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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPHA6_chr3_96809594_97766532 | 96998066 | TTAACTTT others(24): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02559.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0019a0001c0002t0025 | a0001c0002t0001g0005a0001c0002t0001g0007a0001c0002t0001g0009others(2): Show | 5 | 82 | 0.0610 | -31 | c.111 others(52): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHB1_chr3_134790260_135265467 | 134916628 | CTGGCGCG others(24): Show |
C | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0114 | 1 | 134 | 0.0075 | -31 | c.59- others(46): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
EPRS1_chr1_219963600_220051505 | 219964390 | TACGAGGG others(24): Show |
T | downstream_gene_variant | MODIFIER | HG01261.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196a0001c0001t0001g0197 | 2 | 358 | 0.0056 | -31 | c.*43 others(42): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 4209 | chr1 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211622991 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02717.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0023 | a0001c0001t0002g0024a0001c0001t0003g0017a0001c0001t0023g0012 | 3 | 56 | 0.0536 | -31 | c.220 others(48): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 18/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212015042 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG03516.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0011 | a0001c0001t0009g0023a0001c0001t0011g0042 | 2 | 56 | 0.0357 | -31 | c.235 others(50): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55720212 | TTCTTCTT others(24): Show |
T | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0047 | 1 | 74 | 0.0135 | -31 | c.271 others(52): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 15/17 | chr3 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44279217 | AATAACAC others(24): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG01106.hp2 HG01256.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0036a0001c0001t0001g0066others(2): Show | 5 | 340 | 0.0147 | -31 | c.831 others(48): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 7/8 | chr1 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44310910 | GTCTCTCT others(24): Show |
G | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0329 | 1 | 340 | 0.0029 | -31 | c.666 others(48): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 5/8 | chr1 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44342827 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 340 | 0.0029 | -31 | c.212 others(48): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98087441 | AGGGAAAA others(24): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG02486.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0024a0001c0001t0001g0026a0001c0001t0001g0055others(4): Show | 7 | 442 | 0.0158 | -31 | c.59- others(46): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ERICH6B_chr13_45536294_45620739 | 45606523 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0288 | 1 | 326 | 0.0031 | -31 | c.-59 others(48): Show |
ERICH6B | ENSG00000165837.12 | transcript | ENST00000298738.3 | protein_coding | 2/14 | chr13 | TogoVar | ||||||
ERICH6_chr3_150654885_150708920 | 150707813 | GTTAACCA others(24): Show |
G | upstream_gene_variant | MODIFIER | NA18995.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0037 | 1 | 348 | 0.0029 | -31 | c.-39 others(42): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 3894 | chr3 | TogoVar | ||||||
ESPNL_chr2_238095340_238138287 | 238096600 | GTGCAGCC others(24): Show |
G | upstream_gene_variant | MODIFIER | HG01257.hp2 | a0046 | a0046c0130 | a0046c0130t0002 | a0046c0130t0002g0318 | 1 | 408 | 0.0025 | -31 | c.-38 others(42): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 3739 | chr2 | TogoVar | ||||||
ETNPPL_chr4_108737053_108768053 | 108757811 | ATGTAACC others(24): Show |
A | intron_variant | MODIFIER | HG02015.hp2 HG02723.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0248others(1): Show | 4 | 378 | 0.0106 | -31 | c.336 others(48): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 3/12 | chr4 | TogoVar | ||||||
ETV6_chr12_11644674_11900377 | 11859118 | GGTTTTTT others(24): Show |
G | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 262 | 0.0038 | -31 | c.463 others(48): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 4/7 | chr12 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133670541 | TGTCAGGG others(24): Show |
T | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0053 | 1 | 102 | 0.0098 | -31 | c.151 others(52): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 10/17 | chr7 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92879656 | ATTCCTTA others(24): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02257.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153a0001c0001t0001g0154a0001c0001t0001g0155 | 3 | 288 | 0.0104 | -31 | c.102 others(50): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EXOG_chr3_38491340_38531303 | 38492778 | ACACACAC others(24): Show |
A | upstream_gene_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0123 | 1 | 412 | 0.0024 | -31 | c.-35 others(42): Show |
EXOG | ENSG00000157036.13 | transcript | ENST00000287675.10 | protein_coding | 3561 | chr3 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47185276 | CTTTTTTT others(24): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG03098.hp1 HG03486.hp2 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0104a0001c0001t0001g0155a0001c0012t0001g0024 | 3 | 238 | 0.0126 | -31 | c.153 others(50): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA3_chr1_27965344_28093610 | 28084571 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0306 | 1 | 392 | 0.0026 | -31 | c.-69 others(48): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64704478 | TATATTAT others(24): Show |
T | intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 HG02622.hp2 others(7): Show |
a0001a0002a0003others(6): Show | a0001c0012a0002c0008a0002c0021others(7): Show | a0001c0012t0002a0002c0008t0002a0002c0021t0001others(7): Show | a0001c0012t0002g0021a0002c0008t0002g0020a0002c0021t0001g0008others(7): Show | 10 | 24 | 0.4167 | -31 | c.344 others(52): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 22/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65506460 | CTTTTTTT others(24): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0012 | a0012c0005 | a0012c0005t0001 | a0012c0005t0001g0014 | 1 | 24 | 0.0417 | -31 | c.-33 others(52): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 2/42 | chr6 | TogoVar | ||||||
F10_chr13_113117799_113154529 | 113154175 | CGGGGGAG others(24): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(165): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(151): Show | 168 | 412 | 0.4078 | -31 | c.*46 others(42): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 4647 | chr13 | TogoVar | ||||||
F12_chr5_177397141_177414564 | 177399512 | TGCGGGGC others(24): Show |
T | downstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 454 | 0.0022 | -31 | c.*27 others(42): Show |
F12 | ENSG00000131187.11 | transcript | ENST00000253496.4 | protein_coding | 2628 | chr5 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6311715 | AATATATT others(24): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(228): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0006a0001c0021others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(47): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(227): Show | 231 | 292 | 0.7911 | -31 | c.131 others(48): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 2/14 | chr6 | TogoVar | ||||||
FAAP100_chr17_81534891_81557353 | 81542187 | AAAAAAAA others(24): Show |
A | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 436 | 0.0023 | -31 | c.242 others(48): Show |
FAAP100 | ENSG00000185504.17 | transcript | ENST00000327787.13 | protein_coding | 7/8 | chr17 | TogoVar | ||||||
FADS2_chr11_61823300_61872354 | 61824478 | GAGAGAGA others(24): Show |
G | upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0145 | 1 | 280 | 0.0036 | -31 | c.-39 others(42): Show |
FADS2 | ENSG00000134824.14 | transcript | ENST00000278840.9 | protein_coding | 3821 | chr11 | TogoVar | ||||||
FADS2_chr11_61823300_61872354 | 61824490 | GAAAGAAA others(24): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02257.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0143a0001c0001t0002g0130a0001c0001t0003g0128others(4): Show | 7 | 280 | 0.0250 | -31 | c.-39 others(42): Show |
FADS2 | ENSG00000134824.14 | transcript | ENST00000278840.9 | protein_coding | 3809 | chr11 | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50746262 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 190 | 0.0053 | -31 | c.368 others(48): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 4/18 | chr1 | TogoVar | ||||||
FAM107B_chr10_14513557_14779897 | 14629418 | AATATATA others(24): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(85): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0026a0001c0001t0001g0035a0001c0001t0001g0050others(85): Show | 88 | 272 | 0.3235 | -31 | c.469 others(50): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
FAM107B_chr10_14513557_14779897 | 14629427 | AATATATA others(24): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01346.hp1 others(20): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0037a0001c0001t0001g0083a0001c0001t0001g0097others(20): Show | 23 | 272 | 0.0846 | -31 | c.469 others(50): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
FAM151B_chr5_80483100_80547563 | 80494465 | TTTCTTTC others(24): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0297a0001c0001t0002g0298 | 2 | 356 | 0.0056 | -31 | c.25+ others(46): Show |
FAM151B | ENSG00000152380.10 | transcript | ENST00000282226.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FAM171A2_chr17_44348215_44368853 | 44368126 | ATATATAT others(24): Show |
A | upstream_gene_variant | MODIFIER | HG03130.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0015 | 2 | 416 | 0.0048 | -31 | c.-44 others(42): Show |
FAM171A2 | ENSG00000161682.15 | transcript | ENST00000293443.12 | protein_coding | 4274 | chr17 | TogoVar | ||||||
FAM171A2_chr17_44348215_44368853 | 44368128 | ATATATAT others(24): Show |
A | upstream_gene_variant | MODIFIER | HG00609.hp2 NA18992.hp1 NA19090.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0005a0002c0003t0001g0038 | 3 | 416 | 0.0072 | -31 | c.-44 others(42): Show |
FAM171A2 | ENSG00000161682.15 | transcript | ENST00000293443.12 | protein_coding | 4276 | chr17 | TogoVar | ||||||
FAM171A2_chr17_44348215_44368853 | 44368130 | ATATATAT others(24): Show |
A | upstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 416 | 0.0024 | -31 | c.-44 others(42): Show |
FAM171A2 | ENSG00000161682.15 | transcript | ENST00000293443.12 | protein_coding | 4278 | chr17 | TogoVar | ||||||
FAM174B_chr15_92612448_92660775 | 92631144 | CATATTAT others(24): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(81): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0049a0001c0001t0001g0058a0001c0001t0001g0153others(80): Show | 84 | 394 | 0.2132 | -31 | c.345 others(46): Show |
FAM174B | ENSG00000185442.13 | transcript | ENST00000327355.6 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
FAM178B_chr2_96870885_96991580 | 96905830 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | NA18966.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0216 | 1 | 250 | 0.0040 | -31 | c.156 others(50): Show |
FAM178B | ENSG00000168754.15 | transcript | ENST00000490605.3 | protein_coding | 12/16 | chr2 | TogoVar | ||||||
FAM178B_chr2_96870885_96991580 | 96987178 | CAAAAAAA others(24): Show |
C | upstream_gene_variant | MODIFIER | HG00597.hp2 NA18941.hp1 NA18951.hp1 others(5): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0017t0001 | a0001c0001t0001g0079a0001c0001t0001g0134a0001c0001t0001g0135others(5): Show | 8 | 250 | 0.0320 | -31 | c.-89 others(40): Show |
FAM178B | ENSG00000168754.15 | transcript | ENST00000490605.3 | protein_coding | 599 | chr2 | TogoVar | ||||||
FAM193A_chr4_2531647_2737573 | 2590475 | ACAAAAAA others(24): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0116 | 1 | 330 | 0.0030 | -31 | c.256 others(48): Show |
FAM193A | ENSG00000125386.16 | transcript | ENST00000637812.2 | protein_coding | 1/20 | chr4 | TogoVar | ||||||
FAM9B_chrX_9019232_9039127 | 9022236 | ATATATTA others(24): Show |
A | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0047a0001c0001t0001g0048 | 4 | 258 | 0.0155 | -31 | c.*31 others(42): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 1995 | chrX | TogoVar | ||||||
FANCD2OS_chr3_10098937_10113255 | 10105762 | AAAAAAAA others(24): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02818.hp1 HG02922.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0006a0002c0002t0002 | a0001c0003t0006g0063a0002c0002t0002g0049 | 3 | 346 | 0.0087 | -31 | c.-8- others(45): Show |
FANCD2OS | ENSG00000163705.13 | transcript | ENST00000450660.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
FANCD2OS_chr3_10098937_10113255 | 10105764 | AAAAAAAA others(24): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02895.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0004 | a0001c0001t0002g0051a0001c0003t0004g0060a0001c0003t0004g0061others(1): Show | 5 | 346 | 0.0145 | -31 | c.-8- others(45): Show |
FANCD2OS | ENSG00000163705.13 | transcript | ENST00000450660.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
FANCD2OS_chr3_10098937_10113255 | 10105766 | AAAAAATT others(24): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02622.hp1 others(4): Show |
a0001a0005 | a0001c0003a0005c0005 | a0001c0003t0004a0005c0005t0006 | a0001c0003t0004g0013a0005c0005t0006g0062 | 7 | 346 | 0.0202 | -31 | c.-8- others(45): Show |
FANCD2OS | ENSG00000163705.13 | transcript | ENST00000450660.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
FANCD2OS_chr3_10098937_10113255 | 10105770 | AATTATAT others(24): Show |
A | intron_variant | MODIFIER | HG02056.hp1 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066a0001c0001t0001g0073 | 2 | 346 | 0.0058 | -31 | c.-8- others(45): Show |
FANCD2OS | ENSG00000163705.13 | transcript | ENST00000450660.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
FANCD2_chr3_10021437_10106932 | 10105762 | AAAAAAAA others(24): Show |
A | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02818.hp2 HG02922.hp1 |
a0002a0009 | a0002c0002a0009c0010 | a0002c0002t0002a0009c0010t0003 | a0002c0002t0002g0207a0002c0002t0002g0208a0009c0010t0003g0158 | 3 | 242 | 0.0124 | -31 | c.*45 others(42): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 3831 | chr3 | TogoVar | ||||||
FANCD2_chr3_10021437_10106932 | 10105764 | AAAAAAAA others(24): Show |
A | downstream_gene_variant | MODIFIER | HG02615.hp2 HG02895.hp1 HG02897.hp2 others(2): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0002a0003c0004t0003 | a0002c0002t0002g0190a0002c0002t0002g0192a0003c0004t0003g0161others(2): Show | 5 | 242 | 0.0207 | -31 | c.*45 others(42): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 3833 | chr3 | TogoVar | ||||||
FANCD2_chr3_10021437_10106932 | 10105766 | AAAAAATT others(24): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02622.hp1 others(4): Show |
a0003a0009 | a0003c0004a0009c0010 | a0003c0004t0003a0009c0010t0003 | a0003c0004t0003g0160a0003c0004t0003g0162a0003c0004t0003g0163others(4): Show | 7 | 242 | 0.0289 | -31 | c.*45 others(42): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 3835 | chr3 | TogoVar | ||||||
FANCD2_chr3_10021437_10106932 | 10105770 | AATTATAT others(24): Show |
A | downstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 242 | 0.0041 | -31 | c.*45 others(42): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 3839 | chr3 | TogoVar | ||||||
FANCL_chr2_58154247_58246325 | 58217142 | GATTTATA others(24): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG01099.hp1 HG01106.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0020others(16): Show | 21 | 390 | 0.0539 | -31 | c.374 others(48): Show |
FANCL | ENSG00000115392.13 | transcript | ENST00000233741.9 | protein_coding | 5/13 | chr2 | TogoVar | ||||||
FBN1_chr15_48403313_48650709 | 48568018 | AAAGAAAG others(24): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG03453.hp2 NA18963.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0008a0001c0004t0004 | a0001c0002t0008g0134a0001c0002t0008g0135a0001c0004t0004g0138 | 3 | 288 | 0.0104 | -31 | c.538 others(50): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | TogoVar |