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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FGD4_chr12_32394558_32651050 | 32599534 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0005 | a0002c0005t0008 | a0002c0005t0008g0193 | 1 | 232 | 0.0043 | 27 | c.110 others(44): Show |
FGD4 | ENSG00000139132.16 | transcript | ENST00000534526.7 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
FGD5_chr3_14813962_14939571 | 14853636 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0242 | 1 | 342 | 0.0029 | 27 | c.252 others(48): Show |
FGD5 | ENSG00000154783.12 | transcript | ENST00000285046.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FGD6_chr12_95071749_95222467 | 95083012 | A | AAAAATAT others(20): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0002 | a0002c0002t0030 | a0002c0002t0030g0251 | 1 | 384 | 0.0026 | 27 | c.425 others(46): Show |
FGD6 | ENSG00000180263.14 | transcript | ENST00000343958.9 | protein_coding | 20/20 | chr12 | TogoVar | ||||||
FGD6_chr12_95071749_95222467 | 95186225 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02074.hp2 NA19088.hp2 |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0334a0003c0004t0004g0353 | 2 | 384 | 0.0052 | 27 | c.244 others(48): Show |
FGD6 | ENSG00000180263.14 | transcript | ENST00000343958.9 | protein_coding | 2/20 | chr12 | TogoVar | ||||||
FGF12_chr3_192134390_192732541 | 192158367 | T | TTTCTTTC others(20): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03471.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0017a0001c0001t0032 | a0001c0001t0016g0035a0001c0001t0017g0009a0001c0001t0032g0079 | 3 | 90 | 0.0333 | 27 | c.427 others(46): Show |
FGF12 | ENSG00000114279.15 | transcript | ENST00000445105.7 | protein_coding | 5/5 | chr3 | TogoVar | ||||||
FGF12_chr3_192134390_192732541 | 192158651 | C | CCCTTCCT others(20): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02647.hp2 HG02818.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0032a0001c0001t0033 | a0001c0001t0016g0035a0001c0001t0016g0060a0001c0001t0032g0079others(1): Show | 4 | 90 | 0.0444 | 27 | c.427 others(46): Show |
FGF12 | ENSG00000114279.15 | transcript | ENST00000445105.7 | protein_coding | 5/5 | chr3 | TogoVar | ||||||
FGF12_chr3_192134390_192732541 | 192158655 | C | CCCTTCCC others(20): Show |
intron_variant | MODIFIER | HG04115.hp2 HG04204.hp1 NA18962.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0053a0001c0001t0008g0082a0001c0001t0008g0084 | 3 | 90 | 0.0333 | 27 | c.427 others(46): Show |
FGF12 | ENSG00000114279.15 | transcript | ENST00000445105.7 | protein_coding | 5/5 | chr3 | TogoVar | ||||||
FGF12_chr3_192134390_192732541 | 192158666 | C | CTCCCCCT others(20): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01258.hp2 HG01261.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(5): Show | a0001c0001t0004g0050a0001c0001t0006g0046a0001c0001t0006g0049others(10): Show | 13 | 90 | 0.1444 | 27 | c.427 others(46): Show |
FGF12 | ENSG00000114279.15 | transcript | ENST00000445105.7 | protein_coding | 5/5 | chr3 | TogoVar | ||||||
FGF12_chr3_192134390_192732541 | 192279254 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0015 | 1 | 90 | 0.0111 | 27 | c.228 others(46): Show |
FGF12 | ENSG00000114279.15 | transcript | ENST00000445105.7 | protein_coding | 4/5 | chr3 | TogoVar | ||||||
FGF12_chr3_192134390_192732541 | 192512835 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0071 | 1 | 90 | 0.0111 | 27 | c.14- others(46): Show |
FGF12 | ENSG00000114279.15 | transcript | ENST00000445105.7 | protein_coding | 2/5 | chr3 | TogoVar | ||||||
FGF12_chr3_192134390_192732541 | 192512860 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0049 | 1 | 90 | 0.0111 | 27 | c.14- others(46): Show |
FGF12 | ENSG00000114279.15 | transcript | ENST00000445105.7 | protein_coding | 2/5 | chr3 | TogoVar | ||||||
FGF12_chr3_192134390_192732541 | 192537950 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017a0001c0001t0020others(1): Show | a0001c0001t0001g0062a0001c0001t0017g0016a0001c0001t0020g0054others(1): Show | 4 | 90 | 0.0444 | 27 | c.14- others(46): Show |
FGF12 | ENSG00000114279.15 | transcript | ENST00000445105.7 | protein_coding | 2/5 | chr3 | TogoVar | ||||||
FGF13_chrX_138609727_138716717 | 138625458 | T | TTATATAT others(20): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG01243.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011a0001c0001t0033others(9): Show | a0001c0001t0005g0003a0001c0001t0005g0069a0001c0001t0005g0071others(19): Show | 24 | 240 | 0.1000 | 27 | c.*73 others(38): Show |
FGF13 | ENSG00000129682.16 | transcript | ENST00000315930.11 | protein_coding | 5/5 | 7391 | chrX | TogoVar | |||||
FGF14_chr13_101705804_101921945 | 101816269 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0009 | 1 | 266 | 0.0038 | 27 | c.408 others(46): Show |
FGF14 | ENSG00000102466.17 | transcript | ENST00000376143.5 | protein_coding | 3/4 | chr13 | TogoVar | ||||||
FGF18_chr5_171414647_171462626 | 171461629 | C | CTTTCTTT others(20): Show |
downstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 388 | 0.0026 | 27 | c.*48 others(38): Show |
FGF18 | ENSG00000156427.8 | transcript | ENST00000274625.6 | protein_coding | 4004 | chr5 | TogoVar | ||||||
FGF18_chr5_171414647_171462626 | 171461629 | C | CTTTCTTT others(20): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02647.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0018a0001c0001t0001g0022others(11): Show | 14 | 388 | 0.0361 | 27 | c.*48 others(38): Show |
FGF18 | ENSG00000156427.8 | transcript | ENST00000274625.6 | protein_coding | 4004 | chr5 | TogoVar | ||||||
FGF18_chr5_171414647_171462626 | 171461630 | T | TTTCTTTC others(20): Show |
downstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 388 | 0.0026 | 27 | c.*48 others(38): Show |
FGF18 | ENSG00000156427.8 | transcript | ENST00000274625.6 | protein_coding | 4005 | chr5 | TogoVar | ||||||
FGF2_chr4_122821831_122903236 | 122899044 | A | ATTTTTTT others(20): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG01261.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0026 | a0001c0001t0002g0061a0001c0001t0002g0073a0001c0001t0006g0230others(1): Show | 4 | 256 | 0.0156 | 27 | c.*66 others(38): Show |
FGF2 | ENSG00000138685.18 | transcript | ENST00000644866.2 | protein_coding | 809 | chr4 | TogoVar | ||||||
FGFR4_chr5_177081915_177103144 | 177097109 | T | TTCCTCCT others(20): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0004 | a0004c0003 | a0004c0003t0005 | a0004c0003t0005g0203 | 1 | 372 | 0.0027 | 27 | c.215 others(44): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FGFR4_chr5_177081915_177103144 | 177102698 | T | TGAGACCA others(20): Show |
downstream_gene_variant | MODIFIER | NA18997.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0136 | 1 | 372 | 0.0027 | 27 | c.*50 others(38): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 4555 | chr5 | TogoVar | ||||||
FGGY_chr1_59292094_59767730 | 59325375 | C | CAACAACA others(20): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0118 | 1 | 166 | 0.0060 | 27 | c.201 others(44): Show |
FGGY | ENSG00000172456.18 | transcript | ENST00000303721.12 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
FGL1_chr8_17859389_17900524 | 17872302 | T | TTTATTAT others(20): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01167.hp1 others(16): Show |
a0003a0004a0008others(1): Show | a0003c0003a0004c0004a0008c0008others(1): Show | a0003c0003t0001a0004c0004t0001a0008c0008t0002others(1): Show | a0003c0003t0001g0012a0003c0003t0001g0039a0003c0003t0001g0161others(15): Show | 19 | 366 | 0.0519 | 27 | c.502 others(44): Show |
FGL1 | ENSG00000104760.17 | transcript | ENST00000427924.5 | protein_coding | 5/7 | chr8 | TogoVar | ||||||
FHAD1_chr1_15242223_15403328 | 15389447 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0038 | a0038c0129 | a0038c0129t0007 | a0038c0129t0007g0235 | 1 | 294 | 0.0034 | 27 | c.426 others(46): Show |
FHAD1 | ENSG00000142621.21 | transcript | ENST00000688493.1 | protein_coding | 32/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
FHDC1_chr4_152931323_152984671 | 152949124 | T | TAATAAGA others(20): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0104 | 1 | 438 | 0.0023 | 27 | c.499 others(44): Show |
FHDC1 | ENSG00000137460.10 | transcript | ENST00000511601.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
FHIP1A_chr4_151404176_151675503 | 151445849 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0027 | 1 | 252 | 0.0040 | 27 | c.-35 others(46): Show |
FHIP1A | ENSG00000164142.16 | transcript | ENST00000435205.6 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
FHIP1A_chr4_151404176_151675503 | 151445873 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0079 | 1 | 252 | 0.0040 | 27 | c.-35 others(46): Show |
FHIP1A | ENSG00000164142.16 | transcript | ENST00000435205.6 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
FHIP1A_chr4_151404176_151675503 | 151615260 | T | TTGCCTTG others(20): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(178): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(56): Show | a0001c0001t0001g0217a0001c0001t0001g0220a0001c0001t0001g0224others(178): Show | 181 | 252 | 0.7183 | 27 | c.979 others(46): Show |
FHIP1A | ENSG00000164142.16 | transcript | ENST00000435205.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
FHIP2B_chr8_22084150_22109911 | 22104831 | T | TAAAAAAA others(20): Show |
3_prime_UTR_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0038 | 1 | 394 | 0.0025 | 27 | c.*19 others(38): Show |
FHIP2B | ENSG00000158863.22 | transcript | ENST00000289921.8 | protein_coding | 17/17 | 1919 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
FHIP2B_chr8_22084150_22109911 | 22106419 | C | CAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 394 | 0.0025 | 27 | c.*34 others(38): Show |
FHIP2B | ENSG00000158863.22 | transcript | ENST00000289921.8 | protein_coding | 1509 | chr8 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60130784 | G | GTATATAC others(20): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02622.hp2 HG03139.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0025others(2): Show | 5 | 46 | 0.1087 | 27 | c.104 others(48): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 5/9 | chr3 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60173918 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0032 | 1 | 46 | 0.0217 | 27 | c.104 others(48): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 5/9 | chr3 | TogoVar | ||||||
FHL2_chr2_105355826_105404051 | 105395756 | C | CAGAATTA others(20): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 | 1 | 448 | 0.0022 | 27 | c.-25 others(42): Show |
FHL2 | ENSG00000115641.19 | transcript | ENST00000530340.6 | protein_coding | 2/6 | chr2 | TogoVar | ||||||
FHOD3_chr18_36292713_36785220 | 36763219 | T | TACGTTAT others(20): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0089 | 1 | 168 | 0.0060 | 27 | c.462 others(46): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
FHOD3_chr18_36292713_36785220 | 36763219 | T | TACGTTAT others(20): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG02486.hp1 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0014a0001c0022others(6): Show | a0001c0001t0001a0001c0014t0001a0001c0022t0001others(8): Show | a0001c0001t0001g0144a0001c0014t0001g0069a0001c0014t0001g0097others(9): Show | 12 | 168 | 0.0714 | 27 | c.462 others(46): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
FILIP1_chr6_75303090_75498800 | 75480263 | A | ACATTTTT others(20): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG00738.hp1 others(81): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0013a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(81): Show | 84 | 306 | 0.2745 | 27 | c.-7+ others(44): Show |
FILIP1 | ENSG00000118407.15 | transcript | ENST00000237172.12 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
FKBP3_chr14_45110599_45139481 | 45127115 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 304 | 0.0033 | 27 | c.318 others(44): Show |
FKBP3 | ENSG00000100442.11 | transcript | ENST00000396062.4 | protein_coding | 3/6 | chr14 | TogoVar | ||||||
FLNB_chr3_58003422_58177251 | 58100373 | A | AAATATAT others(20): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03471.hp1 |
a0002 | a0002c0008 | a0002c0008t0002a0002c0008t0014 | a0002c0008t0002g0155a0002c0008t0014g0110 | 2 | 180 | 0.0111 | 27 | c.134 others(46): Show |
FLNB | ENSG00000136068.16 | transcript | ENST00000295956.9 | protein_coding | 8/45 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FLNB_chr3_58003422_58177251 | 58136746 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0003 | a0003c0009 | a0003c0009t0004 | a0003c0009t0004g0017 | 1 | 180 | 0.0056 | 27 | c.486 others(44): Show |
FLNB | ENSG00000136068.16 | transcript | ENST00000295956.9 | protein_coding | 28/45 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FLRT2_chr14_85525144_85659428 | 85643375 | C | CTTCCTTC others(20): Show |
3_prime_UTR_variant | MODIFIER | HG01361.hp2 HG02257.hp1 HG02293.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0188a0001c0001t0304a0002c0002t0116others(1): Show | a0001c0001t0188g0185a0001c0001t0304g0177a0002c0002t0116g0009others(1): Show | 4 | 338 | 0.0118 | 27 | c.*19 others(40): Show |
FLRT2 | ENSG00000185070.12 | transcript | ENST00000330753.6 | protein_coding | 2/2 | 19881 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||
FLT1_chr13_28295346_28500128 | 28453035 | T | TCCCCCTC others(20): Show |
intron_variant | MODIFIER | HG00323.hp2 NA18953.hp1 NA18999.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0165a0001c0001t0001g0179a0001c0002t0001g0175 | 3 | 228 | 0.0132 | 27 | c.388 others(46): Show |
FLT1 | ENSG00000102755.13 | transcript | ENST00000282397.9 | protein_coding | 3/29 | chr13 | TogoVar | ||||||
FLYWCH1_chr16_2906931_2956208 | 2942651 | A | AGCATCTG others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
a0001a0002a0004others(12): Show | a0001c0001a0001c0002a0001c0003others(34): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(109): Show | a0001c0001t0003g0076a0001c0001t0003g0077a0001c0001t0004g0002others(247): Show | 258 | 416 | 0.6202 | 27 | c.211 others(46): Show |
FLYWCH1 | ENSG00000059122.17 | transcript | ENST00000253928.14 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FMN1_chr15_32760544_33199714 | 32777594 | C | CTTTATAT others(20): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0040 | a0040c0057 | a0040c0057t0053 | a0040c0057t0053g0042 | 1 | 196 | 0.0051 | 27 | c.413 others(44): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 19/20 | chr15 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185033 | C | CCCCTTCT others(20): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0010 | a0010c0003 | a0010c0003t0001 | a0010c0003t0001g0016 | 1 | 174 | 0.0058 | 27 | c.193 others(46): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
FMN2_chr1_240086883_240480187 | 240252953 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0004 | a0004c0114 | a0004c0114t0006 | a0004c0114t0006g0108 | 1 | 174 | 0.0058 | 27 | c.406 others(46): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
FMN2_chr1_240086883_240480187 | 240439279 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0009 | a0001c0009t0006 | a0001c0009t0006g0131 | 1 | 174 | 0.0058 | 27 | c.506 others(46): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
FMR1NB_chrX_147976337_148031665 | 147981234 | T | TCACGGAC others(20): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp1 others(67): Show |
a0000a0001a0002 | a0000c0004a0001c0001a0002c0002 | a0000c0004t0001a0001c0001t0001a0002c0002t0001 | a0000c0004t0001g0196a0001c0001t0001g0005a0001c0001t0001g0006others(60): Show | 70 | 275 | 0.2546 | 27 | c.-16 others(36): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 102 | chrX | TogoVar | ||||||
FMR1_chrX_147906919_147956125 | 147912049 | C | CGCGGCGG others(20): Show |
5_prime_UTR_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0001 | 1 | 304 | 0.0033 | 27 | c.-10 others(36): Show |
FMR1 | ENSG00000102081.16 | transcript | ENST00000370475.9 | protein_coding | 1/17 | 105 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
FMR1_chrX_147906919_147956125 | 147912049 | C | CGCGGCGG others(20): Show |
5_prime_UTR_variant | MODIFIER | HG00639.hp1 HG01891.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0006a0001c0001t0009g0089a0001c0001t0009g0091others(1): Show | 6 | 304 | 0.0197 | 27 | c.-12 others(36): Show |
FMR1 | ENSG00000102081.16 | transcript | ENST00000370475.9 | protein_coding | 1/17 | 99 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
FMR1_chrX_147906919_147956125 | 147912051 | C | CGGCGGCG others(20): Show |
5_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(116): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(87): Show | 119 | 304 | 0.3915 | 27 | c.-10 others(36): Show |
FMR1 | ENSG00000102081.16 | transcript | ENST00000370475.9 | protein_coding | 1/17 | 102 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
FMR1_chrX_147906919_147956125 | 147912081 | A | AGGCGGCG others(20): Show |
5_prime_UTR_variant | MODIFIER | HG02293.hp1 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0117a0001c0001t0027g0139 | 2 | 304 | 0.0066 | 27 | c.-95 others(34): Show |
FMR1 | ENSG00000102081.16 | transcript | ENST00000370475.9 | protein_coding | 1/17 | 68 | INFO_REALIGN_3_PRIME | chrX | TogoVar |