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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM227B_chr15_49321970_49625818 | 49489869 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 294 | 0.0034 | -22 | c.101 others(43): Show |
FAM227B | ENSG00000166262.16 | transcript | ENST00000299338.11 | protein_coding | 11/15 | chr15 | TogoVar | ||||||
FAM227B_chr15_49321970_49625818 | 49588547 | CTATATAT others(15): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG01255.hp2 HG02055.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0008 | a0001c0001t0002g0111a0001c0001t0002g0135a0001c0001t0002g0161others(6): Show | 9 | 294 | 0.0306 | -22 | c.338 others(37): Show |
FAM227B | ENSG00000166262.16 | transcript | ENST00000299338.11 | protein_coding | 4/15 | chr15 | TogoVar | ||||||
FAM246A_chr22_21355601_21366299 | 21365586 | TGTTTGTC others(15): Show |
T | upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 416 | 0.0024 | -22 | c.-43 others(33): Show |
FAM246A | ENSG00000286102.1 | transcript | ENST00000652479.1 | protein_coding | 4288 | chr22 | TogoVar | ||||||
FAM25C_chr10_47990322_48004791 | 47993777 | TTAGTGAA others(15): Show |
T | downstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 436 | 0.0023 | -22 | c.*15 others(33): Show |
FAM25C | ENSG00000276430.3 | transcript | ENST00000617224.3 | protein_coding | 1544 | chr10 | TogoVar | ||||||
FAM3C_chr7_121343878_121401308 | 121373176 | GTCAGGAT others(15): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp2 others(73): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0002g0017others(64): Show | 76 | 270 | 0.2815 | -22 | c.119 others(39): Show |
FAM3C | ENSG00000196937.11 | transcript | ENST00000359943.8 | protein_coding | 3/9 | chr7 | TogoVar | ||||||
FAM50A_chrX_154439141_154455654 | 154444188 | TCGCCGCC others(15): Show |
T | 5_prime_UTR_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0012 | 1 | 275 | 0.0036 | -22 | c.-31 others(29): Show |
FAM50A | ENSG00000071859.15 | transcript | ENST00000393600.8 | protein_coding | 1/13 | 10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
FAM78A_chr9_131253078_131281510 | 131256257 | TACACACA others(15): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0047others(28): Show | 39 | 418 | 0.0933 | -22 | c.*45 others(33): Show |
FAM78A | ENSG00000126882.14 | transcript | ENST00000372271.4 | protein_coding | 1820 | chr9 | TogoVar | ||||||
FAM78B_chr1_166064299_166172001 | 166109860 | ATGTATGT others(15): Show |
A | intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0221 | 1 | 318 | 0.0031 | -22 | c.264 others(41): Show |
FAM78B | ENSG00000188859.7 | transcript | ENST00000354422.4 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
FAM83B_chr6_54841771_54950099 | 54876278 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02602.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0191a0001c0002t0002g0222 | 2 | 272 | 0.0074 | -22 | c.444 others(39): Show |
FAM83B | ENSG00000168143.9 | transcript | ENST00000306858.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FAM83E_chr19_48594961_48620076 | 48602704 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0003 | a0003c0002 | a0003c0002t0006 | a0003c0002t0006g0130 | 1 | 414 | 0.0024 | -22 | c.117 others(39): Show |
FAM83E | ENSG00000105523.4 | transcript | ENST00000263266.4 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
FAM98A_chr2_33578660_33604299 | 33594600 | CATACATA others(15): Show |
C | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 406 | 0.0025 | -22 | c.202 others(37): Show |
FAM98A | ENSG00000119812.20 | transcript | ENST00000238823.13 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
FAM98A_chr2_33578660_33604299 | 33594684 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02572.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0038 | 6 | 406 | 0.0148 | -22 | c.202 others(37): Show |
FAM98A | ENSG00000119812.20 | transcript | ENST00000238823.13 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
FANCD2_chr3_10021437_10106932 | 10054417 | ACATATAT others(15): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0002 | a0001c0001t0003g0029a0001c0001t0003g0136a0001c0001t0003g0138others(1): Show | 4 | 242 | 0.0165 | -22 | c.165 others(41): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 18/43 | chr3 | TogoVar | ||||||
FANCD2_chr3_10021437_10106932 | 10054436 | CATGTATA others(15): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0009 | a0009c0010 | a0009c0010t0003 | a0009c0010t0003g0158 | 1 | 242 | 0.0041 | -22 | c.165 others(41): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 18/43 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FANCD2_chr3_10021437_10106932 | 10054457 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0015 | a0015c0014 | a0015c0014t0013 | a0015c0014t0013g0154 | 1 | 242 | 0.0041 | -22 | c.165 others(41): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 18/43 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FANCI_chr15_89238979_89322131 | 89316295 | AAGGCTTT others(15): Show |
A | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0072 | 1 | 346 | 0.0029 | -22 | c.392 others(38): Show |
FANCI | ENSG00000140525.20 | transcript | ENST00000310775.12 | protein_coding | 37/37 | chr15 | TogoVar | ||||||
FANCL_chr2_58154247_58246325 | 58217195 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG02132.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136a0001c0001t0001g0158 | 2 | 390 | 0.0051 | -22 | c.374 others(39): Show |
FANCL | ENSG00000115392.13 | transcript | ENST00000233741.9 | protein_coding | 5/13 | chr2 | TogoVar | ||||||
FANCL_chr2_58154247_58246325 | 58217201 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02572.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0008a0001c0001t0001g0119a0001c0001t0001g0121others(4): Show | 8 | 390 | 0.0205 | -22 | c.374 others(39): Show |
FANCL | ENSG00000115392.13 | transcript | ENST00000233741.9 | protein_coding | 5/13 | chr2 | TogoVar | ||||||
FANK1_chr10_125891564_126014592 | 125912443 | AGTGTGTG others(15): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00741.hp1 HG01069.hp1 others(15): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0155others(15): Show | 18 | 370 | 0.0487 | -22 | c.13+ others(39): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
FANK1_chr10_125891564_126014592 | 125952800 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG03041.hp1 NA18972.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0229a0001c0001t0001g0295a0001c0001t0001g0298others(1): Show | 4 | 370 | 0.0108 | -22 | c.14- others(39): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
FARP1_chr13_98138094_98460176 | 98287208 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(69): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(31): Show | a0001c0001t0001g0059a0001c0001t0001g0062a0001c0001t0002g0035others(69): Show | 72 | 218 | 0.3303 | -22 | c.172 others(41): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FARP1_chr13_98138094_98460176 | 98396439 | TTGAGTGA others(15): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(192): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(91): Show | a0001c0001t0002g0027a0001c0001t0002g0035a0001c0001t0002g0039others(192): Show | 195 | 218 | 0.8945 | -22 | c.141 others(40): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FARP2_chr2_241351285_241499841 | 241415989 | CTGTGTGT others(15): Show |
C | intron_variant | MODIFIER | HG02083.hp1 NA18747.hp1 NA18950.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268a0001c0001t0001g0322a0001c0001t0001g0326others(1): Show | 4 | 378 | 0.0106 | -22 | c.624 others(39): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FARS2_chr6_5256513_5776583 | 5341215 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 170 | 0.0059 | -22 | c.-21 others(41): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FARS2_chr6_5256513_5776583 | 5341219 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0076 | 1 | 170 | 0.0059 | -22 | c.-21 others(41): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FARS2_chr6_5256513_5776583 | 5341221 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG02572.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0119a0001c0003t0002g0166 | 2 | 170 | 0.0118 | -22 | c.-21 others(41): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FARS2_chr6_5256513_5776583 | 5432323 | AAAAAATA others(15): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0095 | 1 | 170 | 0.0059 | -22 | c.904 others(39): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FASTKD1_chr2_169523508_169578865 | 169561748 | ATAAATTA others(15): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01256.hp1 HG01258.hp2 others(9): Show |
a0002a0003 | a0002c0003a0003c0005 | a0002c0003t0001a0003c0005t0001 | a0002c0003t0001g0002a0002c0003t0001g0065a0002c0003t0001g0066others(8): Show | 12 | 392 | 0.0306 | -22 | c.573 others(37): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 4/14 | chr2 | TogoVar | ||||||
FAT1_chr4_186582794_186728856 | 186645366 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG02572.hp1 HG03130.hp2 others(2): Show |
a0001a0002a0044others(2): Show | a0001c0001a0002c0002a0044c0045others(2): Show | a0001c0001t0005a0002c0002t0009a0044c0045t0001others(2): Show | a0001c0001t0005g0009a0002c0002t0009g0300a0044c0045t0001g0245others(2): Show | 5 | 338 | 0.0148 | -22 | c.358 others(41): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 3/26 | chr4 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92223798 | CTCTCTCT others(15): Show |
C | upstream_gene_variant | MODIFIER | HG03486.hp1 NA20300.hp1 |
a0012a0047 | a0012c0064a0047c0068 | a0012c0064t0041a0047c0068t0037 | a0012c0064t0041g0086a0047c0068t0037g0085 | 2 | 118 | 0.0170 | -22 | c.-13 others(33): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 1019 | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92223800 | CTCTCTCT others(15): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02818.hp2 others(3): Show |
a0001a0003a0006others(2): Show | a0001c0005a0001c0014a0003c0020others(3): Show | a0001c0005t0018a0001c0014t0036a0003c0020t0086others(3): Show | a0001c0005t0018g0088a0001c0014t0036g0113a0003c0020t0086g0017others(3): Show | 6 | 118 | 0.0509 | -22 | c.-13 others(33): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 1017 | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92223802 | CTCTCTGT others(15): Show |
C | upstream_gene_variant | MODIFIER | HG01074.hp2 HG02723.hp2 HG02970.hp2 others(1): Show |
a0001a0013a0018others(1): Show | a0001c0051a0013c0074a0018c0082others(1): Show | a0001c0051t0088a0013c0074t0084a0018c0082t0072others(1): Show | a0001c0051t0088g0016a0013c0074t0084g0014a0018c0082t0072g0013others(1): Show | 4 | 118 | 0.0339 | -22 | c.-13 others(33): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 1015 | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92373760 | GCACACAC others(15): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01099.hp1 HG01884.hp1 others(4): Show |
a0001a0003a0004others(2): Show | a0001c0006a0001c0014a0003c0011others(4): Show | a0001c0006t0067a0001c0014t0034a0003c0011t0005others(4): Show | a0001c0006t0067g0018a0001c0014t0034g0062a0003c0011t0005g0053others(4): Show | 7 | 118 | 0.0593 | -22 | c.329 others(43): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FAT3_chr11_92219818_92901473 | 92521236 | ATTTTATT others(15): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG03195.hp2 |
a0001a0035 | a0001c0084a0035c0085 | a0001c0084t0014a0035c0085t0014 | a0001c0084t0014g0107a0035c0085t0014g0108 | 2 | 118 | 0.0170 | -22 | c.329 others(41): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FAT3_chr11_92219818_92901473 | 92785758 | AGTCAGTT others(15): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG03209.hp2 |
a0001a0048 | a0001c0014a0048c0069 | a0001c0014t0034a0048c0069t0046 | a0001c0014t0034g0062a0048c0069t0046g0056 | 2 | 118 | 0.0170 | -22 | c.433 others(41): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FAXC_chr6_99266168_99354674 | 99293665 | AGTGTGTG others(15): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0151 | a0001c0001t0151g0383 | 1 | 398 | 0.0025 | -22 | c.824 others(39): Show |
FAXC | ENSG00000146267.12 | transcript | ENST00000389677.6 | protein_coding | 4/5 | chr6 | TogoVar | ||||||
FAXC_chr6_99266168_99354674 | 99317954 | TGGTATAG others(15): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(98): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(41): Show | a0001c0001t0004g0228a0001c0001t0005g0007a0001c0001t0005g0088others(94): Show | 101 | 398 | 0.2538 | -22 | c.823 others(39): Show |
FAXC | ENSG00000146267.12 | transcript | ENST00000389677.6 | protein_coding | 4/5 | chr6 | TogoVar | ||||||
FBLL1_chr5_168524305_168535634 | 168524956 | ATATATAT others(15): Show |
A | upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 460 | 0.0022 | -22 | c.-45 others(33): Show |
FBLL1 | ENSG00000188573.8 | transcript | ENST00000338333.5 | protein_coding | 4348 | chr5 | TogoVar | ||||||
FBLL1_chr5_168524305_168535634 | 168524968 | ATATATAT others(15): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0000 | 1 | 460 | 0.0022 | -22 | c.-45 others(33): Show |
FBLL1 | ENSG00000188573.8 | transcript | ENST00000338333.5 | protein_coding | 4336 | chr5 | TogoVar | ||||||
FBLN1_chr22_45497883_45606135 | 45555250 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG01109.hp2 HG01243.hp2 others(10): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(4): Show | a0001c0001t0001g0018a0001c0001t0001g0189a0001c0001t0001g0257others(10): Show | 13 | 346 | 0.0376 | -22 | c.169 others(41): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FBLN1_chr22_45497883_45606135 | 45568781 | CCTCCTGT others(15): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02630.hp2 HG02723.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0022 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0001g0332a0001c0001t0003g0303a0001c0001t0009g0279others(2): Show | 5 | 346 | 0.0145 | -22 | c.169 others(41): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FBLN7_chr2_112133385_112193218 | 112138817 | CGTCCCTC others(15): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(239): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0012others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(218): Show | 242 | 346 | 0.6994 | -22 | c.75+ others(35): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FBLN7_chr2_112133385_112193218 | 112139894 | CCGCCTCT others(15): Show |
C | intron_variant | MODIFIER | NA18990.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096a0001c0001t0001g0097 | 2 | 346 | 0.0058 | -22 | c.75+ others(37): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FBLN7_chr2_112133385_112193218 | 112160754 | ACACACGC others(15): Show |
A | intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0163 | 1 | 346 | 0.0029 | -22 | c.235 others(37): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FBN2_chr5_128252909_128543245 | 128310384 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0040 | 1 | 236 | 0.0042 | -22 | c.507 others(39): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128310386 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0021 | a0021c0067 | a0021c0067t0004 | a0021c0067t0004g0098 | 1 | 236 | 0.0042 | -22 | c.507 others(39): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128310388 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164a0001c0001t0001g0226 | 2 | 236 | 0.0085 | -22 | c.507 others(39): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128408987 | TAAACTCC others(15): Show |
T | intron_variant | MODIFIER | NA18986.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0215 | 1 | 236 | 0.0042 | -22 | c.953 others(37): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128479970 | CTCTCTCT others(15): Show |
C | intron_variant | MODIFIER | HG01361.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0209 | 1 | 236 | 0.0042 | -22 | c.629 others(41): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128479972 | CTCTCTAT others(15): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG01928.hp2 HG02273.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184a0001c0001t0001g0186a0001c0001t0001g0226 | 3 | 236 | 0.0127 | -22 | c.629 others(41): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | TogoVar |