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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXOC6_chr10_92843520_93064490 | 93050759 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01256.hp1 HG01256.hp2 others(18): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(1): Show | a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0074others(18): Show | 21 | 288 | 0.0729 | 13 | c.217 others(32): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EXOC7_chr17_76076016_76108787 | 76077966 | C | CGGGGGGG others(6): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0024 | 1 | 366 | 0.0027 | 13 | c.*56 others(24): Show |
EXOC7 | ENSG00000182473.22 | transcript | ENST00000589210.6 | protein_coding | 3049 | chr17 | TogoVar | ||||||
EXOC8_chr1_231327753_231342852 | 231340657 | G | GCCCTTAC others(6): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0019 | a0001c0001t0008g0000a0001c0001t0019g0000 | 2 | 388 | 0.0052 | 13 | c.-29 others(24): Show |
EXOC8 | ENSG00000116903.7 | transcript | ENST00000366645.1 | protein_coding | 2806 | chr1 | TogoVar | ||||||
EXOG_chr3_38491340_38531303 | 38513556 | A | ATGGAATA others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(291): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(158): Show | 294 | 412 | 0.7136 | 13 | c.645 others(30): Show |
EXOG | ENSG00000157036.13 | transcript | ENST00000287675.10 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EXOSC10_chr1_11061618_11104869 | 11078264 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0186 | 1 | 284 | 0.0035 | 13 | c.175 others(30): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 14/24 | chr1 | TogoVar | ||||||
EXOSC10_chr1_11061618_11104869 | 11083562 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01099.hp1 HG01109.hp2 others(17): Show |
a0001 | a0001c0003a0001c0022 | a0001c0003t0001a0001c0022t0001 | a0001c0003t0001g0225a0001c0003t0001g0227a0001c0003t0001g0228others(17): Show | 20 | 284 | 0.0704 | 13 | c.109 others(30): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 9/24 | chr1 | TogoVar | ||||||
EXOSC2_chr9_130688780_130709892 | 130691020 | C | CTTTCTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG03195.hp2 NA18953.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0098 | 3 | 426 | 0.0070 | 13 | c.-27 others(24): Show |
EXOSC2 | ENSG00000130713.17 | transcript | ENST00000372358.10 | protein_coding | 2759 | chr9 | TogoVar | ||||||
EXOSC2_chr9_130688780_130709892 | 130691252 | G | GACTGACA others(6): Show |
upstream_gene_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 426 | 0.0024 | 13 | c.-25 others(24): Show |
EXOSC2 | ENSG00000130713.17 | transcript | ENST00000372358.10 | protein_coding | 2527 | chr9 | TogoVar | ||||||
EXPH5_chr11_108500435_108598768 | 108532366 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0016 | a0016c0014 | a0016c0014t0004 | a0016c0014t0004g0098 | 1 | 314 | 0.0032 | 13 | c.444 others(30): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3/5 | chr11 | TogoVar | ||||||
EXPH5_chr11_108500435_108598768 | 108532367 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0033a0003c0003 | a0001c0001t0002a0001c0033t0011a0003c0003t0001others(1): Show | a0001c0001t0002g0011a0001c0001t0002g0042a0001c0001t0002g0051others(11): Show | 14 | 314 | 0.0446 | 13 | c.444 others(30): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3/5 | chr11 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117809242 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG01943.hp2 HG01952.hp1 NA18952.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0053a0001c0001t0002g0105a0001c0001t0003g0040others(1): Show | 4 | 190 | 0.0211 | 13 | c.172 others(32): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 8/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117827784 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02809.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0032a0001c0007t0030 | a0001c0001t0032g0011a0001c0007t0030g0013 | 2 | 190 | 0.0105 | 13 | c.128 others(32): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 4/10 | chr8 | TogoVar | ||||||
EXT2_chr11_44090678_44256962 | 44119124 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0288 | 1 | 334 | 0.0030 | 13 | c.743 others(30): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 4/13 | chr11 | TogoVar | ||||||
EXTL3_chr8_28696501_28760599 | 28756803 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 380 | 0.0026 | 13 | c.*59 others(24): Show |
EXTL3 | ENSG00000012232.10 | transcript | ENST00000220562.9 | protein_coding | 1205 | chr8 | TogoVar | ||||||
EYA1_chr8_71192433_71367069 | 71207536 | G | GTCACGTA others(6): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0230 | 1 | 232 | 0.0043 | 13 | c.169 others(32): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 17/17 | chr8 | TogoVar | ||||||
EYA1_chr8_71192433_71367069 | 71326435 | A | AATGTTGT others(6): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0172 | 1 | 232 | 0.0043 | 13 | c.203 others(30): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 4/17 | chr8 | TogoVar | ||||||
EYA1_chr8_71192433_71367069 | 71346431 | A | AATATATA others(6): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0013 | a0002c0013t0002 | a0002c0013t0002g0067 | 1 | 232 | 0.0043 | 13 | c.124 others(30): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 3/17 | chr8 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46908870 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03041.hp1 NA19002.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0002c0005t0001 | a0001c0001t0002g0135a0002c0005t0001g0033 | 2 | 238 | 0.0084 | 13 | c.-11 others(32): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47112862 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0178 | 1 | 238 | 0.0042 | 13 | c.888 others(32): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47130261 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02970.hp2 |
a0001a0005 | a0001c0003a0005c0006 | a0001c0003t0001a0005c0006t0003 | a0001c0003t0001g0166a0005c0006t0003g0165 | 2 | 238 | 0.0084 | 13 | c.889 others(32): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47135818 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0068 | 1 | 238 | 0.0042 | 13 | c.889 others(30): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47182628 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02622.hp2 HG02809.hp2 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0002a0005c0006t0002 | a0001c0001t0002g0038a0001c0001t0002g0106a0005c0006t0002g0167 | 3 | 238 | 0.0126 | 13 | c.143 others(30): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47182628 | T | TCAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01361.hp1 HG01884.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0104a0001c0001t0001g0155a0001c0001t0001g0163others(29): Show | 32 | 238 | 0.1345 | 13 | c.143 others(30): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 14/15 | chr20 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28038439 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0309 | 1 | 392 | 0.0026 | 13 | c.224 others(28): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 5/17 | chr1 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0065 | 1 | 392 | 0.0026 | 13 | c.-68 others(32): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28073128 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | NA18951.hp2 NA18966.hp2 NA18985.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012 | a0001c0001t0004g0354a0001c0001t0004g0355a0001c0001t0012g0356others(1): Show | 4 | 392 | 0.0102 | 13 | c.-68 others(32): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28084595 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02148.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0105a0001c0001t0003g0054 | 2 | 392 | 0.0051 | 13 | c.-69 others(30): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28084595 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037 | 1 | 392 | 0.0026 | 13 | c.-69 others(30): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28084596 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG01928.hp1 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139a0001c0001t0001g0165 | 2 | 392 | 0.0051 | 13 | c.-69 others(30): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133243119 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0082 | 1 | 264 | 0.0038 | 13 | c.-66 others(30): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 1/19 | chr6 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133383517 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0229 | 1 | 264 | 0.0038 | 13 | c.83+ others(28): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYA4_chr6_133236357_133537128 | 133391222 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02572.hp1 HG02717.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0020a0001c0001t0042others(1): Show | a0001c0001t0001g0047a0001c0001t0020g0093a0001c0001t0042g0095others(2): Show | 5 | 264 | 0.0189 | 13 | c.83+ others(28): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYA4_chr6_133236357_133537128 | 133391227 | T | TGTTTTTG others(6): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(112): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0019a0001c0001t0001g0032a0001c0001t0001g0043others(112): Show | 115 | 264 | 0.4356 | 13 | c.83+ others(28): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 3/19 | chr6 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133428911 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18947.hp1 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191a0001c0001t0001g0262 | 2 | 264 | 0.0076 | 13 | c.84- others(30): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYA4_chr6_133236357_133537128 | 133491951 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0012 | a0001c0001t0011g0083a0001c0001t0011g0086a0001c0001t0012g0120others(2): Show | 5 | 264 | 0.0189 | 13 | c.119 others(32): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYS_chr6_63714980_65712226 | 63727737 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0019 | a0019c0023 | a0019c0023t0001 | a0019c0023t0001g0010 | 1 | 24 | 0.0417 | 13 | c.807 others(32): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 41/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 63863670 | T | TTTCTTTT others(6): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0013 | a0013c0020 | a0013c0020t0002 | a0013c0020t0002g0022 | 1 | 24 | 0.0417 | 13 | c.722 others(30): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 36/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64296599 | T | TACATATA others(6): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0020 | 1 | 24 | 0.0417 | 13 | c.619 others(34): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 30/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64311979 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03195.hp2 |
a0019a0020 | a0019c0023a0020c0015 | a0019c0023t0001a0020c0015t0002 | a0019c0023t0001g0010a0020c0015t0002g0023 | 2 | 24 | 0.0833 | 13 | c.607 others(32): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 29/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64506908 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02970.hp1 |
a0001a0010 | a0001c0009a0010c0003 | a0001c0009t0001a0010c0003t0001 | a0001c0009t0001g0012a0010c0003t0001g0016 | 2 | 24 | 0.0833 | 13 | c.564 others(34): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 26/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64703429 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03209.hp2 |
a0008a0014 | a0008c0007a0014c0004 | a0008c0007t0001a0014c0004t0002 | a0008c0007t0001g0009a0014c0004t0002g0024 | 2 | 24 | 0.0833 | 13 | c.344 others(34): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 22/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64766649 | A | AAATATAT others(6): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0014 | a0014c0004 | a0014c0004t0002 | a0014c0004t0002g0024 | 1 | 24 | 0.0417 | 13 | c.344 others(34): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 22/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65120460 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0020 | a0020c0015 | a0020c0015t0002 | a0020c0015t0002g0023 | 1 | 24 | 0.0417 | 13 | c.202 others(34): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6313280 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18979.hp2 NA19077.hp2 |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0013a0005c0005t0002 | a0002c0002t0013g0200a0005c0005t0002g0201 | 2 | 292 | 0.0069 | 13 | c.130 others(30): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 2/14 | chr6 | TogoVar | ||||||
F2R_chr5_76711126_76740770 | 76715788 | A | ACGGCCGC others(6): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00642.hp1 others(96): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0008others(44): Show | 99 | 422 | 0.2346 | 13 | c.-52 others(22): Show |
F2R | ENSG00000181104.7 | transcript | ENST00000319211.5 | protein_coding | 337 | chr5 | TogoVar | ||||||
F5_chr1_169506951_169591481 | 169556425 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02280.hp1 HG02647.hp2 others(7): Show |
a0001a0002a0003others(5): Show | a0001c0004a0002c0003a0003c0026others(5): Show | a0001c0004t0002a0001c0004t0010a0002c0003t0001others(6): Show | a0001c0004t0002g0230a0001c0004t0010g0247a0002c0003t0001g0262others(7): Show | 10 | 306 | 0.0327 | 13 | c.952 others(28): Show |
F5 | ENSG00000198734.12 | transcript | ENST00000367797.9 | protein_coding | 6/24 | chr1 | TogoVar | ||||||
F5_chr1_169506951_169591481 | 169577560 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0214 | 1 | 306 | 0.0033 | 13 | c.250 others(30): Show |
F5 | ENSG00000198734.12 | transcript | ENST00000367797.9 | protein_coding | 2/24 | chr1 | TogoVar | ||||||
F7_chr13_113100791_113125685 | 113105040 | A | AAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01884.hp2 others(18): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0014others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0015a0001c0001t0001g0033others(10): Show | 21 | 400 | 0.0525 | 13 | c.-80 others(22): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 750 | chr13 | TogoVar | ||||||
F7_chr13_113100791_113125685 | 113105040 | A | AAAAAAAT others(6): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(101): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007others(58): Show | 104 | 400 | 0.2600 | 13 | c.-80 others(22): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 750 | chr13 | TogoVar | ||||||
F7_chr13_113100791_113125685 | 113105040 | A | AAAAATAT others(6): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00733.hp2 others(57): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0011others(42): Show | 60 | 400 | 0.1500 | 13 | c.-80 others(22): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 750 | chr13 | TogoVar |