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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERICH1_chr8_659200_736224 | 669361 | AGACGCCT others(31): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG03098.hp1 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0236a0002c0005t0001g0237 | 2 | 378 | 0.0053 | -38 | c.106 others(55): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4/5 | chr8 | TogoVar | ||||||
ERICH2_chr2_170765378_170803977 | 170767324 | GCTCCGCC others(31): Show |
G | upstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 390 | 0.0026 | -38 | c.-33 others(49): Show |
ERICH2 | ENSG00000204334.8 | transcript | ENST00000697325.1 | protein_coding | 3053 | chr2 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98073478 | ATATATAT others(31): Show |
A | intron_variant | MODIFIER | HG01943.hp1 HG03579.hp1 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0229a0001c0001t0001g0366a0001c0001t0002g0262 | 3 | 442 | 0.0068 | -38 | c.58+ others(53): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ERP27_chr12_14909039_14943537 | 14914575 | TGTGCGTG others(31): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0088a0001c0001t0013g0089 | 2 | 402 | 0.0050 | -38 | c.*12 others(47): Show |
ERP27 | ENSG00000139055.7 | transcript | ENST00000266397.7 | protein_coding | 7/7 | 122 | chr12 | TogoVar | |||||
ERP44_chr9_99974185_100104000 | 99974683 | TAAGAGAG others(31): Show |
T | downstream_gene_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 220 | 0.0046 | -38 | c.*78 others(49): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 4501 | chr9 | TogoVar | ||||||
ERVW-1_chr7_92463380_92482946 | 92467637 | AAGGGAGA others(31): Show |
A | downstream_gene_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0003 | 1 | 422 | 0.0024 | -38 | c.*10 others(49): Show |
ERVW-1 | ENSG00000242950.7 | transcript | ENST00000603053.2 | protein_coding | 742 | chr7 | TogoVar | ||||||
ESCO2_chr8_27769554_27810316 | 27802621 | AAAAAAAA others(31): Show |
A | intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0078 | 1 | 380 | 0.0026 | -38 | c.167 others(55): Show |
ESCO2 | ENSG00000171320.15 | transcript | ENST00000305188.13 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ESYT2_chr7_158725997_158834509 | 158814287 | TTATATAT others(31): Show |
T | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 370 | 0.0027 | -38 | c.330 others(57): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1/22 | chr7 | TogoVar | ||||||
ESYT2_chr7_158725997_158834509 | 158814309 | ATATATAT others(31): Show |
A | intron_variant | MODIFIER | HG01952.hp2 HG02257.hp1 HG02896.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0027others(1): Show | a0001c0001t0025a0001c0008t0034a0002c0027t0044others(1): Show | a0001c0001t0025g0185a0001c0008t0034g0225a0002c0027t0044g0194others(1): Show | 4 | 370 | 0.0108 | -38 | c.330 others(57): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1/22 | chr7 | TogoVar | ||||||
ETS1_chr11_128453765_128592558 | 128478343 | AAGGAAGG others(31): Show |
A | intron_variant | MODIFIER | HG01346.hp2 HG02630.hp1 HG02630.hp2 others(2): Show |
a0001 | a0001c0002a0001c0004a0001c0008 | a0001c0002t0010a0001c0004t0014a0001c0008t0010 | a0001c0002t0010g0233a0001c0004t0014g0037a0001c0004t0014g0134others(2): Show | 5 | 286 | 0.0175 | -38 | c.112 others(57): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 8/9 | chr11 | TogoVar | ||||||
EVA1C_chr21_32407706_32520387 | 32477718 | CACCTCCC others(31): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0341 | 1 | 346 | 0.0029 | -38 | c.634 others(55): Show |
EVA1C | ENSG00000166979.13 | transcript | ENST00000300255.7 | protein_coding | 4/7 | chr21 | TogoVar | ||||||
EXOC3L4_chr14_103089725_103115559 | 103109252 | TCCCTCCC others(31): Show |
T | intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0295 | 1 | 404 | 0.0025 | -38 | c.197 others(55): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133823857 | ATATATAT others(31): Show |
A | intron_variant | MODIFIER | HG03139.hp1 NA18945.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0052 | 2 | 102 | 0.0196 | -38 | c.173 others(57): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133823885 | TATATATA others(31): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0096 | 1 | 102 | 0.0098 | -38 | c.173 others(57): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133857287 | ATATATAT others(31): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG03516.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0014a0001c0005t0007 | a0001c0003t0014g0049a0001c0005t0007g0025 | 2 | 102 | 0.0196 | -38 | c.173 others(59): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC6B_chr2_72170984_72831033 | 72401582 | CATATATA others(31): Show |
C | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0067 | 1 | 104 | 0.0096 | -38 | c.198 others(59): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 18/21 | chr2 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72631451 | TATATATA others(31): Show |
T | intron_variant | MODIFIER | HG01981.hp2 HG02976.hp2 HG03492.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0025a0001c0003t0001 | a0001c0001t0002g0037a0001c0001t0025g0059a0001c0003t0001g0095 | 3 | 104 | 0.0289 | -38 | c.670 others(57): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 6/21 | chr2 | TogoVar | ||||||
EXOG_chr3_38491340_38531303 | 38492731 | TACACACA others(31): Show |
T | upstream_gene_variant | MODIFIER | HG02523.hp1 HG03654.hp1 HG04228.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0014 | a0001c0001t0002g0001a0001c0001t0002g0007a0001c0001t0002g0020others(6): Show | 23 | 412 | 0.0558 | -38 | c.-36 others(49): Show |
EXOG | ENSG00000157036.13 | transcript | ENST00000287675.10 | protein_coding | 3608 | chr3 | TogoVar | ||||||
EXOG_chr3_38491340_38531303 | 38529138 | GAATTTGA others(31): Show |
G | downstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 412 | 0.0024 | -38 | c.*47 others(49): Show |
EXOG | ENSG00000157036.13 | transcript | ENST00000287675.10 | protein_coding | 2836 | chr3 | TogoVar | ||||||
EYA1_chr8_71192433_71367069 | 71364939 | CATATATA others(31): Show |
C | upstream_gene_variant | MODIFIER | HG01123.hp1 HG03490.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0221a0001c0011t0001g0222 | 2 | 232 | 0.0086 | -38 | c.-33 others(49): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 2871 | chr8 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46987956 | CTCTCTCT others(31): Show |
C | intron_variant | MODIFIER | HG01361.hp1 HG02280.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0091a0001c0002t0001g0143 | 2 | 238 | 0.0084 | -38 | c.-10 others(55): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EZR_chr6_158760748_158824368 | 158803582 | CATATATA others(31): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 312 | 0.0032 | -38 | c.13- others(55): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 2/13 | chr6 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6316078 | CATATATA others(31): Show |
C | intron_variant | MODIFIER | HG02074.hp1 HG03209.hp2 |
a0002a0006 | a0002c0002a0006c0026 | a0002c0002t0001a0006c0026t0002 | a0002c0002t0001g0183a0006c0026t0002g0287 | 2 | 292 | 0.0069 | -38 | c.130 others(55): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 2/14 | chr6 | TogoVar | ||||||
FAAH2_chrX_57281706_57494193 | 57352044 | ATATGTGT others(31): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080a0001c0001t0001g0081a0001c0001t0001g0128 | 3 | 282 | 0.0106 | -38 | c.742 others(57): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FAF2_chr5_176443385_176515074 | 176451837 | TATATACA others(31): Show |
T | intron_variant | MODIFIER | HG02922.hp2 HG03453.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0012a0001c0001t0014g0013a0001c0001t0014g0014 | 3 | 372 | 0.0081 | -38 | c.63+ others(53): Show |
FAF2 | ENSG00000113194.13 | transcript | ENST00000261942.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FAM107B_chr10_14513557_14779897 | 14767063 | GAGAGAGA others(31): Show |
G | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0014 | 1 | 272 | 0.0037 | -38 | c.411 others(55): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170394662 | CGCCTCCG others(31): Show |
C | intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0079 | 1 | 289 | 0.0035 | -38 | c.260 others(55): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FAM135B_chr8_138125023_138502261 | 138425982 | TATATATA others(31): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00673.hp2 others(56): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0003t0003a0001c0003t0010a0001c0003t0018others(38): Show | a0001c0003t0003g0016a0001c0003t0003g0067a0001c0003t0003g0074others(56): Show | 59 | 212 | 0.2783 | -38 | c.-19 others(57): Show |
FAM135B | ENSG00000147724.12 | transcript | ENST00000395297.6 | protein_coding | 1/19 | chr8 | TogoVar | ||||||
FAM149A_chr4_186099704_186180337 | 186124405 | CTCCCCGC others(31): Show |
C | intron_variant | MODIFIER | NA18998.hp2 | a0005 | a0005c0006 | a0005c0006t0007 | a0005c0006t0007g0056 | 1 | 390 | 0.0026 | -38 | c.566 others(57): Show |
FAM149A | ENSG00000109794.14 | transcript | ENST00000706927.1 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
FAM149A_chr4_186099704_186180337 | 186136938 | CTCTCTCT others(31): Show |
C | intron_variant | MODIFIER | HG03195.hp1 HG03516.hp1 |
a0005a0027 | a0005c0054a0027c0034 | a0005c0054t0075a0027c0034t0004 | a0005c0054t0075g0236a0027c0034t0004g0375 | 2 | 390 | 0.0051 | -38 | c.567 others(57): Show |
FAM149A | ENSG00000109794.14 | transcript | ENST00000706927.1 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
FAM151B_chr5_80483100_80547563 | 80538449 | TCTTTCTT others(31): Show |
T | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 356 | 0.0028 | -38 | c.672 others(55): Show |
FAM151B | ENSG00000152380.10 | transcript | ENST00000282226.5 | protein_coding | 5/5 | chr5 | TogoVar | ||||||
FAM166B_chr9_35556831_35568878 | 35562114 | CTGTCACA others(31): Show |
C | intron_variant | MODIFIER | HG00558.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0024 | 1 | 436 | 0.0023 | -38 | c.740 others(51): Show |
FAM166B | ENSG00000215187.13 | transcript | ENST00000399742.7 | protein_coding | 5/5 | chr9 | TogoVar | ||||||
FAM174B_chr15_92612448_92660775 | 92631243 | TATATTAT others(31): Show |
T | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0021a0001c0001t0030 | a0001c0001t0007g0044a0001c0001t0021g0042a0001c0001t0030g0045 | 3 | 394 | 0.0076 | -38 | c.345 others(53): Show |
FAM174B | ENSG00000185442.13 | transcript | ENST00000327355.6 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
FAM178B_chr2_96870885_96991580 | 96905830 | ATATATAT others(31): Show |
A | intron_variant | MODIFIER | HG02148.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0189 | 1 | 250 | 0.0040 | -38 | c.156 others(57): Show |
FAM178B | ENSG00000168754.15 | transcript | ENST00000490605.3 | protein_coding | 12/16 | chr2 | TogoVar | ||||||
FAM178B_chr2_96870885_96991580 | 96905832 | ATATATAT others(31): Show |
A | intron_variant | MODIFIER | HG02735.hp1 | a0013 | a0013c0022 | a0013c0022t0001 | a0013c0022t0001g0179 | 1 | 250 | 0.0040 | -38 | c.156 others(57): Show |
FAM178B | ENSG00000168754.15 | transcript | ENST00000490605.3 | protein_coding | 12/16 | chr2 | TogoVar | ||||||
FAM227B_chr15_49321970_49625818 | 49624819 | CTAACGTG others(31): Show |
C | upstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 294 | 0.0034 | -38 | c.-42 others(49): Show |
FAM227B | ENSG00000166262.16 | transcript | ENST00000299338.11 | protein_coding | 4002 | chr15 | TogoVar | ||||||
FAM78B_chr1_166064299_166172001 | 166109830 | ATGTATAT others(31): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG01257.hp2 HG01358.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0194a0001c0001t0001g0224a0001c0001t0001g0277others(10): Show | 13 | 318 | 0.0409 | -38 | c.264 others(57): Show |
FAM78B | ENSG00000188859.7 | transcript | ENST00000354422.4 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
FANCD2OS_chr3_10098937_10113255 | 10105761 | AAAAAAAA others(31): Show |
A | intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 | 1 | 346 | 0.0029 | -38 | c.-8- others(52): Show |
FANCD2OS | ENSG00000163705.13 | transcript | ENST00000450660.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
FANCD2_chr3_10021437_10106932 | 10105761 | AAAAAAAA others(31): Show |
A | downstream_gene_variant | MODIFIER | HG01975.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0173 | 1 | 242 | 0.0041 | -38 | c.*45 others(49): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 3830 | chr3 | TogoVar | ||||||
FANCL_chr2_58154247_58246325 | 58217187 | TATATATA others(31): Show |
T | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0185 | 1 | 390 | 0.0026 | -38 | c.374 others(55): Show |
FANCL | ENSG00000115392.13 | transcript | ENST00000233741.9 | protein_coding | 5/13 | chr2 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98350982 | ACCCTGCC others(31): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG01192.hp2 HG01891.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(13): Show | a0001c0001t0002g0039a0001c0001t0002g0040a0001c0001t0005g0164others(15): Show | 18 | 218 | 0.0826 | -38 | c.276 others(55): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FARP1_chr13_98138094_98460176 | 98378901 | ATATATAT others(31): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01192.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0015others(20): Show | a0001c0001t0004g0179a0001c0001t0011g0001a0001c0001t0015g0080others(28): Show | 31 | 218 | 0.1422 | -38 | c.496 others(55): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FASTKD3_chr5_7854159_7874031 | 7866562 | CATATTGC others(31): Show |
C | intron_variant | MODIFIER | HG04115.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0071 | 1 | 462 | 0.0022 | -38 | c.143 others(53): Show |
FASTKD3 | ENSG00000124279.12 | transcript | ENST00000264669.10 | protein_coding | 2/6 | chr5 | TogoVar | ||||||
FAT1_chr4_186582794_186728856 | 186645366 | CATATATA others(31): Show |
C | intron_variant | MODIFIER | HG02738.hp2 HG03471.hp1 |
a0022a0118 | a0022c0017a0118c0157 | a0022c0017t0010a0118c0157t0045 | a0022c0017t0010g0283a0118c0157t0045g0021 | 2 | 338 | 0.0059 | -38 | c.358 others(57): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 3/26 | chr4 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92412714 | TATATATA others(31): Show |
T | intron_variant | MODIFIER | HG02809.hp1 NA18522.hp2 NA19240.hp2 |
a0003a0004 | a0003c0019a0003c0032a0004c0012 | a0003c0019t0058a0003c0032t0013a0004c0012t0002 | a0003c0019t0058g0110a0003c0032t0013g0109a0004c0012t0002g0054 | 3 | 118 | 0.0254 | -38 | c.329 others(59): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FBN2_chr5_128252909_128543245 | 128479958 | CTCTCTCT others(31): Show |
C | intron_variant | MODIFIER | HG03017.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0155 | 1 | 236 | 0.0042 | -38 | c.629 others(57): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128479960 | CTCTCTCT others(31): Show |
C | intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0037 | a0002c0037t0023 | a0002c0037t0023g0034 | 1 | 236 | 0.0042 | -38 | c.629 others(57): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128479964 | CTCTCTCT others(31): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0003 | a0003c0016 | a0003c0016t0037 | a0003c0016t0037g0234 | 1 | 236 | 0.0042 | -38 | c.629 others(57): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128479966 | CTCTCTCT others(31): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0013 | a0013c0047 | a0013c0047t0002 | a0013c0047t0002g0059 | 1 | 236 | 0.0042 | -38 | c.629 others(57): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | TogoVar | ||||||
FBXO34_chr14_55266421_55358611 | 55318333 | CATATATA others(31): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00673.hp1 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0002others(2): Show | a0001c0001t0001g0219a0001c0001t0001g0220a0001c0001t0001g0240others(22): Show | 25 | 334 | 0.0749 | -38 | c.-10 others(57): Show |
FBXO34 | ENSG00000178974.11 | transcript | ENST00000313833.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |