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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM9B_chrX_9019232_9039127 | 9034702 | GTTGTTGT others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00642.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0029 | 2 | 258 | 0.0078 | -9 | c.-94 others(18): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 576 | chrX | TogoVar | ||||||
FAM9B_chrX_9019232_9039127 | 9034705 | GTTGTTAT others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02897.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0002g0005others(1): Show | 4 | 258 | 0.0155 | -9 | c.-95 others(18): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 579 | chrX | TogoVar | ||||||
FAM9B_chrX_9019232_9039127 | 9034708 | GTTATTAT others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02559.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 4 | 258 | 0.0155 | -9 | c.-95 others(18): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 582 | chrX | TogoVar | ||||||
FAN1_chr15_30898915_30948108 | 30929643 | AATATATA others(2): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(9): Show |
a0001a0008a0011 | a0001c0004a0008c0012a0011c0010 | a0001c0004t0002a0001c0004t0007a0008c0012t0002others(1): Show | a0001c0004t0002g0004a0001c0004t0007g0004a0001c0004t0007g0029others(3): Show | 12 | 303 | 0.0396 | -9 | c.278 others(26): Show |
FAN1 | ENSG00000198690.10 | transcript | ENST00000362065.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
FANCA_chr16_89732549_89821647 | 89733799 | GTGGTGTC others(2): Show |
G | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02280.hp1 HG02559.hp1 others(7): Show |
a0006a0041 | a0006c0007a0006c0056a0041c0049 | a0006c0007t0004a0006c0007t0009a0006c0056t0004others(1): Show | a0006c0007t0004g0310a0006c0007t0004g0311a0006c0007t0004g0315others(7): Show | 10 | 334 | 0.0299 | -9 | c.*47 others(20): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 3749 | chr16 | TogoVar | ||||||
FANCC_chr9_95094054_95322709 | 95311233 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG03654.hp2 NA18940.hp2 NA18963.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014 | a0001c0001t0005g0004a0001c0001t0005g0005a0001c0001t0005g0006others(6): Show | 9 | 278 | 0.0324 | -9 | c.-79 others(26): Show |
FANCC | ENSG00000158169.14 | transcript | ENST00000289081.8 | protein_coding | 1/14 | chr9 | TogoVar | ||||||
FANCD2OS_chr3_10098937_10113255 | 10105770 | AATTATAT others(2): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG01106.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0047 | 12 | 346 | 0.0347 | -9 | c.-8- others(22): Show |
FANCD2OS | ENSG00000163705.13 | transcript | ENST00000450660.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
FANCD2_chr3_10021437_10106932 | 10051409 | AAAAAGGA others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01255.hp1 HG01257.hp1 others(24): Show |
a0002 | a0002c0002a0002c0020 | a0002c0002t0002a0002c0002t0005a0002c0002t0006others(2): Show | a0002c0002t0002g0183a0002c0002t0002g0184a0002c0002t0002g0185others(24): Show | 27 | 242 | 0.1116 | -9 | c.154 others(26): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 17/43 | chr3 | TogoVar | ||||||
FANCD2_chr3_10021437_10106932 | 10105770 | AATTATAT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01070.hp2 HG03688.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0018 | a0001c0001t0001g0013a0001c0001t0001g0059a0001c0001t0004g0039others(2): Show | 5 | 242 | 0.0207 | -9 | c.*45 others(20): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 3839 | chr3 | TogoVar | ||||||
FANCI_chr15_89238979_89322131 | 89245334 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01515.hp2 HG01952.hp2 others(13): Show |
a0001a0002a0004others(1): Show | a0001c0003a0002c0002a0004c0005others(1): Show | a0001c0003t0003a0002c0002t0002a0004c0005t0001others(1): Show | a0001c0003t0003g0280a0001c0003t0003g0282a0001c0003t0003g0283others(13): Show | 16 | 346 | 0.0462 | -9 | c.-20 others(26): Show |
FANCI | ENSG00000140525.20 | transcript | ENST00000310775.12 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
