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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EFHB_chr3_19874472_19939217 | 19908562 | A | AAGAGAGA others(7): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0014 | a0014c0016 | a0014c0016t0002 | a0014c0016t0002g0312 | 1 | 344 | 0.0029 | 14 | c.128 others(33): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 5/12 | chr3 | TogoVar | ||||||
EFHB_chr3_19874472_19939217 | 19908564 | G | GAGAGAAA others(7): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02004.hp1 HG02976.hp2 others(5): Show |
a0002a0008a0016 | a0002c0003a0002c0019a0008c0011others(1): Show | a0002c0003t0001a0002c0019t0001a0008c0011t0001others(1): Show | a0002c0003t0001g0043a0002c0003t0001g0052a0002c0003t0001g0056others(5): Show | 8 | 344 | 0.0233 | 14 | c.128 others(33): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 5/12 | chr3 | TogoVar | ||||||
EFHB_chr3_19874472_19939217 | 19908598 | G | GAGAGAAA others(7): Show |
intron_variant | MODIFIER | NA19083.hp1 NA20300.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0183a0003c0004t0001g0185 | 2 | 344 | 0.0058 | 14 | c.128 others(33): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 5/12 | chr3 | TogoVar | ||||||
EFHB_chr3_19874472_19939217 | 19926662 | C | CTTTTTTA others(7): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0063 | 1 | 344 | 0.0029 | 14 | c.790 others(31): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 1/12 | chr3 | TogoVar | ||||||
EFHC1_chr6_52415342_52502198 | 52481504 | A | ATCTCTCT others(7): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0002 | a0002c0002t0063 | a0002c0002t0063g0141 | 1 | 396 | 0.0025 | 14 | c.164 others(33): Show |
EFHC1 | ENSG00000096093.16 | transcript | ENST00000371068.11 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EFHC1_chr6_52415342_52502198 | 52493365 | C | CATATATA others(7): Show |
3_prime_UTR_variant | MODIFIER | HG02735.hp1 HG02976.hp1 NA18953.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0097 | a0001c0001t0006g0003a0001c0001t0006g0006a0001c0001t0006g0034others(10): Show | 15 | 396 | 0.0379 | 14 | c.*10 others(25): Show |
EFHC1 | ENSG00000096093.16 | transcript | ENST00000371068.11 | protein_coding | 11/11 | 1045 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
EFHC2_chrX_44142872_44348672 | 44148226 | C | CGTGTGTG others(7): Show |
3_prime_UTR_variant | MODIFIER | HG02155.hp2 HG02280.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0073a0001c0001t0010g0135a0001c0001t0010g0193 | 3 | 221 | 0.0136 | 14 | c.*56 others(23): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 568 | chrX | TogoVar | |||||
EFHC2_chrX_44142872_44348672 | 44178129 | T | TAACACAC others(7): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 221 | 0.0045 | 14 | c.194 others(31): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44178129 | T | TCACACAC others(7): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01081.hp1 HG01081.hp2 others(16): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0189a0001c0001t0002g0097a0001c0001t0002g0101others(16): Show | 19 | 221 | 0.0860 | 14 | c.194 others(31): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44187135 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01256.hp1 HG01978.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0007 | a0001c0001t0007g0124a0002c0002t0007g0118a0002c0002t0007g0155others(2): Show | 5 | 221 | 0.0226 | 14 | c.175 others(33): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44280030 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01952.hp1 HG01978.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0006t0001a0001c0006t0006others(3): Show | a0001c0001t0001g0104a0001c0006t0001g0029a0001c0006t0006g0106others(7): Show | 10 | 221 | 0.0453 | 14 | c.232 others(31): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | TogoVar | ||||||
EFHD1_chr2_232628604_232687776 | 232677207 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02622.hp2 HG03098.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0005 | a0001c0001t0006a0001c0001t0020a0001c0004t0004others(1): Show | a0001c0001t0006g0098a0001c0001t0020g0276a0001c0004t0004g0103others(3): Show | 6 | 382 | 0.0157 | 14 | c.586 others(31): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFL1_chr15_82125233_82267734 | 82138425 | A | AGAGAGAG others(7): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0141 | 1 | 368 | 0.0027 | 14 | c.317 others(31): Show |
EFL1 | ENSG00000140598.16 | transcript | ENST00000268206.12 | protein_coding | 19/19 | chr15 | TogoVar | ||||||
EFL1_chr15_82125233_82267734 | 82138425 | A | AGAGAGTG others(7): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01928.hp2 HG02818.hp1 others(4): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0006 | a0001c0001t0001a0003c0004t0001a0004c0006t0001 | a0001c0001t0001g0263a0001c0001t0001g0271a0001c0001t0001g0296others(4): Show | 7 | 368 | 0.0190 | 14 | c.317 others(31): Show |
EFL1 | ENSG00000140598.16 | transcript | ENST00000268206.12 | protein_coding | 19/19 | chr15 | TogoVar | ||||||
EFL1_chr15_82125233_82267734 | 82181622 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0340 | 1 | 368 | 0.0027 | 14 | c.175 others(35): Show |
EFL1 | ENSG00000140598.16 | transcript | ENST00000268206.12 | protein_coding | 15/19 | chr15 | TogoVar | ||||||
EFL1_chr15_82125233_82267734 | 82209316 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG01433.hp1 HG03225.hp2 HG03540.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0197a0001c0003t0001g0200a0001c0003t0001g0201 | 3 | 368 | 0.0082 | 14 | c.175 others(33): Show |
EFL1 | ENSG00000140598.16 | transcript | ENST00000268206.12 | protein_coding | 15/19 | chr15 | TogoVar | ||||||
EFL1_chr15_82125233_82267734 | 82211547 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0018 | 1 | 368 | 0.0027 | 14 | c.175 others(33): Show |
EFL1 | ENSG00000140598.16 | transcript | ENST00000268206.12 | protein_coding | 15/19 | chr15 | TogoVar | ||||||
EFL1_chr15_82125233_82267734 | 82211563 | C | CTAGACAC others(7): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0069 | 1 | 368 | 0.0027 | 14 | c.175 others(33): Show |
EFL1 | ENSG00000140598.16 | transcript | ENST00000268206.12 | protein_coding | 15/19 | chr15 | TogoVar | ||||||
EFL1_chr15_82125233_82267734 | 82211595 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02451.hp2 HG02647.hp1 others(6): Show |
a0002a0004a0007 | a0002c0002a0004c0006a0007c0010 | a0002c0002t0001a0004c0006t0001a0007c0010t0001 | a0002c0002t0001g0094a0002c0002t0001g0351a0004c0006t0001g0188others(6): Show | 9 | 368 | 0.0245 | 14 | c.175 others(33): Show |
EFL1 | ENSG00000140598.16 | transcript | ENST00000268206.12 | protein_coding | 15/19 | chr15 | TogoVar | ||||||
EFNA1_chr1_155122876_155139899 | 155133938 | G | GCCCTCTC others(7): Show |
splice_acceptor_variant others(1): Show |
HIGH | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 350 | 0.0029 | 14 | c.506 others(26): Show |
EFNA1 | ENSG00000169242.12 | transcript | ENST00000368407.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFNA5_chr5_107371894_107675937 | 107395034 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG01175.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0002g0018a0001c0001t0002g0022a0001c0001t0002g0029others(19): Show | 22 | 190 | 0.1158 | 14 | c.419 others(31): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107448866 | T | TAAATAAA others(7): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00639.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0028a0001c0001t0001g0078a0001c0001t0001g0133others(24): Show | 27 | 190 | 0.1421 | 14 | c.126 others(33): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107511002 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02300.hp1 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0005a0001c0001t0006g0176 | 2 | 190 | 0.0105 | 14 | c.126 others(33): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107511041 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0186 | 1 | 190 | 0.0053 | 14 | c.126 others(33): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107516174 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01433.hp2 HG01981.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(1): Show | a0001c0001t0001g0028a0001c0001t0007g0142a0001c0001t0009g0182others(1): Show | 4 | 190 | 0.0211 | 14 | c.126 others(33): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107569559 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0075 | 1 | 190 | 0.0053 | 14 | c.125 others(35): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107591917 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0034 | 1 | 190 | 0.0053 | 14 | c.125 others(33): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107617231 | C | CAGAGAGA others(7): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0025 | 1 | 190 | 0.0053 | 14 | c.125 others(33): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107617233 | C | CAGAGAGA others(7): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0097 | a0001c0001t0097g0027 | 1 | 190 | 0.0053 | 14 | c.125 others(33): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107660261 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03471.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0043others(1): Show | a0001c0001t0003g0066a0001c0001t0012g0178a0001c0001t0043g0171others(1): Show | 4 | 190 | 0.0211 | 14 | c.125 others(33): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNB1_chrX_68824021_68847160 | 68832811 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02976.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0024a0001c0001t0004g0126a0001c0001t0009g0024 | 4 | 335 | 0.0119 | 14 | c.128 others(31): Show |
EFNB1 | ENSG00000090776.6 | transcript | ENST00000204961.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EFNB2_chr13_106484745_106540662 | 106509627 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01358.hp1 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0144a0001c0001t0015g0155 | 2 | 356 | 0.0056 | 14 | c.406 others(31): Show |
EFNB2 | ENSG00000125266.8 | transcript | ENST00000646441.1 | protein_coding | 2/4 | chr13 | TogoVar | ||||||
EFNB2_chr13_106484745_106540662 | 106540314 | C | CGGGGGGG others(7): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0054 | a0001c0001t0004g0004a0001c0001t0054g0219 | 2 | 356 | 0.0056 | 14 | c.-53 others(25): Show |
EFNB2 | ENSG00000125266.8 | transcript | ENST00000646441.1 | protein_coding | 4653 | chr13 | TogoVar | ||||||
EFNB3_chr17_7700202_7716372 | 7714124 | C | CGCGTGTG others(7): Show |
downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 434 | 0.0023 | 14 | c.*45 others(25): Show |
EFNB3 | ENSG00000108947.5 | transcript | ENST00000226091.3 | protein_coding | 2753 | chr17 | TogoVar | ||||||
EFNB3_chr17_7700202_7716372 | 7714124 | C | CGTGTGTG others(7): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG01516.hp2 HG02132.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0002g0001others(5): Show | 16 | 434 | 0.0369 | 14 | c.*45 others(25): Show |
EFNB3 | ENSG00000108947.5 | transcript | ENST00000226091.3 | protein_coding | 2753 | chr17 | TogoVar | ||||||
EFR3A_chr8_131899093_132018642 | 132010405 | G | GATATATA others(7): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 412 | 0.0024 | 14 | c.236 others(31): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EFR3A_chr8_131899093_132018642 | 132010407 | G | GATATATA others(7): Show |
intron_variant | MODIFIER | HG01255.hp2 NA18906.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0002 | a0001c0001t0004g0253a0002c0002t0002g0293 | 2 | 412 | 0.0049 | 14 | c.236 others(31): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EFR3A_chr8_131899093_132018642 | 132013969 | T | TAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0003 | a0001c0003t0016 | a0001c0003t0016g0343 | 1 | 412 | 0.0024 | 14 | c.*30 others(25): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 328 | chr8 | TogoVar | ||||||
EFR3A_chr8_131899093_132018642 | 132013977 | A | AAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0078 | 1 | 412 | 0.0024 | 14 | c.*30 others(25): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 336 | chr8 | TogoVar | ||||||
EFR3A_chr8_131899093_132018642 | 132013977 | A | AAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG03098.hp2 NA18522.hp2 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0118a0001c0007t0001g0008 | 4 | 412 | 0.0097 | 14 | c.*30 others(25): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 336 | chr8 | TogoVar | ||||||
EFR3B_chr2_25037076_25164135 | 25080283 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02615.hp2 HG02622.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(2): Show | a0001c0001t0001g0186a0001c0001t0001g0187a0001c0001t0001g0188others(7): Show | 10 | 306 | 0.0327 | 14 | c.8-1 others(29): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EGFL6_chrX_13564601_13638575 | 13613157 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0032 | 1 | 302 | 0.0033 | 14 | c.779 others(31): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EGFL6_chrX_13564601_13638575 | 13623377 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01070.hp1 HG01891.hp1 others(17): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0003g0083a0001c0001t0004g0024a0001c0001t0005g0044others(17): Show | 20 | 302 | 0.0662 | 14 | c.118 others(31): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EGFLAM_chr5_38253559_38470480 | 38336570 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01099.hp1 HG01109.hp1 others(13): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0010a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0026a0001c0001t0001g0032others(13): Show | 16 | 190 | 0.0842 | 14 | c.98- others(27): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EGFLAM_chr5_38253559_38470480 | 38349773 | G | GCACACAC others(7): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01358.hp2 HG02615.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0112a0001c0001t0002g0144a0002c0002t0001g0094 | 3 | 190 | 0.0158 | 14 | c.292 others(29): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EGFLAM_chr5_38253559_38470480 | 38441593 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01257.hp1 HG01261.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(5): Show | a0001c0001t0001g0054a0001c0001t0003g0102a0002c0002t0001g0099others(5): Show | 8 | 190 | 0.0421 | 14 | c.246 others(33): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EGFR_chr7_55014017_55216628 | 55020559 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG02896.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0003 | a0001c0001t0001g0008a0001c0005t0003g0009 | 2 | 250 | 0.0080 | 14 | c.88+ others(29): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EGFR_chr7_55014017_55216628 | 55061649 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01496.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0004a0001c0011a0001c0014 | a0001c0004t0006a0001c0011t0014a0001c0014t0003 | a0001c0004t0006g0105a0001c0011t0014g0171a0001c0014t0003g0095 | 3 | 250 | 0.0120 | 14 | c.88+ others(31): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EGFR_chr7_55014017_55216628 | 55087273 | T | TAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03239.hp2 HG03688.hp2 NA18945.hp1 others(1): Show |
a0001a0002 | a0001c0004a0001c0005a0001c0020others(1): Show | a0001c0004t0006a0001c0005t0003a0001c0020t0001others(1): Show | a0001c0004t0006g0018a0001c0005t0003g0186a0001c0020t0001g0158others(1): Show | 4 | 250 | 0.0160 | 14 | c.89- others(31): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EGFR_chr7_55014017_55216628 | 55091847 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG02451.hp1 NA19240.hp1 NA20905.hp1 |
a0001a0002 | a0001c0003a0001c0019a0002c0026 | a0001c0003t0027a0001c0019t0006a0002c0026t0003 | a0001c0003t0027g0177a0001c0019t0006g0096a0002c0026t0003g0116 | 3 | 250 | 0.0120 | 14 | c.89- others(31): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |