view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EYS_chr6_63714980_65712226 | 65278031 | C | CCTTTTCT others(43): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0021 | 1 | 24 | 0.0417 | 50 | c.202 others(71): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | |||||||
EZH2_chr7_148802383_148889291 | 148839053 | T | TAAGGAAG others(43): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0367 | 1 | 380 | 0.0026 | 50 | c.247 others(67): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 3/19 | chr7 | TogoVar | |||||||
F7_chr13_113100791_113125685 | 113111547 | T | TCACAGGG others(43): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03130.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0014 | 3 | 400 | 0.0075 | 50 | c.225 others(65): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
F9_chrX_139525739_139568459 | 139536239 | G | GTATATAT others(43): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01070.hp2 HG01106.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0025 a0001c0001t0001g0028 others(9): Show |
19 | 263 | 0.0722 | 50 | c.89- others(63): Show |
F9 | ENSG00000101981.12 | transcript | ENST00000218099.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50885312 | T | TCTCTCTC others(43): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0012 | 1 | 190 | 0.0053 | 50 | c.46- others(67): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 1/18 | chr1 | TogoVar | |||||||
FAM104A_chr17_73202365_73237394 | 73224920 | G | GACAGGAC others(43): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 400 | 0.0025 | 50 | c.321 others(67): Show |
FAM104A | ENSG00000133193.13 | transcript | ENST00000405159.8 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
FAM104A_chr17_73202365_73237394 | 73224920 | G | GACAGGAC others(43): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02145.hp1 HG02976.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0205 a0002c0004t0001g0188 a0002c0004t0001g0203 |
3 | 400 | 0.0075 | 50 | c.321 others(67): Show |
FAM104A | ENSG00000133193.13 | transcript | ENST00000405159.8 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
FAM104A_chr17_73202365_73237394 | 73224930 | G | GACAGGAC others(43): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02647.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0182 a0001c0001t0005g0183 a0001c0001t0005g0184 others(3): Show |
6 | 400 | 0.0150 | 50 | c.321 others(67): Show |
FAM104A | ENSG00000133193.13 | transcript | ENST00000405159.8 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
FAM107B_chr10_14513557_14779897 | 14737766 | T | TTCTCTCT others(43): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 272 | 0.0037 | 50 | c.411 others(69): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 1/4 | chr10 | TogoVar | |||||||
FAM110B_chr8_57989523_58153784 | 58006923 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0157 | 1 | 300 | 0.0033 | 50 | c.-51 others(71): Show |
FAM110B | ENSG00000169122.12 | transcript | ENST00000519262.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
FAM135A_chr6_70408508_70566174 | 70409625 | C | CATATATA others(43): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0230 | 1 | 268 | 0.0037 | 50 | c.-42 others(61): Show |
FAM135A | ENSG00000082269.17 | transcript | ENST00000418814.7 | protein_coding | 3882 | chr6 | TogoVar | |||||||
FAM13C_chr10_59241133_59367549 | 59304761 | G | GAGGGAAG others(43): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 204 | 0.0049 | 50 | c.444 others(67): Show |
FAM13C | ENSG00000148541.13 | transcript | ENST00000618804.5 | protein_coding | 4/13 | chr10 | TogoVar | |||||||
FAM149A_chr4_186099704_186180337 | 186130293 | C | CTCTCTCT others(43): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0005 | a0005c0006 | a0005c0006t0025 | a0005c0006t0025g0015 | 1 | 390 | 0.0026 | 50 | c.567 others(69): Show |
FAM149A | ENSG00000109794.14 | transcript | ENST00000706927.1 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAM171A1_chr10_15206643_15376289 | 15336562 | C | CTTTTTTT others(43): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0107 | 1 | 303 | 0.0033 | 50 | c.97+ others(67): Show |
FAM171A1 | ENSG00000148468.17 | transcript | ENST00000378116.9 | protein_coding | 1/7 | chr10 | TogoVar | |||||||
FAM174B_chr15_92612448_92660775 | 92631166 | A | ATATTACA others(43): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02004.hp2 |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0006c0010t0012 | a0001c0001t0001g0096 a0006c0010t0012g0094 |
2 | 394 | 0.0051 | 50 | c.345 others(65): Show |
FAM174B | ENSG00000185442.13 | transcript | ENST00000327355.6 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
FAM178B_chr2_96870885_96991580 | 96905828 | A | ATATACGT others(43): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0126 | 1 | 250 | 0.0040 | 50 | c.156 others(69): Show |
FAM178B | ENSG00000168754.15 | transcript | ENST00000490605.3 | protein_coding | 12/16 | chr2 | TogoVar | |||||||
FAM178B_chr2_96870885_96991580 | 96905828 | A | ATATACGT others(43): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01261.hp1 HG02717.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0119 a0004c0004t0001g0124 a0004c0004t0001g0143 |
3 | 250 | 0.0120 | 50 | c.156 others(69): Show |
FAM178B | ENSG00000168754.15 | transcript | ENST00000490605.3 | protein_coding | 12/16 | chr2 | TogoVar | |||||||
FAM178B_chr2_96870885_96991580 | 96905830 | A | ATACGTAT others(43): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0213 | 1 | 250 | 0.0040 | 50 | c.156 others(69): Show |
FAM178B | ENSG00000168754.15 | transcript | ENST00000490605.3 | protein_coding | 12/16 | chr2 | TogoVar | |||||||
FAM184A_chr6_118954763_119083664 | 118969993 | A | ATAAAATA others(43): Show |
intron_variant | MODIFIER | HG01243.hp2 NA18943.hp2 NA18983.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0210 a0001c0001t0001g0246 a0001c0001t0003g0016 others(1): Show |
4 | 286 | 0.0140 | 50 | c.291 others(69): Show |
FAM184A | ENSG00000111879.20 | transcript | ENST00000338891.12 | protein_coding | 14/17 | chr6 | TogoVar | |||||||
FAM184A_chr6_118954763_119083664 | 118970008 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 286 | 0.0035 | 50 | c.291 others(69): Show |
FAM184A | ENSG00000111879.20 | transcript | ENST00000338891.12 | protein_coding | 14/17 | chr6 | TogoVar | |||||||
FAM184B_chr4_17624306_17786621 | 17653919 | A | AGGGAGGG others(43): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02486.hp1 others(10): Show |
a0001a0013a0016 | a0001c0004a0001c0012a0013c0058others(1): Show | a0001c0004t0009a0001c0004t0025a0001c0004t0026others(6): Show | a0001c0004t0009g0017 a0001c0004t0009g0022 a0001c0004t0009g0072 others(10): Show |
13 | 238 | 0.0546 | 50 | c.203 others(67): Show |
FAM184B | ENSG00000047662.5 | transcript | ENST00000265018.4 | protein_coding | 10/17 | chr4 | TogoVar | |||||||
FAM186A_chr12_50322309_50401609 | 50346215 | G | GAGAGAGA others(43): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0025 | a0025c0035 | a0025c0035t0001 | a0025c0035t0001g0060 | 1 | 332 | 0.0030 | 50 | c.650 others(69): Show |
FAM186A | ENSG00000185958.10 | transcript | ENST00000327337.6 | protein_coding | 4/7 | chr12 | TogoVar | |||||||
FAM193A_chr4_2531647_2737573 | 2617262 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0134 | 1 | 330 | 0.0030 | 50 | c.502 others(67): Show |
FAM193A | ENSG00000125386.16 | transcript | ENST00000637812.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAM210A_chr18_13658347_13731558 | 13676164 | G | GCCGTGGT others(43): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0121 | 1 | 326 | 0.0031 | 50 | c.474 others(67): Show |
FAM210A | ENSG00000177150.13 | transcript | ENST00000651643.1 | protein_coding | 2/3 | chr18 | TogoVar | |||||||