FANCI_chr15_89238979_89322131 | 89279141 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG01952.hp2 HG02109.hp2 others(22): Show |
a0001a0011a0014 | a0001c0003a0001c0021a0011c0027others(1): Show | a0001c0003t0003a0001c0003t0008a0001c0003t0011others(3): Show | a0001c0003t0003g0200a0001c0003t0003g0280a0001c0003t0003g0282others(22): Show | 25 | 346 | 0.0723 | -9 | c.138 others(26): Show |
FANCI | ENSG00000140525.20 | transcript | ENST00000310775.12 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
FANCM_chr14_45130930_45205890 | 45141287 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01358.hp1 HG01884.hp1 HG02257.hp1 others(8): Show |
a0002a0015 | a0002c0003a0002c0007a0015c0030 | a0002c0003t0001a0002c0007t0003a0015c0030t0001 | a0002c0003t0001g0167a0002c0003t0001g0169a0002c0003t0001g0170others(8): Show | 11 | 238 | 0.0462 | -9 | c.759 others(24): Show |
FANCM | ENSG00000187790.12 | transcript | ENST00000267430.10 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FANK1_chr10_125891564_126014592 | 125934724 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG02258.hp1 HG02523.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0055a0001c0001t0001g0120a0001c0001t0001g0155others(8): Show | 11 | 370 | 0.0297 | -9 | c.13+ others(26): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
FAP_chr2_162165684_162248445 | 162179804 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG00738.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0051a0001c0001t0001g0071a0001c0001t0001g0098others(22): Show | 27 | 234 | 0.1154 | -9 | c.186 others(28): Show |
FAP | ENSG00000078098.15 | transcript | ENST00000188790.9 | protein_coding | 21/25 | chr2 | TogoVar | ||||||
FAP_chr2_162165684_162248445 | 162245785 | TATGTTCT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00738.hp1 HG01069.hp1 others(37): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0001a0001c0002t0001a0004c0008t0001 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(34): Show | 40 | 234 | 0.1709 | -9 | c.-24 others(20): Show |
FAP | ENSG00000078098.15 | transcript | ENST00000188790.9 | protein_coding | 2341 | chr2 | TogoVar | ||||||
FAR1_chr11_13663668_13737346 | 13704465 | CTTAAGAA others(2): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG02572.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0194a0001c0001t0007g0195a0001c0001t0007g0196others(1): Show | 4 | 352 | 0.0114 | -9 | c.366 others(26): Show |
FAR1 | ENSG00000197601.14 | transcript | ENST00000354817.8 | protein_coding | 3/11 | chr11 | TogoVar | ||||||
FAR2_chr12_29144278_29340616 | 29264671 | GAGAGGAG others(2): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp2 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007 | a0001c0002t0001g0143a0001c0002t0007g0263a0001c0002t0007g0310 | 3 | 326 | 0.0092 | -9 | c.-38 others(26): Show |
FAR2 | ENSG00000064763.12 | transcript | ENST00000536681.8 | protein_coding | 1/11 | chr12 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98309153 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG00673.hp2 others(36): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(24): Show | a0001c0001t0002g0054a0001c0001t0004g0188a0001c0001t0005g0046others(36): Show | 39 | 218 | 0.1789 | -9 | c.172 others(28): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FARP1_chr13_98138094_98460176 | 98379037 | ATACAATA others(2): Show |
A | intron_variant | MODIFIER | HG03209.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0045a0001c0002t0059 | a0001c0001t0045g0019a0001c0002t0059g0072 | 2 | 218 | 0.0092 | -9 | c.496 others(26): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FARP1_chr13_98138094_98460176 | 98379042 | ATATGTAA others(2): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG01358.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0023 | a0001c0001t0011g0120a0001c0001t0023g0003 | 2 | 218 | 0.0092 | -9 | c.496 others(26): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FARP2_chr2_241351285_241499841 | 241490443 | CCCAGCCC others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00621.hp1 others(89): Show |
a0001a0005a0006others(2): Show | a0001c0001a0005c0014a0006c0009others(2): Show | a0001c0001t0001a0001c0001t0004a0005c0014t0001others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0142a0001c0001t0001g0201others(89): Show | 92 | 378 | 0.2434 | -9 | c.250 others(26): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FARS2_chr6_5256513_5776583 | 5283766 | CTGTATCA others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02257.hp2 HG02451.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0004others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0094a0001c0001t0002g0148others(7): Show | 10 | 170 | 0.0588 | -9 | c.-22 others(28): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FARS2_chr6_5256513_5776583 | 5341224 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG02922.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0088a0001c0001t0002g0133a0001c0001t0002g0134 | 3 | 170 | 0.0177 | -9 | c.-21 others(28): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5399127 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01257.hp1 HG01496.hp1 others(9): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(1): Show | a0001c0001t0001g0046a0001c0001t0001g0058a0001c0001t0001g0071others(9): Show | 12 | 170 | 0.0706 | -9 | c.613 others(26): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FARS2_chr6_5256513_5776583 | 5399168 | TATTATTA others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01106.hp2 HG01258.hp1 others(12): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0020others(12): Show | 15 | 170 | 0.0882 | -9 | c.613 others(26): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FARS2_chr6_5256513_5776583 | 5444487 | AAAAAAAG others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(48): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0020others(48): Show | 51 | 170 | 0.3000 | -9 | c.904 others(28): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FARS2_chr6_5256513_5776583 | 5467492 | TAAAATAT others(2): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG02109.hp2 HG02647.hp1 others(1): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0011 | a0001c0001t0002a0001c0001t0003a0001c0004t0002others(1): Show | a0001c0001t0002g0118a0001c0001t0003g0157a0001c0004t0002g0095others(1): Show | 4 | 170 | 0.0235 | -9 | c.904 others(28): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5532780 | TAATAAGA others(2): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG02451.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0103a0001c0001t0002g0106a0001c0001t0002g0129others(2): Show | 5 | 170 | 0.0294 | -9 | c.905 others(28): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FARS2_chr6_5256513_5776583 | 5601524 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG04199.hp1 HG04228.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0021a0001c0001t0002g0161a0002c0002t0001g0043others(3): Show | 6 | 170 | 0.0353 | -9 | c.106 others(30): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FARS2_chr6_5256513_5776583 | 5776310 | GAGTTTTC others(2): Show |
G | downstream_gene_variant | MODIFIER | HG02895.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092a0001c0001t0001g0093 | 2 | 170 | 0.0118 | -9 | c.*48 others(20): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4728 | chr6 | TogoVar | ||||||
FASTKD1_chr2_169523508_169578865 | 169547884 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01099.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0189a0001c0001t0001g0190a0001c0001t0001g0194others(14): Show | 18 | 392 | 0.0459 | -9 | c.121 others(28): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 7/14 | chr2 | TogoVar | ||||||
FASTKD1_chr2_169523508_169578865 | 169554278 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG01358.hp2 HG01433.hp2 others(36): Show |
a0001a0002a0005others(1): Show | a0001c0006a0001c0007a0002c0002others(3): Show | a0001c0006t0001a0001c0007t0001a0002c0002t0002others(3): Show | a0001c0006t0001g0147a0001c0006t0001g0148a0001c0006t0001g0150others(35): Show | 39 | 392 | 0.0995 | -9 | c.121 others(26): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 7/14 | chr2 | TogoVar | ||||||
FASTKD2_chr2_206760606_206801189 | 206781304 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02622.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0013a0002c0002t0013a0002c0002t0032others(1): Show | a0001c0001t0013g0246a0001c0001t0013g0247a0001c0001t0013g0248others(5): Show | 9 | 394 | 0.0228 | -9 | c.142 others(28): Show |
FASTKD2 | ENSG00000118246.14 | transcript | ENST00000402774.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FASTKD2_chr2_206760606_206801189 | 206793220 | CAAAAAAA others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02273.hp1 HG02630.hp1 HG02647.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0039a0001c0001t0056a0002c0002t0024others(3): Show | a0001c0001t0039g0025a0001c0001t0039g0179a0001c0001t0056g0215others(6): Show | 9 | 394 | 0.0228 | -9 | c.*14 others(20): Show |
FASTKD2 | ENSG00000118246.14 | transcript | ENST00000402774.8 | protein_coding | 12/12 | 1441 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
FAT1_chr4_186582794_186728856 | 186679416 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp1 HG01891.hp1 others(3): Show |
a0020a0080a0082others(1): Show | a0020c0048a0020c0121a0080c0108others(2): Show | a0020c0048t0031a0020c0121t0050a0080c0108t0015others(2): Show | a0020c0048t0031g0116a0020c0048t0031g0117a0020c0121t0050g0153others(3): Show | 6 | 338 | 0.0178 | -9 | c.326 others(30): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 2/26 | chr4 | TogoVar | ||||||
FAT2_chr5_151499092_151596331 | 151537343 | GAAAAGAA others(2): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp1 others(98): Show |
a0001a0002a0003others(26): Show | a0001c0003a0001c0004a0001c0010others(53): Show | a0001c0003t0001a0001c0003t0002a0001c0004t0001others(70): Show | a0001c0003t0001g0121a0001c0003t0001g0202a0001c0003t0001g0204others(98): Show | 101 | 398 | 0.2538 | -9 | c.919 others(26): Show |
FAT2 | ENSG00000086570.13 | transcript | ENST00000261800.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92251719 | AGTGCCTA others(2): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG00741.hp1 others(45): Show |
a0001a0002a0003others(20): Show | a0001c0002a0001c0005a0001c0014others(37): Show | a0001c0002t0078a0001c0002t0079a0001c0002t0080others(45): Show | a0001c0002t0078g0009a0001c0002t0079g0003a0001c0002t0080g0011others(45): Show | 48 | 118 | 0.4068 | -9 | 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 | 92306630 | TTATATTA others(2): Show |
T | intron_variant | MODIFIER | HG01978.hp2 HG02258.hp2 HG03098.hp2 others(1): Show |
a0001a0009 | a0001c0006a0001c0036a0001c0050others(1): Show | a0001c0006t0029a0001c0036t0016a0001c0050t0085others(1): Show | a0001c0006t0029g0045a0001c0036t0016g0033a0001c0050t0085g0022others(1): Show | 4 | 118 | 0.0339 | -9 | c.-17 others(28): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FAT3_chr11_92219818_92901473 | 92350737 | TAGGATTA others(2): Show |
T | intron_variant | MODIFIER | HG01169.hp1 HG01243.hp1 HG01884.hp2 others(10): Show |
a0006a0010a0013others(6): Show | a0006c0076a0006c0077a0006c0078others(10): Show | a0006c0076t0002a0006c0077t0012a0006c0078t0002others(10): Show | a0006c0076t0002g0061a0006c0077t0012g0081a0006c0078t0002g0065others(10): Show | 13 | 118 | 0.1102 | -9 | c.-17 others(26): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FAT3_chr11_92219818_92901473 | 92657278 | GCCCAGTA others(2): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG02280.hp1 NA18522.hp1 others(1): Show |
a0036a0037a0038others(1): Show | a0036c0034a0037c0059a0038c0058others(1): Show | a0036c0034t0050a0037c0059t0087a0038c0058t0044others(1): Show | a0036c0034t0050g0079a0037c0059t0087g0015a0038c0058t0044g0082others(1): Show | 4 | 118 | 0.0339 | -9 | c.360 others(30): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FAT3_chr11_92219818_92901473 | 92878659 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG02080.hp2 HG02630.hp2 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0014a0002c0001others(3): Show | a0001c0002t0078a0001c0014t0036a0002c0001t0003others(3): Show | a0001c0002t0078g0009a0001c0014t0036g0113a0002c0001t0003g0029others(3): Show | 6 | 118 | 0.0509 | -9 | c.121 others(30): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 22/27 | chr11 | TogoVar | ||||||
FBH1_chr10_5885243_5942593 | 5939797 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00597.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0044a0001c0001t0002g0015a0001c0001t0002g0166others(23): Show | 29 | 344 | 0.0843 | -9 | c.*25 others(20): Show |
FBH1 | ENSG00000134452.20 | transcript | ENST00000362091.9 | protein_coding | 2205 | chr10 | TogoVar | ||||||
FBLN1_chr22_45497883_45606135 | 45518127 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01433.hp2 HG01884.hp2 others(12): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0189a0001c0001t0001g0332a0001c0001t0001g0338others(12): Show | 15 | 346 | 0.0434 | -9 | c.80- others(22): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FBLN1_chr22_45497883_45606135 | 45569642 | AAAGAAGA others(2): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01516.hp1 HG02559.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0261a0001c0001t0002g0096a0001c0001t0009g0251others(4): Show | 7 | 346 | 0.0202 | -9 | c.169 others(28): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FBLN1_chr22_45497883_45606135 | 45596864 | CTTTAAAC others(2): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02965.hp1 HG03130.hp1 others(2): Show |
a0001a0003 | a0001c0004a0001c0006a0001c0014others(1): Show | a0001c0004t0001a0001c0006t0001a0001c0014t0001others(1): Show | a0001c0004t0001g0316a0001c0006t0001g0192a0001c0006t0001g0313others(2): Show | 5 | 346 | 0.0145 | -9 | c.197 others(28): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FBLN2_chr3_13544125_13643404 | 13625772 | AGGGATCC others(2): Show |
A | intron_variant | MODIFIER | HG02970.hp2 HG03139.hp1 HG03139.hp2 others(4): Show |
a0001a0002a0006others(1): Show | a0001c0004a0002c0002a0006c0020others(1): Show | a0001c0004t0005a0002c0002t0005a0006c0020t0009others(1): Show | a0001c0004t0005g0247a0001c0004t0005g0248a0002c0002t0005g0299others(4): Show | 7 | 312 | 0.0224 | -9 | c.229 others(26): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FBLN5_chr14_91864411_91952694 | 91919372 | AAAAGAAA others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG03491.hp1 HG03492.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0166a0001c0001t0002g0276a0001c0001t0002g0310others(7): Show | 10 | 360 | 0.0278 | -9 | c.379 others(28): Show |
FBLN5 | ENSG00000140092.16 | transcript | ENST00000342058.9 | protein_coding | 4/10 | chr14 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128319494 | AAATTTAG others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00735.hp1 others(59): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0008others(20): Show | a0001c0001t0003a0001c0001t0005a0001c0003t0001others(30): Show | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0001t0005g0087others(59): Show | 62 | 236 | 0.2627 | -9 | c.447 others(26): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | TogoVar | ||||||
FBN3_chr19_8060402_8154592 | 8082387 | CTTCTCTT others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01261.hp1 others(39): Show |
a0006a0012a0023others(28): Show | a0006c0091a0006c0193a0012c0114others(35): Show | a0006c0091t0003a0006c0193t0003a0012c0114t0001others(35): Show | a0006c0091t0003g0266a0006c0193t0003g0216a0012c0114t0001g0338others(39): Show | 42 | 380 | 0.1105 | -9 | c.721 others(26): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 57/63 | chr19 | TogoVar | ||||||
FBN3_chr19_8060402_8154592 | 8086447 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp2 HG02559.hp2 others(2): Show |
a0070a0109a0111others(2): Show | a0070c0159a0109c0089a0111c0124others(2): Show | a0070c0159t0001a0109c0089t0001a0111c0124t0001others(2): Show | a0070c0159t0001g0006a0109c0089t0001g0359a0111c0124t0001g0009others(2): Show | 5 | 380 | 0.0132 | -9 | c.675 others(26): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 54/63 | chr19 | TogoVar |