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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXOC6B_chr2_72170984_72831033 | 72307161 | G | GTTTTTGT others(12): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01123.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0026a0001c0001t0002g0030a0001c0001t0002g0031others(16): Show | 19 | 104 | 0.1827 | 19 | c.219 others(40): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 20/21 | chr2 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72397625 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02451.hp1 HG02572.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007 | a0001c0001t0002g0032a0001c0001t0002g0061a0001c0001t0003g0029others(4): Show | 7 | 104 | 0.0673 | 19 | c.198 others(40): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 18/21 | chr2 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72397625 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0004 | a0002c0004t0008 | a0002c0004t0008g0002 | 1 | 104 | 0.0096 | 19 | c.198 others(40): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 18/21 | chr2 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72508184 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0080 | 1 | 104 | 0.0096 | 19 | c.116 others(38): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 11/21 | chr2 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72767808 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0003 | a0001c0003t0023 | a0001c0003t0023g0092 | 1 | 104 | 0.0096 | 19 | c.114 others(38): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 1/21 | chr2 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92858021 | T | TCCCCCCC others(12): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 288 | 0.0035 | 19 | c.101 others(36): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 1/21 | chr10 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92858022 | T | TCCCCCCC others(12): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0158a0001c0001t0004g0159 | 2 | 288 | 0.0069 | 19 | c.101 others(36): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EXOC6_chr10_92843520_93064490 | 93050759 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02135.hp1 NA18950.hp1 NA18971.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0030others(4): Show | 7 | 288 | 0.0243 | 19 | c.217 others(38): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EXOSC10_chr1_11061618_11104869 | 11078264 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG01175.hp1 others(15): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0226a0001c0003t0001g0232a0001c0003t0001g0234others(15): Show | 18 | 284 | 0.0634 | 19 | c.175 others(36): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 14/24 | chr1 | TogoVar | ||||||
EXOSC10_chr1_11061618_11104869 | 11083562 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03225.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0215a0001c0007t0001g0216 | 2 | 284 | 0.0070 | 19 | c.109 others(36): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 9/24 | chr1 | TogoVar | ||||||
EXOSC1_chr10_97430909_97451006 | 97449861 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG02717.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0124 | 3 | 430 | 0.0070 | 19 | c.-38 others(30): Show |
EXOSC1 | ENSG00000171311.13 | transcript | ENST00000370902.8 | protein_coding | 3856 | chr10 | TogoVar | ||||||
EXPH5_chr11_108500435_108598768 | 108532366 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0304 | 1 | 314 | 0.0032 | 19 | c.444 others(36): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3/5 | chr11 | TogoVar | ||||||
EXPH5_chr11_108500435_108598768 | 108532366 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03225.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0305a0003c0003t0002g0308 | 2 | 314 | 0.0064 | 19 | c.444 others(36): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3/5 | chr11 | TogoVar | ||||||
EXPH5_chr11_108500435_108598768 | 108532366 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0032 | a0032c0029 | a0032c0029t0004 | a0032c0029t0004g0113 | 1 | 314 | 0.0032 | 19 | c.444 others(36): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3/5 | chr11 | TogoVar | ||||||
EXPH5_chr11_108500435_108598768 | 108532367 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01071.hp2 HG01934.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002a0003c0003t0052 | a0001c0001t0002g0101a0001c0001t0002g0102a0001c0001t0002g0190others(2): Show | 5 | 314 | 0.0159 | 19 | c.444 others(36): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3/5 | chr11 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117870495 | G | GGGGTCTG others(12): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0064 | a0001c0001t0006g0126a0001c0001t0064g0177 | 2 | 190 | 0.0105 | 19 | c.963 others(38): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117874575 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0007 | 1 | 190 | 0.0053 | 19 | c.963 others(38): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXTL1_chr1_26016775_26041464 | 26027692 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01069.hp2 NA18955.hp1 NA19091.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0030a0002c0002t0001g0060 | 3 | 372 | 0.0081 | 19 | c.780 others(36): Show |
EXTL1 | ENSG00000158008.10 | transcript | ENST00000374280.4 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EXTL1_chr1_26016775_26041464 | 26027693 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00639.hp2 others(21): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0003a0002c0002t0024a0002c0003t0001others(2): Show | a0002c0002t0003g0007a0002c0002t0003g0016a0002c0002t0003g0072others(4): Show | 24 | 372 | 0.0645 | 19 | c.780 others(36): Show |
EXTL1 | ENSG00000158008.10 | transcript | ENST00000374280.4 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EXTL1_chr1_26016775_26041464 | 26027693 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0058 | 1 | 372 | 0.0027 | 19 | c.780 others(36): Show |
EXTL1 | ENSG00000158008.10 | transcript | ENST00000374280.4 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EXTL1_chr1_26016775_26041464 | 26027694 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0002 | a0002c0002 | a0002c0002t0027 | a0002c0002t0027g0075 | 1 | 372 | 0.0027 | 19 | c.780 others(36): Show |
EXTL1 | ENSG00000158008.10 | transcript | ENST00000374280.4 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EYA1_chr8_71192433_71367069 | 71274932 | G | GAGAGCAC others(12): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 232 | 0.0043 | 19 | c.827 others(36): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 9/17 | chr8 | TogoVar | ||||||
EYA1_chr8_71192433_71367069 | 71346431 | A | AATATATA others(12): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02622.hp2 HG03098.hp2 |
a0002 | a0002c0006a0002c0008 | a0002c0006t0003a0002c0008t0002 | a0002c0006t0003g0024a0002c0006t0003g0025a0002c0008t0002g0023 | 3 | 232 | 0.0129 | 19 | c.124 others(36): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 3/17 | chr8 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47063430 | T | TGTGTGTG others(12): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0063 | 1 | 238 | 0.0042 | 19 | c.416 others(36): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 5/15 | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47178821 | G | GTGGGTGG others(12): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00735.hp1 others(80): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0008a0001c0001t0001g0034a0001c0001t0001g0037others(80): Show | 83 | 238 | 0.3487 | 19 | c.119 others(36): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47178821 | G | GTGGGTGG others(12): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01243.hp2 HG01358.hp1 others(41): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(7): Show | a0001c0001t0001g0005a0001c0001t0001g0020a0001c0001t0001g0091others(41): Show | 44 | 238 | 0.1849 | 19 | c.119 others(36): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47178843 | G | GGTGGATG others(12): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02109.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0013a0003c0007 | a0001c0001t0001a0001c0013t0001a0003c0007t0001 | a0001c0001t0001g0030a0001c0001t0001g0035a0001c0001t0001g0046others(6): Show | 9 | 238 | 0.0378 | 19 | c.119 others(36): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA3_chr1_27965344_28093610 | 28038439 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203 | 1 | 392 | 0.0026 | 19 | c.224 others(34): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 5/17 | chr1 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 | 1 | 392 | 0.0026 | 19 | c.-68 others(38): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225 | 1 | 392 | 0.0026 | 19 | c.-68 others(38): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28073128 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01928.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006 | a0001c0001t0004g0358a0001c0001t0005g0285a0001c0001t0006g0371 | 3 | 392 | 0.0077 | 19 | c.-68 others(38): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28084595 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0104 | 1 | 392 | 0.0026 | 19 | c.-69 others(36): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28084595 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 | 1 | 392 | 0.0026 | 19 | c.-69 others(36): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28084595 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 1 | 392 | 0.0026 | 19 | c.-69 others(36): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28084596 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG01934.hp2 HG01952.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163a0001c0001t0001g0164 | 2 | 392 | 0.0051 | 19 | c.-69 others(36): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133428911 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 264 | 0.0038 | 19 | c.84- others(36): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYA4_chr6_133236357_133537128 | 133439049 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01346.hp1 HG04228.hp2 NA18954.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0019a0002c0002t0001 | a0001c0001t0001g0011a0001c0001t0019g0261a0002c0002t0001g0067 | 3 | 264 | 0.0114 | 19 | c.84- others(34): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYS_chr6_63714980_65712226 | 63727737 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03098.hp2 HG03195.hp1 |
a0004a0007a0016 | a0004c0017a0007c0018a0016c0014 | a0004c0017t0001a0007c0018t0001a0016c0014t0001 | a0004c0017t0001g0002a0007c0018t0001g0007a0016c0014t0001g0005 | 3 | 24 | 0.1250 | 19 | c.807 others(38): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 41/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64506908 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0003 | a0003c0019 | a0003c0019t0001 | a0003c0019t0001g0006 | 1 | 24 | 0.0417 | 19 | c.564 others(40): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 26/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64766649 | A | AAATATAT others(12): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03098.hp1 HG03195.hp1 |
a0006a0007a0010 | a0006c0022a0007c0018a0010c0003 | a0006c0022t0001a0007c0018t0001a0010c0003t0001 | a0006c0022t0001g0011a0007c0018t0001g0007a0010c0003t0001g0016 | 3 | 24 | 0.1250 | 19 | c.344 others(40): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 22/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64766649 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0013 | a0013c0020 | a0013c0020t0002 | a0013c0020t0002g0022 | 1 | 24 | 0.0417 | 19 | c.344 others(40): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 22/42 | chr6 | TogoVar | ||||||
EZHIP_chrX_51401948_51413843 | 51409476 | G | GTGTGTGT others(12): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 295 | 0.0034 | 19 | c.*94 others(28): Show |
EZHIP | ENSG00000187690.4 | transcript | ENST00000342995.4 | protein_coding | 634 | chrX | TogoVar | ||||||
F10_chr13_113117799_113154529 | 113148343 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0268 | 1 | 412 | 0.0024 | 19 | c.866 others(34): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
F10_chr13_113117799_113154529 | 113148345 | A | AAATATAT others(12): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0074 | 1 | 412 | 0.0024 | 19 | c.866 others(34): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
F10_chr13_113117799_113154529 | 113148345 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02273.hp2 NA18612.hp2 |
a0001a0006 | a0001c0002a0006c0010 | a0001c0002t0001a0006c0010t0001 | a0001c0002t0001g0011a0001c0002t0001g0124a0006c0010t0001g0011 | 3 | 412 | 0.0073 | 19 | c.866 others(34): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
F5_chr1_169506951_169591481 | 169556425 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02723.hp1 HG02922.hp1 others(2): Show |
a0002a0004a0010others(2): Show | a0002c0070a0004c0059a0010c0012others(2): Show | a0002c0070t0001a0004c0059t0001a0010c0012t0002others(2): Show | a0002c0070t0001g0277a0004c0059t0001g0300a0010c0012t0002g0061others(2): Show | 5 | 306 | 0.0163 | 19 | c.952 others(34): Show |
F5 | ENSG00000198734.12 | transcript | ENST00000367797.9 | protein_coding | 6/24 | chr1 | TogoVar | ||||||
F5_chr1_169506951_169591481 | 169577560 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0033 | 1 | 306 | 0.0033 | 19 | c.250 others(36): Show |
F5 | ENSG00000198734.12 | transcript | ENST00000367797.9 | protein_coding | 2/24 | chr1 | TogoVar | ||||||
F7_chr13_113100791_113125685 | 113105040 | A | AAAAAAAT others(12): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0037 | 2 | 400 | 0.0050 | 19 | c.-80 others(28): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 750 | chr13 | TogoVar | ||||||
F7_chr13_113100791_113125685 | 113108041 | T | TGTGGGTT others(12): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 400 | 0.0025 | 19 | c.64+ others(34): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
F7_chr13_113100791_113125685 | 113108057 | G | GCGTGGGT others(12): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 400 | 0.0025 | 19 | c.64+ others(34): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |