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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EYA2_chr20_46889843_47193844 | 46908870 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0085 | 1 | 238 | 0.0042 | 22 | c.-11 others(41): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46987916 | G | GACTCTCT others(15): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0208 | 1 | 238 | 0.0042 | 22 | c.-10 others(39): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | chr20 | TogoVar | |||||||
EYA2_chr20_46889843_47193844 | 46987916 | G | GACTCTCT others(15): Show |
intron_variant | MODIFIER | HG02976.hp1 HG04184.hp2 HG04199.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0094 a0001c0001t0002g0199 a0001c0001t0003g0154 others(1): Show |
4 | 238 | 0.0168 | 22 | c.-10 others(39): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | chr20 | TogoVar | |||||||
EYA2_chr20_46889843_47193844 | 46987964 | C | CTCTCTCT others(15): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0153 | 1 | 238 | 0.0042 | 22 | c.-10 others(39): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46987964 | C | CTCTCTCT others(15): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0138 a0001c0001t0003g0177 |
2 | 238 | 0.0084 | 22 | c.-10 others(39): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46987964 | C | CTCTCTCT others(15): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02015.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0003 | a0001c0001t0001g0047 a0001c0002t0001g0133 a0001c0003t0003g0085 |
3 | 238 | 0.0126 | 22 | c.-10 others(39): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47021859 | T | TGGATTTA others(15): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0008 | a0008c0014 | a0008c0014t0001 | a0008c0014t0001g0159 | 1 | 238 | 0.0042 | 22 | c.415 others(39): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47063392 | C | CGTGTGTG others(15): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 238 | 0.0042 | 22 | c.416 others(39): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28062657 | G | GGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01515.hp2 NA18965.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 a0001c0001t0002g0225 a0001c0001t0002g0262 |
3 | 392 | 0.0077 | 22 | c.-68 others(39): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28073103 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03098.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0384 a0001c0001t0005g0286 a0001c0001t0005g0290 |
3 | 392 | 0.0077 | 22 | c.-68 others(41): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252 | 1 | 392 | 0.0026 | 22 | c.-68 others(41): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0221 | 1 | 392 | 0.0026 | 22 | c.-68 others(41): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02056.hp1 NA19077.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 a0001c0001t0002g0220 a0001c0001t0002g0237 |
3 | 392 | 0.0077 | 22 | c.-68 others(41): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0246 a0001c0001t0002g0256 a0001c0001t0002g0257 |
3 | 392 | 0.0077 | 22 | c.-68 others(41): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA4_chr6_133236357_133537128 | 133273097 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG03927.hp1 HG03927.hp2 NA18992.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0037a0002c0002t0001 | a0001c0001t0037g0236 a0002c0002t0001g0192 a0002c0002t0001g0198 |
3 | 264 | 0.0114 | 22 | c.-65 others(39): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133273097 | G | GTGTATAT others(15): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02257.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0007a0002c0002t0014a0002c0002t0016 | a0002c0002t0007g0131 a0002c0002t0007g0132 a0002c0002t0014g0128 others(2): Show |
5 | 264 | 0.0189 | 22 | c.-65 others(39): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133273098 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG03491.hp1 NA18947.hp1 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0244 a0001c0001t0001g0262 a0001c0001t0002g0202 |
3 | 264 | 0.0114 | 22 | c.-65 others(39): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133277413 | A | ATAAATCA others(15): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 264 | 0.0038 | 22 | c.33+ others(37): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133294023 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG01934.hp2 HG01975.hp1 HG03453.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0004 | a0001c0001t0002g0199 a0002c0002t0001g0030 a0002c0002t0004g0053 |
3 | 264 | 0.0114 | 22 | c.33+ others(39): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133294062 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0109 | 1 | 264 | 0.0038 | 22 | c.33+ others(39): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133342605 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0263 | 1 | 264 | 0.0038 | 22 | c.34- others(39): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 2/19 | chr6 | TogoVar | |||||||
EYA4_chr6_133236357_133537128 | 133439049 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01081.hp2 HG03239.hp2 NA18989.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0216 a0001c0001t0003g0108 a0002c0002t0001g0040 |
3 | 264 | 0.0114 | 22 | c.84- others(37): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133520764 | C | CATGGTAC others(15): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0138 | 1 | 264 | 0.0038 | 22 | c.161 others(41): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 17/19 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 63727737 | A | AAAATATA others(15): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0013 | a0013c0005 | a0013c0005t0001 | a0013c0005t0001g0014 | 1 | 24 | 0.0417 | 22 | c.807 others(41): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 41/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 63753144 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0016 | a0016c0022 | a0016c0022t0001 | a0016c0022t0001g0011 | 1 | 24 | 0.0417 | 22 | c.807 others(41): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 41/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 64085340 | G | GCGCACAC others(15): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0006 | a0006c0017 | a0006c0017t0001 | a0006c0017t0001g0002 | 1 | 24 | 0.0417 | 22 | c.642 others(41): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 31/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 64085340 | G | GCGCGCAC others(15): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0004 | 1 | 24 | 0.0417 | 22 | c.642 others(41): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 31/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 64297977 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0010 | a0010c0015 | a0010c0015t0002 | a0010c0015t0002g0023 | 1 | 24 | 0.0417 | 22 | c.619 others(41): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 30/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 64766649 | A | AAAAAATA others(15): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0020 | 1 | 24 | 0.0417 | 22 | c.344 others(43): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 22/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 64792857 | C | CGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0004 | a0004c0024 | a0004c0024t0001 | a0004c0024t0001g0001 | 1 | 24 | 0.0417 | 22 | c.344 others(43): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 22/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 64989394 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02809.hp1 HG02886.hp2 others(1): Show |
a0002a0003a0008others(1): Show | a0002c0009a0003c0008a0008c0001others(1): Show | a0002c0009t0001a0003c0008t0002a0008c0001t0001others(1): Show | a0002c0009t0001g0012 a0003c0008t0002g0020 a0008c0001t0001g0013 others(1): Show |
4 | 24 | 0.1667 | 22 | c.225 others(41): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 14/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 65263703 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0021 | 1 | 24 | 0.0417 | 22 | c.202 others(43): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 65271128 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02965.hp1 |
a0011a0013 | a0011c0010a0013c0005 | a0011c0010t0001a0013c0005t0001 | a0011c0010t0001g0015 a0013c0005t0001g0014 |
2 | 24 | 0.0833 | 22 | c.202 others(43): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 65278328 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03195.hp2 |
a0003a0019 | a0003c0021a0019c0023 | a0003c0021t0001a0019c0023t0001 | a0003c0021t0001g0008 a0019c0023t0001g0010 |
2 | 24 | 0.0833 | 22 | c.202 others(43): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 65519708 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0021 | 1 | 24 | 0.0417 | 22 | c.-33 others(43): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 2/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 65556387 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0004 | 1 | 24 | 0.0417 | 22 | c.-33 others(43): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 2/42 | chr6 | TogoVar | |||||||
EZH2_chr7_148802383_148889291 | 148839061 | G | GAAGGAGA others(15): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 380 | 0.0026 | 22 | c.247 others(39): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 3/19 | chr7 | TogoVar | |||||||
EZHIP_chrX_51401948_51413843 | 51409476 | G | GGTGTGTG others(15): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 HG02723.hp2 HG02818.hp1 others(8): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(1): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0008t0001g0000 others(1): Show |
11 | 295 | 0.0373 | 22 | c.*94 others(31): Show |
EZHIP | ENSG00000187690.4 | transcript | ENST00000342995.4 | protein_coding | 634 | chrX | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113148343 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0076 | 1 | 412 | 0.0024 | 22 | c.866 others(37): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
F10_chr13_113117799_113154529 | 113148345 | A | AAAATATA others(15): Show |
intron_variant | MODIFIER | NA18944.hp2 NA19056.hp2 NA19079.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 a0001c0002t0001g0223 |
3 | 412 | 0.0073 | 22 | c.866 others(37): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
F10_chr13_113117799_113154529 | 113148345 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0213 | 1 | 412 | 0.0024 | 22 | c.866 others(37): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6210324 | G | GATATATA others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(33): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0009a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0040 others(33): Show |
36 | 292 | 0.1233 | 22 | c.111 others(43): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 8/14 | chr6 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6238715 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0068 | 1 | 292 | 0.0034 | 22 | c.798 others(39): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 6/14 | chr6 | TogoVar | |||||||
F5_chr1_169506951_169591481 | 169522096 | G | GTTAATTG others(15): Show |
intron_variant | MODIFIER | HG06807.hp1 NA18522.hp1 |
a0041a0042 | a0041c0074a0042c0062 | a0041c0074t0005a0042c0062t0005 | a0041c0074t0005g0292 a0042c0062t0005g0297 |
2 | 306 | 0.0065 | 22 | c.604 others(41): Show |
F5 | ENSG00000198734.12 | transcript | ENST00000367797.9 | protein_coding | 21/24 | chr1 | TogoVar | |||||||
F5_chr1_169506951_169591481 | 169556425 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02572.hp2 HG02895.hp2 |
a0010a0015a0018 | a0010c0012a0015c0033a0018c0034 | a0010c0012t0002a0015c0033t0006a0018c0034t0002 | a0010c0012t0002g0042 a0015c0033t0006g0008 a0018c0034t0002g0006 |
3 | 306 | 0.0098 | 22 | c.952 others(37): Show |
F5 | ENSG00000198734.12 | transcript | ENST00000367797.9 | protein_coding | 6/24 | chr1 | TogoVar | |||||||
F5_chr1_169506951_169591481 | 169577560 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG01496.hp2 HG04115.hp1 NA18747.hp1 |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0002a0003c0005t0003 | a0001c0002t0002g0157 a0001c0002t0002g0158 a0003c0005t0003g0156 |
3 | 306 | 0.0098 | 22 | c.250 others(39): Show |
F5 | ENSG00000198734.12 | transcript | ENST00000367797.9 | protein_coding | 2/24 | chr1 | TogoVar | |||||||
F7_chr13_113100791_113125685 | 113105036 | A | AATATATA others(15): Show |
upstream_gene_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0084 | 1 | 400 | 0.0025 | 22 | c.-80 others(31): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 754 | chr13 | TogoVar | |||||||
F7_chr13_113100791_113125685 | 113105038 | A | AATATATA others(15): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0030 | 1 | 400 | 0.0025 | 22 | c.-80 others(31): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 752 | chr13 | TogoVar | |||||||
F8A2_chrX_155377095_155388801 | 155384120 | A | ATTTTTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00741.hp1 HG02132.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 5 | 267 | 0.0187 | 22 | c.*89 others(31): Show |
F8A2 | ENSG00000288709.1 | transcript | ENST00000369505.5 | protein_coding | 320 | chrX | TogoVar | |||||||
F8A3_chrX_155451914_155463620 | 155455276 | A | AATCAGTG others(15): Show |
downstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0000 | 1 | 270 | 0.0037 | 22 | c.*22 others(33): Show |
F8A3 | ENSG00000277150.2 | transcript | ENST00000622749.2 | protein_coding | 1637 | chrX | TogoVar |