005 | a0001c0004t0001g0222 a0001c0004t0001g0236 a0001c0022t0004g0172 others(2): Show |
5 | 312 | 0.0160 | 15 | c.154 others(34): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FBLN2_chr3_13544125_13643404 | 13612294 | C | CTTTCTTT others(8): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02258.hp2 NA18967.hp1 |
a0005a0007 | a0005c0008a0007c0073 | a0005c0008t0004a0007c0073t0001 | a0005c0008t0004g0284 a0005c0008t0004g0289 a0007c0073t0001g0215 |
3 | 312 | 0.0096 | 15 | c.154 others(34): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 4/17 | chr3 | TogoVar | |||||||
FBLN2_chr3_13544125_13643404 | 13633954 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0117 | 1 | 312 | 0.0032 | 15 | c.321 others(34): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 16/17 | chr3 | TogoVar | |||||||
FBLN7_chr2_112133385_112193218 | 112134876 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 346 | 0.0029 | 15 | c.-37 others(26): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 3508 | chr2 | TogoVar | |||||||
FBLN7_chr2_112133385_112193218 | 112167869 | C | CGTTATGT others(8): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00642.hp1 HG00673.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0102 others(25): Show |
34 | 346 | 0.0983 | 15 | c.406 others(32): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FBN1_chr15_48403313_48650709 | 48417469 | T | TTCCTTCC others(8): Show |
intron_variant | MODIFIER | HG03654.hp1 HG03831.hp1 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0068 a0001c0004t0004g0069 |
2 | 288 | 0.0069 | 15 | c.782 others(34): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | TogoVar | |||||||
FBN1_chr15_48403313_48650709 | 48568022 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0208 | 1 | 288 | 0.0035 | 15 | c.538 others(34): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | TogoVar | |||||||
FBN1_chr15_48403313_48650709 | 48568046 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 288 | 0.0035 | 15 | c.538 others(34): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | TogoVar |