FANK1_chr10_125891564_126014592 | 125914280 | C | CATATATA others(43): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0350 | 1 | 370 | 0.0027 | 50 | c.13+ others(67): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
FARP2_chr2_241351285_241499841 | 241366125 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 378 | 0.0027 | 50 | c.-24 others(67): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FARP2_chr2_241351285_241499841 | 241487588 | A | ACCTGGGA others(43): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00621.hp1 others(88): Show |
a0001a0005a0006others(2): Show | a0001c0001a0005c0014a0006c0009others(2): Show | a0001c0001t0001a0001c0001t0004a0005c0014t0001others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0142 a0001c0001t0001g0201 others(88): Show |
91 | 378 | 0.2407 | 50 | c.242 others(69): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FAT1_chr4_186582794_186728856 | 186610685 | A | ATTATATA others(43): Show |
intron_variant | MODIFIER | HG00408.hp2 NA18612.hp2 NA19003.hp2 |
a0002a0064 | a0002c0002a0064c0073 | a0002c0002t0009a0002c0002t0012a0064c0073t0001 | a0002c0002t0009g0300 a0002c0002t0012g0180 a0064c0073t0001g0252 |
3 | 338 | 0.0089 | 50 | c.985 others(67): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 14/26 | chr4 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92412736 | T | TATACACA others(43): Show |
intron_variant | MODIFIER | HG01069.hp2 HG03139.hp2 HG04115.hp1 |
a0001a0004a0032 | a0001c0005a0004c0009a0032c0027 | a0001c0005t0019a0004c0009t0001a0032c0027t0021 | a0001c0005t0019g0089 a0004c0009t0001g0098 a0032c0027t0021g0075 |
3 | 118 | 0.0254 | 50 | c.329 others(71): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92753798 | G | GTGTGTGT others(43): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0036 | a0036c0034 | a0036c0034t0050 | a0036c0034t0050g0079 | 1 | 118 | 0.0085 | 50 | c.367 others(69): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92753798 | G | GTGTGTGT others(43): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0020 | a0003c0020t0086 | a0003c0020t0086g0017 | 1 | 118 | 0.0085 | 50 | c.367 others(69): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FBLN7_chr2_112133385_112193218 | 112139124 | A | AGTGTCCC others(43): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0055 | 1 | 346 | 0.0029 | 50 | c.75+ others(63): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FBN1_chr15_48403313_48650709 | 48468715 | A | ATAGTCTT others(43): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0018 a0001c0001t0010g0225 |
2 | 288 | 0.0069 | 50 | c.446 others(67): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | TogoVar | |||||||
FBN3_chr19_8060402_8154592 | 8086105 | G | GCAGGCAG others(43): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02886.hp2 HG02896.hp1 others(3): Show |
a0023a0042a0052others(1): Show | a0023c0022a0042c0041a0052c0057others(1): Show | a0023c0022t0001a0042c0041t0001a0052c0057t0001others(1): Show | a0023c0022t0001g0020 a0023c0022t0001g0360 a0042c0041t0001g0038 others(3): Show |
6 | 380 | 0.0158 | 50 | c.688 others(65): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 55/63 | chr19 | TogoVar | |||||||
FBN3_chr19_8060402_8154592 | 8130636 | G | GGAAGGAA others(43): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0045 | a0045c0113 | a0045c0113t0001 | a0045c0113t0001g0014 | 1 | 380 | 0.0026 | 50 | c.204 others(67): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar | |||||||
FBN3_chr19_8060402_8154592 | 8130636 | G | GGAAGGAA others(43): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0127 | a0127c0104 | a0127c0104t0001 | a0127c0104t0001g0084 | 1 | 380 | 0.0026 | 50 | c.204 others(67): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar | |||||||
FBN3_chr19_8060402_8154592 | 8130639 | A | AGAAAGAA others(43): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01943.hp1 |
a0001a0152 | a0001c0002a0152c0189 | a0001c0002t0001a0152c0189t0001 | a0001c0002t0001g0115 a0152c0189t0001g0173 |
2 | 380 | 0.0053 | 50 | c.204 others(67): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar | |||||||
FBN3_chr19_8060402_8154592 | 8130659 | G | GGAAAGGA others(43): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01361.hp1 |
a0013a0081 | a0013c0010a0081c0167 | a0013c0010t0001a0081c0167t0002 | a0013c0010t0001g0002 a0081c0167t0002g0045 |
3 | 380 | 0.0079 | 50 | c.204 others(67): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar | |||||||
FBXL17_chr5_107854035_108387098 | 107980664 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0011 | a0001c0011t0004 | a0001c0011t0004g0226 | 1 | 244 | 0.0041 | 50 | c.182 others(71): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
FBXL17_chr5_107854035_108387098 | 108009308 | T | TATAGATA others(43): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0014 | 1 | 244 | 0.0041 | 50 | c.182 others(71): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
FBXL17_chr5_107854035_108387098 | 108177932 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196 | 1 | 244 | 0.0041 | 50 | c.174 others(69): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 6/8 | chr5 | TogoVar | |||||||
FBXO31_chr16_87321987_87388776 | 87365010 | A | AATATATA others(43): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01993.hp1 HG02071.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0116 a0001c0001t0002g0200 a0001c0001t0003g0061 others(2): Show |
5 | 376 | 0.0133 | 50 | c.341 others(67): Show |
FBXO31 | ENSG00000103264.18 | transcript | ENST00000311635.12 | protein_coding | 1/8 | chr16 | TogoVar | |||||||
FBXO33_chr14_39392684_39437433 | 39393333 | C | CTGTAGTT others(43): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0031 | 1 | 390 | 0.0026 | 50 | c.*61 others(61): Show |
FBXO33 | ENSG00000165355.8 | transcript | ENST00000298097.8 | protein_coding | 4350 | chr14 | TogoVar | |||||||
FBXO34_chr14_55266421_55358611 | 55338048 | C | CTTTTTTT others(43): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 334 | 0.0030 | 50 | c.-10 others(69): Show |
FBXO34 | ENSG00000178974.11 | transcript | ENST00000313833.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FCHSD2_chr11_72831745_73147318 | 73142811 | C | CGTGTGTG others(43): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0161 | 1 | 290 | 0.0035 | 50 | c.-93 others(59): Show |
FCHSD2 | ENSG00000137478.15 | transcript | ENST00000409418.9 | protein_coding | 494 | chr11 | TogoVar | |||||||
FCN1_chr9_134898232_134922912 | 134905966 | T | TCCCTCTC others(43): Show |
3_prime_UTR_variant | MODIFIER | HG02622.hp1 | a0003 | a0003c0006 | a0003c0006t0083 | a0003c0006t0083g0146 | 1 | 434 | 0.0023 | 50 | c.*38 others(61): Show |
FCN1 | ENSG00000085265.12 | transcript | ENST00000371806.4 | protein_coding | 9/9 | 3831 | chr9 | TogoVar | ||||||
FDX1_chr11_110424948_110469884 | 110444670 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0147 | 1 | 400 | 0.0025 | 50 | c.310 others(67): Show |
FDX1 | ENSG00000137714.3 | transcript | ENST00000260270.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FDX1_chr11_110424948_110469884 | 110444690 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0161 | 1 | 400 | 0.0025 | 50 | c.310 others(67): Show |
FDX1 | ENSG00000137714.3 | transcript | ENST00000260270.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FDX1_chr11_110424948_110469884 | 110444728 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0291 | 1 | 400 | 0.0025 | 50 | c.310 others(67): Show |
FDX1 | ENSG00000137714.3 | transcript | ENST00000260270.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FDXACB1_chr11_111869056_111884165 | 111882134 | C | CGGGGTGG others(43): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0020 | 1 | 392 | 0.0026 | 50 | c.-30 others(61): Show |
FDXACB1 | ENSG00000255561.7 | transcript | ENST00000260257.9 | protein_coding | 2970 | chr11 | TogoVar |