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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EYA4_chr6_133236357_133537128 | 133394284 | GTTTTTTT others(7): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02145.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0002c0002t0049 | a0001c0001t0011g0086a0002c0002t0049g0116 | 2 | 264 | 0.0076 | -14 | c.83+ others(31): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYA4_chr6_133236357_133537128 | 133428911 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG02486.hp2 HG02572.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0013a0001c0001t0016others(5): Show | a0001c0001t0003g0249a0001c0001t0013g0117a0001c0001t0016g0050others(5): Show | 8 | 264 | 0.0303 | -14 | c.84- others(31): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYA4_chr6_133236357_133537128 | 133489310 | ATGGAGGG others(7): Show |
A | intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 264 | 0.0038 | -14 | c.119 others(33): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYS_chr6_63714980_65712226 | 63908030 | ATACGTTT others(7): Show |
A | intron_variant | MODIFIER | HG01169.hp2 HG02622.hp1 HG02809.hp2 others(4): Show |
a0003a0006a0008others(3): Show | a0003c0002a0003c0019a0006c0022others(4): Show | a0003c0002t0002a0003c0019t0001a0006c0022t0001others(4): Show | a0003c0002t0002g0019a0003c0019t0001g0006a0006c0022t0001g0011others(4): Show | 7 | 24 | 0.2917 | -14 | c.705 others(35): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 35/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64133476 | TCACACAC others(7): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0019 | a0019c0023 | a0019c0023t0001 | a0019c0023t0001g0010 | 1 | 24 | 0.0417 | -14 | c.642 others(35): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 31/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64372130 | GTTTTTTT others(7): Show |
G | intron_variant | MODIFIER | HG01169.hp1 HG02451.hp1 HG02622.hp2 others(3): Show |
a0001a0003a0013others(3): Show | a0001c0012a0003c0002a0013c0020others(3): Show | a0001c0012t0002a0003c0002t0002a0013c0020t0002others(3): Show | a0001c0012t0002g0021a0003c0002t0002g0019a0013c0020t0002g0022others(3): Show | 6 | 24 | 0.2500 | -14 | c.607 others(35): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 29/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64715295 | TTACGTCC others(7): Show |
T | intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 HG02451.hp1 others(9): Show |
a0003a0004a0006others(8): Show | a0003c0002a0003c0019a0004c0017others(9): Show | a0003c0002t0002a0003c0019t0001a0004c0017t0001others(9): Show | a0003c0002t0002g0019a0003c0019t0001g0006a0004c0017t0001g0002others(9): Show | 12 | 24 | 0.5000 | -14 | c.344 others(35): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 22/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65459968 | TTATATAT others(7): Show |
T | intron_variant | MODIFIER | HG02809.hp1 HG02965.hp1 |
a0002a0012 | a0002c0008a0012c0005 | a0002c0008t0002a0012c0005t0001 | a0002c0008t0002g0020a0012c0005t0001g0014 | 2 | 24 | 0.0833 | -14 | c.862 others(33): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 5/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65506460 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG02886.hp2 HG03195.hp1 |
a0001a0007 | a0001c0009a0007c0018 | a0001c0009t0001a0007c0018t0001 | a0001c0009t0001g0012a0007c0018t0001g0007 | 2 | 24 | 0.0833 | -14 | c.-33 others(35): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 2/42 | chr6 | TogoVar | ||||||
EZH2_chr7_148802383_148889291 | 148846838 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014 | 3 | 380 | 0.0079 | -14 | c.118 others(29): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 2/19 | chr7 | TogoVar | ||||||
EZR_chr6_158760748_158824368 | 158774672 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG03098.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285a0001c0001t0001g0286 | 2 | 312 | 0.0064 | -14 | c.795 others(31): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 8/13 | chr6 | TogoVar | ||||||
F10_chr13_113117799_113154529 | 113154054 | CGGGGGGC others(7): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00642.hp1 others(31): Show |
a0001a0006 | a0001c0002a0006c0010 | a0001c0002t0001a0006c0010t0001 | a0001c0002t0001g0011a0001c0002t0001g0015a0001c0002t0001g0025others(30): Show | 34 | 412 | 0.0825 | -14 | c.*45 others(25): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 4526 | chr13 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6172271 | GAATTGTC others(7): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp2 others(76): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0013others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0111a0001c0001t0001g0179a0001c0001t0001g0227others(76): Show | 79 | 292 | 0.2706 | -14 | c.174 others(33): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 12/14 | chr6 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6277335 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 292 | 0.0034 | -14 | c.320 others(33): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 3/14 | chr6 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6294711 | TTCTTTTT others(7): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00642.hp2 others(16): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(10): Show | a0001c0001t0001g0181a0001c0001t0001g0235a0001c0001t0001g0252others(16): Show | 19 | 292 | 0.0651 | -14 | c.319 others(33): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 3/14 | chr6 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6316078 | CATATATA others(7): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG01346.hp2 HG02300.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0009t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0107a0001c0009t0001g0072a0002c0002t0001g0022others(3): Show | 6 | 292 | 0.0206 | -14 | c.130 others(31): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 2/14 | chr6 | TogoVar | ||||||
F2R_chr5_76711126_76740770 | 76712352 | ACCTGAAT others(7): Show |
A | upstream_gene_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0089 | 1 | 422 | 0.0024 | -14 | c.-39 others(25): Show |
F2R | ENSG00000181104.7 | transcript | ENST00000319211.5 | protein_coding | 3773 | chr5 | TogoVar | ||||||
F5_chr1_169506951_169591481 | 169577560 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0004 | a0004c0050 | a0004c0050t0003 | a0004c0050t0003g0279 | 1 | 306 | 0.0033 | -14 | c.250 others(31): Show |
F5 | ENSG00000198734.12 | transcript | ENST00000367797.9 | protein_coding | 2/24 | chr1 | TogoVar | ||||||
FA2H_chr16_74707969_74779820 | 74741796 | ATATATAT others(7): Show |
A | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0100 | 1 | 388 | 0.0026 | -14 | c.271 others(31): Show |
FA2H | ENSG00000103089.9 | transcript | ENST00000219368.8 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
FA2H_chr16_74707969_74779820 | 74741800 | ATATATAT others(7): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02895.hp1 HG02896.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002a0001c0003t0011 | a0001c0003t0001g0320a0001c0003t0001g0321a0001c0003t0001g0322others(3): Show | 6 | 388 | 0.0155 | -14 | c.271 others(31): Show |
FA2H | ENSG00000103089.9 | transcript | ENST00000219368.8 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
FAAH2_chrX_57281706_57494193 | 57306718 | GTGTGTGT others(7): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02630.hp2 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098a0001c0001t0001g0134a0001c0001t0001g0135 | 3 | 282 | 0.0106 | -14 | c.276 others(31): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FAAH2_chrX_57281706_57494193 | 57345151 | AGTATTGG others(7): Show |
A | intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 282 | 0.0036 | -14 | c.742 others(31): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 5/10 | chrX | TogoVar | ||||||
FAAH2_chrX_57281706_57494193 | 57352036 | ACATATAT others(7): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG02523.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0271a0001c0002t0002g0006a0001c0002t0002g0169others(8): Show | 11 | 282 | 0.0390 | -14 | c.742 others(33): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 5/10 | chrX | TogoVar | ||||||
FAAP100_chr17_81534891_81557353 | 81542188 | AAAAAAAA others(7): Show |
A | intron_variant | MODIFIER | HG01496.hp2 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0216 | 1 | 436 | 0.0023 | -14 | c.242 others(31): Show |
FAAP100 | ENSG00000185504.17 | transcript | ENST00000327787.13 | protein_coding | 7/8 | chr17 | TogoVar | ||||||
FAAP100_chr17_81534891_81557353 | 81542194 | AAAAAAAA others(7): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0021 | a0002c0021t0008 | a0002c0021t0008g0147 | 1 | 436 | 0.0023 | -14 | c.242 others(31): Show |
FAAP100 | ENSG00000185504.17 | transcript | ENST00000327787.13 | protein_coding | 7/8 | chr17 | TogoVar | ||||||
FAAP24_chr19_32967242_32983229 | 32983055 | TACACACA others(7): Show |
T | downstream_gene_variant | MODIFIER | HG02922.hp2 HG03209.hp2 HG03516.hp1 others(1): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0024a0001c0003t0034a0001c0008t0024others(1): Show | a0001c0001t0024g0084a0001c0003t0034g0001a0001c0008t0024g0036others(1): Show | 4 | 452 | 0.0089 | -14 | c.*63 others(25): Show |
FAAP24 | ENSG00000131944.11 | transcript | ENST00000588258.6 | protein_coding | 4827 | chr19 | TogoVar | ||||||
FABP1_chr2_88117982_88133062 | 88130120 | AGTGTGTG others(7): Show |
A | upstream_gene_variant | MODIFIER | HG02559.hp2 HG02615.hp2 HG02895.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0005a0001c0001t0001g0016a0002c0002t0001g0027 | 5 | 468 | 0.0107 | -14 | c.-21 others(25): Show |
FABP1 | ENSG00000163586.10 | transcript | ENST00000295834.8 | protein_coding | 2059 | chr2 | TogoVar | ||||||
FABP3_chr1_31360253_31378076 | 31376236 | GGTTGACT others(7): Show |
G | upstream_gene_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 388 | 0.0026 | -14 | c.-32 others(25): Show |
FABP3 | ENSG00000121769.8 | transcript | ENST00000373713.7 | protein_coding | 3161 | chr1 | TogoVar | ||||||
FABP6_chr5_160224506_160243716 | 160227819 | CGTGTGTG others(7): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0132 | 1 | 476 | 0.0021 | -14 | c.-17 others(25): Show |
FABP6 | ENSG00000170231.16 | transcript | ENST00000402432.4 | protein_coding | 1686 | chr5 | TogoVar | ||||||
FABP6_chr5_160224506_160243716 | 160227838 | GTGTGTGT others(7): Show |
G | upstream_gene_variant | MODIFIER | HG03654.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215a0001c0001t0001g0228 | 2 | 476 | 0.0042 | -14 | c.-17 others(25): Show |
FABP6 | ENSG00000170231.16 | transcript | ENST00000402432.4 | protein_coding | 1667 | chr5 | TogoVar | ||||||
FADS1_chr11_61794627_61822003 | 61799115 | CAAAAAAA others(7): Show |
C | downstream_gene_variant | MODIFIER | HG02970.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0054 | 2 | 272 | 0.0074 | -14 | c.*32 others(25): Show |
FADS1 | ENSG00000149485.19 | transcript | ENST00000350997.12 | protein_coding | 511 | chr11 | TogoVar | ||||||
FADS2_chr11_61823300_61872354 | 61824433 | AGGGAGGG others(7): Show |
A | upstream_gene_variant | MODIFIER | HG02257.hp1 HG03209.hp2 NA18998.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0003 | a0001c0001t0001g0192a0001c0001t0001g0194a0001c0001t0003g0128others(1): Show | 4 | 280 | 0.0143 | -14 | c.-39 others(25): Show |
FADS2 | ENSG00000134824.14 | transcript | ENST00000278840.9 | protein_coding | 3866 | chr11 | TogoVar | ||||||
FADS2_chr11_61823300_61872354 | 61853241 | CTTTCTCT others(7): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG02258.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0029a0001c0001t0001g0030 | 4 | 280 | 0.0143 | -14 | c.745 others(31): Show |
FADS2 | ENSG00000134824.14 | transcript | ENST00000278840.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FADS6_chr17_74872302_74898633 | 74888126 | CCACACAC others(7): Show |
C | intron_variant | MODIFIER | HG03130.hp1 NA18951.hp2 NA19079.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0102others(1): Show | 4 | 440 | 0.0091 | -14 | c.411 others(31): Show |
FADS6 | ENSG00000172782.13 | transcript | ENST00000612771.5 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
FADS6_chr17_74872302_74898633 | 74888144 | ACACACAC others(7): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01884.hp2 HG01891.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0121a0001c0001t0001g0173a0001c0001t0001g0188others(4): Show | 8 | 440 | 0.0182 | -14 | c.411 others(31): Show |
FADS6 | ENSG00000172782.13 | transcript | ENST00000612771.5 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
FADS6_chr17_74872302_74898633 | 74888146 | ACACACAC others(7): Show |
A | intron_variant | MODIFIER | HG00639.hp1 | a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0075 | 1 | 440 | 0.0023 | -14 | c.411 others(31): Show |
FADS6 | ENSG00000172782.13 | transcript | ENST00000612771.5 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
FADS6_chr17_74872302_74898633 | 74888148 | ACACACAC others(7): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0288 | 1 | 440 | 0.0023 | -14 | c.411 others(31): Show |
FADS6 | ENSG00000172782.13 | transcript | ENST00000612771.5 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50472368 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG02145.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0036 | a0001c0001t0020g0117a0001c0001t0036g0120 | 2 | 190 | 0.0105 | -14 | c.186 others(33): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 18/18 | chr1 | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50662683 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp2 HG02717.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0020a0001c0001t0022others(1): Show | a0001c0001t0010g0179a0001c0001t0010g0182a0001c0001t0010g0183others(4): Show | 7 | 190 | 0.0368 | -14 | c.658 others(31): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 7/18 | chr1 | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50691147 | AAACTTTT others(7): Show |
A | intron_variant | MODIFIER | HG02145.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0036 | a0001c0001t0020g0117a0001c0001t0036g0120 | 2 | 190 | 0.0105 | -14 | c.657 others(33): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 7/18 | chr1 | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50724282 | CACACACA others(7): Show |
C | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0071 | 1 | 190 | 0.0053 | -14 | c.551 others(33): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 6/18 | chr1 | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50746247 | CATATATA others(7): Show |
C | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 190 | 0.0053 | -14 | c.368 others(31): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 4/18 | chr1 | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50836951 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0078 | 1 | 190 | 0.0053 | -14 | c.114 others(33): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 2/18 | chr1 | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50931892 | AATAATAA others(7): Show |
A | intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0159 | 1 | 190 | 0.0053 | -14 | c.45+ others(31): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 1/18 | chr1 | TogoVar | ||||||
FAF2_chr5_176443385_176515074 | 176454577 | GAAAAAAA others(7): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(130): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0112a0001c0001t0001g0113a0001c0001t0001g0115others(129): Show | 133 | 372 | 0.3575 | -14 | c.63+ others(29): Show |
FAF2 | ENSG00000113194.13 | transcript | ENST00000261942.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FAF2_chr5_176443385_176515074 | 176512317 | CTTTTTTT others(7): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp1 HG02145.hp2 HG02258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006a0001c0001t0004g0007a0001c0001t0004g0008others(5): Show | 8 | 372 | 0.0215 | -14 | c.*53 others(25): Show |
FAF2 | ENSG00000113194.13 | transcript | ENST00000261942.7 | protein_coding | 2244 | chr5 | TogoVar | ||||||
FAH_chr15_80147999_80191349 | 80148875 | GTGTGTGT others(7): Show |
G | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272a0001c0001t0001g0273 | 2 | 428 | 0.0047 | -14 | c.-41 others(25): Show |
FAH | ENSG00000103876.14 | transcript | ENST00000561421.6 | protein_coding | 4123 | chr15 | TogoVar | ||||||
FAH_chr15_80147999_80191349 | 80148876 | TGTGTGTG others(7): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00733.hp2 others(41): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0012others(3): Show | a0001c0001t0001a0001c0003t0003a0001c0012t0003others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0028others(26): Show | 44 | 428 | 0.1028 | -14 | c.-41 others(25): Show |
FAH | ENSG00000103876.14 | transcript | ENST00000561421.6 | protein_coding | 4122 | chr15 | TogoVar | ||||||
FAH_chr15_80147999_80191349 | 80148878 | TGTGTGTG others(7): Show |
T | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01106.hp2 HG02451.hp2 others(3): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0027a0001c0001t0001g0278a0001c0001t0001g0279others(1): Show | 6 | 428 | 0.0140 | -14 | c.-41 others(25): Show |
FAH | ENSG00000103876.14 | transcript | ENST00000561421.6 | protein_coding | 4120 | chr15 | TogoVar | ||||||
FAH_chr15_80147999_80191349 | 80169382 | CAAAACAA others(7): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0280 | 1 | 428 | 0.0023 | -14 | c.606 others(31): Show |
FAH | ENSG00000103876.14 | transcript | ENST00000561421.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |