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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FARP1_chr13_98138094_98460176 | 98401415 | A | AACACACA others(23): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0005 | 1 | 218 | 0.0046 | 30 | c.141 others(49): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98401415 | A | AACACACA others(23): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 | 1 | 218 | 0.0046 | 30 | c.141 others(49): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98401415 | A | AACACACA others(23): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01516.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0058a0001c0002t0001a0001c0002t0003 | a0001c0001t0058g0070 a0001c0002t0001g0033 a0001c0002t0003g0022 |
3 | 218 | 0.0138 | 30 | c.141 others(49): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98432824 | A | ACTGGAGG others(23): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00544.hp1 others(76): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(43): Show | a0001c0001t0002g0027 a0001c0001t0002g0039 a0001c0001t0002g0040 others(76): Show |
79 | 218 | 0.3624 | 30 | c.214 others(49): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98432855 | C | CTGGAGGG others(23): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0132 | 1 | 218 | 0.0046 | 30 | c.214 others(49): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5407043 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01243.hp2 HG01496.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0002g0121 others(2): Show |
5 | 170 | 0.0294 | 30 | c.772 others(47): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5407066 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG01258.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0002c0002t0001a0002c0006t0001 | a0001c0001t0001g0081 a0002c0002t0001g0013 a0002c0002t0001g0022 others(4): Show |
7 | 170 | 0.0412 | 30 | c.772 others(47): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5539384 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0001 | a0001c0001t0002g0167 a0001c0007t0001g0038 |
2 | 170 | 0.0118 | 30 | c.905 others(47): 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(23): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0165 | 1 | 170 | 0.0059 | 30 | c.905 others(47): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5539384 | G | GTGTGTAT others(23): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 170 | 0.0059 | 30 | c.905 others(47): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5717929 | T | TAGAGAGA others(23): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 170 | 0.0059 | 30 | c.121 others(51): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5717935 | T | TAGAGAGA others(23): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 170 | 0.0059 | 30 | c.121 others(51): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5717935 | T | TATAGAGA others(23): Show |
intron_variant | MODIFIER | HG02723.hp2 HG04115.hp1 |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0005c0008t0002 | a0001c0001t0001g0073 a0005c0008t0002g0168 |
2 | 170 | 0.0118 | 30 | c.121 others(51): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5717935 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 170 | 0.0059 | 30 | c.121 others(51): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5717935 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 170 | 0.0059 | 30 | c.121 others(51): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FASN_chr17_82073338_82103236 | 82089422 | G | GGCACCCA others(23): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0005 | a0005c0069 | a0005c0069t0001 | a0005c0069t0001g0181 | 1 | 420 | 0.0024 | 30 | c.196 others(45): Show |
FASN | ENSG00000169710.9 | transcript | ENST00000306749.4 | protein_coding | 12/42 | chr17 | TogoVar | |||||||
FAT2_chr5_151499092_151596331 | 151534970 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG02818.hp2 NA18954.hp1 NA18954.hp2 others(3): Show |
a0001a0006a0007others(2): Show | a0001c0003a0001c0004a0006c0005others(3): Show | a0001c0003t0001a0001c0004t0001a0006c0005t0003others(3): Show | a0001c0003t0001g0210 a0001c0004t0001g0256 a0006c0005t0003g0128 others(3): Show |
6 | 398 | 0.0151 | 30 | c.919 others(47): Show |
FAT2 | ENSG00000086570.13 | transcript | ENST00000261800.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
FAT2_chr5_151499092_151596331 | 151554731 | C | CTTTGCCA others(23): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03471.hp2 NA19030.hp1 |
a0076a0079a0080 | a0076c0111a0079c0175a0080c0176 | a0076c0111t0001a0079c0175t0010a0080c0176t0001 | a0076c0111t0001g0076 a0079c0175t0010g0148 a0080c0176t0001g0311 |
3 | 398 | 0.0075 | 30 | c.363 others(45): Show |
FAT2 | ENSG00000086570.13 | transcript | ENST00000261800.6 | protein_coding | 4/23 | chr5 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92753798 | G | GTGTATAT others(23): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0040 | a0040c0056 | a0040c0056t0070 | a0040c0056t0070g0021 | 1 | 118 | 0.0085 | 30 | c.367 others(49): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92753798 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02080.hp2 HG02615.hp1 others(6): Show |
a0004a0011a0013others(3): Show | a0004c0012a0004c0049a0004c0062others(5): Show | a0004c0012t0002a0004c0012t0004a0004c0049t0013others(6): Show | a0004c0012t0002g0054 a0004c0012t0004g0044 a0004c0049t0013g0080 others(6): Show |
9 | 118 | 0.0763 | 30 | c.367 others(49): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT4_chr4_125309955_125497932 | 125440610 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0005 | a0005c0004 | a0005c0004t0002 | a0005c0004t0002g0115 | 1 | 320 | 0.0031 | 30 | c.720 others(49): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAXDC2_chr5_154813492_154855603 | 154825120 | T | TTTGGGAA others(23): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0094 | 1 | 310 | 0.0032 | 30 | c.367 others(47): Show |
FAXDC2 | ENSG00000170271.11 | transcript | ENST00000326080.10 | protein_coding | 5/8 | chr5 | TogoVar | |||||||
FAXDC2_chr5_154813492_154855603 | 154825650 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 310 | 0.0032 | 30 | c.367 others(47): Show |
FAXDC2 | ENSG00000170271.11 | transcript | ENST00000326080.10 | protein_coding | 5/8 | chr5 | TogoVar | |||||||
FBLN1_chr22_45497883_45606135 | 45534292 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0340 | 1 | 346 | 0.0029 | 30 | c.784 others(45): 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(23): Show |
intron_variant | MODIFIER | HG02738.hp2 HG04115.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0013 a0001c0001t0001g0177 a0001c0001t0011g0060 |
3 | 346 | 0.0087 | 30 | c.169 others(49): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FBLN1_chr22_45497883_45606135 | 45596603 | T | TATTATAT others(23): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 346 | 0.0029 | 30 | c.197 others(49): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FBLN1_chr22_45497883_45606135 | 45602817 | C | CAAAAAAA others(23): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 HG02965.hp1 |
a0001 | a0001c0005a0001c0006 | a0001c0005t0007a0001c0006t0001 | a0001c0005t0007g0085 a0001c0006t0001g0192 |
2 | 346 | 0.0058 | 30 | c.*23 others(41): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1683 | chr22 | TogoVar | |||||||
FBLN2_chr3_13544125_13643404 | 13585527 | T | TGAAGGAG others(23): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0033 | a0001c0033t0005 | a0001c0033t0005g0228 | 1 | 312 | 0.0032 | 30 | c.130 others(51): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FBLN2_chr3_13544125_13643404 | 13633954 | A | AACACACA others(23): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG01891.hp1 others(9): Show |
a0001a0002a0004 | a0001c0003a0001c0004a0001c0007others(5): Show | a0001c0003t0008a0001c0004t0001a0001c0004t0005others(7): Show | a0001c0003t0008g0193 a0001c0004t0001g0253 a0001c0004t0005g0234 others(9): Show |
12 | 312 | 0.0385 | 30 | c.321 others(49): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FBLN7_chr2_112133385_112193218 | 112134887 | C | CTTTTTTT others(23): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00738.hp2 others(9): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0028 a0001c0001t0001g0029 others(9): Show |
12 | 346 | 0.0347 | 30 | c.-37 others(41): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 3497 | chr2 | TogoVar | |||||||
FBLN7_chr2_112133385_112193218 | 112167869 | C | CGTTATGT others(23): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01256.hp1 HG01257.hp2 others(7): Show |
a0001a0009 | a0001c0001a0009c0013 | a0001c0001t0001a0001c0001t0003a0009c0013t0001 | a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0122 others(5): Show |
10 | 346 | 0.0289 | 30 | c.406 others(47): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FBN1_chr15_48403313_48650709 | 48435772 | A | ATATATGT others(23): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02615.hp2 HG02809.hp2 others(6): Show |
a0001a0007 | a0001c0001a0007c0019 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0002g0075 others(6): Show |
9 | 288 | 0.0313 | 30 | c.649 others(49): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | TogoVar | |||||||
FBN1_chr15_48403313_48650709 | 48469080 | A | AAAATATA others(23): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0024 | a0001c0024t0010 | a0001c0024t0010g0195 | 1 | 288 | 0.0035 | 30 | c.446 others(47): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | TogoVar | |||||||
FBN1_chr15_48403313_48650709 | 48469080 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG01123.hp2 others(27): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(8): Show | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 others(27): Show |
30 | 288 | 0.1042 | 30 | c.446 others(47): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128434394 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0008 | a0001c0008t0006 | a0001c0008t0006g0023 | 1 | 236 | 0.0042 | 30 | c.952 others(49): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128434394 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02965.hp2 HG03486.hp2 |
a0001a0008a0018 | a0001c0011a0008c0063a0018c0030 | a0001c0011t0009a0008c0063t0012a0018c0030t0008 | a0001c0011t0009g0065 a0008c0063t0012g0096 a0018c0030t0008g0021 |
3 | 236 | 0.0127 | 30 | c.952 others(49): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128434424 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0050 | 1 | 236 | 0.0042 | 30 | c.952 others(49): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128539839 | T | TCTATCAT others(23): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0074 | 1 | 236 | 0.0042 | 30 | c.-22 others(41): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1595 | chr5 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128539884 | T | TCATATAT others(23): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG01516.hp1 HG01952.hp2 others(22): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0011a0001c0052others(8): Show | a0001c0001t0002a0001c0001t0013a0001c0011t0009others(11): Show | a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 others(22): Show |
25 | 236 | 0.1059 | 30 | c.-22 others(41): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1640 | chr5 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128539884 | T | TCATATAT others(23): Show |
upstream_gene_variant | MODIFIER | NA18988.hp1 NA20129.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0006 | a0001c0001t0002g0075 a0001c0003t0006g0060 |
2 | 236 | 0.0085 | 30 | c.-22 others(41): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1640 | chr5 | TogoVar | |||||||
FBN3_chr19_8060402_8154592 | 8130636 | G | GGAAGGAA others(23): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0004 | a0004c0026 | a0004c0026t0002 | a0004c0026t0002g0172 | 1 | 380 | 0.0026 | 30 | c.204 others(47): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar | |||||||
FBN3_chr19_8060402_8154592 | 8130639 | A | AGAAAGGA others(23): Show |
intron_variant | MODIFIER | HG01256.hp2 NA18995.hp1 |
a0002a0102 | a0002c0001a0102c0085 | a0002c0001t0001a0102c0085t0002 | a0002c0001t0001g0059 a0102c0085t0002g0080 |
2 | 380 | 0.0053 | 30 | c.204 others(47): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar | |||||||
FBN3_chr19_8060402_8154592 | 8130659 | G | GGAAAAGA others(23): Show |
intron_variant | MODIFIER | HG00544.hp2 NA18944.hp1 NA18969.hp1 |
a0005a0019 | a0005c0004a0019c0106a0019c0203 | a0005c0004t0002a0019c0106t0001a0019c0203t0001 | a0005c0004t0002g0138 a0019c0106t0001g0087 a0019c0203t0001g0183 |
3 | 380 | 0.0079 | 30 | c.204 others(47): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar | |||||||
FBRSL1_chr12_132485151_132590188 | 132566544 | G | GCCACAGG others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(270): Show |
a0000a0001a0002others(29): Show | a0000c0009a0000c0014a0000c0015others(74): Show | a0000c0009t0001a0000c0009t0003a0000c0009t0008others(122): Show | a0000c0009t0001g0161 a0000c0009t0001g0224 a0000c0009t0001g0227 others(269): Show |
273 | 348 | 0.7845 | 30 | c.646 others(45): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132586825 | A | AGGCCAGG others(23): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02280.hp2 others(1): Show |
a0001a0010 | a0001c0005a0010c0034 | a0001c0005t0006a0010c0034t0006 | a0001c0005t0006g0099 a0001c0005t0006g0101 a0001c0005t0006g0102 others(1): Show |
4 | 348 | 0.0115 | 30 | c.*30 others(41): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 1638 | chr12 | TogoVar | |||||||
FBRSL1_chr12_132485151_132590188 | 132586833 | A | ACCCAGCG others(23): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0000 | a0000c0063 | a0000c0063t0051 | a0000c0063t0051g0086 | 1 | 348 | 0.0029 | 30 | c.*30 others(41): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 1646 | chr12 | TogoVar | |||||||
FBRSL1_chr12_132485151_132590188 | 132586838 | G | GCGGCGAG others(23): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 HG02615.hp2 HG02723.hp2 others(4): Show |
a0000a0001 | a0000c0030a0001c0011 | a0000c0030t0019a0001c0011t0019a0001c0011t0039others(3): Show | a0000c0030t0019g0145 a0000c0030t0019g0147 a0001c0011t0019g0146 others(4): Show |
7 | 348 | 0.0201 | 30 | c.*30 others(41): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 1651 | chr12 | TogoVar | |||||||
FBRSL1_chr12_132485151_132590188 | 132586838 | G | GCGGTGAG others(23): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 | a0022 | a0022c0075 | a0022c0075t0038 | a0022c0075t0038g0123 | 1 | 348 | 0.0029 | 30 | c.*30 others(41): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 1651 | chr12 | TogoVar | |||||||
FBRSL1_chr12_132485151_132590188 | 132586839 | C | CGGCGAGG others(23): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00558.hp2 others(61): Show |
a0000a0001a0004others(12): Show | a0000c0019a0000c0039a0000c0043others(25): Show | a0000c0019t0006a0000c0019t0011a0000c0039t0005others(35): Show | a0000c0019t0006g0098 a0000c0019t0006g0127 a0000c0019t0011g0313 others(61): Show |
64 | 348 | 0.1839 | 30 | c.*30 others(41): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 1652 | chr12 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1572856 | G | GGGATGGA others(23): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0296 | 1 | 418 | 0.0024 | 30 | c.119 others(49): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar |