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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FARS2_chr6_5256513_5776583 | 5399120 | ATATTATT others(4): Show |
A | intron_variant | MODIFIER | HG02257.hp2 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0029a0001c0001t0002g0148 | 2 | 170 | 0.0118 | -11 | c.613 others(28): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FARS2_chr6_5256513_5776583 | 5414811 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp1 HG01496.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0025a0001c0001t0001g0053a0001c0001t0001g0056others(4): Show | 7 | 170 | 0.0412 | -11 | 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 | 5487879 | CCATGTGT others(4): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01243.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0030others(33): Show | 36 | 170 | 0.2118 | -11 | c.904 others(30): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FARS2_chr6_5256513_5776583 | 5601524 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02895.hp1 NA18942.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117a0001c0001t0002g0143 | 2 | 170 | 0.0118 | -11 | c.106 others(32): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FARS2_chr6_5256513_5776583 | 5633262 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0003t0004others(1): Show | a0001c0001t0001g0075a0001c0001t0001g0094a0001c0001t0002g0103others(6): Show | 9 | 170 | 0.0529 | -11 | c.121 others(32): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FARSB_chr2_222561899_222661092 | 222594093 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 | 1 | 344 | 0.0029 | -11 | c.161 others(30): Show |
FARSB | ENSG00000116120.11 | transcript | ENST00000281828.8 | protein_coding | 16/16 | chr2 | TogoVar | ||||||
FASLG_chr1_172654103_172671876 | 172657003 | TCTGACCC others(4): Show |
T | upstream_gene_variant | MODIFIER | HG03098.hp2 HG03130.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0008a0001c0002t0003g0028 | 2 | 426 | 0.0047 | -11 | c.-21 others(22): Show |
FASLG | ENSG00000117560.8 | transcript | ENST00000367721.3 | protein_coding | 2099 | chr1 | TogoVar | ||||||
FASTKD1_chr2_169523508_169578865 | 169547884 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0309 | 1 | 392 | 0.0026 | -11 | c.121 others(30): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 7/14 | chr2 | TogoVar | ||||||
FASTKD1_chr2_169523508_169578865 | 169554278 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | NA18969.hp2 NA19056.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0035a0002c0004t0001g0057 | 2 | 392 | 0.0051 | -11 | c.121 others(28): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 7/14 | chr2 | TogoVar | ||||||
FASTKD1_chr2_169523508_169578865 | 169568628 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG02965.hp2 HG06807.hp1 NA18949.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0167a0002c0003t0001g0016a0002c0003t0001g0017 | 3 | 392 | 0.0077 | -11 | c.446 others(26): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 3/14 | chr2 | TogoVar | ||||||
FASTKD2_chr2_206760606_206801189 | 206781304 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | NA18961.hp2 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0026 | a0001c0001t0005g0138a0001c0001t0026g0086 | 2 | 394 | 0.0051 | -11 | c.142 others(30): Show |
FASTKD2 | ENSG00000118246.14 | transcript | ENST00000402774.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FASTKD2_chr2_206760606_206801189 | 206793220 | CAAAAAAA others(4): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG02602.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0017a0001c0001t0038a0001c0001t0084others(2): Show | a0001c0001t0017g0220a0001c0001t0038g0017a0001c0001t0084g0207others(5): Show | 10 | 394 | 0.0254 | -11 | c.*14 others(22): Show |
FASTKD2 | ENSG00000118246.14 | transcript | ENST00000402774.8 | protein_coding | 12/12 | 1439 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
FAT1_chr4_186582794_186728856 | 186586543 | CCCCTTCC others(4): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01074.hp2 HG01884.hp1 others(5): Show |
a0005a0009a0010others(1): Show | a0005c0026a0009c0158a0010c0035others(1): Show | a0005c0026t0006a0009c0158t0010a0010c0035t0003others(1): Show | a0005c0026t0006g0061a0005c0026t0006g0067a0005c0026t0006g0087others(5): Show | 8 | 338 | 0.0237 | -11 | c.*20 others(22): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 1250 | chr4 | TogoVar | ||||||
FAT1_chr4_186582794_186728856 | 186610675 | ATAAATAT others(4): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG03041.hp2 HG06807.hp2 others(1): Show |
a0009a0084a0096 | a0009c0056a0084c0110a0096c0104 | a0009c0056t0006a0084c0110t0003a0096c0104t0003 | a0009c0056t0006g0066a0009c0056t0006g0072a0084c0110t0003g0090others(1): Show | 4 | 338 | 0.0118 | -11 | c.985 others(28): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 14/26 | chr4 | TogoVar | ||||||
FAT2_chr5_151499092_151596331 | 151594463 | TATTCATA others(4): Show |
T | upstream_gene_variant | MODIFIER | HG03139.hp1 HG03453.hp2 HG03471.hp1 |
a0002a0008a0010 | a0002c0001a0008c0012a0010c0011 | a0002c0001t0005a0008c0012t0001a0010c0011t0001 | a0002c0001t0005g0036a0008c0012t0001g0045a0010c0011t0001g0034 | 3 | 398 | 0.0075 | -11 | c.-33 others(22): Show |
FAT2 | ENSG00000086570.13 | transcript | ENST00000261800.6 | protein_coding | 3133 | chr5 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92229503 | TTTTGTTT others(4): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG02698.hp2 |
a0004a0009 | a0004c0009a0009c0007 | a0004c0009t0001a0009c0007t0004 | a0004c0009t0001g0070a0009c0007t0004g0071 | 2 | 118 | 0.0170 | -11 | c.-18 others(28): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FAT3_chr11_92219818_92901473 | 92398500 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02280.hp1 others(9): Show |
a0001a0003a0004others(8): Show | a0001c0035a0003c0020a0004c0048others(9): Show | a0001c0035t0033a0003c0020t0086a0004c0048t0047others(9): Show | a0001c0035t0033g0068a0003c0020t0086g0017a0004c0048t0047g0055others(9): Show | 12 | 118 | 0.1017 | -11 | c.329 others(32): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FAT3_chr11_92219818_92901473 | 92416071 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG03540.hp1 |
a0001a0005 | a0001c0006a0005c0004 | a0001c0006t0029a0005c0004t0017 | a0001c0006t0029g0045a0005c0004t0017g0058 | 2 | 118 | 0.0170 | -11 | c.329 others(32): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FAT3_chr11_92219818_92901473 | 92592607 | ACCACACC others(4): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01884.hp1 HG02280.hp1 others(2): Show |
a0001a0036a0037others(2): Show | a0001c0014a0036c0034a0037c0059others(2): Show | a0001c0014t0034a0036c0034t0050a0037c0059t0087others(2): Show | a0001c0014t0034g0062a0036c0034t0050g0079a0037c0059t0087g0015others(2): Show | 5 | 118 | 0.0424 | -11 | c.360 others(32): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FAT3_chr11_92219818_92901473 | 92705439 | GTGGTGGT others(4): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG00741.hp2 HG01069.hp2 others(16): Show |
a0001a0002a0006others(9): Show | a0001c0005a0001c0025a0001c0053others(13): Show | a0001c0005t0019a0001c0005t0064a0001c0005t0065others(16): Show | a0001c0005t0019g0089a0001c0005t0064g0006a0001c0005t0065g0004others(16): Show | 19 | 118 | 0.1610 | -11 | c.366 others(30): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FAT3_chr11_92219818_92901473 | 92813686 | ATTGGTCT others(4): Show |
A | intron_variant | MODIFIER | HG00673.hp2 NA18940.hp1 NA19009.hp1 others(2): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0053a0001c0002t0078a0001c0002t0079others(2): Show | a0001c0002t0053g0090a0001c0002t0078g0009a0001c0002t0079g0003others(2): Show | 5 | 118 | 0.0424 | -11 | c.948 others(30): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 13/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FAT3_chr11_92219818_92901473 | 92878657 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG03540.hp1 NA20300.hp2 |
a0005a0038 | a0005c0004a0038c0058 | a0005c0004t0017a0038c0058t0044 | a0005c0004t0017g0058a0038c0058t0044g0082 | 2 | 118 | 0.0170 | -11 | c.121 others(32): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 22/27 | chr11 | TogoVar | ||||||
FAXC_chr6_99266168_99354674 | 99315252 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG02896.hp1 HG03453.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0052a0001c0001t0094others(3): Show | a0001c0001t0021g0379a0001c0001t0052g0257a0001c0001t0094g0142others(3): Show | 6 | 398 | 0.0151 | -11 | c.823 others(28): Show |
FAXC | ENSG00000146267.12 | transcript | ENST00000389677.6 | protein_coding | 4/5 | chr6 | TogoVar | ||||||
FAXC_chr6_99266168_99354674 | 99319398 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02723.hp1 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0029a0001c0001t0052 | a0001c0001t0021g0379a0001c0001t0029g0095a0001c0001t0052g0257 | 3 | 398 | 0.0075 | -11 | c.823 others(28): Show |
FAXC | ENSG00000146267.12 | transcript | ENST00000389677.6 | protein_coding | 4/5 | chr6 | TogoVar | ||||||
FBF1_chr17_75904574_75946042 | 75910987 | TCTCAATC others(4): Show |
T | intron_variant | MODIFIER | HG01074.hp2 | a0004 | a0004c0010 | a0004c0010t0004 | a0004c0010t0004g0164 | 1 | 318 | 0.0031 | -11 | c.336 others(28): Show |
FBF1 | ENSG00000188878.20 | transcript | ENST00000636174.2 | protein_coding | 29/29 | chr17 | TogoVar | ||||||
FBH1_chr10_5885243_5942593 | 5914042 | TTATTCTC others(4): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01891.hp1 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195a0001c0001t0001g0196a0001c0001t0001g0197others(3): Show | 6 | 344 | 0.0174 | -11 | c.130 others(28): Show |
FBH1 | ENSG00000134452.20 | transcript | ENST00000362091.9 | protein_coding | 7/20 | chr10 | TogoVar | ||||||
FBLIM1_chr1_15753795_15791589 | 15754996 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01069.hp1 HG01243.hp2 others(7): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0008 | a0001c0001t0001a0002c0002t0004a0002c0002t0006others(2): Show | a0001c0001t0001g0215a0001c0001t0001g0239a0002c0002t0004g0017others(6): Show | 10 | 354 | 0.0283 | -11 | c.-40 others(22): Show |
FBLIM1 | ENSG00000162458.13 | transcript | ENST00000375766.8 | protein_coding | 3798 | chr1 | TogoVar | ||||||
FBLIM1_chr1_15753795_15791589 | 15787960 | AAAAATAT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0004 | a0002c0004t0009 | a0002c0004t0009g0266 | 1 | 354 | 0.0028 | -11 | c.*33 others(22): Show |
FBLIM1 | ENSG00000162458.13 | transcript | ENST00000375766.8 | protein_coding | 1372 | chr1 | TogoVar | ||||||
FBLL1_chr5_168524305_168535634 | 168524966 | ATATATAT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0000 | 1 | 460 | 0.0022 | -11 | c.-45 others(22): Show |
FBLL1 | ENSG00000188573.8 | transcript | ENST00000338333.5 | protein_coding | 4338 | chr5 | TogoVar | ||||||
FBLL1_chr5_168524305_168535634 | 168524968 | ATATATAT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG00733.hp1 HG04184.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 3 | 460 | 0.0065 | -11 | c.-45 others(22): Show |
FBLL1 | ENSG00000188573.8 | transcript | ENST00000338333.5 | protein_coding | 4336 | chr5 | TogoVar | ||||||
FBLL1_chr5_168524305_168535634 | 168524970 | ATATATAT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG03491.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0000a0002c0002t0001g0000 | 4 | 460 | 0.0087 | -11 | c.-45 others(22): Show |
FBLL1 | ENSG00000188573.8 | transcript | ENST00000338333.5 | protein_coding | 4334 | chr5 | TogoVar | ||||||
FBLN1_chr22_45497883_45606135 | 45534292 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0344 | 1 | 346 | 0.0029 | -11 | c.784 others(26): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FBLN1_chr22_45497883_45606135 | 45536440 | TTGTAGTT others(4): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0338a0001c0001t0009g0279 | 2 | 346 | 0.0058 | -11 | c.922 others(28): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FBLN5_chr14_91864411_91952694 | 91894417 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 360 | 0.0028 | -11 | c.502 others(26): Show |
FBLN5 | ENSG00000140092.16 | transcript | ENST00000342058.9 | protein_coding | 5/10 | chr14 | TogoVar | ||||||
FBLN5_chr14_91864411_91952694 | 91917590 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0316 | 1 | 360 | 0.0028 | -11 | c.379 others(30): Show |
FBLN5 | ENSG00000140092.16 | transcript | ENST00000342058.9 | protein_coding | 4/10 | chr14 | TogoVar | ||||||
FBLN5_chr14_91864411_91952694 | 91919345 | AAAAAAGA others(4): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG01074.hp2 HG01255.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(35): Show | 38 | 360 | 0.1056 | -11 | c.379 others(30): Show |
FBLN5 | ENSG00000140092.16 | transcript | ENST00000342058.9 | protein_coding | 4/10 | chr14 | TogoVar | ||||||
FBN1_chr15_48403313_48650709 | 48503340 | GAAAACCA others(4): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0018 | 1 | 288 | 0.0035 | -11 | c.211 others(28): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | TogoVar | ||||||
FBN1_chr15_48403313_48650709 | 48568038 | AAAGAAAG others(4): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01884.hp1 HG01978.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0010a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0001t0010g0018a0001c0002t0002g0005a0001c0002t0003g0029others(8): Show | 11 | 288 | 0.0382 | -11 | c.538 others(30): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | TogoVar | ||||||
FBN1_chr15_48403313_48650709 | 48634858 | CACACACA others(4): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG03209.hp2 HG03579.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0002t0007a0001c0005t0007 | a0001c0002t0001g0022a0001c0002t0007g0021a0001c0005t0007g0197 | 3 | 288 | 0.0104 | -11 | c.164 others(28): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128310394 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | NA18975.hp2 NA18977.hp1 |
a0001 | a0001c0001a0001c0052 | a0001c0001t0002a0001c0052t0002 | a0001c0001t0002g0073a0001c0052t0002g0081 | 2 | 236 | 0.0085 | -11 | c.507 others(28): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128310396 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 236 | 0.0042 | -11 | c.507 others(28): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128310400 | ATATTTTT others(4): Show |
A | intron_variant | MODIFIER | NA19063.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0069 | 1 | 236 | 0.0042 | -11 | c.507 others(28): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | TogoVar | ||||||
FBN3_chr19_8060402_8154592 | 8093758 | CAAAACAA others(4): Show |
C | intron_variant | MODIFIER | NA19007.hp1 | a0008 | a0008c0003 | a0008c0003t0002 | a0008c0003t0002g0068 | 1 | 380 | 0.0026 | -11 | c.590 others(28): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 47/63 | chr19 | TogoVar | ||||||
FBP1_chr9_94598133_94644518 | 94618455 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(115): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0035others(95): Show | 118 | 358 | 0.3296 | -11 | c.334 others(26): Show |
FBP1 | ENSG00000165140.12 | transcript | ENST00000375326.9 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
FBP1_chr9_94598133_94644518 | 94619874 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG02109.hp2 HG02280.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0055a0001c0001t0001g0056a0001c0001t0001g0057others(4): Show | 7 | 358 | 0.0196 | -11 | c.333 others(26): Show |
FBP1 | ENSG00000165140.12 | transcript | ENST00000375326.9 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
FBP1_chr9_94598133_94644518 | 94635086 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0225 | 1 | 358 | 0.0028 | -11 | c.170 others(28): Show |
FBP1 | ENSG00000165140.12 | transcript | ENST00000375326.9 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
FBP1_chr9_94598133_94644518 | 94641884 | ATGGCACC others(4): Show |
A | upstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0251 | 1 | 358 | 0.0028 | -11 | c.-25 others(22): Show |
FBP1 | ENSG00000165140.12 | transcript | ENST00000375326.9 | protein_coding | 2367 | chr9 | TogoVar | ||||||
FBXL13_chr7_102806189_103079796 | 102834123 | AAAGAAAG others(4): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0008 | a0008c0012 | a0008c0012t0007 | a0008c0012t0007g0209 | 1 | 328 | 0.0031 | -11 | c.199 others(30): Show |
FBXL13 | ENSG00000161040.19 | transcript | ENST00000440067.4 | protein_coding | 18/20 | chr7 | TogoVar | ||||||
FBXL13_chr7_102806189_103079796 | 102867685 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0326 | 1 | 328 | 0.0031 | -11 | c.190 others(30): Show |
FBXL13 | ENSG00000161040.19 | transcript | ENST00000440067.4 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
FBXL13_chr7_102806189_103079796 | 102893973 | AGAAAGAA others(4): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0014 | a0014c0016 | a0014c0016t0011 | a0014c0016t0011g0174 | 1 | 328 | 0.0031 | -11 | c.127 others(30): Show |
FBXL13 | ENSG00000161040.19 | transcript | ENST00000440067.4 | protein_coding | 12/20 | chr7 | TogoVar |