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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FARS2_chr6_5256513_5776583 | 5539384 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02809.hp1 HG02818.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0002 | a0001c0001t0001g0007 a0001c0001t0002g0104 a0001c0001t0002g0119 others(1): Show |
4 | 170 | 0.0235 | 18 | c.905 others(35): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5539384 | G | GTGTATAT others(11): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03486.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0001 | a0001c0001t0002g0113 a0001c0005t0001g0002 |
2 | 170 | 0.0118 | 18 | c.905 others(35): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5584108 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG01109.hp1 others(13): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0044 others(13): Show |
16 | 170 | 0.0941 | 18 | c.106 others(39): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5717927 | T | TAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01243.hp1 HG01361.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0054 a0001c0001t0001g0069 a0001c0001t0002g0145 others(2): Show |
5 | 170 | 0.0294 | 18 | c.121 others(39): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5717929 | T | TAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01106.hp2 HG01175.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0053 others(11): Show |
14 | 170 | 0.0824 | 18 | c.121 others(39): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5717931 | T | TAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01934.hp1 HG02451.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0016 a0001c0001t0001g0063 a0001c0001t0001g0085 others(5): Show |
8 | 170 | 0.0471 | 18 | c.121 others(39): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5719442 | G | GAGAGAAA others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(113): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(113): Show |
116 | 170 | 0.6824 | 18 | c.121 others(39): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARSA_chr19_12917479_12938711 | 12920094 | T | TACACACA others(11): Show |
downstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 346 | 0.0029 | 18 | c.*26 others(29): Show |
FARSA | ENSG00000179115.11 | transcript | ENST00000314606.9 | protein_coding | 2384 | chr19 | TogoVar | |||||||
FARSA_chr19_12917479_12938711 | 12920096 | T | TACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG00741.hp1 others(18): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0003 | a0001c0001t0001a0001c0002t0001a0003c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0111 others(9): Show |
21 | 346 | 0.0607 | 18 | c.*26 others(29): Show |
FARSA | ENSG00000179115.11 | transcript | ENST00000314606.9 | protein_coding | 2382 | chr19 | TogoVar | |||||||
FARSB_chr2_222561899_222661092 | 222605161 | T | TTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01106.hp2 HG01975.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0001g0099 a0001c0001t0001g0121 a0001c0001t0001g0143 others(11): Show |
15 | 344 | 0.0436 | 18 | c.146 others(37): Show |
FARSB | ENSG00000116120.11 | transcript | ENST00000281828.8 | protein_coding | 15/16 | chr2 | TogoVar | |||||||
FARSB_chr2_222561899_222661092 | 222612730 | C | CAATGCAC others(11): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0294 | 1 | 344 | 0.0029 | 18 | c.146 others(37): Show |
FARSB | ENSG00000116120.11 | transcript | ENST00000281828.8 | protein_coding | 15/16 | chr2 | TogoVar | |||||||
FARSB_chr2_222561899_222661092 | 222632023 | G | GATGGTGC others(11): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01361.hp1 HG01884.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0093 a0001c0001t0005g0306 a0001c0001t0005g0307 others(11): Show |
14 | 344 | 0.0407 | 18 | c.716 others(33): Show |
FARSB | ENSG00000116120.11 | transcript | ENST00000281828.8 | protein_coding | 7/16 | chr2 | TogoVar | |||||||
FASTKD1_chr2_169523508_169578865 | 169561716 | A | ATTATTCA others(11): Show |
intron_variant | MODIFIER | NA18945.hp1 NA18947.hp1 NA18955.hp1 others(4): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0002a0002c0004t0001 | a0002c0002t0002g0319 a0002c0002t0002g0328 a0002c0002t0002g0329 others(4): Show |
7 | 392 | 0.0179 | 18 | c.573 others(33): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 4/14 | chr2 | TogoVar | |||||||
FASTKD1_chr2_169523508_169578865 | 169561778 | T | TTTATTAA others(11): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0139 | 1 | 392 | 0.0026 | 18 | c.573 others(34): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 4/14 | chr2 | TogoVar | |||||||
FASTKD1_chr2_169523508_169578865 | 169562002 | T | TTAATTTA others(11): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02615.hp2 HG02723.hp2 others(2): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0302 a0001c0006t0001g0303 a0001c0006t0001g0304 others(2): Show |
5 | 392 | 0.0128 | 18 | c.573 others(35): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 4/14 | chr2 | TogoVar | |||||||
FASTKD1_chr2_169523508_169578865 | 169562028 | T | TTAATTTA others(11): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0306 | 1 | 392 | 0.0026 | 18 | c.572 others(35): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 4/14 | chr2 | TogoVar | |||||||
FASTKD1_chr2_169523508_169578865 | 169576139 | A | AGGGAGAG others(11): Show |
upstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0318 | 1 | 392 | 0.0026 | 18 | c.-26 others(29): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 2275 | chr2 | TogoVar | |||||||
FAT1_chr4_186582794_186728856 | 186646004 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0026 | a0026c0022 | a0026c0022t0029 | a0026c0022t0029g0093 | 1 | 338 | 0.0030 | 18 | c.358 others(37): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 3/26 | chr4 | TogoVar | |||||||
FAT1_chr4_186582794_186728856 | 186651051 | A | AAATAATT others(11): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0036 | a0036c0146 | a0036c0146t0006 | a0036c0146t0006g0030 | 1 | 338 | 0.0030 | 18 | c.358 others(39): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 3/26 | chr4 | TogoVar | |||||||
FAT2_chr5_151499092_151596331 | 151518365 | A | AATTATTA others(11): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01891.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0001c0017others(4): Show | a0001c0003t0001a0001c0004t0002a0001c0017t0001others(4): Show | a0001c0003t0001g0313 a0001c0004t0002g0380 a0001c0017t0001g0279 others(4): Show |
8 | 398 | 0.0201 | 18 | c.113 others(37): Show |
FAT2 | ENSG00000086570.13 | transcript | ENST00000261800.6 | protein_coding | 19/23 | chr5 | TogoVar | |||||||
FAT2_chr5_151499092_151596331 | 151518368 | A | AATTATTA others(11): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02080.hp2 NA18954.hp1 others(10): Show |
a0001a0002a0003others(5): Show | a0001c0004a0001c0021a0001c0032others(9): Show | a0001c0004t0001a0001c0021t0008a0001c0032t0008others(9): Show | a0001c0004t0001g0255 a0001c0004t0001g0256 a0001c0021t0008g0122 others(10): Show |
13 | 398 | 0.0327 | 18 | c.113 others(37): Show |
FAT2 | ENSG00000086570.13 | transcript | ENST00000261800.6 | protein_coding | 19/23 | chr5 | TogoVar | |||||||
FAT2_chr5_151499092_151596331 | 151518371 | A | AATTATTA others(11): Show |
intron_variant | MODIFIER | NA18959.hp1 NA19072.hp2 |
a0001a0076 | a0001c0021a0076c0060 | a0001c0021t0002a0076c0060t0001 | a0001c0021t0002g0374 a0076c0060t0001g0272 |
2 | 398 | 0.0050 | 18 | c.113 others(37): Show |
FAT2 | ENSG00000086570.13 | transcript | ENST00000261800.6 | protein_coding | 19/23 | chr5 | TogoVar | |||||||
FAT2_chr5_151499092_151596331 | 151534970 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02647.hp1 HG02922.hp2 others(5): Show |
a0001a0002a0003others(3): Show | a0001c0003a0002c0006a0003c0029others(4): Show | a0001c0003t0001a0002c0006t0005a0003c0029t0005others(4): Show | a0001c0003t0001g0147 a0002c0006t0005g0163 a0003c0029t0005g0291 others(5): Show |
8 | 398 | 0.0201 | 18 | c.919 others(35): Show |
FAT2 | ENSG00000086570.13 | transcript | ENST00000261800.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92229492 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03041.hp1 HG03139.hp2 |
a0007a0033a0036 | a0007c0077a0033c0026a0036c0027 | a0007c0077t0012a0033c0026t0055a0036c0027t0021 | a0007c0077t0012g0081 a0033c0026t0055g0074 a0036c0027t0021g0075 |
3 | 118 | 0.0254 | 18 | c.-18 others(35): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92293512 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0004 | a0004c0046 | a0004c0046t0001 | a0004c0046t0001g0099 | 1 | 118 | 0.0085 | 18 | c.-17 others(37): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92412702 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0001 | a0002c0001t0008 | a0002c0001t0008g0041 | 1 | 118 | 0.0085 | 18 | c.329 others(39): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92457692 | C | CGGGCGGA others(11): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02965.hp1 HG02965.hp2 others(1): Show |
a0020a0030a0031others(1): Show | a0020c0034a0030c0066a0031c0056others(1): Show | a0020c0034t0050a0030c0066t0027a0031c0056t0070others(1): Show | a0020c0034t0050g0079 a0030c0066t0027g0057 a0031c0056t0070g0021 others(1): Show |
4 | 118 | 0.0339 | 18 | c.329 others(39): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92499723 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0022 | a0022c0024 | a0022c0024t0010 | a0022c0024t0010g0046 | 1 | 118 | 0.0085 | 18 | c.329 others(39): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92608720 | C | CAATAATA others(11): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01243.hp2 HG01884.hp2 others(29): Show |
a0001a0002a0003others(16): Show | a0001c0005a0001c0025a0001c0035others(24): Show | a0001c0005t0064a0001c0005t0065a0001c0025t0011others(28): Show | a0001c0005t0064g0006 a0001c0005t0065g0004 a0001c0025t0011g0076 others(29): Show |
32 | 118 | 0.2712 | 18 | c.360 others(39): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92753798 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03139.hp1 NA19240.hp2 |
a0003 | a0003c0010a0003c0019a0003c0032 | a0003c0010t0026a0003c0019t0058a0003c0032t0013 | a0003c0010t0026g0048 a0003c0019t0058g0110 a0003c0032t0013g0109 |
3 | 118 | 0.0254 | 18 | c.367 others(37): 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(11): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02109.hp1 NA18986.hp2 |
a0003a0005a0010 | a0003c0020a0005c0043a0010c0072 | a0003c0020t0086a0005c0043t0048a0010c0072t0001 | a0003c0020t0086g0017 a0005c0043t0048g0035 a0010c0072t0001g0077 |
3 | 118 | 0.0254 | 18 | c.367 others(37): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92878634 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03209.hp1 |
a0006 | a0006c0004 | a0006c0004t0006 | a0006c0004t0006g0060 a0006c0004t0006g0111 |
2 | 118 | 0.0170 | 18 | c.121 others(39): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 22/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT4_chr4_125309955_125497932 | 125440606 | T | TGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG03239.hp1 HG03669.hp1 HG04115.hp1 others(3): Show |
a0004a0011a0059 | a0004c0005a0011c0073a0059c0070 | a0004c0005t0001a0011c0073t0001a0059c0070t0001 | a0004c0005t0001g0213 a0004c0005t0001g0238 a0004c0005t0001g0248 others(3): Show |
6 | 320 | 0.0188 | 18 | c.720 others(37): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAT4_chr4_125309955_125497932 | 125440608 | T | TGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0042 | a0042c0072 | a0042c0072t0001 | a0042c0072t0001g0237 | 1 | 320 | 0.0031 | 18 | c.720 others(37): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAT4_chr4_125309955_125497932 | 125440610 | T | TGAGAGAG others(11): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0233 | 1 | 320 | 0.0031 | 18 | c.720 others(37): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAT4_chr4_125309955_125497932 | 125440610 | T | TGTGTGAG others(11): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0013 | a0013c0018 | a0013c0018t0002 | a0013c0018t0002g0027 | 1 | 320 | 0.0031 | 18 | c.720 others(37): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAT4_chr4_125309955_125497932 | 125440610 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA18973.hp2 NA18988.hp1 NA18989.hp2 others(1): Show |
a0005 | a0005c0004 | a0005c0004t0002 | a0005c0004t0002g0104 a0005c0004t0002g0106 a0005c0004t0002g0108 others(1): Show |
4 | 320 | 0.0125 | 18 | c.720 others(37): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAT4_chr4_125309955_125497932 | 125440610 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0021 | a0021c0033 | a0021c0033t0001 | a0021c0033t0001g0049 | 1 | 320 | 0.0031 | 18 | c.720 others(37): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAT4_chr4_125309955_125497932 | 125440610 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0008 | a0008c0006 | a0008c0006t0001 | a0008c0006t0001g0218 | 1 | 320 | 0.0031 | 18 | c.720 others(37): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAXC_chr6_99266168_99354674 | 99288847 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01361.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0026a0001c0001t0053 | a0001c0001t0021g0226 a0001c0001t0026g0239 a0001c0001t0053g0240 |
3 | 398 | 0.0075 | 18 | c.940 others(35): Show |
FAXC | ENSG00000146267.12 | transcript | ENST00000389677.6 | protein_coding | 5/5 | chr6 | TogoVar | |||||||
FAXC_chr6_99266168_99354674 | 99288859 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01981.hp2 HG02486.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0019a0001c0001t0042others(4): Show | a0001c0001t0005g0089 a0001c0001t0019g0172 a0001c0001t0042g0101 others(4): Show |
7 | 398 | 0.0176 | 18 | c.940 others(35): Show |
FAXC | ENSG00000146267.12 | transcript | ENST00000389677.6 | protein_coding | 5/5 | chr6 | TogoVar | |||||||
FAXC_chr6_99266168_99354674 | 99288859 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0075 | 1 | 398 | 0.0025 | 18 | c.940 others(35): Show |
FAXC | ENSG00000146267.12 | transcript | ENST00000389677.6 | protein_coding | 5/5 | chr6 | TogoVar | |||||||
FAXDC2_chr5_154813492_154855603 | 154825650 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01981.hp1 HG02109.hp1 others(5): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0008 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0070 a0001c0001t0001g0093 a0001c0001t0001g0120 others(4): Show |
8 | 310 | 0.0258 | 18 | c.367 others(35): Show |
FAXDC2 | ENSG00000170271.11 | transcript | ENST00000326080.10 | protein_coding | 5/8 | chr5 | TogoVar | |||||||
FAXDC2_chr5_154813492_154855603 | 154835883 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01993.hp2 NA18946.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0267 a0001c0001t0002g0275 a0001c0001t0002g0281 others(2): Show |
5 | 310 | 0.0161 | 18 | c.49- others(31): Show |
FAXDC2 | ENSG00000170271.11 | transcript | ENST00000326080.10 | protein_coding | 2/8 | chr5 | TogoVar | |||||||
FBLIM1_chr1_15753795_15791589 | 15787963 | A | AAAAAATA others(11): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0076 | 1 | 354 | 0.0028 | 18 | c.*33 others(29): Show |
FBLIM1 | ENSG00000162458.13 | transcript | ENST00000375766.8 | protein_coding | 1375 | chr1 | TogoVar | |||||||
FBLIM1_chr1_15753795_15791589 | 15787963 | A | AAAATATA others(11): Show |
downstream_gene_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 354 | 0.0028 | 18 | c.*33 others(29): Show |
FBLIM1 | ENSG00000162458.13 | transcript | ENST00000375766.8 | protein_coding | 1375 | chr1 | TogoVar | |||||||
FBLL1_chr5_168524305_168535634 | 168524942 | G | GTATATAT others(11): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 HG03927.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0000 a0002c0002t0002g0000 |
2 | 460 | 0.0044 | 18 | c.-45 others(29): Show |
FBLL1 | ENSG00000188573.8 | transcript | ENST00000338333.5 | protein_coding | 4362 | chr5 | TogoVar | |||||||
FBLL1_chr5_168524305_168535634 | 168524976 | A | ATATATAT others(11): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 460 | 0.0022 | 18 | c.-45 others(29): Show |
FBLL1 | ENSG00000188573.8 | transcript | ENST00000338333.5 | protein_coding | 4328 | chr5 | TogoVar | |||||||
FBLN1_chr22_45497883_45606135 | 45534292 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 346 | 0.0029 | 18 | c.784 others(33): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FBLN1_chr22_45497883_45606135 | 45555248 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 346 | 0.0029 | 18 | c.169 others(37): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |