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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FANK1_chr10_125891564_126014592 | 125934724 | GTTTTTTT | G | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(88): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0007others(88): Show | 91 | 370 | 0.2460 | -7 | c.13+ others(24): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
FANK1_chr10_125891564_126014592 | 125945936 | CCTGACCA | C | intron_variant | MODIFIER | NA18747.hp2 NA18956.hp1 NA18998.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098a0001c0001t0001g0186a0001c0001t0001g0189others(2): Show | 5 | 370 | 0.0135 | -7 | c.14- others(24): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
FAR2_chr12_29144278_29340616 | 29181570 | CAGTAGAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00642.hp2 others(54): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(53): Show | 57 | 326 | 0.1749 | -7 | c.-39 others(26): Show |
FAR2 | ENSG00000064763.12 | transcript | ENST00000536681.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
FARP1_chr13_98138094_98460176 | 98143711 | GGGGCTCC | G | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01192.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0019others(15): Show | a0001c0001t0004g0179a0001c0001t0004g0188a0001c0001t0004g0197others(32): Show | 35 | 218 | 0.1606 | -7 | c.-24 others(22): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FARP1_chr13_98138094_98460176 | 98190561 | CTTATTTA | C | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00558.hp1 others(47): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(31): Show | a0001c0001t0002g0035a0001c0001t0002g0054a0001c0001t0004g0198others(47): Show | 50 | 218 | 0.2294 | -7 | c.-23 others(26): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FARP1_chr13_98138094_98460176 | 98232140 | GGTTGGTT | G | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01884.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0021a0001c0001t0026a0001c0001t0056others(7): Show | a0001c0001t0021g0187a0001c0001t0026g0158a0001c0001t0056g0074others(7): Show | 10 | 218 | 0.0459 | -7 | c.171 others(26): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 2/26 | chr13 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98233973 | GAATGCGT | G | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0026a0001c0002t0072 | a0001c0001t0026g0158a0001c0002t0072g0157 | 2 | 218 | 0.0092 | -7 | c.171 others(26): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 2/26 | chr13 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98308033 | CTTTTTTT | C | intron_variant | MODIFIER | HG01071.hp2 HG02258.hp2 HG02280.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0011a0001c0001t0018a0001c0001t0022others(6): Show | a0001c0001t0011g0001a0001c0001t0018g0166a0001c0001t0022g0206others(7): Show | 10 | 218 | 0.0459 | -7 | c.172 others(26): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FARP1_chr13_98138094_98460176 | 98392323 | CAAAAAAA | C | intron_variant | MODIFIER | HG01243.hp1 HG01358.hp1 HG01516.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0026a0001c0001t0031others(8): Show | a0001c0001t0011g0120a0001c0001t0026g0158a0001c0001t0031g0216others(9): Show | 12 | 218 | 0.0551 | -7 | c.108 others(26): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FARP1_chr13_98138094_98460176 | 98417455 | GAAAAAAA | G | intron_variant | MODIFIER | HG00099.hp1 HG01175.hp1 HG01346.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0014 | a0001c0001t0001a0001c0001t0005a0001c0002t0003others(3): Show | a0001c0001t0001g0059a0001c0001t0001g0062a0001c0001t0005g0061others(5): Show | 8 | 218 | 0.0367 | -7 | c.182 others(26): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FARP2_chr2_241351285_241499841 | 241453768 | GGTTTTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00609.hp1 others(43): Show |
a0001a0003a0015others(3): Show | a0001c0003a0003c0005a0015c0029others(3): Show | a0001c0003t0001a0001c0003t0008a0003c0005t0001others(5): Show | a0001c0003t0001g0007a0001c0003t0001g0009a0001c0003t0001g0012others(43): Show | 46 | 378 | 0.1217 | -7 | c.141 others(26): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 13/26 | chr2 | TogoVar | ||||||
FARP2_chr2_241351285_241499841 | 241455735 | CTTTTTTT | C | intron_variant | MODIFIER | HG02451.hp2 HG02615.hp1 HG02630.hp1 others(6): Show |
a0001a0005 | a0001c0025a0005c0008 | a0001c0025t0001a0005c0008t0001 | a0001c0025t0001g0160a0005c0008t0001g0144a0005c0008t0001g0146others(6): Show | 9 | 378 | 0.0238 | -7 | c.141 others(24): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FARP2_chr2_241351285_241499841 | 241481056 | CAAAAAAA | C | intron_variant | MODIFIER | HG01261.hp2 HG02559.hp1 HG02572.hp2 others(3): Show |
a0001a0007 | a0001c0001a0001c0015a0007c0013 | a0001c0001t0002a0001c0015t0002a0007c0013t0001 | a0001c0001t0002g0372a0001c0001t0002g0373a0001c0001t0002g0374others(3): Show | 6 | 378 | 0.0159 | -7 | c.226 others(26): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FARS2_chr6_5256513_5776583 | 5348897 | TTTCCCTC | T | intron_variant | MODIFIER | HG01175.hp1 HG01257.hp2 HG01258.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0075a0001c0001t0001g0089a0001c0001t0002g0100others(7): Show | 10 | 170 | 0.0588 | -7 | c.-21 others(26): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FARS2_chr6_5256513_5776583 | 5415305 | CTTTTCTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG00621.hp2 others(56): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(56): Show | 59 | 170 | 0.3471 | -7 | c.772 others(26): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FARS2_chr6_5256513_5776583 | 5444487 | AAAAAAAG | A | intron_variant | MODIFIER | HG00621.hp2 HG01175.hp2 HG01261.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(1): Show | a0001c0001t0001g0042a0001c0001t0001g0048a0001c0001t0001g0074others(22): Show | 25 | 170 | 0.1471 | -7 | c.904 others(26): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FARS2_chr6_5256513_5776583 | 5444493 | AGAGAGAG | A | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG02109.hp2 others(9): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0077others(9): Show | 12 | 170 | 0.0706 | -7 | c.904 others(26): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | chr6 | TogoVar | ||||||
FARSA_chr19_12917479_12938711 | 12935574 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG01167.hp1 HG01169.hp2 others(7): Show |
a0001a0008 | a0001c0001a0008c0014 | a0001c0001t0001a0008c0014t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(2): Show | 10 | 346 | 0.0289 | -7 | c.-18 others(18): Show |
FARSA | ENSG00000179115.11 | transcript | ENST00000314606.9 | protein_coding | 1864 | chr19 | TogoVar | ||||||
FARSB_chr2_222561899_222661092 | 222565900 | TATATATA | T | downstream_gene_variant | MODIFIER | HG01928.hp1 HG02280.hp1 HG02723.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0011a0005c0006t0035 | a0001c0001t0011g0300a0001c0001t0011g0301a0001c0001t0011g0302others(1): Show | 4 | 344 | 0.0116 | -7 | c.*59 others(18): Show |
FARSB | ENSG00000116120.11 | transcript | ENST00000281828.8 | protein_coding | 998 | chr2 | TogoVar | ||||||
FASLG_chr1_172654103_172671876 | 172657519 | ACAACTAC | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG01070.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0002g0009others(3): Show | 15 | 426 | 0.0352 | -7 | c.-16 others(18): Show |
FASLG | ENSG00000117560.8 | transcript | ENST00000367721.3 | protein_coding | 1583 | chr1 | TogoVar | ||||||
FASLG_chr1_172654103_172671876 | 172657523 | CTACCAAA | C | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01167.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0002g0004 | 11 | 426 | 0.0258 | -7 | c.-16 others(18): Show |
FASLG | ENSG00000117560.8 | transcript | ENST00000367721.3 | protein_coding | 1579 | chr1 | TogoVar | ||||||
FASTKD1_chr2_169523508_169578865 | 169524418 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02280.hp1 others(6): Show |
a0001a0002a0005 | a0001c0006a0002c0003a0005c0012 | a0001c0006t0001a0002c0003t0001a0005c0012t0001 | a0001c0006t0001g0155a0001c0006t0001g0302a0001c0006t0001g0303others(6): Show | 9 | 392 | 0.0230 | -7 | c.*54 others(18): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 4089 | chr2 | TogoVar | ||||||
FASTKD1_chr2_169523508_169578865 | 169547884 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG01081.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0013 | a0001c0001t0001g0006a0001c0001t0001g0089a0001c0001t0001g0090others(21): Show | 25 | 392 | 0.0638 | -7 | c.121 others(26): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 7/14 | chr2 | TogoVar | ||||||
FASTKD1_chr2_169523508_169578865 | 169554278 | TAAAAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(116): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(7): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(113): Show | 119 | 392 | 0.3036 | -7 | c.121 others(24): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 7/14 | chr2 | TogoVar | ||||||
FASTKD3_chr5_7854159_7874031 | 7854351 | ATATATAT | A | downstream_gene_variant | MODIFIER | HG01099.hp2 HG01261.hp2 HG02280.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0009a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0009t0004others(3): Show | a0001c0001t0002g0003a0001c0001t0004g0007a0001c0001t0004g0021others(4): Show | 8 | 462 | 0.0173 | -7 | c.*50 others(18): Show |
FASTKD3 | ENSG00000124279.12 | transcript | ENST00000264669.10 | protein_coding | 4807 | chr5 | TogoVar | ||||||
FAS_chr10_88985798_89022059 | 88988430 | TTGTTTTG | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00642.hp2 others(87): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0023a0001c0001t0001g0056a0001c0001t0001g0065others(35): Show | 90 | 396 | 0.2273 | -7 | c.-24 others(18): Show |
FAS | ENSG00000026103.25 | transcript | ENST00000652046.1 | protein_coding | 2367 | chr10 | TogoVar | ||||||
FAT1_chr4_186582794_186728856 | 186682526 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(87): Show |
a0001a0002a0004others(34): Show | a0001c0001a0001c0020a0001c0072others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(52): Show | a0001c0001t0001g0282a0001c0001t0002g0123a0001c0001t0002g0124others(87): Show | 90 | 338 | 0.2663 | -7 | c.326 others(28): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 2/26 | chr4 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92229500 | TTTTTTTG | T | intron_variant | MODIFIER | HG01074.hp1 HG01169.hp1 HG02004.hp2 others(1): Show |
a0001a0010a0011others(1): Show | a0001c0025a0010c0072a0011c0022others(1): Show | a0001c0025t0011a0010c0072t0001a0011c0022t0003others(1): Show | a0001c0025t0011g0076a0010c0072t0001g0077a0011c0022t0003g0072others(1): Show | 4 | 118 | 0.0339 | -7 | c.-18 others(24): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FAT3_chr11_92219818_92901473 | 92478941 | TTTCTTTC | T | intron_variant | MODIFIER | HG02572.hp1 HG02622.hp2 HG02922.hp2 others(2): Show |
a0001a0005a0006others(1): Show | a0001c0006a0005c0004a0006c0078others(1): Show | a0001c0006t0005a0001c0006t0067a0005c0004t0017others(2): Show | a0001c0006t0005g0117a0001c0006t0067g0018a0005c0004t0017g0058others(2): Show | 5 | 118 | 0.0424 | -7 | c.329 others(28): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FAT3_chr11_92219818_92901473 | 92878661 | AAAAAAAG | A | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02280.hp2 others(3): Show |
a0002a0019a0030others(1): Show | a0002c0001a0019c0083a0030c0060others(1): Show | a0002c0001t0009a0002c0001t0038a0002c0001t0073others(3): Show | a0002c0001t0009g0105a0002c0001t0038g0032a0002c0001t0073g0025others(3): Show | 6 | 118 | 0.0509 | -7 | c.121 others(28): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 22/27 | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92884073 | TTTGCCTC | T | intron_variant | MODIFIER | HG00673.hp1 HG00741.hp2 HG01069.hp1 others(46): Show |
a0001a0002a0004others(21): Show | a0001c0005a0001c0006a0001c0035others(32): Show | a0001c0005t0018a0001c0005t0019a0001c0005t0064others(44): Show | a0001c0005t0018g0088a0001c0005t0019g0089a0001c0005t0064g0006others(46): Show | 49 | 118 | 0.4153 | -7 | c.129 others(26): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FAT4_chr4_125309955_125497932 | 125352756 | ATTGCCCT | A | intron_variant | MODIFIER | HG01358.hp2 HG01928.hp2 HG01943.hp1 others(15): Show |
a0001a0007a0009others(2): Show | a0001c0080a0007c0060a0007c0061others(5): Show | a0001c0080t0001a0007c0060t0001a0007c0061t0001others(5): Show | a0001c0080t0001g0128a0007c0060t0001g0032a0007c0061t0001g0031others(14): Show | 18 | 320 | 0.0563 | -7 | c.517 others(28): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
FAT4_chr4_125309955_125497932 | 125471895 | CAAAAAAA | C | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01074.hp2 others(10): Show |
a0001a0002a0003others(5): Show | a0001c0065a0001c0109a0002c0001others(9): Show | a0001c0065t0001a0001c0109t0001a0002c0001t0002others(9): Show | a0001c0065t0001g0028a0001c0109t0001g0164a0002c0001t0002g0099others(10): Show | 13 | 320 | 0.0406 | -7 | c.122 others(28): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
FBF1_chr17_75904574_75946042 | 75945606 | ATTTAACC | A | upstream_gene_variant | MODIFIER | HG01069.hp2 HG02486.hp1 HG02615.hp2 others(4): Show |
a0004 | a0004c0004a0004c0027 | a0004c0004t0001a0004c0027t0001 | a0004c0004t0001g0007a0004c0004t0001g0038a0004c0004t0001g0039others(2): Show | 7 | 318 | 0.0220 | -7 | c.-48 others(18): Show |
FBF1 | ENSG00000188878.20 | transcript | ENST00000636174.2 | protein_coding | 4565 | chr17 | TogoVar | ||||||
FBLN1_chr22_45497883_45606135 | 45530081 | TGTTCTTA | T | intron_variant | MODIFIER | HG00408.hp2 HG01069.hp1 HG01081.hp1 others(53): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0055a0001c0001t0001g0056a0001c0001t0001g0057others(53): Show | 56 | 346 | 0.1619 | -7 | c.485 others(24): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FBLN2_chr3_13544125_13643404 | 13554947 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(249): Show |
a0001a0002a0003others(21): Show | a0001c0003a0001c0004a0001c0005others(66): Show | a0001c0003t0002a0001c0003t0003a0001c0003t0006others(87): Show | a0001c0003t0002g0019a0001c0003t0002g0038a0001c0003t0002g0039others(248): Show | 252 | 312 | 0.8077 | -7 | c.-42 others(24): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FBN1_chr15_48403313_48650709 | 48568042 | AAAGAAAG | A | intron_variant | MODIFIER | HG03669.hp2 NA18960.hp2 NA18992.hp1 others(2): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0003a0001c0004t0004 | a0001c0002t0003g0041a0001c0004t0004g0049a0001c0004t0004g0061others(2): Show | 5 | 288 | 0.0174 | -7 | c.538 others(26): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | TogoVar | ||||||
FBN1_chr15_48403313_48650709 | 48634860 | CACACACA | C | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp2 HG02630.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0005a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0005g0141a0001c0002t0001g0283a0001c0002t0002g0125others(6): Show | 9 | 288 | 0.0313 | -7 | c.164 others(24): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128289775 | AATATACT | A | intron_variant | MODIFIER | HG02818.hp2 HG03209.hp2 HG03471.hp1 others(2): Show |
a0002a0027 | a0002c0015a0002c0034a0002c0055others(1): Show | a0002c0015t0008a0002c0015t0010a0002c0034t0004others(2): Show | a0002c0015t0008g0024a0002c0015t0010g0025a0002c0034t0004g0038others(2): Show | 5 | 236 | 0.0212 | -7 | c.651 others(24): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 51/64 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128310396 | ATATATAT | A | intron_variant | MODIFIER | HG01071.hp1 HG01496.hp1 HG02896.hp1 others(9): Show |
a0003a0011a0020 | a0003c0004a0003c0007a0011c0018others(1): Show | a0003c0004t0001a0003c0004t0002a0003c0004t0005others(4): Show | a0003c0004t0001g0155a0003c0004t0002g0063a0003c0004t0002g0064others(9): Show | 12 | 236 | 0.0509 | -7 | c.507 others(24): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | TogoVar | ||||||
FBP1_chr9_94598133_94644518 | 94602631 | AAAAAAAG | A | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01255.hp1 HG01952.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0031a0001c0001t0001g0033a0001c0001t0001g0034others(15): Show | 18 | 358 | 0.0503 | -7 | c.*74 others(16): Show |
FBP1 | ENSG00000165140.12 | transcript | ENST00000375326.9 | protein_coding | 501 | chr9 | TogoVar | ||||||
FBP1_chr9_94598133_94644518 | 94619874 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG01993.hp1 HG02145.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0002g0116others(5): Show | 8 | 358 | 0.0224 | -7 | c.333 others(22): Show |
FBP1 | ENSG00000165140.12 | transcript | ENST00000375326.9 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132557487 | GCGGGGCT | G | intron_variant | MODIFIER | HG00280.hp1 HG02027.hp1 HG02040.hp2 others(19): Show |
a0000a0002a0004others(4): Show | a0000c0039a0000c0084a0000c0085others(6): Show | a0000c0039t0005a0000c0039t0023a0000c0084t0036others(10): Show | a0000c0039t0005g0324a0000c0039t0023g0331a0000c0084t0036g0320others(19): Show | 22 | 348 | 0.0632 | -7 | c.645 others(24): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
FBXL13_chr7_102806189_103079796 | 102834066 | AAGGAAGG | A | intron_variant | MODIFIER | HG01361.hp2 HG01928.hp1 HG02155.hp1 others(7): Show |
a0004a0006a0016 | a0004c0005a0006c0007a0016c0018 | a0004c0005t0001a0006c0007t0001a0016c0018t0001 | a0004c0005t0001g0155a0004c0005t0001g0162a0004c0005t0001g0166others(7): Show | 10 | 328 | 0.0305 | -7 | c.199 others(26): Show |
FBXL13 | ENSG00000161040.19 | transcript | ENST00000440067.4 | protein_coding | 18/20 | chr7 | TogoVar | ||||||
FBXL13_chr7_102806189_103079796 | 102867695 | ATTTTTTT | A | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00673.hp1 others(11): Show |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0001a0003c0004t0001 | a0002c0003t0001g0265a0002c0003t0001g0272a0002c0003t0001g0276others(11): Show | 14 | 328 | 0.0427 | -7 | c.190 others(26): Show |
FBXL13 | ENSG00000161040.19 | transcript | ENST00000440067.4 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
FBXL13_chr7_102806189_103079796 | 102893977 | AGAAAGAG | A | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00609.hp1 others(30): Show |
a0004a0006a0010others(2): Show | a0004c0005a0006c0007a0010c0017others(2): Show | a0004c0005t0001a0006c0007t0001a0010c0017t0011others(2): Show | a0004c0005t0001g0146a0004c0005t0001g0153a0004c0005t0001g0155others(30): Show | 33 | 328 | 0.1006 | -7 | c.127 others(26): Show |
FBXL13 | ENSG00000161040.19 | transcript | ENST00000440067.4 | protein_coding | 12/20 | chr7 | TogoVar | ||||||
FBXL13_chr7_102806189_103079796 | 103076833 | TCAAAAAA | T | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01081.hp1 HG01167.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010a0001c0002t0001g0011a0001c0002t0001g0012others(1): Show | 4 | 328 | 0.0122 | -7 | c.-20 others(18): Show |
FBXL13 | ENSG00000161040.19 | transcript | ENST00000440067.4 | protein_coding | 2038 | chr7 | TogoVar | ||||||
FBXL16_chr16_687500_710801 | 698926 | AAAAAAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(131): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0002t0001a0001c0002t0005others(7): Show | a0001c0001t0003g0141a0001c0002t0001g0002a0001c0002t0001g0003others(40): Show | 134 | 372 | 0.3602 | -7 | c.-14 others(24): Show |
FBXL16 | ENSG00000127585.13 | transcript | ENST00000397621.6 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
FBXL17_chr5_107854035_108387098 | 107966428 | GGTCATTT | G | intron_variant | MODIFIER | HG00280.hp1 HG01515.hp1 HG01517.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0015others(1): Show | a0001c0001t0001g0157a0001c0001t0001g0158a0001c0001t0001g0177others(3): Show | 6 | 244 | 0.0246 | -7 | c.182 others(28): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 7/8 | chr5 | TogoVar | ||||||
FBXL17_chr5_107854035_108387098 | 108088700 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00609.hp2 others(46): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0097a0001c0001t0001g0123a0001c0001t0001g0132others(46): Show | 49 | 244 | 0.2008 | -7 | c.174 others(28): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 6/8 | chr5 | TogoVar |